##AnalysisProc ID of the process that generated the VCF file ##Sample Tumour sample name ##Normal Normal sample name ##VariantID ID of the Variant ##Chrom Chromosome ##Pos Position, the position of a sub or the position immediatly before an indel ##Ref Reference sequence of the Variant ##Alt Alternative sequence of the Variant ##Qual VCF Quality field ##Filter VCF Filter field ##Gene Gene affected, according to the VD tag ##Transcript Transcript affected, according to the VD tag ##RNA Variant description at RNA level ##CDS Variant description at CDS level ##Protein Variant description at protein level ##Type Variant type ##Effect Summary variants of overall effect ##VCF Info Fields ##PC Pindel call ##RS Range start ##RE Range end ##LEN Length ##S1 S1 ##S2 S2 ##PA Annotation on the positive strand ##NA Annotation on the negative strand ##REP Change repeat count with range ##PRV Fraction of reads reporting the most prevalent change ##F017 Variant must not overlap with a simple repeat ##VD Vagrent Default Annotation ##VW Vagrent Most Deleterious Annotation ##GT-Norm Genotype for the Normal ##PP-Norm Pindel calls on the positive strand for the Normal ##NP-Norm Pindel calls on the negative strand for the Normal ##PB-Norm BWA calls on the positive strand for the Normal ##NB-Norm BWA calls on the negative strand for the Normal ##PD-Norm BWA mapped reads on the positive strand for the Normal ##ND-Norm BWA mapped reads on the negative strand for the Normal ##PR-Norm Total mapped reads on the positive strand for the Normal ##NR-Norm Total mapped reads on the negative strand for the Normal ##PU-Norm Unique calls on the positive strand for the Normal ##NU-Norm Unique calls on the negative strand for the Normal ##GT-Tum Genotype for the Tumour ##PP-Tum Pindel calls on the positive strand for the Tumour ##NP-Tum Pindel calls on the negative strand for the Tumour ##PB-Tum BWA calls on the positive strand for the Tumour ##NB-Tum BWA calls on the negative strand for the Tumour ##PD-Tum BWA mapped reads on the positive strand for the Tumour ##ND-Tum BWA mapped reads on the negative strand for the Tumour ##PR-Tum Total mapped reads on the positive strand for the Tumour ##NR-Tum Total mapped reads on the negative strand for the Tumour ##PU-Tum Unique calls on the positive strand for the Tumour ##NU-Tum Unique calls on the negative strand for the Tumour ##VCF Flag Fields ##FLG-F004 Tum medium read depth strand bias check: Calls In 8% Reads Bt Depth 10 And 200 (inclusive) ##FLG-F005 Tum high read depth strand bias check: Calls In 4% Reads > Depth 200 ##FLG-F006 Small call excessive repeat check: Fail if Length <= 4 and Repeats > 9 ##FLG-F010 Variant must not exist within the Unmatched Normal Panel ##FLG-F012 Germline: When length < 11 and depth > 9, fail if the variant is seen in both 20% of normal reads AND 20% of tumour reads in either pindel or bwa ##FLG-F018 Sufficient Depth: Pass if depth > 10 ##FLG-F015 No normal calls ##FLG-F016 Verify indel condition #AnalysisProc Sample Normal VariantID Chrom Pos Ref Alt Qual Filter Gene Transcript RNA CDS Protein Type Effect PC RS RE LEN S1 S2 PA NA REP PRV F017 VD VW GT-Norm PP-Norm NP-Norm PB-Norm NB-Norm PD-Norm ND-Norm PR-Norm NR-Norm PU-Norm NU-Norm GT-Tum PP-Tum NP-Tum PB-Tum NB-Tum PD-Tum ND-Tum PR-Tum NR-Tum PU-Tum NU-Tum FLG-F004 FLG-F005 FLG-F006 FLG-F010 FLG-F012 FLG-F018 FLG-F015 FLG-F016 2577887 PD4075a PD4075b 2664332069 1 5592152 CGAA C 509 PASS - - - - - Del - D 5592152 5592160 3 28 482.741 - - 2 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 3 6 3 6 20 22 20 22 3 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664348429 1 67536353 C CT 360 PASS - - - - - Ins - I 67536353 67536361 1 15 317.613 - - 7 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 2 4 4 4 24 22 24 22 4 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664356574 1 97166081 TAG T 480 PASS - - - - - Del - D 97166081 97166089 2 24 429.103 - - 3 1 1 - - ./. 0 0 0 0 14 23 14 23 0 0 ./. 5 3 8 4 23 11 23 11 8 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664361958 1 117739754 TATTAAGATAAGTACA T 261 PASS VTCN1 CCDS894.1 r.? - - Del intronic D 117739754 117739772 15 28 480.935 - - 1 1 1 VTCN1|CCDS894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VTCN1|CCDS894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 6 3 5 28 17 28 18 3 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664363639 1 142804299 AT A 525 PASS - - - - - Del - D 142804299 142804307 1 20 1019.12 - - 7 1 1 - - ./. 0 0 0 0 134 105 134 105 0 0 ./. 19 0 22 0 191 151 191 151 22 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664364163 1 143275379 A AT 310 PASS - - - - - Ins - I 143275379 143275380 1 24 635.226 - - 0 1 1 - - ./. 0 0 0 0 35 31 35 31 0 0 ./. 1 11 1 15 81 105 81 106 1 15 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664366042 1 148537493 TG T 342 PASS - - - - - Del - D 148537493 148537495 1 11 536.379 - - 1 1 1 - - ./. 0 0 0 0 33 32 33 32 0 0 ./. 10 0 14 0 92 26 92 26 14 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664370327 1 162173024 AT A 480 PASS NOS1AP CCDS1237.1 r.? - - Del intronic D 162173024 162173027 1 24 429.103 - - 2 1 1 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 24 20 24 0 0 ./. 5 3 11 10 37 32 37 32 11 10 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664370823 1 163727963 GGGTGGGGGCTCCCCTGCCACATGTAGCTATCAGGTGGCAGGGGAGCCCCCACCCCCAGCCAAGGGA G 464 PASS - - - - - Del - D 163727963 163728035 66 77 856.4 - - 1 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 10 6 0 0 9 22 19 28 10 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664446602 11 36722482 TG T 749 PASS - - - - - Del - D 36722482 36722486 1 56 700.874 - - 3 1 1 - - ./. 0 0 0 0 23 9 23 9 0 0 ./. 7 6 9 6 23 21 23 21 9 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664461918 11 97337235 CAT C 300 PASS - - - - - Del - D 97337235 97337239 2 12 265.954 - - 1 1 - - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 3 2 24 32 24 32 3 2 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664472945 12 1886536 TA T 300 PASS ADIPOR2 CCDS8511.1 r.? - - Del intronic D 1886536 1886538 1 6 268.085 - - 1 1 - ADIPOR2|CCDS8511.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADIPOR2|CCDS8511.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 23 6 23 0 0 ./. 0 5 0 12 27 36 27 36 0 12 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664488852 12 56589014 TTGCAGTGAGCCGTGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAATTAGTCTCACTTTGTCGCCCAGGCTGGAG T 261 PASS - - - - - Del - D 56589014 56589123 101 30 484.72 - - 1 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 5 4 0 0 13 17 18 21 5 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664493086 12 71124582 GGA G 300 PASS PTPRR CCDS8998.1 r.? - - Del intronic D 71124582 71124599 2 12 268.687 - - 8 1 1 PTPRR|CCDS8998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRR|CCDS8998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 6 21 6 0 0 ./. 3 2 4 2 26 23 26 23 4 2 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664498568 12 90551577 GAA G 300 PASS - - - - - Del - D 90551577 90551580 2 6 267.483 - - 2 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 5 0 8 0 33 23 33 23 8 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664502653 12 102866196 TA T 300 PASS IGF1 CCDS44961.1 r.? - - Del intronic D 102866196 102866206 1 6 269.289 - - 9 1 1 IGF1|CCDS44961.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGF1|CCDS44961.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 0 5 0 6 23 25 23 25 0 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664521523 13 48577696 A AC 300 PASS SUCLA2 CCDS9406.1 r.? - - Ins upstream I 48577696 48577697 1 12 265.321 - - 0 1 1 SUCLA2|CCDS9406.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SUCLA2|CCDS9406.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 2 3 2 18 23 19 23 3 2 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664526596 13 64932140 CA C 540 PASS - - - - - Del - D 64932140 64932150 1 24 483.237 - - 9 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 2 7 8 13 18 36 18 36 8 13 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664530491 13 77199802 T TA 300 PASS - - - - - Ins - I 77199802 77199805 1 12 266.525 - - 2 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 2 3 2 3 24 34 25 34 2 3 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664533363 13 87064503 CT C 360 PASS - - - - - Del - D 87064503 87064505 1 15 323.563 - - 1 1 1 - - ./. 0 0 0 0 12 25 12 25 0 0 ./. 4 2 5 4 21 29 21 29 5 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664550411 14 48080700 CA C 569 PASS MDGA2 CCDS45098.1 r.? - - Del intronic D 48080700 48080709 1 36 539.801 - - 8 1 1 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 5 5 7 9 28 28 28 28 7 9 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664583137 15 70300664 CAAT C 654 PASS - - - - - Del - D 70300664 70300672 3 63 757.885 - - 2 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 8 6 8 8 20 26 20 26 8 8 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664596793 16 11458753 CCT C 300 PASS - - - - - Del - D 11458753 11458770 2 12 268.92 - - 8 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 2 3 2 40 52 40 52 3 2 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664599055 16 17313157 AAG A 300 PASS XYLT1 CCDS10569.1 r.? - - Del intronic D 17313157 17313161 2 6 267.114 - - 1 1 - XYLT1|CCDS10569.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XYLT1|CCDS10569.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 0 4 0 60 38 60 38 7 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664600035 16 19526405 AAG A 329 PASS GDE1 CCDS10578.1 r.? - - Del intronic D 19526405 19526409 2 7 318.128 - - 1 1 1 GDE1|CCDS10578.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GDE1|CCDS10578.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 8 22 8 0 0 ./. 6 0 7 0 48 38 48 38 7 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664600408 16 20660867 TTC T 300 PASS ACSM1 CCDS10587.1 r.? - - Del intronic D 20660867 20660885 2 10 270.124 - - 8 1 1 ACSM1|CCDS10587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACSM1|CCDS10587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 1 5 1 56 50 56 50 5 1 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664602075 16 25190270 TC T 420 PASS LCMT1 CCDS45445.1 r.? - - Del downstream D 25190270 25190272 1 8 368.54 - - 1 1 - LCMT1|CCDS45445.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LCMT1|CCDS45445.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 9 13 9 0 0 ./. 7 0 15 0 38 38 38 38 15 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664602250 16 25524786 CT C 720 PASS - - - - - Del - D 25524786 25524788 1 49 648.297 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 6 6 7 10 45 57 45 57 7 10 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664602725 16 26812420 ATG A 300 PASS - - - - - Del - D 26812420 26812438 2 12 270.124 - - 8 1 - - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 2 5 3 59 48 59 48 5 3 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664604323 16 31251943 TG T 300 PASS - - - - - Del - D 31251943 31251945 1 6 265.307 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 0 13 0 40 34 40 34 13 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664604686 16 32364304 T TG 319 PASS - - - - - Ins - I 32364304 32364306 1 17 854.161 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 16 0 23 0 56 35 56 35 23 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664625335 17 25283620 T TA 471 PASS - - - - - Ins - I 25283620 25283623 1 19 963.54 - - 2 1 1 - - ./. 0 0 0 0 41 76 42 76 0 0 ./. 18 0 23 0 144 100 144 100 23 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664631803 17 46328023 TA T 358 PASS SKAP1 CCDS32674.1 r.? - - Del intronic D 46328023 46328033 1 20 378.925 - - 9 1 1 SKAP1|CCDS32674.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SKAP1|CCDS32674.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 3 4 3 23 22 23 22 4 3 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664644820 18 6729673 T TGCCCGGGGGCCCCTGACAGCCGCGTC 290 PASS ARHGAP28 ENST00000400091 r.? - - Ins upstream I 6729673 6729698 26 27 370.194 - - 0 1 1 ARHGAP28|ENST00000400091|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ARHGAP28|ENST00000400091|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 12 3 12 3 0 0 ./. 8 2 0 0 18 13 26 16 8 2 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664675027 19 31608724 TA T 600 PASS - - - - - Del - D 31608724 31608726 1 35 541.826 - - 1 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 6 4 13 6 33 27 33 27 13 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664685550 2 3728636 TG T 389 PASS ALLC CCDS46223.1 r.? - - Del intronic D 3728636 3728640 1 20 375.41 - - 3 1 1 ALLC|CCDS46223.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALLC|CCDS46223.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 8 28 8 0 0 ./. 4 3 5 5 35 27 35 27 5 5 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664701166 2 58946282 AT A 480 PASS - - - - - Del - D 58946282 58946286 1 16 429.04 - - 3 1 1 - - ./. 0 0 0 0 24 23 24 23 0 0 ./. 1 7 5 11 26 38 26 38 5 11 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664701886 2 61932598 T TA 720 PASS - - - - - Ins - I 61932598 61932599 1 48 636.335 - - 0 1 1 - - ./. 0 0 0 0 11 16 11 17 0 0 ./. 5 7 7 7 26 22 26 22 7 7 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664702570 2 64539204 C CG 660 PASS - - - - - Ins - I 64539204 64539206 1 40 583.307 - - 1 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 7 4 8 32 22 33 22 4 8 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664706765 2 80875614 GT G 449 PASS CTNNA2 CCDS42703.2 r.4060delU c.? p.? Del 3'UTR variant D 80875614 80875622 1 24 428.438 - - 7 1 1 CTNNA2|CCDS42703.2|r.4060delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CTNNA2|CCDS42703.2|r.4060delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 5 4 8 31 19 31 19 4 8 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664706924 2 81577977 GA G 683 PASS - - - - - Del - D 81577977 81577983 1 40 642.958 - - 5 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 3 9 6 10 18 23 18 23 6 10 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664708721 2 87864512 AT A 296 PASS - - - - - Del - D 87864512 87864522 1 9 429.04 - - 9 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 8 0 9 0 48 23 48 23 9 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664711455 2 100338263 ATAAAT A 420 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100338263 100338272 5 14 375.41 - - 1 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 6 1 7 1 29 24 29 24 7 1 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664714963 2 114342983 A ATGTT 290 PASS MIR1302-3 ENST00000408128 r.? - - Ins upstream I 114342983 114342986 4 20 512.218 - - 0 1 1 MIR1302-3|ENST00000408128|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 MIR1302-3|ENST00000408128|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 37 24 37 24 0 0 ./. 9 1 9 1 68 71 68 72 9 1 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664715699 2 116949868 GC G 480 PASS - - - - - Del - D 116949868 116949870 1 25 429.04 - - 1 1 1 - - ./. 0 0 0 0 29 23 29 23 0 0 ./. 4 4 5 8 32 23 32 23 5 8 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664728033 2 161161652 CT C 660 PASS RBMS1 CCDS2213.1 r.? - - Del intronic D 161161652 161161654 1 22 588.124 - - 1 1 1 RBMS1|CCDS2213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBMS1|CCDS2213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 10 3 16 15 46 15 46 3 16 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664731669 2 173837849 TTC T 300 PASS RAPGEF4 CCDS42775.1 r.? - - Del intronic D 173837849 173837853 2 6 262.129 - - 1 1 - RAPGEF4|CCDS42775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAPGEF4|CCDS42775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 0 5 0 33 24 33 24 6 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664731769 2 174106502 CTT C 480 PASS ENSG00000091436 CCDS42777.1 r.? - - Del intronic D 174106502 174106506 2 25 429.04 - - 3 1 1 ENSG00000091436|CCDS42777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000091436|CCDS42777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 4 4 9 8 30 28 30 28 9 8 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664739882 2 203544629 ATAT A 660 PASS FAM117B CCDS33362.1 r.? - - Del intronic D 203544629 203544636 3 40 589.93 - - 2 1 1 FAM117B|CCDS33362.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM117B|CCDS33362.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 23 14 23 0 0 ./. 4 7 7 9 22 21 22 21 7 9 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664744605 2 219777780 C CA 660 PASS - - - - - Ins - I 219777780 219777782 1 40 583.307 - - 1 1 1 - - ./. 0 0 0 0 23 13 23 14 0 0 ./. 7 4 9 5 25 14 26 15 9 5 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664750829 2 241478711 TGGACCAGAGGAACGAACAACTCC T 290 PASS ANKMY1 CCDS2536.1 r.? - - Del intronic D 241478711 241478740 23 35 535.698 - - 1 1 1 ANKMY1|CCDS2536.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKMY1|CCDS2536.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 4 2 4 17 28 19 28 6 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664757974 20 22905940 TC T 269 PASS - - - - - Del - D 22905940 22905942 1 6 268.03 - - 1 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 5 0 5 0 26 25 26 25 5 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664769414 20 62694301 CG C 420 PASS TCEA2 CCDS13554.1 r.293delG c.? p.? Del 5'UTR variant D 62694301 62694305 1 20 378.252 - - 3 1 1 TCEA2|CCDS13554.1|r.293delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 TCEA2|CCDS13554.1|r.293delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 2 13 2 13 0 0 ./. 4 3 5 5 34 28 34 28 5 5 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664770978 21 10118738 CTGAT C 294 PASS - - - - - Del - D 10118738 10118745 4 40 651.861 - - 1 1 1 - - ./. 0 0 0 0 106 62 106 62 0 0 ./. 9 3 12 4 64 44 64 44 12 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664773185 21 15141132 A AC 406 PASS - - - - - Ins - I 15141132 15141133 1 15 752.076 - - 0 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 14 0 15 0 37 32 37 33 15 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664773904 21 17772061 TG T 300 PASS - - - - - Del - D 17772061 17772063 1 6 269.201 - - 1 1 1 - - ./. 0 0 0 0 25 15 25 15 0 0 ./. 0 5 0 6 30 37 30 37 0 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664784337 22 16971559 G GT 250 PASS - - - - - Ins - I 16971559 16971560 1 15 754.241 - - 0 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 14 0 19 0 32 23 32 24 19 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664784569 22 17392296 CCCAGATGTT C 319 PASS - - - - - Del - D 17392296 17392318 9 13 653.717 - - 2 1 1 - - ./. 0 0 0 0 51 32 51 32 0 0 ./. 12 0 12 0 68 17 68 17 12 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664788599 22 30018865 GA G 389 PASS NF2 CCDS13861.1 r.? - - Del intronic D 30018865 30018867 1 20 381.335 - - 1 1 1 NF2|CCDS13861.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NF2|CCDS13861.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 4 3 6 3 12 18 12 18 6 3 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664808925 3 49039422 ACT A 360 PASS P4HTM CCDS2781.2 r.? - - Del intronic D 49039422 49039428 2 15 320.502 - - 2 1 1 P4HTM|CCDS2781.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 P4HTM|CCDS2781.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 2 5 4 23 24 23 24 5 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664834987 3 145195243 CTGTT C 504 PASS - - - - - Del - D 145195243 145195250 4 28 482.86 - - 1 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 6 3 8 4 20 16 20 16 8 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664841561 3 170045976 C CTGTGCGTTTACAATCAGTGTTACTGATTGTAAA 290 PASS - - - - - Ins - I 170045976 170045977 33 27 336.694 - - 0 1 1 - - ./. 0 0 0 0 12 6 13 6 0 0 ./. 2 8 0 0 18 17 19 19 2 8 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664844709 3 181921076 AAAC A 420 PASS - - - - - Del - D 181921076 181921083 3 18 376.026 - - 2 1 1 - - ./. 0 0 0 0 6 21 6 21 0 0 ./. 2 5 3 6 25 24 25 24 3 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664847678 3 191782019 A AT 480 PASS - - - - - Ins - I 191782019 191782026 1 24 418.907 - - 6 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 3 5 8 11 24 50 24 50 8 11 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664858076 4 30030411 GATAA G 300 PASS ENSG00000237496 ENST00000424014 r.? - - Del intronic D 30030411 30030424 4 12 267.732 - - 3 1 1 ENSG00000237496|ENST00000424014|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237496|ENST00000424014|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 3 5 6 29 24 29 24 5 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664858501 4 31699919 C CT 540 PASS - - - - - Ins - I 31699919 31699926 1 30 472.767 - - 6 1 1 - - ./. 0 0 0 0 24 10 25 10 0 0 ./. 4 5 9 6 32 20 32 20 9 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664867504 4 61685933 GC G 900 PASS - - - - - Del - D 61685933 61685937 1 72 805.003 - - 3 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 8 7 12 7 24 24 24 24 12 7 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664870184 4 69877118 GTTTTATGTA G 261 PASS UGT2B11 CCDS3527.1 r.? - - Del intronic D 69877118 69877129 9 30 483.002 - - 1 1 1 UGT2B11|CCDS3527.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 UGT2B11|CCDS3527.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 5 4 6 8 25 40 25 40 6 8 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664876235 4 91591012 C CT 480 PASS FAM190A CCDS47100.1 r.? - - Ins intronic I 91591012 91591020 1 24 417.896 - - 7 1 1 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 24 14 25 0 0 ./. 3 5 4 6 37 41 38 41 4 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664877743 4 97928655 A ATGTG 360 PASS - - - - - Ins - I 97928655 97928674 4 7 306.95 - - 9 1 - - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 0 6 1 0 40 42 41 42 1 6 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664879233 4 104118879 CT C 1169 PASS CENPE CCDS34042.1 r.? - - Del intronic D 104118879 104118883 1 112 1072.73 - - 3 1 1 CENPE|CCDS34042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CENPE|CCDS34042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 13 7 14 12 43 40 43 40 14 12 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664880253 4 108435160 ATAC A 300 PASS - - - - - Del - D 108435160 108435170 3 12 268.334 - - 3 1 1 - - ./. 0 0 0 0 26 28 26 28 0 0 ./. 2 3 3 3 32 30 32 30 3 3 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664887471 4 132054569 G GA 780 PASS - - - - - Ins - I 132054569 132054579 1 54 685.026 - - 9 1 1 - - ./. 0 0 0 0 16 23 16 23 0 0 ./. 8 5 10 7 30 29 33 29 10 7 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664898368 4 167397700 AT A 600 PASS - - - - - Del - D 167397700 167397709 1 35 536.668 - - 8 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 4 6 4 7 31 41 31 41 4 7 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664923724 5 56167737 C CA 600 PASS MAP3K1 CCDS43318.1 r.1302_1303insa c.1302_1303insA p.I435fs*4 Ins frameshift I 56167737 56167739 1 20 531.351 - - 1 1 1 MAP3K1|CCDS43318.1|r.1302_1303insa|c.1302_1303insA|p.I435fs*4|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 MAP3K1|CCDS43318.1|r.1302_1303insa|c.1302_1303insA|p.I435fs*4|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 17 13 17 13 0 0 ./. 9 1 10 2 42 22 42 23 10 2 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664923729 5 56183325 C CA 1140 PASS MAP3K1 CCDS43318.1 r.4235_4236insa c.4235_4236insA p.I1413fs*7 Ins frameshift I 56183325 56183328 1 110 1009.51 - - 2 1 1 MAP3K1|CCDS43318.1|r.4235_4236insa|c.4235_4236insA|p.I1413fs*7|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 MAP3K1|CCDS43318.1|r.4235_4236insa|c.4235_4236insA|p.I1413fs*7|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 16 11 16 11 0 0 ./. 10 9 13 9 30 29 30 29 13 9 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664957600 6 6370701 GACAAA G 300 PASS - - - - - Del - D 6370701 6370708 5 10 268.971 - - 1 1 1 - - ./. 0 0 0 0 26 20 26 20 0 0 ./. 4 1 4 1 14 16 14 16 4 1 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664985377 6 98623997 GA G 360 PASS - - - - - Del - D 98623997 98624002 1 15 321.561 - - 4 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 2 4 4 7 21 30 21 30 4 7 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2664987016 6 104744707 CA C 300 PASS - - - - - Del - D 104744707 104744712 1 10 268.369 - - 4 1 1 - - ./. 0 0 0 0 23 20 23 20 0 0 ./. 4 1 5 4 23 19 23 19 5 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665028507 7 82729029 GTATC G 685 PASS PCLO CCDS47630.1 r.? - - Del intronic D 82729029 82729035 4 64 752.35 - - 1 1 1 PCLO|CCDS47630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCLO|CCDS47630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 7 7 8 7 31 42 31 42 8 7 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665029555 7 85843515 TA T 809 PASS - - - - - Del - D 85843515 85843520 1 55 753.555 - - 4 1 1 - - ./. 0 0 0 0 19 21 19 21 0 0 ./. 10 4 12 5 20 17 20 17 12 5 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665032499 7 97711100 A ATAAATATATATATGAATATAATATC 263 PASS - - - - - Ins - I 97711100 97711121 25 16 310.191 - - 0 1 - - - ./. 0 0 0 0 12 10 13 10 0 0 ./. 1 7 0 0 14 13 14 13 1 7 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665041993 7 131841638 GC G 629 PASS PLXNA4 CCDS43646.1 r.? - - Del intronic D 131841638 131841641 1 40 592.079 - - 2 1 1 PLXNA4|CCDS43646.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNA4|CCDS43646.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 12 21 12 0 0 ./. 7 4 7 5 23 18 23 18 7 5 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665063833 8 53783037 TC T 360 PASS - - - - - Del - D 53783037 53783039 1 7 312.217 - - 1 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 6 0 10 0 51 44 51 44 10 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665069613 8 72343151 AAC A 300 PASS - - - - - Del - D 72343151 72343156 2 6 268.108 - - 2 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 5 0 7 0 60 49 60 49 7 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665069972 8 73218440 TTGA T 1744 PASS - - - - - Del - D 73218440 73218446 3 266 1665.4 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 13 18 22 23 52 49 52 49 22 23 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665070520 8 74824404 C CT 360 PASS - - - - - Ins - I 74824404 74824406 1 16 316.431 - - 1 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 3 3 3 4 44 29 44 31 3 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665071665 8 78307203 T TA 300 PASS - - - - - Ins - I 78307203 78307205 1 6 262.087 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 5 0 14 0 55 53 55 53 14 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665072799 8 81964380 AG A 269 PASS PAG1 CCDS6227.1 r.? - - Del intronic D 81964380 81964382 1 6 254.26 - - 1 1 1 PAG1|CCDS6227.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PAG1|CCDS6227.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 0 11 0 54 45 54 45 11 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665076095 8 92739334 GA G 420 PASS - - - - - Del - D 92739334 92739339 1 20 374.99 - - 4 1 1 - - ./. 0 0 0 0 16 25 16 25 0 0 ./. 4 3 5 4 44 63 44 63 5 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665079495 8 102698421 GTTAT G 480 PASS NCALD CCDS6292.1 r.? - - Del downstream D 102698421 102698432 4 21 429.333 - - 2 1 1 NCALD|CCDS6292.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 NCALD|CCDS6292.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 18 9 18 9 0 0 ./. 2 6 3 9 49 53 49 53 3 9 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665082793 8 112304194 T TG 300 PASS - - - - - Ins - I 112304194 112304196 1 12 265.699 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 16 0 0 ./. 2 3 2 3 39 47 41 47 2 3 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665087218 8 124529342 AAC A 420 PASS FBXO32 CCDS6345.1 r.? - - Del intronic D 124529342 124529346 2 18 376.194 - - 1 1 1 FBXO32|CCDS6345.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXO32|CCDS6345.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 2 6 2 56 30 56 30 6 2 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665090532 8 134727820 TG T 269 PASS - - - - - Del - D 134727820 134727822 1 6 247.036 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 0 11 0 65 15 65 15 11 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665090592 8 134997574 G GT 1380 PASS - - - - - Ins - I 134997574 134997580 1 154 1219.81 - - 5 1 1 - - ./. 0 0 0 0 8 18 8 19 0 0 ./. 13 10 17 18 42 43 43 43 17 18 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665097854 9 12274280 T TAC 300 PASS - - - - - Ins - I 12274280 12274294 2 10 263.917 - - 6 1 - - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 1 4 3 8 26 29 27 29 3 8 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665098817 9 15769452 AC A 720 PASS C9orf93 CCDS6481.1 r.? - - Del intronic D 15769452 15769454 1 49 647.248 - - 1 1 1 C9orf93|CCDS6481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9orf93|CCDS6481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 30 9 30 0 0 ./. 6 6 9 9 22 25 22 25 9 9 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665099908 9 19497097 C CAAA 449 PASS - - - - - Ins - I 19497097 19497099 3 24 417.451 - - 1 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 5 3 5 12 16 12 16 3 5 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665102392 9 29379399 GT G 300 PASS - - - - - Del - D 29379399 29379401 1 6 268.131 - - 1 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 0 5 0 27 14 27 14 5 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665107021 9 68403193 GAA G 476 PASS - - - - - Del - D 68403193 68403198 2 14 699.429 - - 4 1 1 - - ./. 0 0 0 0 212 136 212 136 0 0 ./. 13 0 16 0 186 121 186 121 16 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665107836 9 68729126 ACT A 333 PASS - - - - - Del - D 68729126 68729133 2 10 485.887 - - 3 1 1 - - ./. 0 0 0 0 153 132 153 132 0 0 ./. 0 9 0 12 139 217 139 217 0 12 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665108007 9 69067554 TG T 256 PASS - - - - - Del - D 69067554 69067559 1 11 539.875 - - 4 1 1 - - ./. 0 0 0 0 22 37 22 37 0 0 ./. 10 0 10 0 59 16 59 16 10 0 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665144350 X 108845755 TA T 420 PASS - - - - - Del - D 108845755 108845759 1 20 377.782 - - 3 1 1 - - ./. 0 0 0 0 26 15 26 15 0 0 ./. 4 3 5 4 25 20 25 20 5 4 1 1 1 1 1 1 1 1 2577887 PD4075a PD4075b 2665145793 X 117081056 AT A 840 PASS KLHL13 CCDS14571.1 r.? - - Del intronic D 117081056 117081058 1 63 755.563 - - 1 1 1 KLHL13|CCDS14571.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KLHL13|ENST00000371876|r.849delA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 11 19 11 19 0 0 ./. 6 8 10 11 23 21 23 21 10 11 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663309421 1 14143866 TC T 540 PASS PRDM2 CCDS150.1 r.? - - Del intronic D 14143866 14143869 1 28 482.841 - - 2 1 1 PRDM2|CCDS150.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 PRDM2|CCDS150.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 6 5 9 23 33 23 33 5 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663310615 1 16946455 T TGCTCACGCTGCA 290 PASS AL355149.1 ENST00000515775 r.? - - Ins intronic I 16946455 16946471 12 11 461.232 - - 1 1 1 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 10 0 10 0 77 56 79 57 12 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663319158 1 46350224 A AAAAT 277 PASS MAST2 CCDS41326.1 r.? - - Ins intronic I 46350224 46350248 4 12 256.204 - - 5 1 - MAST2|CCDS41326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAST2|CCDS41326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 25 19 25 0 0 ./. 2 3 3 3 26 28 26 28 3 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663319264 1 46689376 T TA 480 PASS C1orf190 CCDS30703.1 r.? - - Ins downstream I 46689376 46689381 1 24 423.773 - - 4 1 1 C1orf190|CCDS30703.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 POMGNT1|ENST00000371992|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 17 11 17 11 0 0 ./. 5 3 6 6 23 33 23 33 6 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663320786 1 53637581 T TA 420 PASS - - - - - Ins - I 53637581 53637591 1 20 370.124 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 10 0 0 ./. 4 3 7 3 25 22 25 22 7 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663326838 1 75942885 G GC 258 PASS SLC44A5 CCDS667.1 r.? - - Ins intronic I 75942885 75942886 1 35 530.469 - - 0 1 1 SLC44A5|CCDS667.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC44A5|CCDS667.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 6 4 8 20 18 20 18 4 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663329029 1 82939737 TAC T 300 PASS - - - - - Del - D 82939737 82939741 2 12 268.245 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 3 3 5 19 33 19 33 3 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663333919 1 100189071 C CA 540 PASS FRRS1 CCDS30780.1 r.? - - Ins intronic I 100189071 100189080 1 30 476.82 - - 8 1 1 FRRS1|CCDS30780.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FRRS1|CCDS30780.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 17 10 18 0 0 ./. 4 5 7 8 27 23 27 23 7 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663338781 1 117716354 TATTGCTGTAAGTTTATTATT TCAGC 319 PASS VTCN1 CCDS894.1 r.? - - Complex intronic DI 117716355 117716374 20 30 0 - - 0 1 1 VTCN1|CCDS894.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 VTCN1|CCDS894.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 20 7 20 7 0 0 ./. 9 2 0 0 30 13 31 13 9 2 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663343285 1 148676693 G GTATA 271 PASS NBPF15 ENST00000442702 r.? - - Ins intronic I 148676693 148676699 4 54 665.528 - - 2 1 1 NBPF15|ENST00000442702|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NBPF15|ENST00000442702|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 27 19 28 0 0 ./. 8 5 12 5 109 164 109 170 12 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663344544 1 151519202 ATAT A 358 PASS TUFT1 CCDS1000.1 r.? - - Del intronic D 151519202 151519207 3 14 374.941 - - 1 1 1 TUFT1|CCDS1000.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TUFT1|CCDS1000.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 1 6 1 6 40 34 40 34 1 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663346621 1 158688032 AT A 720 PASS OR6K3 CCDS30903.1 r.? - - Del upstream D 158688032 158688041 1 45 643.788 - - 8 1 1 OR6K3|CCDS30903.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 OR6K3|CCDS30903.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 8 9 8 28 36 28 36 9 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663347513 1 161497181 G GGAT 259 PASS HSPA7 CCDS1231.1 r.? - - Ins downstream I 161497181 161497186 3 8 362.9 - - 1 1 1 HSPA7|CCDS1231.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 HSPA7|CCDS1231.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 10 17 10 17 0 0 ./. 7 0 8 0 47 34 47 34 8 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663353751 1 181939492 TA T 540 PASS - - - - - Del - D 181939492 181939502 1 30 482.841 - - 9 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 5 5 7 26 32 26 32 5 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663360339 1 202669894 TTTGA T 720 PASS SYT2 CCDS1427.1 r.? - - Del intronic D 202669894 202669903 4 48 641.38 - - 2 1 1 SYT2|CCDS1427.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SYT2|CCDS1427.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 7 8 11 30 38 30 38 8 11 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663362273 1 208673518 AAAAG A 720 PASS - - - - - Del - D 208673518 208673534 4 48 643.788 - - 3 1 1 - - ./. 0 0 0 0 8 19 8 19 0 0 ./. 5 7 5 14 27 53 27 53 5 14 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663365915 1 220215519 T TC 300 PASS EPRS CCDS31027.1 r.? - - Ins intronic I 220215519 220215524 1 6 258.612 - - 4 1 1 EPRS|CCDS31027.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPRS|CCDS31027.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 5 0 9 2 27 21 27 21 9 2 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663365958 1 220464206 G GA 480 PASS - - - - - Ins - I 220464206 220464214 1 16 424.375 - - 7 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 7 1 9 4 46 37 46 37 9 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663366483 1 222513831 CA C 540 PASS - - - - - Del - D 222513831 222513837 1 30 482.841 - - 5 1 1 - - ./. 0 0 0 0 27 3 27 3 0 0 ./. 5 4 8 4 50 31 50 31 8 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663373603 1 243603552 TAAATA T 656 PASS SDCCAG8 CCDS31075.1 r.? - - Del intronic D 243603552 243603564 5 50 696.835 - - 2 1 1 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 9 4 11 5 40 35 40 35 11 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663377811 10 5250277 AT A 480 PASS AKR1C4 CCDS7064.1 r.? - - Del intronic D 5250277 5250281 1 25 431.049 - - 3 1 1 AKR1C4|CCDS7064.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AKR1C4|CCDS7064.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 4 7 5 32 23 32 23 7 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663378941 10 8111491 C CACTCTGG 464 PASS GATA3 CCDS31143.1 r.1548_1549insacucugg c.980_981insACTCTGG p.R330fs*25 Ins frameshift I 8111491 8111500 7 81 794.065 - - 1 1 1 GATA3|CCDS31143.1|r.1548_1549insacucugg|c.980_981insACTCTGG|p.R330fs*25|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 GATA3|CCDS31143.1|r.1548_1549insacucugg|c.980_981insACTCTGG|p.R330fs*25|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 11 23 11 23 0 0 ./. 8 8 8 10 34 23 34 23 8 10 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663381581 10 15075230 AG A 480 PASS OLAH ENST00000428897 r.? - - Del intronic D 15075230 15075232 1 24 431.049 - - 1 1 1 OLAH|ENST00000428897|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 OLAH|ENST00000428897|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 5 3 5 5 24 16 24 16 5 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663385573 10 27723196 AT A 780 PASS - - - - - Del - D 27723196 27723198 1 56 700.454 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 7 6 8 23 26 23 26 6 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663387759 10 34527519 T TA 540 PASS PARD3 CCDS7178.1 r.? - - Ins intronic I 34527519 34527529 1 28 477.705 - - 9 1 1 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 29 23 29 24 0 0 ./. 6 3 7 4 29 27 30 27 7 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663388095 10 35772424 GTTTCTTTTTGTAA G 493 PASS CCNY CCDS7189.1 r.? - - Del intronic D 35772424 35772438 13 90 915.979 - - 1 1 1 CCNY|CCDS7189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCNY|CCDS7189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 9 8 9 8 20 18 20 19 9 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663390888 10 43948370 CT C 300 PASS ZNF487 ENST00000437590 r.? - - Del intronic D 43948370 43948378 1 6 269.405 - - 7 1 1 ZNF487|ENST00000437590|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF487|ENST00000437590|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 0 7 1 29 22 29 22 7 1 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663394648 10 58957317 A AT 329 PASS - - - - - Ins - I 58957317 58957326 1 15 319.674 - - 8 1 1 - - ./. 0 0 0 0 22 7 22 7 0 0 ./. 4 2 5 5 22 33 23 33 5 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663396194 10 63657794 C CT 300 PASS ARID5B CCDS31208.1 r.? - - Ins upstream I 63657794 63657803 1 6 265.191 - - 8 1 1 ARID5B|CCDS31208.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ARID5B|CCDS31208.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 23 21 24 21 0 0 ./. 0 5 3 5 26 24 26 24 3 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663399555 10 73673299 G GT 1260 PASS - - - - - Ins - I 73673299 73673307 1 120 1107.42 - - 7 1 1 - - ./. 0 0 0 0 6 13 6 14 0 0 ./. 14 7 17 7 32 29 33 30 17 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663406094 10 97458418 AG A 660 PASS TCTN3 CCDS31258.2 r.? - - Del upstream D 97458418 97458422 1 36 590.284 - - 3 1 1 TCTN3|CCDS31258.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TCTN3|CCDS31258.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 8 5 10 14 19 14 19 5 10 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663419678 11 6376654 T TATTCATTC 406 PASS - - - - - Ins - I 6376654 6376687 8 63 688.666 - - 8 1 - - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 8 7 7 24 31 24 33 7 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663424557 11 23294795 CA C 900 PASS - - - - - Del - D 23294795 23294797 1 70 807.093 - - 1 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 6 9 7 10 22 23 22 23 7 10 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663435664 11 64012014 AAC A 300 PASS PPP1R14B CCDS31596.1 r.922_923delGU c.? p.? Del 3'UTR variant D 64012014 64012020 2 12 268.83 - - 2 1 1 PPP1R14B|CCDS31596.1|r.922_923delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PPP1R14B|CCDS31596.1|r.922_923delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 6 17 6 17 0 0 ./. 3 2 6 3 10 13 10 13 6 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663445751 11 100311010 CT C 420 PASS - - - - - Del - D 100311010 100311014 1 18 378.048 - - 3 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 5 2 6 4 27 17 27 17 6 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663448545 11 108989814 AC A 385 PASS - - - - - Del - D 108989814 108989816 1 30 485.46 - - 1 1 1 - - ./. 0 0 0 0 8 3 8 3 0 0 ./. 4 5 5 7 18 15 18 15 5 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663454619 11 130565804 C CA 420 PASS C11orf44 ENST00000317019 r.? - - Ins intronic I 130565804 130565808 1 20 373.834 - - 3 1 1 C11orf44|ENST00000317019|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C11orf44|ENST00000317019|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 3 5 4 17 18 17 18 5 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663457373 12 6022910 AAATG A 269 PASS ANO2 CCDS44807.1 r.? - - Del intronic D 6022910 6022916 4 10 267.771 - - 1 1 1 ANO2|CCDS44807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO2|CCDS44807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 6 15 6 0 0 ./. 1 4 1 4 25 19 25 19 1 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663461051 12 16481992 CAT C 540 PASS - - - - - Del - D 16481992 16481995 2 30 484.637 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 4 6 6 29 25 29 25 6 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663467980 12 40701235 G GT 480 PASS LRRK2 CCDS31774.1 r.? - - Ins intronic I 40701235 40701242 1 25 426.507 - - 6 1 1 LRRK2|CCDS31774.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRK2|CCDS31774.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 4 9 7 31 31 31 31 9 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663469890 12 46546349 A ATT 900 PASS - - - - - Ins - I 46546349 46546352 2 72 790.67 - - 2 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 8 7 9 9 46 33 47 34 9 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663470827 12 49737520 ATTTTTTTTTTTTTTTTTTTTTTTTTT A 261 PASS DNAJC22 CCDS8785.1 r.? - - Del upstream D 49737520 49737565 26 24 465.973 - - 1 1 - DNAJC22|CCDS8785.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 DNAJC22|CCDS8785.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 6 7 6 7 0 0 ./. 7 2 4 1 26 14 29 15 7 2 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663470848 12 49840602 TTTGA T 569 PASS SPATS2 CCDS31794.1 r.? - - Del intronic D 49840602 49840611 4 35 539.154 - - 2 1 1 SPATS2|CCDS31794.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SPATS2|CCDS31794.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 6 5 9 29 32 29 32 5 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663476151 12 68675925 CT C 660 PASS - - - - - Del - D 68675925 68675928 1 42 593.07 - - 2 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 5 6 6 7 29 29 29 29 6 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663481592 12 86571198 TAAAC T 300 PASS - - - - - Del - D 86571198 86571206 4 10 269.577 - - 1 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 1 4 4 5 33 36 33 36 4 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663487371 12 105211373 C CT 480 PASS SLC41A2 CCDS9100.2 r.? - - Ins intronic I 105211373 105211383 1 25 425.905 - - 9 1 1 SLC41A2|CCDS9100.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC41A2|CCDS9100.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 4 4 5 34 41 35 41 4 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663488293 12 108542781 AC A 720 PASS WSCD2 CCDS41828.1 r.? - - Del intronic D 108542781 108542786 1 49 639.159 - - 4 1 1 WSCD2|CCDS41828.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 WSCD2|CCDS41828.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 6 11 11 32 31 32 31 11 11 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663488398 12 108930161 AG A 540 PASS SART3 CCDS9117.1 r.? - - Del intronic D 108930161 108930164 1 30 485.239 - - 2 1 1 SART3|CCDS9117.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SART3|CCDS9117.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 5 5 6 27 35 27 35 5 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663490217 12 115439803 GA G 300 PASS - - - - - Del - D 115439803 115439806 1 12 269.577 - - 2 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 3 6 7 40 28 40 28 6 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663493579 12 124609247 G GT 300 PASS - - - - - Ins - I 124609247 124609255 1 10 265.965 - - 7 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 1 4 4 6 30 34 30 35 4 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663495171 12 129096945 A AT 780 PASS TMEM132C CCDS45009.1 r.? - - Ins intronic I 129096945 129096955 1 56 692.472 - - 9 1 1 TMEM132C|CCDS45009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM132C|CCDS45009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 20 11 20 0 0 ./. 6 7 7 11 27 41 29 41 7 11 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663512105 13 69728399 A AT 540 PASS - - - - - Ins - I 69728399 69728407 1 28 481.887 - - 7 1 1 - - ./. 0 0 0 0 12 13 13 13 0 0 ./. 3 6 5 10 19 21 19 23 5 10 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663512807 13 71667972 AC A 300 PASS - - - - - Del - D 71667972 71667974 1 6 270.725 - - 1 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 0 7 1 25 13 25 13 7 1 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663513166 13 73061160 ATGT A 269 PASS - - - - - Del - D 73061160 73061167 3 12 270.725 - - 2 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 2 4 21 13 21 13 2 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663516235 13 83830592 A AT 360 PASS - - - - - Ins - I 83830592 83830599 1 16 315.237 - - 6 1 1 - - ./. 0 0 0 0 12 14 12 15 0 0 ./. 3 3 5 4 21 23 21 24 5 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663532517 14 41364077 C CA 269 PASS - - - - - Ins - I 41364077 41364078 1 12 263.359 - - 0 1 1 - - ./. 0 0 0 0 13 14 14 14 0 0 ./. 2 3 4 6 24 18 24 18 4 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663533683 14 44810662 AC A 360 PASS - - - - - Del - D 44810662 44810664 1 7 321.691 - - 1 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 6 0 12 0 24 21 24 21 12 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663535440 14 50429107 A AG 300 PASS AL117692.1 ENST00000510752 r.? - - Ins upstream I 50429107 50429108 1 12 267.574 - - 0 1 1 AL117692.1|ENST00000510752|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 AL117692.1|ENST00000510752|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 ./. 0 0 0 0 13 14 14 14 0 0 ./. 2 3 3 6 17 33 17 33 3 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663535592 14 50826601 CAT C 449 PASS CDKL1 CCDS9699.1 r.? - - Del intronic D 50826601 50826605 2 24 431.731 - - 1 1 1 CDKL1|CCDS9699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDKL1|CCDS9699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 3 5 3 28 15 28 15 5 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663539256 14 63246269 GT G 360 PASS KCNH5 CCDS9756.1 r.? - - Del intronic D 63246269 63246277 1 15 324.099 - - 7 1 1 KCNH5|CCDS9756.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH5|CCDS9756.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 4 5 7 27 33 27 33 5 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663546336 14 86746203 CTT C 420 PASS - - - - - Del - D 86746203 86746207 2 20 378.216 - - 3 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 4 4 5 31 29 31 29 4 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663546584 14 87495838 GATA G 360 PASS - - - - - Del - D 87495838 87495844 3 15 324.701 - - 1 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 2 4 3 5 25 25 25 25 3 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663549548 14 97327192 CA C 540 PASS VRK1 CCDS9947.1 r.? - - Del intronic D 97327192 97327196 1 30 487.052 - - 3 1 1 VRK1|CCDS9947.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VRK1|CCDS9947.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 27 12 27 0 0 ./. 5 4 6 4 28 26 28 26 6 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663549925 14 98726947 AAACTTT A 319 PASS - - - - - Del - D 98726947 98726960 6 40 595.285 - - 2 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 7 4 6 7 25 25 26 25 7 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663555427 15 26089751 GC G 480 PASS ATP10A CCDS32178.1 r.? - - Del intronic D 26089751 26089758 1 25 430.544 - - 6 1 1 ATP10A|CCDS32178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP10A|CCDS32178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 4 4 4 4 14 17 14 17 4 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663558845 15 38410673 CTATCATGAAGAGATCCTT C 319 PASS - - - - - Del - D 38410673 38410693 18 36 593.126 - - 1 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 8 3 8 3 14 3 14 3 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663565507 15 62292406 C CA 300 PASS VPS13C CCDS32257.1 r.? - - Ins intronic I 62292406 62292416 1 12 267.961 - - 9 1 1 VPS13C|CCDS32257.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS13C|CCDS32257.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 3 5 12 14 12 14 3 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663566548 15 65677230 TCCTCTTCACAAGCACAGAGACCCTTTCCTCCTTTCCTG T 348 PASS IGDCC4 CCDS10206.1 r.? - - Del intronic D 65677230 65677271 38 40 645.514 - - 1 1 1 IGDCC4|CCDS10206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGDCC4|CCDS10206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 0 13 0 13 0 0 ./. 3 9 2 4 5 7 7 12 4 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663569206 15 76726087 TC T 360 PASS SCAPER ENST00000303521 r.? - - Del intronic D 76726087 76726090 1 15 325.165 - - 2 1 1 SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 2 5 3 17 16 17 16 5 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663570169 15 80516771 CCTT C 476 PASS - - - - - Del - D 80516771 80516778 3 32 541.34 - - 2 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 7 3 8 7 18 16 18 16 8 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663573841 15 94537858 C CT 360 PASS - - - - - Ins - I 94537858 94537865 1 15 321.553 - - 6 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 4 3 8 24 32 24 34 3 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663575648 15 100438463 AAG A 854 PASS - - - - - Del - D 100438463 100438472 2 66 810.505 - - 4 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 5 10 10 14 30 38 30 38 10 14 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663578028 16 5724196 ACCAA AAC 329 PASS - - - - - Complex - DI 5724197 5724200 4 16 0 - - 0 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 3 0 0 22 23 22 23 3 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663578587 16 7166167 A AT 360 PASS - - - - - Ins - I 7166167 7166173 1 15 318.891 - - 5 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 2 6 4 34 22 34 22 6 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663580558 16 11796515 CAG C 480 PASS TXNDC11 CCDS32387.1 r.? - - Del intronic D 11796515 11796520 2 21 430.205 - - 2 1 1 TXNDC11|CCDS32387.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TXNDC11|CCDS32387.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 2 6 3 6 8 31 8 31 3 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663583612 16 21518374 CAGAA C 805 PASS - - - - - Del - D 21518374 21518380 4 77 865.227 - - 1 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 6 10 7 11 23 37 23 37 7 11 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663586826 16 32138584 A AT 251 PASS - - - - - Ins - I 32138584 32138591 1 20 373.645 - - 6 1 1 - - ./. 0 0 0 0 42 51 42 51 0 0 ./. 3 4 6 4 82 103 83 104 6 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663591478 16 54492727 TTTTG T 300 PASS ENSG00000227093 ENST00000449142 r.? - - Del intronic D 54492727 54492743 4 6 270.76 - - 3 1 1 ENSG00000227093|ENST00000449142|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000227093|ENST00000449142|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 0 5 1 20 13 20 13 5 1 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663596514 16 73828834 TA T 420 PASS - - - - - Del - D 73828834 73828842 1 18 379.064 - - 7 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 5 3 7 11 11 11 11 3 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663602302 17 2526862 G GT 300 PASS PAFAH1B1 CCDS32528.1 r.? - - Ins intronic I 2526862 2526872 1 10 262.442 - - 9 1 1 PAFAH1B1|CCDS32528.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PAFAH1B1|CCDS32528.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 4 4 5 16 14 16 14 4 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663602524 17 3174023 CCTG CA 1165 PASS - - - - - Complex - DI 3174024 3174026 3 140 0 - - 0 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 9 13 0 0 15 29 15 29 9 13 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663603510 17 6030241 GTCTAACATTCA G 261 PASS WSCD1 CCDS32538.1 r.? - - Del downstream D 6030241 6030254 11 28 485.882 - - 1 1 1 WSCD1|CCDS32538.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 WSCD1|CCDS32538.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 26 17 26 0 0 ./. 3 6 4 6 17 14 17 14 4 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663603591 17 6309706 TAAATAAA T 263 PASS - - - - - Del - D 6309706 6309714 7 21 432.43 - - 1 1 - - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 2 4 2 14 14 15 14 6 2 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663605681 17 12593948 CG C 720 PASS MYOCD CCDS11163.1 r.? - - Del intronic D 12593948 12593950 1 49 647.441 - - 1 1 1 MYOCD|CCDS11163.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYOCD|CCDS11163.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 6 6 6 7 14 26 15 26 6 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663607835 17 20536462 CG C 884 PASS - - - - - Del - D 20536462 20536464 1 132 1133.93 - - 1 1 1 - - ./. 0 0 0 0 8 2 8 2 0 0 ./. 10 11 13 12 18 21 18 21 13 12 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663612373 17 37129977 C CA 360 PASS - - - - - Ins - I 37129977 37129987 1 16 320.71 - - 9 1 1 - - ./. 0 0 0 0 18 16 19 16 0 0 ./. 3 3 6 4 20 16 20 16 6 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663614633 17 45349025 AT A 300 PASS ITGB3 CCDS11511.1 r.? - - Del intronic D 45349025 45349027 1 10 269.065 - - 1 1 1 ITGB3|CCDS11511.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGB3|CCDS11511.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 4 2 6 18 22 18 22 2 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663614961 17 46208128 C CT 1463 PASS SKAP1 CCDS32674.1 r.? - - Ins downstream I 46208128 46208137 1 176 1487.02 - - 8 1 - SKAP1|CCDS32674.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SKAP1|CCDS32674.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 21 15 22 15 0 0 ./. 7 21 18 29 67 72 71 72 18 29 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663615372 17 47298224 AAT A 1998 PASS PHOSPHO1 CCDS45726.1 r.? - - Del downstream D 47298224 47298228 2 368 1989.15 - - 1 1 - PHOSPHO1|CCDS45726.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ABI3|CCDS11546.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 3 9 3 0 0 ./. 22 15 25 15 49 34 49 34 25 15 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663618515 17 55807543 GGT G 569 PASS - - - - - Del - D 55807543 55807549 2 11 526.69 - - 2 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 10 0 12 0 64 46 64 46 12 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663618686 17 56221234 TC T 360 PASS - - - - - Del - D 56221234 56221236 1 7 320.108 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 0 10 0 67 61 67 61 10 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663620224 17 60182098 C CCT 269 PASS - - - - - Ins - I 60182098 60182099 2 6 261.84 - - 0 1 - - - ./. 0 0 0 0 14 9 14 11 0 0 ./. 0 5 0 3 47 55 48 55 0 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663620296 17 60375582 CAG C 329 PASS ENSG00000238209 ENST00000424665 r.? - - Del upstream D 60375582 60375587 2 16 809.603 - - 2 1 1 ENSG00000238209|ENST00000424665|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000238209|ENST00000424665|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 4 10 4 0 0 ./. 0 15 0 17 66 49 66 49 0 17 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663620585 17 61032211 G GT 540 PASS - - - - - Ins - I 61032211 61032220 1 28 473.841 - - 8 1 1 - - ./. 0 0 0 0 15 15 15 16 0 0 ./. 6 3 7 5 94 63 96 63 7 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663620687 17 61365061 TG T 300 PASS TANC2 CCDS45754.1 r.? - - Del intronic D 61365061 61365063 1 6 264.85 - - 1 1 1 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 5 0 10 0 73 57 73 58 10 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663620839 17 61872010 A AT 329 PASS DDX42 CCDS32704.1 r.? - - Ins intronic I 61872010 61872014 1 15 313.486 - - 3 1 1 DDX42|CCDS32704.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DDX42|CCDS32704.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 4 5 6 58 67 59 70 5 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663620855 17 61908067 TG T 300 PASS FTSJ3 CCDS11644.1 r.? - - Del upstream D 61908067 61908069 1 6 266.055 - - 1 1 1 FTSJ3|CCDS11644.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PSMC5|CCDS11645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 5 0 9 0 57 62 57 62 9 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663622341 17 65624060 TG T 300 PASS PITPNC1 ENST00000423236 r.? - - Del intronic D 65624060 65624062 1 6 269.065 - - 1 1 1 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 0 10 0 45 36 45 36 10 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663623250 17 67779439 T TA 480 PASS - - - - - Ins - I 67779439 67779447 1 24 427.614 - - 7 1 1 - - ./. 0 0 0 0 19 15 19 16 0 0 ./. 3 5 3 6 36 56 36 56 3 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663623738 17 69168939 ACT A 420 PASS - - - - - Del - D 69168939 69168944 2 18 376.57 - - 2 1 1 - - ./. 0 0 0 0 16 24 16 24 0 0 ./. 2 5 3 7 51 46 51 46 3 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663624866 17 72328353 G GTT 269 PASS KIF19 CCDS32718.2 r.? - - Ins intronic I 72328353 72328355 2 10 255.217 - - 1 1 - KIF19|CCDS32718.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIF19|CCDS32718.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 7 4 9 0 0 ./. 1 4 2 7 21 41 23 41 2 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663626893 17 77166222 G GGGAAGGAA 261 PASS ENSG00000167281 CCDS45805.1 r.? - - Ins intronic I 77166222 77166237 8 28 438.319 - - 3 1 1 ENSG00000167281|CCDS45805.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENSG00000167281|CCDS45805.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 8 3 8 0 0 ./. 6 3 6 1 36 41 36 41 6 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663630607 18 6163504 AC A 1020 PASS L3MBTL4 CCDS11839.2 r.? - - Del intronic D 6163504 6163506 1 48 918.694 - - 1 1 1 L3MBTL4|CCDS11839.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 L3MBTL4|CCDS11839.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 15 2 19 2 38 11 38 11 19 2 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663635288 18 22071544 A AT 780 PASS - - - - - Ins - I 22071544 22071548 1 26 695.483 - - 3 1 1 - - ./. 0 0 0 0 11 3 11 3 0 0 ./. 12 1 15 2 40 13 40 14 15 2 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663636881 18 27309343 G GA 1080 PASS - - - - - Ins - I 27309343 27309353 1 99 956.586 - - 9 1 1 - - ./. 0 0 0 0 22 12 24 12 0 0 ./. 8 10 10 15 32 30 32 30 10 15 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663647133 18 63945146 A AT 660 PASS - - - - - Ins - I 63945146 63945154 1 42 588.995 - - 7 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 5 6 6 8 22 30 23 30 6 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663648114 18 66590608 T TA 300 PASS CCDC102B CCDS11996.2 r.? - - Ins intronic I 66590608 66590613 1 12 267.725 - - 4 1 1 CCDC102B|CCDS11996.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC102B|CCDS11996.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 2 5 3 21 20 21 20 5 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663649342 18 69905834 GA G 480 PASS - - - - - Del - D 69905834 69905839 1 25 433.177 - - 4 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 4 5 6 27 36 27 36 5 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663649466 18 70212139 A AT 420 PASS CBLN2 CCDS11999.1 r.? - - Ins upstream I 70212139 70212149 1 20 374.815 - - 9 1 1 CBLN2|CCDS11999.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 CBLN2|CCDS11999.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 14 5 14 5 0 0 ./. 4 3 5 5 17 21 17 21 5 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663661319 19 33643254 CTATT C 1376 PASS WDR88 CCDS12429.1 r.? - - Del intronic D 33643254 33643264 4 182 1355.82 - - 2 1 1 WDR88|CCDS12429.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR88|CCDS12429.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 13 12 15 13 24 23 24 23 15 14 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663661661 19 34780633 A AT 480 PASS KIAA0355 CCDS12436.1 r.? - - Ins intronic I 34780633 34780634 1 24 429.047 - - 0 1 1 KIAA0355|CCDS12436.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KIAA0355|CCDS12436.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 5 7 8 15 28 16 28 7 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663662361 19 37163219 AT A 1140 PASS - - - - - Del - D 37163219 37163222 1 104 1029.82 - - 2 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 7 12 18 16 26 28 26 28 18 16 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663667690 19 54013600 CG C 480 PASS - - - - - Del - D 54013600 54013605 1 24 431.455 - - 4 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 5 5 5 47 34 47 34 5 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663668283 19 55362026 AAGATATGGGCCTGGAGTGG A 353 PASS KIR3DL2 CCDS12906.1 r.? - - Del intronic D 55362026 55362079 19 44 703.222 - - 2 1 1 KIR3DL2|CCDS12906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIR3DL2|CCDS12906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 1 14 1 0 0 ./. 3 10 0 1 33 44 34 47 3 10 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663671262 2 4594055 TTATC T 420 PASS ENSG00000228584 ENST00000446457 r.? - - Del intronic D 4594055 4594067 4 18 376.18 - - 2 1 - ENSG00000228584|ENST00000446457|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000228584|ENST00000446457|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 5 4 7 34 25 34 25 4 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663679204 2 35201283 GACATAAAAACAGTTC G 290 PASS - - - - - Del - D 35201283 35201303 15 32 537.4 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 7 3 7 3 28 23 28 23 7 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663686360 2 61339580 CAT C 600 PASS KIAA1841 CCDS46296.1 r.? - - Del intronic D 61339580 61339585 2 35 537.4 - - 2 1 1 KIAA1841|CCDS46296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1841|CCDS46296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 22 9 22 0 0 ./. 4 6 5 7 23 25 23 25 5 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663687274 2 65025039 T TGA 660 PASS - - - - - Ins - I 65025039 65025043 2 42 577.292 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 13 0 0 ./. 5 6 6 8 30 24 30 24 6 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663692697 2 85182331 C CA 449 PASS - - - - - Ins - I 85182331 85182340 1 24 423.297 - - 8 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 5 4 7 22 25 22 25 4 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663696006 2 100669073 CCAGA C 389 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100669073 100669082 4 18 376.18 - - 2 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 22 10 22 0 0 ./. 5 2 5 4 19 25 19 25 5 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663697033 2 105206069 CAG C 254 PASS - - - - - Del - D 105206069 105206076 2 12 268.7 - - 3 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 2 5 4 17 18 17 18 5 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663716936 2 179499718 CAA C 420 PASS TTN ENST00000342992 r.? - - Del intronic D 179499718 179499722 2 18 374.374 - - 3 1 1 TTN|ENST00000342992|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TTN|ENST00000342992|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 2 6 5 25 14 25 14 6 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663717631 2 182347054 TA T 480 PASS ITGA4 CCDS42788.1 r.? - - Del intronic D 182347054 182347060 1 21 428.716 - - 5 1 1 ITGA4|CCDS42788.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGA4|CCDS42788.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 6 6 6 20 19 20 19 6 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663717663 2 182446820 CA C 600 PASS CERKL CCDS46466.1 r.? - - Del intronic D 182446820 182446823 1 35 537.4 - - 2 1 1 CERKL|CCDS46466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CERKL|CCDS46466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 6 4 7 8 33 16 33 16 7 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663723060 2 202268480 A AG 420 PASS TRAK2 CCDS2347.1 r.? - - Ins intronic I 202268480 202268481 1 14 371.363 - - 0 1 1 TRAK2|CCDS2347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRAK2|CCDS2347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 6 5 6 23 17 23 17 5 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663739356 20 13449457 G GA 418 PASS TASP1 CCDS13116.1 r.? - - Ins intronic I 13449457 13449466 1 24 427.988 - - 8 1 1 TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 5 4 9 28 45 28 46 4 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663746056 20 36075142 C CTTCCTTCCTTCCTTCTTCCCTCCTTTCT 300 PASS - - - - - Ins - I 36075142 36075158 28 10 177.936 - - 0 1 - - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 1 4 0 0 28 29 31 29 1 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663747971 20 43482165 A AT 360 PASS - - - - - Ins - I 43482165 43482173 1 12 321.894 - - 7 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 5 1 6 2 22 27 22 27 6 2 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663758335 21 14702519 ATCTC A 259 PASS - - - - - Del - D 14702519 14702528 4 12 596.548 - - 4 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 11 0 14 0 33 19 33 19 14 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663759990 21 20154603 TA T 360 PASS - - - - - Del - D 20154603 20154608 1 12 326.047 - - 4 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 1 5 4 11 22 31 22 31 4 11 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663775061 22 33241215 C CA 389 PASS TIMP3 CCDS13911.1 r.? - - Ins intronic I 33241215 33241216 1 20 377.977 - - 0 1 1 TIMP3|CCDS13911.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TIMP3|CCDS13911.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 4 6 5 18 20 18 20 6 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663787266 3 22089295 A AT 1080 PASS - - - - - Ins - I 22089295 22089302 1 100 955.77 - - 6 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 9 9 16 15 41 45 41 45 16 15 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663792976 3 42060664 C CT 360 PASS - - - - - Ins - I 42060664 42060673 1 16 318.791 - - 8 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 3 4 4 30 32 30 32 4 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663795987 3 53250947 TG T 360 PASS - - - - - Del - D 53250947 53250953 1 16 321.199 - - 5 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 3 3 4 23 31 23 31 3 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663797425 3 58011135 G GC 269 PASS FLNB CCDS2885.1 r.? - - Ins intronic I 58011135 58011137 1 12 265.659 - - 1 1 1 FLNB|CCDS2885.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FLNB|CCDS2885.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 3 4 20 30 21 31 3 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663797727 3 59065134 TA T 509 PASS - - - - - Del - D 59065134 59065138 1 28 483.605 - - 3 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 6 4 7 29 32 29 32 4 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663800914 3 69248091 AT A 300 PASS FRMD4B CCDS46863.1 r.? - - Del intronic D 69248091 69248096 1 10 267.465 - - 4 1 1 FRMD4B|CCDS46863.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD4B|CCDS46863.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 17 5 17 0 0 ./. 1 4 1 4 18 32 18 32 1 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663801030 3 69564352 GA G 1260 PASS FRMD4B ENST00000459638 r.? - - Del intronic D 69564352 69564355 1 126 1128.41 - - 2 1 1 FRMD4B|ENST00000459638|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FRMD4B|ENST00000459638|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 8 13 10 15 22 29 22 29 10 15 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663802806 3 75192998 G GC 660 PASS - - - - - Ins - I 75192998 75193008 1 22 578.429 - - 9 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 1 10 0 1 26 28 27 28 1 10 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663806684 3 84947656 G GT 420 PASS - - - - - Ins - I 84947656 84947665 1 20 371.923 - - 8 1 1 - - ./. 0 0 0 0 15 25 15 25 0 0 ./. 3 4 7 6 36 33 36 34 7 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663807142 3 86324782 AGT A 420 PASS - - - - - Del - D 86324782 86324785 2 20 376.137 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 3 6 5 33 35 33 35 6 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663809250 3 96077909 G GA 569 PASS - - - - - Ins - I 96077909 96077917 1 35 530.716 - - 7 1 1 - - ./. 0 0 0 0 29 12 29 13 0 0 ./. 6 4 7 6 37 23 39 25 7 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663811214 3 103347011 TTTTG T 660 PASS - - - - - Del - D 103347011 103347038 4 40 590.47 - - 6 1 - - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 7 8 8 22 20 22 20 8 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663812064 3 105918531 GA G 720 PASS - - - - - Del - D 105918531 105918537 1 49 644.806 - - 5 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 6 7 6 31 44 31 44 7 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663812582 3 107813154 ATAT A 449 PASS CD47 CCDS46882.1 r.? - - Del upstream D 107813154 107813158 3 24 429.871 - - 1 1 1 CD47|CCDS46882.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CD47|CCDS46882.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 5 6 5 6 0 0 ./. 5 3 7 7 25 35 25 35 7 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663814495 3 114155062 A AT 840 PASS ZBTB20 CCDS2981.1 r.? - - Ins intronic I 114155062 114155072 1 55 739.631 - - 9 1 1 ZBTB20|CCDS2981.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZBTB20|CCDS2981.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 10 4 11 7 42 31 42 31 11 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663821443 3 138633331 C CT 360 PASS - - - - - Ins - I 138633331 138633340 1 15 317.587 - - 8 1 1 - - ./. 0 0 0 0 13 4 13 4 0 0 ./. 4 2 6 2 26 21 27 22 6 2 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663821911 3 140631390 G GA 449 PASS - - - - - Ins - I 140631390 140631398 1 24 423.85 - - 7 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 5 3 6 4 29 34 29 34 6 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663824208 3 148268195 AT A 420 PASS - - - - - Del - D 148268195 148268205 1 14 375.535 - - 9 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 1 6 3 7 28 32 28 32 3 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663829625 3 165296866 TAATTTC T 580 PASS - - - - - Del - D 165296866 165296874 6 120 1074.68 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 9 11 9 11 27 31 27 31 9 11 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663837606 3 190054400 TG T 420 PASS - - - - - Del - D 190054400 190054403 1 18 371.32 - - 2 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 5 3 6 21 26 21 26 3 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663842347 4 7007676 TTAAG T 685 PASS TBC1D14 CCDS3394.2 r.? - - Del intronic D 7007676 7007681 4 60 751.625 - - 1 1 1 TBC1D14|CCDS3394.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D14|CCDS3394.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 5 9 5 10 16 35 16 35 5 10 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663852071 4 39908552 A AC 300 PASS PDS5A CCDS47045.1 r.? - - Ins intronic I 39908552 39908553 1 6 265.255 - - 0 1 - PDS5A|CCDS47045.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDS5A|CCDS47045.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 0 5 1 0 33 25 33 25 1 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663856115 4 54565220 G GT 360 PASS AC110792.1 ENST00000511394 r.? - - Ins intronic I 54565220 54565222 1 16 319.028 - - 1 1 1 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 3 4 14 27 14 27 3 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663858170 4 61207770 ATTC A 360 PASS - - - - - Del - D 61207770 61207779 3 15 320.835 - - 2 1 1 - - ./. 0 0 0 0 20 11 20 11 0 0 ./. 4 2 4 4 22 28 22 28 4 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663858561 4 62222288 G GTAA 449 PASS LPHN3 ENST00000512091 r.? - - Ins intronic I 62222288 62222294 3 25 415.738 - - 1 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 4 4 5 4 20 16 20 16 5 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663858768 4 62884718 CTT C 780 PASS LPHN3 ENST00000512091 r.? - - Del intronic D 62884718 62884721 2 56 699.055 - - 2 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 7 6 7 13 16 13 16 6 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663858830 4 63114402 CTGCTCCACCCTG C 261 PASS - - - - - Del - D 63114402 63114415 12 28 482.757 - - 1 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 3 6 3 26 18 26 18 6 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663860521 4 67789541 TA T 300 PASS - - - - - Del - D 67789541 67789545 1 12 268.867 - - 3 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 4 7 24 26 24 26 4 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663860818 4 68884601 G GT 480 PASS - - - - - Ins - I 68884601 68884609 1 24 425.371 - - 7 1 - - - ./. 0 0 0 0 13 17 14 17 0 0 ./. 3 5 5 6 21 32 21 32 5 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663862983 4 75955685 T TA 360 PASS PARM1 CCDS47077.1 r.? - - Ins intronic I 75955685 75955694 1 12 319.028 - - 8 1 1 PARM1|CCDS47077.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARM1|CCDS47077.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 5 1 8 2 26 12 26 12 8 2 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663863913 4 78747492 C CGAACGTTCAATAAGTTCTTTCAAAGAAAGAACTTATT 265 PASS - - - - - Ins - I 78747492 78747517 37 14 220.481 - - 0 1 1 - - ./. 0 0 0 0 17 16 17 17 0 0 ./. 6 1 0 0 35 26 39 29 6 1 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663864792 4 81750041 C CA 689 PASS C4orf22 CCDS3587.1 r.? - - Ins intronic I 81750041 81750048 1 49 627.22 - - 6 1 1 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 6 6 7 8 30 38 32 38 8 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663870047 4 99388799 TAC T 480 PASS TSPAN5 CCDS3646.1 r.? - - Del downstream D 99388799 99388803 2 25 428.984 - - 1 1 1 TSPAN5|CCDS3646.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TSPAN5|CCDS3646.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 4 5 5 25 26 25 26 5 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663871650 4 104700019 ATGT A 269 PASS - - - - - Del - D 104700019 104700026 3 12 268.867 - - 2 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 2 3 3 5 22 22 22 22 3 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663872121 4 106583796 CTATT C 269 PASS ENSG00000236699 ENST00000420470 r.? - - Del intronic D 106583796 106583807 4 6 268.867 - - 2 1 1 ENSG00000236699|ENST00000420470|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000236699|ENST00000420470|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 0 6 0 21 22 21 22 6 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663872302 4 107573350 C CA 540 PASS - - - - - Ins - I 107573350 107573358 1 28 478.543 - - 7 1 1 - - ./. 0 0 0 0 16 17 17 17 0 0 ./. 3 6 4 7 22 37 22 37 4 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663875167 4 116883626 T TA 1080 PASS - - - - - Ins - I 116883626 116883636 1 96 955.881 - - 9 1 1 - - ./. 0 0 0 0 14 18 15 18 0 0 ./. 11 7 15 10 33 29 33 29 15 10 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663875332 4 117428922 A AT 360 PASS - - - - - Ins - I 117428922 117428932 1 15 318.426 - - 9 1 1 - - ./. 0 0 0 0 16 15 17 15 0 0 ./. 4 2 7 3 28 20 28 20 7 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663875602 4 118264034 T TTATATATAATATATATATATATTATAATA 290 PASS - - - - - Ins - I 118264034 118264052 29 36 361.331 - - 0 1 - - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 5 0 0 8 16 11 19 5 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663883950 4 145758514 TG T 420 PASS - - - - - Del - D 145758514 145758516 1 14 376.414 - - 1 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 1 6 2 8 31 28 31 28 2 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663884132 4 146942443 G GT 480 PASS - - - - - Ins - I 146942443 146942453 1 24 424.167 - - 9 1 - - - ./. 0 0 0 0 17 15 18 15 0 0 ./. 3 5 5 6 28 35 28 36 5 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663891959 4 174702278 TA T 1080 PASS - - - - - Del - D 174702278 174702288 1 99 967.922 - - 9 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 10 8 15 11 30 29 30 29 15 11 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663893301 4 178892788 A AT 360 PASS ENSG00000231171 ENST00000507870 r.? - - Ins intronic I 178892788 178892797 1 15 319.028 - - 8 1 1 ENSG00000231171|ENST00000507870|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000231171|ENST00000507870|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 2 7 3 29 22 29 22 7 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663893521 4 179566973 G GT 960 PASS - - - - - Ins - I 179566973 179566980 1 65 850.141 - - 6 1 1 - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 4 12 6 13 32 37 32 37 6 13 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663893963 4 180809247 AACCAAGGC A 377 PASS - - - - - Del - D 180809247 180809259 8 54 699.055 - - 1 1 1 - - ./. 0 0 0 0 24 15 24 15 0 0 ./. 8 5 8 6 31 18 31 18 8 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663896504 4 187800443 AT A 660 PASS - - - - - Del - D 187800443 187800449 1 40 590.906 - - 5 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 7 4 8 7 22 32 22 32 8 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663902749 5 10191062 AG A 360 PASS - - - - - Del - D 10191062 10191064 1 7 317.775 - - 1 1 1 - - ./. 0 0 0 0 16 2 16 2 0 0 ./. 6 0 8 0 61 26 61 26 8 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663904374 5 14677725 A AT 1140 PASS FAM105B CCDS43302.1 r.? - - Ins intronic I 14677725 14677735 1 110 1003.48 - - 9 1 1 FAM105B|CCDS43302.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM105B|CCDS43302.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 10 9 17 13 46 37 47 38 17 13 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663907477 5 23870396 A AT 300 PASS - - - - - Ins - I 23870396 23870405 1 10 261 - - 8 1 1 - - ./. 0 0 0 0 19 23 19 24 0 0 ./. 4 1 6 4 51 68 51 68 6 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663908390 5 26185337 C CAA 329 PASS - - - - - Ins - I 26185337 26185339 2 15 312.959 - - 1 1 - - - ./. 0 0 0 0 18 8 19 8 0 0 ./. 2 4 2 6 66 50 66 51 2 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663909221 5 28472183 G GA 3000 PASS - - - - - Ins - I 28472183 28472191 1 667 2655.75 - - 7 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 22 28 37 34 83 71 84 71 37 34 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663910668 5 31919836 A AAAAC 377 PASS PDZD2 CCDS34137.1 r.? - - Ins intronic I 31919836 31919837 4 36 659.815 - - 0 1 - PDZD2|CCDS34137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDZD2|CCDS34137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 3 14 3 0 0 ./. 11 2 0 3 43 25 44 26 11 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663912055 5 35687144 ATGCTTGGAAAAACAATTG A 261 PASS SPEF2 CCDS43309.1 r.? - - Del intronic D 35687144 35687165 18 30 483.888 - - 1 1 1 SPEF2|CCDS43309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPEF2|CCDS43309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 5 4 5 4 51 37 51 37 5 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663914934 5 44622453 AAC A 300 PASS - - - - - Del - D 44622453 44622457 2 6 262.204 - - 1 1 - - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 5 0 5 0 46 32 46 32 5 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663916000 5 52887303 GT G 420 PASS NDUFS4 CCDS3960.1 r.? - - Del intronic D 52887303 52887305 1 8 369.133 - - 1 1 1 NDUFS4|CCDS3960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NDUFS4|CCDS3960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 14 5 14 0 0 ./. 7 0 14 0 32 23 32 23 14 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663917016 5 55852303 CAGA C 480 PASS ENSG00000225940 ENST00000438651 r.? - - Del intronic D 55852303 55852309 3 24 430.123 - - 1 1 1 ENSG00000225940|ENST00000438651|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000225940|ENST00000438651|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 22 13 22 0 0 ./. 3 5 5 6 20 28 20 28 5 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663925477 5 88466897 AG A 1080 PASS - - - - - Del - D 88466897 88466905 1 99 961.153 - - 7 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 8 10 10 20 31 35 31 35 10 20 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663926649 5 95034097 G GC 1140 PASS - - - - - Ins - I 95034097 95034099 1 108 1007.09 - - 1 1 1 - - ./. 0 0 0 0 5 11 6 11 0 0 ./. 11 8 18 16 36 35 38 35 18 16 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663940721 5 149550432 CCTTTT C 389 PASS CDX1 CCDS4304.1 r.? - - Del intronic D 149550432 149550440 5 14 376.357 - - 1 1 1 CDX1|CCDS4304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDX1|CCDS4304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 1 6 3 8 31 43 31 43 3 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663942940 5 157675025 TAC T 301 PASS - - - - - Del - D 157675025 157675039 2 16 322.592 - - 6 1 - - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 3 7 7 30 34 30 34 7 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663943727 5 160600102 GATAAC G 896 PASS - - - - - Del - D 160600102 160600113 5 90 914.01 - - 2 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 8 9 9 11 24 33 24 33 9 11 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663944102 5 161760160 CAT C 749 PASS - - - - - Del - D 161760160 161760164 2 56 697.745 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 7 6 7 7 33 39 33 39 7 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663945667 5 166833661 CTGAT C 507 PASS - - - - - Del - D 166833661 166833668 4 32 537.051 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 7 3 8 3 39 14 39 14 8 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663946517 5 169626846 TTGAA T 480 PASS AC008660.1 ENST00000506431 r.? - - Del upstream D 169626846 169626854 4 21 430.123 - - 1 1 1 AC008660.1|ENST00000506431|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 AC008660.1|ENST00000506431|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 14 21 14 21 0 0 ./. 6 2 6 3 22 20 22 20 6 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663951592 6 4301106 TCG T 420 PASS - - - - - Del - D 4301106 4301110 2 18 376.899 - - 1 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 2 5 5 8 24 34 24 34 5 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663953727 6 9432017 AAC A 449 PASS - - - - - Del - D 9432017 9432023 2 25 430.741 - - 2 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 4 4 4 24 33 24 33 4 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663959372 6 24386561 C CA 360 PASS - - - - - Ins - I 24386561 24386571 1 12 319.444 - - 9 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 1 5 4 7 32 45 32 46 4 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663959883 6 25552931 C CT 780 PASS LRRC16A ENST00000329474 r.? - - Ins intronic I 25552931 25552939 1 54 688.515 - - 7 1 1 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 8 5 10 6 35 25 35 25 10 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663960212 6 26590366 T TC 300 PASS - - - - - Ins - I 26590366 26590367 1 12 262.591 - - 0 1 - - - ./. 0 0 0 0 13 14 13 15 0 0 ./. 2 3 2 5 18 21 18 21 2 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663962909 6 32790110 C CA 360 PASS TAP2 CCDS4755.1 r.? - - Ins intronic I 32790110 32790119 1 16 318.239 - - 8 1 1 TAP2|CCDS4755.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TAP2|CCDS4755.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 3 4 5 28 34 28 34 4 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663963295 6 33473695 TA T 780 PASS - - - - - Del - D 33473695 33473697 1 56 696.944 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 6 7 8 9 29 34 29 34 8 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663965518 6 39694359 G GA 629 PASS KIF6 CCDS4844.1 r.? - - Ins upstream I 39694359 39694368 1 42 583.84 - - 8 1 1 KIF6|CCDS4844.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 KIF6|CCDS4844.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 20 18 20 18 0 0 ./. 5 6 6 9 29 40 30 40 6 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663967313 6 45780103 TAACCCTCAGGGTGGATGGAGAA T 290 PASS - - - - - Del - D 45780103 45780128 22 35 538.427 - - 1 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 6 4 5 4 18 21 19 21 6 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663967976 6 48017857 TA T 420 PASS C6orf138 ENST00000398738 r.? - - Del intronic D 48017857 48017860 1 8 376.297 - - 2 1 1 C6orf138|ENST00000398738|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf138|ENST00000398738|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 27 11 27 0 0 ./. 7 0 8 6 30 25 30 25 8 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663968326 6 49520261 T TA 300 PASS - - - - - Ins - I 49520261 49520263 1 6 266.203 - - 1 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 5 0 8 3 27 22 28 23 8 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663970180 6 55592673 CTCA C 509 PASS - - - - - Del - D 55592673 55592680 3 30 482.778 - - 2 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 4 5 8 7 24 23 24 23 8 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2663987726 6 115744236 T TA 600 PASS - - - - - Ins - I 115744236 115744246 1 32 532.406 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 12 0 0 ./. 7 3 7 5 26 22 26 22 7 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664001381 6 163378083 AC A 360 PASS PACRG CCDS43524.1 r.? - - Del intronic D 163378083 163378086 1 15 318.239 - - 2 1 1 PACRG|CCDS43524.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PACRG|CCDS43524.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 2 6 4 18 18 18 18 6 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664005724 7 7477424 A AT 420 PASS COL28A1 CCDS43553.1 r.? - - Ins intronic I 7477424 7477434 1 20 372.739 - - 9 1 1 COL28A1|CCDS43553.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL28A1|CCDS43553.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 4 3 5 5 13 24 13 25 5 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664010230 7 24012812 TTCTC T 780 PASS - - - - - Del - D 24012812 24012818 4 44 699.454 - - 2 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 3 10 6 11 12 17 12 17 6 11 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664020121 7 61757354 TG T 540 PASS - - - - - Del - D 61757354 61757357 1 28 484.654 - - 2 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 6 3 7 4 39 30 39 30 7 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664021131 7 63817662 AC A 300 PASS - - - - - Del - D 63817662 63817666 1 12 269.252 - - 3 1 1 - - ./. 0 0 0 0 24 6 24 6 0 0 ./. 2 3 2 5 26 38 26 38 2 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664027855 7 81830352 A AT 660 PASS CACNA2D1 CCDS5598.1 r.? - - Ins intronic I 81830352 81830354 1 42 585.732 - - 1 1 1 CACNA2D1|CCDS5598.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACNA2D1|CCDS5598.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 5 6 5 7 29 37 30 37 5 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664031127 7 93302021 TTAAAG T 260 PASS GNGT1 ENST00000455502 r.? - - Del intronic D 93302021 93302029 5 36 537.903 - - 1 1 1 GNGT1|ENST00000455502|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GNGT1|ENST00000455502|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 5 5 6 31 39 32 39 6 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664031345 7 94134064 C CT 600 PASS CASD1 ENST00000447923 r.? - - Ins upstream I 94134064 94134073 1 36 532.484 - - 8 1 1 CASD1|ENST00000447923|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CASD1|ENST00000447923|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 5 5 6 32 33 33 33 5 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664033755 7 101526935 AGGCTGGAG A 667 PASS CUX1 CCDS5721.1 r.? - - Del intronic D 101526935 101526944 8 150 1231.34 - - 1 1 1 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 14 9 16 11 46 23 46 23 16 11 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664036100 7 108555018 A AT 360 PASS - - - - - Ins - I 108555018 108555028 1 15 314.072 - - 9 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 2 4 7 5 46 42 46 43 7 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664037740 7 113786711 T TA 660 PASS FOXP2 ENST00000484307 r.? - - Ins intronic I 113786711 113786718 1 36 585.732 - - 6 1 1 FOXP2|ENST00000484307|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FOXP2|ENST00000484307|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 19 12 20 0 0 ./. 8 3 8 4 45 31 45 31 8 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664040258 7 122527551 CT C 540 PASS CADPS2 CCDS47691.1 r.? - - Del upstream D 122527551 122527554 1 30 482.848 - - 2 1 1 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 5 7 5 34 27 34 27 7 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664044668 7 135814721 CT C 300 PASS - - - - - Del - D 135814721 135814730 1 12 269.252 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 2 6 2 37 20 37 20 6 2 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664048522 7 147694660 A AT 300 PASS CNTNAP2 CCDS5889.1 r.? - - Ins intronic I 147694660 147694661 1 12 266.242 - - 0 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 4 5 23 27 24 27 4 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664049170 7 149481969 AG A 480 PASS SSPO ENST00000378016 r.2760delG c.2760delG p.A921fs*103 Del frameshift D 149481969 149481974 1 24 429.6 - - 4 1 1 SSPO|ENST00000378016|r.2760delG|c.2760delG|p.A921fs*103|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SSPO|ENST00000378016|r.2760delG|c.2760delG|p.A921fs*103|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 5 4 6 17 25 17 25 4 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664049579 7 150474582 G GT 300 PASS - - - - - Ins - I 150474582 150474590 1 12 265.64 - - 7 1 - - - ./. 0 0 0 0 21 12 23 12 0 0 ./. 3 2 4 4 29 30 29 30 4 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664052616 8 450144 AG A 600 PASS C8orf42 CCDS47759.1 r.? - - Del intronic D 450144 450146 1 36 538.172 - - 1 1 1 C8orf42|CCDS47759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C8orf42|CCDS47759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 23 15 23 0 0 ./. 5 5 7 6 28 30 28 30 7 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664059407 8 19483973 TA T 420 PASS CSGALNACT1 CCDS6010.1 r.? - - Del intronic D 19483973 19483978 1 18 376.721 - - 4 1 1 CSGALNACT1|CCDS6010.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CSGALNACT1|CCDS6010.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 5 4 8 25 32 25 32 4 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664063011 8 30366757 T TCTTC 869 PASS RBPMS CCDS6077.1 r.? - - Ins intronic I 30366757 30366768 4 60 765.716 - - 2 1 - RBPMS|CCDS6077.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBPMS|CCDS6077.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 22 20 23 0 0 ./. 11 4 16 6 37 23 37 24 16 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664064326 8 34907250 A AT 420 PASS - - - - - Ins - I 34907250 34907259 1 18 372.506 - - 8 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 5 2 7 3 34 19 35 19 7 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664066620 8 47556116 T TTG 1800 PASS - - - - - Ins - I 47556116 47556122 2 256 1577.79 - - 2 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 15 15 17 22 29 43 29 44 17 22 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664066941 8 49500210 AG A 689 PASS - - - - - Del - D 49500210 49500215 1 33 640.99 - - 4 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 10 5 10 23 46 23 46 5 10 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664068776 8 56016445 A ATG 420 PASS XKR4 CCDS34893.1 r.? - - Ins intronic I 56016445 56016447 2 20 363.475 - - 0 1 - XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 4 3 8 6 34 22 34 22 8 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664072278 8 68625853 GC G 300 PASS CPA6 CCDS6200.1 r.? - - Del intronic D 68625853 68625857 1 12 269.086 - - 3 1 1 CPA6|CCDS6200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPA6|CCDS6200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 2 3 5 3 37 32 37 32 5 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664072476 8 69130126 G GTCTGAGGTTCTGCAAGAATCTTAGACAACTCTGGAAAAAGGGAAGTCTACGGAGTAATCTGCAGGCACCAT 290 PASS PREX2 CCDS6201.1 r.? - - Ins intronic I 69130126 69130194 71 27 110.71 - - 0 1 1 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 29 26 29 26 0 0 ./. 8 2 0 0 79 74 89 77 8 2 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664072595 8 69517945 GGGCTT G 598 PASS C8orf34 CCDS6203.1 r.? - - Del intronic D 69517945 69517952 5 42 591.99 - - 1 1 1 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 6 5 6 6 43 47 43 47 6 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664076481 8 81654062 CA C 480 PASS ZNF704 CCDS34913.1 r.? - - Del intronic D 81654062 81654068 1 25 429.334 - - 5 1 1 ZNF704|CCDS34913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF704|CCDS34913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 4 10 6 47 39 47 39 10 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664076761 8 82600039 T TAG 435 PASS IMPA1 CCDS47883.1 r.? - - Ins upstream I 82600039 82600051 2 9 420.905 - - 5 1 1 IMPA1|CCDS47883.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 IMPA1|CCDS47883.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 14 3 14 3 0 0 ./. 8 0 15 1 67 37 67 38 15 1 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664082414 8 100475424 CCTT C 540 PASS VPS13B CCDS6280.1 r.? - - Del intronic D 100475424 100475434 3 30 484.355 - - 3 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 5 6 5 45 48 45 48 6 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664082434 8 100549085 ACTAAACTTTAAGAATTTT A 406 PASS VPS13B CCDS6280.1 r.? - - Del intronic D 100549085 100549105 18 63 752.839 - - 1 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR875|ENST00000401250|r.1_4delUUAG|-|-|non_protein_coding:exon:deletion:2KB_upstream_variant:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001636:SO:0001619 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 8 5 8 44 52 45 52 6 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664085926 8 110440632 G GA 805 PASS PKHD1L1 CCDS47911.1 r.? - - Ins intronic I 110440632 110440640 1 80 851.443 - - 7 1 1 PKHD1L1|CCDS47911.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PKHD1L1|CCDS47911.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 12 0 0 ./. 9 7 14 10 56 52 56 52 14 10 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664091769 8 127766838 C CA 540 PASS - - - - - Ins - I 127766838 127766847 1 28 478.937 - - 8 1 1 - - ./. 0 0 0 0 25 15 25 15 0 0 ./. 6 3 9 5 48 56 48 56 9 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664094868 8 138019570 TTA T 360 PASS - - - - - Del - D 138019570 138019573 2 16 322.903 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 3 3 4 46 43 46 43 3 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664095759 8 140276392 CA C 509 PASS - - - - - Del - D 140276392 140276400 1 28 480.743 - - 7 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 6 3 7 3 48 41 48 41 7 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664097273 8 145961863 TA T 389 PASS ZNF251 CCDS47944.1 r.? - - Del intronic D 145961863 145961865 1 18 376.119 - - 1 1 - ZNF251|CCDS47944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF251|CCDS47944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 5 6 6 26 43 26 43 6 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664097836 9 1040668 TG T 420 PASS - - - - - Del - D 1040668 1040673 1 20 377.926 - - 4 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 3 6 3 20 17 20 17 6 3 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664099154 9 6306752 C CCTAT 538 PASS - - - - - Ins - I 6306752 6306757 4 32 514.006 - - 1 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 7 6 9 31 41 33 41 6 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664102821 9 17556353 AAG A 267 PASS - - - - - Del - D 17556353 17556357 2 7 305.273 - - 1 1 - - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 6 0 4 0 27 31 27 31 6 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664104024 9 21985224 ATACT A 629 PASS - - - - - Del - D 21985224 21985229 4 42 592.68 - - 1 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 5 6 6 9 36 35 36 35 6 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664115882 9 79305731 CTTG C 300 PASS PRUNE2 CCDS47982.1 r.? - - Del intronic D 79305731 79305740 3 12 269.947 - - 2 1 1 PRUNE2|CCDS47982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRUNE2|CCDS47982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 16 22 16 0 0 ./. 3 2 5 4 19 29 19 29 5 4 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664117205 9 84187774 GTAAAA G 567 PASS - - - - - Del - D 84187774 84187788 5 42 591.476 - - 2 1 - - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 5 6 7 10 16 32 16 32 7 10 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664129227 9 125463868 G GT 540 PASS - - - - - Ins - I 125463868 125463878 1 28 473.864 - - 9 1 1 - - ./. 0 0 0 0 18 17 18 18 0 0 ./. 3 6 7 8 21 31 21 31 7 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664133823 9 141071520 GTGTCTCAGAGCAGTTTACAGCAA G 276 PASS - - - - - Del - D 141071520 141071547 23 11 537.487 - - 1 1 1 - - ./. 0 0 0 0 18 5 18 5 0 0 ./. 10 0 8 0 29 24 31 24 10 0 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664135868 X 8454651 GAA G 337 PASS ENSG00000227978 ENST00000418307 r.? - - Del intronic D 8454651 8454655 2 7 323.14 - - 3 1 - ENSG00000227978|ENST00000418307|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000227978|ENST00000418307|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 0 6 1 9 33 25 35 25 1 9 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664138583 X 20190629 G GA 600 PASS RPS6KA3 CCDS14197.1 r.? - - Ins intronic I 20190629 20190638 1 35 528.732 - - 8 1 1 RPS6KA3|CCDS14197.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RPS6KA3|CCDS14197.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 4 8 5 34 23 34 24 8 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664141037 X 29095357 G GA 298 PASS IL1RAPL1 CCDS14218.1 r.? - - Ins intronic I 29095357 29095363 1 15 320.129 - - 5 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 2 4 7 6 20 28 21 29 7 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664149535 X 74828854 C CA 569 PASS - - - - - Ins - I 74828854 74828860 1 32 525.12 - - 5 1 1 - - ./. 0 0 0 0 21 10 22 10 0 0 ./. 7 3 7 5 36 28 36 28 7 5 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664150590 X 79901760 TTC T 600 PASS - - - - - Del - D 79901760 79901764 2 27 538.967 - - 1 1 1 - - ./. 0 0 0 0 20 11 20 11 0 0 ./. 2 8 4 8 16 34 16 34 4 8 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664154926 X 96426783 C CA 316 PASS DIAPH2 CCDS14467.1 r.? - - Ins intronic I 96426783 96426790 1 24 422.625 - - 6 1 1 DIAPH2|CCDS14467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DIAPH2|CCDS14467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 1 13 1 13 0 0 ./. 3 5 3 6 11 21 11 21 3 6 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664157212 X 106757149 A AAT 420 PASS - - - - - Ins - I 106757149 106757157 2 20 365.657 - - 3 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 4 4 7 25 26 27 26 4 7 1 1 1 1 1 1 1 1 2576042 PD6701a2 PD6701b 2664162105 X 126058644 G GT 306 PASS - - - - - Ins - I 126058644 126058652 1 7 318.925 - - 7 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 0 6 2 8 31 27 32 28 2 8 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688152108 1 6397568 AT A 629 PASS ACOT7 CCDS30573.1 r.? - - Del intronic D 6397568 6397571 1 42 590.245 - - 2 1 1 ACOT7|CCDS30573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACOT7|CCDS30573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 5 6 7 21 23 21 23 6 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688159068 1 29139328 C CG 660 PASS OPRD1 CCDS329.1 r.? - - Ins intronic I 29139328 29139338 1 42 570.979 - - 9 1 1 OPRD1|CCDS329.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OPRD1|CCDS329.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 7 9 7 0 0 ./. 6 5 6 8 24 30 24 30 6 8 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688160914 1 36849693 T TGG 509 PASS STK40 CCDS407.1 r.? - - Ins intronic I 36849693 36849695 2 28 458.736 - - 1 1 1 STK40|CCDS407.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 STK40|CCDS407.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 5 10 6 0 0 ./. 6 3 9 6 35 24 35 24 9 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688168320 1 64586074 T TA 720 PASS ROR1 CCDS626.1 r.? - - Ins intronic I 64586074 64586080 1 48 636.734 - - 5 1 1 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 5 7 7 9 21 44 22 44 7 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688174941 1 89503386 GTCCCAAATATGAAGAA G 725 PASS AL160008.2 ENST00000498904 r.? - - Del intronic D 89503386 89503408 16 176 1342.83 - - 1 1 1 AL160008.2|ENST00000498904|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL160008.2|ENST00000498904|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 15 10 13 10 28 19 30 19 15 10 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688181108 1 112651238 CT C 329 PASS - - - - - Del - D 112651238 112651243 1 12 322.28 - - 4 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 1 5 2 9 30 32 30 32 2 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688190740 1 159500634 G GA 480 PASS OR10J5 CCDS30910.1 r.? - - Ins downstream I 159500634 159500640 1 21 424.89 - - 5 1 1 OR10J5|CCDS30910.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 OR10J5|CCDS30910.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 17 10 17 10 0 0 ./. 6 2 8 3 62 48 63 48 8 3 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688191937 1 163275546 CCTT C 805 PASS - - - - - Del - D 163275546 163275550 3 77 859.414 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 10 8 15 33 38 33 38 8 15 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688196907 1 181183160 TC T 420 PASS - - - - - Del - D 181183160 181183162 1 8 367.565 - - 1 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 7 0 10 0 43 36 43 36 10 0 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688197859 1 184765282 CAA C 540 PASS FAM129A CCDS1364.1 r.? - - Del intronic D 184765282 184765286 2 28 482.818 - - 3 1 1 FAM129A|CCDS1364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM129A|CCDS1364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 3 7 4 43 33 43 33 7 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688200774 1 194471475 T TTA 269 PASS - - - - - Ins - I 194471475 194471477 2 12 254.117 - - 0 1 - - - ./. 0 0 0 0 3 5 3 7 0 0 ./. 3 2 4 8 26 38 26 38 4 8 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688202825 1 200809156 AG A 1320 PASS CAMSAP1L1 CCDS1404.1 r.? - - Del intronic D 200809156 200809158 1 140 1179.89 - - 1 1 1 CAMSAP1L1|CCDS1404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMSAP1L1|CCDS1404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 9 13 11 17 56 37 56 37 11 17 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688212031 1 230998371 CTG C 300 PASS C1orf198 CCDS1587.1 r.? - - Del intronic D 230998371 230998375 2 10 268.567 - - 1 1 1 C1orf198|CCDS1587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf198|CCDS1587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 4 1 4 40 53 40 53 1 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688212973 1 234077700 G GT 329 PASS SLC35F3 CCDS1600.1 r.? - - Ins intronic I 234077700 234077708 1 7 316.26 - - 7 1 - SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 0 0 1 68 39 68 39 6 1 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688213176 1 234735177 TATG T 389 PASS IRF2BP2 CCDS1602.1 r.? - - Del downstream D 234735177 234735183 3 18 375.994 - - 1 1 1 IRF2BP2|CCDS1602.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 IRF2BP2|CCDS1602.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 2 6 3 35 46 35 46 6 3 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688217130 1 245425763 A AT 780 PASS KIF26B CCDS44342.1 r.? - - Ins intronic I 245425763 245425773 1 56 688.641 - - 9 1 1 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 7 6 12 9 43 41 43 41 12 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688225940 10 20050825 AC A 1320 PASS - - - - - Del - D 20050825 20050828 1 144 1185.69 - - 2 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 11 11 17 12 46 34 46 34 17 12 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688234160 10 45826744 TCA T 569 PASS - - - - - Del - D 45826744 45826747 2 35 539.223 - - 1 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 6 4 6 4 27 14 27 14 6 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688241054 10 71242731 T TG 360 PASS TSPAN15 CCDS7294.1 r.? - - Ins intronic I 71242731 71242732 1 15 319.921 - - 0 1 - TSPAN15|CCDS7294.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TSPAN15|CCDS7294.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 2 4 4 10 27 38 27 38 4 10 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688243284 10 80751034 TAAAAC T 267 PASS - - - - - Del - D 80751034 80751044 5 15 323.534 - - 1 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 4 2 6 23 34 23 34 2 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688243348 10 81055506 CT C 1020 PASS ZMIZ1 CCDS7357.1 r.? - - Del intronic D 81055506 81055508 1 84 911.26 - - 1 1 1 ZMIZ1|CCDS7357.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZMIZ1|CCDS7357.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 6 11 7 11 36 34 36 34 7 11 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688245728 10 89624241 C CA 780 PASS ENSG00000227268 CCDS44454.1 r.? - - Ins upstream I 89624241 89624245 1 54 691.959 - - 3 1 1 ENSG00000227268|CCDS44454.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 PTEN|ENST00000371953|r.1372_1373insa|c.15_16insA|p.E7fs*4|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 10 13 10 13 0 0 ./. 8 5 11 7 38 23 39 24 11 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688246715 10 93521283 T TA 660 PASS - - - - - Ins - I 93521283 93521290 1 42 582.91 - - 6 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 6 5 8 7 34 36 36 36 8 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688247388 10 95235798 CTGA C 538 PASS MYOF CCDS41551.1 r.? - - Del intronic D 95235798 95235803 3 20 539.223 - - 1 1 1 MYOF|CCDS41551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYOF|CCDS41551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 1 9 1 10 15 33 15 33 1 10 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688258778 10 133348029 GT G 1020 PASS - - - - - Del - D 133348029 133348031 1 88 916.679 - - 1 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 10 7 11 9 33 29 33 29 11 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688263599 11 12749073 A AT 600 PASS TEAD1 CCDS7810.1 r.? - - Ins intronic I 12749073 12749080 1 35 533.618 - - 6 1 1 TEAD1|CCDS7810.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TEAD1|CCDS7810.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 6 4 11 10 33 35 35 35 11 10 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688277148 11 62211951 GCT G 660 PASS AHNAK CCDS44625.1 r.? - - Del intronic D 62211951 62211956 2 36 594.265 - - 2 1 1 AHNAK|CCDS44625.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AHNAK|CCDS44625.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 13 21 13 0 0 ./. 8 3 9 4 28 17 28 17 9 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688283734 11 86872707 GA G 900 PASS TMEM135 CCDS8280.1 r.? - - Del intronic D 86872707 86872710 1 70 808.555 - - 2 1 1 TMEM135|CCDS8280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM135|CCDS8280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 9 6 10 8 28 24 28 24 10 8 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688289675 11 106740833 A AG 383 PASS GUCY1A2 CCDS8335.1 r.? - - Ins intronic I 106740833 106740843 1 20 367.331 - - 9 1 1 GUCY1A2|CCDS8335.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GUCY1A2|CCDS8335.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 4 3 6 1 26 15 26 15 6 3 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688290148 11 108010367 ATG A 360 PASS ACAT1 CCDS8339.1 r.? - - Del intronic D 108010367 108010379 2 15 324.144 - - 5 1 1 ACAT1|CCDS8339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACAT1|CCDS8339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 4 3 9 25 38 25 38 3 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688296897 11 131513270 AC A 480 PASS OPCML CCDS41733.1 r.? - - Del intronic D 131513270 131513274 1 25 432.193 - - 3 1 1 OPCML|CCDS41733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OPCML|CCDS41733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 9 3 9 0 0 ./. 4 4 6 9 21 30 21 30 6 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688297264 11 133330543 T TA 540 PASS ENSG00000183715 CCDS31722.1 r.? - - Ins intronic I 133330543 133330550 1 30 477.788 - - 6 1 1 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 5 5 7 36 28 36 28 5 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688311092 12 44489128 A AT 360 PASS TMEM117 CCDS8745.1 r.? - - Ins intronic I 44489128 44489135 1 12 320.613 - - 6 1 1 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 15 0 0 ./. 5 1 7 1 40 33 40 33 7 1 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688318050 12 70023817 CT C 1080 PASS - - - - - Del - D 70023817 70023819 1 91 972.677 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 12 8 15 27 39 27 39 8 15 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688343382 13 40127893 TC T 780 PASS LHFP CCDS9369.1 r.? - - Del intronic D 40127893 40127896 1 36 703.596 - - 2 1 1 LHFP|CCDS9369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHFP|CCDS9369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 11 2 11 22 23 22 23 2 11 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688360837 13 98033889 A AT 300 PASS MBNL2 CCDS9484.1 r.? - - Ins intronic I 98033889 98033897 1 12 267.603 - - 7 1 1 MBNL2|CCDS9484.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MBNL2|CCDS9484.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 2 3 5 26 41 26 41 3 5 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688379058 14 62485013 CTTCTTTTTTTTTTTTTTT C 290 PASS SYT16 CCDS45121.1 r.? - - Del intronic D 62485013 62485034 18 35 531.647 - - 1 1 - SYT16|CCDS45121.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYT16|CCDS45121.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 8 3 8 0 0 ./. 4 6 5 7 18 26 18 26 6 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688382399 14 74642451 A ACACACACACC 319 PASS LIN52 CCDS32120.1 r.? - - Ins intronic I 74642451 74642455 10 30 514.792 - - 0 1 - LIN52|CCDS32120.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LIN52|CCDS32120.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 7 8 0 0 ./. 2 9 3 5 24 25 24 29 3 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688385980 14 86656590 CT C 809 PASS - - - - - Del - D 86656590 86656598 1 60 755.625 - - 7 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 9 5 11 8 31 30 31 30 11 8 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688400813 15 48711395 C CT 840 PASS FBN1 CCDS32232.1 r.? - - Ins intronic I 48711395 48711398 1 55 751.043 - - 2 1 1 FBN1|CCDS32232.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBN1|CCDS32232.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 10 4 13 9 43 31 43 31 13 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688407783 15 71633456 T TTTTCTTTTTTCTTTTGTTGCCTTGCCTTTTCTTTTCTATTGTCTCTTCTGTCTTCCCTCTCTCTCCC 269 PASS THSD4 CCDS10238.2 r.? - - Ins intronic I 71633456 71633460 67 10 69.5499 - - 0 1 1 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 12 10 0 0 ./. 4 1 0 0 39 34 39 35 4 1 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688408613 15 74833615 C CCGGGGCCTGAGCTGCCGCCT 261 PASS ARID3B CCDS10264.1 r.70_71inscggggccugagcugccgccu c.? p.? Ins 5'UTR variant I 74833615 74833637 20 28 377.453 - - 1 1 1 ARID3B|CCDS10264.1|r.70_71inscggggccugagcugccgccu|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ARID3B|CCDS10264.1|r.70_71inscggggccugagcugccgccu|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 9 3 9 3 0 0 ./. 6 3 2 0 24 12 28 15 6 3 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688416568 16 665961 C CA 840 PASS RAB40C CCDS10413.1 r.? - - Ins intronic I 665961 665968 1 55 735.774 - - 6 1 1 RAB40C|CCDS10413.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAB40C|CCDS10413.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 10 4 12 5 40 27 40 27 12 5 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688422084 16 16731935 CT C 356 PASS - - - - - Del - D 16731935 16731937 1 11 541.12 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 10 0 12 0 57 47 57 47 12 0 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688427831 16 33821100 GTGAAATGA G 319 PASS - - - - - Del - D 33821100 33821131 8 30 594.75 - - 3 1 - - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 9 2 11 4 33 29 33 29 11 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688433943 16 66318927 C CCT 298 PASS - - - - - Ins - I 66318927 66318947 2 15 312.751 - - 9 1 - - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 4 2 7 16 16 16 16 2 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688451461 17 35879305 CTGA C 565 PASS SYNRG CCDS11321.1 r.? - - Del intronic D 35879305 35879309 3 49 650.541 - - 1 1 1 SYNRG|CCDS11321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYNRG|CCDS11321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 6 6 7 9 22 37 22 37 7 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688455047 17 47489168 C CG 660 PASS PHB CCDS11548.1 r.194_195insc c.121_122insC p.R41fs*28 Ins frameshift I 47489168 47489171 1 40 584.288 - - 2 1 1 PHB|CCDS11548.1|r.194_195insc|c.121_122insC|p.R41fs*28|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 PHB|CCDS11548.1|r.194_195insc|c.121_122insC|p.R41fs*28|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 6 9 6 9 0 0 ./. 7 4 7 6 24 18 25 18 7 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688466568 18 2767091 C CA 540 PASS ENSG00000101596 CCDS45822.1 r.? - - Ins intronic I 2767091 2767098 1 30 482.68 - - 6 1 1 ENSG00000101596|CCDS45822.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000101596|CCDS45822.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 11 8 0 0 ./. 5 4 9 4 25 21 25 21 9 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688481687 18 60830889 G GA 780 PASS BCL2 CCDS11981.1 r.? - - Ins intronic I 60830889 60830898 1 54 697.204 - - 8 1 1 BCL2|CCDS11981.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BCL2|CCDS11981.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 8 7 9 32 34 34 34 7 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688484680 18 69530036 AG A 420 PASS - - - - - Del - D 69530036 69530039 1 18 379.632 - - 2 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 5 6 11 22 30 22 30 6 11 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688488926 19 4578513 AAAATCCAGGAGATCACTTG A 435 PASS - - - - - Del - D 4578513 4578533 19 70 814.243 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 9 6 9 7 26 30 26 30 9 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688498047 19 32497008 C CA 360 PASS - - - - - Ins - I 32497008 32497016 1 15 322.085 - - 7 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 4 3 7 19 30 19 30 3 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688500006 19 38078260 G GT 600 PASS ZNF571 CCDS12505.1 r.? - - Ins intronic I 38078260 38078268 1 35 536.808 - - 7 1 1 ZNF571|CCDS12505.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF571|CCDS12505.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 6 10 6 35 32 37 32 10 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688501904 19 44583859 C CA 660 PASS ZNF284 CCDS46099.1 r.? - - Ins intronic I 44583859 44583868 1 42 589.887 - - 8 1 - ZNF284|CCDS46099.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF284|CCDS46099.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 6 5 8 8 25 42 25 42 8 8 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688502103 19 45090978 A AAG 418 PASS - - - - - Ins - I 45090978 45090988 2 9 424.63 - - 4 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 8 0 1 1 29 20 29 20 9 1 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688509471 2 6297589 GAC G 329 PASS - - - - - Del - D 6297589 6297592 2 12 320.905 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 1 0 0 28 21 28 21 5 1 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688529852 2 81420843 G GA 360 PASS - - - - - Ins - I 81420843 81420850 1 15 318.496 - - 6 1 1 - - ./. 0 0 0 0 6 8 7 8 0 0 ./. 2 4 5 5 26 23 27 23 5 5 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688535682 2 106038679 CT C 660 PASS FHL2 CCDS2070.1 r.? - - Del intronic D 106038679 106038683 1 40 591.636 - - 3 1 1 FHL2|CCDS2070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FHL2|CCDS2070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 7 4 17 4 35 28 35 28 17 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688536619 2 109366923 A ACT 273 PASS RANBP2 CCDS2079.1 r.? - - Ins intronic I 109366923 109366924 2 11 525.81 - - 0 1 1 RANBP2|CCDS2079.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RANBP2|CCDS2079.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 10 0 11 0 44 20 45 20 11 0 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688536957 2 110978068 CAGG C 329 PASS - - - - - Del - D 110978068 110978074 3 12 322.711 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 1 9 2 21 34 21 34 9 2 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688538129 2 116123719 TA T 660 PASS DPP10 CCDS46400.1 r.? - - Del intronic D 116123719 116123721 1 40 591.636 - - 1 1 1 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 7 4 9 6 25 16 25 16 9 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688541722 2 129063981 AC A 480 PASS HS6ST1 CCDS42748.1 r.? - - Del intronic D 129063981 129063986 1 24 429.077 - - 4 1 1 HS6ST1|CCDS42748.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS6ST1|CCDS42748.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 3 5 4 6 13 17 13 17 4 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688543562 2 133518176 A AT 720 PASS NCKAP5 CCDS46418.1 r.? - - Ins intronic I 133518176 133518183 1 45 635.789 - - 6 1 1 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 8 4 11 5 36 24 36 24 11 5 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688564594 2 212649078 TTA T 809 PASS ERBB4 CCDS2394.1 r.? - - Del intronic D 212649078 212649082 2 63 752.992 - - 1 1 1 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 8 6 13 6 37 25 37 25 13 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688575691 20 5796928 A AT 389 PASS C20orf196 CCDS13091.1 r.? - - Ins intronic I 5796928 5796937 1 20 374.559 - - 8 1 1 C20orf196|CCDS13091.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C20orf196|CCDS13091.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 3 7 5 42 21 42 21 7 5 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688590883 20 60919219 AG A 360 PASS LAMA5 CCDS33502.1 r.? - - Del intronic D 60919219 60919221 1 7 309.353 - - 1 1 1 LAMA5|CCDS33502.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LAMA5|CCDS33502.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 0 14 0 24 13 24 13 14 0 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688604981 21 44164921 CAA C 480 PASS PDE9A CCDS13690.1 r.? - - Del intronic D 44164921 44164925 2 24 435.409 - - 3 1 1 PDE9A|CCDS13690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE9A|CCDS13690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 5 3 5 6 16 23 16 23 5 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688607240 22 18135203 T TA 718 PASS BCL2L13 CCDS13746.1 r.? - - Ins intronic I 18135203 18135205 1 50 701.921 - - 1 1 1 BCL2L13|CCDS13746.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BCL2L13|CCDS13746.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 14 7 0 0 ./. 9 4 9 7 32 33 35 33 9 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688621622 3 13460829 G GCC 327 PASS NUP210 CCDS33704.1 r.? - - Ins intronic I 13460829 13460831 2 18 368.72 - - 1 1 1 NUP210|CCDS33704.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUP210|CCDS33704.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 5 5 6 18 30 19 30 5 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688622213 3 15789071 ATAT AG 356 PASS ANKRD28 CCDS46769.1 r.? - - Complex intronic DI 15789072 15789074 3 21 0 - - 0 1 1 ANKRD28|CCDS46769.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ANKRD28|CCDS46769.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 2 0 0 31 36 31 36 6 2 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688630701 3 48487538 G GA 720 PASS ATRIP CCDS2768.1 r.? - - Ins upstream I 48487538 48487548 1 45 637.51 - - 9 1 1 ATRIP|CCDS2768.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ATRIP|CCDS2768.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 6 16 6 16 0 0 ./. 4 8 6 10 21 36 22 36 6 11 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688636763 3 72039894 G GA 780 PASS - - - - - Ins - I 72039894 72039904 1 50 685.97 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 9 5 12 27 33 27 33 5 12 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688641633 3 86442960 TA T 480 PASS - - - - - Del - D 86442960 86442970 1 24 431.027 - - 9 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 3 6 5 25 22 25 22 6 5 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688643422 3 96163260 TTCA T 300 PASS - - - - - Del - D 96163260 96163265 3 12 269.392 - - 1 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 3 2 3 2 35 40 35 40 3 2 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688643741 3 98062075 TCC T 600 PASS - - - - - Del - D 98062075 98062079 2 32 537.58 - - 3 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 7 3 8 4 37 26 37 26 8 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688647765 3 113323537 TTC T 660 PASS SIDT1 CCDS2974.1 r.? - - Del intronic D 113323537 113323541 2 42 592.662 - - 1 1 1 SIDT1|CCDS2974.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SIDT1|CCDS2974.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 5 6 8 8 32 22 32 22 8 8 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688694903 4 81852892 A ACACG 447 PASS C4orf22 CCDS3587.1 r.? - - Ins intronic I 81852892 81852894 4 24 455.752 - - 0 1 - C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 7 4 7 26 31 27 31 4 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688698736 4 95494893 TTTAA T 389 PASS PDLIM5 CCDS3641.1 r.? - - Del intronic D 95494893 95494899 4 20 376.951 - - 1 1 1 PDLIM5|CCDS3641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDLIM5|CCDS3641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 15 5 15 0 0 ./. 4 3 5 3 30 36 30 36 5 3 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688708027 4 132170700 TC T 480 PASS - - - - - Del - D 132170700 132170703 1 21 430.801 - - 2 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 6 2 6 4 38 31 38 31 6 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688708034 4 132232416 G GT 960 PASS - - - - - Ins - I 132232416 132232425 1 81 851.367 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 17 0 0 ./. 8 8 10 11 38 29 38 30 10 11 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688713424 4 151363276 CTCAGATTTTTTACAAAGCAGAGATTT C 348 PASS LRBA CCDS3773.1 r.? - - Del intronic D 151363276 151363303 26 45 646.202 - - 1 1 1 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 8 4 7 4 34 30 35 30 8 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688713519 4 151772206 G GTAA 329 PASS LRBA CCDS3773.1 r.? - - Ins intronic I 151772206 151772213 3 15 310.458 - - 2 1 1 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 10 12 0 0 ./. 4 2 4 2 35 29 38 29 4 2 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688715630 4 159124200 C CCT 298 PASS TMEM144 ENST00000505189 r.? - - Ins intronic I 159124200 159124201 2 12 314.07 - - 0 1 - TMEM144|ENST00000505189|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TMEM144|ENST00000505189|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 1 5 0 0 34 15 34 15 1 5 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688716429 4 161645417 A AT 749 PASS - - - - - Ins - I 161645417 161645425 1 56 692.225 - - 7 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 7 8 10 32 45 32 45 8 10 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688721438 4 177553682 G GGT 267 PASS - - - - - Ins - I 177553682 177553683 2 12 308.049 - - 0 1 1 - - ./. 0 0 0 0 7 3 7 3 0 0 ./. 1 5 0 0 33 38 34 38 1 5 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688725260 4 188061027 T TA 420 PASS - - - - - Ins - I 188061027 188061033 1 20 372.135 - - 5 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 3 6 6 25 20 26 20 6 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688736427 5 29239490 TTTCTTTCTTTCTTTCTTTC T 267 PASS - - - - - Del - D 29239490 29239512 19 15 323.639 - - 1 1 - - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 2 4 0 0 17 21 17 21 2 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688736698 5 29717791 ATG A 540 PASS - - - - - Del - D 29717791 29717795 2 30 485.458 - - 1 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 5 4 7 7 29 27 29 27 7 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688747407 5 74801890 TATTTTTCAAAA T 290 PASS COL4A3BP CCDS47235.1 r.815_825delUUUUGAAAAAU c.521_531delTTTTGAAAAAT p.V174fs*9 Del frameshift D 74801890 74801902 11 27 539.398 - - 1 1 1 COL4A3BP|CCDS47235.1|r.815_825delUUUUGAAAAAU|c.521_531delTTTTGAAAAAT|p.V174fs*9|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 COL4A3BP|CCDS47235.1|r.815_825delUUUUGAAAAAU|c.521_531delTTTTGAAAAAT|p.V174fs*9|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 8 2 9 22 33 22 33 2 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688753812 5 99618468 CAG C 488 PASS - - - - - Del - D 99618468 99618471 2 30 485.458 - - 1 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 4 6 7 17 22 17 22 6 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688755388 5 105554933 A AT 720 PASS - - - - - Ins - I 105554933 105554943 1 48 638.849 - - 9 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 7 7 7 34 30 36 30 7 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688761372 5 127932186 G GT 600 PASS FBN2 ENST00000508053 r.? - - Ins intronic I 127932186 127932188 1 36 533.378 - - 1 1 1 FBN2|ENST00000508053|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FBN2|ENST00000508053|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 6 18 6 0 0 ./. 5 5 6 7 43 27 44 27 6 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688762008 5 131131887 TC T 480 PASS FNIP1 CCDS34226.1 r.? - - Del intronic D 131131887 131131890 1 25 430.916 - - 2 1 1 FNIP1|CCDS34226.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FNIP1|CCDS34226.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 4 6 11 35 32 35 32 6 11 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688763613 5 137951578 T TA 720 PASS - - - - - Ins - I 137951578 137951586 1 40 640.053 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 9 5 10 25 27 26 27 5 10 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688770575 5 165658047 AG A 840 PASS - - - - - Del - D 165658047 165658050 1 63 754.555 - - 2 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 8 9 15 31 42 31 42 9 15 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688781970 6 22150837 AAAAT A 300 PASS AL008732.1 ENST00000511541 r.? - - Del upstream D 22150837 22150843 4 12 269.945 - - 1 1 1 AL008732.1|ENST00000511541|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 AL008732.1|ENST00000511541|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 20 8 20 8 0 0 ./. 2 3 3 4 18 13 18 13 3 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688788167 6 40622839 GCTGGTAATAATGATAGTGATGATGATGGTGAAGATCATGATGATGTT GGTGGTAATAGTGATGGTGGTGAAGATGATGATGATGGC 261 PASS - - - - - Complex - DI 40622840 40622886 47 28 0 - - 0 1 - - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 6 3 0 0 39 44 39 44 6 3 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688797197 6 72026201 T TATATACACACATATATGTATATATAC 333 PASS - - - - - Ins - I 72026201 72026205 26 28 345.02 - - 0 1 - - - ./. 0 0 0 0 17 12 18 12 0 0 ./. 3 6 0 0 23 27 31 33 3 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688799053 6 79194496 A AT 1080 PASS - - - - - Ins - I 79194496 79194504 1 84 959.763 - - 7 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 13 5 14 9 36 29 36 29 14 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688820300 6 164864721 T TTG 360 PASS - - - - - Ins - I 164864721 164864722 2 15 316.71 - - 0 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 4 2 5 19 14 21 14 2 5 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688833431 7 38613252 G GT 300 PASS AMPH CCDS5456.1 r.? - - Ins intronic I 38613252 38613259 1 12 266.729 - - 6 1 1 AMPH|CCDS5456.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AMPH|CCDS5456.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 2 3 2 3 30 24 30 25 2 3 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688842659 7 67590207 G GA 300 PASS - - - - - Ins - I 67590207 67590217 1 12 266.729 - - 9 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 2 3 19 42 19 42 2 3 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688855142 7 112461889 AG A 840 PASS C7orf60 CCDS43634.1 r.1293delC c.1127delC p.P376fs*22 Del frameshift D 112461889 112461893 1 55 755.271 - - 3 1 1 C7orf60|CCDS43634.1|r.1293delC|c.1127delC|p.P376fs*22|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 C7orf60|CCDS43634.1|r.1293delC|c.1127delC|p.P376fs*22|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 10 6 13 26 35 26 35 6 13 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688855464 7 114107550 CCAAA C 627 PASS FOXP2 CCDS43635.1 r.? - - Del intronic D 114107550 114107559 4 48 646.773 - - 2 1 1 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 7 5 7 7 17 19 17 19 7 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688860622 7 132118633 AG A 780 PASS PLXNA4 CCDS43646.1 r.? - - Del intronic D 132118633 132118640 1 50 701.323 - - 6 1 1 PLXNA4|CCDS43646.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNA4|CCDS43646.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 9 6 13 23 35 23 35 6 13 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688860871 7 133023376 AAT A 418 PASS EXOC4 CCDS5829.1 r.? - - Del intronic D 133023376 133023379 2 24 403.287 - - 1 1 - EXOC4|CCDS5829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC4|CCDS5829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 3 6 6 35 19 35 19 8 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688861446 7 135092449 G GGT 1169 PASS CNOT4 CCDS47719.1 r.? - - Ins intronic I 135092449 135092450 2 112 1054.27 - - 0 1 1 CNOT4|CCDS47719.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNOT4|CCDS47719.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 3 6 4 0 0 ./. 13 7 0 0 42 26 42 26 13 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688864104 7 144703898 TC T 778 PASS - - - - - Del - D 144703898 144703902 1 60 755.271 - - 3 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 9 5 14 11 47 39 47 39 14 11 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688881102 8 39504255 GAAATATAC G 261 PASS ADAM18 CCDS6113.1 r.? - - Del intronic D 39504255 39504265 8 28 486.058 - - 1 1 1 ADAM18|CCDS6113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM18|CCDS6113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 6 3 6 4 26 37 26 37 6 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688884354 8 56303590 C CA 960 PASS XKR4 CCDS34893.1 r.? - - Ins intronic I 56303590 56303599 1 77 854.47 - - 8 1 1 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 10 6 14 10 49 35 49 35 14 10 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688886351 8 64959060 C CT 360 PASS - - - - - Ins - I 64959060 64959068 1 16 320.426 - - 7 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 3 4 4 27 31 28 31 4 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688904933 8 137111848 GT G 900 PASS - - - - - Del - D 137111848 137111858 1 42 810.096 - - 9 1 1 - - ./. 0 0 0 0 14 4 14 4 0 0 ./. 13 2 14 5 31 18 31 18 14 5 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688917636 9 35883863 A ATG 295 PASS - - - - - Ins - I 35883863 35883865 2 16 422.914 - - 0 1 - - - ./. 0 0 0 0 20 11 20 11 0 0 ./. 1 7 0 0 30 39 30 39 1 7 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688918197 9 37573608 CCCCATTGGAATGTATAAGCCCCCAGAGAGG C 580 PASS FBXO10 CCDS47966.1 r.? - - Del intronic D 37573608 37573640 30 120 1081.37 - - 1 1 1 FBXO10|CCDS47966.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FBXO10|CCDS47966.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 11 9 11 6 35 30 35 33 11 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688919976 9 66465852 ACTAT A 273 PASS - - - - - Del - D 66465852 66465859 4 16 432.546 - - 1 1 1 - - ./. 0 0 0 0 55 34 56 34 0 0 ./. 7 1 8 2 149 96 149 96 8 2 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688923687 9 74438509 T TA 300 PASS - - - - - Ins - I 74438509 74438510 1 12 261.913 - - 0 1 - - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 2 5 3 28 26 31 26 5 3 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688941196 9 137639807 G GCGCACATGCATTCACA 319 PASS COL5A1 CCDS6982.1 r.? - - Ins intronic I 137639807 137639809 16 30 486.983 - - 0 1 - COL5A1|CCDS6982.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL5A1|CCDS6982.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 9 0 0 29 67 29 67 2 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688951925 X 54386392 CTG C 720 PASS WNK3 CCDS35302.1 r.? - - Del upstream D 54386392 54386395 2 48 642.893 - - 1 1 1 WNK3|CCDS35302.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 WNK3|CCDS35302.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 9 11 9 0 0 ./. 7 5 11 6 26 27 26 27 11 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688952046 X 55549816 C CATATATGTATATATATGTATATATATACACATATGTGTGTGTACACATAT 420 PASS - - - - - Ins - I 55549816 55549823 50 18 168.163 - - 0 1 - - - ./. 0 0 0 0 15 5 15 5 0 0 ./. 2 5 0 0 44 37 44 38 2 5 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688952427 X 58199490 GGTT G 540 PASS - - - - - Del - D 58199490 58199495 3 30 487.136 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 4 9 13 25 30 25 30 9 13 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688954873 X 77984908 CT C 420 PASS - - - - - Del - D 77984908 77984916 1 18 378.884 - - 7 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 5 5 6 26 34 26 34 5 6 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688955264 X 79441737 GT G 660 PASS - - - - - Del - D 79441737 79441739 1 36 595.389 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 8 3 10 17 23 17 23 3 10 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688957432 X 89290296 A AG 389 PASS - - - - - Ins - I 89290296 89290297 1 18 374.067 - - 0 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 2 0 0 24 17 24 17 5 2 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688961368 X 112740118 C CA 540 PASS - - - - - Ins - I 112740118 112740126 1 24 481.718 - - 7 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 7 2 7 4 36 25 36 25 7 4 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688963246 X 121501080 C CA 960 PASS - - - - - Ins - I 121501080 121501088 1 77 853.979 - - 7 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 10 6 12 9 39 29 39 30 12 9 1 1 1 1 1 1 1 1 2626949 PD9596a PD9596b 2688966290 X 138049523 C CA 720 PASS FGF13 ENST00000370603 r.? - - Ins intronic I 138049523 138049530 1 49 641.688 - - 6 1 1 FGF13|ENST00000370603|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FGF13|ENST00000370603|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 6 6 9 11 36 29 37 29 9 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729396509 1 2574939 AG A 1560 PASS TTC34 ENST00000401094 r.? - - Del intronic D 2574939 2574942 1 195 1388.95 - - 2 1 1 TTC34|ENST00000401094|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC34|ENST00000401094|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 14 12 16 16 48 32 48 32 16 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729397486 1 5606264 ATAAAAACAAAG A 435 PASS - - - - - Del - D 5606264 5606280 11 66 802.014 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 5 10 6 11 40 55 40 55 6 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729402568 1 15588517 GCA G 300 PASS FHAD1 CCDS44062.1 r.? - - Del intronic D 15588517 15588535 2 10 258.909 - - 8 1 - FHAD1|CCDS44062.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FHAD1|CCDS44062.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 4 1 5 61 46 61 46 1 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729403464 1 16904107 G GAAGA 493 PASS AL355149.1 ENST00000515775 r.? - - Ins intronic I 16904107 16904112 4 18 868.01 - - 1 1 1 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 33 45 33 45 0 0 ./. 0 17 1 20 142 198 142 199 1 20 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729415146 1 39852121 TG T 360 PASS MACF1 CCDS436.1 r.? - - Del intronic D 39852121 39852123 1 7 309.367 - - 1 1 1 MACF1|CCDS436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACF1|CCDS436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 6 0 7 0 32 60 32 60 7 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729416947 1 43450036 CTA C 269 PASS - - - - - Del - D 43450036 43450042 2 10 257.103 - - 2 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 1 9 11 30 34 31 34 9 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729418808 1 47006216 AAC A 420 PASS - - - - - Del - D 47006216 47006230 2 18 371.865 - - 6 1 - - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 2 5 3 44 36 44 36 5 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729419136 1 47818699 AAGGTGAT A 783 PASS CMPK1 CCDS549.1 r.? - - Del intronic D 47818699 47818707 7 190 1443.63 - - 1 1 1 CMPK1|CCDS549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CMPK1|CCDS549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 9 18 11 23 45 56 45 56 11 23 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729419764 1 50020047 A AT 1200 PASS AGBL4 CCDS44137.1 r.? - - Ins intronic I 50020047 50020057 1 120 1053.1 - - 9 1 1 AGBL4|CCDS44137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGBL4|CCDS44137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 11 9 15 14 40 45 43 46 15 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729422587 1 56424534 C CT 300 PASS - - - - - Ins - I 56424534 56424544 1 12 264.328 - - 9 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 2 3 2 36 55 36 55 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729423042 1 57696008 A AC 358 PASS DAB1 CCDS607.1 r.? - - Ins intronic I 57696008 57696009 1 20 363.436 - - 0 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 4 3 5 28 45 30 45 3 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729430970 1 77115661 ATG A 300 PASS - - - - - Del - D 77115661 77115677 2 12 266.134 - - 7 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 2 3 2 48 34 48 34 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729431253 1 77945334 ACT A 277 PASS AK5 CCDS676.1 r.? - - Del intronic D 77945334 77945351 2 12 267.338 - - 8 1 1 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 3 3 3 38 42 38 42 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729431415 1 78237843 CCT C 360 PASS - - - - - Del - D 78237843 78237858 2 15 320.806 - - 7 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 4 1 4 51 43 51 43 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729431789 1 79042220 C CT 300 PASS AL136324.1 ENST00000513923 r.? - - Ins intronic I 79042220 79042230 1 12 263.726 - - 9 1 1 AL136324.1|ENST00000513923|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL136324.1|ENST00000513923|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 3 2 4 2 45 49 46 49 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729433564 1 83253963 CAG C 300 PASS - - - - - Del - D 83253963 83253980 2 12 264.328 - - 8 1 1 - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 3 2 3 4 54 45 54 45 3 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729436493 1 90677746 G GT 1320 PASS - - - - - Ins - I 90677746 90677753 1 135 1157.02 - - 6 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 14 8 18 13 53 41 54 41 18 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729440389 1 99220393 G GT 300 PASS SNX7 CCDS755.2 r.? - - Ins intronic I 99220393 99220403 1 12 263.124 - - 9 1 1 SNX7|CCDS755.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNX7|CCDS755.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 2 3 2 6 58 69 60 69 2 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729442352 1 104347774 ATAATT A 780 PASS - - - - - Del - D 104347774 104347785 5 54 692.671 - - 2 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 8 5 9 7 39 29 39 29 9 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729443478 1 106948211 C CA 1289 PASS - - - - - Ins - I 106948211 106948217 1 143 1157.02 - - 5 1 1 - - ./. 0 0 0 0 17 12 18 12 0 0 ./. 10 12 14 12 38 24 38 24 14 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729444468 1 109457155 TA T 300 PASS GPSM2 CCDS792.2 r.? - - Del intronic D 109457155 109457165 1 12 266.736 - - 9 1 1 GPSM2|CCDS792.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPSM2|CCDS792.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 2 3 2 49 41 49 41 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729445977 1 113003543 G GA 900 PASS CTTNBP2NL CCDS845.1 r.5654_5655insa c.? p.? Ins 3'UTR variant I 113003543 113003546 1 66 792.984 - - 2 1 - CTTNBP2NL|CCDS845.1|r.5654_5655insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 CTTNBP2NL|CCDS845.1|r.5654_5655insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 11 17 11 17 0 0 ./. 10 5 16 10 48 40 48 40 16 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729448713 1 119231544 CA C 269 PASS - - - - - Del - D 119231544 119231553 1 12 267.338 - - 8 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 2 3 2 3 55 44 55 44 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729449327 1 120843475 C CTT 290 PASS FAM72B CCDS41374.1 r.? - - Ins intronic I 120843475 120843478 2 27 512.4 - - 2 1 - FAM72B|CCDS41374.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM72B|CCDS41374.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 8 2 9 13 71 90 71 90 9 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729451927 1 143512869 G GA 979 PASS - - - - - Ins - I 143512869 143512872 1 117 1055.51 - - 2 1 1 - - ./. 0 0 0 0 70 69 70 70 0 0 ./. 12 8 16 12 248 305 250 311 16 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729454067 1 147248079 A AG 360 PASS GJA5 CCDS929.1 r.? - - Ins upstream I 147248079 147248080 1 16 313.581 - - 0 1 1 GJA5|CCDS929.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 GJA5|CCDS929.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 3 3 4 66 60 66 60 3 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729454588 1 148826174 C CT 322 PASS - - - - - Ins - I 148826174 148826181 1 84 949.172 - - 6 1 1 - - ./. 0 0 0 0 5 19 5 19 0 0 ./. 5 13 9 14 40 79 40 81 9 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729456578 1 151000257 TGC T 480 PASS PRUNE CCDS977.1 r.? - - Del intronic D 151000257 151000267 2 24 423.527 - - 4 1 - PRUNE|CCDS977.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRUNE|CCDS977.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 3 5 3 6 78 55 78 55 3 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729458768 1 154240674 C CT 1107 PASS UBAP2L CCDS1063.1 r.? - - Ins intronic I 154240674 154240683 1 105 1047.68 - - 8 1 1 UBAP2L|CCDS1063.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UBAP2L|CCDS1063.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 14 9 21 83 84 84 85 9 21 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729458917 1 154376765 TC T 660 PASS IL6R CCDS1067.1 r.? - - Del upstream D 154376765 154376767 1 12 572.49 - - 1 1 1 IL6R|CCDS1067.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 IL6R|CCDS1067.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 12 13 12 0 0 ./. 11 0 25 0 99 40 99 40 25 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729459049 1 154562623 CCG C 329 PASS ADAR CCDS1071.1 r.? - - Del intronic D 154562623 154562627 2 15 312.377 - - 1 1 1 ADAR|CCDS1071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAR|CCDS1071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 11 2 84 49 84 49 11 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729461014 1 157055470 TG T 300 PASS - - - - - Del - D 157055470 157055472 1 6 253.491 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 0 17 0 58 62 58 65 17 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729462504 1 160392710 TA T 269 PASS VANGL2 CCDS30915.1 r.? - - Del intronic D 160392710 160392712 1 6 258.909 - - 1 1 1 VANGL2|CCDS30915.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VANGL2|CCDS30915.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 0 9 0 70 77 70 77 9 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729464154 1 163080697 G GGT 325 PASS - - - - - Ins - I 163080697 163080698 2 16 411.485 - - 0 1 - - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 1 7 2 1 79 74 80 75 3 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729464233 1 163213603 AAC A 360 PASS - - - - - Del - D 163213603 163213621 2 12 317.795 - - 8 1 - - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 5 1 5 2 92 43 92 43 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729465168 1 164938067 CAT C 480 PASS - - - - - Del - D 164938067 164938083 2 21 427.741 - - 7 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 6 2 6 3 87 72 87 72 6 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729465778 1 165982120 A AT 1080 PASS - - - - - Ins - I 165982120 165982126 1 100 950.978 - - 5 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 9 9 14 13 82 77 82 78 14 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729467919 1 169720070 AAT A 360 PASS - - - - - Del - D 169720070 169720086 2 16 320.806 - - 7 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 3 3 5 53 69 53 69 3 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729468306 1 170461760 G GA 360 PASS - - - - - Ins - I 170461760 170461770 1 7 315.387 - - 9 1 1 - - ./. 0 0 0 0 25 14 25 14 0 0 ./. 6 0 7 1 93 58 94 59 7 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729472380 1 177903124 T TC 269 PASS SEC16B CCDS44281.1 r.? - - Ins intronic I 177903124 177903131 1 12 257.705 - - 6 1 1 SEC16B|CCDS44281.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SEC16B|CCDS44281.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 5 10 80 81 82 81 5 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729473384 1 179321225 TA T 360 PASS SOAT1 CCDS1330.1 r.? - - Del intronic D 179321225 179321229 1 7 314.785 - - 3 1 1 SOAT1|CCDS1330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SOAT1|CCDS1330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 6 0 9 0 88 43 88 43 9 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729473633 1 179626461 CATGTTCTGTTAA C 754 PASS TDRD5 CCDS1332.1 r.? - - Del intronic D 179626461 179626474 12 195 1390.16 - - 1 1 1 TDRD5|CCDS1332.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TDRD5|CCDS1332.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 12 14 12 17 70 78 70 78 12 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729475494 1 182798485 CTTT C 1318 PASS NPL CCDS1350.1 r.1450_1452delUUU c.? p.? Del 3'UTR variant D 182798485 182798489 3 150 1229.15 - - 3 1 1 NPL|CCDS1350.1|r.1450_1452delUUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 NPL|CCDS1350.1|r.1450_1452delUUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 10 14 10 0 0 ./. 14 9 21 10 81 80 81 80 21 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729475962 1 183479542 A AT 300 PASS SMG7 CCDS1355.1 r.? - - Ins intronic I 183479542 183479552 1 6 264.328 - - 9 1 1 SMG7|CCDS1355.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMG7|CCDS1355.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 5 0 6 0 66 66 67 67 6 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729477147 1 185673852 GA G 1200 PASS - - - - - Del - D 185673852 185673857 1 117 1068.15 - - 4 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 8 12 12 17 77 82 77 82 12 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729478009 1 187278845 GTC G 300 PASS - - - - - Del - D 187278845 187278863 2 12 267.338 - - 8 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 2 4 4 80 71 80 71 4 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729478428 1 188122386 ATCT A 987 PASS - - - - - Del - D 188122386 188122394 3 96 962.417 - - 2 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 11 7 14 10 60 73 60 73 14 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729481056 1 192798164 T TA 633 PASS - - - - - Ins - I 192798164 192798173 1 72 844.043 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 11 7 15 78 74 80 74 7 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729482365 1 195100742 C CA 1380 PASS - - - - - Ins - I 195100742 195100750 1 144 1214.1 - - 7 1 1 - - ./. 0 0 0 0 10 29 10 29 0 0 ./. 8 15 10 16 94 105 95 105 10 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729483127 1 196715592 C CA 388 PASS CFH CCDS1385.1 r.? - - Ins intronic I 196715592 196715600 1 16 422.323 - - 7 1 1 CFH|CCDS1385.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CFH|CCDS1385.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 33 15 33 0 0 ./. 1 7 3 9 65 77 65 77 3 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729483612 1 197721092 G GAGGAGGAGGAGAAGGAGAAGAAGAAGAAGAAGTAGAAGGAGGAGAAGAAGGAAGAGA 420 PASS DENND1B CCDS44289.1 r.? - - Ins intronic I 197721092 197721125 57 14 133.449 - - 0 1 1 DENND1B|CCDS44289.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DENND1B|CCDS44289.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 6 1 0 0 105 18 105 18 6 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729487080 1 203130716 TG T 300 PASS ADORA1 CCDS1434.1 r.? - - Del intronic D 203130716 203130718 1 6 235.429 - - 1 1 1 ADORA1|CCDS1434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADORA1|CCDS1434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 0 15 0 69 102 69 102 15 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729487081 1 203132435 CTT C 929 PASS ADORA1 CCDS1434.1 r.? - - Del intronic D 203132435 203132440 2 81 853.074 - - 4 1 1 ADORA1|CCDS1434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADORA1|CCDS1434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 8 8 10 11 61 72 61 72 10 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729487814 1 204027008 AG A 269 PASS - - - - - Del - D 204027008 204027010 1 10 266.736 - - 1 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 4 1 6 3 75 76 75 76 6 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729493242 1 213462853 AATT A 894 PASS - - - - - Del - D 213462853 213462857 3 99 962.417 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 8 10 10 10 67 62 67 62 10 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729493425 1 213871988 G GTA 300 PASS - - - - - Ins - I 213871988 213872004 2 6 261.318 - - 7 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 5 0 8 0 85 77 87 78 8 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729493537 1 214111029 T TA 360 PASS - - - - - Ins - I 214111029 214111030 1 12 310.571 - - 0 1 - - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 1 7 1 76 81 76 81 7 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729494705 1 216190189 TTG T 269 PASS USH2A CCDS31025.1 r.? - - Del intronic D 216190189 216190209 2 12 266.134 - - 9 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 3 2 4 45 65 45 65 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729496611 1 219653626 C CT 480 PASS - - - - - Ins - I 219653626 219653636 1 24 418.71 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 3 12 6 93 67 93 68 12 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729496751 1 219890206 GCT G 600 PASS - - - - - Del - D 219890206 219890223 2 32 534.676 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 7 3 9 4 69 69 69 69 9 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729497661 1 221342367 TTA T 300 PASS - - - - - Del - D 221342367 221342372 2 6 261.318 - - 2 1 - - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 5 0 6 0 59 98 59 98 7 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729498254 1 222583607 TTA T 478 PASS - - - - - Del - D 222583607 222583611 2 10 455.32 - - 1 1 - - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 9 0 21 0 83 59 83 59 21 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729498969 1 223964806 CCT C 300 PASS TP53BP2 CCDS1538.1 r.? - - Del downstream D 223964806 223964823 2 12 267.338 - - 8 1 1 TP53BP2|CCDS1538.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TP53BP2|CCDS1538.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 13 6 13 0 0 ./. 3 2 3 4 58 55 58 55 3 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729500717 1 226352490 C CT 300 PASS ACBD3 CCDS1551.1 r.623_624insa c.568_569insA p.R190fs*11 Ins frameshift I 226352490 226352500 1 12 263.726 - - 9 1 1 ACBD3|CCDS1551.1|r.623_624insa|c.568_569insA|p.R190fs*11|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ACBD3|CCDS1551.1|r.623_624insa|c.568_569insA|p.R190fs*11|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 11 12 12 12 0 0 ./. 2 3 2 4 77 38 79 38 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729501707 1 227721240 AGT A 360 PASS - - - - - Del - D 227721240 227721257 2 15 320.806 - - 8 1 1 - - ./. 0 0 0 0 21 9 21 9 0 0 ./. 4 2 5 3 87 57 87 57 5 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729502082 1 228612119 TAC T 389 PASS HIST3H3 CCDS1572.1 r.? - - Del downstream D 228612119 228612138 2 20 373.069 - - 9 1 1 HIST3H3|CCDS1572.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 HIST3H3|CCDS1572.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 3 7 7 67 54 67 54 7 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729503713 1 231503032 TTGAC T 2539 PASS EGLN1 CCDS1595.1 r.? - - Del intronic D 231503032 231503040 4 561 2564.64 - - 1 1 1 EGLN1|CCDS1595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EGLN1|CCDS1595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 32 16 39 16 82 54 82 55 39 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729506305 1 235626327 GTA G 360 PASS B3GALNT2 CCDS1606.1 r.? - - Del intronic D 235626327 235626342 2 16 320.806 - - 7 1 1 B3GALNT2|CCDS1606.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 B3GALNT2|CCDS1606.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 21 21 21 0 0 ./. 3 3 3 2 45 66 45 66 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729507292 1 236784691 TA T 416 PASS - - - - - Del - D 236784691 236784700 1 28 480.607 - - 8 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 6 3 7 3 67 57 67 57 7 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729507506 1 237075285 A AT 2690 PASS - - - - - Ins - I 237075285 237075294 1 612 2637.86 - - 8 1 1 - - ./. 0 0 0 0 17 13 18 13 0 0 ./. 17 33 34 55 70 111 70 113 34 55 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729508127 1 237983929 G GT 1496 PASS RYR2 ENST00000366574 r.? - - Ins intronic I 237983929 237983937 1 180 1426.17 - - 7 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 17 16 0 0 ./. 19 8 24 14 94 70 95 70 24 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729508179 1 238085325 CAG C 329 PASS - - - - - Del - D 238085325 238085345 2 16 317.193 - - 9 1 - - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 5 4 68 83 68 83 5 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729509192 1 239911010 TA T 2520 PASS CHRM3 CCDS1616.1 r.? - - Del intronic D 239911010 239911015 1 483 2245.04 - - 4 1 1 CHRM3|CCDS1616.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHRM3|CCDS1616.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 22 20 29 30 78 60 78 60 29 30 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729509513 1 240340677 TTC T 329 PASS FMN2 CCDS31069.2 r.? - - Del intronic D 240340677 240340681 2 7 316.591 - - 1 1 1 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 6 0 10 0 55 61 55 61 10 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729510112 1 241129467 T TA 1140 PASS RGS7 CCDS31071.1 r.? - - Ins intronic I 241129467 241129477 1 108 999.027 - - 9 1 1 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 19 23 19 0 0 ./. 11 8 12 12 80 79 80 81 12 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729510576 1 241792815 CAT C 960 PASS CHML CCDS31073.1 r.6416_6417delAU c.? p.? Del 3'UTR variant D 241792815 241792821 2 65 854.88 - - 2 1 1 CHML|CCDS31073.1|r.6416_6417delAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CHML|CCDS31073.1|r.6416_6417delAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 12 5 16 68 84 68 84 5 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729512120 1 244045685 GAA G 420 PASS - - - - - Del - D 244045685 244045689 2 20 365.242 - - 3 1 - - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 4 3 4 47 81 47 81 3 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729514577 1 247405367 G GT 269 PASS - - - - - Ins - I 247405367 247405377 1 12 264.328 - - 9 1 1 - - ./. 0 0 0 0 9 24 9 24 0 0 ./. 2 3 4 3 71 68 71 68 4 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729514595 1 247426294 TC T 4102 PASS - - - - - Del - D 247426294 247426300 1 1215 3734.91 - - 5 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 26 44 36 53 59 91 59 91 36 53 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729516639 10 2494336 TATTA T 745 PASS - - - - - Del - D 2494336 2494344 4 72 805.295 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 7 8 11 15 50 47 50 47 11 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729517678 10 4621475 CA C 832 PASS - - - - - Del - D 4621475 4621483 1 60 752.171 - - 7 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 9 5 15 8 46 36 46 36 15 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729518827 10 6770939 G GA 300 PASS - - - - - Ins - I 6770939 6770949 1 10 265.622 - - 9 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 1 4 2 3 43 46 43 47 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729518986 10 7028688 AAG A 300 PASS - - - - - Del - D 7028688 7028692 2 6 268.632 - - 1 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 5 0 6 0 38 32 38 32 7 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729519266 10 7601824 G GT 840 PASS ITIH5 CCDS31139.1 r.6129_6130insa c.? p.? Ins 3'UTR variant I 7601824 7601834 1 60 742.538 - - 9 1 - ITIH5|CCDS31139.1|r.6129_6130insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ITIH5|ENST00000397146|r.2098_2099insa|c.2019_2020insA|p.Q674fs*>23|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 17 19 17 19 0 0 ./. 5 9 14 12 45 57 45 58 14 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729519572 10 8111432 TCA T 840 PASS GATA3 CCDS31143.1 r.1493-3_1493-2delca c.925-3_925-2delca p.? Del ess splice D 8111432 8111435 2 60 749.762 - - 1 1 1 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 9 14 12 27 26 27 26 14 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729523512 10 15341685 TA T 300 PASS FAM171A1 CCDS31154.1 r.? - - Del intronic D 15341685 15341695 1 6 268.03 - - 9 1 1 FAM171A1|CCDS31154.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM171A1|CCDS31154.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 5 0 5 0 51 55 51 55 5 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729525390 10 19352080 C CA 415 PASS ENSG00000234778 ENST00000455529 r.? - - Ins intronic I 19352080 19352090 1 18 368.861 - - 9 1 1 ENSG00000234778|ENST00000455529|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000234778|ENST00000455529|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 20 5 20 0 0 ./. 5 2 1 0 40 39 41 39 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729526652 10 21937144 T TA 1560 PASS MLLT10 CCDS7135.1 r.? - - Ins intronic I 21937144 21937145 1 187 1381.23 - - 0 1 1 MLLT10|CCDS7135.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MLLT10|CCDS7135.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 16 10 17 13 45 25 45 25 17 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729530901 10 30299847 AAT A 329 PASS KIAA1462 CCDS41500.1 r.? - - Del downstream D 30299847 30299863 2 16 318.746 - - 7 1 1 KIAA1462|CCDS41500.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AL160060.2|ENST00000502624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 3 4 46 55 46 55 3 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729531130 10 30679262 G GT 1517 PASS - - - - - Ins - I 30679262 30679272 1 196 1377.62 - - 9 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 13 13 16 16 45 54 46 54 16 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729531313 10 30914458 C CA 329 PASS LYZL2 CCDS7167.2 r.? - - Ins intronic I 30914458 30914468 1 15 316.338 - - 9 1 1 LYZL2|CCDS7167.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LYZL2|CCDS7167.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 12 25 12 0 0 ./. 4 2 4 2 64 44 64 44 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729532466 10 33285356 G GA 840 PASS ITGB1 ENST00000475184 r.? - - Ins intronic I 33285356 33285364 1 64 743.742 - - 7 1 1 ITGB1|ENST00000475184|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ITGB1|ENST00000475184|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 7 7 13 10 37 44 37 45 13 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729539806 10 51030270 CTG C 360 PASS PARG ENST00000402038 r.? - - Del intronic D 51030270 51030290 2 16 322.359 - - 9 1 - PARG|ENST00000402038|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARG|ENST00000402038|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 3 3 5 36 59 36 59 3 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729546266 10 65663781 G GT 360 PASS - - - - - Ins - I 65663781 65663791 1 12 318.746 - - 9 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 1 5 0 1 53 46 53 46 1 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729546853 10 67113069 T TG 300 PASS - - - - - Ins - I 67113069 67113070 1 6 257.193 - - 0 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 0 7 1 57 44 57 44 7 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729549952 10 72870343 G GT 300 PASS - - - - - Ins - I 72870343 72870353 1 12 262.01 - - 9 1 1 - - ./. 0 0 0 0 24 15 25 15 0 0 ./. 2 3 2 4 46 49 49 49 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729557913 10 91632170 AAC A 300 PASS - - - - - Del - D 91632170 91632188 2 10 268.632 - - 8 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 4 1 5 2 69 45 69 45 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729561258 10 98999879 AG A 300 PASS ARHGAP19 CCDS7454.2 r.? - - Del intronic D 98999879 98999885 1 12 268.632 - - 5 1 1 ARHGAP19|CCDS7454.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP19|CCDS7454.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 3 2 3 58 32 58 32 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729561673 10 99873037 GACA G 1018 PASS - - - - - Del - D 99873037 99873045 3 75 964.066 - - 2 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 14 4 18 7 44 36 44 36 18 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729565305 10 106957285 G GA 1500 PASS SORCS3 CCDS7558.1 r.? - - Ins intronic I 106957285 106957293 1 182 1322.69 - - 7 1 1 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 12 13 15 13 40 36 40 36 15 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729570240 10 119038975 ATGT A 656 PASS PDZD8 CCDS7600.1 r.? - - Del downstream D 119038975 119038984 3 54 695.434 - - 2 1 1 PDZD8|CCDS7600.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PDZD8|CCDS7600.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 11 12 11 0 0 ./. 8 5 9 16 46 52 46 52 9 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729571023 10 120839095 AG A 360 PASS EIF3A CCDS7608.1 r.? - - Del intronic D 120839095 120839100 1 15 322.359 - - 4 1 1 EIF3A|CCDS7608.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF3A|CCDS7608.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 2 4 2 46 53 46 53 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729571768 10 122123154 AAAT A 1016 PASS - - - - - Del - D 122123154 122123160 3 108 1020.2 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 11 8 18 12 58 34 58 34 18 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729572868 10 124244882 CTTCT C 1287 PASS HTRA1 CCDS7630.1 r.? - - Del intronic D 124244882 124244891 4 136 1235.71 - - 2 1 1 HTRA1|CCDS7630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HTRA1|CCDS7630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 7 16 8 18 31 40 31 40 8 18 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729574724 10 128267631 G GT 269 PASS - - - - - Ins - I 128267631 128267641 1 12 265.02 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 3 3 6 39 67 39 67 3 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729575859 10 131107393 CAT C 1620 PASS - - - - - Del - D 131107393 131107396 2 204 1449.41 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 16 11 21 15 56 33 56 33 21 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729576820 10 133672509 CT C 1140 PASS - - - - - Del - D 133672509 133672513 1 80 1014.18 - - 3 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 15 8 17 33 52 33 52 8 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729578353 11 1766709 TAC T 300 PASS ENSG00000244242 ENST00000382123 r.? - - Del intronic D 1766709 1766726 2 12 266.706 - - 8 1 - ENSG00000244242|ENST00000382123|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000244242|ENST00000382123|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 2 3 2 3 56 43 56 43 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729579085 11 3710115 TTGTGTG T 305 PASS NUP98 CCDS7746.1 r.? - - Del intronic D 3710115 3710122 6 30 589.041 - - 3 1 1 NUP98|CCDS7746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUP98|CCDS7746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 2 8 2 0 0 ./. 9 2 15 4 20 4 20 4 15 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729580193 11 5919981 GGT G 4200 PASS TRIM5 ENST00000412903 r.? - - Del intronic D 5919981 5919989 2 1295 3761.58 - - 3 1 1 TRIM5|ENST00000412903|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRIM5|ENST00000412903|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 8 21 8 0 0 ./. 36 34 41 43 51 58 51 58 41 43 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729581592 11 9241113 C CA 300 PASS DENND5A CCDS31423.1 r.? - - Ins intronic I 9241113 9241123 1 10 264.298 - - 9 1 1 DENND5A|CCDS31423.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DENND5A|CCDS31423.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 1 4 2 50 43 50 44 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729583113 11 12326198 C CAT 300 PASS MICALCL CCDS41620.1 r.? - - Ins intronic I 12326198 12326200 2 12 257.073 - - 0 1 - MICALCL|CCDS41620.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MICALCL|CCDS41620.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 2 3 8 4 29 16 29 17 8 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729584240 11 15047279 CT C 1200 PASS CALCB CCDS7820.1 r.? - - Del intronic D 15047279 15047284 1 121 1075.86 - - 4 1 1 CALCB|CCDS7820.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CALCB|CCDS7820.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 10 10 14 15 43 41 43 41 14 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729590244 11 29213536 AT A 2849 PASS - - - - - Del - D 29213536 29213541 1 625 2582.29 - - 4 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 24 24 33 30 42 36 42 36 33 30 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729592338 11 34063871 C CA 720 PASS - - - - - Ins - I 34063871 34063880 1 48 636.242 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 7 13 16 52 65 52 65 13 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729593277 11 36328619 CG C 1380 PASS - - - - - Del - D 36328619 36328622 1 154 1237.93 - - 2 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 10 13 13 19 39 43 39 43 13 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729594149 11 38755625 G GT 360 PASS - - - - - Ins - I 38755625 38755635 1 12 317.519 - - 9 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 5 1 5 1 48 49 48 50 5 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729595313 11 41387605 C CT 300 PASS - - - - - Ins - I 41387605 41387615 1 12 252.257 - - 9 1 1 - - ./. 0 0 0 0 15 21 16 21 0 0 ./. 3 2 4 2 51 38 51 39 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729596492 11 44160004 G GT 300 PASS EXT2 CCDS7908.1 r.? - - Ins intronic I 44160004 44160014 1 12 262.492 - - 9 1 1 EXT2|CCDS7908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EXT2|CCDS7908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 5 2 54 46 54 46 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729596568 11 44336259 T TG 507 PASS ALX4 CCDS31468.1 r.? - - Ins upstream I 44336259 44336267 1 27 530.402 - - 7 1 1 ALX4|CCDS31468.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ALX4|CCDS31468.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 8 3 13 17 29 17 29 3 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729596956 11 45659056 CATT C 1256 PASS - - - - - Del - D 45659056 45659060 3 144 1236.12 - - 1 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 15 8 20 9 48 44 49 44 21 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729600471 11 56763102 TTC T 300 PASS - - - - - Del - D 56763102 56763118 2 10 267.91 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 1 4 2 5 30 33 30 33 2 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729600712 11 57390624 AAG A 360 PASS - - - - - Del - D 57390624 57390640 2 7 319.325 - - 7 1 - - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 0 6 0 7 12 51 12 51 0 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729601703 11 59901414 T TA 360 PASS - - - - - Ins - I 59901414 59901422 1 15 317.519 - - 7 1 1 - - ./. 0 0 0 0 16 24 16 24 0 0 ./. 4 2 5 2 47 44 47 44 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729604425 11 65475040 GGA G 360 PASS KAT5 CCDS8110.1 r.? - - Del upstream D 65475040 65475057 2 15 321.733 - - 8 1 1 KAT5|CCDS8110.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KAT5|CCDS8110.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 4 3 4 37 43 37 43 3 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729605868 11 68072720 GCT G 300 PASS - - - - - Del - D 68072720 68072736 2 10 269.114 - - 7 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 4 1 3 26 54 26 54 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729606417 11 69335161 AAG A 300 PASS - - - - - Del - D 69335161 69335180 2 6 269.114 - - 9 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 0 5 1 38 41 38 41 5 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729610020 11 77597493 GGTGTTGATGCCAT G 466 PASS INTS4 CCDS31644.1 r.? - - Del intronic D 77597493 77597510 13 90 911.979 - - 1 1 1 INTS4|CCDS31644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INTS4|CCDS31644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 8 9 5 9 34 35 37 35 8 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729612942 11 85086009 AAC A 389 PASS DLG2 CCDS44690.1 r.? - - Del intronic D 85086009 85086028 2 18 376.158 - - 9 1 1 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 5 3 5 47 59 47 59 3 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729615092 11 90723386 ATTT A 1198 PASS - - - - - Del - D 90723386 90723390 3 130 1129.68 - - 3 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 9 12 12 14 35 41 35 41 12 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729615838 11 92806587 TGC T 298 PASS - - - - - Del - D 92806587 92806596 2 12 315.713 - - 4 1 - - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 1 5 1 5 35 57 35 57 1 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729617102 11 95898371 AT A 269 PASS MAML2 CCDS44714.1 r.? - - Del intronic D 95898371 95898381 1 12 250.451 - - 9 1 1 MAML2|CCDS44714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAML2|CCDS44714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 3 5 4 39 56 39 56 5 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729617189 11 96092984 C CA 480 PASS CCDC82 CCDS8307.1 r.? - - Ins intronic I 96092984 96092993 1 16 423.96 - - 8 1 1 CCDC82|CCDS8307.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC82|CCDS8307.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 21 6 21 0 0 ./. 1 7 2 13 8 54 9 55 2 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729622346 11 108301592 C CA 898 PASS C11orf65 CCDS8340.1 r.? - - Ins intronic I 108301592 108301602 1 81 836.482 - - 9 1 1 C11orf65|CCDS8340.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C11orf65|CCDS8340.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 8 8 12 15 25 36 25 36 12 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729623302 11 110650172 AAG A 300 PASS - - - - - Del - D 110650172 110650190 2 12 267.91 - - 8 1 - - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 3 2 3 30 54 30 54 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729623585 11 111444624 T TA 1440 PASS - - - - - Ins - I 111444624 111444634 1 168 1273.09 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 13 11 12 13 42 40 42 40 13 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729623695 11 111654641 GT G 300 PASS ALG9 CCDS41714.1 r.4712delA c.? p.? Del 3'UTR variant D 111654641 111654649 1 10 266.104 - - 7 1 1 ALG9|CCDS41714.1|r.4712delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ALG9|CCDS41714.1|r.4712delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 1 7 2 45 39 45 39 7 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729623698 11 111659473 TC T 360 PASS ALG9 CCDS41714.1 r.? - - Del intronic D 111659473 111659477 1 15 322.937 - - 3 1 1 ALG9|CCDS41714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALG9|CCDS41714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 2 6 3 49 42 49 42 6 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729624962 11 114708102 TTA T 1200 PASS - - - - - Del - D 114708102 114708106 2 112 1072.85 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 7 13 19 23 25 33 25 33 19 23 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729626508 11 118300113 AAC A 300 PASS - - - - - Del - D 118300113 118300131 2 12 267.91 - - 8 1 1 - - ./. 0 0 0 0 13 6 13 7 0 0 ./. 3 2 5 3 47 36 47 47 5 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729628358 11 122463232 AG A 300 PASS - - - - - Del - D 122463232 122463234 1 6 266.104 - - 1 1 - - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 5 0 6 0 43 31 43 31 6 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729630777 11 127908997 TA T 420 PASS - - - - - Del - D 127908997 127908999 1 20 373.148 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 4 3 5 59 40 59 40 3 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729634824 12 3072408 CG C 960 PASS TEAD4 CCDS31729.1 r.? - - Del intronic D 3072408 3072411 1 72 859.852 - - 2 1 1 TEAD4|CCDS31729.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TEAD4|CCDS31729.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 8 20 8 0 0 ./. 11 5 13 7 38 29 38 29 13 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729635234 12 4028183 ATC A 420 PASS - - - - - Del - D 4028183 4028201 2 20 376.712 - - 8 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 3 4 4 58 32 58 32 4 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729635537 12 4749359 C CA 1018 PASS AKAP3 CCDS8531.1 r.? - - Ins intronic I 4749359 4749368 1 75 956.647 - - 8 1 1 AKAP3|CCDS8531.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 AKAP3|CCDS8531.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 14 4 21 11 58 31 59 31 21 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729635961 12 5884446 CAG C 269 PASS ANO2 CCDS44807.1 r.? - - Del intronic D 5884446 5884466 2 10 269.08 - - 9 1 1 ANO2|CCDS44807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO2|CCDS44807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 1 4 3 57 41 57 41 4 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729637169 12 7990363 A AT 1318 PASS SLC2A14 CCDS8585.1 r.? - - Ins intronic I 7990363 7990371 1 150 1214.29 - - 7 1 1 SLC2A14|CCDS8585.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC2A14|CCDS8585.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 9 14 13 20 51 56 51 56 13 20 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729638482 12 10183799 GATGAGGGAAGATGC G 464 PASS CLEC9A CCDS8611.1 r.? - - Del intronic D 10183799 10183815 14 80 860.454 - - 1 1 1 CLEC9A|CCDS8611.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CLEC9A|CCDS8611.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 9 7 9 10 34 33 34 33 9 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729639294 12 11630305 G GCAAGTC 406 PASS - - - - - Ins - I 11630305 11630311 6 60 702.851 - - 0 1 1 - - ./. 0 0 0 0 6 12 6 13 0 0 ./. 9 5 0 0 44 29 45 29 9 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729640920 12 14760424 A AT 360 PASS - - - - - Ins - I 14760424 14760434 1 15 318.079 - - 9 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 4 2 4 2 40 55 40 56 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729642906 12 19624054 G GT 300 PASS AEBP2 CCDS44842.1 r.? - - Ins intronic I 19624054 19624064 1 12 265.468 - - 9 1 1 AEBP2|CCDS44842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AEBP2|CCDS44842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 3 2 3 2 31 50 31 50 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729644534 12 22946897 AAT A 360 PASS - - - - - Del - D 22946897 22946912 2 16 322.896 - - 7 1 - - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 3 5 3 53 42 53 42 5 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729647512 12 29233669 T TA 360 PASS - - - - - Ins - I 29233669 29233679 1 16 319.284 - - 9 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 3 3 3 4 40 48 40 49 3 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729650167 12 34376932 TCTTCA TG 524 PASS - - - - - Complex - DI 34376933 34376937 5 35 0 - - 0 1 1 - - ./. 0 0 0 0 11 3 11 3 0 0 ./. 6 4 0 0 30 33 30 33 6 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729653099 12 44269661 G GT 300 PASS TMEM117 CCDS8745.1 r.? - - Ins intronic I 44269661 44269671 1 10 265.468 - - 9 1 1 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 1 4 1 58 37 58 37 4 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729655436 12 50050151 AAC A 300 PASS FMNL3 CCDS44874.1 r.? - - Del intronic D 50050151 50050168 2 10 269.08 - - 8 1 1 FMNL3|CCDS44874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FMNL3|CCDS44874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 1 4 2 5 37 48 37 48 2 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729660857 12 61061470 G GT 300 PASS - - - - - Ins - I 61061470 61061480 1 6 266.07 - - 9 1 1 - - ./. 0 0 0 0 13 24 13 24 0 0 ./. 0 5 0 5 35 52 35 52 0 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729664055 12 68755259 GAC G 300 PASS - - - - - Del - D 68755259 68755273 2 12 267.876 - - 6 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 2 4 52 51 52 51 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729666630 12 74529251 GTC G 420 PASS - - - - - Del - D 74529251 74529271 2 20 376.712 - - 9 1 - - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 4 3 6 5 68 57 68 57 6 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729667257 12 76114823 AC A 1920 PASS - - - - - Del - D 76114823 76114825 1 273 1720.91 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 20 12 23 19 60 41 60 41 23 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729668858 12 80238972 A AT 689 PASS PPP1R12A CCDS44947.1 r.? - - Ins intronic I 80238972 80238980 1 48 638.567 - - 7 1 1 PPP1R12A|CCDS44947.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPP1R12A|CCDS44947.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 7 5 9 9 39 44 39 45 9 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729677769 12 101477159 AC A 780 PASS ANO4 CCDS31884.1 r.? - - Del intronic D 101477159 101477162 1 44 699.608 - - 2 1 1 ANO4|CCDS31884.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO4|CCDS31884.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 20 23 20 0 0 ./. 10 3 17 6 44 40 44 40 17 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729678449 12 102914205 G GGT 360 PASS - - - - - Ins - I 102914205 102914206 2 7 313.865 - - 0 1 1 - - ./. 0 0 0 0 26 14 26 15 0 0 ./. 0 6 0 1 31 32 31 33 0 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729679578 12 105492075 CCTTT C 300 PASS - - - - - Del - D 105492075 105492089 4 12 269.08 - - 3 1 - - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 2 10 5 45 35 45 35 10 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729679871 12 106151347 CCTATTTGGATGTGTGAGATCTGGTGTTTTAAAACATCAGTTTCATTATT CACAA 493 PASS - - - - - Complex - DI 106151348 106151396 49 90 0 - - 0 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 8 9 0 0 23 30 30 34 8 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729680400 12 107565344 CAG C 300 PASS - - - - - Del - D 107565344 107565364 2 12 269.08 - - 9 1 - - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 2 6 30 32 30 32 2 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729681340 12 109648222 GTATATATGTATATACACGCACATACATGTGTA G 569 PASS ACACB CCDS31898.1 r.? - - Del intronic D 109648222 109648260 32 20 538.16 - - 1 1 - ACACB|CCDS31898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACACB|CCDS31898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 9 1 0 0 44 46 44 46 9 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729682423 12 111687891 C CA 300 PASS CUX2 CCDS41837.1 r.? - - Ins intronic I 111687891 111687901 1 10 266.07 - - 9 1 1 CUX2|CCDS41837.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CUX2|CCDS41837.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 12 16 0 0 ./. 4 1 5 2 43 54 44 54 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729684340 12 115258513 C CA 449 PASS - - - - - Ins - I 115258513 115258523 1 24 419.691 - - 9 1 1 - - ./. 0 0 0 0 9 13 10 13 0 0 ./. 3 5 4 8 53 48 54 49 4 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729688098 12 122156250 C CA 269 PASS TMEM120B CCDS41852.1 r.? - - Ins intronic I 122156250 122156260 1 12 255.233 - - 9 1 - TMEM120B|CCDS41852.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM120B|CCDS41852.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 11 15 0 0 ./. 2 3 2 4 50 63 50 63 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729688154 12 122239511 CAAGCT CCA 1138 PASS SETD1B ENST00000267197 r.? - - Complex upstream DI 122239512 122239516 5 112 0 - - 0 1 1 SETD1B|ENST00000267197|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 SETD1B|ENST00000267197|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 ./. 0 0 0 0 11 14 11 14 0 0 ./. 13 7 0 0 68 40 68 40 13 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729690301 12 125555280 ACCAAGTAGGTGGTAGTAGTAGCC A 377 PASS AACS CCDS9263.1 r.? - - Del intronic D 125555280 125555307 23 56 699.608 - - 1 1 1 AACS|CCDS9263.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AACS|CCDS9263.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 6 7 6 5 35 30 35 32 6 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729694043 12 133564990 T TA 360 PASS ZNF26 CCDS31939.1 r.? - - Ins intronic I 133564990 133564996 1 16 316.875 - - 5 1 1 ZNF26|CCDS31939.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF26|CCDS31939.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 3 6 6 45 58 45 58 6 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729697571 13 25958042 AT A 300 PASS ATP8A2 CCDS41873.1 r.? - - Del intronic D 25958042 25958048 1 12 270.536 - - 5 1 1 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 4 2 21 24 21 24 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729698755 13 28951333 CTT C 1169 PASS FLT1 CCDS9330.1 r.? - - Del intronic D 28951333 28951337 2 120 1079.13 - - 3 1 1 FLT1|CCDS9330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FLT1|CCDS9330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 9 11 11 14 25 31 25 31 11 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729704349 13 45009743 C CG 540 PASS TSC22D1 CCDS31966.1 r.? - - Ins intronic I 45009743 45009745 1 24 481.546 - - 1 1 1 TSC22D1|CCDS31966.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TSC22D1|CCDS31966.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 7 4 9 17 34 17 34 4 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729707187 13 54991495 CAG C 1138 PASS - - - - - Del - D 54991495 54991498 2 117 1081.54 - - 1 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 8 12 18 15 29 19 29 19 18 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729710837 13 66020118 CA C 900 PASS - - - - - Del - D 66020118 66020125 1 70 811.607 - - 6 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 9 6 13 11 23 25 23 25 13 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729711993 13 69549529 TG T 780 PASS - - - - - Del - D 69549529 69549532 1 56 700.984 - - 2 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 7 9 15 19 23 19 23 9 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729719600 13 92954727 T TA 1020 PASS GPC5 CCDS9468.1 r.? - - Ins intronic I 92954727 92954736 1 84 908.382 - - 8 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 11 6 14 8 27 19 27 19 14 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729719975 13 94099216 T TG 660 PASS GPC6 CCDS9469.1 r.? - - Ins intronic I 94099216 94099224 1 40 583.137 - - 7 1 1 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 7 4 1 1 35 30 35 31 8 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729722249 13 100393799 C CT 1080 PASS CLYBL ENST00000376360 r.? - - Ins intronic I 100393799 100393808 1 99 947.438 - - 8 1 1 CLYBL|ENST00000376360|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLYBL|ENST00000376360|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 8 10 13 12 31 30 31 30 13 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729725308 13 108993813 ATCT A 1227 PASS - - - - - Del - D 108993813 108993819 3 140 1185.54 - - 1 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 9 13 14 19 21 31 21 31 14 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729728313 14 21451241 A AG 300 PASS - - - - - Ins - I 21451241 21451242 1 12 266.377 - - 0 1 1 - - ./. 0 0 0 0 12 11 13 12 0 0 ./. 2 3 2 4 37 56 38 56 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729731815 14 28982890 C CT 1800 PASS - - - - - Ins - I 28982890 28982897 1 255 1600.07 - - 6 1 1 - - ./. 0 0 0 0 20 14 21 14 0 0 ./. 14 16 20 24 56 64 56 65 20 24 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729734957 14 35540378 A AT 300 PASS FAM177A1 CCDS41944.1 r.? - - Ins intronic I 35540378 35540388 1 10 254.938 - - 9 1 1 FAM177A1|CCDS41944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM177A1|CCDS41944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 1 5 2 66 55 67 56 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729735660 14 36893173 GT G 900 PASS - - - - - Del - D 36893173 36893176 1 70 809.969 - - 2 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 9 6 15 8 29 27 29 27 15 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729741343 14 50402256 A AT 300 PASS - - - - - Ins - I 50402256 50402266 1 12 265.173 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 4 2 56 48 57 48 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729744425 14 56764114 A AATATCTTT 812 PASS PELI2 CCDS9726.1 r.1779_1780insauaucuuu c.? p.? Ins 3'UTR variant I 56764114 56764123 8 221 1376.48 - - 1 1 1 PELI2|CCDS9726.1|r.1779_1780insauaucuuu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 PELI2|CCDS9726.1|r.1779_1780insauaucuuu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 17 23 17 23 0 0 ./. 12 16 11 18 48 51 49 51 12 18 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729745698 14 59481644 GT G 780 PASS - - - - - Del - D 59481644 59481648 1 50 689.932 - - 3 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 9 4 10 8 48 30 48 30 10 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729753541 14 76330428 G GT 300 PASS TTLL5 CCDS32124.1 r.? - - Ins intronic I 76330428 76330438 1 12 263.367 - - 9 1 1 TTLL5|CCDS32124.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTLL5|CCDS32124.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 16 4 16 0 0 ./. 3 2 3 2 34 33 34 33 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729754418 14 77903941 C CT 300 PASS VIPAR CCDS9862.1 r.? - - Ins intronic I 77903941 77903951 1 12 266.979 - - 9 1 1 VIPAR|CCDS9862.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VIPAR|CCDS9862.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 2 4 2 53 39 53 39 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729755267 14 79591223 G GT 360 PASS NRXN3 CCDS9870.1 r.? - - Ins intronic I 79591223 79591233 1 7 318.569 - - 9 1 1 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 31 11 32 12 0 0 ./. 0 6 0 6 42 51 43 52 0 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729763098 14 97837846 G GA 1140 PASS - - - - - Ins - I 97837846 97837856 1 90 1011.51 - - 9 1 1 - - ./. 0 0 0 0 9 24 9 24 0 0 ./. 14 5 18 7 50 33 50 33 18 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729766822 14 106018451 TG T 300 PASS - - - - - Del - D 106018451 106018453 1 6 262.765 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 0 15 0 45 64 45 64 15 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729771482 15 26559152 AT A 867 PASS - - - - - Del - D 26559152 26559156 1 80 863.057 - - 3 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 9 7 11 12 36 40 36 41 11 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729780631 15 45996416 TG T 300 PASS - - - - - Del - D 45996416 45996418 1 10 268.275 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 1 9 1 50 29 50 29 9 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729786725 15 59162928 GAAATAAATAATTTACAAAAATGTTAAA G 377 PASS - - - - - Del - D 59162928 59162957 27 54 701.61 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 8 5 5 33 29 33 32 5 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729789949 15 65309442 A AT 300 PASS MTFMT CCDS45280.1 r.? - - Ins intronic I 65309442 65309443 1 10 266.469 - - 0 1 1 MTFMT|CCDS45280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTFMT|CCDS45280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 1 5 1 56 27 57 27 5 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729792480 15 70616221 AAAT A 1198 PASS - - - - - Del - D 70616221 70616230 3 132 1133.74 - - 2 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 11 10 14 11 40 30 40 30 14 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729792663 15 71048525 T TGA 420 PASS UACA CCDS10235.1 r.? - - Ins intronic I 71048525 71048528 2 18 366.675 - - 1 1 1 UACA|CCDS10235.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UACA|CCDS10235.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 8 14 9 0 0 ./. 2 5 3 8 25 42 26 42 3 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729796087 15 78359733 CAA C 840 PASS TBC1D2B CCDS32301.2 r.? - - Del intronic D 78359733 78359737 2 63 755.024 - - 3 1 1 TBC1D2B|CCDS32301.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D2B|CCDS32301.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 8 6 10 8 32 22 32 22 10 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729796820 15 79681197 A AT 1320 PASS TMED3 ENST00000424155 r.? - - Ins intronic I 79681197 79681204 1 80 1174.51 - - 6 1 1 TMED3|ENST00000424155|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMED3|ENST00000424155|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 24 12 24 0 0 ./. 19 3 22 7 51 38 51 38 22 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729797293 15 80694189 CGA C 360 PASS ARNT2 CCDS32307.1 r.? - - Del upstream D 80694189 80694198 2 16 324.098 - - 4 1 1 ARNT2|CCDS32307.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ARNT2|CCDS32307.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 3 5 5 48 34 48 34 5 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729798959 15 84812890 T TA 869 PASS - - - - - Ins - I 84812890 84812892 1 66 800.611 - - 1 1 1 - - ./. 0 0 0 0 21 9 21 9 0 0 ./. 5 10 10 13 38 33 38 33 10 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729799900 15 86707647 ATTAC A 1134 PASS AGBL1 ENST00000421325 r.? - - Del intronic D 86707647 86707654 4 140 1188.36 - - 1 1 1 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 13 9 16 11 39 34 39 34 16 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729802257 15 92142750 ATAT A 716 PASS - - - - - Del - D 92142750 92142757 3 64 755.024 - - 2 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 7 7 10 8 37 31 37 31 10 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729802530 15 92866518 C CACAG 1641 PASS AC116903.2 ENST00000502597 r.? - - Ins intronic I 92866518 92866519 4 288 1649.65 - - 0 1 1 AC116903.2|ENST00000502597|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC116903.2|ENST00000502597|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 17 15 19 17 48 55 48 55 19 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729803295 15 94241923 AAAT A 1374 PASS - - - - - Del - D 94241923 94241932 3 192 1404.42 - - 2 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 11 15 13 24 36 54 36 54 13 24 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729804207 15 96464709 GCT G 360 PASS - - - - - Del - D 96464709 96464727 2 15 324.098 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 2 4 2 35 36 35 36 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729806187 15 100842024 CA C 1359 PASS ADAMTS17 CCDS10383.1 r.? - - Del intronic D 100842024 100842026 1 180 1350.41 - - 1 1 1 ADAMTS17|CCDS10383.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS17|CCDS10383.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 11 14 14 16 43 42 43 42 14 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729807499 16 878051 C CGGGCAGCCAGGCAGGGGTCTGGCCCAGTCCTAGCCGGGGGAAATGAACTCTCGGCCTCCA 261 PASS - - - - - Ins - I 878051 878087 60 30 157.04 - - 0 1 1 - - ./. 0 0 0 0 8 13 10 13 0 0 ./. 5 4 0 0 101 54 110 61 5 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729813061 16 9576131 GGT G 360 PASS - - - - - Del - D 9576131 9576147 2 16 318.425 - - 7 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 3 4 4 49 49 49 49 4 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729813356 16 10191949 G GA 420 PASS GRIN2A CCDS10539.1 r.? - - Ins intronic I 10191949 10191959 1 20 354.337 - - 9 1 1 GRIN2A|CCDS10539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRIN2A|CCDS10539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 3 4 3 5 58 73 58 73 3 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729815326 16 12844859 C CA 360 PASS CPPED1 CCDS42120.1 r.? - - Ins intronic I 12844859 12844868 1 15 314.812 - - 8 1 1 CPPED1|CCDS42120.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CPPED1|CCDS42120.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 4 2 1 0 57 48 57 48 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729816655 16 15171184 T TG 904 PASS RRN3 CCDS10559.1 r.? - - Ins intronic I 15171184 15171193 1 100 955.876 - - 8 1 1 RRN3|CCDS10559.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RRN3|CCDS10559.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 9 9 13 12 83 69 84 69 13 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729816724 16 15329991 G GGT 296 PASS - - - - - Ins - I 15329991 15329992 2 24 468.305 - - 0 1 - - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 7 0 3 80 79 80 79 2 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729818102 16 17721173 GCA G 300 PASS - - - - - Del - D 17721173 17721190 2 12 265.053 - - 8 1 - - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 3 2 49 42 49 42 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729819261 16 19587183 A AAATT 394 PASS C16orf62 CCDS32397.1 r.? - - Ins intronic I 19587183 19587185 4 63 721.919 - - 0 1 1 C16orf62|CCDS32397.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C16orf62|CCDS32397.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 8 6 0 0 52 56 52 59 8 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729820523 16 21884762 C CAAAA 435 PASS - - - - - Ins - I 21884762 21884765 4 16 772.28 - - 2 1 1 - - ./. 0 0 0 0 22 10 22 10 0 0 ./. 15 0 17 0 89 36 89 36 17 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729821633 16 23760767 CTG C 329 PASS - - - - - Del - D 23760767 23760785 2 15 323.241 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 2 4 4 52 51 52 51 4 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729823892 16 27272504 AG A 420 PASS NSMCE1 CCDS10628.2 r.? - - Del intronic D 27272504 27272506 1 8 376.613 - - 1 1 1 NSMCE1|CCDS10628.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NSMCE1|CCDS10628.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 4 15 4 0 0 ./. 7 0 12 0 92 48 92 48 12 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729824258 16 27972349 GAC G 300 PASS GSG1L CCDS45450.1 r.? - - Del intronic D 27972349 27972366 2 12 263.849 - - 8 1 - GSG1L|CCDS45450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GSG1L|CCDS45450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 16 5 16 0 0 ./. 3 2 3 3 73 41 73 41 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729827642 16 32817816 AT A 343 PASS - - - - - Del - D 32817816 32817820 1 12 593.713 - - 3 1 - - - ./. 0 0 0 0 16 56 18 56 0 0 ./. 0 11 0 14 94 239 101 239 0 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729829651 16 34479019 CTG C 300 PASS - - - - - Del - D 34479019 34479035 2 12 269.869 - - 7 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 3 3 71 43 71 43 4 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729830139 16 46399037 AT A 567 PASS - - - - - Del - D 46399037 46399040 1 48 2523.53 - - 2 1 1 - - ./. 0 0 0 0 53 49 53 51 0 0 ./. 0 47 0 1 105 144 110 209 0 48 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729832500 16 52664340 CT C 720 PASS - - - - - Del - D 52664340 52664347 1 49 647.084 - - 6 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 6 6 11 11 22 21 22 21 11 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729834227 16 57976225 A AT 1289 PASS CNGB1 CCDS42169.1 r.? - - Ins intronic I 57976225 57976226 1 128 1172.37 - - 0 1 1 CNGB1|CCDS42169.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNGB1|CCDS42169.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 15 7 23 11 37 20 37 20 23 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729836507 16 64304784 G GA 300 PASS - - - - - Ins - I 64304784 64304794 1 12 266.257 - - 9 1 1 - - ./. 0 0 0 0 14 13 15 13 0 0 ./. 2 3 2 3 21 27 21 27 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729844256 16 85839548 ACCTCC A 638 PASS COX4I1 CCDS10955.1 r.? - - Del intronic D 85839548 85839554 5 143 1185.02 - - 1 1 1 COX4I1|CCDS10955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COX4I1|CCDS10955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 10 12 12 14 21 29 21 29 12 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729845042 16 88269736 AG A 353 PASS - - - - - Del - D 88269736 88269738 1 22 593.713 - - 1 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 10 1 13 2 38 28 38 28 13 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729845116 16 88599847 GC G 1500 PASS ZFPM1 CCDS32502.1 r.1804delC c.1482delC p.A496fs*302 Del frameshift D 88599847 88599852 1 182 1345.13 - - 4 1 1 ZFPM1|CCDS32502.1|r.1804delC|c.1482delC|p.A496fs*302|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ZFPM1|CCDS32502.1|r.1804delC|c.1482delC|p.A496fs*302|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 12 8 12 8 0 0 ./. 12 13 15 17 22 26 22 26 15 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729851157 17 9275802 A AT 898 PASS STX8 CCDS32565.1 r.? - - Ins intronic I 9275802 9275811 1 65 850.938 - - 8 1 1 STX8|CCDS32565.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STX8|CCDS32565.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 9 10 0 0 ./. 12 4 15 10 49 32 49 32 15 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729853636 17 13892470 GAAAAATCA G 870 PASS - - - - - Del - D 13892470 13892479 8 220 1619.22 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 9 21 9 22 29 49 29 49 9 22 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729857443 17 21223076 GCT G 1200 PASS MAP2K3 CCDS11218.1 r.? - - Del downstream D 21223076 21223080 2 117 1074.06 - - 1 1 1 MAP2K3|CCDS11218.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MAP2K3|CCDS11218.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 39 32 39 32 0 0 ./. 12 8 16 15 102 132 102 132 16 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729860808 17 29063328 AGAGGCGCCCCTCACCTCCCGGACG A 319 PASS AC127024.1 ENST00000499895 r.? - - Del intronic D 29063328 29063370 24 12 584.079 - - 1 1 1 AC127024.1|ENST00000499895|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC127024.1|ENST00000499895|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 11 0 10 0 39 34 40 34 12 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729865365 17 37717266 C CA 360 PASS - - - - - Ins - I 37717266 37717276 1 16 319.027 - - 9 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 3 3 3 36 45 37 46 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729866155 17 39233102 AAAGGAAGAAGGGAAGGAAGGAAGAAGGGAAGG AAAGGAAGAAAGG 360 PASS - - - - - Complex - DI 39233103 39233134 32 12 0 - - 0 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 1 5 0 0 16 48 16 48 1 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729866421 17 39852784 GTTCA G 300 PASS EIF1 CCDS11403.1 r.? - - Del downstream D 39852784 39852810 4 12 269.869 - - 6 1 - EIF1|CCDS11403.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 EIF1|CCDS11403.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 3 2 34 35 34 35 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729866569 17 40050887 AC A 1380 PASS ACLY CCDS11412.1 r.? - - Del intronic D 40050887 40050892 1 150 1237.79 - - 4 1 1 ACLY|CCDS11412.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACLY|CCDS11412.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 9 14 14 20 34 45 34 45 14 20 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729869628 17 45293476 TC T 300 PASS MYL4 CCDS11510.1 r.? - - Del intronic D 45293476 45293482 1 12 266.257 - - 5 1 1 MYL4|CCDS11510.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYL4|CCDS11510.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 2 3 2 3 29 37 29 37 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729870529 17 46765511 TG T 360 PASS - - - - - Del - D 46765511 46765515 1 16 319.629 - - 3 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 6 4 30 47 30 47 6 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729873248 17 52174587 CA C 1020 PASS - - - - - Del - D 52174587 52174589 1 90 917.555 - - 1 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 9 8 12 16 31 46 31 46 12 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729876189 17 58228015 TAAAAAAAAAAAAAAAAAAAAA T 261 PASS CA4 CCDS11624.1 r.? - - Del intronic D 58228015 58228052 21 28 474.927 - - 1 1 - CA4|CCDS11624.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CA4|CCDS11624.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 3 8 3 0 0 ./. 6 3 8 4 38 16 38 18 8 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729877470 17 60454403 TAG T 420 PASS ENSG00000172421 CCDS45751.1 r.? - - Del intronic D 60454403 60454422 2 14 377.817 - - 9 1 1 ENSG00000172421|CCDS45751.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000172421|CCDS45751.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 6 1 6 1 26 42 26 42 6 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729880881 17 66695447 G GT 890 PASS - - - - - Ins - I 66695447 66695456 1 70 800.577 - - 8 1 1 - - ./. 0 0 0 0 12 8 14 8 0 0 ./. 6 9 11 14 51 48 51 48 11 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729881942 17 69088894 C CT 269 PASS - - - - - Ins - I 69088894 69088904 1 12 266.859 - - 9 1 1 - - ./. 0 0 0 0 13 13 14 13 0 0 ./. 3 2 3 2 42 43 42 43 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729884698 17 74162631 G GA 300 PASS RNF157 CCDS32740.1 r.? - - Ins intronic I 74162631 74162641 1 10 265.655 - - 9 1 1 RNF157|CCDS32740.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF157|CCDS32740.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 24 10 24 0 0 ./. 4 1 5 1 56 43 56 43 5 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729887837 17 80035996 CCG C 300 PASS FASN CCDS11801.1 r.? - - Del downstream D 80035996 80036000 2 6 258.43 - - 1 1 1 FASN|CCDS11801.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ENSG00000236696|ENST00000426190|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 0 7 0 67 32 67 32 7 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729895739 18 14481902 TAATA T 594 PASS - - - - - Del - D 14481902 14481911 4 54 702.483 - - 2 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 8 7 8 35 32 35 32 7 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729896726 18 18868221 G GA 300 PASS GREB1L CCDS45836.1 r.? - - Ins intronic I 18868221 18868231 1 12 264.767 - - 9 1 1 GREB1L|CCDS45836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GREB1L|CCDS45836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 8 21 8 0 0 ./. 3 2 3 2 47 43 48 45 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729902284 18 32022509 C CT 300 PASS - - - - - Ins - I 32022509 32022519 1 6 265.971 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 0 5 0 59 48 59 48 5 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729903582 18 35554859 CT C 720 PASS - - - - - Del - D 35554859 35554861 1 48 648.446 - - 1 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 7 5 17 10 48 32 48 32 17 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729904999 18 39205591 CTG C 300 PASS - - - - - Del - D 39205591 39205609 2 12 269.584 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 3 2 46 32 46 32 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729905012 18 39236449 TAC T 420 PASS - - - - - Del - D 39236449 39236466 2 20 378.26 - - 8 1 - - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 3 4 3 4 43 55 43 55 3 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729905103 18 39458536 CT C 360 PASS - - - - - Del - D 39458536 39458538 1 15 324.223 - - 1 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 2 5 3 56 32 56 32 5 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729905555 18 40470534 AAG A 300 PASS RIT2 CCDS11921.1 r.? - - Del intronic D 40470534 40470550 2 12 270.186 - - 7 1 1 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 4 3 61 26 61 26 4 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729915145 18 63306093 C CA 420 PASS - - - - - Ins - I 63306093 63306101 1 20 372.842 - - 7 1 1 - - ./. 0 0 0 0 23 24 23 24 0 0 ./. 4 3 5 3 41 38 41 39 5 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729916571 18 66057143 A AT 1260 PASS - - - - - Ins - I 66057143 66057152 1 132 1104.08 - - 8 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 11 10 16 14 49 48 50 49 16 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729921316 18 76753371 AG A 1200 PASS SALL3 CCDS12013.1 r.1381delG c.1381delG p.G461fs*3 Del frameshift D 76753371 76753374 1 117 1074.72 - - 2 1 1 SALL3|CCDS12013.1|r.1381delG|c.1381delG|p.G461fs*3|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SALL3|CCDS12013.1|r.1381delG|c.1381delG|p.G461fs*3|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 6 9 6 9 0 0 ./. 8 12 9 14 25 48 25 48 9 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729925720 19 6609479 TA T 360 PASS - - - - - Del - D 6609479 6609484 1 15 318.843 - - 4 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 2 7 4 45 35 45 35 7 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729927267 19 8783538 AT A 1440 PASS - - - - - Del - D 8783538 8783541 1 168 1295.84 - - 2 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 13 11 19 15 52 41 52 41 19 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729928736 19 10936350 AAG A 360 PASS DNM2 CCDS45969.1 r.? - - Del intronic D 10936350 10936370 2 15 321.251 - - 9 1 1 DNM2|CCDS45969.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNM2|CCDS45969.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 4 2 5 46 41 46 41 2 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729930235 19 13178610 AAT A 269 PASS NFIX CCDS45996.1 r.? - - Del intronic D 13178610 13178627 2 6 270.218 - - 8 1 1 NFIX|CCDS45996.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFIX|CCDS45996.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 0 6 0 54 38 54 38 6 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729930491 19 13538759 G GT 389 PASS CACNA1A CCDS45998.1 r.? - - Ins intronic I 13538759 13538769 1 20 365.662 - - 9 1 1 CACNA1A|CCDS45998.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACNA1A|CCDS45998.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 19 17 19 0 0 ./. 3 4 4 4 40 49 40 50 4 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729932074 19 15807600 TTC T 300 PASS CYP4F12 CCDS42517.1 r.? - - Del intronic D 15807600 15807615 2 12 270.218 - - 7 1 1 CYP4F12|CCDS42517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYP4F12|CCDS42517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 2 3 2 48 38 48 38 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729933000 19 17162903 T TCATGA 298 PASS HAUS8 CCDS32948.1 r.? - - Ins intronic I 17162903 17162912 5 16 305.598 - - 1 1 1 HAUS8|CCDS32948.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HAUS8|CCDS32948.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 3 4 3 60 25 60 25 4 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729936798 19 22698764 C CCT 449 PASS - - - - - Ins - I 22698764 22698765 2 16 408.266 - - 0 1 - - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 7 0 1 25 51 25 52 1 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729937552 19 23868468 A AT 1260 PASS ZNF675 CCDS32981.1 r.? - - Ins intronic I 23868468 23868476 1 130 1121.07 - - 7 1 1 ZNF675|CCDS32981.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF675|CCDS32981.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 12 9 12 9 41 41 41 41 12 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729942908 19 37356976 GGT G 360 PASS - - - - - Del - D 37356976 37356991 2 15 324.262 - - 7 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 2 4 2 75 43 75 43 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729953438 19 54605308 CT C 300 PASS OSCAR CCDS12876.1 r.? - - Del upstream D 54605308 54605318 1 6 264.197 - - 9 1 1 OSCAR|CCDS12876.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 OSCAR|ENST00000284648|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 0 5 0 1 41 51 41 51 0 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729956146 19 58969692 ACCTG A 1103 PASS ZNF324B CCDS33138.1 r.? - - Del downstream D 58969692 58969697 4 144 1171.5 - - 1 1 1 ZNF324B|CCDS33138.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ZNF324B|CCDS33138.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 6 10 6 10 0 0 ./. 11 11 18 11 52 35 52 35 18 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729958406 2 5827132 AGT A 300 PASS - - - - - Del - D 5827132 5827150 2 12 265.453 - - 8 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 2 2 2 53 44 53 44 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729958501 2 6045783 TAATTAAACC T 638 PASS - - - - - Del - D 6045783 6045797 9 80 1176.18 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 19 3 21 5 62 28 63 28 22 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729959484 2 8760531 CAG C 300 PASS - - - - - Del - D 8760531 8760547 2 12 267.861 - - 7 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 3 2 3 3 36 70 36 70 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729963288 2 16683099 AC A 960 PASS - - - - - Del - D 16683099 16683101 1 80 855.951 - - 1 1 1 - - ./. 0 0 0 0 25 16 25 16 0 0 ./. 9 7 12 12 42 39 42 39 12 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729965521 2 23293137 A AT 1020 PASS - - - - - Ins - I 23293137 23293147 1 78 892.665 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 12 5 16 7 57 19 58 20 16 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729972916 2 38445261 T TATTTTTCTTTCTTTCC 360 PASS - - - - - Ins - I 38445261 38445262 16 12 262.431 - - 0 1 1 - - ./. 0 0 0 0 11 18 12 18 0 0 ./. 1 5 0 0 53 39 55 39 1 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729977620 2 48306801 TA T 1080 PASS - - - - - Del - D 48306801 48306803 1 84 962.493 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 13 10 18 25 42 25 42 10 18 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729980584 2 55648752 C CT 960 PASS CCDC88A CCDS33203.1 r.? - - Ins upstream I 55648752 55648760 1 77 843.307 - - 7 1 1 CCDC88A|CCDS33203.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 CCDC88A|CCDS33203.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 6 17 6 17 0 0 ./. 10 6 11 11 41 39 41 39 11 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729981747 2 58680978 T TC 540 PASS - - - - - Ins - I 58680978 58680979 1 24 475.527 - - 0 1 - - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 7 2 16 10 43 44 43 46 16 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729983419 2 62130809 T TC 960 PASS COMMD1 CCDS1869.1 r.? - - Ins upstream I 62130809 62130813 1 80 829.46 - - 3 1 1 COMMD1|CCDS1869.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 COMMD1|CCDS1869.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 11 11 11 12 0 0 ./. 7 9 16 15 41 32 42 33 16 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729983941 2 63351008 G GTA 480 PASS C2orf86 CCDS42688.1 r.? - - Ins intronic I 63351008 63351023 2 21 415.934 - - 7 1 1 C2orf86|CCDS42688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C2orf86|CCDS42688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 20 0 0 ./. 6 2 10 6 53 31 54 36 10 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729984986 2 65461044 C CT 300 PASS ACTR2 CCDS1881.1 r.? - - Ins intronic I 65461044 65461054 1 12 258.83 - - 9 1 1 ACTR2|CCDS1881.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACTR2|CCDS1881.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 2 3 2 2 36 55 36 55 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729989892 2 76686177 GGT G 360 PASS - - - - - Del - D 76686177 76686196 2 12 320.229 - - 9 1 - - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 1 5 2 55 31 55 31 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729991204 2 79887640 TG T 900 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 79887640 79887642 1 72 802.379 - - 1 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 8 7 11 9 41 41 41 41 11 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729992270 2 83198775 G GA 780 PASS - - - - - Ins - I 83198775 83198782 1 56 687.407 - - 6 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 7 6 10 9 42 29 42 29 10 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729994319 2 87943196 GC G 276 PASS - - - - - Del - D 87943196 87943200 1 13 642.866 - - 3 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 12 0 14 0 35 30 35 30 14 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2729995076 2 89936262 C CA 1265 PASS - - - - - Ins - I 89936262 89936272 1 135 1156.91 - - 9 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 8 14 12 19 41 53 41 53 12 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730000427 2 103865799 A AT 1289 PASS - - - - - Ins - I 103865799 103865806 1 144 1164.14 - - 6 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 11 11 14 15 35 50 35 50 14 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730000930 2 105202751 AG A 300 PASS - - - - - Del - D 105202751 105202753 1 6 267.861 - - 1 1 - - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 0 6 0 46 25 46 25 6 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730002321 2 108611630 TTAGGCTACAAACCTGTGCAACATGTTACTGCACTGAATACTATAGGCAATTGTAA T 377 PASS SLC5A7 CCDS2074.1 r.? - - Del intronic D 108611630 108611688 55 56 696.438 - - 1 1 1 SLC5A7|CCDS2074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC5A7|CCDS2074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 6 1 0 27 31 33 37 7 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730005540 2 116866273 G GT 360 PASS - - - - - Ins - I 116866273 116866283 1 16 308.188 - - 9 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 3 3 3 42 46 43 46 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730005648 2 117125826 GT G 480 PASS - - - - - Del - D 117125826 117125835 1 24 426.771 - - 8 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 5 8 6 45 53 45 53 8 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730009232 2 125993408 G GT 300 PASS - - - - - Ins - I 125993408 125993418 1 10 264.249 - - 9 1 1 - - ./. 0 0 0 0 14 21 14 22 0 0 ./. 1 4 1 5 44 50 44 50 1 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730015935 2 140620374 AAG A 300 PASS - - - - - Del - D 140620374 140620387 2 10 266.055 - - 6 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 1 4 1 4 27 59 27 59 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730017776 2 144800846 CAT C 300 PASS GTDC1 CCDS33300.1 r.? - - Del intronic D 144800846 144800861 2 10 267.861 - - 7 1 1 GTDC1|CCDS33300.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GTDC1|CCDS33300.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 2 4 28 51 28 51 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730017869 2 145118472 TC T 300 PASS - - - - - Del - D 145118472 145118474 1 6 266.055 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 0 6 0 40 49 40 49 6 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730018300 2 146314007 AAG A 300 PASS - - - - - Del - D 146314007 146314027 2 12 267.259 - - 9 1 - - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 2 3 3 38 44 38 44 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730019981 2 150743063 C CA 1140 PASS - - - - - Ins - I 150743063 150743070 1 98 1005.83 - - 6 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 13 6 16 12 42 48 42 48 16 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730021474 2 154013998 CTTA C 747 PASS - - - - - Del - D 154013998 154014005 3 64 750.01 - - 2 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 7 7 10 12 28 39 28 39 10 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730022074 2 155617065 TTC T 329 PASS KCNJ3 CCDS2200.1 r.? - - Del intronic D 155617065 155617081 2 15 320.831 - - 7 1 - KCNJ3|CCDS2200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNJ3|CCDS2200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 2 4 2 37 51 37 51 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730024480 2 161317766 AAG A 300 PASS RBMS1 CCDS2213.1 r.? - - Del intronic D 161317766 161317785 2 12 266.055 - - 9 1 1 RBMS1|CCDS2213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBMS1|CCDS2213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 3 2 3 4 36 46 36 46 3 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730025940 2 165488844 AATTG A 1287 PASS - - - - - Del - D 165488844 165488853 4 150 1228.55 - - 2 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 14 9 18 13 40 37 40 37 18 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730029987 2 173948269 T TA 300 PASS ENSG00000091436 CCDS2251.1 r.? - - Ins intronic I 173948269 173948279 1 10 264.851 - - 9 1 1 ENSG00000091436|CCDS2251.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENSG00000091436|CCDS2251.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 14 10 0 0 ./. 4 1 4 1 63 29 63 29 4 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730031064 2 176150788 G GT 1320 PASS - - - - - Ins - I 176150788 176150797 1 128 1165.34 - - 8 1 1 - - ./. 0 0 0 0 13 22 13 23 0 0 ./. 15 7 18 8 47 39 47 39 18 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730033616 2 182715330 T TA 1320 PASS - - - - - Ins - I 182715330 182715333 1 143 1164.74 - - 2 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 10 12 14 16 50 38 50 38 14 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730033630 2 182756646 CCCT C 300 PASS SSFA2 CCDS46467.1 r.33_35delCCU c.? p.? Del 5'UTR variant D 182756646 182756670 3 10 267.861 - - 7 1 1 SSFA2|CCDS46467.1|r.33_35delCCU|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 SSFA2|CCDS46467.1|r.33_35delCCU|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 1 4 1 55 19 55 19 4 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730033851 2 183330767 TTG T 329 PASS PDE1A CCDS2285.1 r.? - - Del intronic D 183330767 183330785 2 16 308.188 - - 8 1 1 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 3 3 3 34 40 34 40 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730037417 2 191991331 A AT 300 PASS STAT4 CCDS2310.1 r.? - - Ins intronic I 191991331 191991341 1 12 261.84 - - 9 1 1 STAT4|CCDS2310.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STAT4|CCDS2310.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 23 10 23 0 0 ./. 3 2 3 2 51 46 51 47 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730038345 2 194520695 A AT 300 PASS - - - - - Ins - I 194520695 194520705 1 12 264.249 - - 9 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 3 2 6 3 39 62 39 62 6 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730040377 2 199150032 GT G 1318 PASS - - - - - Del - D 199150032 199150038 1 156 1229.75 - - 5 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 12 11 12 19 39 46 39 46 12 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730041246 2 201239028 T TA 720 PASS SPATS2L CCDS46483.1 r.? - - Ins intronic I 201239028 201239030 1 48 635.641 - - 1 1 1 SPATS2L|CCDS46483.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SPATS2L|CCDS46483.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 5 7 6 7 46 25 46 25 6 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730041663 2 202055014 TAC T 300 PASS CASP10 CCDS2340.1 r.? - - Del intronic D 202055014 202055032 2 12 264.851 - - 8 1 - CASP10|CCDS2340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CASP10|CCDS2340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 2 3 2 44 38 44 38 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730045169 2 208991052 C CT 1889 PASS CRYGC CCDS2379.1 r.? - - Ins downstream I 208991052 208991058 1 288 1681.8 - - 5 1 1 CRYGC|CCDS2379.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CRYGD|CCDS2378.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 16 16 17 16 0 0 ./. 15 17 19 19 47 46 48 46 19 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730045308 2 209136964 AT A 420 PASS PIKFYVE CCDS2382.1 r.? - - Del intronic D 209136964 209136966 1 20 368.985 - - 1 1 1 PIKFYVE|CCDS2382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIKFYVE|CCDS2382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 4 4 4 46 44 46 44 4 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730047174 2 213967974 TAG T 840 PASS IKZF2 CCDS2395.1 r.? - - Del intronic D 213967974 213967982 2 55 749.408 - - 3 1 1 IKZF2|CCDS2395.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IKZF2|CCDS2395.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 10 7 10 29 28 29 28 7 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730048510 2 216803188 C CAT 300 PASS MREG ENST00000236976 r.? - - Ins downstream I 216803188 216803203 2 12 258.228 - - 7 1 - MREG|ENST00000236976|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MREG|ENST00000236976|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 3 3 60 44 60 44 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730049183 2 218407270 AAG A 360 PASS - - - - - Del - D 218407270 218407290 2 16 321.433 - - 9 1 - - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 3 3 4 41 45 41 45 3 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730050604 2 221550681 GCA G 300 PASS - - - - - Del - D 221550681 221550699 2 10 267.259 - - 8 1 - - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 1 4 1 4 45 48 45 48 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730051232 2 222960958 G GT 1920 PASS - - - - - Ins - I 222960958 222960965 1 285 1691.43 - - 6 1 1 - - ./. 0 0 0 0 14 15 16 15 0 0 ./. 14 18 17 20 47 50 48 51 17 20 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730053871 2 228609465 A AT 1380 PASS - - - - - Ins - I 228609465 228609474 1 156 1211.69 - - 8 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 11 12 14 15 47 53 48 53 14 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730056171 2 233468976 CG C 1440 PASS EFHD1 ENST00000409613 r.? - - Del upstream D 233468976 233468978 1 168 1278.51 - - 1 1 1 EFHD1|ENST00000409613|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 EFHD1|ENST00000409613|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 10 13 10 0 0 ./. 11 13 18 24 31 63 31 63 18 24 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730058563 2 238863312 A AG 300 PASS - - - - - Ins - I 238863312 238863313 1 10 257.626 - - 0 1 - - - ./. 0 0 0 0 14 14 15 14 0 0 ./. 4 1 6 3 55 29 55 30 6 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730058709 2 239171845 C CAG 1589 PASS PER2 CCDS2528.1 r.? - - Ins intronic I 239171845 239171849 2 210 1410.93 - - 1 1 1 PER2|CCDS2528.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PER2|CCDS2528.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 13 14 16 16 34 38 34 39 16 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730064909 20 9715873 AG A 1409 PASS PAK7 CCDS13107.1 r.? - - Del intronic D 9715873 9715876 1 169 1293.44 - - 2 1 1 PAK7|CCDS13107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PAK7|CCDS13107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 12 12 16 15 42 35 42 35 16 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730066237 20 12879478 TAG T 269 PASS - - - - - Del - D 12879478 12879498 2 12 265.301 - - 9 1 - - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 3 3 46 34 46 34 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730069107 20 19399105 G GA 1320 PASS SLC24A3 CCDS13140.1 r.? - - Ins intronic I 19399105 19399113 1 108 1177.32 - - 7 1 1 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 21 5 21 0 0 ./. 5 17 6 22 17 58 17 59 6 22 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730081549 20 46961980 A AT 720 PASS - - - - - Ins - I 46961980 46961989 1 48 636.483 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 7 5 14 9 38 41 38 43 14 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730082969 20 49618660 AAG A 300 PASS KCNG1 CCDS13436.1 r.? - - Del downstream D 49618660 49618677 2 10 270.72 - - 8 1 1 KCNG1|CCDS13436.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KCNG1|CCDS13436.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 18 15 18 0 0 ./. 4 1 4 1 48 52 48 52 4 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730085018 20 53436906 GTA G 360 PASS - - - - - Del - D 53436906 53436918 2 7 324.864 - - 5 1 - - - ./. 0 0 0 0 10 1 10 1 0 0 ./. 6 0 12 0 30 0 30 0 12 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730085890 20 55367277 GC G 923 PASS - - - - - Del - D 55367277 55367280 1 108 1028.13 - - 2 1 1 - - ./. 0 0 0 0 20 11 20 11 0 0 ./. 11 8 17 10 46 39 46 39 17 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730088273 20 61823649 GACTACAGGTGCCTGCCAACA GGCAC 297 PASS YTHDF1 CCDS13511.1 r.? - - Complex downstream DI 61823650 61823669 20 40 0 - - 0 1 1 YTHDF1|CCDS13511.1|r.?|-|-|protein_coding:indel:5KB_downstream_variant|SO:0000010:SO:1000032:SO:0001633 AL096828.1|ENST00000504036|r.?|-|-|non_protein_coding:intron:indel:intron_variant|SO:0000011:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 9 3 0 0 46 44 46 44 9 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730089064 21 9459079 TA T 700 PASS - - - - - Del - D 9459079 9459084 1 115 1404.66 - - 4 1 1 - - ./. 0 0 0 0 71 61 71 63 0 0 ./. 22 4 22 5 352 283 352 283 22 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730090069 21 9915874 C CA 329 PASS ENSG00000227328 ENST00000416067 r.? - - Ins intronic I 9915874 9915879 1 49 643.027 - - 4 1 1 ENSG00000227328|ENST00000416067|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000227328|ENST00000416067|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 37 56 37 58 0 0 ./. 6 6 5 6 123 132 124 133 6 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730094308 21 16735424 G GT 329 PASS - - - - - Ins - I 16735424 16735432 1 16 321.514 - - 7 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 3 9 7 29 24 29 24 9 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730094753 21 17949761 A AATATATGTAAATTGTACAA 267 PASS - - - - - Ins - I 17949760 17949780 19 16 256.491 - - 0 1 - - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 3 0 0 31 25 31 25 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730096912 21 22274880 TA T 1020 PASS - - - - - Del - D 22274880 22274886 1 78 920.588 - - 5 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 12 5 17 9 42 37 42 37 17 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730099599 21 27721265 G GA 300 PASS - - - - - Ins - I 27721265 27721275 1 12 267.928 - - 9 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 2 3 1 3 52 39 53 40 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730107502 21 43197738 GAC G 300 PASS - - - - - Del - D 43197738 43197754 2 6 270.938 - - 7 1 - - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 0 5 0 47 25 47 25 5 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730109944 22 16867399 CCGGCTTTTTGCTCCGCCGCCGCCGCGGCTTTTTGCCCCCCACCCCCGCCGCTGCGGCTTTTTACCCGCCGCGGCTTTTTGCCCCCCCGCCGCCGTGGTTTTTTCCCCCCATCTCACCTCCGCTTTTTGCCCGCCGCGGCTTTTTGCCCCCACCCCGCCTCGGCTTTTTGCCAGCCA C 305 PASS - - - - - Del - D 16867399 16867587 176 42 585.439 - - 1 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 5 6 0 0 26 40 28 43 5 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730110154 22 16986086 C CA 715 PASS - - - - - Ins - I 16986086 16986094 1 70 805.934 - - 7 1 1 - - ./. 0 0 0 0 8 13 8 14 0 0 ./. 9 6 9 15 45 48 45 48 9 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730116425 22 29488386 TAGAC T 867 PASS KREMEN1 CCDS43000.1 r.? - - Del intronic D 29488386 29488394 4 77 869.938 - - 1 1 1 KREMEN1|CCDS43000.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KREMEN1|CCDS43000.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 6 10 8 14 28 41 28 41 8 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730117461 22 31333544 C CG 1440 PASS MORC2 CCDS33636.1 r.? - - Ins intronic I 31333544 31333552 1 169 1276.01 - - 7 1 1 MORC2|CCDS33636.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MORC2|CCDS33636.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 12 12 17 15 53 37 53 37 17 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730118067 22 32108114 TGAAGA T 1165 PASS C22orf30 CCDS13900.2 r.5896_5900delUCUUC c.5706_5710delTCTTC p.L1903fs*32 Del frameshift D 32108114 32108127 5 135 1194.36 - - 2 1 1 C22orf30|CCDS13900.2|r.5896_5900delUCUUC|c.5706_5710delTCTTC|p.L1903fs*32|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 C22orf30|CCDS13900.2|r.5896_5900delUCUUC|c.5706_5710delTCTTC|p.L1903fs*32|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 13 7 13 0 0 ./. 14 8 17 9 51 26 51 26 17 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730122783 22 41354197 C CA 1080 PASS RBX1 CCDS14009.1 r.? - - Ins intronic I 41354197 41354200 1 75 961.823 - - 2 1 1 RBX1|CCDS14009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBX1|CCDS14009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 14 4 17 10 51 45 51 45 17 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730129250 3 3279141 A AT 300 PASS - - - - - Ins - I 3279141 3279151 1 10 261.733 - - 9 1 1 - - ./. 0 0 0 0 21 20 21 20 0 0 ./. 1 4 1 4 45 47 46 47 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730135901 3 17669163 TGA T 300 PASS TBC1D5 CCDS33714.1 r.? - - Del intronic D 17669163 17669183 2 12 267.152 - - 9 1 1 TBC1D5|CCDS33714.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TBC1D5|CCDS33714.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 7 18 7 0 0 ./. 2 3 1 3 55 43 55 43 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730139230 3 26600329 C CA 1320 PASS - - - - - Ins - I 26600329 26600337 1 143 1166.32 - - 7 1 1 - - ./. 0 0 0 0 14 18 14 20 0 0 ./. 12 10 17 13 49 49 50 49 17 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730140470 3 29634517 GA G 360 PASS RBMS3 CCDS33725.1 r.? - - Del intronic D 29634517 29634519 1 12 311.792 - - 1 1 1 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 5 5 5 0 0 ./. 5 1 5 1 36 31 36 31 5 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730141520 3 32289221 GAGATT G 1256 PASS CMTM8 CCDS2652.1 r.? - - Del intronic D 32289221 32289228 5 114 1227.82 - - 1 1 1 CMTM8|CCDS2652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CMTM8|CCDS2652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 18 7 18 32 61 32 61 7 18 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730151078 3 54035377 A AT 459 PASS - - - - - Ins - I 54035377 54035384 1 20 530.691 - - 6 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 9 1 13 7 39 37 39 37 13 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730151739 3 55974336 G GA 300 PASS ERC2 CCDS46851.1 r.? - - Ins intronic I 55974336 55974346 1 12 264.744 - - 9 1 1 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 2 3 2 42 37 42 37 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730152443 3 57276459 T TTA 840 PASS APPL1 CCDS2882.1 r.? - - Ins intronic I 57276459 57276475 2 63 734.539 - - 7 1 1 APPL1|CCDS2882.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 APPL1|CCDS2882.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 18 22 18 0 0 ./. 8 6 11 10 45 61 46 61 11 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730154964 3 62657622 A AT 960 PASS CADPS CCDS46858.1 r.? - - Ins intronic I 62657622 62657631 1 56 848.504 - - 8 1 1 CADPS|CCDS46858.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CADPS|CCDS46858.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 13 3 22 7 67 38 67 38 22 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730155659 3 64614049 CCTT C 658 PASS ADAMTS9 CCDS2903.1 r.? - - Del intronic D 64614049 64614055 3 48 642.85 - - 1 1 1 ADAMTS9|CCDS2903.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS9|CCDS2903.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 7 7 14 29 38 29 38 7 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730156563 3 66723171 C CA 1320 PASS - - - - - Ins - I 66723171 66723178 1 140 1167.52 - - 6 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 13 9 17 11 44 53 44 53 17 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730156722 3 67158687 T TA 1018 PASS - - - - - Ins - I 67158687 67158696 1 99 943.806 - - 8 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 10 8 14 14 42 33 42 34 14 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730157019 3 67953572 A AT 340 PASS - - - - - Ins - I 67953572 67953581 1 18 370.882 - - 8 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 2 5 4 6 16 29 16 29 4 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730157817 3 69833402 C CT 660 PASS MITF CCDS43106.1 r.? - - Ins intronic I 69833402 69833409 1 42 581.954 - - 6 1 1 MITF|CCDS43106.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MITF|CCDS43106.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 13 0 0 ./. 5 6 7 12 30 55 30 55 7 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730160061 3 74981834 C CT 665 PASS - - - - - Ins - I 74981834 74981844 1 45 633.819 - - 9 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 8 4 11 36 51 37 51 4 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730160473 3 75708290 T TC 290 PASS - - - - - Ins - I 75708290 75708296 1 32 530.691 - - 5 1 1 - - ./. 0 0 0 0 27 26 28 27 0 0 ./. 7 3 22 7 119 74 119 74 22 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730166981 3 89412831 CGT C 300 PASS EPHA3 CCDS2922.1 r.? - - Del intronic D 89412831 89412849 2 12 268.356 - - 8 1 - EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 3 3 32 24 32 24 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730171593 3 104608040 TA T 300 PASS - - - - - Del - D 104608040 104608050 1 10 267.152 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 1 4 1 49 35 49 35 4 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730172603 3 106936535 GTTTT G 1138 PASS - - - - - Del - D 106936535 106936543 4 121 1071.02 - - 7 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 10 10 12 13 34 41 34 41 12 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730175669 3 114184860 CAT C 300 PASS ZBTB20 CCDS2981.1 r.? - - Del intronic D 114184860 114184875 2 10 268.356 - - 7 1 - ZBTB20|CCDS2981.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZBTB20|CCDS2981.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 1 4 1 4 43 53 43 53 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730176522 3 116412839 G GA 300 PASS LSAMP ENST00000474851 r.? - - Ins intronic I 116412839 116412849 1 12 265.346 - - 9 1 1 LSAMP|ENST00000474851|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LSAMP|ENST00000474851|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 2 3 2 48 52 48 52 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730178240 3 120649026 TA T 300 PASS STXBP5L CCDS43137.1 r.? - - Del intronic D 120649026 120649028 1 6 264.142 - - 1 1 1 STXBP5L|CCDS43137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STXBP5L|CCDS43137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 5 0 5 0 31 39 31 39 5 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730180590 3 125895674 C CA 1140 PASS ALDH1L1 CCDS3034.1 r.? - - Ins intronic I 125895674 125895679 1 104 1005.91 - - 4 1 1 ALDH1L1|CCDS3034.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ALDH1L1|CCDS3034.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 7 12 13 13 38 51 38 52 13 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730180698 3 126163542 TTCA T 1345 PASS ZXDC CCDS43146.1 r.? - - Del intronic D 126163542 126163550 3 180 1339.37 - - 2 1 1 ZXDC|CCDS43146.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ZXDC|CCDS43146.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 14 11 14 12 39 45 39 45 14 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730180956 3 127105971 TG T 360 PASS ENSG00000230883 ENST00000455379 r.? - - Del upstream D 127105971 127105973 1 7 308.18 - - 1 1 1 ENSG00000230883|ENST00000455379|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000230883|ENST00000455379|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 3 8 3 8 0 0 ./. 0 6 0 10 14 50 14 50 0 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730181765 3 128910966 GTA G 360 PASS - - - - - Del - D 128910966 128910980 2 16 322.027 - - 6 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 3 3 36 44 36 44 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730186805 3 141219712 A AT 960 PASS RASA2 CCDS3117.1 r.? - - Ins intronic I 141219712 141219721 1 65 846.698 - - 8 1 1 RASA2|CCDS3117.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RASA2|CCDS3117.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 4 12 10 20 31 52 33 52 10 20 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730187748 3 143048838 G GA 1260 PASS SLC9A9 CCDS33872.1 r.? - - Ins intronic I 143048838 143048847 1 112 1113.85 - - 8 1 1 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 15 6 17 11 55 43 55 43 17 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730194167 3 158306399 A AAC 300 PASS MLF1 CCDS46945.1 r.? - - Ins intronic I 158306399 158306401 2 6 262.335 - - 0 1 - MLF1|CCDS46945.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MLF1|CCDS46945.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 7 8 7 0 0 ./. 5 0 1 0 57 38 57 39 6 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730196094 3 163171411 TC T 1469 PASS - - - - - Del - D 163171411 163171413 1 176 1341.18 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 15 10 18 11 47 30 47 30 18 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730200472 3 173975510 AAT A 300 PASS NLGN1 CCDS3222.1 r.? - - Del intronic D 173975510 173975529 2 6 268.356 - - 9 1 1 NLGN1|CCDS3222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NLGN1|CCDS3222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 0 5 1 6 31 37 31 37 1 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730206858 3 187732344 ATC A 300 PASS - - - - - Del - D 187732344 187732363 2 12 266.55 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 3 2 45 45 45 45 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730207335 3 188643850 A AC 300 PASS - - - - - Ins - I 188643850 188643851 1 12 262.335 - - 0 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 2 3 43 32 43 32 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730213533 4 3424289 GGGGACAAGGTACTGGGCCCGCCTGACCCTCGTGCTGCCCTCAGGCCATGACCTCCCCGCTCCCTGGCCCCCAGCTTTGTCAGAGTCCTCAGGCTGCCCCCTCCTGCGCTCCTCATTTCAACAGCGCCTGGGGCGGAGGCCGGATT G 406 PASS RGS12 CCDS3366.1 r.3930_3937+137del145 c.3026_3033+137del145 p.? Del ess splice D 3424289 3424435 145 55 751.082 - - 1 1 1 RGS12|CCDS3366.1|r.3930_3937+137del145|c.3026_3033+137del145|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 RGS12|CCDS3366.1|r.3930_3937+137del145|c.3026_3033+137del145|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 10 0 0 31 25 35 35 4 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730215088 4 6906818 TGGGACTACAGGCGGCCGCCACCACGTTGGCTATTTTTTTGTGTG TACAGGTGCCCGCCTCAACGCCCGGCTAATTTTTTGTA 407 PASS TBC1D14 CCDS3394.2 r.? - - Complex upstream DI 6906819 6906862 44 40 0 - - 0 1 1 TBC1D14|CCDS3394.2|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 TBC1D14|CCDS3394.2|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 ./. 0 0 0 0 2 13 2 13 0 0 ./. 7 4 0 0 35 28 42 32 7 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730217823 4 14050925 A AT 1140 PASS - - - - - Ins - I 14050925 14050933 1 104 1006.68 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 13 0 0 ./. 7 12 15 14 36 46 36 46 15 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730218133 4 14768487 AAG A 360 PASS - - - - - Del - D 14768487 14768503 2 15 321.892 - - 7 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 4 2 6 2 38 41 38 41 6 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730229894 4 40826513 A AT 300 PASS APBB2 CCDS3837.1 r.? - - Ins intronic I 40826513 40826523 1 12 265.233 - - 9 1 1 APBB2|CCDS3837.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 APBB2|CCDS3837.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 16 24 17 0 0 ./. 3 2 3 2 32 67 32 67 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730231818 4 45380732 G GT 300 PASS - - - - - Ins - I 45380732 45380742 1 12 263.427 - - 9 1 1 - - ./. 0 0 0 0 21 14 21 14 0 0 ./. 2 3 2 4 47 49 48 49 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730232007 4 45913875 TA T 300 PASS - - - - - Del - D 45913875 45913877 1 6 247.172 - - 1 1 - - - ./. 0 0 0 0 5 5 5 5 0 0 ./. 5 0 21 0 35 28 35 28 21 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730232280 4 46838364 T TA 780 PASS COX7B2 CCDS3472.2 r.? - - Ins intronic I 46838364 46838371 1 56 689.607 - - 6 1 1 COX7B2|CCDS3472.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 COX7B2|CCDS3472.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 6 7 11 14 34 45 34 45 11 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730235465 4 54906714 A AT 1560 PASS CHIC2 CCDS3493.1 r.? - - Ins intronic I 54906714 54906715 1 192 1376.2 - - 0 1 1 CHIC2|CCDS3493.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHIC2|CCDS3493.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 11 15 13 17 33 53 33 54 13 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730237747 4 59669728 GC G 900 PASS - - - - - Del - D 59669728 59669734 1 70 803.527 - - 5 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 9 12 14 32 43 32 43 12 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730239387 4 63378542 C CA 600 PASS - - - - - Ins - I 63378542 63378545 1 35 530.467 - - 2 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 6 4 12 4 37 30 37 30 12 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730239894 4 64605810 CTGTT C 408 PASS - - - - - Del - D 64605810 64605818 4 54 1019.33 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 17 2 17 2 45 22 47 22 19 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730240443 4 66010759 CTT C 1020 PASS - - - - - Del - D 66010759 66010763 2 90 910.824 - - 3 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 9 8 13 13 32 38 32 38 13 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730240771 4 66725930 GTA G 300 PASS - - - - - Del - D 66725930 66725942 2 12 267.642 - - 5 1 - - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 2 3 4 9 26 36 26 36 4 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730242240 4 70303356 A AT 360 PASS - - - - - Ins - I 70303356 70303366 1 15 312.862 - - 9 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 2 5 2 48 49 48 49 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730245626 4 78179929 C CA 444 PASS - - - - - Ins - I 78179929 78179938 1 84 953.636 - - 8 1 1 - - ./. 0 0 0 0 13 21 13 22 0 0 ./. 5 13 4 16 26 45 27 45 5 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730246568 4 80556816 CA C 329 PASS - - - - - Del - D 80556816 80556818 1 7 312.862 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 0 6 0 7 58 53 58 53 0 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730249051 4 86218086 C CA 1680 PASS - - - - - Ins - I 86218086 86218094 1 224 1482.3 - - 7 1 - - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 15 13 21 17 60 42 61 42 21 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730250649 4 89870603 G GA 960 PASS FAM13A CCDS34029.1 r.? - - Ins intronic I 89870603 89870613 1 77 847.543 - - 9 1 1 FAM13A|CCDS34029.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM13A|CCDS34029.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 10 6 15 7 43 35 43 35 15 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730250983 4 90721493 T TA 1380 PASS SNCA CCDS43252.1 r.? - - Ins intronic I 90721493 90721496 1 156 1218.27 - - 2 1 1 SNCA|CCDS43252.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNCA|CCDS43252.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 11 12 11 16 42 43 42 43 11 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730256614 4 104834503 A AT 1260 PASS - - - - - Ins - I 104834503 104834511 1 120 1113.98 - - 7 1 1 - - ./. 0 0 0 0 12 25 12 25 0 0 ./. 7 14 12 18 34 71 34 73 12 18 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730256623 4 104856767 AAGAG A 960 PASS - - - - - Del - D 104856767 104856779 4 81 857.778 - - 5 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 8 8 18 13 51 34 51 34 18 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730257970 4 108696791 G GT 1529 PASS - - - - - Ins - I 108696791 108696800 1 195 1359.95 - - 8 1 1 - - ./. 0 0 0 0 23 18 23 18 0 0 ./. 12 14 13 28 54 75 55 75 13 28 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730260621 4 115145454 C CT 900 PASS - - - - - Ins - I 115145454 115145462 1 72 795.7 - - 7 1 1 - - ./. 0 0 0 0 24 14 24 14 0 0 ./. 8 7 15 12 37 47 37 47 15 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730264005 4 123246928 G GT 360 PASS KIAA1109 CCDS43267.1 r.? - - Ins intronic I 123246928 123246935 1 15 313.464 - - 6 1 1 KIAA1109|CCDS43267.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA1109|ENST00000419325|r.4956_4957insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 14 14 14 15 0 0 ./. 4 2 4 2 42 43 42 43 4 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730264163 4 123690720 C CA 749 PASS - - - - - Ins - I 123690720 123690728 1 56 687.801 - - 7 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 6 7 9 9 40 37 40 37 9 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730264250 4 123921123 TCTT TTC 302 PASS SPATA5 CCDS3730.1 r.? - - Complex intronic DI 123921124 123921126 3 45 0 - - 0 1 1 SPATA5|CCDS3730.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 SPATA5|CCDS3730.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 9 21 9 21 0 0 ./. 4 8 0 0 43 66 43 66 4 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730264348 4 124074272 CCT C 1140 PASS SPATA5 CCDS3730.1 r.? - - Del intronic D 124074272 124074277 2 110 1019.33 - - 2 1 1 SPATA5|CCDS3730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPATA5|CCDS3730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 10 9 12 10 33 43 33 43 12 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730264906 4 125374939 T TC 1260 PASS - - - - - Ins - I 125374939 125374946 1 132 1108.56 - - 6 1 1 - - ./. 0 0 0 0 6 14 7 14 0 0 ./. 10 11 12 14 28 38 29 39 12 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730273556 4 146180136 TA T 480 PASS - - - - - Del - D 146180136 146180140 1 24 428.588 - - 3 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 3 8 7 29 47 29 47 8 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730273687 4 146509983 TTTA T 300 PASS - - - - - Del - D 146509983 146510007 3 10 268.244 - - 7 1 - - - ./. 0 0 0 0 10 21 10 21 0 0 ./. 1 4 1 4 30 47 30 47 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730278284 4 157435954 T TA 300 PASS - - - - - Ins - I 157435954 157435964 1 12 264.631 - - 9 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 3 2 4 2 59 43 59 43 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730279743 4 160720704 G GT 300 PASS - - - - - Ins - I 160720704 160720714 1 10 256.203 - - 9 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 4 1 4 2 61 24 62 24 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730282543 4 166572290 A AT 360 PASS - - - - - Ins - I 166572290 166572300 1 12 318.28 - - 9 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 1 5 1 6 50 41 50 41 1 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730284728 4 171301999 G GT 269 PASS - - - - - Ins - I 171301999 171302009 1 6 261.019 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 0 5 1 61 49 62 50 5 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730285205 4 172653859 C CT 449 PASS - - - - - Ins - I 172653859 172653861 1 25 423.771 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 4 12 6 35 21 36 21 12 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730287134 4 177232533 C CA 1500 PASS - - - - - Ins - I 177232533 177232542 1 170 1321.95 - - 8 1 1 - - ./. 0 0 0 0 19 15 20 15 0 0 ./. 9 16 12 20 43 45 44 46 12 20 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730289410 4 181897197 ATAAT A 1198 PASS - - - - - Del - D 181897197 181897204 4 120 1126.62 - - 1 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 14 7 20 8 54 21 54 21 20 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730301346 5 14162914 C CT 360 PASS TRIO CCDS3883.1 r.? - - Ins intronic I 14162914 14162924 1 16 317.539 - - 9 1 1 TRIO|CCDS3883.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRIO|CCDS3883.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 3 3 40 44 40 44 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730303715 5 19340810 G GT 600 PASS - - - - - Ins - I 19340810 19340819 1 35 531.238 - - 8 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 4 6 6 8 34 35 35 35 6 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730303902 5 19770423 G GA 300 PASS CDH18 CCDS3652.1 r.? - - Ins intronic I 19770423 19770433 1 12 262.007 - - 9 1 1 CDH18|CCDS3652.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDH18|CCDS3652.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 3 2 49 41 50 41 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730306860 5 26347571 CA C 1200 PASS - - - - - Del - D 26347571 26347575 1 117 1071.51 - - 3 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 12 8 13 12 40 38 40 38 13 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730307328 5 27594347 T TA 960 PASS - - - - - Ins - I 27594347 27594354 1 77 849.981 - - 6 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 10 6 10 10 34 26 34 27 10 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730308388 5 29837108 CCTT C 656 PASS - - - - - Del - D 29837108 29837118 3 54 698.436 - - 3 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 8 5 5 6 45 22 45 22 9 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730309739 5 32455990 CCT C 300 PASS - - - - - Del - D 32455990 32456009 2 12 268.629 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 3 3 38 46 38 46 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730314557 5 44066197 G GT 1320 PASS - - - - - Ins - I 44066197 44066204 1 140 1168.12 - - 6 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 9 13 10 19 27 58 27 58 10 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730314984 5 45655066 GT G 1440 PASS HCN1 CCDS3952.1 r.? - - Del intronic D 45655066 45655073 1 168 1289.42 - - 6 1 1 HCN1|CCDS3952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HCN1|CCDS3952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 13 11 19 13 40 38 40 38 19 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730315883 5 51474333 T TC 300 PASS - - - - - Ins - I 51474333 51474334 1 12 258.394 - - 0 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 3 2 4 2 36 41 36 42 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730316030 5 51925394 CCT C 276 PASS - - - - - Del - D 51925394 51925410 2 15 322.355 - - 7 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 2 4 2 4 52 33 52 33 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730319252 5 58819783 CCTGAAGCCTCCCCAGTCATGTGGAA C 725 PASS PDE4D CCDS47213.1 r.? - - Del intronic D 58819783 58819812 25 180 1340.14 - - 1 1 1 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 11 14 8 10 39 28 42 32 11 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730320084 5 61184533 T TTTGCA 840 PASS - - - - - Ins - I 61184533 61184539 5 55 708.814 - - 1 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 4 10 7 13 55 32 56 32 7 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730320282 5 61687389 ATACAT A 1221 PASS DIMT1L CCDS3981.1 r.? - - Del intronic D 61687389 61687397 5 182 1341.94 - - 1 1 1 DIMT1L|CCDS3981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIMT1L|CCDS3981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 13 12 20 17 41 47 41 47 20 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730320307 5 61728935 CTCT C 1345 PASS IPO11 CCDS34167.1 r.? - - Del intronic D 61728935 61728944 3 176 1338.33 - - 2 1 1 IPO11|CCDS34167.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IPO11|CCDS34167.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 15 10 21 14 47 39 47 39 21 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730322645 5 67445138 TTC T 300 PASS - - - - - Del - D 67445138 67445158 2 12 267.425 - - 9 1 - - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 3 3 41 65 41 65 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730328892 5 81484868 A AT 329 PASS ATG10 CCDS4057.1 r.? - - Ins intronic I 81484868 81484876 1 15 318.743 - - 7 1 1 ATG10|CCDS4057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATG10|CCDS4057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 2 4 5 5 36 44 37 44 5 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730332793 5 91506360 T TA 1589 PASS - - - - - Ins - I 91506360 91506366 1 180 1434.34 - - 5 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 8 19 12 25 50 59 50 60 12 25 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730332903 5 91848449 CA C 877 PASS - - - - - Del - D 91848449 91848456 1 52 805.888 - - 6 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 12 3 15 4 68 22 68 22 15 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730333313 5 93248336 C CA 960 PASS MIR2277 CCDS4069.1 r.? - - Ins intronic I 93248336 93248345 1 80 848.777 - - 8 1 1 MIR2277|CCDS4069.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MIR2277|CCDS4069.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 17 9 17 0 0 ./. 7 9 9 16 45 66 45 66 9 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730333988 5 95040339 A AAAAT 449 PASS - - - - - Ins - I 95040339 95040361 4 25 408.133 - - 5 1 - - - ./. 0 0 0 0 23 15 23 15 0 0 ./. 4 4 5 5 41 49 41 49 5 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730335384 5 98560768 GT G 300 PASS - - - - - Del - D 98560768 98560770 1 6 268.629 - - 1 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 5 0 12 0 36 12 36 12 12 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730335981 5 99914970 AT A 1260 PASS FAM174A CCDS4090.1 r.? - - Del intronic D 99914970 99914973 1 126 1128.24 - - 2 1 1 FAM174A|CCDS4090.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM174A|CCDS4090.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 13 8 14 18 48 58 48 58 14 18 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730335996 5 99937001 C CA 1200 PASS - - - - - Ins - I 99937001 99937009 1 85 1053.45 - - 7 1 1 - - ./. 0 0 0 0 9 20 9 21 0 0 ./. 16 4 23 6 62 28 62 28 23 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730336260 5 100776680 CATT C 1678 PASS - - - - - Del - D 100776680 100776686 3 228 1556.85 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 11 18 15 22 36 59 36 59 15 22 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730346978 5 126838523 T TA 1560 PASS - - - - - Ins - I 126838523 126838530 1 196 1380.01 - - 6 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 13 13 19 20 65 52 65 52 19 20 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730347370 5 127982493 TAC T 269 PASS FBN2 ENST00000508053 r.? - - Del intronic D 127982493 127982513 2 12 265.017 - - 9 1 - FBN2|ENST00000508053|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FBN2|ENST00000508053|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 2 3 2 3 48 47 48 47 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730350187 5 135080500 GCAGGCAGATCA G 522 PASS - - - - - Del - D 135080500 135080513 11 75 960.443 - - 1 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 14 4 15 7 48 25 48 25 15 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730357219 5 152264119 C CA 1140 PASS - - - - - Ins - I 152264119 152264128 1 110 1008.15 - - 8 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 9 10 13 14 38 46 38 46 13 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730358138 5 154457458 AAG A 269 PASS - - - - - Del - D 154457458 154457476 2 12 267.425 - - 8 1 - - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 3 5 37 54 37 54 3 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730361928 5 163240154 A AT 329 PASS - - - - - Ins - I 163240154 163240164 1 12 318.743 - - 9 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 1 5 1 60 26 63 26 5 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730363497 5 166981867 GCTC G 300 PASS - - - - - Del - D 166981867 166981893 3 6 268.027 - - 8 1 - - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 0 5 0 48 47 48 47 5 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730366490 5 173842212 G GA 300 PASS - - - - - Ins - I 173842212 173842222 1 10 255.384 - - 9 1 1 - - ./. 0 0 0 0 14 18 14 19 0 0 ./. 1 4 5 4 42 53 42 53 5 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730369008 5 178741069 GT G 420 PASS ADAMTS2 CCDS4444.1 r.? - - Del intronic D 178741069 178741072 1 8 374.275 - - 2 1 1 ADAMTS2|CCDS4444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS2|CCDS4444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 7 0 9 0 56 63 56 63 9 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730369635 5 179743396 CA C 1740 PASS GFPT2 CCDS43411.1 r.1336delU c.1217delT p.L406fs*82 Del frameshift D 179743396 179743398 1 228 1556.24 - - 1 1 1 GFPT2|CCDS43411.1|r.1336delU|c.1217delT|p.L406fs*82|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 GFPT2|CCDS43411.1|r.1336delU|c.1217delT|p.L406fs*82|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 17 15 17 16 0 0 ./. 11 18 12 23 37 47 37 49 12 23 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730371722 6 3569809 TAC T 300 PASS - - - - - Del - D 3569809 3569829 2 10 267.383 - - 9 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 1 4 1 4 54 36 54 36 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730374616 6 9711224 A AT 1049 PASS OFCC1 ENST00000460363 r.? - - Ins intronic I 9711224 9711229 1 91 956.076 - - 4 1 1 OFCC1|ENST00000460363|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OFCC1|ENST00000460363|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 14 22 14 0 0 ./. 12 6 14 10 42 29 43 29 14 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730381123 6 22404198 A AC 300 PASS - - - - - Ins - I 22404198 22404199 1 10 262.566 - - 0 1 - - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 1 9 5 66 39 66 39 9 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730381944 6 24097215 TCAAAGGAGGGACACAGAAGAGG T 551 PASS - - - - - Del - D 24097215 24097241 22 110 1019.43 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 9 10 5 8 25 28 29 30 9 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730384261 6 29237582 TG T 1200 PASS OR12D3 ENST00000396806 r.? - - Del intronic D 29237582 29237584 1 117 1071.94 - - 1 1 1 OR12D3|ENST00000396806|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OR12D3|ENST00000396806|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 8 18 8 0 0 ./. 8 12 17 14 44 48 44 48 17 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730384323 6 29478152 CAG C 300 PASS - - - - - Del - D 29478152 29478167 2 12 267.985 - - 7 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 2 3 56 23 56 23 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730385094 6 30444982 C CA 840 PASS - - - - - Ins - I 30444982 30444991 1 63 741.808 - - 8 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 8 6 16 8 45 37 46 37 16 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730387095 6 32857667 TTGTC T 1552 PASS AL669918.1 ENST00000499196 r.? - - Del upstream D 32857667 32857674 4 247 1607.91 - - 1 1 1 AL669918.1|ENST00000499196|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 AL669918.1|ENST00000499196|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 13 16 13 16 0 0 ./. 18 12 24 16 57 42 57 42 24 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730391857 6 42259448 T TG 300 PASS TRERF1 CCDS4867.1 r.? - - Ins intronic I 42259448 42259449 1 12 260.76 - - 0 1 1 TRERF1|CCDS4867.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TRERF1|CCDS4867.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 2 5 2 62 53 62 55 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730393928 6 46702599 GAA G 269 PASS PLA2G7 CCDS4917.1 r.? - - Del intronic D 46702599 46702608 2 10 267.985 - - 8 1 - PLA2G7|CCDS4917.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLA2G7|CCDS4917.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 1 4 1 5 25 43 25 43 1 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730399803 6 62300030 AT A 1500 PASS - - - - - Del - D 62300030 62300039 1 180 1339.32 - - 8 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 11 14 15 18 37 44 37 44 15 18 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730400127 6 63364589 CATAG C 1134 PASS - - - - - Del - D 63364589 63364598 4 144 1175.76 - - 2 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 11 11 16 14 39 42 39 42 16 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730400478 6 64294406 ATG A 300 PASS PTP4A1 CCDS4965.1 r.? - - Del downstream D 64294406 64294424 2 10 268.587 - - 8 1 - PTP4A1|CCDS4965.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PTP4A1|CCDS4965.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 21 15 21 0 0 ./. 4 1 6 1 54 21 54 21 6 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730401039 6 66024006 CTG C 276 PASS EYS CCDS47445.1 r.? - - Del intronic D 66024006 66024022 2 10 267.383 - - 7 1 - EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 4 1 4 25 44 25 44 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730404020 6 73015956 TCA T 300 PASS RIMS1 CCDS47449.1 r.? - - Del intronic D 73015956 73015975 2 12 257.75 - - 9 1 - RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 2 3 32 33 32 33 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730404707 6 74293238 TC T 269 PASS - - - - - Del - D 74293238 74293240 1 6 257.75 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 0 7 0 57 38 57 38 7 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730405598 6 76430883 C CA 269 PASS SENP6 CCDS47454.1 r.? - - Ins downstream I 76430883 76430893 1 12 265.577 - - 9 1 1 SENP6|CCDS47454.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SENP6|CCDS47454.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 2 4 3 54 46 54 46 4 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730406147 6 77763965 T TA 821 PASS - - - - - Ins - I 77763965 77763972 1 60 743.615 - - 6 1 1 - - ./. 0 0 0 0 14 15 14 16 0 0 ./. 5 9 10 14 38 45 38 45 10 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730410174 6 88170506 TA T 900 PASS C6orf165 CCDS34498.1 r.? - - Del intronic D 88170506 88170516 1 60 805.761 - - 9 1 1 C6orf165|CCDS34498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf165|CCDS34498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 11 4 21 9 61 29 61 29 21 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730414885 6 99817179 AAT A 300 PASS COQ3 CCDS5042.1 r.? - - Del downstream D 99817179 99817194 2 12 268.587 - - 7 1 - COQ3|CCDS5042.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 COQ3|CCDS5042.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 3 4 44 32 44 32 3 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730417648 6 106209540 C CA 600 PASS - - - - - Ins - I 106209540 106209549 1 27 529.949 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 8 2 11 6 32 20 33 20 11 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730418296 6 107422405 C CA 1140 PASS BEND3 CCDS34507.1 r.? - - Ins intronic I 107422405 107422415 1 110 1006.18 - - 9 1 1 BEND3|CCDS34507.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BEND3|CCDS34507.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 10 9 15 14 52 50 52 50 15 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730421484 6 114159766 AAG A 300 PASS - - - - - Del - D 114159766 114159781 2 10 267.383 - - 7 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 1 4 1 4 34 30 34 30 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730432635 6 142178844 CATGCTCACTTGAG C 841 PASS - - - - - Del - D 142178844 142178858 13 240 1554.79 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 15 14 15 14 42 47 42 47 15 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730436801 6 152241742 TTC T 1440 PASS ESR1 CCDS5234.1 r.? - - Del intronic D 152241742 152241746 2 168 1288.62 - - 1 1 1 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 11 13 19 17 51 36 51 36 19 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730437741 6 154219410 AAG A 360 PASS - - - - - Del - D 154219410 154219427 2 16 313.273 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 3 3 5 28 36 28 36 3 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730443128 6 165957822 AATG A 1132 PASS PDE10A CCDS5289.1 r.? - - Del intronic D 165957822 165957828 3 156 1235.5 - - 1 1 1 PDE10A|CCDS5289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE10A|CCDS5289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 11 12 14 13 39 36 39 36 14 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730443778 6 167431871 ATG A 257 PASS FGFR1OP CCDS5296.1 r.? - - Del intronic D 167431871 167431887 2 12 264.975 - - 7 1 1 FGFR1OP|CCDS5296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGFR1OP|CCDS5296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 8 21 8 0 0 ./. 3 2 3 2 41 30 41 30 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730445573 7 1188467 T TG 300 PASS ZFAND2A CCDS5323.1 r.? - - Ins downstream I 1188467 1188468 1 10 259.069 - - 0 1 - ZFAND2A|CCDS5323.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ZFAND2A|CCDS5323.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 13 12 14 0 0 ./. 1 4 2 5 36 49 37 49 2 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730447438 7 5039722 AG A 300 PASS RNF216L ENST00000407429 r.? - - Del downstream D 5039722 5039724 1 6 262.08 - - 1 1 - RNF216L|ENST00000407429|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RBAK|ENST00000407184|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 5 0 7 0 31 28 31 28 7 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730450750 7 11671283 G GA 420 PASS THSD7A CCDS47543.1 r.? - - Ins intronic I 11671283 11671293 1 8 367.754 - - 9 1 1 THSD7A|CCDS47543.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 THSD7A|CCDS47543.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 19 0 0 ./. 0 7 0 7 31 61 31 62 0 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730452452 7 15285869 G GT 1320 PASS TMEM195 CCDS34604.1 r.? - - Ins intronic I 15285869 15285876 1 44 1169.04 - - 6 1 1 TMEM195|CCDS34604.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM195|CCDS34604.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 21 1 29 5 70 36 71 36 29 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730454256 7 19904940 G GTA 600 PASS - - - - - Ins - I 19904940 19904954 2 36 524.159 - - 6 1 1 - - ./. 0 0 0 0 21 33 21 33 0 0 ./. 5 5 10 11 55 42 55 42 10 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730454516 7 20667521 TCTTAA T 598 PASS ABCB5 CCDS5371.1 r.? - - Del intronic D 20667521 20667531 5 42 591.145 - - 1 1 1 ABCB5|CCDS5371.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ABCB5|CCDS5371.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 6 6 9 33 28 33 28 6 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730454756 7 20959974 T TA 989 PASS - - - - - Ins - I 20959974 20959984 1 88 901.546 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 17 0 0 ./. 7 10 9 18 31 68 31 68 9 18 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730455648 7 22935780 TA T 480 PASS - - - - - Del - D 22935780 22935788 1 24 429.923 - - 7 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 3 5 5 7 36 41 36 41 5 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730456899 7 25610912 CATT C 1558 PASS - - - - - Del - D 25610912 25610919 3 210 1450.39 - - 2 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 13 14 14 20 33 40 33 40 14 20 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730457551 7 27216146 AG A 1589 PASS HOXA11 CCDS5411.1 r.? - - Del downstream D 27216146 27216148 1 198 1450.39 - - 1 1 1 HOXA11|CCDS5411.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MIR196B|CCDS43560.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 10 17 13 33 35 56 35 56 13 33 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730459045 7 30632957 G GA 360 PASS GARS CCDS43564.1 r.? - - Ins upstream I 30632957 30632967 1 15 312.208 - - 9 1 1 GARS|CCDS43564.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 AC006978.1|ENST00000507825|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 2 4 2 4 55 64 56 64 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730459569 7 32140474 G GA 300 PASS PDE1C ENST00000396193 r.? - - Ins intronic I 32140474 32140484 1 10 265.09 - - 9 1 1 PDE1C|ENST00000396193|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE1C|ENST00000396193|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 24 12 24 0 0 ./. 1 4 1 4 45 41 46 42 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730460907 7 35071404 TA T 2040 PASS DPY19L1 CCDS43567.1 r.? - - Del intronic D 35071404 35071409 1 320 1822.36 - - 4 1 1 DPY19L1|CCDS43567.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPY19L1|CCDS43567.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 15 19 18 28 44 59 44 59 18 28 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730467091 7 49299965 C CA 1080 PASS - - - - - Ins - I 49299965 49299975 1 99 955.287 - - 9 1 1 - - ./. 0 0 0 0 23 17 25 17 0 0 ./. 8 10 11 16 48 58 50 58 11 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730468653 7 53198949 T TG 256 PASS - - - - - Ins - I 53198949 53198952 1 16 424.505 - - 2 1 1 - - ./. 0 0 0 0 31 16 32 16 0 0 ./. 7 1 10 1 93 52 95 52 10 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730468700 7 53226558 GATAC G 268 PASS - - - - - Del - D 53226558 53226566 4 35 537.404 - - 1 1 1 - - ./. 0 0 0 0 24 35 24 35 0 0 ./. 4 6 4 6 54 133 54 133 4 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730469521 7 55051074 G GT 300 PASS - - - - - Ins - I 55051074 55051084 1 12 263.886 - - 9 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 3 2 3 2 53 52 53 55 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730471862 7 61542801 CA C 1320 PASS - - - - - Del - D 61542801 61542803 1 143 1181.09 - - 1 1 1 - - ./. 0 0 0 0 36 32 36 32 0 0 ./. 10 12 14 21 83 81 83 81 14 21 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730472472 7 62327288 G GT 1380 PASS - - - - - Ins - I 62327288 62327296 1 136 1213.75 - - 7 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 16 7 23 13 69 37 69 38 23 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730474272 7 65286306 AT A 329 PASS AC008267.2 ENST00000418858 r.? - - Del intronic D 65286306 65286308 1 16 322.443 - - 1 1 1 AC008267.2|ENST00000418858|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC008267.2|ENST00000418858|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 15 24 15 0 0 ./. 3 3 3 5 52 52 52 52 3 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730477887 7 70935197 AAAC A 540 PASS WBSCR17 CCDS5540.1 r.? - - Del intronic D 70935197 70935212 3 28 476.439 - - 4 1 1 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 14 5 14 0 0 ./. 3 6 7 11 42 38 42 38 7 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730478105 7 71274817 C CT 956 PASS CALN1 CCDS47603.1 r.? - - Ins intronic I 71274817 71274826 1 96 939.031 - - 8 1 1 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 11 7 12 11 49 44 50 44 12 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730484203 7 83879612 G GA 960 PASS SEMA3A ENST00000424555 r.? - - Ins intronic I 83879612 83879622 1 81 838.775 - - 9 1 1 SEMA3A|ENST00000424555|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SEMA3A|ENST00000424555|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 8 8 12 13 41 47 41 47 12 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730484363 7 84423077 TCTACAAAAAAAAAAAAAAAAAAAA T 783 PASS - - - - - Del - D 84423077 84423102 24 168 1448.58 - - 1 1 - - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 20 7 15 7 39 21 44 21 20 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730485728 7 88112506 G GT 300 PASS - - - - - Ins - I 88112506 88112516 1 12 265.09 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 4 3 38 55 38 57 4 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730486523 7 89995542 TTTG T 360 PASS GTPBP10 CCDS5617.1 r.? - - Del intronic D 89995542 89995565 3 15 322.443 - - 7 1 - GTPBP10|CCDS5617.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GTPBP10|CCDS5617.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 8 25 8 0 0 ./. 2 4 2 4 57 46 57 50 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730487516 7 92323002 C CT 1500 PASS CDK6 CCDS5628.1 r.? - - Ins intronic I 92323002 92323007 1 180 1327.26 - - 4 1 1 CDK6|CCDS5628.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDK6|CCDS5628.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 11 14 16 14 46 36 46 36 16 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730490795 7 99888269 TCACCTGAGGCCAGGACTTTGAGATTAGCCTGGACCA TCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA 370 PASS - - - - - Complex - DI 99888270 99888305 36 27 0 - - 0 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 8 0 0 35 31 37 39 2 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730491971 7 101710834 TA T 420 PASS CUX1 CCDS5721.1 r.? - - Del intronic D 101710834 101710836 1 18 376.183 - - 1 1 1 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 5 5 5 33 45 33 45 5 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730494007 7 105828786 GCT G 420 PASS - - - - - Del - D 105828786 105828806 2 20 376.183 - - 9 1 - - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 4 3 4 5 43 55 43 55 4 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730498560 7 118090621 A AT 1020 PASS - - - - - Ins - I 118090621 118090631 1 88 894.924 - - 9 1 1 - - ./. 0 0 0 0 9 11 10 11 0 0 ./. 10 7 14 12 47 57 47 58 14 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730498753 7 118525015 T TC 300 PASS - - - - - Ins - I 118525015 118525023 1 10 265.09 - - 7 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 4 1 5 3 56 41 56 42 5 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730498997 7 119193853 GAA G 300 PASS - - - - - Del - D 119193853 119193862 2 12 268.702 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 3 3 44 47 44 47 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730499373 7 120561782 G GT 300 PASS - - - - - Ins - I 120561782 120561789 1 12 265.692 - - 6 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 3 2 8 4 70 31 72 31 8 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730499402 7 120663082 AG A 600 PASS C7orf58 CCDS34739.1 r.? - - Del intronic D 120663082 120663084 1 32 521.751 - - 1 1 1 C7orf58|CCDS34739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7orf58|CCDS34739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 7 5 14 34 44 34 44 5 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730499493 7 120896185 A AC 389 PASS C7orf58 CCDS34739.1 r.? - - Ins intronic I 120896185 120896186 1 14 358.723 - - 0 1 - C7orf58|CCDS34739.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C7orf58|CCDS34739.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 1 13 12 30 27 31 27 13 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730501652 7 126276718 G GT 360 PASS GRM8 CCDS5794.1 r.? - - Ins intronic I 126276718 126276728 1 16 316.422 - - 9 1 1 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 3 3 3 44 57 45 57 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730505280 7 133598387 TAG T 360 PASS EXOC4 CCDS5829.1 r.? - - Del intronic D 133598387 133598405 2 12 322.443 - - 8 1 1 EXOC4|CCDS5829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC4|CCDS5829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 5 1 5 31 49 31 49 1 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730505600 7 134425051 TA T 300 PASS CALD1 CCDS5834.1 r.? - - Del upstream D 134425051 134425061 1 12 268.1 - - 9 1 1 CALD1|CCDS5834.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CALD1|CCDS5834.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 3 2 3 43 52 43 52 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730506340 7 135907318 T TTG 279 PASS - - - - - Ins - I 135907318 135907320 2 56 680.564 - - 0 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 7 6 0 0 34 36 34 36 7 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730507284 7 138062036 T TA 989 PASS - - - - - Ins - I 138062036 138062037 1 90 896.73 - - 0 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 8 9 9 13 44 33 44 34 9 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730512549 7 149820343 C CA 303 PASS - - - - - Ins - I 149820343 149820353 1 20 368.958 - - 9 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 4 8 7 33 27 33 27 8 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730512925 7 150679801 AC A 1560 PASS KCNH2 CCDS5910.1 r.? - - Del upstream D 150679801 150679807 1 192 1391.23 - - 5 1 1 KCNH2|CCDS5910.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KCNH2|CCDS5910.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 22 27 22 27 0 0 ./. 11 15 17 17 38 50 38 50 17 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730518151 8 2282633 AG A 840 PASS - - - - - Del - D 2282633 2282635 1 63 751.613 - - 1 1 1 - - ./. 0 0 0 0 26 32 26 32 0 0 ./. 8 6 8 13 79 85 79 85 8 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730518411 8 2764340 C CA 840 PASS - - - - - Ins - I 2764340 2764350 1 64 729.337 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 7 7 9 14 35 50 35 50 9 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730523174 8 13447253 C CT 1289 PASS - - - - - Ins - I 13447253 13447260 1 140 1159.86 - - 6 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 13 9 20 12 56 50 56 50 20 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730525981 8 19012332 A AG 300 PASS - - - - - Ins - I 19012332 19012333 1 12 263.058 - - 0 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 3 2 4 2 36 30 37 30 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730532682 8 33561089 A AT 300 PASS - - - - - Ins - I 33561089 33561099 1 10 263.66 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 15 0 0 ./. 1 4 2 4 49 49 51 49 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730533401 8 35375636 GA G 1080 PASS UNC5D CCDS6093.2 r.? - - Del intronic D 35375636 35375646 1 96 968.682 - - 9 1 1 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 7 11 11 14 33 39 33 39 11 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730533717 8 36597690 TA T 1320 PASS - - - - - Del - D 36597690 36597698 1 135 1183.94 - - 7 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 14 8 28 12 57 42 57 42 28 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730538023 8 49113724 G GT 300 PASS - - - - - Ins - I 49113724 49113734 1 12 264.262 - - 9 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 3 2 4 51 66 52 68 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730541350 8 57963779 G GAACATAGCATAGCACATAGCAAAGAATTGAGC 291 PASS - - - - - Ins - I 57963779 57963784 32 40 378.241 - - 0 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 7 4 0 0 43 21 50 25 7 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730544216 8 66042078 A AC 300 PASS - - - - - Ins - I 66042078 66042079 1 6 260.047 - - 0 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 5 0 7 4 44 31 45 31 7 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730546672 8 71747284 CTTTG C 1645 PASS - - - - - Del - D 71747284 71747292 4 192 1611.46 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 7 23 7 26 20 59 20 59 7 26 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730547739 8 74495892 T TA 1140 PASS STAU2 CCDS6214.1 r.? - - Ins intronic I 74495892 74495901 1 98 1009.85 - - 8 1 1 STAU2|CCDS6214.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STAU2|CCDS6214.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 6 13 13 23 49 62 49 62 13 23 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730548357 8 75753351 CTTA C 660 PASS PI15 CCDS6218.1 r.? - - Del intronic D 75753351 75753357 3 42 591.37 - - 1 1 1 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 6 5 6 6 34 34 34 34 7 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730548989 8 77238123 CAG C 360 PASS - - - - - Del - D 77238123 77238143 2 15 322.894 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 2 5 4 39 48 39 48 5 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730552098 8 85299770 CAG C 1248 PASS - - - - - Del - D 85299770 85299775 2 156 1234.75 - - 2 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 11 12 15 19 44 37 44 37 15 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730559801 8 104303066 GA G 997 PASS - - - - - Del - D 104303066 104303074 1 18 912.458 - - 7 1 1 - - ./. 0 0 0 0 2 8 2 8 0 0 ./. 0 17 0 19 1 44 1 44 0 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730561774 8 109071459 C CA 269 PASS RSPO2 CCDS6307.1 r.? - - Ins intronic I 109071459 109071469 1 10 263.058 - - 9 1 1 RSPO2|CCDS6307.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RSPO2|CCDS6307.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 24 18 25 0 0 ./. 1 4 1 4 39 57 41 57 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730561807 8 109149167 C CT 1140 PASS - - - - - Ins - I 109149167 109149177 1 104 1008.05 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 7 12 9 15 37 47 37 47 9 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730564050 8 114719058 A AT 1380 PASS - - - - - Ins - I 114719058 114719066 1 156 1222.71 - - 7 1 1 - - ./. 0 0 0 0 10 6 11 6 0 0 ./. 12 11 13 15 50 39 51 39 13 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730567270 8 122576359 A AT 1169 PASS - - - - - Ins - I 122576359 122576367 1 117 1061.86 - - 7 1 1 - - ./. 0 0 0 0 18 20 18 21 0 0 ./. 8 12 10 14 38 38 39 40 10 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730569058 8 126467359 AAG A 269 PASS - - - - - Del - D 126467359 126467363 2 6 260.047 - - 1 1 - - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 5 0 6 0 37 47 37 47 7 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730569500 8 127496516 G GT 300 PASS - - - - - Ins - I 127496516 127496526 1 10 266.068 - - 9 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 4 1 4 2 60 38 60 38 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730570051 8 128804122 A AT 277 PASS PVT1 CCDS3617.1 r.? - - Ins upstream I 128804122 128804132 1 12 266.068 - - 9 1 1 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 8 11 9 11 0 0 ./. 2 3 3 5 43 38 43 38 3 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730573118 8 137362353 TAC T 300 PASS - - - - - Del - D 137362353 137362372 2 12 259.445 - - 9 1 - - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 3 4 5 36 38 36 38 4 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730575299 8 142294968 GC G 840 PASS - - - - - Del - D 142294968 142294974 1 64 745.592 - - 5 1 1 - - ./. 0 0 0 0 8 21 8 21 0 0 ./. 7 7 14 12 39 39 39 39 14 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730581381 9 10724826 T TA 1140 PASS - - - - - Ins - I 10724826 10724834 1 110 1011.63 - - 7 1 1 - - ./. 0 0 0 0 19 18 20 18 0 0 ./. 10 9 16 13 41 40 41 41 16 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730583810 9 16446293 CA C 300 PASS BNC2 CCDS6482.2 r.? - - Del intronic D 16446293 16446303 1 10 269.387 - - 9 1 1 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 12 23 12 0 0 ./. 1 4 1 4 35 58 35 58 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730586443 9 22656700 GA G 1080 PASS - - - - - Del - D 22656700 22656710 1 91 969.19 - - 9 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 6 12 13 15 47 40 47 40 13 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730589341 9 30015408 ATG A 300 PASS - - - - - Del - D 30015408 30015424 2 6 269.387 - - 7 1 1 - - ./. 0 0 0 0 21 9 21 9 0 0 ./. 0 5 0 5 31 41 31 41 0 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730596308 9 68333545 GA G 475 PASS - - - - - Del - D 68333545 68333554 1 120 1076.34 - - 8 1 1 - - ./. 0 0 0 0 16 3 16 3 0 0 ./. 11 9 12 9 32 27 32 27 12 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730599215 9 72287471 CGCG C 269 PASS APBA1 CCDS6630.1 r.? - - Del upstream D 72287471 72287489 3 12 264.57 - - 5 1 1 APBA1|CCDS6630.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 APBA1|CCDS6630.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 2 3 53 16 53 16 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730599352 9 72608654 T TA 900 PASS - - - - - Ins - I 72608654 72608663 1 70 796.119 - - 8 1 1 - - ./. 0 0 0 0 14 26 14 26 0 0 ./. 6 9 11 10 34 50 34 50 11 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730601231 9 76731499 A AT 1200 PASS - - - - - Ins - I 76731499 76731508 1 117 1062.5 - - 8 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 8 12 16 19 52 52 52 52 16 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730602857 9 80328514 AAC A 300 PASS GNAQ CCDS6658.1 r.? - - Del downstream D 80328514 80328533 2 12 269.387 - - 9 1 - GNAQ|CCDS6658.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 GNAQ|CCDS6658.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 2 4 32 48 32 48 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730603860 9 83004577 AC A 869 PASS - - - - - Del - D 83004577 83004579 1 70 806.354 - - 1 1 - - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 6 9 8 15 16 51 16 51 8 15 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730605878 9 87719347 A AT 300 PASS - - - - - Ins - I 87719347 87719357 1 12 265.774 - - 9 1 1 - - ./. 0 0 0 0 18 28 19 28 0 0 ./. 2 3 2 3 44 50 44 50 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730609052 9 94870043 AG A 300 PASS SPTLC1 CCDS6692.1 r.? - - Del intronic D 94870043 94870045 1 12 259.754 - - 1 1 1 SPTLC1|CCDS6692.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPTLC1|CCDS6692.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 2 3 2 40 45 40 45 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730612621 9 103153409 C CA 1430 PASS AL353805.1 ENST00000429562 r.? - - Ins intronic I 103153409 103153418 1 169 1278 - - 8 1 1 AL353805.1|ENST00000429562|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL353805.1|ENST00000429562|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 12 12 14 21 38 58 38 58 14 21 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730615674 9 110528056 G GAAATATCATCAAGCCAGTA 406 PASS - - - - - Ins - I 110528056 110528075 19 64 589.92 - - 0 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 7 3 3 40 59 44 63 7 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730620700 9 120981387 TG T 1140 PASS - - - - - Del - D 120981387 120981389 1 98 1022.47 - - 1 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 13 6 15 9 42 33 42 33 15 9 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730620809 9 121214559 A AT 836 PASS - - - - - Ins - I 121214559 121214566 1 56 842.169 - - 6 1 1 - - ./. 0 0 0 0 8 13 8 14 0 0 ./. 3 13 14 16 42 45 43 46 14 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730621787 9 123754080 C CA 840 PASS C5 CCDS6826.1 r.? - - Ins intronic I 123754080 123754088 1 64 745.854 - - 7 1 1 C5|CCDS6826.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C5|CCDS6826.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 7 7 10 8 36 33 36 33 10 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730622827 9 126206238 G GA 300 PASS DENND1A CCDS35133.1 r.? - - Ins intronic I 126206238 126206246 1 12 265.774 - - 7 1 1 DENND1A|CCDS35133.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DENND1A|CCDS35133.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 2 5 1 53 34 53 34 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730624900 9 130413851 CCT C 300 PASS STXBP1 CCDS6874.1 r.? - - Del intronic D 130413851 130413868 2 10 267.581 - - 8 1 1 STXBP1|CCDS6874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STXBP1|CCDS6874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 4 2 4 31 44 31 44 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730628213 9 135882374 GATGGTTGGATGGATGGATGGATGGATGGTGGATGTGTGGATGGATGAATGGATGAACAGATGGGTGGATGGATGGATGGATGGATGC G 389 PASS - - - - - Del - D 135882374 135882466 87 18 363.896 - - 1 1 - - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 5 2 0 0 41 34 46 36 5 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730630072 9 140638960 C CG 1380 PASS EHMT1 ENST00000428019 r.? - - Ins intronic I 140638960 140638965 1 154 1216.9 - - 4 1 1 EHMT1|ENST00000428019|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EHMT1|ENST00000428019|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 8 8 0 0 ./. 13 10 16 14 40 44 40 44 16 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730631506 X 5258021 TA T 1380 PASS - - - - - Del - D 5258021 5258031 1 154 1238.85 - - 9 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 13 10 15 14 58 46 58 46 15 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730633122 X 9450374 G GT 749 PASS TBL1X CCDS14133.1 r.? - - Ins intronic I 9450374 9450383 1 56 692.129 - - 8 1 1 TBL1X|CCDS14133.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TBL1X|CCDS14133.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 7 6 11 7 65 46 65 48 11 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730633565 X 10611866 TA T 306 PASS MID1 CCDS14138.1 r.? - - Del intronic D 10611866 10611873 1 45 646.067 - - 6 1 1 MID1|CCDS14138.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MID1|CCDS14138.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 8 4 9 4 21 17 22 18 10 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730634651 X 13835420 ATC A 360 PASS GPM6B CCDS35206.1 r.40_41delGA c.? p.? Del 5'UTR variant D 13835420 13835440 2 15 323.334 - - 9 1 - GPM6B|CCDS35206.1|r.40_41delGA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 GPM6B|CCDS35206.1|r.40_41delGA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 2 5 3 59 38 59 38 5 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730636605 X 18770481 T TTG 720 PASS PPEF1 CCDS14188.1 r.? - - Ins intronic I 18770481 18770501 2 48 631.617 - - 9 1 - PPEF1|CCDS14188.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPEF1|CCDS14188.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 7 9 10 40 49 41 49 9 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730636870 X 19431806 GT G 269 PASS MAP3K15 CCDS35212.1 r.? - - Del intronic D 19431806 19431808 1 6 268.843 - - 1 1 1 MAP3K15|CCDS35212.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAP3K15|CCDS35212.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 5 0 9 1 23 18 23 18 9 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730637741 X 22405137 GT G 1020 PASS - - - - - Del - D 22405137 22405146 1 78 916.114 - - 8 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 12 5 16 12 49 45 49 45 16 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730638673 X 24395447 TAC T 300 PASS - - - - - Del - D 24395447 24395466 2 10 268.843 - - 9 1 - - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 1 4 1 47 34 47 34 4 1 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730639848 X 27768908 C CT 360 PASS - - - - - Ins - I 27768908 27768918 1 15 319.12 - - 9 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 2 4 2 39 41 39 41 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730641039 X 30871637 C CT 780 PASS TAB3 CCDS14226.1 r.? - - Ins intronic I 30871637 30871644 1 54 692.731 - - 6 1 1 TAB3|CCDS14226.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TAB3|CCDS14226.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 15 11 15 0 0 ./. 5 8 8 11 31 40 31 40 8 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730641610 X 32199656 G GT 1020 PASS DMD CCDS14233.1 r.? - - Ins intronic I 32199656 32199664 1 90 905.879 - - 7 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 23 15 24 0 0 ./. 8 9 11 10 46 32 46 32 11 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730642569 X 34769168 G GT 300 PASS - - - - - Ins - I 34769168 34769178 1 12 266.435 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 2 3 56 34 56 34 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730642951 X 36067281 G GT 720 PASS CXorf59 CCDS14238.1 r.? - - Ins intronic I 36067281 36067290 1 45 626.199 - - 8 1 1 CXorf59|CCDS14238.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CXorf59|CCDS14238.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 24 12 25 0 0 ./. 4 8 4 11 32 35 32 35 4 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730643176 X 37335468 T TA 1620 PASS ENSG00000250349 ENST00000465127 r.? - - Ins intronic I 37335468 37335473 1 210 1438.75 - - 4 1 1 ENSG00000250349|ENST00000465127|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000250349|ENST00000465127|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 19 21 19 0 0 ./. 14 13 15 19 37 61 37 61 15 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730643553 X 38646867 G GA 300 PASS - - - - - Ins - I 38646867 38646877 1 10 261.619 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 1 4 1 6 42 60 42 60 1 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730645029 X 42243580 C CA 900 PASS - - - - - Ins - I 42243580 42243589 1 66 799.305 - - 8 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 10 8 17 36 42 36 42 8 17 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730646504 X 46131543 C CA 360 PASS - - - - - Ins - I 46131543 46131553 1 7 318.518 - - 9 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 0 6 16 13 59 52 59 53 16 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730649641 X 54429057 A AT 300 PASS - - - - - Ins - I 54429057 54429067 1 10 266.435 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 1 4 2 49 43 52 43 4 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730651217 X 63633163 CGT C 300 PASS - - - - - Del - D 63633163 63633178 2 12 269.445 - - 7 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 2 3 2 37 45 37 45 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730653303 X 70127270 T TC 300 PASS TEX11 CCDS35323.1 r.? - - Ins intronic I 70127270 70127271 1 12 266.435 - - 0 1 1 TEX11|CCDS35323.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TEX11|CCDS35323.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 4 5 36 51 38 51 4 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730656272 X 78236714 GAGTAT G 1045 PASS - - - - - Del - D 78236714 78236721 5 120 1077.78 - - 1 1 1 - - ./. 0 0 0 0 11 3 11 3 0 0 ./. 9 11 12 16 52 39 52 39 12 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730656464 X 78737754 TC T 1140 PASS - - - - - Del - D 78737754 78737757 1 110 1019.68 - - 2 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 10 9 12 16 41 41 41 41 12 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730657628 X 82492669 ATC A 1560 PASS - - - - - Del - D 82492669 82492673 2 195 1397.5 - - 1 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 14 12 21 14 42 44 42 44 21 14 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730657658 X 82698651 G GT 300 PASS - - - - - Ins - I 82698651 82698660 1 10 265.231 - - 8 1 1 - - ./. 0 0 0 0 6 13 6 14 0 0 ./. 1 4 1 4 45 43 45 43 1 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730658598 X 85790713 G GA 300 PASS DACH2 CCDS48140.1 r.? - - Ins intronic I 85790713 85790723 1 6 265.231 - - 9 1 1 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 0 5 1 5 51 36 51 37 1 6 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730661452 X 93856191 GAC G 300 PASS - - - - - Del - D 93856191 93856208 2 12 268.843 - - 8 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 2 3 2 57 30 57 30 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730661623 X 94317955 CA C 1080 PASS MIR548M ENST00000408260 r.? - - Del downstream D 94317955 94317963 1 99 968.799 - - 7 1 1 MIR548M|ENST00000408260|r.?|-|-|non_protein_coding:deletion:500B_downstream_variant|SO:0000011:SO:0000159:SO:0001634 MIR548M|ENST00000408260|r.?|-|-|non_protein_coding:deletion:500B_downstream_variant|SO:0000011:SO:0000159:SO:0001634 ./. 0 0 0 0 19 17 19 17 0 0 ./. 10 8 15 10 57 36 57 36 15 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730661630 X 94338282 CT C 300 PASS - - - - - Del - D 94338282 94338284 1 6 266.435 - - 1 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 0 5 0 7 37 52 37 52 0 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730661932 X 95389631 TA T 360 PASS - - - - - Del - D 95389631 95389641 1 16 323.334 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 3 3 3 44 43 44 43 3 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730662146 X 95962692 G GA 300 PASS DIAPH2 CCDS14467.1 r.? - - Ins intronic I 95962692 95962702 1 6 260.414 - - 9 1 1 DIAPH2|CCDS14467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DIAPH2|CCDS14467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 0 5 0 4 33 51 34 51 0 5 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730662961 X 98226771 CT C 840 PASS - - - - - Del - D 98226771 98226775 1 60 747.824 - - 3 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 9 8 13 24 51 24 51 8 13 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730663019 X 98464329 T TC 300 PASS - - - - - Ins - I 98464329 98464338 1 12 264.629 - - 8 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 3 2 4 49 57 49 57 2 4 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730664324 X 102031110 G GT 300 PASS - - - - - Ins - I 102031110 102031120 1 12 266.435 - - 9 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 3 2 3 35 50 36 50 2 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730666252 X 108428892 CT C 300 PASS - - - - - Del - D 108428892 108428899 1 6 269.445 - - 6 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 0 5 1 8 51 45 51 45 1 8 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730666947 X 110642441 CAT C 300 PASS DCX CCDS14556.1 r.? - - Del intronic D 110642441 110642457 2 12 269.445 - - 7 1 1 DCX|CCDS14556.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCX|CCDS14556.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 2 3 2 45 44 45 44 3 2 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730667587 X 112628169 G GA 300 PASS - - - - - Ins - I 112628169 112628179 1 6 266.435 - - 9 1 1 - - ./. 0 0 0 0 17 21 18 21 0 0 ./. 5 0 5 0 44 37 44 38 5 0 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730669559 X 117993586 AAACAAATAAACAAACAAAAGA AATAAACAAACAAAAGAC 319 PASS - - - - - Complex - DI 117993587 117993607 21 36 0 - - 0 1 - - - ./. 0 0 0 0 15 14 15 15 0 0 ./. 8 3 0 0 47 31 47 31 8 3 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730669560 X 117993608 C CA 329 PASS - - - - - Ins - I 117993608 117993618 1 15 316.11 - - 9 1 1 - - ./. 0 0 0 0 18 11 19 12 0 0 ./. 4 2 15 10 45 44 45 45 15 10 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730671809 X 123087024 CATTAAAAAAAAA C 520 PASS - - - - - Del - D 123087024 123087053 12 121 1076.58 - - 2 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 10 10 11 12 48 49 48 49 11 12 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730672003 X 123377992 G GA 1469 PASS - - - - - Ins - I 123377992 123378001 1 182 1326.76 - - 8 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 12 13 16 19 49 53 49 53 16 19 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730672040 X 123460480 A AT 1740 PASS - - - - - Ins - I 123460480 123460487 1 228 1539.3 - - 6 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 11 18 14 25 49 73 49 73 14 25 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730673118 X 126476630 GAC G 300 PASS - - - - - Del - D 126476630 126476649 2 10 264.629 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 1 4 2 6 39 57 39 57 2 7 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730674833 X 131783247 CA C 1440 PASS HS6ST2 CCDS48169.1 r.? - - Del intronic D 131783247 131783251 1 160 1289.12 - - 3 1 1 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 9 15 14 18 38 46 38 46 14 18 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730675248 X 132853219 CACA C 1540 PASS GPC3 CCDS14638.1 r.? - - Del intronic D 132853219 132853224 3 238 1562.18 - - 1 1 1 GPC3|CCDS14638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC3|CCDS14638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 16 13 19 16 41 46 41 46 19 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730676514 X 136265839 C CT 1409 PASS - - - - - Ins - I 136265839 136265846 1 168 1272.87 - - 6 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 11 13 16 16 48 52 49 53 16 16 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730678216 X 141101181 CA C 1198 PASS - - - - - Del - D 141101181 141101185 1 120 1130.47 - - 3 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 14 7 18 11 42 42 42 42 18 11 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730678720 X 142607403 T TA 1200 PASS SPANXN3 CCDS35418.1 r.? - - Ins upstream I 142607403 142607410 1 117 1064.54 - - 6 1 - SPANXN3|CCDS35418.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SPANXN3|CCDS35418.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 14 16 14 16 0 0 ./. 8 12 13 18 40 48 41 52 13 18 1 1 1 1 1 1 1 1 2662806 PD11353a PD11353b 2730680864 X 148495320 C CA 300 PASS - - - - - Ins - I 148495320 148495330 1 12 265.833 - - 9 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 3 3 43 44 44 44 3 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673644878 1 10837075 GGGGAA GTTC 778 PASS CASZ1 CCDS41246.1 r.? - - Complex intronic DI 10837076 10837080 5 63 0 - - 0 1 1 CASZ1|CCDS41246.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 CASZ1|CCDS41246.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 8 6 0 0 38 20 38 20 8 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673646189 1 15496854 C CCT 269 PASS TMEM51 CCDS154.1 r.? - - Ins intronic I 15496854 15496855 2 6 259.245 - - 0 1 1 TMEM51|CCDS154.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TMEM51|CCDS154.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 0 1 0 36 11 37 12 6 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673647676 1 19885330 T TA 900 PASS - - - - - Ins - I 19885330 19885337 1 60 795.796 - - 6 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 11 4 13 6 43 19 44 19 13 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673650905 1 30765307 CGATGA C 834 PASS - - - - - Del - D 30765307 30765316 5 78 910.331 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 12 7 15 8 25 8 25 7 15 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673652060 1 34967814 T TC 329 PASS - - - - - Ins - I 34967814 34967821 1 15 306.879 - - 6 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 4 2 7 3 24 12 24 12 7 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673655027 1 46024382 TTTCA TAG 807 PASS AKR1A1 CCDS523.1 r.? - - Complex intronic DI 46024383 46024386 4 70 0 - - 0 1 1 AKR1A1|CCDS523.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 AKR1A1|CCDS523.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 8 3 8 3 0 0 ./. 9 6 0 0 25 23 25 23 9 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673661147 1 70244704 T TATATATATATATACACACACACTCATATATATACACATATATACACACACACAAAC 300 PASS LRRC7 CCDS645.1 r.? - - Ins intronic I 70244704 70244716 56 10 99.6989 - - 0 1 - LRRC7|CCDS645.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRC7|CCDS645.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 1 4 0 0 14 21 14 21 1 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673662865 1 77493820 CA C 720 PASS ST6GALNAC5 CCDS673.1 r.? - - Del intronic D 77493820 77493824 1 48 643.862 - - 3 1 1 ST6GALNAC5|CCDS673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST6GALNAC5|CCDS673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 7 5 11 8 16 17 16 17 11 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673666232 1 90482570 CT C 306 PASS ZNF326 CCDS727.1 r.? - - Del intronic D 90482570 90482573 1 12 321.931 - - 2 1 1 ZNF326|CCDS727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF326|CCDS727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 5 2 7 16 18 16 18 2 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673668650 1 99820122 G GA 251 PASS - - - - - Ins - I 99820122 99820132 1 10 265.265 - - 9 1 1 - - ./. 0 0 0 0 16 6 16 6 0 0 ./. 1 4 3 4 18 21 18 21 3 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673670780 1 107488120 TCATGATCA T 493 PASS - - - - - Del - D 107488120 107488131 8 88 912.137 - - 1 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 7 10 7 9 12 19 12 20 7 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673682520 1 166303661 T TC 300 PASS - - - - - Ins - I 166303661 166303662 1 6 264.663 - - 0 1 - - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 0 5 2 5 20 24 20 24 2 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673683096 1 168606129 CT C 480 PASS - - - - - Del - D 168606129 168606132 1 25 429.241 - - 2 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 4 4 6 9 12 19 12 19 6 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673690489 1 197268186 GA G 660 PASS CRB1 CCDS1390.1 r.? - - Del intronic D 197268186 197268195 1 40 590.207 - - 8 1 1 CRB1|CCDS1390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRB1|CCDS1390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 7 7 7 19 20 19 20 7 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673693315 1 207084420 CCTA C 776 PASS FAIM3 CCDS1473.1 r.? - - Del intronic D 207084420 207084427 3 70 804.827 - - 2 1 1 FAIM3|CCDS1473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAIM3|CCDS1473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 9 20 9 0 0 ./. 9 6 9 10 10 11 10 11 9 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673696993 1 221268087 C CA 480 PASS - - - - - Ins - I 221268087 221268095 1 24 424.425 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 5 4 6 26 18 26 18 4 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673715133 10 28482672 C CA 689 PASS MPP7 CCDS7158.1 r.? - - Ins intronic I 28482672 28482679 1 45 637.677 - - 6 1 1 MPP7|CCDS7158.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MPP7|CCDS7158.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 8 6 12 16 33 16 34 6 12 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673717876 10 36637849 GT G 360 PASS - - - - - Del - D 36637849 36637858 1 15 323.053 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 12 0 0 ./. 2 4 5 6 20 18 20 24 5 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673722197 10 52141038 AAAG A 300 PASS SGMS1 CCDS7240.1 r.? - - Del intronic D 52141038 52141053 3 12 269.211 - - 4 1 - SGMS1|CCDS7240.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SGMS1|CCDS7240.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 2 4 2 16 18 16 18 4 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673724766 10 60112139 C CT 720 PASS UBE2D1 CCDS7252.1 r.? - - Ins intronic I 60112139 60112143 1 49 638.279 - - 3 1 1 UBE2D1|CCDS7252.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UBE2D1|CCDS7252.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 6 6 7 16 16 16 17 6 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673726686 10 66513454 CT C 300 PASS - - - - - Del - D 66513454 66513462 1 10 269.211 - - 7 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 1 4 1 9 10 26 10 26 1 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673727360 10 68363480 G GA 569 PASS CTNNA3 CCDS7269.1 r.? - - Ins intronic I 68363480 68363487 1 32 532.401 - - 6 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 3 7 5 7 18 15 18 15 5 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673727780 10 69780950 G GGTT 300 PASS HERC4 CCDS41533.1 r.? - - Ins intronic I 69780950 69780956 3 6 260.18 - - 1 1 1 HERC4|CCDS41533.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HERC4|CCDS41533.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 0 5 4 5 20 22 20 22 4 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673728722 10 71989674 CT C 300 PASS PPA1 CCDS7299.1 r.? - - Del intronic D 71989674 71989684 1 12 268.609 - - 9 1 1 PPA1|CCDS7299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPA1|CCDS7299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 2 3 2 25 19 25 19 3 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673734355 10 93759050 TGAAAA T 269 PASS BTAF1 CCDS7419.1 r.? - - Del intronic D 93759050 93759056 5 6 269.211 - - 1 1 1 BTAF1|CCDS7419.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BTAF1|CCDS7419.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 0 5 4 5 14 17 14 17 4 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673743700 10 124828328 TCTT TG 844 PASS - - - - - Complex - DI 124828329 124828331 3 80 0 - - 0 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 7 9 0 0 19 37 19 37 7 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673744414 10 127379030 A AC 420 PASS - - - - - Ins - I 127379030 127379033 1 14 372.681 - - 2 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 6 1 6 4 12 4 12 1 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673748360 11 4748743 T TA 360 PASS - - - - - Ins - I 4748743 4748753 1 15 318.191 - - 9 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 4 2 4 3 26 22 26 22 4 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673751471 11 14373458 AG A 269 PASS RRAS2 CCDS7814.1 r.? - - Del intronic D 14373458 14373460 1 6 266.062 - - 1 1 1 RRAS2|CCDS7814.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RRAS2|CCDS7814.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 5 0 10 0 22 22 23 22 11 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673753167 11 20953187 G GT 840 PASS NELL1 CCDS7855.1 r.? - - Ins intronic I 20953187 20953194 1 64 746.66 - - 6 1 1 NELL1|CCDS7855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NELL1|CCDS7855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 7 7 8 10 13 16 13 16 8 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673755811 11 29074443 TC T 1258 PASS - - - - - Del - D 29074443 29074445 1 140 1186.57 - - 1 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 13 9 16 9 20 12 20 12 16 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673769660 11 83819470 GA G 660 PASS DLG2 CCDS41696.1 r.? - - Del intronic D 83819470 83819474 1 40 593.284 - - 3 1 1 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 7 6 12 9 18 9 18 6 12 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673770543 11 87350144 AG A 569 PASS - - - - - Del - D 87350144 87350148 1 20 539.349 - - 3 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 9 5 15 8 24 8 24 5 15 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673771218 11 90188133 CA C 360 PASS - - - - - Del - D 90188133 90188141 1 16 319.997 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 3 4 4 20 17 20 17 4 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673776698 11 109921615 CTG C 480 PASS - - - - - Del - D 109921615 109921619 2 25 429.673 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 4 4 4 25 18 25 18 4 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673786994 12 10106124 C CTG 272 PASS - - - - - Ins - I 10106124 10106125 2 11 525.04 - - 0 1 1 - - ./. 0 0 0 0 23 21 23 21 0 0 ./. 10 0 14 4 65 47 67 47 14 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673789075 12 15324004 CTCTG C 540 PASS RERG CCDS8673.1 r.? - - Del intronic D 15324004 15324013 4 18 484.457 - - 2 1 1 RERG|CCDS8673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RERG|CCDS8673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 1 8 1 11 13 30 13 30 1 11 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673791491 12 22348487 ACAT A 327 PASS ST8SIA1 CCDS8697.1 r.7549_7551delAUG c.? p.? Del 3'UTR variant D 22348487 22348493 3 18 376.198 - - 1 1 1 ST8SIA1|CCDS8697.1|r.7549_7551delAUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ST8SIA1|CCDS8697.1|r.7549_7551delAUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 7 16 7 16 0 0 ./. 2 5 4 5 18 22 18 22 4 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673794379 12 30696430 G GA 360 PASS - - - - - Ins - I 30696430 30696438 1 12 319.359 - - 7 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 1 6 2 31 17 31 18 6 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673800775 12 51520065 TA T 507 PASS TFCP2 CCDS8808.1 r.? - - Del intronic D 51520065 51520070 1 20 514.806 - - 4 1 1 TFCP2|CCDS8808.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TFCP2|CCDS8808.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 7 18 7 0 0 ./. 1 9 3 14 12 31 12 32 3 15 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673806501 12 69128595 CAAAGA C 269 PASS NUP107 CCDS8985.1 r.2486_2490delAAAGA c.2371_2375delAAAGA p.K793fs*2 Del frameshift D 69128595 69128608 5 10 269.143 - - 2 1 1 NUP107|CCDS8985.1|r.2486_2490delAAAGA|c.2371_2375delAAAGA|p.K793fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 NUP107|CCDS8985.1|r.2486_2490delAAAGA|c.2371_2375delAAAGA|p.K793fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 10 7 10 0 0 ./. 1 4 1 5 4 27 4 27 1 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673811013 12 84205280 AC A 869 PASS - - - - - Del - D 84205280 84205284 1 66 805.623 - - 3 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 10 5 12 11 19 22 19 22 12 11 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673816635 12 101806387 TTTC T 399 PASS ARL1 CCDS44958.1 r.? - - Del upstream D 101806387 101806394 3 12 592.115 - - 2 1 1 ARL1|CCDS44958.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ARL1|CCDS44958.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 6 8 6 0 0 ./. 0 11 0 17 12 44 12 44 0 17 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673824084 12 122644201 TAC T 300 PASS - - - - - Del - D 122644201 122644218 2 10 269.143 - - 8 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 4 2 4 24 25 24 25 2 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673828150 12 132922137 CCCAGGTCTCAGTCGGTCCCAGACAAGGGCCGCAGCTCACCGCCCTCT C 261 PASS ENSG00000236291 ENST00000446891 r.? - - Del intronic D 132922137 132922186 47 28 476.63 - - 1 1 1 ENSG00000236291|ENST00000446891|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000236291|ENST00000446891|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 4 6 4 0 0 ./. 6 3 0 0 17 16 26 16 6 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673830344 13 23961443 C CA 660 PASS SACS CCDS9300.2 r.? - - Ins intronic I 23961443 23961452 1 36 589.189 - - 8 1 1 SACS|CCDS9300.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SACS|CCDS9300.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 8 3 12 10 18 16 18 16 12 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673836511 13 47623257 TA T 600 PASS - - - - - Del - D 47623257 47623262 1 35 539.841 - - 4 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 6 6 9 13 15 13 15 6 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673842616 13 71713781 TAAAA T 629 PASS - - - - - Del - D 71713781 71713789 4 36 595.21 - - 7 1 1 - - ./. 0 0 0 0 19 6 19 6 0 0 ./. 3 8 5 8 7 12 7 12 5 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673847349 13 90223552 CA C 660 PASS - - - - - Del - D 90223552 90223560 1 42 594.608 - - 7 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 6 5 8 6 12 9 12 9 8 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673852529 13 110343737 T TTAG 538 PASS - - - - - Ins - I 110343737 110343739 3 32 523.585 - - 0 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 7 3 7 10 13 18 13 18 7 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673864712 14 57362071 C CA 540 PASS - - - - - Ins - I 57362071 57362076 1 30 480.9 - - 4 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 4 8 5 11 12 11 12 8 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673870692 14 78301994 AAAGC A 776 PASS ADCK1 CCDS9869.1 r.? - - Del intronic D 78301994 78301999 4 66 802.503 - - 1 1 1 ADCK1|CCDS9869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCK1|CCDS9869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 10 5 11 9 19 11 19 11 11 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673896894 15 77246857 C CA 269 PASS RCN2 CCDS10291.1 r.? - - Ins downstream I 77246857 77246866 1 12 241.147 - - 8 1 1 RCN2|CCDS10291.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 RCN2|CCDS10291.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 3 3 9 12 9 13 3 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673904275 15 102292782 TCTCAGAGCTGCTGTCCAACCTGCACTCGCGTGGGAACGAGAAGACACTCGTGGAGGCGTCGGCAGAGCAGGCAGACCAAGGAGTTCATCTTCTCA T 270 PASS ENSG00000227174 ENST00000455316 r.116_165-40del95 c.116_165-40del95 p.? Del ess splice D 102292782 102292878 95 16 324.778 - - 1 1 1 ENSG00000227174|ENST00000455316|r.116_165-40del95|c.116_165-40del95|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ENSG00000227174|ENST00000455316|r.116_165-40del95|c.116_165-40del95|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 3 0 0 39 23 39 23 3 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673905714 16 3810964 G GT 360 PASS CREBBP CCDS10509.1 r.? - - Ins intronic I 3810964 3810973 1 15 320.737 - - 8 1 1 CREBBP|CCDS10509.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CREBBP|CCDS10509.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 4 4 8 23 41 24 41 4 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673916807 16 31928472 G GT 360 PASS ZNF267 CCDS32440.1 r.3111_3112insu c.? p.? Ins 3'UTR variant I 31928472 31928482 1 16 320.737 - - 9 1 1 ZNF267|CCDS32440.1|r.3111_3112insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ZNF267|CCDS32440.1|r.3111_3112insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 3 3 3 38 44 39 44 3 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673920000 16 47135472 TA T 254 PASS NETO2 CCDS10727.1 r.? - - Del intronic D 47135472 47135476 1 24 432.466 - - 3 1 1 NETO2|CCDS10727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NETO2|CCDS10727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 37 26 37 26 0 0 ./. 3 5 4 3 63 85 64 87 5 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673937075 17 18108210 C CA 300 PASS ALKBH5 CCDS42272.1 r.? - - Ins intronic I 18108210 18108220 1 12 263.933 - - 9 1 1 ALKBH5|CCDS42272.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ALKBH5|CCDS42272.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 3 2 3 16 27 16 27 2 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673939868 17 27510138 GT G 720 PASS - - - - - Del - D 27510138 27510143 1 24 647.286 - - 4 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 11 10 14 50 43 50 43 10 14 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673940295 17 28562352 C CA 600 PASS SLC6A4 CCDS11256.1 r.? - - Ins intronic I 28562352 28562356 1 35 533.886 - - 3 1 1 SLC6A4|CCDS11256.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SLC6A4|CCDS11256.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 6 4 7 24 34 24 35 4 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673951504 17 57921550 TCTC T 503 PASS TMEM49 CCDS11619.1 r.? - - Del downstream D 57921550 57921556 3 45 646.081 - - 1 1 1 TMEM49|CCDS11619.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TMEM49|CCDS11619.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 8 9 11 22 26 22 26 9 11 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673957703 17 73439747 TG T 269 PASS - - - - - Del - D 73439747 73439749 1 6 260.32 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 0 18 1 47 29 47 29 18 1 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673957889 17 73828463 TG T 720 PASS UNC13D CCDS11730.1 r.? - - Del intronic D 73828463 73828465 1 49 647.888 - - 1 1 1 UNC13D|CCDS11730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC13D|CCDS11730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 6 9 11 15 22 15 22 9 11 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673957995 17 74149193 CT C 360 PASS RNF157 CCDS32740.1 r.? - - Del intronic D 74149193 74149201 1 15 323.944 - - 7 1 1 RNF157|CCDS32740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF157|CCDS32740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 2 4 0 1 27 24 27 24 2 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673960045 17 79017848 CTT C 567 PASS BAIAP2 CCDS45806.1 r.? - - Del intronic D 79017848 79017851 2 42 593.295 - - 2 1 1 BAIAP2|CCDS45806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAIAP2|CCDS45806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 6 6 7 27 32 27 32 6 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673963965 18 6826487 T TA 265 PASS ARHGAP28 ENST00000419673 r.? - - Ins intronic I 6826487 6826490 1 8 372.55 - - 2 1 1 ARHGAP28|ENST00000419673|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP28|ENST00000419673|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 0 7 0 7 25 44 25 44 0 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673968738 18 20503133 T TAA 358 PASS - - - - - Ins - I 20503133 20503134 2 20 368.335 - - 0 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 4 8 6 22 30 22 31 8 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673970754 18 26202552 TA T 300 PASS - - - - - Del - D 26202552 26202554 1 6 263.355 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 0 1 0 58 41 58 41 6 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673972332 18 31064778 CAA C 300 PASS - - - - - Del - D 31064778 31064781 2 12 269.977 - - 2 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 5 3 21 21 21 21 5 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673972377 18 31171617 TC T 360 PASS ASXL3 CCDS45847.1 r.? - - Del intronic D 31171617 31171619 1 7 320.962 - - 1 1 1 ASXL3|CCDS45847.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASXL3|CCDS45847.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 6 0 12 0 53 45 53 45 12 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673974859 18 39049158 CT C 420 PASS - - - - - Del - D 39049158 39049160 1 20 377.968 - - 1 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 3 7 9 21 36 21 36 7 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673981873 18 58244730 TA T 720 PASS - - - - - Del - D 58244730 58244739 1 40 647.945 - - 8 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 9 6 10 18 33 18 33 6 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673982201 18 59327345 T TG 420 PASS - - - - - Ins - I 59327345 59327346 1 18 372.55 - - 0 1 - - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 2 5 3 38 38 38 38 5 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673983363 18 62400793 ACC A 269 PASS - - - - - Del - D 62400793 62400801 2 10 269.977 - - 7 1 - - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 1 4 1 37 50 37 50 4 1 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673983999 18 64041214 TG T 540 PASS - - - - - Del - D 64041214 64041216 1 28 485.357 - - 1 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 6 5 7 18 20 18 20 5 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673986850 18 70832636 AAGTG A 449 PASS - - - - - Del - D 70832636 70832642 4 24 431.964 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 3 5 4 26 19 26 19 5 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673987009 18 71203616 GAGA G 598 PASS - - - - - Del - D 71203616 71203621 3 36 593.95 - - 1 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 8 3 10 3 41 17 41 17 10 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673987946 18 73924689 GTC G 269 PASS - - - - - Del - D 73924689 73924706 2 10 269.977 - - 8 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 1 4 1 4 24 41 24 41 1 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673988691 18 75391841 CAT C 629 PASS - - - - - Del - D 75391841 75391844 2 42 593.348 - - 1 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 6 8 11 43 43 43 43 8 11 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673990791 19 2702979 GC G 420 PASS GNG7 CCDS12091.1 r.? - - Del upstream D 2702979 2702981 1 8 378.216 - - 1 1 1 GNG7|CCDS12091.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 AC005258.1|ENST00000507172|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 7 0 7 2 32 18 32 18 7 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673990851 19 2869359 CT C 252 PASS ZNF556 CCDS12097.1 r.? - - Del intronic D 2869359 2869367 1 6 270.155 - - 7 1 1 ZNF556|CCDS12097.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF556|CCDS12097.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 0 1 0 39 12 39 13 6 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2673992257 19 5467876 TA T 1313 PASS - - - - - Del - D 5467876 5467878 1 140 1184.47 - - 1 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 13 9 17 21 40 38 40 38 17 21 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674002592 19 29337705 GGT G 269 PASS - - - - - Del - D 29337705 29337722 2 6 270.155 - - 8 1 - - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 0 5 0 5 17 69 17 69 0 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674007891 19 42757673 AAGCG A 329 PASS ERF CCDS12600.1 r.? - - Del intronic D 42757673 42757680 4 7 324.186 - - 1 1 1 ERF|CCDS12600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERF|CCDS12600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 0 6 0 8 10 29 10 30 0 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674008381 19 44312273 C CT 720 PASS LYPD5 CCDS12631.1 r.? - - Ins intronic I 44312273 44312282 1 48 636.932 - - 8 1 1 LYPD5|CCDS12631.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LYPD5|CCDS12631.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 7 5 10 8 38 42 38 42 10 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674009651 19 46839805 CGT C 269 PASS HIF3A CCDS42580.1 r.? - - Del intronic D 46839805 46839822 2 12 259.318 - - 8 1 - HIF3A|CCDS42580.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HIF3A|CCDS42580.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 2 2 37 24 38 24 3 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674014537 19 56630374 C CA 600 PASS ZNF787 ENST00000270459 r.? - - Ins intronic I 56630374 56630377 1 32 534.289 - - 2 1 1 ZNF787|ENST00000270459|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF787|ENST00000270459|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 7 3 10 4 36 15 38 15 10 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674018724 2 11489829 C CT 840 PASS - - - - - Ins - I 11489829 11489831 1 60 743.121 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 13 0 0 ./. 5 9 10 12 13 16 13 16 10 12 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674023029 2 27955603 TG T 655 PASS - - - - - Del - D 27955603 27955605 1 42 590.503 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 6 9 6 18 16 18 16 9 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674025655 2 37004068 T TAAAA 345 PASS VIT CCDS33180.1 r.? - - Ins intronic I 37004068 37004074 4 12 562.809 - - 5 1 1 VIT|CCDS33180.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VIT|CCDS33180.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 0 11 1 0 38 27 38 38 1 11 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674036600 2 78630778 CTCTT C 569 PASS - - - - - Del - D 78630778 78630788 4 35 536.821 - - 2 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 4 8 4 20 17 20 17 8 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674036945 2 79819051 TTG T 300 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 79819051 79819054 2 6 266.002 - - 1 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 0 11 0 29 16 29 16 11 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674040173 2 95360564 TG T 530 PASS - - - - - Del - D 95360564 95360569 1 30 483.139 - - 4 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 5 4 7 9 16 18 16 18 7 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674044966 2 114840884 TG T 300 PASS - - - - - Del - D 114840884 114840886 1 6 267.207 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 0 6 0 15 10 15 10 6 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674045430 2 116623112 G GA 360 PASS - - - - - Ins - I 116623112 116623118 1 15 318.48 - - 5 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 4 2 5 10 23 12 23 2 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674055597 2 154131184 CCTT C 449 PASS - - - - - Del - D 154131184 154131190 3 21 429.457 - - 1 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 2 6 2 6 15 15 15 15 2 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674056083 2 156323098 CT C 509 PASS - - - - - Del - D 156323098 156323107 1 18 483.139 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 8 3 13 5 25 5 25 3 13 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674056479 2 157937260 CA C 300 PASS - - - - - Del - D 157937260 157937265 1 12 268.411 - - 4 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 2 4 4 13 19 13 19 4 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674058901 2 168637462 CT C 300 PASS - - - - - Del - D 168637462 168637466 1 12 268.411 - - 3 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 2 5 4 23 20 23 20 5 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674065868 2 193622234 G GT 300 PASS - - - - - Ins - I 193622234 193622244 1 12 265.4 - - 9 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 3 2 4 3 14 15 15 15 4 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674068573 2 203802059 ATTGAGATTATTATT A 377 PASS ALS2CR8 CCDS42801.1 r.? - - Del intronic D 203802059 203802076 14 50 696.664 - - 1 1 1 ALS2CR8|CCDS42801.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ALS2CR8|CCDS42801.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 9 5 12 18 25 18 25 5 12 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674069252 2 206407965 G GA 300 PASS PARD3B CCDS42806.1 r.? - - Ins intronic I 206407965 206407975 1 10 265.4 - - 9 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 4 1 4 19 20 19 20 1 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674070176 2 209607324 TATAAC T 300 PASS - - - - - Del - D 209607324 209607333 5 10 268.411 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 1 6 1 11 9 11 9 6 1 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674078633 2 240067154 CA C 720 PASS HDAC4 CCDS2529.1 r.? - - Del intronic D 240067154 240067157 1 48 644.186 - - 2 1 1 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 2 9 2 0 0 ./. 5 7 5 11 21 29 21 29 5 11 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674080570 20 3168944 GAGCCA G 385 PASS DDRGK1 CCDS13050.1 r.? - - Del downstream D 3168944 3168952 5 28 486.962 - - 1 1 1 DDRGK1|CCDS13050.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DDRGK1|CCDS13050.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 6 7 9 44 28 44 28 7 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674087560 20 23775330 C CT 360 PASS - - - - - Ins - I 23775330 23775338 1 15 321.029 - - 7 1 1 - - ./. 0 0 0 0 20 6 20 6 0 0 ./. 2 4 8 4 26 16 26 16 8 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674090588 20 31306214 AG A 267 PASS COMMD7 CCDS46587.1 r.? - - Del intronic D 31306214 31306221 1 15 318.621 - - 6 1 1 COMMD7|CCDS46587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COMMD7|CCDS46587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 2 8 3 44 46 44 46 8 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674093340 20 37949924 A AT 360 PASS - - - - - Ins - I 37949924 37949933 1 12 321.029 - - 8 1 1 - - ./. 0 0 0 0 4 17 4 17 0 0 ./. 1 5 2 5 19 22 19 22 2 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674099984 20 54935516 TG T 540 PASS C20orf108 CCDS13450.1 r.? - - Del intronic D 54935516 54935518 1 30 486.962 - - 1 1 1 C20orf108|CCDS13450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C20orf108|ENST00000437418|r.363delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 4 6 6 40 38 40 38 6 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674110711 21 26945010 G GA 480 PASS AP001441.1 ENST00000509807 r.? - - Ins intronic I 26945010 26945018 1 25 429.834 - - 7 1 1 AP001441.1|ENST00000509807|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AP001441.1|ENST00000509807|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 4 7 5 29 13 29 13 7 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674119292 22 19228635 TC T 1260 PASS ENSG00000249108 ENST00000505027 r.? - - Del intronic D 19228635 19228639 1 130 1141.22 - - 3 1 1 ENSG00000249108|ENST00000505027|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000249108|ENST00000505027|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 9 12 15 13 28 27 28 27 15 13 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674124921 22 34016153 TAAAA T 269 PASS LARGE CCDS13912.1 r.? - - Del intronic D 34016153 34016161 4 6 271.863 - - 7 1 1 LARGE|CCDS13912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LARGE|CCDS13912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 0 5 1 6 10 13 10 13 1 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674128419 22 42905856 G GGTGTGTGTGTGT 290 PASS RRP7B CCDS14036.1 r.? - - Ins downstream I 42905856 42905875 12 20 464.857 - - 9 1 1 RRP7B|CCDS14036.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 RRP7B|CCDS14036.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 6 6 7 6 0 0 ./. 9 1 8 0 29 28 32 28 11 1 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674130721 22 48878680 ACCT A 420 PASS - - - - - Del - D 48878680 48878686 3 18 380.609 - - 1 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 5 2 5 18 32 18 32 2 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674138763 3 21403837 GA G 540 PASS - - - - - Del - D 21403837 21403842 1 24 483.177 - - 4 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 7 2 8 3 30 27 30 27 8 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674139668 3 24310933 C CAT 389 PASS THRB CCDS2641.1 r.? - - Ins intronic I 24310933 24310934 2 18 361.355 - - 0 1 - THRB|CCDS2641.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 THRB|CCDS2641.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 5 6 8 22 57 22 58 6 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674143477 3 37316548 CA C 300 PASS GOLGA4 CCDS2666.1 r.? - - Del intronic D 37316548 37316558 1 10 268.432 - - 9 1 1 GOLGA4|CCDS2666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GOLGA4|CCDS2666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 1 4 1 4 36 49 36 49 1 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674147428 3 49437024 TC T 300 PASS RHOA CCDS2795.1 r.? - - Del intronic D 49437024 49437030 1 12 267.228 - - 5 1 1 RHOA|CCDS2795.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RHOA|CCDS2795.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 2 6 6 24 52 24 52 6 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674149357 3 55420238 CA C 474 PASS - - - - - Del - D 55420238 55420243 1 16 429.491 - - 4 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 7 1 10 2 35 16 35 16 10 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674150768 3 59260143 CAT C 360 PASS - - - - - Del - D 59260143 59260147 2 7 322.118 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 0 6 0 15 8 15 8 6 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674161165 3 89965721 TTG T 300 PASS - - - - - Del - D 89965721 89965739 2 10 268.432 - - 8 1 - - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 1 4 1 44 12 44 12 5 1 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674161862 3 95463578 G GGCA 269 PASS - - - - - Ins - I 95463578 95463581 3 10 465.717 - - 0 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 0 9 0 10 10 34 10 34 0 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674165260 3 106034611 A AT 540 PASS - - - - - Ins - I 106034611 106034620 1 28 477.759 - - 8 1 1 - - ./. 0 0 0 0 14 18 15 19 0 0 ./. 6 3 9 7 33 30 33 30 9 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674168303 3 114993522 G GT 1020 PASS - - - - - Ins - I 114993522 114993532 1 88 897.014 - - 9 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 7 10 10 17 30 33 30 33 10 17 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674169086 3 117485144 C CA 569 PASS - - - - - Ins - I 117485144 117485151 1 20 530.241 - - 6 1 - - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 9 1 13 1 41 9 41 9 13 1 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674177872 3 145691777 C CA 540 PASS - - - - - Ins - I 145691777 145691784 1 18 477.759 - - 6 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 1 8 3 11 17 31 17 31 3 11 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674177902 3 145795384 T TA 300 PASS PLOD2 CCDS3132.1 r.? - - Ins intronic I 145795384 145795392 1 12 261.207 - - 7 1 1 PLOD2|CCDS3132.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLOD2|CCDS3132.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 3 3 5 26 18 26 18 3 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674178025 3 146163328 A AT 360 PASS PLSCR2 CCDS3134.1 r.? - - Ins intronic I 146163328 146163338 1 16 317.302 - - 9 1 1 PLSCR2|CCDS3134.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLSCR2|CCDS3134.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 3 5 5 18 24 18 24 5 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674189327 3 182227803 A AAC 360 PASS - - - - - Ins - I 182227803 182227812 2 16 314.893 - - 4 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 3 4 3 25 18 25 18 4 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674190375 3 185025334 CT C 420 PASS MAP3K13 CCDS3270.1 r.? - - Del intronic D 185025334 185025336 1 20 371.59 - - 1 1 1 MAP3K13|CCDS3270.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAP3K13|CCDS3270.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 3 4 4 2 20 39 20 39 4 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674201351 4 18114990 A AT 420 PASS - - - - - Ins - I 18114990 18114999 1 20 369.105 - - 8 1 1 - - ./. 0 0 0 0 10 18 10 19 0 0 ./. 4 3 4 4 14 27 14 27 4 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674201473 4 18555963 CCAAG C 538 PASS - - - - - Del - D 18555963 18555968 4 36 536.754 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 5 5 5 18 20 18 20 5 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674203002 4 23862720 T TC 300 PASS PPARGC1A CCDS3429.1 r.? - - Ins intronic I 23862720 23862723 1 12 265.367 - - 2 1 1 PPARGC1A|CCDS3429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPARGC1A|CCDS3429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 9 20 9 0 0 ./. 3 2 5 4 32 15 32 15 5 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674215303 4 60808647 A AT 600 PASS - - - - - Ins - I 60808647 60808653 1 36 530.132 - - 5 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 5 5 8 6 27 35 27 35 8 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674216268 4 63429113 GT G 569 PASS - - - - - Del - D 63429113 63429120 1 35 536.754 - - 6 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 6 5 7 26 40 26 40 5 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674217981 4 68095733 C CA 569 PASS - - - - - Ins - I 68095733 68095741 1 32 530.734 - - 7 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 7 3 8 3 43 33 43 34 8 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674221146 4 77730588 TC T 360 PASS - - - - - Del - D 77730588 77730590 1 7 307.001 - - 1 1 - - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 6 0 7 0 25 36 25 36 7 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674222030 4 80649064 G GAT 360 PASS - - - - - Ins - I 80649064 80649074 2 12 314.828 - - 4 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 1 6 2 16 18 16 18 6 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674226014 4 92499516 TTATTATATA T 261 PASS FAM190A CCDS47099.1 r.? - - Del intronic D 92499516 92499528 9 30 483.079 - - 1 1 1 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 4 5 5 5 17 20 17 20 5 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674230617 4 109133857 A AT 300 PASS - - - - - Ins - I 109133857 109133867 1 12 261.755 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 3 2 31 24 32 24 3 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674239398 4 134876435 AT A 720 PASS - - - - - Del - D 134876435 134876445 1 49 644.105 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 6 8 7 34 24 34 24 8 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674240128 4 137310697 CAGA C 329 PASS - - - - - Del - D 137310697 137310704 3 12 322.053 - - 2 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 1 5 3 5 22 42 22 42 3 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674242702 4 145524917 TTC T 300 PASS - - - - - Del - D 145524917 145524934 2 12 264.765 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 3 2 26 32 26 32 3 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674243294 4 147794622 C CTCTG 389 PASS TTC29 CCDS47141.1 r.? - - Ins intronic I 147794622 147794627 4 20 358.268 - - 1 1 1 TTC29|CCDS47141.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC29|CCDS47141.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 3 4 3 4 22 30 22 30 3 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674245047 4 153874637 A AT 300 PASS FHDC1 CCDS34081.1 r.? - - Ins intronic I 153874637 153874647 1 10 261.152 - - 9 1 1 FHDC1|CCDS34081.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FHDC1|CCDS34081.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 4 1 4 29 25 29 25 1 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674248750 4 164790259 CA C 480 PASS MARCH1 CCDS45732.1 r.? - - Del intronic D 164790259 164790265 1 24 428.801 - - 5 1 1 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 5 3 6 14 23 14 23 3 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674249879 4 167753041 TC T 509 PASS SPOCK3 CCDS34095.1 r.? - - Del intronic D 167753041 167753043 1 24 483.079 - - 1 1 1 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 7 4 10 23 29 23 29 4 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674252118 4 174804358 TC T 360 PASS - - - - - Del - D 174804358 174804360 1 7 320.848 - - 1 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 6 0 6 0 19 16 19 16 6 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674252237 4 175159853 TATATAAATTTGTAGGTAATATATAAA TTAC 261 PASS FBXO8 CCDS3820.1 r.? - - Complex intronic DI 175159854 175159879 26 24 0 - - 0 1 - FBXO8|CCDS3820.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 FBXO8|CCDS3820.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 7 2 0 0 10 12 10 12 7 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674260784 5 3128794 CT C 611 PASS - - - - - Del - D 3128794 3128796 1 54 697.625 - - 1 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 8 5 13 6 34 19 34 19 13 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674262082 5 6484026 TTC T 480 PASS UBE2QL1 CCDS47189.1 r.? - - Del intronic D 6484026 6484032 2 21 428.706 - - 2 1 1 UBE2QL1|CCDS47189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBE2QL1|CCDS47189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 6 2 8 38 46 38 46 2 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674265976 5 17151381 CAT C 300 PASS - - - - - Del - D 17151381 17151396 2 12 268.317 - - 7 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 2 3 34 29 34 29 2 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674268436 5 23626523 C CA 877 PASS - - - - - Ins - I 23626523 23626530 1 72 794.115 - - 6 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 7 8 10 9 43 55 44 55 11 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674268878 5 24719394 TC T 360 PASS - - - - - Del - D 24719394 24719400 1 12 321.981 - - 5 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 1 5 1 6 33 34 33 34 1 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674268986 5 25039301 TA T 300 PASS - - - - - Del - D 25039301 25039308 1 12 268.317 - - 6 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 3 5 8 23 24 23 24 5 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674269310 5 25777846 CA C 629 PASS - - - - - Del - D 25777846 25777854 1 40 590.298 - - 7 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 7 4 8 6 38 45 38 45 8 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674269639 5 26555121 AT A 720 PASS - - - - - Del - D 26555121 26555123 1 48 643.961 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 7 5 7 12 22 24 22 24 7 12 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674269667 5 26596552 C CT 600 PASS - - - - - Ins - I 26596552 26596555 1 35 530.614 - - 2 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 6 4 8 6 31 36 31 36 8 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674270820 5 29590265 A AAG 300 PASS - - - - - Ins - I 29590265 29590267 2 6 262.297 - - 0 1 - - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 0 1 0 35 35 35 37 6 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674274805 5 39730990 A AG 329 PASS - - - - - Ins - I 39730990 39730993 1 15 318.368 - - 2 1 1 - - ./. 0 0 0 0 4 13 4 13 0 0 ./. 4 2 5 3 40 19 41 19 5 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674278928 5 55268352 G GCAA 1049 PASS IL6ST CCDS3971.1 r.? - - Ins intronic I 55268352 55268356 3 96 932.829 - - 1 1 1 IL6ST|CCDS3971.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL6ST|CCDS3971.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 11 12 0 0 ./. 7 11 13 16 32 57 32 57 13 16 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674278936 5 55283319 TAAC T 300 PASS IL6ST CCDS3971.1 r.? - - Del intronic D 55283319 55283328 3 10 268.317 - - 2 1 1 IL6ST|CCDS3971.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IL6ST|CCDS3971.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 4 1 4 14 43 14 43 1 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674279259 5 56168710 AC A 1289 PASS MAP3K1 CCDS43318.1 r.1565delC c.1565delC p.V523fs*34 Del frameshift D 56168710 56168713 1 140 1178.79 - - 2 1 1 MAP3K1|CCDS43318.1|r.1565delC|c.1565delC|p.V523fs*34|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 MAP3K1|CCDS43318.1|r.1565delC|c.1565delC|p.V523fs*34|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 14 12 14 12 0 0 ./. 9 13 9 18 27 40 27 40 9 18 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674280379 5 59240178 C CT 269 PASS PDE4D CCDS47032.1 r.? - - Ins intronic I 59240178 59240188 1 12 255.072 - - 9 1 - PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 2 4 69 37 70 38 2 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674282284 5 65228792 AT A 300 PASS ERBB2IP CCDS34172.1 r.? - - Del intronic D 65228792 65228802 1 12 268.317 - - 9 1 1 ERBB2IP|CCDS34172.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ERBB2IP|CCDS34172.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 3 2 3 33 61 33 61 2 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674288023 5 81545304 T TA 269 PASS ATG10 CCDS4057.1 r.? - - Ins intronic I 81545304 81545307 1 12 265.307 - - 2 1 1 ATG10|CCDS4057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATG10|CCDS4057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 3 2 4 42 28 42 28 2 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674289139 5 84519379 T TA 420 PASS - - - - - Ins - I 84519379 84519386 1 20 371.43 - - 6 1 1 - - ./. 0 0 0 0 13 15 13 16 0 0 ./. 4 3 5 6 26 65 26 65 5 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674294875 5 103446010 CT C 300 PASS - - - - - Del - D 103446010 103446018 1 12 268.317 - - 7 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 2 4 3 41 23 41 23 4 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674295092 5 104178084 G GA 300 PASS ENSG00000232402 ENST00000438939 r.? - - Ins intronic I 104178084 104178094 1 12 265.307 - - 9 1 1 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 2 3 2 58 25 58 25 3 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674296491 5 108354773 A AT 960 PASS FER CCDS4098.1 r.? - - Ins intronic I 108354773 108354781 1 65 848.982 - - 7 1 1 FER|CCDS4098.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FER|CCDS4098.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 12 4 13 4 27 24 27 24 13 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674296740 5 108997979 TC T 420 PASS - - - - - Del - D 108997979 108997981 1 14 375.644 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 1 6 2 6 23 39 23 39 2 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674301771 5 124095223 TTA T 694 PASS - - - - - Del - D 124095223 124095226 2 64 751.288 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 7 7 11 14 52 42 52 42 11 14 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674304735 5 133272564 C CT 1200 PASS - - - - - Ins - I 133272564 133272573 1 117 1060.63 - - 8 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 8 12 10 21 28 58 28 58 10 21 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674305913 5 136886313 C CA 507 PASS - - - - - Ins - I 136886313 136886322 1 75 953.901 - - 8 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 14 4 13 8 47 23 51 25 15 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674311417 5 152198646 CA C 480 PASS - - - - - Del - D 152198646 152198648 1 25 428.706 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 4 4 5 17 32 17 32 4 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674317697 5 170104832 GA G 1020 PASS KCNIP1 CCDS4374.1 r.? - - Del intronic D 170104832 170104842 1 48 912.279 - - 9 1 1 KCNIP1|CCDS4374.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP1|CCDS4374.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 15 2 17 2 34 19 34 19 17 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674319038 5 173380743 TC T 329 PASS CPEB4 CCDS4390.1 r.? - - Del intronic D 173380743 173380745 1 12 306.929 - - 1 1 1 CPEB4|CCDS4390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPEB4|CCDS4390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 1 7 1 33 25 33 25 7 1 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674320551 5 177061755 AT A 326 PASS - - - - - Del - D 177061755 177061764 1 15 321.981 - - 8 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 4 6 5 26 45 26 45 6 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674326563 6 12484771 G GT 360 PASS - - - - - Ins - I 12484771 12484775 1 15 319.342 - - 3 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 2 4 4 21 18 22 18 4 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674349638 6 83026001 TG T 600 PASS - - - - - Del - D 83026001 83026003 1 27 538.257 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 8 5 9 11 33 11 33 5 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674356351 6 108582322 A AG 300 PASS SNX3 CCDS5064.1 r.142_143insc c.? p.? Ins 5'UTR variant I 108582322 108582327 1 12 265.516 - - 4 1 1 SNX3|CCDS5064.1|r.142_143insc|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 SNX3|CCDS5064.1|r.142_143insc|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 19 6 19 6 0 0 ./. 2 3 2 4 16 21 16 22 2 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674358628 6 117064622 CCTTA C 658 PASS KPNA5 CCDS5111.1 r.? - - Del downstream D 117064622 117064632 4 48 645.306 - - 2 1 1 KPNA5|CCDS5111.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KPNA5|CCDS5111.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 7 9 7 21 27 21 27 9 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674377624 7 13562498 A AT 300 PASS - - - - - Ins - I 13562498 13562500 1 12 260.167 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 4 5 13 15 13 15 4 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674378157 7 15388491 GA G 300 PASS TMEM195 CCDS34604.1 r.? - - Del intronic D 15388491 15388501 1 12 269.198 - - 9 1 1 TMEM195|CCDS34604.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM195|CCDS34604.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 3 2 4 14 13 14 13 2 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674380813 7 24706610 CTAAA C 387 PASS MPP6 CCDS5388.1 r.? - - Del intronic D 24706610 24706617 4 21 430.717 - - 1 1 1 MPP6|CCDS5388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MPP6|CCDS5388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 2 6 2 7 12 17 12 17 2 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674384653 7 37902894 TC T 360 PASS TXNDC3 CCDS5452.1 r.? - - Del intronic D 37902894 37902896 1 12 323.038 - - 1 1 1 TXNDC3|CCDS5452.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TXNDC3|CCDS5452.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 5 1 8 4 20 15 20 15 8 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674391602 7 61787544 TAATCGAATGAAATCATCACTG T 317 PASS - - - - - Del - D 61787544 61787569 21 36 699.313 - - 1 1 1 - - ./. 0 0 0 0 28 48 28 48 0 0 ./. 2 11 0 0 114 142 114 142 2 11 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674396652 7 74089873 GT G 509 PASS GTF2I CCDS5573.1 r.? - - Del intronic D 74089873 74089882 1 10 484.556 - - 8 1 1 GTF2I|CCDS5573.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GTF2I|CCDS5573.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 9 0 12 4 25 19 25 19 12 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674406681 7 109327181 GT G 269 PASS - - - - - Del - D 109327181 109327190 1 12 269.198 - - 8 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 2 3 3 5 18 20 18 20 3 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674407759 7 114113885 GA G 540 PASS FOXP2 CCDS43635.1 r.? - - Del intronic D 114113885 114113887 1 28 483.954 - - 1 1 1 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 6 3 7 4 16 10 16 10 7 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674409288 7 120246309 ATTG A 329 PASS KCND2 CCDS5776.1 r.? - - Del intronic D 120246309 120246317 3 16 323.038 - - 2 1 1 KCND2|CCDS5776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCND2|CCDS5776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 3 3 3 12 12 12 12 3 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674422783 8 4229700 A AT 600 PASS - - - - - Ins - I 4229700 4229708 1 36 529.294 - - 7 1 1 - - ./. 0 0 0 0 16 16 17 16 0 0 ./. 5 5 7 7 12 12 12 12 7 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674422806 8 4294833 G GA 600 PASS - - - - - Ins - I 4294833 4294842 1 32 526.886 - - 8 1 1 - - ./. 0 0 0 0 15 12 15 13 0 0 ./. 7 3 8 6 16 11 16 11 8 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674423320 8 6026829 CA C 480 PASS - - - - - Del - D 6026829 6026838 1 21 428.252 - - 8 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 6 2 7 5 13 14 13 14 7 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674424276 8 10006649 TA T 389 PASS MSRA CCDS47799.1 r.? - - Del intronic D 10006649 10006651 1 8 355.454 - - 1 1 1 MSRA|CCDS47799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSRA|CCDS47799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 7 0 10 0 26 10 26 10 10 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674429831 8 31315296 T TTA 300 PASS - - - - - Ins - I 31315296 31315309 2 12 261.637 - - 6 1 - - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 2 3 3 4 10 12 11 12 3 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674429860 8 31453487 T TA 480 PASS - - - - - Ins - I 31453487 31453496 1 16 423.435 - - 8 1 1 - - ./. 0 0 0 0 17 6 17 6 0 0 ./. 7 1 7 2 13 8 13 8 7 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674435660 8 51370093 AAACAC A 598 PASS SNTG1 CCDS6147.1 r.? - - Del intronic D 51370093 51370099 5 30 588.244 - - 1 1 1 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 9 8 10 86 92 86 92 8 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674435803 8 51646260 ATG A 395 PASS SNTG1 CCDS6147.1 r.? - - Del intronic D 51646260 51646266 2 21 428.252 - - 2 1 1 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 6 2 7 3 78 92 78 92 7 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674435997 8 52106688 G GT 300 PASS - - - - - Ins - I 52106688 52106698 1 12 264.647 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 4 66 62 68 62 3 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674436302 8 52708918 A AC 353 PASS PXDNL CCDS47855.1 r.? - - Ins intronic I 52708918 52708921 1 7 310.352 - - 2 1 1 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 6 0 6 4 88 105 90 105 6 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674436663 8 53351840 GGT G 420 PASS - - - - - Del - D 53351840 53351858 2 20 374.72 - - 8 1 - - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 4 5 6 72 186 72 186 5 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674436975 8 53831833 ACTT A 329 PASS - - - - - Del - D 53831833 53831841 3 12 319.985 - - 2 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 1 5 5 5 68 77 68 77 5 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674438055 8 55581379 CTGAAAC CCATA 375 PASS RP1 ENST00000427058 r.? - - Complex intronic DI 55581380 55581385 6 36 0 - - 0 1 1 RP1|ENST00000427058|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 RP1|ENST00000427058|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 3 8 0 0 91 91 93 96 3 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674438348 8 56174447 TA T 360 PASS XKR4 CCDS34893.1 r.? - - Del intronic D 56174447 56174456 1 16 320.587 - - 8 1 1 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 4 4 83 69 83 69 4 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674438965 8 57107135 GGT G 269 PASS PLAG1 CCDS6165.1 r.? - - Del intronic D 57107135 57107155 2 12 265.851 - - 9 1 - PLAG1|CCDS6165.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLAG1|CCDS6165.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 2 5 4 166 82 166 82 6 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674439470 8 58032069 TTG T 420 PASS - - - - - Del - D 58032069 58032085 2 20 373.516 - - 7 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 3 4 5 52 68 52 68 4 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674439791 8 58730387 AAT A 389 PASS - - - - - Del - D 58730387 58730393 2 14 373.516 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 6 1 8 60 114 60 114 1 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674439869 8 58874368 A AC 396 PASS - - - - - Ins - I 58874368 58874371 1 70 793.941 - - 2 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 9 6 11 7 161 108 162 109 12 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674440671 8 60618734 C CA 273 PASS - - - - - Ins - I 60618734 60618738 1 28 476.365 - - 3 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 3 8 3 146 102 148 103 10 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674441271 8 61722252 AAG A 360 PASS CHD7 CCDS47865.1 r.? - - Del intronic D 61722252 61722256 2 7 305.535 - - 1 1 - CHD7|CCDS47865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHD7|CCDS47865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 0 8 0 68 57 68 58 8 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674441295 8 61801767 TA T 300 PASS - - - - - Del - D 61801767 61801773 1 6 262.841 - - 5 1 1 - - ./. 0 0 0 0 3 8 3 8 0 0 ./. 0 5 0 9 108 95 108 95 0 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674442613 8 64280669 G GT 269 PASS - - - - - Ins - I 64280669 64280679 1 10 264.045 - - 9 1 1 - - ./. 0 0 0 0 22 9 22 9 0 0 ./. 1 4 3 4 51 88 51 88 3 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674445834 8 70072666 AG A 300 PASS - - - - - Del - D 70072666 70072668 1 6 264.045 - - 1 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 5 0 18 0 47 17 48 17 18 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674445869 8 70119279 TC T 389 PASS - - - - - Del - D 70119279 70119281 1 8 362.679 - - 1 1 - - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 0 7 0 20 95 81 95 81 0 20 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674447311 8 72368565 G GC 303 PASS - - - - - Ins - I 72368565 72368568 1 40 633.347 - - 2 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 9 3 11 5 105 108 106 108 11 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674447500 8 72718463 AAC A 360 PASS - - - - - Del - D 72718463 72718467 2 7 314.566 - - 1 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 6 0 10 0 77 71 77 72 10 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674447915 8 73511820 C CAAA 319 PASS KCNB2 CCDS6209.1 r.? - - Ins intronic I 73511820 73511822 3 50 672.429 - - 1 1 1 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 9 4 8 5 196 108 199 109 10 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674448024 8 73759180 A AG 261 PASS KCNB2 CCDS6209.1 r.? - - Ins intronic I 73759180 73759181 1 30 475.763 - - 0 1 1 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 4 6 6 163 73 163 76 6 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674448054 8 73840429 T TC 300 PASS KCNB2 CCDS6209.1 r.? - - Ins intronic I 73840429 73840430 1 10 263.443 - - 0 1 - KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 4 1 13 5 90 88 91 89 13 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674448120 8 73926355 GGT G 360 PASS ENSG00000147601 CCDS6211.1 r.? - - Del intronic D 73926355 73926372 2 15 321.189 - - 8 1 1 ENSG00000147601|CCDS6211.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000147601|CCDS6211.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 4 4 4 63 72 63 72 4 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674448314 8 74243195 AAG A 269 PASS AC111149.1 ENST00000514599 r.? - - Del intronic D 74243195 74243199 2 6 262.841 - - 1 1 1 AC111149.1|ENST00000514599|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC111149.1|ENST00000514599|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 0 9 0 81 53 81 53 9 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674448895 8 74994487 CTCTT C 418 PASS - - - - - Del - D 74994487 74994497 4 24 425.843 - - 2 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 5 5 5 74 70 74 70 5 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674449338 8 75844431 T TG 480 PASS - - - - - Ins - I 75844431 75844432 1 24 416.211 - - 0 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 5 4 6 73 99 74 99 4 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674449396 8 75975499 T TA 320 PASS - - - - - Ins - I 75975499 75975505 1 40 582.223 - - 5 1 1 - - ./. 0 0 0 0 10 11 10 12 0 0 ./. 4 7 5 7 65 72 65 73 5 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674449431 8 76046321 A AT 257 PASS - - - - - Ins - I 76046321 76046327 1 28 476.365 - - 5 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 3 5 3 87 77 89 77 8 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674449946 8 76925889 AT A 600 PASS - - - - - Del - D 76925889 76925891 1 35 532.304 - - 1 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 6 8 9 66 63 66 63 8 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674450101 8 77224462 A AAATCTCCTT 364 PASS - - - - - Ins - I 77224462 77224465 9 56 625.468 - - 0 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 7 6 3 2 88 70 92 75 7 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674450224 8 77474537 G GT 420 PASS - - - - - Ins - I 77474537 77474547 1 14 366.893 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 6 3 8 111 100 111 101 3 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674450830 8 78663083 G GA 300 PASS - - - - - Ins - I 78663083 78663093 1 12 264.647 - - 9 1 1 - - ./. 0 0 0 0 13 19 13 20 0 0 ./. 2 3 3 4 79 42 79 42 3 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674450836 8 78681084 AAC A 300 PASS - - - - - Del - D 78681084 78681102 2 12 267.657 - - 8 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 2 4 2 74 41 74 41 4 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674453187 8 83323488 C CA 360 PASS - - - - - Ins - I 83323488 83323497 1 12 312.76 - - 8 1 - - - ./. 0 0 0 0 17 4 17 4 0 0 ./. 5 1 7 7 124 154 127 155 7 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674454055 8 84909854 AC A 329 PASS - - - - - Del - D 84909854 84909856 1 7 312.158 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 0 12 0 87 132 87 132 12 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674457092 8 91227692 C CT 1020 PASS - - - - - Ins - I 91227692 91227700 1 90 899.8 - - 7 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 8 9 32 18 98 73 98 77 32 18 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674457114 8 91292697 T TC 1380 PASS - - - - - Ins - I 91292697 91292698 1 156 1205.33 - - 0 1 - - - ./. 0 0 0 0 9 13 9 14 0 0 ./. 12 11 39 25 82 51 86 51 39 25 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674457272 8 91646177 CT C 720 PASS TMEM64 CCDS34920.2 r.? - - Del intronic D 91646177 91646180 1 48 642.378 - - 2 1 1 TMEM64|CCDS34920.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM64|CCDS34920.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 5 7 6 10 72 76 72 76 6 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674457700 8 92594096 T TC 318 PASS - - - - - Ins - I 92594096 92594099 1 36 581.621 - - 2 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 8 3 6 2 75 83 77 85 9 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674458933 8 94957164 GTA G 300 PASS - - - - - Del - D 94957164 94957181 2 10 267.657 - - 8 1 - - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 1 4 2 6 85 71 85 71 2 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674459080 8 95241105 AT A 660 PASS - - - - - Del - D 95241105 95241109 1 36 588.244 - - 3 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 8 3 16 7 134 85 134 85 16 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674459114 8 95331330 GTC G 300 PASS - - - - - Del - D 95331330 95331348 2 12 267.657 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 3 4 2 66 46 66 46 4 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674459253 8 95494889 AG A 360 PASS - - - - - Del - D 95494889 95494891 1 7 311.556 - - 1 1 1 - - ./. 0 0 0 0 2 12 2 12 0 0 ./. 6 0 13 0 96 81 96 81 13 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674459589 8 95791737 TG T 300 PASS DPY19L4 CCDS34924.1 r.? - - Del intronic D 95791737 95791739 1 6 265.249 - - 1 1 1 DPY19L4|CCDS34924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPY19L4|CCDS34924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 0 8 0 62 87 62 87 8 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674459838 8 96051691 A AG 300 PASS C8orf38 CCDS6266.2 r.? - - Ins intronic I 96051691 96051699 1 12 262.239 - - 7 1 1 C8orf38|CCDS6266.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C8orf38|CCDS6266.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 2 3 5 8 70 129 70 130 5 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674460182 8 96686258 TG T 415 PASS - - - - - Del - D 96686258 96686260 1 8 337.392 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 7 0 27 0 98 66 98 66 27 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674460505 8 97289198 GCA G 269 PASS PTDSS1 CCDS6271.1 r.? - - Del intronic D 97289198 97289202 2 6 263.443 - - 1 1 - PTDSS1|CCDS6271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTDSS1|CCDS6271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 0 5 0 7 155 71 155 71 0 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674460744 8 97682565 TG T 600 PASS ENSG00000104324 CCDS6273.1 r.? - - Del intronic D 97682565 97682568 1 36 534.713 - - 2 1 - ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 5 5 5 76 103 76 103 5 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674462679 8 100614236 CCA C 285 PASS VPS13B CCDS6280.1 r.? - - Del intronic D 100614236 100614241 2 30 481.783 - - 2 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 5 4 7 4 98 92 99 94 8 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674462908 8 101060199 GT G 360 PASS RGS22 CCDS43758.1 r.? - - Del intronic D 101060199 101060201 1 7 318.781 - - 1 1 1 RGS22|CCDS43758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS22|CCDS43758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 0 6 0 119 107 119 107 6 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674463128 8 101421893 CAG C 360 PASS - - - - - Del - D 101421893 101421911 2 15 320.587 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 4 7 7 85 95 85 95 7 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674463404 8 101805229 A AT 6472 PASS - - - - - Ins - I 101805229 101805238 1 1953 5921.47 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 20 92 29 133 48 191 49 191 29 133 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674463964 8 102727693 C CAAAATTGACA 254 PASS NCALD CCDS6292.1 r.? - - Ins intronic I 102727693 102727696 10 24 380.087 - - 0 1 1 NCALD|CCDS6292.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NCALD|CCDS6292.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 5 4 1 187 68 193 73 6 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674464713 8 103962062 AG A 360 PASS - - - - - Del - D 103962062 103962064 1 7 314.566 - - 1 1 - - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 0 30 1 141 59 141 59 30 1 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674465373 8 105089211 A AT 389 PASS RIMS2 ENST00000507740 r.? - - Ins intronic I 105089211 105089219 1 20 370.506 - - 7 1 1 RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 4 6 7 124 104 125 107 6 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674465923 8 106186727 TTTTG T 1440 PASS - - - - - Del - D 106186727 106186749 4 153 1284.15 - - 5 1 - - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 16 8 25 11 127 67 127 67 25 11 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674466866 8 107879354 TA T 329 PASS - - - - - Del - D 107879354 107879358 1 15 312.158 - - 3 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 2 10 4 121 86 121 86 10 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674468550 8 111059021 G GT 360 PASS - - - - - Ins - I 111059021 111059031 1 12 316.974 - - 9 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 1 5 3 7 77 134 78 135 3 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674469080 8 112105032 CTG C 360 PASS - - - - - Del - D 112105032 112105051 2 12 320.587 - - 9 1 - - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 5 1 6 5 84 91 84 91 6 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674469216 8 112377149 G GT 540 PASS - - - - - Ins - I 112377149 112377159 1 10 470.946 - - 9 1 - - - ./. 0 0 0 0 21 9 22 9 0 0 ./. 0 9 1 9 80 88 82 89 1 9 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674469661 8 113240275 AAT A 360 PASS CSMD3 CCDS6315.1 r.? - - Del intronic D 113240275 113240290 2 16 320.587 - - 7 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 3 5 5 99 129 99 129 5 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674471018 8 115997303 TAATG T 348 PASS - - - - - Del - D 115997303 115997312 4 40 642.378 - - 2 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 9 3 5 2 128 179 133 181 10 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674471215 8 116424551 GCA G 449 PASS TRPS1 CCDS6318.2 r.6188_6189delUG c.? p.? Del 3'UTR variant D 116424551 116424568 2 16 427.65 - - 8 1 1 TRPS1|CCDS6318.2|r.6188_6189delUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TRPS1|CCDS6318.2|r.6188_6189delUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 7 2 7 91 110 91 110 2 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674471568 8 117069441 AAG A 360 PASS AF130342.1 ENST00000505156 r.? - - Del intronic D 117069441 117069460 2 16 321.189 - - 9 1 - AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 4 3 71 71 71 71 4 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674471749 8 117379887 ACTT A 360 PASS - - - - - Del - D 117379887 117379906 3 15 321.189 - - 6 1 1 - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 4 2 4 3 58 77 58 77 4 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674472404 8 118789873 GGCCGCGACCCCGTCTGGGAACTGAGGAGTGCCTCTGCCCGGCGGCGACCCTGTCTGGGAACTGAGGAGTGTCTCTGCCCC G 555 PASS - - - - - Del - D 118789873 118789959 80 88 908.229 - - 1 1 1 - - ./. 0 0 0 0 11 2 11 2 0 0 ./. 10 7 0 0 63 40 73 47 10 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674473319 8 120515781 AG A 329 PASS - - - - - Del - D 120515781 120515783 1 7 305.535 - - 1 1 - - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 6 0 18 0 169 72 169 72 18 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674474060 8 121651303 AC A 325 PASS SNTB1 CCDS6334.1 r.? - - Del intronic D 121651303 121651306 1 48 642.378 - - 2 1 1 SNTB1|CCDS6334.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNTB1|CCDS6334.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 7 5 5 6 130 101 133 102 8 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674474257 8 122135872 C CTT 268 PASS - - - - - Ins - I 122135872 122135875 2 45 627.928 - - 2 1 1 - - ./. 0 0 0 0 12 11 12 12 0 0 ./. 4 8 3 9 81 146 85 147 4 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674474513 8 122596569 A AG 300 PASS - - - - - Ins - I 122596569 122596570 1 6 260.433 - - 0 1 - - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 0 5 2 13 78 123 79 124 2 13 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674474781 8 122968712 AT A 397 PASS - - - - - Del - D 122968712 122968714 1 20 370.506 - - 1 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 3 6 3 79 78 79 78 6 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674475083 8 123561460 TG T 600 PASS - - - - - Del - D 123561460 123561463 1 35 535.315 - - 2 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 6 5 8 47 90 47 90 5 8 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674475283 8 123943644 AAG A 329 PASS ZHX2 CCDS6336.1 r.? - - Del intronic D 123943644 123943659 2 12 316.974 - - 7 1 1 ZHX2|CCDS6336.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZHX2|CCDS6336.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 1 5 1 10 64 118 64 118 1 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674476157 8 125248866 A AT 689 PASS ENSG00000214803 ENST00000399016 r.? - - Ins intronic I 125248866 125248868 1 48 632.143 - - 1 1 1 ENSG00000214803|ENST00000399016|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000214803|ENST00000399016|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 19 5 19 0 0 ./. 7 5 8 10 60 135 61 137 8 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674477159 8 126704787 AG A 360 PASS - - - - - Del - D 126704787 126704789 1 7 319.985 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 0 7 0 72 76 72 76 7 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674477429 8 127309626 AAG A 540 PASS - - - - - Del - D 127309626 127309630 2 10 472.15 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 9 0 20 0 158 45 158 45 20 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674477550 8 127506074 TG T 269 PASS - - - - - Del - D 127506074 127506076 1 6 234.544 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 0 29 0 90 75 90 75 29 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674477877 8 128153295 T TG 449 PASS - - - - - Ins - I 128153295 128153302 1 24 422.833 - - 6 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 3 4 4 74 66 74 69 5 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674478386 8 128941462 TTA T 454 PASS PVT1 CCDS3617.1 r.? - - Del intronic D 128941462 128941466 2 10 479.977 - - 1 1 - PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC103705.2|ENST00000507144|r.3109_3110delUA|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 7 9 7 9 0 0 ./. 9 0 9 0 49 68 49 68 11 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674478617 8 129383125 TCCTTCCTTCCTTCCTTCCTTCCTC T 290 PASS - - - - - Del - D 129383125 129383153 24 32 534.11 - - 1 1 - - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 7 0 0 21 34 22 38 3 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674478648 8 129461994 TAGTC T 358 PASS - - - - - Del - D 129461994 129462002 4 20 374.72 - - 1 1 1 - - ./. 0 0 0 0 13 4 13 4 0 0 ./. 4 3 5 4 84 64 84 64 5 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674479037 8 130370663 CATTCTGTTT C 319 PASS AC013300.1 ENST00000446592 r.? - - Del intronic D 130370663 130370675 9 42 588.244 - - 1 1 1 AC013300.1|ENST00000446592|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC013300.1|ENST00000446592|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 6 5 7 6 61 60 61 60 7 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674480206 8 132608135 A AG 432 PASS - - - - - Ins - I 132608135 132608138 1 39 741.012 - - 2 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 2 12 6 8 108 118 109 124 6 13 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674480532 8 133393197 AAC A 360 PASS KCNQ3 CCDS34943.1 r.? - - Del intronic D 133393197 133393201 2 7 319.383 - - 1 1 1 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 6 0 14 0 66 64 66 64 14 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674480639 8 133613005 A AT 293 PASS LRRC6 CCDS6365.1 r.? - - Ins intronic I 133613005 133613006 1 49 635.153 - - 0 1 1 LRRC6|CCDS6365.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRC6|CCDS6365.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 6 8 6 126 80 126 80 8 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674480658 8 133661599 A AT 251 PASS LRRC6 CCDS6365.1 r.? - - Ins intronic I 133661599 133661600 1 27 529.294 - - 0 1 1 LRRC6|CCDS6365.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRC6|CCDS6365.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 8 2 8 3 155 114 156 114 9 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674481097 8 134598269 TGA T 420 PASS - - - - - Del - D 134598269 134598274 2 14 374.118 - - 2 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 1 6 2 10 60 102 60 102 2 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674481210 8 134812924 TTG T 360 PASS - - - - - Del - D 134812924 134812940 2 12 321.189 - - 7 1 - - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 1 12 3 279 63 279 63 12 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674482545 8 137670018 AG A 300 PASS - - - - - Del - D 137670018 137670020 1 6 262.841 - - 1 1 - - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 5 0 15 0 61 74 61 74 15 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674483333 8 139035693 G GA 480 PASS - - - - - Ins - I 139035693 139035703 1 21 423.435 - - 9 1 1 - - ./. 0 0 0 0 13 14 14 14 0 0 ./. 6 2 6 2 129 69 129 71 6 2 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674483465 8 139270113 AC A 300 PASS FAM135B CCDS6375.2 r.? - - Del intronic D 139270113 139270115 1 6 263.443 - - 1 1 1 FAM135B|CCDS6375.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM135B|CCDS6375.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 0 5 0 16 48 83 48 83 0 16 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674484250 8 141010726 G GA 266 PASS TRAPPC9 CCDS34946.1 r.? - - Ins intronic I 141010726 141010732 1 28 476.365 - - 5 1 1 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 6 3 5 1 65 120 68 122 7 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674485616 8 143390145 TCA T 480 PASS TSNARE1 CCDS6384.1 r.? - - Del intronic D 143390145 143390161 2 24 427.65 - - 7 1 1 TSNARE1|CCDS6384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSNARE1|CCDS6384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 5 4 6 78 150 78 150 4 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674485952 8 144061662 AAT A 449 PASS ENSG00000233536 ENST00000441886 r.? - - Del intronic D 144061662 144061678 2 24 425.843 - - 7 1 1 ENSG00000233536|ENST00000441886|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000233536|ENST00000441886|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 5 3 5 5 116 74 116 74 6 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674485995 8 144115570 TC T 298 PASS ENSG00000233536 ENST00000441886 r.? - - Del intronic D 144115570 144115572 1 7 307.943 - - 1 1 - ENSG00000233536|ENST00000441886|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000233536|ENST00000441886|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 6 0 21 0 113 66 113 66 21 0 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674486783 8 145288351 TC T 600 PASS HEATR7A CCDS47938.1 r.? - - Del intronic D 145288351 145288354 1 32 534.713 - - 2 1 1 HEATR7A|CCDS47938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HEATR7A|CCDS47938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 7 3 18 247 163 247 163 3 18 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674489477 9 8284731 A AT 480 PASS - - - - - Ins - I 8284731 8284733 1 24 427.063 - - 1 1 1 - - ./. 0 0 0 0 12 9 13 9 0 0 ./. 5 3 6 4 16 17 16 17 6 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674522154 X 6542103 G GA 300 PASS - - - - - Ins - I 6542103 6542113 1 12 266.201 - - 9 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 3 2 5 13 27 13 27 2 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674528195 X 35808760 G GA 480 PASS - - - - - Ins - I 35808760 35808768 1 21 426.885 - - 7 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 6 5 6 15 25 15 25 5 6 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674528527 X 37887110 CT C 431 PASS SYTL5 CCDS14244.1 r.? - - Del intronic D 37887110 37887113 1 9 425.079 - - 2 1 1 SYTL5|CCDS14244.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SYTL5|CCDS14244.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 0 8 7 11 24 26 24 26 7 11 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674532519 X 57580529 T TA 300 PASS - - - - - Ins - I 57580529 57580539 1 10 266.803 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 1 7 3 27 9 27 9 7 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674533990 X 69709132 AT A 480 PASS DLG3 CCDS14403.1 r.? - - Del intronic D 69709132 69709142 1 21 431.702 - - 9 1 - DLG3|CCDS14403.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG3|CCDS14403.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 20 11 20 0 0 ./. 6 2 9 4 26 16 26 16 9 4 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674536177 X 81059867 CT C 720 PASS - - - - - Del - D 81059867 81059877 1 40 647.553 - - 9 1 1 - - ./. 0 0 0 0 27 17 27 17 0 0 ./. 3 9 3 10 11 22 11 22 3 10 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674538804 X 93456652 TA T 300 PASS - - - - - Del - D 93456652 93456655 1 12 269.814 - - 2 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 4 3 18 19 18 19 4 3 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674539033 X 94789493 TTAA T 337 PASS - - - - - Del - D 94789493 94789500 3 15 323.776 - - 2 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 4 2 5 6 15 7 15 3 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674539256 X 95815199 AT A 420 PASS - - - - - Del - D 95815199 95815201 1 20 377.137 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 3 7 5 27 13 27 13 7 5 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674542132 X 112791241 CT C 540 PASS - - - - - Del - D 112791241 112791250 1 28 485.665 - - 8 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 6 5 7 11 23 11 23 5 7 1 1 1 1 1 1 1 1 2586488 PD11354a PD11354b 2674544160 X 120990850 TC T 360 PASS - - - - - Del - D 120990850 120990852 1 15 323.776 - - 1 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 2 5 3 14 16 14 16 5 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730804858 1 12505749 G GA 660 PASS VPS13D CCDS30588.1 r.? - - Ins intronic I 12505749 12505758 1 40 580.609 - - 8 1 1 VPS13D|CCDS30588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS13D|CCDS30588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 7 4 12 5 47 20 48 20 12 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730807247 1 19851831 C CCT 267 PASS - - - - - Ins - I 19851831 19851832 2 12 304.654 - - 0 1 - - - ./. 0 0 0 0 7 7 8 7 0 0 ./. 5 1 2 0 33 30 34 30 7 1 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730807864 1 21617157 AC A 540 PASS ECE1 CCDS44082.1 r.? - - Del upstream D 21617157 21617162 1 30 480.462 - - 4 1 1 ECE1|CCDS44082.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ECE1|CCDS44081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 4 9 5 30 21 30 21 9 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730809304 1 24995147 GTCCAAATGC G 667 PASS SRRM1 CCDS255.1 r.? - - Del intronic D 24995147 24995159 9 144 1226.04 - - 1 1 1 SRRM1|CCDS255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRRM1|CCDS255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 8 15 9 16 23 49 24 49 10 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730809964 1 27554695 AAG A 300 PASS - - - - - Del - D 27554695 27554699 2 6 265.117 - - 1 1 - - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 5 0 14 0 58 24 58 24 14 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730810235 1 28671341 CAATGCCAACTCT C 290 PASS - - - - - Del - D 28671341 28671354 12 32 522.408 - - 1 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 7 3 7 3 22 21 22 21 7 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730816026 1 50477910 G GA 780 PASS AGBL4 CCDS44137.1 r.? - - Ins intronic I 50477910 50477920 1 54 686.174 - - 9 1 1 AGBL4|CCDS44137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGBL4|CCDS44137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 19 9 19 0 0 ./. 8 5 10 7 33 15 33 15 10 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730816293 1 51900559 GTC G 1049 PASS EPS15 CCDS557.1 r.? - - Del intronic D 51900559 51900564 2 100 957.312 - - 2 1 1 EPS15|CCDS557.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPS15|CCDS557.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 9 9 19 11 63 33 63 33 19 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730816924 1 54396287 CCATTTATCTAACCCCACCAA C 290 PASS HSPB11 CCDS41341.1 r.? - - Del intronic D 54396287 54396308 20 20 533.847 - - 1 1 1 HSPB11|CCDS41341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HSPB11|CCDS41341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 22 9 22 0 0 ./. 9 1 10 1 36 23 36 23 10 1 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730817447 1 56121247 G GA 780 PASS - - - - - Ins - I 56121247 56121256 1 56 684.368 - - 8 1 - - - ./. 0 0 0 0 15 16 16 16 0 0 ./. 7 6 14 10 55 38 55 39 14 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730817495 1 56289927 G GA 509 PASS - - - - - Ins - I 56289927 56289932 1 10 475.044 - - 4 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 9 0 18 7 40 23 40 24 18 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730817791 1 57500561 GTTAC G 1287 PASS DAB1 CCDS607.1 r.? - - Del intronic D 57500561 57500568 4 150 1223.03 - - 1 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 9 14 11 16 33 52 33 52 11 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730818649 1 61202262 A AT 600 PASS - - - - - Ins - I 61202262 61202272 1 36 526.02 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 5 7 12 30 35 30 36 7 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730819998 1 65174715 ATGGTTTGGATTTGTGCCCCCCCTGCCTCCAAATCTCATGTCAAATTGTAATCCGCAATGTTGGAGGAGGGGCCTGGTGGGAAGTGATTGGATCATGGGGAAGATTTCCCCCTTGCTATTCTTATAATAGTGAGTGAGTTCTCACAAGATCTGGTTGTTTGAAAGTGTGTTGTACAGTACCTCCCCCTTTACTTGCTTCCTCCTGCTCCAGCCATGTAAGTTGTACCTGCTTCCCCTTTGCCTTCCACCATGATTGAAAGTTTCCTGAGGCCTCCCCAGCTATGCTTCCTGTGAGCCAATTAAACCTCTTTTCTTTATAAATTACCCAGTCTCAGGTATTTCTTTATAGCAGTGTGGGAATGGACTAATACAGTATCAAATTATCTCATTATTTTCAATAGTAAAAGTTCAGAAATGAGAAAATCATGAAGAATTGATTAAAGAAACTATTATGCAATTGAATACCTTGCAATCATTTAAAATTGTTTTTAAAGAGTATATAATTACATGGGGGAAATGTACAAAATGTAAGTTTTGAAAGGAATAAAAAATGTTTAAAACCAGATTTAAAAATATATAGACAGACCAATTTGCATAGGTAAAAAAGTAAAATGCAAATGGTAACAATGGCTTTTTGATTGTTGTGAATGTTACAGATATTTAAATTTTTCTCTATATGTCTTTGTTTTCCAAACTTGTAACAATGATTGTTATTGCTTTAGTAAAGAAAAAAAAAGTTATTTTACAATGTTATTTTGGACACATAGTGGGTTAGCCAGACAGACAATTTTTCTGGAAAGTTTCCCCAAACTCCCACCCTAAATCCACAGCTTCATGGAGGTAAC A 464 PASS - - - - - Del - D 65174715 65175561 844 77 854.155 - - 1 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 6 10 0 0 5 21 11 31 6 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730825739 1 85348503 T TA 600 PASS LPAR3 CCDS700.1 r.? - - Ins intronic I 85348503 85348513 1 32 526.622 - - 9 1 1 LPAR3|CCDS700.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LPAR3|CCDS700.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 15 18 0 0 ./. 3 7 7 8 29 39 29 39 7 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730826530 1 87789700 C CA 1260 PASS LMO4 CCDS713.1 r.? - - Ins upstream I 87789700 87789709 1 132 1107.23 - - 8 1 1 LMO4|CCDS713.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 LMO4|CCDS713.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 9 13 9 0 0 ./. 10 11 11 14 36 47 36 47 11 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730830260 1 100813856 AAG A 298 PASS CDC14A CCDS769.1 r.? - - Del upstream D 100813856 100813860 2 7 311.879 - - 1 1 - CDC14A|CCDS769.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CDC14A|CCDS769.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 0 14 0 56 14 56 14 14 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730830637 1 102207102 G GA 449 PASS - - - - - Ins - I 102207102 102207109 1 21 422.261 - - 6 1 1 - - ./. 0 0 0 0 19 5 21 5 0 0 ./. 6 2 9 3 35 17 35 17 9 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730830738 1 102604753 T TAC 360 PASS - - - - - Ins - I 102604753 102604767 2 15 311.879 - - 6 1 - - - ./. 0 0 0 0 5 4 6 4 0 0 ./. 4 2 0 1 23 33 23 33 4 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730831348 1 104394512 TTTAAG T 358 PASS - - - - - Del - D 104394512 104394521 5 65 847.532 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 12 5 15 20 39 20 39 5 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730831357 1 104429889 G GT 1227 PASS - - - - - Ins - I 104429889 104429898 1 144 1158.81 - - 8 1 1 - - ./. 0 0 0 0 20 7 20 7 0 0 ./. 11 11 17 15 38 48 38 48 17 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730833066 1 109816916 C CA 480 PASS CELSR2 CCDS796.1 r.9078_9079insa c.? p.? Ins 3'UTR variant I 109816916 109816919 1 24 421.057 - - 2 1 1 CELSR2|CCDS796.1|r.9078_9079insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 CELSR2|CCDS796.1|r.9078_9079insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 3 9 5 23 15 23 15 9 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730834279 1 114345514 CTTG C 716 PASS RSBN1 CCDS862.1 r.? - - Del intronic D 114345514 114345522 3 63 741.365 - - 2 1 1 RSBN1|CCDS862.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RSBN1|CCDS862.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 8 10 8 27 19 27 19 10 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730842870 1 155861102 A AC 358 PASS - - - - - Ins - I 155861102 155861107 1 8 317.701 - - 4 1 1 - - ./. 0 0 0 0 13 1 13 1 0 0 ./. 0 7 0 12 44 37 45 37 0 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730845391 1 164541486 TA T 900 PASS PBX1 CCDS1246.1 r.? - - Del intronic D 164541486 164541490 1 60 800.168 - - 3 1 1 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 2 17 2 0 0 ./. 11 4 16 10 66 31 66 31 16 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730849464 1 178896981 GT G 360 PASS - - - - - Del - D 178896981 178896983 1 7 320.308 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 0 9 0 44 37 44 37 9 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730850809 1 182351297 TTAA T 538 PASS GLUL CCDS1344.1 r.3903_3905delUUA c.? p.? Del 3'UTR variant D 182351297 182351306 3 36 533.847 - - 2 1 1 GLUL|CCDS1344.1|r.3903_3905delUUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 GLUL|CCDS1344.1|r.3903_3905delUUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 5 8 7 40 40 40 40 8 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730851702 1 185687942 GTTTC G 1316 PASS - - - - - Del - D 185687942 185687950 4 168 1281.23 - - 1 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 11 13 15 16 37 53 37 54 15 17 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730854234 1 192831023 AT A 1140 PASS - - - - - Del - D 192831023 192831025 1 98 1007.69 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 6 13 13 20 48 62 48 62 13 20 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730856089 1 198809396 AG A 960 PASS - - - - - Del - D 198809396 198809398 1 80 851.144 - - 1 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 9 7 18 12 66 46 66 46 18 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730856141 1 199099704 T TA 1140 PASS - - - - - Ins - I 199099704 199099713 1 104 1001.06 - - 8 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 7 12 11 17 67 67 67 68 11 17 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730859382 1 209115573 A AAC 319 PASS - - - - - Ins - I 209115573 209115575 2 40 564.353 - - 0 1 - - - ./. 0 0 0 0 15 10 16 10 0 0 ./. 4 7 1 0 29 52 31 52 5 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730860471 1 212427055 C CC 418 PASS - - - - - Ins - I 212427054 212427056 1 9 421.659 - - 1 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 0 8 1 0 46 40 46 40 1 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730862426 1 219341073 TTTTCGTACC T 609 PASS - - - - - Del - D 219341073 219341084 9 120 1119.87 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 14 7 17 8 91 45 91 45 17 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730864539 1 226390747 AG A 300 PASS - - - - - Del - D 226390747 226390749 1 6 263.311 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 0 13 0 63 50 63 50 13 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730866420 1 232493488 T TA 929 PASS - - - - - Ins - I 232493488 232493498 1 77 844.522 - - 9 1 1 - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 10 6 17 7 82 38 82 39 17 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730868801 1 238988336 G GT 900 PASS - - - - - Ins - I 238988336 238988344 1 70 790.535 - - 7 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 9 9 12 51 46 51 47 9 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730869262 1 240300437 CAT C 509 PASS FMN2 CCDS31069.2 r.? - - Del intronic D 240300437 240300440 2 28 480.462 - - 1 1 1 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 6 3 12 3 46 28 46 28 12 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730869314 1 240359164 T TA 960 PASS FMN2 CCDS31069.2 r.? - - Ins intronic I 240359164 240359173 1 77 843.318 - - 8 1 1 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 18 11 19 0 0 ./. 10 6 14 10 66 41 67 41 14 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730870118 1 242275635 A ATG 296 PASS PLD5 CCDS1621.1 r.? - - Ins intronic I 242275635 242275637 2 20 362.254 - - 0 1 - PLD5|CCDS1621.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLD5|CCDS1621.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 4 2 0 20 59 22 59 5 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730870308 1 242706110 TA T 374 PASS - - - - - Del - D 242706110 242706118 1 18 373.693 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 2 6 6 39 19 39 19 6 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730873437 10 1813138 GA G 790 PASS - - - - - Del - D 1813138 1813148 1 80 855.893 - - 9 1 - - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 7 9 12 12 31 35 31 35 12 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730876073 10 8111432 TCA T 960 PASS GATA3 CCDS31143.1 r.1493-3_1493-2delca c.925-3_925-2delca p.? Del ess splice D 8111432 8111435 2 80 855.291 - - 1 1 1 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 9 11 9 27 28 27 28 11 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730876076 10 8114110 G GC 569 PASS GATA3 CCDS31143.1 r.? - - Ins intronic I 8114110 8114112 1 32 525.601 - - 1 1 1 GATA3|CCDS31143.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GATA3|CCDS31143.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 4 13 4 0 0 ./. 7 3 10 7 37 25 37 25 10 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730887079 10 42395477 TG T 1187 PASS - - - - - Del - D 42395477 42395479 1 126 1123.51 - - 1 1 1 - - ./. 0 0 0 0 374 41 406 57 0 0 ./. 8 13 13 14 176 293 216 345 13 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730888557 10 44484815 CT C 989 PASS - - - - - Del - D 44484815 44484817 1 78 911.343 - - 1 1 - - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 12 9 15 28 41 28 41 9 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730888846 10 45607346 GTC G 420 PASS - - - - - Del - D 45607346 45607351 2 20 372.497 - - 2 1 - - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 3 4 3 7 20 26 20 26 3 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730890696 10 54621417 A AT 1206 PASS - - - - - Ins - I 54621417 54621423 1 102 1113.88 - - 5 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 16 8 19 32 49 32 50 8 19 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730891968 10 57832127 T TA 1649 PASS - - - - - Ins - I 57832127 57832134 1 176 1483.97 - - 6 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 21 7 26 9 64 26 65 26 26 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730897710 10 76699149 G GT 780 PASS MYST4 CCDS7345.1 r.? - - Ins intronic I 76699149 76699157 1 54 689.543 - - 7 1 1 MYST4|CCDS7345.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYST4|CCDS7345.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 8 5 13 10 36 34 36 34 13 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730901822 10 92436336 AT A 660 PASS - - - - - Del - D 92436336 92436341 1 40 590.082 - - 4 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 7 4 0 1 40 30 40 30 7 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730913230 10 130143057 G GT 660 PASS - - - - - Ins - I 130143057 130143067 1 40 583.46 - - 9 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 7 11 11 35 44 36 45 11 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730913664 10 131769836 T TG 300 PASS - - - - - Ins - I 131769836 131769845 1 12 262.199 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 1 0 18 18 19 18 4 2 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730915018 11 843532 A AC 600 PASS CD151 CCDS7719.1 r.? - - Ins downstream I 843532 843538 1 32 525.41 - - 5 1 1 CD151|CCDS7719.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TSPAN4|CCDS7721.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 6 18 6 0 0 ./. 7 3 12 2 33 19 33 20 12 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730923060 11 25726354 G GA 1260 PASS - - - - - Ins - I 25726354 25726363 1 120 1108.12 - - 8 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 7 14 10 18 30 50 30 50 10 18 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730924824 11 31974361 T TACAC 687 PASS - - - - - Ins - I 31974361 31974379 4 56 662.383 - - 8 1 - - - ./. 0 0 0 0 11 1 12 1 0 0 ./. 6 7 14 12 29 44 29 45 14 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730926356 11 37506582 GATA G 596 PASS - - - - - Del - D 37506582 37506586 3 48 643.617 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 7 5 13 26 37 26 37 5 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730931582 11 57170045 GAAACAAAC G 261 PASS SLC43A3 CCDS7956.1 r.? - - Del downstream D 57170045 57170073 8 30 482.562 - - 6 1 - SLC43A3|CCDS7956.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SLC43A3|CCDS7956.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 4 5 7 31 25 31 25 5 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730932711 11 61319246 AAC A 614 PASS SYT7 CCDS31577.1 r.? - - Del intronic D 61319246 61319252 2 42 586.922 - - 2 1 1 SYT7|CCDS31577.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYT7|CCDS31577.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 6 10 8 26 28 26 28 10 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730941000 11 91875813 CA C 1500 PASS - - - - - Del - D 91875813 91875815 1 126 1340.32 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 20 12 29 34 67 34 67 12 29 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730942459 11 97352492 GT G 840 PASS - - - - - Del - D 97352492 97352500 1 64 750.385 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 7 7 9 13 27 46 27 46 9 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730942593 11 97803251 ATT A 1105 PASS - - - - - Del - D 97803251 97803261 2 112 1120.16 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 15 7 16 29 55 29 55 7 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730943706 11 100712356 CA C 1020 PASS ENSG00000165895 CCDS44715.1 r.? - - Del intronic D 100712356 100712358 1 78 910.236 - - 1 1 1 ENSG00000165895|CCDS44715.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000165895|CCDS44715.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 5 12 8 18 27 37 27 37 8 18 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730948600 11 116863042 C CA 329 PASS SIK3 CCDS8379.1 r.? - - Ins intronic I 116863042 116863052 1 16 316.691 - - 9 1 1 SIK3|CCDS8379.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SIK3|CCDS8379.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 3 10 7 48 31 49 31 10 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730951222 11 125519841 T TTACTGAGATA 580 PASS CHEK1 CCDS8459.1 r.? - - Ins intronic I 125519841 125519849 10 112 953.287 - - 0 1 1 CHEK1|CCDS8459.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHEK1|CCDS8459.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 13 19 14 0 0 ./. 13 7 13 3 59 22 62 26 14 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730951795 11 127508867 G GA 1020 PASS - - - - - Ins - I 127508867 127508874 1 78 900.603 - - 6 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 12 7 16 21 46 21 46 7 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730960102 12 18358344 C CT 906 PASS - - - - - Ins - I 18358344 18358351 1 77 842.103 - - 6 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 10 6 13 10 40 27 40 27 13 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730961478 12 22335773 CCTA C 778 PASS - - - - - Del - D 22335773 22335777 3 60 750.989 - - 1 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 9 5 11 12 32 31 32 31 11 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730964664 12 32010296 AG A 360 PASS - - - - - Del - D 32010296 32010298 1 7 318.498 - - 1 1 1 - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 6 0 24 0 48 16 48 16 24 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730964807 12 32206808 TAATC T 985 PASS - - - - - Del - D 32206808 32206816 4 110 1018.81 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 10 9 12 14 29 30 29 30 12 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730965589 12 38235713 CAAAGG C 1014 PASS - - - - - Del - D 38235713 38235724 5 120 1070.09 - - 2 1 1 - - ./. 0 0 0 0 21 14 21 14 0 0 ./. 11 9 15 10 42 35 42 36 15 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730971658 12 59762536 T TGA 298 PASS - - - - - Ins - I 59762536 59762555 2 15 302.242 - - 9 1 - - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 2 5 4 29 26 29 26 6 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730973399 12 66001891 ATTACATAAAAGCATTGAGATTTGAAGGCTATTTATTCTTGTAGTAACCCTATCCCAACTAACAACAGAAAATTATACAAATAGTAAAAGAATTCAAGATAACATATT A 319 PASS - - - - - Del - D 66001891 66002002 107 30 589.934 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 9 0 0 32 13 34 22 2 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730976244 12 76494358 AAAAC A 629 PASS - - - - - Del - D 76494358 76494374 4 30 590.536 - - 3 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 9 2 11 3 36 20 36 20 11 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730977589 12 81546628 T TA 300 PASS ACSS3 CCDS9022.1 r.? - - Ins intronic I 81546628 81546635 1 10 264.813 - - 6 1 1 ACSS3|CCDS9022.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACSS3|CCDS9022.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 1 4 2 4 24 37 25 37 2 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730978030 12 83173804 A AC 360 PASS TMTC2 CCDS9025.1 r.? - - Ins intronic I 83173804 83173805 1 16 318.498 - - 0 1 1 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 18 0 0 ./. 3 3 0 0 28 27 30 27 3 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730980539 12 92995377 TG T 480 PASS - - - - - Del - D 92995377 92995379 1 9 422.256 - - 1 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 8 0 13 0 40 31 40 31 13 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730984839 12 107451889 T TA 780 PASS CRY1 CCDS9112.1 r.? - - Ins intronic I 107451889 107451898 1 54 690.079 - - 8 1 1 CRY1|CCDS9112.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CRY1|CCDS9112.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 8 5 9 6 42 35 42 35 9 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730989170 12 122997995 CTT C 1049 PASS RSRC2 CCDS9234.1 r.? - - Del intronic D 122997995 122997999 2 84 965.127 - - 3 1 1 RSRC2|CCDS9234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RSRC2|CCDS9234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 1 11 1 0 0 ./. 13 5 14 5 44 25 44 25 14 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730993423 13 19870393 C CA 1260 PASS - - - - - Ins - I 19870393 19870402 1 132 1117.15 - - 8 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 11 10 11 13 32 42 32 42 12 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730994326 13 21570483 AT A 780 PASS LATS2 CCDS9294.1 r.? - - Del intronic D 21570483 21570492 1 56 698.562 - - 8 1 1 LATS2|CCDS9294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LATS2|CCDS9294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 7 6 12 12 37 30 37 30 12 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2730996416 13 26724203 CAT C 300 PASS - - - - - Del - D 26724203 26724209 2 6 269.141 - - 2 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 0 5 0 1 33 58 33 58 0 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731005457 13 56750193 A AT 840 PASS - - - - - Ins - I 56750193 56750201 1 63 742.155 - - 7 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 6 8 8 11 34 35 34 35 8 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731016995 13 93864841 C CA 900 PASS - - - - - Ins - I 93864841 93864848 1 72 797.188 - - 6 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 7 8 8 10 33 32 33 32 8 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731017832 13 96260875 TACTCTGGGC T 899 PASS DZIP1 CCDS9478.1 r.? - - Del intronic D 96260875 96260888 9 252 1668.67 - - 1 1 1 DZIP1|CCDS9478.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DZIP1|CCDS9478.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 11 20 12 21 30 40 30 40 12 21 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731019907 13 102927610 CTT C 389 PASS FGF14 CCDS9500.1 r.? - - Del intronic D 102927610 102927614 2 18 370.175 - - 3 1 - FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 2 11 3 35 23 35 23 11 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731026449 14 27254489 A AG 1140 PASS - - - - - Ins - I 27254489 27254492 1 108 1008.85 - - 2 1 1 - - ./. 0 0 0 0 13 13 13 14 0 0 ./. 11 8 15 14 32 35 32 35 15 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731026727 14 28101024 CA C 1049 PASS - - - - - Del - D 28101024 28101029 1 99 968.239 - - 4 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 10 8 13 8 28 27 28 27 13 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731027150 14 29249841 A AT 1380 PASS C14orf23 ENST00000399387 r.? - - Ins intronic I 29249841 29249849 1 154 1223.68 - - 7 1 1 C14orf23|ENST00000399387|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C14orf23|ENST00000399387|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 14 14 0 0 ./. 10 13 16 14 47 43 47 43 16 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731029605 14 37326556 CAGGTGACCTTGCAGAGAG C 667 PASS SLC25A21 CCDS9663.1 r.? - - Del intronic D 37326556 37326578 18 154 1235.72 - - 1 1 1 SLC25A21|CCDS9663.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC25A21|CCDS9663.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 13 10 16 12 50 33 50 33 16 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731030341 14 39930340 CT C 987 PASS - - - - - Del - D 39930340 39930344 1 100 965.831 - - 3 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 9 9 13 13 32 35 32 35 13 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731031916 14 44914356 GA G 1169 PASS - - - - - Del - D 44914356 44914364 1 105 1077.16 - - 7 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 14 7 19 26 44 26 44 7 19 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731031958 14 45161346 TCTTTTAAAAAGAGAA TTAC 406 PASS - - - - - Complex - DI 45161347 45161361 15 39 0 - - 0 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 2 12 0 0 35 21 35 21 2 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731034016 14 51681748 A AAGTC 471 PASS - - - - - Ins - I 51681748 51681751 4 30 771.144 - - 0 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 14 1 0 0 24 62 40 65 14 1 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731038860 14 67567412 G GT 697 PASS GPHN CCDS9777.1 r.? - - Ins intronic I 67567412 67567414 1 49 639.071 - - 1 1 1 GPHN|CCDS9777.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPHN|CCDS9777.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 11 13 0 0 ./. 6 6 8 11 26 27 28 30 8 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731040363 14 73295004 CTATGGGGAGGAGAAGTGAGGACGTGGTCCCTGTCTCCA C 377 PASS DPF3 CCDS45133.1 r.? - - Del intronic D 73295004 73295043 38 44 699.551 - - 1 1 1 DPF3|CCDS45133.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPF3|CCDS45133.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 10 3 3 1 33 13 40 15 10 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731041335 14 76231116 G GT 780 PASS TTLL5 CCDS32124.1 r.1913+1_1913+2insu c.1708+1_1708+2insT p.? Ins ess splice I 76231116 76231118 1 44 692.327 - - 1 1 1 TTLL5|CCDS32124.1|r.1913+1_1913+2insu|c.1708+1_1708+2insT|p.?|protein_coding:CDS:extended_cis_splice_site:insertion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000667:SO:CGPX03:SO:0001576 TTLL5|CCDS32124.1|r.1913+1_1913+2insu|c.1708+1_1708+2insT|p.?|protein_coding:CDS:extended_cis_splice_site:insertion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000667:SO:CGPX03:SO:0001576 ./. 0 0 0 0 14 18 14 19 0 0 ./. 10 3 11 7 41 21 43 21 11 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731044316 14 86176633 C CA 809 PASS - - - - - Ins - I 86176633 86176640 1 63 739.562 - - 6 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 6 8 10 10 30 44 30 44 10 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731045025 14 88574052 GA G 1175 PASS - - - - - Del - D 88574052 88574061 1 60 1126.8 - - 8 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 2 19 3 25 32 54 32 54 3 25 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731045834 14 91355267 GA G 960 PASS RPS6KA5 CCDS9893.1 r.? - - Del intronic D 91355267 91355271 1 72 858.717 - - 3 1 1 RPS6KA5|CCDS9893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPS6KA5|CCDS9893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 26 16 26 0 0 ./. 5 11 7 16 21 38 21 38 7 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731060986 15 53663211 TA T 1140 PASS - - - - - Del - D 53663211 53663216 1 104 1024.22 - - 4 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 12 7 18 9 66 21 66 21 18 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731062685 15 58625367 GGT G 809 PASS - - - - - Del - D 58625367 58625371 2 60 749.874 - - 1 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 9 10 10 17 23 17 23 10 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731063081 15 59826671 AC A 1177 PASS - - - - - Del - D 59826671 59826674 1 144 1291.95 - - 2 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 17 7 22 9 49 32 49 32 22 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731066870 15 71723119 A AG 269 PASS THSD4 CCDS10238.2 r.? - - Ins intronic I 71723119 71723120 1 12 252.073 - - 0 1 - THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 3 2 4 7 26 17 26 17 4 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731067351 15 73067537 G GA 1080 PASS ADPGK CCDS42057.1 r.? - - Ins intronic I 73067537 73067544 1 96 957.673 - - 6 1 1 ADPGK|CCDS42057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADPGK|CCDS42057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 7 11 9 19 37 47 38 49 9 19 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731069721 15 81007842 ATGAG A 985 PASS FAM108C1 CCDS45323.1 r.? - - Del intronic D 81007842 81007853 4 108 1023.02 - - 2 1 1 FAM108C1|CCDS45323.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM108C1|CCDS45323.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 8 11 13 13 27 37 27 37 13 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731071429 15 88035908 CA C 1289 PASS - - - - - Del - D 88035908 88035911 1 128 1185.94 - - 2 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 15 7 19 11 56 41 56 41 19 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731071463 15 88241905 GA G 279 PASS - - - - - Del - D 88241905 88241908 1 11 539.065 - - 2 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 0 10 2 0 48 30 48 49 2 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731074195 15 97959712 A AGT 356 PASS - - - - - Ins - I 97959712 97959717 2 11 525.217 - - 2 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 0 10 0 28 55 70 55 70 0 31 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731075266 15 101133776 GT G 360 PASS LINS1 CCDS10385.1 r.? - - Del intronic D 101133776 101133778 1 7 310.796 - - 1 1 1 LINS1|CCDS10385.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LINS1|CCDS10385.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 4 13 4 0 0 ./. 6 0 8 0 44 18 44 18 8 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731077700 16 6798122 A AT 900 PASS - - - - - Ins - I 6798122 6798131 1 60 800.095 - - 8 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 4 11 7 13 29 57 30 57 7 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731081655 16 17921872 G GA 869 PASS - - - - - Ins - I 17921872 17921881 1 72 799.493 - - 8 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 7 8 12 14 36 41 36 41 12 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731085072 16 29263344 AG A 658 PASS - - - - - Del - D 29263344 29263348 1 33 645.494 - - 3 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 10 2 15 5 36 19 36 19 15 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731094300 16 71303219 GA G 1049 PASS - - - - - Del - D 71303219 71303229 1 84 966.134 - - 9 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 13 5 18 6 30 14 30 14 18 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731100266 17 2120803 AC A 877 PASS SMG6 CCDS11016.1 r.? - - Del intronic D 2120803 2120805 1 66 805.645 - - 1 1 1 SMG6|CCDS11016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMG6|CCDS11016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 3 7 3 0 0 ./. 5 10 6 16 18 31 18 31 6 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731105197 17 16064870 CA C 1147 PASS NCOR1 CCDS11175.1 r.? - - Del intronic D 16064870 16064874 1 130 1118.63 - - 3 1 1 NCOR1|CCDS11175.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCOR1|CCDS11175.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 9 12 15 15 53 35 53 35 15 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731113633 17 44857974 CT C 591 PASS WNT3 CCDS11505.1 r.? - - Del intronic D 44857974 44857976 1 40 591.971 - - 1 1 1 WNT3|CCDS11505.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WNT3|CCDS11505.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 7 4 10 7 23 25 23 25 10 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731116133 17 52887656 CA C 840 PASS - - - - - Del - D 52887656 52887660 1 63 752.979 - - 3 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 8 8 11 42 27 42 27 8 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731117551 17 57515876 TC T 300 PASS - - - - - Del - D 57515876 57515878 1 6 259.718 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 0 6 0 38 37 38 37 6 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731118669 17 61577266 GT G 497 PASS ACE CCDS11637.1 r.? - - Del downstream D 61577266 61577271 1 18 484.832 - - 4 1 1 ACE|CCDS11637.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ACE|CCDS11637.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 17 6 17 0 0 ./. 8 1 14 7 33 24 33 24 14 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731119584 17 64662820 C CA 1200 PASS PRKCA CCDS11664.1 r.? - - Ins intronic I 64662820 64662826 1 120 1064.16 - - 5 1 1 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 9 11 14 13 39 37 40 37 14 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731120287 17 66327791 CT C 803 PASS ARSG CCDS11676.1 r.? - - Del intronic D 66327791 66327793 1 60 750.571 - - 1 1 1 ARSG|CCDS11676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARSG|CCDS11676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 9 5 20 7 51 17 51 17 20 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731131806 18 20528332 T TTTTA 1020 PASS RBBP8 CCDS11875.1 r.? - - Ins intronic I 20528332 20528360 4 90 873.859 - - 6 1 - RBBP8|CCDS11875.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBBP8|CCDS11875.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 9 8 16 12 56 60 56 60 16 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731134622 18 30778242 CTCTA C 689 PASS C18orf34 CCDS42424.1 r.? - - Del intronic D 30778242 30778254 4 45 647.015 - - 2 1 - C18orf34|CCDS42424.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C18orf34|CCDS42424.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 8 14 13 48 36 49 36 15 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731136282 18 38309402 A ATTTG 313 PASS - - - - - Ins - I 38309402 38309407 4 22 565.403 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 10 1 10 2 51 41 53 41 12 2 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731136621 18 39804201 TC T 300 PASS - - - - - Del - D 39804201 39804203 1 6 261.763 - - 1 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 5 0 12 0 41 31 41 31 12 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731150786 19 5598790 GAGGC G 1103 PASS SAFB2 CCDS32879.1 r.1994+10_1994+13delgccu c.1782+10_1782+13delgcct p.? Del splice region D 5598790 5598796 4 143 1186.78 - - 1 1 1 SAFB2|CCDS32879.1|r.1994+10_1994+13delgccu|c.1782+10_1782+13delgcct|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:deletion:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:0000159:SO:CGPX04:SO:0001627:SO:0001576 SAFB2|CCDS32879.1|r.1994+10_1994+13delgccu|c.1782+10_1782+13delgcct|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:deletion:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:0000159:SO:CGPX04:SO:0001627:SO:0001576 ./. 0 0 0 0 9 6 9 6 0 0 ./. 10 12 14 13 28 29 28 29 14 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731164158 19 44813382 CA C 254 PASS ZNF235 CCDS33048.1 r.? - - Del upstream D 44813382 44813386 1 13 647.335 - - 3 1 1 ZNF235|CCDS33048.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZNF235|ENST00000391957|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 22 7 22 0 0 ./. 12 0 0 1 28 50 40 50 12 1 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731169330 19 57106567 GA G 300 PASS ZNF71 CCDS12947.1 r.? - - Del upstream D 57106567 57106574 1 10 268.519 - - 6 1 1 ZNF71|CCDS12947.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ZNF71|CCDS12947.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 19 9 19 9 0 0 ./. 1 4 2 9 14 23 14 23 2 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731170146 2 14265 CT C 1016 PASS - - - - - Del - D 14265 14267 1 104 1014.78 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 7 12 10 15 22 40 22 40 10 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731173303 2 10919833 A AAG 277 PASS ATP6V1C2 CCDS1674.1 r.? - - Ins intronic I 10919833 10919834 2 12 257.573 - - 0 1 - ATP6V1C2|CCDS1674.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP6V1C2|CCDS1674.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 2 10 2 0 0 ./. 2 3 6 8 17 20 18 20 6 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731174505 2 15007106 AC A 1229 PASS - - - - - Del - D 15007106 15007108 1 126 1121.06 - - 1 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 8 13 11 18 39 60 39 60 11 18 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731176527 2 23231306 G GA 720 PASS - - - - - Ins - I 23231306 23231315 1 40 634.068 - - 8 1 1 - - ./. 0 0 0 0 14 16 15 16 0 0 ./. 3 9 10 11 28 50 28 50 10 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731176954 2 24393578 T TC 420 PASS ENSG00000186453 CCDS42659.1 r.? - - Ins upstream I 24393578 24393579 1 8 369.271 - - 0 1 - ENSG00000186453|CCDS42659.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ENSG00000186453|CCDS42659.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 10 7 10 7 0 0 ./. 0 7 7 10 33 40 33 40 7 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731180732 2 36241955 GC G 780 PASS - - - - - Del - D 36241955 36241958 1 56 693.53 - - 2 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 7 9 13 30 41 30 41 9 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731181445 2 38010533 T TA 298 PASS - - - - - Ins - I 38010533 38010534 1 16 317.034 - - 0 1 - - - ./. 0 0 0 0 13 4 14 4 0 0 ./. 3 3 0 0 23 32 24 32 3 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731184354 2 47695118 TTATTTAAAAAATTTTAAATTA T 638 PASS MSH2 CCDS1834.1 r.? - - Del intronic D 47695118 47695149 21 140 1175.7 - - 1 1 1 MSH2|CCDS1834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSH2|CCDS1834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 9 13 9 13 16 31 16 31 9 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731187053 2 58167749 AG A 540 PASS - - - - - Del - D 58167749 58167752 1 24 479.766 - - 2 1 1 - - ./. 0 0 0 0 17 5 17 5 0 0 ./. 2 7 12 17 29 41 29 41 12 17 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731189956 2 69513805 CATAAAT C 377 PASS - - - - - Del - D 69513805 69513816 6 44 693.53 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 10 3 12 20 34 20 34 3 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731191559 2 76644305 AAATCCCCTCACACATTTTGCTGGTG A 493 PASS - - - - - Del - D 76644305 76644331 25 84 907.294 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 6 11 6 8 26 30 26 33 6 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731197516 2 98901825 C CT 780 PASS VWA3B CCDS42718.1 r.? - - Ins intronic I 98901825 98901832 1 44 686.907 - - 6 1 1 VWA3B|CCDS42718.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VWA3B|CCDS42718.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 8 20 8 0 0 ./. 3 10 7 13 24 35 24 35 7 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731200352 2 109534057 C CA 1200 PASS EDAR CCDS2081.1 r.? - - Ins intronic I 109534057 109534059 1 120 1048.95 - - 1 1 1 EDAR|CCDS2081.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EDAR|CCDS2081.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 10 24 10 0 0 ./. 9 11 10 15 29 50 29 51 10 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731206015 2 129821265 TA T 689 PASS - - - - - Del - D 129821265 129821274 1 45 638.885 - - 8 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 8 8 21 20 54 20 54 8 21 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731206033 2 129908512 CA C 360 PASS - - - - - Del - D 129908512 129908522 1 16 320.647 - - 9 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 3 4 4 45 37 45 37 4 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731207523 2 133149983 AAG A 300 PASS - - - - - Del - D 133149983 133149987 2 6 263.593 - - 1 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 5 0 6 0 43 29 43 29 6 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731207872 2 134667499 G GTA 720 PASS - - - - - Ins - I 134667499 134667518 2 48 624.435 - - 9 1 - - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 7 5 10 11 53 61 55 62 11 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731209125 2 139966138 A ATG 795 PASS - - - - - Ins - I 139966138 139966150 2 42 780.544 - - 5 1 - - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 13 2 17 6 54 30 54 30 17 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731209564 2 141320523 TA T 877 PASS LRP1B CCDS2182.1 r.? - - Del intronic D 141320523 141320531 1 70 800.412 - - 7 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 9 6 14 12 33 33 33 33 14 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731213594 2 155043497 CA C 447 PASS GALNT13 CCDS2199.1 r.? - - Del intronic D 155043497 155043507 1 28 480.97 - - 9 1 1 GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 8 4 8 0 0 ./. 3 6 6 7 24 32 24 32 6 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731216905 2 167615883 GGAAA G 1072 PASS - - - - - Del - D 167615883 167615890 4 112 1068.22 - - 1 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 13 7 13 8 39 24 39 24 13 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731217437 2 169926651 TTGTC T 1229 PASS DHRS9 CCDS2231.1 r.627_630delUGUC c.? p.? Del 5'UTR variant D 169926651 169926660 4 130 1122.26 - - 2 1 1 DHRS9|CCDS2231.1|r.627_630delUGUC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 DHRS9|CCDS2231.1|r.627_630delUGUC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 9 22 9 22 0 0 ./. 12 9 19 11 49 35 49 35 19 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731217774 2 170787962 T TA 763 PASS UBR3 CCDS2238.2 r.? - - Ins intronic I 170787962 170787964 1 77 845.424 - - 1 1 1 UBR3|CCDS2238.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UBR3|CCDS2238.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 10 10 13 24 23 24 24 10 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731226222 2 200426583 G GCTCT 302 PASS - - - - - Ins - I 200426583 200426586 4 12 561.361 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 11 0 12 0 54 30 57 30 15 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731226867 2 202775673 C CA 757 PASS - - - - - Ins - I 202775673 202775683 1 54 686.907 - - 9 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 8 5 14 9 36 36 37 36 14 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731228940 2 209823266 A AT 685 PASS - - - - - Ins - I 209823266 209823276 1 55 737.94 - - 9 1 1 - - ./. 0 0 0 0 14 2 14 2 0 0 ./. 4 10 9 13 43 49 44 49 9 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731231479 2 218476694 ATAT A 987 PASS - - - - - Del - D 218476694 218476699 3 99 961.94 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 10 8 12 8 45 33 45 33 12 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731235457 2 231330038 TG T 958 PASS SP100 CCDS2477.1 r.? - - Del intronic D 231330038 231330042 1 88 906.09 - - 3 1 1 SP100|CCDS2477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SP100|CCDS2477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 7 10 11 13 26 36 26 36 11 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731241696 20 9809493 TTC T 660 PASS PAK7 CCDS13107.1 r.? - - Del intronic D 9809493 9809499 2 36 592.459 - - 2 1 1 PAK7|CCDS13107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PAK7|CCDS13107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 8 10 14 32 45 32 45 10 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731248387 20 31033219 ACTG A 989 PASS C20orf112 CCDS13202.1 r.3631_3633delCAG c.? p.? Del 3'UTR variant D 31033219 31033223 3 90 916.603 - - 1 1 1 C20orf112|CCDS13202.1|r.3631_3633delCAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 C20orf112|CCDS13202.1|r.3631_3633delCAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 7 21 7 21 0 0 ./. 8 9 11 17 29 46 29 46 11 17 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731253110 20 48791746 C CCT 267 PASS - - - - - Ins - I 48791746 48791747 2 15 302.47 - - 0 1 - - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 2 4 0 0 27 42 27 42 2 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731256190 20 59466402 TTG T 435 PASS - - - - - Del - D 59466402 59466422 2 16 430.387 - - 9 1 - - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 7 3 0 42 38 42 38 3 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731257311 21 9445169 GA G 326 PASS - - - - - Del - D 9445169 9445177 1 12 595.283 - - 7 1 1 - - ./. 0 0 0 0 56 43 56 43 0 0 ./. 11 0 13 0 214 171 214 171 13 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731258359 21 9885799 TC T 424 PASS - - - - - Del - D 9885799 9885804 1 13 647.594 - - 4 1 1 - - ./. 0 0 0 0 42 46 42 46 0 0 ./. 0 12 0 15 72 186 72 186 0 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731258576 21 9949052 AGT A 298 PASS ENSG00000227328 ENST00000416067 r.? - - Del intronic D 9949052 9949055 2 9 430.525 - - 1 1 1 ENSG00000227328|ENST00000416067|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000227328|ENST00000416067|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 32 20 32 0 0 ./. 8 0 18 0 84 56 84 56 18 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731260279 21 10961152 TC T 545 PASS TPTE CCDS33512.1 r.? - - Del intronic D 10961152 10961159 1 36 540.564 - - 6 1 1 TPTE|CCDS33512.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TPTE|CCDS33512.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 22 23 22 0 0 ./. 5 5 11 8 77 75 77 75 11 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731262653 21 18299865 G GA 960 PASS - - - - - Ins - I 18299865 18299874 1 80 856.233 - - 8 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 7 9 12 11 45 41 45 41 12 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731265077 21 24670652 AG A 300 PASS - - - - - Del - D 24670652 24670654 1 6 266.971 - - 1 1 1 - - ./. 0 0 0 0 2 8 2 8 0 0 ./. 5 0 19 0 52 22 52 22 19 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731265819 21 26712068 AAAAC A 1140 PASS - - - - - Del - D 26712068 26712084 4 104 1027.01 - - 3 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 7 12 14 15 47 33 47 33 14 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731266739 21 29097082 CTTTTTCCTA C 522 PASS - - - - - Del - D 29097082 29097095 9 84 972.896 - - 1 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 13 7 15 24 38 24 38 7 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731267071 21 30221681 C CA 298 PASS - - - - - Ins - I 30221681 30221691 1 12 318.679 - - 9 1 1 - - ./. 0 0 0 0 21 8 21 8 0 0 ./. 1 5 2 10 30 34 30 34 2 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731270367 21 40477683 AC A 269 PASS - - - - - Del - D 40477683 40477685 1 6 261.552 - - 1 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 0 7 0 56 18 56 18 7 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731270522 21 40867580 A AT 1440 PASS SH3BGR CCDS13666.1 r.? - - Ins intronic I 40867580 40867590 1 168 1281.34 - - 9 1 1 SH3BGR|CCDS13666.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SH3BGR|CCDS13666.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 11 13 18 20 55 55 56 55 18 20 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731276717 22 25972463 AT A 1108 PASS ADRBK2 CCDS13832.1 r.? - - Del intronic D 25972463 25972465 1 156 1244.06 - - 1 1 1 ADRBK2|CCDS13832.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADRBK2|CCDS13832.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 11 12 14 14 35 27 35 27 14 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731277031 22 26946017 C CCA 389 PASS TPST2 CCDS13839.1 r.? - - Ins intronic I 26946017 26946018 2 8 348.421 - - 0 1 1 TPST2|CCDS13839.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TPST2|CCDS13839.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 0 7 1 0 30 28 30 28 1 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731284935 3 627799 CT C 334 PASS - - - - - Del - D 627799 627806 1 24 428.248 - - 6 1 1 - - ./. 0 0 0 0 22 24 22 24 0 0 ./. 5 3 7 3 73 48 73 48 7 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731287885 3 9296641 G GGAAAGAAAGGGGAAAGAAAAAGA 300 PASS - - - - - Ins - I 9296641 9296642 23 12 198.418 - - 0 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 0 0 42 24 43 24 3 2 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731290436 3 18149431 T TA 540 PASS AC139618.1 ENST00000448265 r.? - - Ins intronic I 18149431 18149439 1 30 475.156 - - 7 1 1 AC139618.1|ENST00000448265|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC139618.1|ENST00000448265|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 4 7 5 23 16 23 16 7 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731291421 3 21949614 C CTATATATCTTTCTCTCTA 480 PASS - - - - - Ins - I 21949614 21949618 18 16 341.551 - - 0 1 - - - ./. 0 0 0 0 10 10 10 11 0 0 ./. 1 7 0 0 20 42 20 42 1 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731291825 3 23422303 A AT 1380 PASS UBE2E2 CCDS2637.1 r.? - - Ins intronic I 23422303 23422313 1 156 1213.15 - - 9 1 1 UBE2E2|CCDS2637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UBE2E2|CCDS2637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 12 11 18 12 40 32 40 32 18 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731297092 3 43004900 TTATGTATATGTATCTATTTACATATGTATATGTAAATAGATACATATACATAATA T 319 PASS - - - - - Del - D 43004900 43004969 55 36 582.82 - - 1 1 - - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 8 3 0 0 53 49 56 50 8 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731301202 3 58009861 C CT 840 PASS FLNB CCDS2885.1 r.? - - Ins intronic I 58009861 58009863 1 63 740.403 - - 1 1 1 FLNB|CCDS2885.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FLNB|CCDS2885.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 8 6 12 10 31 26 31 27 12 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731302334 3 61745045 TC T 600 PASS PTPRG CCDS2895.1 r.? - - Del intronic D 61745045 61745048 1 36 535.31 - - 2 1 1 PTPRG|CCDS2895.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRG|CCDS2895.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 5 5 10 8 18 32 18 32 10 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731311253 3 93908507 G GT 1380 PASS - - - - - Ins - I 93908507 93908515 1 126 1214.35 - - 7 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 17 6 21 8 57 20 58 20 21 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731318074 3 117842040 TG T 1080 PASS - - - - - Del - D 117842040 117842045 1 84 963.557 - - 4 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 13 10 21 32 61 32 61 10 21 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731318215 3 118330340 T TA 540 PASS - - - - - Ins - I 118330340 118330349 1 28 476.36 - - 8 1 1 - - ./. 0 0 0 0 14 21 14 22 0 0 ./. 6 3 13 11 48 39 48 40 13 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731318995 3 121012552 C CA 540 PASS STXBP5L CCDS43137.1 r.? - - Ins intronic I 121012552 121012559 1 30 475.758 - - 6 1 1 STXBP5L|CCDS43137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STXBP5L|CCDS43137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 4 15 6 31 32 31 32 15 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731324669 3 143571551 A AT 960 PASS SLC9A9 CCDS33872.1 r.? - - Ins upstream I 143571551 143571559 1 81 841.444 - - 7 1 1 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 21 9 21 9 0 0 ./. 8 8 12 13 41 32 41 32 12 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731325721 3 148009649 GTTCT G 418 PASS - - - - - Del - D 148009649 148009664 4 21 427.044 - - 3 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 2 6 7 11 26 39 26 39 7 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731326774 3 151182413 GC G 689 PASS - - - - - Del - D 151182413 151182416 1 48 642.372 - - 2 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 7 5 13 5 40 30 40 30 13 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731326833 3 151298426 AAACT A 538 PASS - - - - - Del - D 151298426 151298438 4 36 533.504 - - 2 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 5 12 14 26 32 26 32 12 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731329099 3 160435744 AG A 1109 PASS - - - - - Del - D 160435744 160435746 1 110 1002.64 - - 1 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 9 10 13 13 38 32 38 32 13 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731331380 3 168508568 G GT 360 PASS - - - - - Ins - I 168508568 168508578 1 16 316.971 - - 9 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 3 3 3 31 42 31 43 3 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731332908 3 173712566 GT G 929 PASS NLGN1 CCDS3222.1 r.? - - Del intronic D 173712566 173712572 1 77 855.291 - - 5 1 1 NLGN1|CCDS3222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NLGN1|CCDS3222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 10 13 13 25 33 25 33 13 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731334796 3 180598007 G GAT 689 PASS FXR1 ENST00000465551 r.? - - Ins intronic I 180598007 180598023 2 48 624.912 - - 7 1 1 FXR1|ENST00000465551|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FXR1|ENST00000465551|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 14 7 0 0 ./. 5 7 11 13 39 43 39 44 11 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731335775 3 184286680 TCC T 298 PASS EPHB3 CCDS3268.1 r.? - - Del intronic D 184286680 184286684 2 12 319.38 - - 3 1 - EPHB3|CCDS3268.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHB3|CCDS3268.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 5 2 9 11 26 11 26 2 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731335831 3 184399500 AAG A 269 PASS EIF2B5 ENST00000444495 r.? - - Del intronic D 184399500 184399504 2 6 267.655 - - 1 1 - EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 16 3 16 0 0 ./. 5 0 18 0 41 22 41 22 18 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731335954 3 184959262 A AT 1048 PASS EHHADH CCDS33901.1 r.? - - Ins intronic I 184959262 184959269 1 99 952.721 - - 6 1 1 EHHADH|CCDS33901.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EHHADH|CCDS33901.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 13 17 0 0 ./. 10 8 14 10 48 38 49 38 14 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731345182 4 16474116 GA G 929 PASS - - - - - Del - D 16474116 16474119 1 56 853.382 - - 2 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 13 3 23 4 53 17 53 17 23 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731349510 4 31397933 AAAATGTTCTCTT A 522 PASS - - - - - Del - D 31397933 31397947 12 75 963.442 - - 1 1 1 - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 4 14 4 14 18 49 19 50 5 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731350481 4 35098707 GTGTT G 898 PASS - - - - - Del - D 35098707 35098715 4 80 855.188 - - 1 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 7 9 12 11 35 30 35 30 12 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731352475 4 40853119 C CA 509 PASS APBB2 CCDS3837.1 r.? - - Ins intronic I 40853119 40853128 1 30 476.302 - - 8 1 1 APBB2|CCDS3837.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 APBB2|CCDS3837.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 14 19 0 0 ./. 4 5 13 10 38 26 38 32 13 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731352786 4 41813842 C CT 329 PASS - - - - - Ins - I 41813842 41813849 1 12 310.31 - - 6 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 1 5 0 1 23 35 23 39 1 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731354335 4 47826343 AAT A 300 PASS CORIN CCDS3477.1 r.? - - Del intronic D 47826343 47826347 2 6 265.214 - - 1 1 1 CORIN|CCDS3477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CORIN|CCDS3477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 0 6 0 19 38 19 38 6 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731354375 4 47928736 T TAAC 867 PASS - - - - - Ins - I 47928736 47928741 3 65 824.483 - - 1 1 1 - - ./. 0 0 0 0 14 8 15 9 0 0 ./. 4 12 4 13 22 45 22 45 4 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731366528 4 88133612 GTCCCAGCTACTCAGGGGACTGAGGTAGGAGGATCA G 348 PASS KLHL8 CCDS3617.1 r.? - - Del intronic D 88133612 88133650 35 45 641.692 - - 1 1 1 KLHL8|CCDS3617.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KLHL8|CCDS3617.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 6 15 6 0 0 ./. 8 4 5 2 28 24 31 26 8 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731367799 4 93241635 C CT 540 PASS GRID2 CCDS3637.1 r.? - - Ins intronic I 93241635 93241644 1 28 475.7 - - 8 1 1 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 3 6 9 12 38 38 39 38 9 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731377286 4 128448751 G GA 780 PASS - - - - - Ins - I 128448751 128448760 1 44 686.186 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 10 10 14 30 35 30 35 10 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731379916 4 137251368 AG A 300 PASS - - - - - Del - D 137251368 137251370 1 6 259.796 - - 1 1 - - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 0 17 0 62 25 62 25 17 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731381855 4 144177219 G GA 780 PASS - - - - - Ins - I 144177219 144177228 1 50 687.992 - - 8 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 9 4 12 8 44 31 44 31 12 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731387380 4 162782648 GGGAA G 300 PASS FSTL5 CCDS3802.1 r.? - - Del intronic D 162782648 162782659 4 10 267.623 - - 2 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 4 7 5 31 39 31 39 7 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731392426 4 177822257 T TTA 809 PASS - - - - - Ins - I 177822257 177822261 2 39 725.863 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 12 6 14 21 43 21 43 6 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731398309 4 190845878 T TA 289 PASS - - - - - Ins - I 190845878 190845885 1 24 476.302 - - 6 1 1 - - ./. 0 0 0 0 25 20 25 20 0 0 ./. 2 7 5 7 104 85 104 85 5 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731401284 5 8047273 T TG 685 PASS - - - - - Ins - I 8047273 8047276 1 64 739.924 - - 2 1 1 - - ./. 0 0 0 0 17 13 18 13 0 0 ./. 7 7 10 10 43 22 43 22 10 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731401297 5 8069345 CAATT C 1196 PASS - - - - - Del - D 8069345 8069353 4 143 1178.82 - - 1 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 10 12 14 16 34 37 34 37 14 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731406520 5 24348924 T TTC 658 PASS - - - - - Ins - I 24348924 24348926 2 45 623.126 - - 0 1 - - - ./. 0 0 0 0 14 14 14 15 0 0 ./. 4 8 6 10 15 42 15 42 6 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731408414 5 29653200 A ATG 540 PASS - - - - - Ins - I 29653200 29653214 2 24 471.408 - - 6 1 - - - ./. 0 0 0 0 27 10 27 10 0 0 ./. 2 7 6 8 30 47 30 47 6 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731411903 5 41283242 C CT 1109 PASS - - - - - Ins - I 41283242 41283252 1 108 998.205 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 8 11 12 15 39 47 39 47 12 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731413188 5 49917997 A AACT 261 PASS - - - - - Ins - I 49917997 49918001 3 10 465.99 - - 1 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 9 0 8 0 72 25 73 25 9 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731419135 5 72920657 T TA 658 PASS ENSG00000214944 CCDS47231.1 r.? - - Ins upstream I 72920657 72920658 1 49 608.074 - - 0 1 - ENSG00000214944|CCDS47231.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ENSG00000214944|CCDS47231.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 6 3 7 3 0 0 ./. 6 6 10 9 35 30 35 30 10 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731420757 5 78799562 AAG A 360 PASS HOMER1 CCDS43335.1 r.? - - Del intronic D 78799562 78799566 2 7 319.089 - - 1 1 - HOMER1|CCDS43335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HOMER1|CCDS43335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 0 7 0 49 18 49 18 7 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731422413 5 84486918 GC G 1440 PASS - - - - - Del - D 84486918 84486920 1 168 1284.18 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 11 13 19 21 40 51 40 51 19 21 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731424652 5 94728896 ACTTTAT A 435 PASS FAM81B CCDS43341.1 r.? - - Del intronic D 94728896 94728911 6 70 803.14 - - 2 1 1 FAM81B|CCDS43341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM81B|CCDS43341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 6 9 7 9 30 30 31 30 8 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731425165 5 96612329 TTC T 300 PASS - - - - - Del - D 96612329 96612333 2 12 260.087 - - 1 1 - - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 2 4 4 21 40 21 40 4 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731426607 5 101291639 G GA 660 PASS - - - - - Ins - I 101291639 101291647 1 30 580.982 - - 7 1 1 - - ./. 0 0 0 0 10 27 10 27 0 0 ./. 9 2 14 8 40 31 40 32 14 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731427944 5 105743468 G GTA 660 PASS - - - - - Ins - I 105743468 105743478 2 42 573.757 - - 4 1 - - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 6 9 12 43 44 43 44 9 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731428968 5 110156394 G GT 540 PASS - - - - - Ins - I 110156394 110156403 1 28 476.827 - - 8 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 6 3 12 4 33 36 33 37 12 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731433463 5 126398533 C CT 509 PASS - - - - - Ins - I 126398533 126398540 1 30 476.827 - - 6 1 1 - - ./. 0 0 0 0 17 8 18 8 0 0 ./. 5 4 6 4 27 29 27 30 6 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731433783 5 128304732 G GT 441 PASS SLC27A6 CCDS4145.1 r.? - - Ins intronic I 128304732 128304738 1 56 687.546 - - 5 1 1 SLC27A6|CCDS4145.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC27A6|CCDS4145.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 7 11 8 50 28 51 30 12 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731439071 5 151448070 CT C 1080 PASS - - - - - Del - D 151448070 151448074 1 91 963.286 - - 3 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 12 7 15 29 35 29 35 7 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731445326 5 172742497 TAATA T 536 PASS STC2 CCDS4388.1 r.4568_4571delUAUU c.? p.? Del 3'UTR variant D 172742497 172742506 4 40 588.207 - - 2 1 1 STC2|CCDS4388.1|r.4568_4571delUAUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 STC2|CCDS4388.1|r.4568_4571delUAUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 8 13 8 0 0 ./. 7 4 12 7 32 24 32 24 12 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731467563 6 57283361 AT A 334 PASS PRIM2 ENST00000425433 r.? - - Del intronic D 57283361 57283371 1 15 320.901 - - 9 1 1 PRIM2|ENST00000425433|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRIM2|ENST00000425433|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 4 2 5 3 81 62 81 62 5 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731469115 6 62263953 AT A 809 PASS - - - - - Del - D 62263953 62263955 1 60 750.174 - - 1 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 5 9 10 11 24 40 24 40 10 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731471370 6 69407321 T TA 997 PASS BAI3 CCDS4968.1 r.? - - Ins intronic I 69407321 69407330 1 60 900.69 - - 8 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 14 5 16 16 54 16 55 5 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731471854 6 70994354 C CA 449 PASS COL9A1 CCDS4971.1 r.? - - Ins intronic I 70994354 70994363 1 21 420.844 - - 8 1 1 COL9A1|CCDS4971.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL9A1|CCDS4971.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 6 4 11 27 38 27 38 4 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731472060 6 71762381 AG A 300 PASS - - - - - Del - D 71762381 71762383 1 6 257.082 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 0 5 0 39 22 39 22 5 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731472771 6 74293238 TC T 360 PASS - - - - - Del - D 74293238 74293240 1 7 303.441 - - 1 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 6 0 12 0 43 28 43 28 12 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731473848 6 77876802 TTTA T 834 PASS - - - - - Del - D 77876802 77876816 3 55 749.572 - - 4 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 10 4 13 17 29 17 29 4 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731480534 6 102836508 TGAAGAAATCA T 754 PASS - - - - - Del - D 102836508 102836519 10 195 1393.18 - - 1 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 14 12 16 13 37 42 37 42 16 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731481669 6 106709571 G GTA 689 PASS ATG5 CCDS5055.1 r.? - - Ins intronic I 106709571 106709575 2 49 627.955 - - 1 1 1 ATG5|CCDS5055.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATG5|CCDS5055.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 6 11 9 31 26 31 26 11 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731483336 6 111950096 TTG T 960 PASS - - - - - Del - D 111950096 111950102 2 65 856.739 - - 2 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 12 4 18 5 47 20 47 20 18 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731484194 6 115036306 C CTCTGACTTTCAGCCTA 261 PASS - - - - - Ins - I 115036306 115036326 16 28 395.558 - - 1 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 6 3 1 3 18 31 24 31 6 3 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731486458 6 122867982 ATAAGAG A 667 PASS SERINC1 CCDS5125.1 r.? - - Del intronic D 122867982 122867995 6 150 1232.43 - - 2 1 1 SERINC1|CCDS5125.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SERINC1|CCDS5125.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 4 18 4 0 0 ./. 9 14 9 22 33 55 33 55 9 22 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731486612 6 123320475 A AT 1529 PASS CLVS2 CCDS34525.1 r.? - - Ins intronic I 123320475 123320482 1 147 1375.12 - - 6 1 1 CLVS2|CCDS34525.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLVS2|CCDS34525.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 20 6 28 10 57 38 57 39 28 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731487426 6 127469642 TA T 989 PASS RSPO3 CCDS5135.1 r.? - - Del intronic D 127469642 127469650 1 90 908.517 - - 7 1 1 RSPO3|CCDS5135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RSPO3|CCDS5135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 2 13 2 0 0 ./. 8 9 10 13 23 42 23 42 10 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731491292 6 143011683 AC A 486 PASS - - - - - Del - D 143011683 143011685 1 30 482.255 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 5 8 10 30 32 30 32 8 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731498762 6 169498328 C CA 749 PASS - - - - - Ins - I 169498328 169498336 1 54 688.763 - - 7 1 1 - - ./. 0 0 0 0 16 19 16 20 0 0 ./. 5 8 9 11 29 23 30 23 9 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731501379 7 6522170 GT G 1031 PASS KDELR2 CCDS5351.1 r.? - - Del intronic D 6522170 6522175 1 100 957.151 - - 4 1 1 KDELR2|CCDS5351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KDELR2|CCDS5351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 9 9 10 14 32 39 32 39 10 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731501802 7 7773615 A AT 1018 PASS ENSG00000219545 ENST00000433511 r.? - - Ins intronic I 7773615 7773623 1 96 954.141 - - 7 1 1 ENSG00000219545|ENST00000433511|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000219545|ENST00000433511|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 11 15 15 26 35 27 36 15 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731501803 7 7783128 AT A 1237 PASS ENSG00000219545 ENST00000433511 r.? - - Del intronic D 7783128 7783136 1 126 1125.21 - - 7 1 1 ENSG00000219545|ENST00000433511|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000219545|ENST00000433511|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 10 2 10 0 0 ./. 8 13 11 13 45 32 45 32 11 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731506584 7 23542991 TTC T 720 PASS TRA2A CCDS5383.1 r.? - - Del downstream D 23542991 23542995 2 13 641.512 - - 1 1 1 TRA2A|CCDS5383.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TRA2A|CCDS5383.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 19 12 19 12 0 0 ./. 0 12 4 18 29 49 29 49 4 18 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731514213 7 49909840 C CA 331 PASS VWC2 CCDS5508.1 r.? - - Ins intronic I 49909840 49909847 1 48 633.686 - - 6 1 1 VWC2|CCDS5508.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VWC2|CCDS5508.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 7 5 10 12 36 40 36 40 10 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731515216 7 52951742 GGAGA G 838 PASS - - - - - Del - D 52951742 52951750 4 70 804.148 - - 3 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 9 6 12 8 31 31 31 31 12 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731515493 7 53688845 GAATGATTT G 348 PASS - - - - - Del - D 53688845 53688856 8 49 642.717 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 6 9 7 48 26 48 26 9 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731517370 7 57856216 T TA 1093 PASS - - - - - Ins - I 57856216 57856226 1 104 1003.54 - - 9 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 12 7 23 9 52 38 52 38 23 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731517864 7 61787544 TAATCGAATGAAATCATCACTG T 329 PASS - - - - - Del - D 61787544 61787569 21 26 696.928 - - 1 1 1 - - ./. 0 0 0 0 33 46 33 46 0 0 ./. 1 12 0 0 123 194 123 197 1 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731521194 7 69261524 AG A 300 PASS AUTS2 CCDS5539.1 r.? - - Del intronic D 69261524 69261526 1 6 266.845 - - 1 1 - AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 0 7 0 36 25 36 25 7 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731521214 7 69349227 GA G 1258 PASS AUTS2 CCDS5539.1 r.? - - Del intronic D 69349227 69349229 1 143 1177.01 - - 1 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 12 10 17 14 34 39 34 39 17 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731521876 7 71342644 TAA T 1169 PASS CALN1 CCDS47603.1 r.? - - Del intronic D 71342644 71342650 2 112 1071.6 - - 5 1 1 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 7 13 11 20 32 59 32 59 11 20 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731522761 7 74080881 A AT 1140 PASS GTF2I CCDS5573.1 r.? - - Ins intronic I 74080881 74080890 1 110 999.322 - - 8 1 1 GTF2I|CCDS5573.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GTF2I|CCDS5573.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 7 17 7 0 0 ./. 9 10 14 11 37 39 37 39 14 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731522858 7 75214184 TG T 300 PASS HIP1 CCDS34669.1 r.? - - Del intronic D 75214184 75214186 1 6 256.008 - - 1 1 1 HIP1|CCDS34669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HIP1|CCDS34669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 22 9 22 0 0 ./. 5 0 6 0 31 24 31 24 6 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731524851 7 81264976 TTTC T 1440 PASS - - - - - Del - D 81264976 81264986 3 144 1286.64 - - 3 1 1 - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 7 17 8 18 37 53 37 53 8 18 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731532782 7 108257964 GACTTGCAGAATTTGCATTTGAATTATCTAT G 452 PASS - - - - - Del - D 108257964 108257999 30 80 854.146 - - 1 1 1 - - ./. 0 0 0 0 21 8 21 8 0 0 ./. 7 9 5 4 27 40 29 44 7 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731539347 7 132277624 AT A 689 PASS PLXNA4 CCDS43646.1 r.? - - Del intronic D 132277624 132277628 1 45 642.115 - - 3 1 1 PLXNA4|CCDS43646.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLXNA4|CCDS43646.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 8 4 14 6 49 31 49 31 14 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731539786 7 133855900 TC T 300 PASS LRGUK CCDS5830.1 r.? - - Del intronic D 133855900 133855902 1 6 261.427 - - 1 1 1 LRGUK|CCDS5830.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRGUK|CCDS5830.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 12 3 12 0 0 ./. 5 0 9 0 77 30 77 30 9 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731540538 7 136404590 TAC T 420 PASS - - - - - Del - D 136404590 136404601 2 8 374.667 - - 5 1 - - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 7 0 13 4 42 18 42 18 13 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731544529 7 150375253 CTTCT C 485 PASS - - - - - Del - D 150375253 150375270 4 30 482.489 - - 4 1 - - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 4 5 7 37 34 37 34 5 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731547184 7 157711062 ACAT A 509 PASS PTPRN2 CCDS5949.1 r.? - - Del intronic D 157711062 157711070 3 18 481.285 - - 2 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 1 8 5 11 23 34 23 34 5 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731549252 8 4505809 GT G 720 PASS - - - - - Del - D 4505809 4505816 1 48 641.7 - - 6 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 5 14 8 48 45 48 45 14 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731553358 8 16032288 C CT 1020 PASS MSR1 CCDS5995.1 r.? - - Ins intronic I 16032288 16032298 1 84 898.038 - - 9 1 1 MSR1|CCDS5995.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MSR1|CCDS5995.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 6 11 16 13 49 59 49 59 16 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731556995 8 26856595 C CA 1080 PASS - - - - - Ins - I 26856595 26856601 1 84 945.693 - - 5 1 1 - - ./. 0 0 0 0 10 9 10 10 0 0 ./. 5 13 11 18 42 35 42 35 11 18 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731557348 8 27941662 TA T 337 PASS C8orf80 CCDS47833.1 r.? - - Del upstream D 27941662 27941668 1 7 314.83 - - 5 1 1 C8orf80|CCDS47833.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C8orf80|CCDS47833.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 10 11 10 0 0 ./. 0 6 0 6 26 30 26 30 0 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731559058 8 33546434 A AT 840 PASS - - - - - Ins - I 33546434 33546444 1 63 740.021 - - 9 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 8 6 13 12 36 36 36 37 13 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731559283 8 34636604 T TTA 329 PASS - - - - - Ins - I 34636604 34636620 2 15 314.83 - - 7 1 - - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 4 10 12 36 51 36 52 10 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731562649 8 51364846 C CA 1049 PASS SNTG1 CCDS6147.1 r.? - - Ins intronic I 51364846 51364854 1 75 955.326 - - 7 1 1 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 14 8 16 25 38 26 38 8 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731564115 8 57335029 T TA 397 PASS - - - - - Ins - I 57335029 57335038 1 18 371.516 - - 8 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 2 5 4 6 26 25 26 26 4 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731567285 8 71498671 TAA T 567 PASS TRAM1 CCDS6207.1 r.? - - Del intronic D 71498671 71498679 2 40 590.433 - - 7 1 1 TRAM1|CCDS6207.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAM1|CCDS6207.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 7 4 8 7 40 26 40 26 8 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731567414 8 71918982 T TA 929 PASS - - - - - Ins - I 71918982 71918990 1 80 849.179 - - 7 1 1 - - ./. 0 0 0 0 23 14 23 15 0 0 ./. 7 9 8 11 28 33 29 33 8 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731570010 8 82617060 G GA 1289 PASS ZFAND1 CCDS6232.1 r.? - - Ins intronic I 82617060 82617067 1 135 1166.42 - - 6 1 1 ZFAND1|CCDS6232.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFAND1|CCDS6232.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 8 14 13 16 35 46 35 46 13 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731571885 8 90379107 T TA 1078 PASS - - - - - Ins - I 90379107 90379114 1 104 1008.4 - - 6 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 7 12 12 15 40 39 40 40 12 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731574479 8 100110856 ACTC A 1167 PASS VPS13B CCDS6280.1 r.? - - Del intronic D 100110856 100110862 3 126 1125.99 - - 1 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 13 8 22 12 41 44 41 44 22 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731575634 8 104782804 C CA 540 PASS RIMS2 ENST00000504942 r.? - - Ins intronic I 104782804 104782814 1 30 477.061 - - 9 1 1 RIMS2|ENST00000504942|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RIMS2|ENST00000504942|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 5 6 6 26 25 26 25 6 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731576560 8 108475226 ATACTGTGT A 638 PASS ANGPT1 CCDS6306.1 r.? - - Del intronic D 108475226 108475235 8 108 1178.46 - - 1 1 1 ANGPT1|CCDS6306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANGPT1|CCDS6306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 17 5 23 5 51 19 51 19 23 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731577337 8 110966274 TG T 780 PASS - - - - - Del - D 110966274 110966279 1 56 697.784 - - 4 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 6 7 12 11 21 39 21 39 12 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731577607 8 112104058 A AC 540 PASS - - - - - Ins - I 112104058 112104059 1 30 456.591 - - 0 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 4 12 5 44 22 45 22 12 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731578009 8 113566109 AGTTTTAT A 348 PASS CSMD3 CCDS6315.1 r.? - - Del intronic D 113566109 113566119 7 48 644.109 - - 1 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 7 8 10 24 27 24 27 8 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731581676 8 126790598 AG A 660 PASS - - - - - Del - D 126790598 126790600 1 36 590.433 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 8 7 14 26 53 26 53 7 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731581988 8 127864723 GA G 840 PASS - - - - - Del - D 127864723 127864725 1 60 744.235 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 9 6 9 21 32 21 32 6 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731582959 8 131525754 AC A 300 PASS - - - - - Del - D 131525754 131525756 1 6 249.113 - - 1 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 5 0 10 0 24 33 24 33 10 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731583977 8 135767564 G GA 298 PASS - - - - - Ins - I 135767564 135767566 1 16 316.636 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 3 7 12 20 32 20 33 7 12 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731585290 8 140386525 ACCT A 509 PASS - - - - - Del - D 140386525 140386532 3 28 483.081 - - 2 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 3 8 5 29 28 29 28 8 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731586718 8 145825483 ACTTGTGTAC A 348 PASS ENSG00000147799 CCDS34971.1 r.? - - Del intronic D 145825483 145825495 9 49 642.905 - - 1 1 - ENSG00000147799|CCDS34971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000147799|CCDS34971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 6 6 6 6 27 22 27 22 7 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731591353 9 15627667 TG T 1072 PASS C9orf93 CCDS6481.1 r.? - - Del intronic D 15627667 15627669 1 99 966.966 - - 1 1 1 C9orf93|CCDS6481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9orf93|CCDS6481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 10 8 13 9 37 35 37 35 13 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731593289 9 22580148 C CT 780 PASS - - - - - Ins - I 22580148 22580156 1 56 684.952 - - 7 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 7 6 10 11 24 30 26 30 10 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731597806 9 37212023 CAAAAAAAAAAAAAAAAAAAAA C 261 PASS ZCCHC7 CCDS6608.2 r.? - - Del intronic D 37212023 37212063 21 30 471.743 - - 1 1 - ZCCHC7|CCDS6608.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZCCHC7|CCDS6608.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 8 3 8 0 0 ./. 5 4 4 4 34 10 35 10 5 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731603992 9 74938189 CT C 840 PASS - - - - - Del - D 74938189 74938193 1 60 745.93 - - 3 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 9 7 10 27 27 27 27 7 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731610078 9 98042862 C CA 898 PASS FANCC CCDS35071.1 r.? - - Ins intronic I 98042862 98042870 1 77 849.224 - - 7 1 1 FANCC|CCDS35071.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FANCC|CCDS35071.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 10 10 15 32 52 32 52 10 15 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731611348 9 103641906 CAATCAAGACTAACTAATTTTTTCAGAAAACCTTCA C 348 PASS - - - - - Del - D 103641906 103641943 35 13 645.045 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 12 0 8 0 33 20 37 20 12 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731618214 9 126895896 ATCTG A 569 PASS - - - - - Del - D 126895896 126895905 4 36 536.936 - - 2 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 5 5 6 6 42 27 42 27 6 6 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731619463 9 131155157 AT A 697 PASS URM1 CCDS48035.1 r.? - - Del downstream D 131155157 131155159 1 24 638.423 - - 1 1 1 URM1|CCDS48035.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MIR219-2|ENST00000385220|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 10 9 10 9 0 0 ./. 11 1 16 5 29 14 29 14 16 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731621519 9 137488926 TG T 1287 PASS - - - - - Del - D 137488926 137488930 1 150 1236.34 - - 3 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 9 14 12 17 24 57 24 57 12 17 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731623488 X 6041052 TA T 1529 PASS NLGN4X CCDS14126.1 r.? - - Del intronic D 6041052 6041062 1 180 1394.6 - - 9 1 1 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 9 17 15 21 34 56 34 56 15 21 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731624528 X 10880380 G GCTAC 836 PASS - - - - - Ins - I 10880380 10880385 4 65 820.424 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 12 4 14 4 46 47 47 47 14 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731625077 X 13672307 ATAAT A 989 PASS TCEANC CCDS48081.1 r.? - - Del intronic D 13672307 13672317 4 88 912.641 - - 2 1 1 TCEANC|CCDS48081.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TCEANC|CCDS48081.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 7 10 10 13 29 35 29 35 10 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731625865 X 17272858 G GA 720 PASS - - - - - Ins - I 17272858 17272866 1 48 636.992 - - 7 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 5 7 8 9 27 36 28 36 8 9 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731626187 X 19629443 G GT 389 PASS SH3KBP1 CCDS14193.1 r.? - - Ins intronic I 19629443 19629452 1 20 371.579 - - 8 1 - SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 22 21 22 0 0 ./. 3 4 11 7 32 25 32 25 11 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731626438 X 22216489 T TA 720 PASS PHEX CCDS14204.1 r.? - - Ins intronic I 22216489 22216491 1 24 634.584 - - 1 1 1 PHEX|CCDS14204.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PHEX|CCDS14204.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 11 1 14 4 30 20 30 20 14 4 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731627169 X 25158522 ATAT A 1109 PASS - - - - - Del - D 25158522 25158530 3 104 1020.01 - - 2 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 7 12 8 16 19 39 19 39 8 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731627783 X 28080144 A AT 1020 PASS - - - - - Ins - I 28080144 28080153 1 70 899.998 - - 8 1 1 - - ./. 0 0 0 0 24 10 24 11 0 0 ./. 13 4 21 13 57 47 57 47 21 13 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731629775 X 37876326 TTTG T 577 PASS SYTL5 CCDS14244.1 r.? - - Del intronic D 37876326 37876350 3 32 536.848 - - 7 1 - SYTL5|CCDS14244.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SYTL5|CCDS14244.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 7 8 11 29 37 29 37 8 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731630957 X 43492217 C CT 1140 PASS - - - - - Ins - I 43492217 43492224 1 110 1008.57 - - 6 1 1 - - ./. 0 0 0 0 15 11 16 11 0 0 ./. 10 9 12 11 18 31 18 31 12 11 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731632770 X 53799387 GC G 336 PASS - - - - - Del - D 53799387 53799390 1 18 482.561 - - 2 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 1 8 3 19 14 24 14 24 3 19 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731632937 X 54905042 A AT 268 PASS - - - - - Ins - I 54905042 54905044 1 18 477.744 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 8 1 16 1 58 54 59 54 16 1 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731634876 X 68099227 AG A 900 PASS - - - - - Del - D 68099227 68099232 1 72 803.465 - - 4 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 8 7 11 10 28 26 28 26 11 10 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731637278 X 80887339 AT A 1380 PASS - - - - - Del - D 80887339 80887349 1 156 1234.15 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 11 12 15 16 45 49 45 49 15 16 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731639412 X 90576751 CA C 1172 PASS - - - - - Del - D 90576751 90576758 1 135 1179.26 - - 6 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 8 14 13 18 35 39 35 39 14 18 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731640113 X 94305879 G GA 277 PASS - - - - - Ins - I 94305879 94305886 1 6 264.209 - - 6 1 - - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 0 5 1 0 26 17 26 17 1 5 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731642598 X 107770008 C CT 300 PASS COL4A5 CCDS35366.1 r.? - - Ins intronic I 107770008 107770018 1 10 258.189 - - 9 1 1 COL4A5|CCDS35366.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL4A5|CCDS35366.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 9 23 9 0 0 ./. 4 1 7 2 29 12 29 12 7 2 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731644619 X 118569117 T TA 476 PASS SLC25A43 CCDS14577.1 r.? - - Ins intronic I 118569117 118569125 1 35 530.827 - - 7 1 1 SLC25A43|CCDS14577.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC25A43|CCDS14577.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 6 5 14 16 42 16 42 5 14 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731645033 X 120185866 C CA 480 PASS GLUD2 CCDS14603.1 r.? - - Ins downstream I 120185866 120185876 1 24 420.447 - - 9 1 1 GLUD2|CCDS14603.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 GLUD2|CCDS14603.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 8 6 8 6 0 0 ./. 3 5 6 8 31 34 32 34 6 8 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731645636 X 122983474 AG A 300 PASS - - - - - Del - D 122983474 122983476 1 6 267.822 - - 1 1 - - - ./. 0 0 0 0 11 3 11 3 0 0 ./. 5 0 19 0 39 30 39 30 19 0 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731647034 X 128676913 GA G 1020 PASS OCRL CCDS35393.1 r.? - - Del intronic D 128676913 128676915 1 48 910.233 - - 1 1 1 OCRL|CCDS35393.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OCRL|CCDS35393.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 15 2 18 7 39 25 39 25 18 7 1 1 1 1 1 1 1 1 2662811 PD11378a PD11378b 2731652396 X 154872246 ATTC A 1287 PASS - - - - - Del - D 154872246 154872255 3 156 1232.94 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 12 11 17 15 40 51 40 51 17 15 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726218525 1 58247551 T TA 960 PASS DAB1 CCDS607.1 r.? - - Ins intronic I 58247551 58247553 1 80 850.271 - - 1 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 7 9 10 12 29 34 29 34 10 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726221236 1 67331699 TAAGA T 834 PASS WDR78 CCDS635.1 r.? - - Del intronic D 67331699 67331705 4 88 913.046 - - 1 1 1 WDR78|CCDS635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR78|CCDS635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 10 7 15 8 33 28 34 28 16 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726227142 1 88315439 GT G 900 PASS - - - - - Del - D 88315439 88315446 1 70 806.16 - - 6 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 9 6 12 9 26 32 26 32 12 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726228030 1 91575350 GT G 693 PASS - - - - - Del - D 91575350 91575355 1 78 913.046 - - 4 1 1 - - ./. 0 0 0 0 18 22 18 22 0 0 ./. 5 12 11 16 37 30 37 30 11 16 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726239474 1 147097312 GA G 720 PASS BCL9 CCDS30833.1 r.5574delA c.? p.? Del 3'UTR variant D 147097312 147097318 1 45 644.928 - - 5 1 1 BCL9|CCDS30833.1|r.5574delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 BCL9|CCDS30833.1|r.5574delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 6 12 6 12 0 0 ./. 8 4 9 7 17 29 17 29 9 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726239484 1 147141526 TCCCTTCAGCCCTTCAGCTCTGACAAACC T 290 PASS ACP6 CCDS928.1 r.? - - Del intronic D 147141526 147141555 28 35 536.838 - - 1 1 1 ACP6|CCDS928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACP6|CCDS928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 4 3 2 22 26 25 28 6 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726243098 1 158734362 TA T 420 PASS OR6N1 CCDS30905.1 r.? - - Del downstream D 158734362 158734365 1 14 376.208 - - 2 1 1 OR6N1|CCDS30905.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OR6N1|CCDS30905.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 18 13 18 0 0 ./. 1 6 3 8 36 37 36 37 3 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726244150 1 162487138 A AG 1080 PASS UHMK1 CCDS1239.1 r.? - - Ins intronic I 162487138 162487145 1 75 956.555 - - 6 1 1 UHMK1|CCDS1239.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UHMK1|CCDS1239.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 27 12 27 0 0 ./. 4 14 7 16 27 44 27 45 7 16 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726246258 1 170139959 TAGTGCTGC T 261 PASS METTL11B CCDS44275.1 r.? - - Del downstream D 170139959 170139972 8 28 483.696 - - 1 1 1 METTL11B|CCDS44275.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 METTL11B|CCDS44275.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 18 19 18 19 0 0 ./. 6 3 7 4 45 29 45 29 7 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726248123 1 177832394 C CA 300 PASS - - - - - Ins - I 177832394 177832403 1 10 265.108 - - 8 1 1 - - ./. 0 0 0 0 15 11 15 12 0 0 ./. 1 4 1 4 35 26 35 26 1 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726249601 1 182901603 A ATTAT 509 PASS C1orf14 CCDS30955.1 r.? - - Ins intronic I 182901603 182901634 4 28 462.022 - - 7 1 - C1orf14|CCDS30955.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C1orf14|CCDS30955.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 3 6 4 8 30 40 30 40 4 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726253471 1 196117053 ATATATTTTTTTTTTT A 319 PASS - - - - - Del - D 196117053 196117070 15 42 578.541 - - 1 1 - - - ./. 0 0 0 0 3 11 3 11 0 0 ./. 6 5 7 3 17 27 17 29 7 5 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726257518 1 209217131 G GA 1237 PASS - - - - - Ins - I 209217131 209217136 1 130 1115.98 - - 4 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 9 12 12 13 28 31 28 31 12 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726259549 1 215385135 ATATATC A 406 PASS KCNK2 CCDS41467.1 r.? - - Del intronic D 215385135 215385149 6 55 751.212 - - 2 1 1 KCNK2|CCDS41467.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNK2|CCDS41467.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 10 4 12 6 29 26 31 26 14 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726267312 1 240483209 A AT 1020 PASS FMN2 CCDS31069.2 r.? - - Ins intronic I 240483209 240483211 1 90 893.781 - - 1 1 1 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 12 21 12 0 0 ./. 9 8 15 14 36 32 36 32 15 14 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726269636 1 246666782 T TA 1102 PASS SMYD3 CCDS31083.1 r.? - - Ins intronic I 246666782 246666789 1 108 1009.7 - - 6 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 8 11 12 13 32 43 32 43 12 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726276831 10 15786512 TCTC T 780 PASS - - - - - Del - D 15786512 15786516 3 56 700.882 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 7 12 11 24 34 24 34 12 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726291710 10 65243466 AATGATATTGCTGCTGG ATATC 667 PASS - - - - - Complex - DI 65243467 65243482 16 156 0 - - 0 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 12 11 0 0 24 32 25 33 12 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726295855 10 77699728 CAAA C 807 PASS C10orf11 CCDS7351.1 r.? - - Del intronic D 77699728 77699732 3 70 808.71 - - 3 1 1 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 9 6 13 15 30 32 30 32 13 15 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726298550 10 87944149 CT C 1020 PASS GRID1 CCDS31236.1 r.? - - Del intronic D 87944149 87944152 1 90 916.538 - - 2 1 1 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 9 8 13 12 32 32 32 32 13 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726305337 10 110325284 C CGGGAAG 261 PASS - - - - - Ins - I 110325284 110325317 6 18 449.704 - - 5 1 - - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 8 1 6 1 42 20 44 20 8 1 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726309831 10 124521160 CT C 780 PASS - - - - - Del - D 124521160 124521162 1 44 700.882 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 10 6 15 27 36 27 36 6 15 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726312451 10 132788261 TG T 960 PASS - - - - - Del - D 132788261 132788264 1 81 860.216 - - 2 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 8 8 12 12 39 37 39 37 12 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726313824 11 1922377 T TA 1200 PASS - - - - - Ins - I 1922377 1922386 1 121 1059.33 - - 8 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 10 10 11 13 26 50 26 50 11 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726316425 11 9178458 GATATTCTTACTGTGAGAATTCCTGCAGAATAATAAATTCCTCCTATG GGAAGATATTCTTACT 360 PASS DENND5A CCDS31423.1 r.? - - Complex intronic DI 9178459 9178505 47 15 0 - - 0 1 1 DENND5A|CCDS31423.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 DENND5A|CCDS31423.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 14 13 15 15 0 0 ./. 2 4 0 0 27 25 28 25 2 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726325897 11 38008346 AAAGAAAGGAAAAGAAAAGAAAAG A 263 PASS - - - - - Del - D 38008346 38008372 23 21 430.353 - - 1 1 - - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 2 0 0 34 30 35 30 6 2 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726325908 11 38163230 T TGG 300 PASS - - - - - Ins - I 38163230 38163239 2 12 260.467 - - 8 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 2 0 1 21 24 21 24 3 2 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726329040 11 48068875 CAAGTA C 418 PASS PTPRJ CCDS7945.1 r.? - - Del intronic D 48068875 48068885 5 16 432.16 - - 1 1 1 PTPRJ|CCDS7945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRJ|CCDS7945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 12 24 12 0 0 ./. 7 1 8 3 38 19 38 19 8 3 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726332549 11 63528470 CGA C 1200 PASS C11orf95 CCDS44636.1 r.4474_4475delUC c.? p.? Del 3'UTR variant D 63528470 63528473 2 105 1077.99 - - 1 1 1 C11orf95|CCDS44636.1|r.4474_4475delUC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 C11orf95|CCDS44636.1|r.4474_4475delUC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 12 9 12 0 0 ./. 6 14 6 17 17 32 17 32 6 17 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726332761 11 64047830 A ATAAT 337 PASS GPR137 CCDS8066.1 r.? - - Ins upstream I 64047830 64047832 4 15 306.66 - - 0 1 - GPR137|CCDS8066.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 BAD|CCDS8065.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 4 10 4 0 0 ./. 4 2 4 4 57 44 57 44 6 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726334611 11 69468555 A AT 569 PASS CCND1 CCDS8191.1 r.3602_3603insu c.? p.? Ins 3'UTR variant I 69468555 69468557 1 35 534.179 - - 1 1 - CCND1|CCDS8191.1|r.3602_3603insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 CCND1|CCDS8191.1|r.3602_3603insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 6 4 9 62 56 62 56 4 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726337666 11 81671244 C CT 1320 PASS AP002802.1 ENST00000500502 r.? - - Ins intronic I 81671244 81671248 1 140 1175.19 - - 3 1 1 AP002802.1|ENST00000500502|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AP002802.1|ENST00000500502|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 9 13 11 21 19 32 20 32 11 21 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726338345 11 84823873 GC G 1200 PASS DLG2 CCDS44690.1 r.? - - Del intronic D 84823873 84823876 1 105 1079.19 - - 2 1 1 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 14 7 21 10 25 10 25 7 21 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726349547 11 129816163 AC A 720 PASS PRDM10 CCDS44771.1 r.? - - Del intronic D 129816163 129816165 1 24 639.209 - - 1 1 - PRDM10|CCDS44771.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRDM10|CCDS44771.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 1 11 3 16 10 28 10 28 3 16 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726355305 12 13095362 CTTCACTCTTTAAAAGGAATTCTGA C 377 PASS GPRC5D CCDS8658.1 r.? - - Del intronic D 13095362 13095387 24 56 701.258 - - 1 1 1 GPRC5D|CCDS8658.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPRC5D|CCDS8658.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 7 6 6 4 22 24 23 26 7 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726357620 12 20487389 C CT 929 PASS - - - - - Ins - I 20487389 20487399 1 72 843.357 - - 9 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 5 11 11 13 32 36 32 36 11 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726358752 12 23991768 C CT 420 PASS SOX5 CCDS8699.1 r.? - - Ins intronic I 23991768 23991778 1 8 365.883 - - 9 1 1 SOX5|CCDS8699.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SOX5|CCDS8699.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 6 6 7 0 0 ./. 7 0 11 0 25 7 25 8 11 0 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726360309 12 28693405 CA C 660 PASS CCDC91 CCDS8716.1 r.? - - Del intronic D 28693405 28693410 1 40 592.677 - - 4 1 1 CCDC91|CCDS8716.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC91|CCDS8716.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 4 7 6 7 28 28 28 28 6 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726360581 12 29484463 ATCT A 1378 PASS FAR2 CCDS8717.1 r.? - - Del intronic D 29484463 29484471 3 144 1295.74 - - 2 1 1 FAR2|CCDS8717.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAR2|CCDS8717.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 7 17 8 23 25 42 25 42 8 23 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726364770 12 46187513 C CATATTTATATATACACACACACACACATATATATCTCAGCAAGATATTCTACAT 420 PASS ARID2 CCDS31783.1 r.? - - Ins intronic I 46187513 46187518 54 20 150.346 - - 0 1 - ARID2|CCDS31783.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARID2|CCDS31783.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 4 0 0 35 31 35 31 3 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726371478 12 69496297 GT G 900 PASS - - - - - Del - D 69496297 69496306 1 72 808.032 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 8 7 13 11 39 29 39 29 13 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726372244 12 71696139 G GT 1080 PASS TSPAN8 CCDS8999.1 r.? - - Ins intronic I 71696139 71696146 1 99 960.969 - - 6 1 1 TSPAN8|CCDS8999.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TSPAN8|CCDS8999.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 8 10 10 12 28 38 28 38 10 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726376279 12 86132334 T TACAC 292 PASS - - - - - Ins - I 86132334 86132342 4 30 444.963 - - 3 1 - - - ./. 0 0 0 0 12 4 12 5 0 0 ./. 4 5 8 10 31 33 34 34 8 10 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726378841 12 94648641 AGC A 1200 PASS PLXNC1 CCDS9049.1 r.2961_2962delGC c.2961_2962delGC p.E987fs*7 Del frameshift D 94648641 94648644 2 105 1078.58 - - 1 1 1 PLXNC1|CCDS9049.1|r.2961_2962delGC|c.2961_2962delGC|p.E987fs*7|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PLXNC1|CCDS9049.1|r.2961_2962delGC|c.2961_2962delGC|p.E987fs*7|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 17 20 17 20 0 0 ./. 6 14 7 14 21 31 21 31 7 14 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726379845 12 97363725 GATC G 480 PASS - - - - - Del - D 97363725 97363734 3 24 431.914 - - 2 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 3 5 4 51 31 51 31 5 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726386395 12 120402419 ATATATATATATC A 290 PASS - - - - - Del - D 120402419 120402433 12 32 533.871 - - 1 1 - - - ./. 0 0 0 0 10 3 11 3 0 0 ./. 7 3 6 4 12 13 17 20 7 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726387108 12 122066275 TTAAGGCCCAGAGCACGCTGGGCCACAGTGG T 319 PASS ORAI1 ENST00000330079 r.? - - Del intronic D 122066275 122066306 30 42 593.881 - - 1 1 1 ORAI1|ENST00000330079|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ORAI1|ENST00000330079|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 5 3 5 18 25 21 26 6 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726391456 12 133679634 CTG C 960 PASS ZNF140 CCDS9282.1 r.? - - Del intronic D 133679634 133679638 2 72 863.827 - - 1 1 1 ZNF140|CCDS9282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF140|CCDS9282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 5 11 8 13 23 32 23 32 8 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726397903 13 35240130 C CA 960 PASS - - - - - Ins - I 35240130 35240136 1 80 855.714 - - 5 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 7 9 12 13 39 35 40 37 12 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726399648 13 40975771 GGCA G 809 PASS - - - - - Del - D 40975771 40975776 3 63 752.964 - - 1 1 1 - - ./. 0 0 0 0 5 17 5 17 0 0 ./. 6 8 8 9 25 30 25 30 8 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726407113 13 64131879 CT C 269 PASS - - - - - Del - D 64131879 64131884 1 10 266.206 - - 4 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 1 4 9 9 27 26 27 26 9 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726414508 13 88162247 AC A 540 PASS - - - - - Del - D 88162247 88162249 1 10 486.155 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 9 0 9 3 40 41 40 41 9 3 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726416409 13 93727253 GTAGGG GT 642 PASS - - - - - Complex - DI 93727254 93727258 5 117 0 - - 0 1 1 - - ./. 0 0 0 0 25 14 25 14 0 0 ./. 12 8 0 0 31 25 31 26 12 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726434120 14 53275064 CA C 1229 PASS - - - - - Del - D 53275064 53275066 1 120 1136.09 - - 1 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 7 14 10 20 26 45 26 45 10 20 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726437338 14 63573416 TC T 780 PASS KCNH5 CCDS45123.1 r.? - - Del upstream D 63573416 63573419 1 56 703.44 - - 2 1 1 KCNH5|CCDS45123.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KCNH5|CCDS45123.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 9 17 9 0 0 ./. 7 6 7 7 33 33 33 33 7 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726438044 14 65819449 CA C 449 PASS - - - - - Del - D 65819449 65819459 1 24 433.257 - - 9 1 1 - - ./. 0 0 0 0 10 22 10 22 0 0 ./. 3 5 4 15 13 40 13 44 4 15 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726439095 14 69715046 AAC A 1080 PASS - - - - - Del - D 69715046 69715050 2 100 974.225 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 9 9 10 11 34 28 34 28 10 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726440058 14 73217945 G GTA 1469 PASS DPF3 CCDS45133.1 r.? - - Ins intronic I 73217945 73217949 2 180 1323.82 - - 1 1 1 DPF3|CCDS45133.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPF3|CCDS45133.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 15 27 15 0 0 ./. 14 11 19 14 56 35 56 37 19 14 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726444333 14 86417454 G GA 1020 PASS - - - - - Ins - I 86417454 86417461 1 88 910.435 - - 6 1 1 - - ./. 0 0 0 0 21 5 21 5 0 0 ./. 10 7 12 9 33 34 33 34 12 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726444544 14 86880109 AG A 480 PASS - - - - - Del - D 86880109 86880114 1 24 433.257 - - 4 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 5 3 6 5 23 35 23 35 6 5 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726446017 14 91789763 AG A 1107 PASS CCDC88C CCDS45151.1 r.? - - Del intronic D 91789763 91789765 1 117 1082.54 - - 1 1 1 CCDC88C|CCDS45151.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC88C|CCDS45151.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 8 12 15 14 31 20 31 20 15 14 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726446271 14 92324496 C CTTCTT 263 PASS TC2N CCDS9897.1 r.? - - Ins intronic I 92324496 92324499 5 16 384.49 - - 0 1 - TC2N|CCDS9897.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TC2N|CCDS9897.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 7 1 6 1 23 31 23 31 9 1 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726446480 14 92772672 T TTA 300 PASS - - - - - Ins - I 92772672 92772686 2 12 264.765 - - 6 1 1 - - ./. 0 0 0 0 12 19 13 19 0 0 ./. 3 2 5 3 31 32 31 32 5 3 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726447813 14 96896844 GA G 353 PASS AK7 CCDS9945.1 r.? - - Del intronic D 96896844 96896847 1 12 324.34 - - 2 1 1 AK7|CCDS9945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AK7|CCDS9945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 1 5 1 7 23 28 23 28 1 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726447991 14 97416239 T TG 900 PASS ENSG00000225163 ENST00000435624 r.? - - Ins downstream I 97416239 97416246 1 70 802.723 - - 6 1 1 ENSG00000225163|ENST00000435624|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000225163|ENST00000435624|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 15 13 15 0 0 ./. 6 9 8 16 29 43 29 43 8 16 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726448004 14 97466004 TCAGCCTGGTAGGCTTCA T 261 PASS - - - - - Del - D 97466004 97466023 17 30 486.812 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 4 5 4 26 20 26 20 5 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726449691 14 103611386 AAT A 360 PASS - - - - - Del - D 103611386 103611392 2 7 324.943 - - 2 1 - - - ./. 0 0 0 0 15 23 16 23 0 0 ./. 6 0 1 0 64 62 65 63 7 0 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726460321 15 49304859 TG T 960 PASS SECISBP2L CCDS32234.1 r.1715delC c.1581delC p.T528fs*8 Del frameshift D 49304859 49304863 1 72 867.124 - - 3 1 1 SECISBP2L|CCDS32234.1|r.1715delC|c.1581delC|p.T528fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SECISBP2L|CCDS32234.1|r.1715delC|c.1581delC|p.T528fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 17 7 17 7 0 0 ./. 5 11 8 19 29 45 29 45 8 19 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726468371 15 72290906 C CCT 356 PASS MYO9A CCDS10239.1 r.? - - Ins intronic I 72290906 72290907 2 24 423.327 - - 0 1 - MYO9A|CCDS10239.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYO9A|CCDS10239.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 5 0 0 39 30 39 30 3 5 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726472723 15 88317344 AAAGTAT A 597 PASS - - - - - Del - D 88317344 88317352 6 130 1138.1 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 12 9 11 9 35 27 37 27 15 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726474912 15 95059857 CA C 780 PASS - - - - - Del - D 95059857 95059866 1 44 704.539 - - 8 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 10 3 12 6 37 19 37 19 13 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726480781 16 8920621 AGT A 1200 PASS PMM2 CCDS10536.1 r.? - - Del intronic D 8920621 8920624 2 120 1083.44 - - 1 1 1 PMM2|CCDS10536.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PMM2|CCDS10536.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 11 9 12 10 33 30 33 30 12 10 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726490555 16 33635829 TG T 264 PASS - - - - - Del - D 33635829 33635832 1 55 757.204 - - 2 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 10 5 14 47 62 47 62 5 14 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726492730 16 51027137 T TA 1080 PASS - - - - - Ins - I 51027137 51027138 1 100 964.26 - - 0 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 9 9 16 11 21 15 21 17 16 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726509448 17 21691077 G GT 1080 PASS - - - - - Ins - I 21691077 21691087 1 99 964.838 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 10 8 11 16 31 52 31 52 11 16 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726512715 17 36156382 GCCA G 277 PASS - - - - - Del - D 36156382 36156390 3 6 271.021 - - 2 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 0 1 0 18 26 22 26 5 0 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726518693 17 54173839 AG A 960 PASS - - - - - Del - D 54173839 54173842 1 65 867.267 - - 2 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 4 12 5 20 18 43 18 43 5 20 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726527552 17 79478647 CAT C 1020 PASS ACTG1 CCDS11782.1 r.441_442delAU c.367_368delAT p.M123fs*2 Del frameshift D 79478647 79478651 2 88 920.267 - - 1 1 1 ACTG1|CCDS11782.1|r.441_442delAU|c.367_368delAT|p.M123fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ACTG1|CCDS11782.1|r.441_442delAU|c.367_368delAT|p.M123fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 8 15 8 15 0 0 ./. 7 10 8 13 27 29 27 29 8 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726534875 18 21694215 A AAGGAGAAGGCGGGTGCGAGCTGAGCCCTTAACACCTGAGCAAAGGAGAGAACGCTGG 300 PASS TTC39C CCDS45839.1 r.? - - Ins intronic I 21694215 21694225 57 10 99.4185 - - 0 1 1 TTC39C|CCDS45839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC39C|CCDS45839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 16 12 0 0 ./. 4 1 0 0 26 26 26 26 4 1 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726538090 18 34313635 TTTTGATCCAGGAAGGAATAA T 783 PASS FHOD3 CCDS32816.1 r.? - - Del intronic D 34313635 34313658 20 210 1461.62 - - 1 1 1 FHOD3|CCDS32816.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FHOD3|CCDS32816.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 13 14 11 12 16 19 18 21 13 14 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726547280 18 66901163 CTT C 1440 PASS - - - - - Del - D 66901163 66901168 2 153 1300.22 - - 4 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 8 16 9 18 16 35 16 35 9 18 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726549460 18 73491104 TAGA T 958 PASS - - - - - Del - D 73491104 73491112 3 84 921.419 - - 2 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 11 10 14 25 40 25 40 10 14 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726549934 18 74713908 TCTAA T 1018 PASS MBP CCDS32846.1 r.? - - Del intronic D 74713908 74713916 4 99 974.416 - - 1 1 1 MBP|CCDS32846.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MBP|CCDS32846.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 8 10 11 12 29 25 29 25 11 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726550362 18 75837073 TA T 509 PASS - - - - - Del - D 75837073 75837078 1 30 471.554 - - 4 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 4 9 8 27 27 27 27 9 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726550606 18 76598347 ATCAGCGCCCCC A 377 PASS - - - - - Del - D 76598347 76598361 11 56 702.206 - - 1 1 1 - - ./. 0 0 0 0 22 9 22 9 0 0 ./. 6 7 6 7 21 14 21 15 6 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726552005 19 2820318 CG C 360 PASS ZNF554 CCDS42462.1 r.? - - Del intronic D 2820318 2820320 1 12 325.577 - - 1 1 1 ZNF554|CCDS42462.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF554|CCDS42462.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 1 5 4 7 18 16 18 16 4 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726555112 19 9262911 GA G 1000 PASS ZNF317 CCDS12210.1 r.? - - Del intronic D 9262911 9262913 1 91 976.732 - - 1 1 1 ZNF317|CCDS12210.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF317|CCDS12210.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 6 12 14 17 29 35 29 35 14 17 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726570856 19 53368768 T TATTATACATATATTTATATATATG 329 PASS ZNF28 CCDS33093.1 r.? - - Ins intronic I 53368768 53368782 24 12 238.881 - - 0 1 - ZNF28|CCDS33093.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF28|CCDS33093.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 5 1 0 0 17 25 23 26 5 1 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726576502 2 10901062 C CG 780 PASS ATP6V1C2 CCDS1674.1 r.? - - Ins intronic I 10901062 10901068 1 54 689.786 - - 5 1 1 ATP6V1C2|CCDS1674.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP6V1C2|CCDS1674.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 8 5 0 1 28 23 29 24 8 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726577325 2 13322346 TAGATGGGAAGCCTTTTGCAAGATATGAAAGCTGATAACTGCCTGCCAGGCCAGATACAGCTATGCCCAAAATAAACTCTGTGCCAACATCTCTTACTTCTTGGAGGCCTTGATGCCTCAAGTCCCATAAAGCTGTCTGATCCTGGTTCATGGATGAACCAGATAAATTAAAGACTTGAGTTAACTGGG T 348 PASS - - - - - Del - D 13322346 13322535 188 45 645.061 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 8 4 0 0 17 17 25 21 8 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726595139 2 75152575 G GT 960 PASS - - - - - Ins - I 75152575 75152585 1 77 848.041 - - 9 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 6 10 11 11 34 30 34 30 11 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726600666 2 95543144 T TCAGATGGG 266 PASS TEKT4 CCDS2005.1 r.? - - Ins downstream I 95543144 95543158 8 15 682.733 - - 1 1 1 TEKT4|CCDS2005.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TEKT4|CCDS2005.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 21 14 21 14 0 0 ./. 14 0 11 0 53 29 56 29 14 0 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726610178 2 135238069 A AT 1200 PASS TMEM163 CCDS2172.1 r.? - - Ins intronic I 135238069 135238072 1 121 1062.46 - - 2 1 1 TMEM163|CCDS2172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM163|CCDS2172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 11 21 11 0 0 ./. 10 10 13 12 20 18 21 18 13 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726610450 2 137146451 ATGAT AT 656 PASS - - - - - Complex - DI 137146452 137146455 4 56 0 - - 0 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 6 7 0 0 12 17 12 17 6 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726617681 2 166020889 CAA C 1260 PASS SCN3A CCDS33312.1 r.? - - Del intronic D 166020889 166020893 2 132 1128.86 - - 3 1 1 SCN3A|CCDS33312.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCN3A|CCDS33312.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 11 10 12 11 32 32 32 32 12 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726625467 2 192548271 C CAAA 987 PASS OBFC2A CCDS33352.1 r.? - - Ins intronic I 192548271 192548275 3 99 933.877 - - 3 1 1 OBFC2A|CCDS33352.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OBFC2A|CCDS33352.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 10 16 0 0 ./. 8 10 11 10 30 30 30 30 11 10 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726625724 2 193274942 AT A 660 PASS - - - - - Del - D 193274942 193274952 1 42 590.704 - - 9 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 6 5 12 7 36 25 36 25 12 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726629173 2 205493004 T TG 1020 PASS PARD3B CCDS42806.1 r.? - - Ins intronic I 205493004 205493005 1 88 903.602 - - 0 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 7 10 13 17 34 42 34 42 13 17 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726631755 2 213716830 CT C 540 PASS - - - - - Del - D 213716830 213716835 1 30 483.796 - - 4 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 4 5 5 8 17 28 17 28 5 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726638446 2 234124144 ATACGTG A 319 PASS ATG16L1 ENST00000431917 r.? - - Del intronic D 234124144 234124151 6 42 591.306 - - 1 1 1 ATG16L1|ENST00000431917|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ATG16L1|ENST00000431917|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 6 7 6 20 39 20 40 7 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726640941 2 243179729 CT C 261 PASS - - - - - Del - D 243179729 243179733 1 10 483.796 - - 3 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 0 9 0 11 35 32 35 32 0 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726648044 20 24887256 T TTA 448 PASS - - - - - Ins - I 24887256 24887257 2 40 636.127 - - 0 1 1 - - ./. 0 0 0 0 17 4 18 4 0 0 ./. 3 9 1 0 28 24 30 24 4 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726650738 20 31160019 G GT 1080 PASS C20orf112 ENST00000201961 r.? - - Ins intronic I 31160019 31160021 1 100 966.833 - - 1 1 1 C20orf112|ENST00000201961|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C20orf112|ENST00000201961|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 9 9 14 10 22 23 23 24 14 10 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726653298 20 41201337 AGTT A 1227 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 41201337 41201344 3 108 1193.73 - - 2 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 17 5 17 7 33 24 34 24 18 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726659761 20 61861414 A AC 300 PASS - - - - - Ins - I 61861414 61861420 1 6 261.942 - - 5 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 0 10 3 21 27 21 27 10 3 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726662598 21 10746785 CT C 600 PASS - - - - - Del - D 10746785 10746789 1 36 543.42 - - 3 1 1 - - ./. 0 0 0 0 30 37 30 37 0 0 ./. 5 5 10 7 70 79 70 79 10 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726664289 21 15057877 T TG 830 PASS - - - - - Ins - I 15057877 15057880 1 55 752.36 - - 2 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 10 8 13 25 34 25 34 8 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726667464 21 23676709 GTTCATAACAGCACTA G 551 PASS - - - - - Del - D 23676709 23676737 15 108 1030.69 - - 1 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 8 11 7 8 34 32 34 35 8 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726670027 21 30486554 T TA 509 PASS C21orf7 CCDS13584.1 r.? - - Ins intronic I 30486554 30486558 1 30 483.66 - - 3 1 1 C21orf7|CCDS13584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C21orf7|CCDS13584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 4 18 4 0 0 ./. 5 4 6 6 17 21 17 21 6 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726677715 22 22607073 TTGTACTTACATTCTG T 348 PASS - - - - - Del - D 22607073 22607097 15 13 656.402 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 12 0 12 0 31 15 31 15 12 0 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726679326 22 28946229 AATT A 1138 PASS TTC28 CCDS46678.1 r.? - - Del intronic D 28946229 28946233 3 120 1087.98 - - 1 1 1 TTC28|CCDS46678.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC28|CCDS46678.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 11 9 14 14 16 17 16 17 14 14 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726682482 22 41133497 T TG 540 PASS Z98048.1 ENST00000499213 r.? - - Ins intronic I 41133497 41133500 1 28 485.077 - - 2 1 1 Z98048.1|ENST00000499213|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 Z98048.1|ENST00000499213|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 6 3 7 5 12 12 12 12 7 5 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726695182 3 35867507 AT A 1320 PASS - - - - - Del - D 35867507 35867516 1 135 1183.23 - - 8 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 14 8 16 8 41 36 41 36 16 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726699233 3 51435619 ATATAT A 778 PASS RBM15B CCDS33764.1 r.? - - Del downstream D 51435619 51435631 5 63 753.73 - - 2 1 1 RBM15B|CCDS33764.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 VPRBP|ENST00000273612|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 6 8 12 8 27 26 27 26 12 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726699298 3 51872797 GTAAATATATA GC 435 PASS - - - - - Complex - DI 51872798 51872807 10 72 0 - - 0 1 1 - - ./. 0 0 0 0 24 22 24 22 0 0 ./. 8 7 0 0 38 34 38 34 8 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726699807 3 53883558 T TTA 269 PASS CHDH CCDS2873.1 r.? - - Ins upstream I 53883558 53883559 2 12 262.567 - - 0 1 1 CHDH|CCDS2873.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 IL17RB|CCDS2874.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 0 0 30 20 31 20 3 2 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726700398 3 56064119 TATATA T 1194 PASS ERC2 CCDS46851.1 r.? - - Del intronic D 56064119 56064127 5 150 1237.07 - - 1 1 1 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 14 9 16 10 26 20 26 20 16 10 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726700800 3 57242970 AGAGT A 629 PASS HESX1 CCDS2881.1 r.? - - Del intronic D 57242970 57242978 4 40 592.216 - - 1 1 1 HESX1|CCDS2881.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HESX1|CCDS2881.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 4 7 8 13 18 35 18 35 8 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726719523 3 122421058 GTTTCTT G 348 PASS PARP14 CCDS46894.1 r.? - - Del intronic D 122421058 122421074 6 48 644.248 - - 2 1 1 PARP14|CCDS46894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARP14|CCDS46894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 7 3 8 15 31 18 31 6 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726719798 3 123749616 A AT 1080 PASS - - - - - Ins - I 123749616 123749626 1 99 958.244 - - 9 1 1 - - ./. 0 0 0 0 15 23 15 24 0 0 ./. 10 8 13 9 39 32 39 32 13 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726724876 3 142698921 GGT G 269 PASS - - - - - Del - D 142698921 142698924 2 12 260.158 - - 1 1 - - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 3 6 17 17 17 17 3 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726724964 3 142955867 T TA 540 PASS - - - - - Ins - I 142955867 142955876 1 30 479.122 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 4 10 11 37 35 38 35 10 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726727033 3 150141117 TTAAG T 896 PASS TSC22D2 CCDS3149.1 r.? - - Del intronic D 150141117 150141124 4 88 915.243 - - 1 1 1 TSC22D2|CCDS3149.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSC22D2|CCDS3149.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 10 7 11 12 37 26 37 26 11 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726729471 3 159065349 C CT 1200 PASS SCHIP1 CCDS3186.1 r.? - - Ins intronic I 159065349 159065358 1 121 1064.72 - - 8 1 1 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 10 10 10 14 25 37 25 37 10 14 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726729786 3 160532289 ATGTATGTGTATATATATACACACACATATG A 360 PASS PPM1L CCDS33886.1 r.? - - Del intronic D 160532289 160532321 30 15 322.425 - - 1 1 - PPM1L|CCDS33886.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPM1L|CCDS33886.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 18 7 18 0 0 ./. 2 4 0 0 30 36 30 36 2 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726734949 3 177707260 AT A 1560 PASS - - - - - Del - D 177707260 177707264 1 192 1398.58 - - 3 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 15 11 18 13 28 28 28 28 18 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726736682 3 184540241 TA T 749 PASS VPS8 CCDS46971.1 r.? - - Del intronic D 184540241 184540247 1 56 699.892 - - 5 1 1 VPS8|CCDS46971.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 VPS8|CCDS46971.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 7 8 11 28 31 28 31 8 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726740011 3 194511846 CTTTTTTTTTTTTTTTTTTTTTTTT C 261 PASS - - - - - Del - D 194511846 194511890 24 18 477.918 - - 1 1 - - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 8 1 4 7 20 8 24 2 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726741278 4 38283 C CA 665 PASS - - - - - Ins - I 38283 38290 1 182 1329.94 - - 6 1 1 - - ./. 0 0 0 0 80 78 80 79 0 0 ./. 12 13 16 18 205 191 206 193 17 18 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726742790 4 4781205 CAG C 817 PASS - - - - - Del - D 4781205 4781211 2 63 750.182 - - 2 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 8 6 9 8 32 25 32 25 9 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726743245 4 6171986 TCACCACCACCACCACCATCACCACCACCATCACTGTCAACACCATCATAACCCTCTCCACCATCACCACCACTCTCCCCACCCTTCTCAC T 389 PASS JAKMIP1 CCDS47005.1 r.? - - Del intronic D 6171986 6172093 90 18 368.167 - - 1 1 - JAKMIP1|CCDS47005.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 JAKMIP1|CCDS47005.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 19 21 20 0 0 ./. 5 2 0 0 25 21 30 23 5 2 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726745163 4 12270787 A AAAG 298 PASS - - - - - Ins - I 12270787 12270790 3 16 304.735 - - 0 1 - - - ./. 0 0 0 0 15 12 16 12 0 0 ./. 3 3 4 3 21 17 21 17 4 3 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726755396 4 45143832 AAG A 1260 PASS - - - - - Del - D 45143832 45143840 2 130 1125.57 - - 3 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 9 12 11 13 25 37 25 37 11 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726759042 4 57777081 CT C 1140 PASS REST CCDS3509.1 r.592delU c.278delT p.E94fs*6 Del frameshift D 57777081 57777084 1 110 1021.59 - - 2 1 1 REST|CCDS3509.1|r.592delU|c.278delT|p.E94fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 REST|CCDS3509.1|r.592delU|c.278delT|p.E94fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 16 21 16 21 0 0 ./. 9 10 10 14 23 39 23 39 10 14 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726772906 4 103776518 TACA T 1078 PASS UBE2D3 CCDS3660.1 r.? - - Del intronic D 103776518 103776525 3 110 1022.19 - - 2 1 1 UBE2D3|CCDS3660.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 UBE2D3|CCDS3660.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 10 9 12 13 42 34 42 34 12 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726781775 4 135008470 TA T 544 PASS - - - - - Del - D 135008470 135008474 1 45 645.594 - - 3 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 8 9 11 25 32 25 32 9 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726787140 4 155023386 GAACA G 1049 PASS - - - - - Del - D 155023386 155023396 4 99 964.176 - - 2 1 1 - - ./. 0 0 0 0 26 20 26 20 0 0 ./. 10 8 13 11 29 33 29 33 13 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726791366 4 167521504 A AT 1260 PASS - - - - - Ins - I 167521504 167521513 1 132 1115.34 - - 8 1 1 - - ./. 0 0 0 0 26 15 26 15 0 0 ./. 10 11 14 12 32 36 33 36 14 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726797393 4 184989085 G GA 960 PASS - - - - - Ins - I 184989085 184989094 1 80 849.352 - - 8 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 9 7 13 13 32 35 32 36 13 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726810426 5 28237762 TC T 780 PASS - - - - - Del - D 28237762 28237769 1 56 692.742 - - 6 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 7 6 10 12 23 30 23 30 10 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726811084 5 29898197 CCT C 517 PASS - - - - - Del - D 29898197 29898204 2 18 485.01 - - 3 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 1 8 12 10 28 28 28 28 12 10 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726812002 5 32326329 AT A 1380 PASS - - - - - Del - D 32326329 32326333 1 150 1235.25 - - 3 1 1 - - ./. 0 0 0 0 23 12 23 12 0 0 ./. 9 14 18 19 33 43 33 43 18 19 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726814998 5 42319860 C CCG 957 PASS - - - - - Ins - I 42319860 42319861 2 80 839.963 - - 0 1 1 - - ./. 0 0 0 0 21 7 22 7 0 0 ./. 9 7 10 9 31 26 31 27 10 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726815941 5 50157188 GA G 449 PASS - - - - - Del - D 50157188 50157197 1 25 431.12 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 4 7 6 22 28 22 28 7 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726818756 5 58859687 CATAGAAA C 580 PASS PDE4D CCDS47213.1 r.? - - Del intronic D 58859687 58859697 7 120 1075.39 - - 1 1 1 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 11 9 11 11 46 36 46 36 11 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726818965 5 59940480 CAGGGTTTAGGGA C 812 PASS DEPDC1B CCDS3977.1 r.? - - Del intronic D 59940480 59940498 12 224 1508.32 - - 1 1 1 DEPDC1B|CCDS3977.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DEPDC1B|CCDS3977.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 22 16 22 0 0 ./. 13 15 13 14 36 36 36 37 13 15 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726821273 5 68443730 T TA 983 PASS - - - - - Ins - I 68443730 68443732 1 84 880.607 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 6 11 8 13 25 25 25 25 8 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726823517 5 77307033 C CT 660 PASS AP3B1 CCDS4041.1 r.? - - Ins intronic I 77307033 77307042 1 42 580.748 - - 8 1 1 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 6 5 9 9 31 30 31 30 9 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726825209 5 82673323 GT G 540 PASS - - - - - Del - D 82673323 82673325 1 30 485.009 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 5 6 7 39 32 39 32 6 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726825782 5 84638929 T TA 660 PASS - - - - - Ins - I 84638929 84638936 1 36 586.167 - - 6 1 1 - - ./. 0 0 0 0 13 13 14 13 0 0 ./. 3 8 7 9 28 36 28 37 7 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726834162 5 117411145 C CA 960 PASS ENSG00000230431 ENST00000438991 r.? - - Ins downstream I 117411145 117411152 1 80 851.402 - - 6 1 1 ENSG00000230431|ENST00000438991|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000230431|ENST00000438991|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 16 22 16 22 0 0 ./. 7 9 13 11 35 33 36 34 13 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726837727 5 131734249 TTCC T 934 PASS SLC22A5 CCDS4154.1 r.? - - Del downstream D 131734249 131734258 3 90 916.129 - - 2 1 1 SLC22A5|CCDS4154.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SLC22A5|CCDS4154.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 18 13 18 0 0 ./. 9 8 9 11 26 28 26 28 9 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726837856 5 132206541 G GT 600 PASS AFF4 CCDS4164.1 r.? - - Ins downstream I 132206541 132206547 1 32 531.675 - - 5 1 1 AFF4|CCDS4164.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 GDF9|CCDS4162.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 7 4 10 25 28 25 28 4 10 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726846438 5 164975741 C CA 1709 PASS - - - - - Ins - I 164975741 164975750 1 198 1541.13 - - 8 1 - - - ./. 0 0 0 0 25 17 25 17 0 0 ./. 8 21 16 24 44 51 44 51 16 24 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726858489 6 20747322 A AT 1020 PASS CDKAL1 CCDS4546.1 r.? - - Ins intronic I 20747322 20747332 1 90 903.804 - - 9 1 1 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 19 23 20 0 0 ./. 9 8 10 15 30 40 30 40 10 15 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726863040 6 32053501 TGATCTGAGCAGAGTCCAA T 348 PASS TNXB CCDS47407.1 r.3350+8_3350+25del18 c.3148+8_3148+25del18 p.? Del splice region D 32053501 32053523 18 48 646.479 - - 1 1 1 TNXB|CCDS47407.1|r.3350+8_3350+25del18|c.3148+8_3148+25del18|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:deletion:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:0000159:SO:CGPX04:SO:0001627:SO:0001576 TNXB|CCDS47407.1|r.3350+8_3350+25del18|c.3148+8_3148+25del18|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:deletion:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:0000159:SO:CGPX04:SO:0001627:SO:0001576 ./. 0 0 0 0 16 16 16 16 0 0 ./. 7 5 7 5 21 19 21 19 7 5 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726875398 6 69100954 GT G 360 PASS - - - - - Del - D 69100954 69100961 1 15 323.239 - - 6 1 - - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 2 7 9 17 24 17 24 7 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726880055 6 84695007 GCT G 300 PASS - - - - - Del - D 84695007 84695025 2 12 268.764 - - 8 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 2 4 2 44 34 44 34 4 2 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726880814 6 87952682 TAC T 1020 PASS ZNF292 CCDS47457.1 r.? - - Del intronic D 87952682 87952686 2 90 915.845 - - 1 1 1 ZNF292|CCDS47457.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF292|CCDS47457.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 24 11 24 0 0 ./. 9 8 16 13 35 32 35 32 16 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726884375 6 101188384 ATCTG A 1047 PASS ASCC3 CCDS5046.1 r.? - - Del intronic D 101188384 101188392 4 90 1022.99 - - 1 1 1 ASCC3|CCDS5046.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASCC3|CCDS5046.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 14 7 15 35 31 35 31 7 15 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726895531 6 141685012 GTAGA G 300 PASS - - - - - Del - D 141685012 141685029 4 10 269.366 - - 4 1 - - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 1 4 5 9 27 29 27 29 5 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726897370 6 149514767 C CA 540 PASS - - - - - Ins - I 149514767 149514777 1 30 478.237 - - 9 1 1 - - ./. 0 0 0 0 14 13 15 13 0 0 ./. 5 4 7 7 43 34 43 34 7 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726900870 6 159993529 A AT 420 PASS - - - - - Ins - I 159993529 159993531 1 20 372.898 - - 1 1 1 - - ./. 0 0 0 0 10 10 11 10 0 0 ./. 3 4 4 6 23 33 23 33 4 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726901638 6 162268401 C CA 840 PASS PARK2 CCDS5281.1 r.? - - Ins intronic I 162268401 162268408 1 48 745.797 - - 6 1 1 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 14 0 0 ./. 11 3 18 9 49 26 49 26 18 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726908620 7 12528554 G GGT 507 PASS - - - - - Ins - I 12528554 12528555 2 20 508.981 - - 0 1 1 - - ./. 0 0 0 0 16 13 17 14 0 0 ./. 1 9 0 0 31 31 31 32 1 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726908846 7 13319440 TTTG T 689 PASS - - - - - Del - D 13319440 13319452 3 48 646.9 - - 3 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 5 7 6 8 21 30 21 30 6 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726909502 7 15153025 TTTTTTTTTTTT TATATATATA 261 PASS - - - - - Complex - DI 15153026 15153036 11 30 0 - - 0 1 1 - - ./. 0 0 0 0 3 8 3 8 0 0 ./. 5 4 0 0 18 30 18 30 5 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726909847 7 16429553 A AT 420 PASS ISPD CCDS47550.1 r.? - - Ins intronic I 16429553 16429554 1 20 359.899 - - 0 1 - ISPD|CCDS47550.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ISPD|CCDS47550.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 7 3 7 0 0 ./. 3 4 8 12 24 35 24 35 8 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726914593 7 32253607 GA G 540 PASS PDE1C ENST00000396193 r.? - - Del intronic D 32253607 32253614 1 30 485.175 - - 6 1 1 PDE1C|ENST00000396193|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE1C|ENST00000396193|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 4 10 9 32 35 32 35 10 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726918878 7 46476891 AT A 360 PASS - - - - - Del - D 46476891 46476901 1 16 323.45 - - 9 1 1 - - ./. 0 0 0 0 20 27 20 27 0 0 ./. 3 3 6 6 37 43 37 43 6 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726925649 7 66203001 GT G 300 PASS RABGEF1 CCDS5535.1 r.? - - Del upstream D 66203001 66203010 1 10 261.715 - - 8 1 - RABGEF1|CCDS5535.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KCTD7|ENST00000451741|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 1 4 8 11 15 35 15 35 8 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726933755 7 94234624 TAA T 1229 PASS SGCE CCDS47642.1 r.? - - Del intronic D 94234624 94234627 2 126 1130.27 - - 2 1 1 SGCE|CCDS47642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCE|CCDS47642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 13 8 18 13 39 38 39 38 18 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726940520 7 116763550 T TA 1140 PASS ST7OT3 CCDS5770.1 r.? - - Ins intronic I 116763550 116763552 1 110 1012.82 - - 1 1 1 ST7OT3|CCDS5770.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ST7OT3|CCDS5770.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 15 13 0 0 ./. 10 9 17 11 36 26 36 26 17 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726940601 7 117233002 T TA 540 PASS CFTR CCDS5773.1 r.? - - Ins intronic I 117233002 117233004 1 24 479.757 - - 1 1 1 CFTR|CCDS5773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CFTR|CCDS5773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 14 22 14 0 0 ./. 2 7 5 11 23 29 23 29 5 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726941336 7 121083989 A ATATTCGGAATACAGAATATATTCCTATATTCTG 307 PASS - - - - - Ins - I 121083989 121084007 33 12 204.242 - - 0 1 1 - - ./. 0 0 0 0 17 24 17 24 0 0 ./. 5 1 0 0 46 63 47 63 5 1 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726946912 7 138112529 CA C 449 PASS - - - - - Del - D 138112529 138112534 1 21 430.665 - - 4 1 - - - ./. 0 0 0 0 7 21 7 21 0 0 ./. 2 6 5 8 22 28 22 28 5 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726952861 7 156347423 AC A 960 PASS - - - - - Del - D 156347423 156347425 1 80 847.482 - - 1 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 7 9 12 11 35 28 35 28 12 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726952943 7 156634034 GAAGA G 567 PASS LMBR1 CCDS5945.1 r.? - - Del intronic D 156634034 156634042 4 40 592.992 - - 1 1 1 LMBR1|CCDS5945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMBR1|CCDS5945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 7 4 8 4 23 19 23 19 8 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726956525 8 9395004 TCTATC T 408 PASS - - - - - Del - D 9395004 9395011 5 56 700.528 - - 1 1 - - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 6 0 0 21 16 21 16 7 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726964297 8 38927692 AG A 360 PASS ADAM9 CCDS6112.1 r.? - - Del intronic D 38927692 38927694 1 7 322.117 - - 1 1 - ADAM9|CCDS6112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM9|CCDS6112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 6 0 15 0 122 197 122 197 15 0 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726964413 8 39165328 AAG A 387 PASS - - - - - Del - D 39165328 39165332 2 9 390.154 - - 1 1 - - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 8 0 13 0 136 102 136 102 16 0 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726965607 8 42312771 TATATAGAGAGAGAG T 667 PASS SLC20A2 CCDS6132.1 r.? - - Del intronic D 42312771 42312787 14 150 1199.66 - - 1 1 - SLC20A2|CCDS6132.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC20A2|CCDS6132.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 14 9 1 0 79 60 79 60 15 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726965636 8 42374900 AAC A 300 PASS SLC20A2 CCDS6132.1 r.? - - Del intronic D 42374900 42374904 2 6 264.015 - - 1 1 1 SLC20A2|CCDS6132.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC20A2|CCDS6132.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 0 8 0 135 162 135 162 8 0 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726966316 8 47827306 CTGAGTAGTTTCAGGACATA C 356 PASS - - - - - Del - D 47827306 47827327 19 40 646.641 - - 1 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 9 1 7 5 26 7 28 3 9 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726968594 8 57256316 AT A 841 PASS - - - - - Del - D 57256316 57256326 1 90 910.657 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 9 8 13 12 24 40 24 40 13 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726973669 8 77548061 TA T 480 PASS - - - - - Del - D 77548061 77548069 1 25 431.094 - - 7 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 4 6 6 42 43 42 43 6 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726974912 8 81791035 GT G 1140 PASS ZNF704 CCDS34913.1 r.? - - Del upstream D 81791035 81791038 1 108 1011.81 - - 2 1 1 ZNF704|CCDS34913.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZNF704|CCDS34913.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 18 19 18 19 0 0 ./. 11 8 15 10 48 57 48 57 15 10 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726975119 8 82630186 TAA T 780 PASS ZFAND1 CCDS6232.1 r.? - - Del intronic D 82630186 82630191 2 54 699.926 - - 4 1 1 ZFAND1|CCDS6232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFAND1|CCDS6232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 8 5 12 8 54 45 54 45 12 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726976564 8 87896404 C CA 360 PASS - - - - - Ins - I 87896404 87896412 1 7 308.269 - - 7 1 - - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 0 6 1 1 35 26 35 27 1 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726976604 8 88120200 CTATT C 960 PASS - - - - - Del - D 88120200 88120206 4 81 862.188 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 8 8 14 14 32 35 32 35 14 14 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726981933 8 108014304 C CA 1258 PASS - - - - - Ins - I 108014304 108014314 1 140 1168.65 - - 9 1 1 - - ./. 0 0 0 0 22 24 22 24 0 0 ./. 13 9 16 12 28 50 28 50 16 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726984382 8 116742294 G GA 7477 PASS TRPS1 ENST00000422939 r.? - - Ins intronic I 116742294 116742302 1 3922 6650.35 - - 7 1 1 TRPS1|ENST00000422939|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TRPS1|ENST00000422939|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 25 19 25 0 0 ./. 73 52 93 78 191 166 193 169 93 78 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726985375 8 119468624 CT C 1140 PASS SAMD12 CCDS47913.1 r.? - - Del intronic D 119468624 119468627 1 98 1021.44 - - 2 1 1 SAMD12|CCDS47913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SAMD12|CCDS47913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 13 6 17 7 64 47 64 47 17 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726993574 9 332824 G GT 720 PASS DOCK8 CCDS6440.1 r.? - - Ins intronic I 332824 332831 1 48 640.076 - - 6 1 1 DOCK8|CCDS6440.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK8|CCDS6440.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 5 9 6 0 0 ./. 5 7 9 11 26 29 27 29 9 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2726996688 9 10057862 C CCA 449 PASS PTPRD CCDS43786.1 r.? - - Ins intronic I 10057862 10057863 2 16 416.081 - - 0 1 - PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 1 7 0 0 28 33 28 33 1 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727011506 9 75810514 C CT 749 PASS - - - - - Ins - I 75810514 75810523 1 54 692.914 - - 8 1 1 - - ./. 0 0 0 0 13 24 13 25 0 0 ./. 8 5 13 8 37 32 37 32 13 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727023108 9 117317568 CG C 307 PASS - - - - - Del - D 117317568 117317570 1 7 294.751 - - 1 1 1 - - ./. 0 0 0 0 2 8 2 8 0 0 ./. 6 0 12 0 24 11 24 11 12 0 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727034490 X 23999220 A ACT 720 PASS KLHL15 CCDS35217.1 r.? - - Ins downstream I 23999220 23999230 2 49 632.557 - - 4 1 1 KLHL15|CCDS35217.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 KLHL15|CCDS35217.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 20 11 20 0 0 ./. 6 6 7 8 21 32 21 32 7 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727040366 X 55715330 AT A 540 PASS - - - - - Del - D 55715330 55715333 1 30 486.459 - - 2 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 5 4 6 17 21 17 21 4 6 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727042625 X 73474168 TTC T 960 PASS - - - - - Del - D 73474168 73474178 2 80 864.079 - - 4 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 7 9 9 10 27 32 27 32 9 10 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727042845 X 74842038 AG A 404 PASS - - - - - Del - D 74842038 74842041 1 24 432.943 - - 2 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 3 5 4 5 23 33 23 33 4 5 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727046170 X 90349767 TA T 720 PASS - - - - - Del - D 90349767 90349771 1 40 649.414 - - 3 1 1 - - ./. 0 0 0 0 26 16 26 16 0 0 ./. 9 3 12 4 24 21 24 21 12 4 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727046366 X 91449927 C CT 780 PASS PCDH11X CCDS14461.1 r.? - - Ins intronic I 91449927 91449934 1 56 693.899 - - 6 1 1 PCDH11X|CCDS14461.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCDH11X|CCDS14461.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 24 14 24 0 0 ./. 6 7 8 11 31 32 31 32 8 11 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727046753 X 92975644 GA G 780 PASS - - - - - Del - D 92975644 92975651 1 44 703.532 - - 6 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 10 7 13 19 36 19 36 7 13 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727049321 X 104871661 GA G 960 PASS IL1RAPL2 CCDS14517.1 r.? - - Del intronic D 104871661 104871665 1 65 865.886 - - 3 1 1 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 12 4 13 8 36 29 36 29 13 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727053949 X 129749430 TA T 720 PASS - - - - - Del - D 129749430 129749435 1 48 648.812 - - 4 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 7 11 12 29 30 29 30 11 12 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727055005 X 135403068 A AC 360 PASS GPR112 CCDS35409.1 r.? - - Ins intronic I 135403068 135403076 1 16 320.493 - - 7 1 1 GPR112|CCDS35409.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPR112|CCDS35409.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 3 3 7 16 33 17 33 3 7 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727055363 X 137074461 AAC A 269 PASS - - - - - Del - D 137074461 137074465 2 12 250.119 - - 1 1 - - - ./. 0 0 0 0 21 5 21 5 0 0 ./. 2 3 0 0 25 18 25 18 2 3 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727056053 X 140969012 TGAG T 840 PASS MAGEC3 CCDS14676.1 r.? - - Del intronic D 140969012 140969028 3 64 757.65 - - 5 1 1 MAGEC3|CCDS14676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGEC3|CCDS14676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 7 7 10 8 26 23 26 23 10 8 1 1 1 1 1 1 1 1 2662709 PD6700a2 PD6700b2 2727057470 X 146471660 C CT 600 PASS - - - - - Ins - I 146471660 146471661 1 36 535.158 - - 0 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 5 8 10 27 21 27 21 8 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754787502 1 8505114 TA T 600 PASS RERE CCDS41243.1 r.? - - Del intronic D 8505114 8505122 1 35 537.253 - - 7 1 1 RERE|CCDS41243.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RERE|CCDS41243.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 6 4 11 4 28 12 28 12 11 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754788470 1 10840645 CGG C 480 PASS CASZ1 CCDS41246.1 r.? - - Del intronic D 10840645 10840651 2 21 429.802 - - 5 1 1 CASZ1|CCDS41246.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CASZ1|CCDS41246.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 6 2 7 3 25 19 25 19 7 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754790821 1 16979401 T TAA 365 PASS AL355149.1 ENST00000515775 r.? - - Ins intronic I 16979401 16979409 2 12 577.733 - - 7 1 1 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 19 28 20 0 0 ./. 11 0 16 0 70 44 72 45 16 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754791227 1 17751843 A AG 720 PASS RCC2 CCDS181.1 r.? - - Ins intronic I 17751843 17751850 1 45 637.478 - - 6 1 1 RCC2|CCDS181.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RCC2|CCDS181.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 17 0 0 ./. 8 4 11 9 23 28 23 29 11 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754795646 1 29238558 C CA 300 PASS EPB41 CCDS331.1 r.? - - Ins intronic I 29238558 29238568 1 12 265.616 - - 9 1 1 EPB41|CCDS331.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 EPB41|CCDS331.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 3 2 3 2 32 28 33 29 3 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754797297 1 34657681 TAG T 269 PASS C1orf94 CCDS381.1 r.? - - Del intronic D 34657681 34657686 2 10 265.616 - - 2 1 1 C1orf94|CCDS381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C1orf94|CCDS381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 1 5 3 20 22 20 22 5 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754802465 1 50642689 GCT G 300 PASS ELAVL4 CCDS44140.1 r.? - - Del intronic D 50642689 50642706 2 12 263.208 - - 8 1 - ELAVL4|CCDS44140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELAVL4|CCDS44140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 26 10 26 0 0 ./. 2 3 2 3 19 25 19 25 2 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754805632 1 61328801 TTTC T 389 PASS NFIA ENST00000371191 r.? - - Del upstream D 61328801 61328813 3 20 375.475 - - 3 1 1 NFIA|ENST00000371191|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 NFIA|ENST00000371191|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 4 6 9 33 30 33 30 6 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754812673 1 83028845 CTT C 540 PASS - - - - - Del - D 83028845 83028849 2 30 483.527 - - 3 1 1 - - ./. 0 0 0 0 9 22 9 22 0 0 ./. 5 4 8 5 25 21 25 21 8 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754814296 1 88420666 TTC T 300 PASS - - - - - Del - D 88420666 88420684 2 12 268.626 - - 8 1 - - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 3 2 20 20 20 20 3 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754819890 1 106080879 TTAA T 449 PASS - - - - - Del - D 106080879 106080888 3 24 429.802 - - 2 1 1 - - ./. 0 0 0 0 25 10 25 10 0 0 ./. 3 5 7 5 21 16 21 16 7 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754824618 1 142545514 CAT C 290 PASS ENSG00000238159 ENST00000426281 r.? - - Del downstream D 142545514 142545518 2 50 697.826 - - 1 1 1 ENSG00000238159|ENST00000426281|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000238159|ENST00000426281|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 60 42 60 42 0 0 ./. 9 4 9 4 64 69 64 69 9 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754829151 1 150940756 TCA T 360 PASS SETDB1 CCDS972.1 r.? - - Del downstream D 150940756 150940759 2 15 321.147 - - 1 1 1 SETDB1|CCDS972.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LASS2|CCDS973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 2 4 3 26 14 26 14 4 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754832529 1 160593979 G GA 300 PASS SLAMF1 CCDS1207.1 r.1051-5_1051-4insu c.701-5_701-4insT p.? Ins splice region I 160593979 160593989 1 12 265.616 - - 9 1 1 SLAMF1|CCDS1207.1|r.1051-5_1051-4insu|c.701-5_701-4insT|p.?|protein_coding:CDS:extended_intronic_splice_region:insertion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000667:SO:CGPX04:SO:0001576 SLAMF1|CCDS1207.1|r.1051-5_1051-4insu|c.701-5_701-4insT|p.?|protein_coding:CDS:extended_intronic_splice_region:insertion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000667:SO:CGPX04:SO:0001576 ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 3 2 35 29 35 29 3 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754833083 1 162210660 A ATG 720 PASS NOS1AP CCDS1237.1 r.? - - Ins intronic I 162210660 162210662 2 48 630.254 - - 0 1 1 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 7 5 7 6 26 24 26 24 7 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754833675 1 163838018 AG A 360 PASS - - - - - Del - D 163838018 163838020 1 15 322.352 - - 1 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 2 4 4 5 30 23 30 23 4 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754833739 1 164074610 G GA 629 PASS - - - - - Ins - I 164074610 164074618 1 42 583.151 - - 7 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 6 5 9 7 30 27 30 27 9 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754840881 1 185741707 GAAGAAATGTA G 551 PASS HMCN1 CCDS30956.1 r.? - - Del intronic D 185741707 185741718 10 104 1019.58 - - 1 1 1 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 12 7 12 9 29 23 29 23 12 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754842492 1 190154737 C CA 360 PASS FAM5C CCDS1373.1 r.? - - Ins intronic I 190154737 190154741 1 16 318.739 - - 3 1 1 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 22 17 23 0 0 ./. 3 3 5 4 37 29 37 31 5 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754843309 1 192569547 GA G 540 PASS - - - - - Del - D 192569547 192569556 1 30 483.527 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 5 6 8 21 25 21 25 6 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754849161 1 209212287 AAC A 300 PASS - - - - - Del - D 209212287 209212307 2 12 268.626 - - 9 1 - - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 3 2 3 2 29 20 29 20 3 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754850052 1 211655166 AAC A 300 PASS RD3 CCDS1498.1 r.? - - Del intronic D 211655166 211655183 2 12 268.626 - - 8 1 1 RD3|CCDS1498.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RD3|CCDS1498.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 2 3 1 26 25 26 25 3 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754851756 1 216380382 AT A 720 PASS USH2A CCDS31025.1 r.? - - Del intronic D 216380382 216380392 1 40 642.897 - - 9 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 9 6 13 22 40 22 40 6 13 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754852504 1 218481153 G GCCATTT 261 PASS RRP15 CCDS1520.2 r.? - - Ins intronic I 218481153 218481160 6 30 449.812 - - 1 1 1 RRP15|CCDS1520.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RRP15|CCDS1520.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 5 4 5 24 34 24 35 4 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754855705 1 227362234 T TC 600 PASS CDC42BPA CCDS1558.1 r.? - - Ins intronic I 227362234 227362242 1 36 530.63 - - 7 1 1 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 16 23 16 0 0 ./. 5 5 5 7 22 36 23 36 5 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754862539 1 244893630 CAACATTGCATGTGCTT C 435 PASS - - - - - Del - D 244893630 244893647 16 70 805.879 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 6 9 5 9 19 33 20 33 6 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754864042 1 248209226 A AAT 420 PASS OR2L13 CCDS1637.1 r.? - - Ins intronic I 248209226 248209235 2 14 367.648 - - 4 1 1 OR2L13|CCDS1637.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 OR2L13|CCDS1637.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 1 6 2 10 17 34 17 34 2 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754867661 10 7749293 A AT 420 PASS ITIH2 CCDS31141.1 r.? - - Ins intronic I 7749293 7749297 1 20 372.451 - - 3 1 1 ITIH2|CCDS31141.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITIH2|CCDS31141.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 12 22 12 0 0 ./. 4 3 5 3 20 24 20 24 5 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754868324 10 9051973 CCTTTTTAAAGTAAT C 464 PASS - - - - - Del - D 9051973 9051990 14 77 860.951 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 10 6 10 25 31 25 31 6 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754868414 10 9265182 TTA T 269 PASS - - - - - Del - D 9265182 9265201 2 12 249.179 - - 9 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 3 2 3 3 20 19 20 19 3 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754869780 10 12510266 AG A 1140 PASS CAMK1D CCDS7091.1 r.? - - Del intronic D 12510266 12510269 1 108 1019.37 - - 2 1 1 CAMK1D|CCDS7091.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMK1D|CCDS7091.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 11 8 17 11 32 27 32 27 17 11 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754871723 10 17132236 GA G 449 PASS CUBN CCDS7113.1 r.? - - Del intronic D 17132236 17132244 1 16 429.271 - - 7 1 1 CUBN|CCDS7113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUBN|CCDS7113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 1 7 2 11 11 22 11 22 2 11 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754872608 10 19860959 GAAC G 929 PASS C10orf112 ENST00000377266 r.? - - Del intronic D 19860959 19860967 3 77 859.144 - - 2 1 1 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 10 6 14 13 21 18 21 18 14 13 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754881073 10 43036893 C CA 300 PASS - - - - - Ins - I 43036893 43036903 1 10 266.037 - - 9 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 4 1 4 1 31 26 31 27 4 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754881513 10 44262003 G GA 480 PASS - - - - - Ins - I 44262003 44262010 1 24 425.659 - - 6 1 1 - - ./. 0 0 0 0 13 10 13 12 0 0 ./. 3 5 3 5 23 24 23 26 3 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754883570 10 53387046 GA G 840 PASS PRKG1 CCDS7244.1 r.? - - Del intronic D 53387046 53387055 1 60 753.332 - - 8 1 1 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 5 9 7 13 24 20 24 20 7 13 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754883868 10 53728597 AG A 480 PASS PRKG1 CCDS7244.1 r.? - - Del intronic D 53728597 53728599 1 9 422.046 - - 1 1 - PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 8 0 27 0 190 209 190 209 27 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754884468 10 55164982 TTG T 420 PASS - - - - - Del - D 55164982 55165002 2 20 376.666 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 4 3 5 74 63 74 63 3 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754885306 10 56871621 AC A 1169 PASS PCDH15 ENST00000373957 r.? - - Del intronic D 56871621 56871623 1 112 1073.78 - - 1 1 1 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 7 13 14 20 35 48 35 48 14 20 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754886491 10 59748643 CT C 900 PASS - - - - - Del - D 59748643 59748649 1 70 806.539 - - 5 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 9 6 10 9 22 18 22 18 10 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754889712 10 69596736 ATATTT A 360 PASS DNAJC12 CCDS7271.1 r.? - - Del intronic D 69596736 69596745 5 7 322.856 - - 1 1 1 DNAJC12|CCDS7271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC12|CCDS7271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 6 0 9 1 14 5 14 5 9 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754896556 10 89717671 AC A 1500 PASS PTEN ENST00000371953 r.2054delC c.697delC p.R233fs*23 Del frameshift D 89717671 89717673 1 162 1344.03 - - 1 1 1 PTEN|ENST00000371953|r.2054delC|c.697delC|p.R233fs*23|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PTEN|ENST00000371953|r.2054delC|c.697delC|p.R233fs*23|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 14 11 14 0 0 ./. 8 17 12 23 20 33 20 33 12 23 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754900452 10 101904077 ATTTTTTATTTTTTAAATTTTTATTTTTTGAGATGGAGT A 290 PASS - - - - - Del - D 101904077 101904116 38 11 538.094 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 10 0 5 0 24 16 29 16 10 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754900976 10 103265569 A AC 269 PASS BTRC CCDS7512.1 r.? - - Ins intronic I 103265569 103265578 1 12 264.833 - - 8 1 1 BTRC|CCDS7512.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BTRC|CCDS7512.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 12 19 12 0 0 ./. 2 3 4 3 22 18 22 19 4 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754903613 10 111400320 TG T 276 PASS - - - - - Del - D 111400320 111400322 1 6 258.812 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 0 6 0 30 23 30 23 6 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754906714 10 119231023 ACTC A 540 PASS - - - - - Del - D 119231023 119231032 3 10 484.285 - - 2 1 1 - - ./. 0 0 0 0 21 24 21 24 0 0 ./. 0 9 10 11 239 263 239 263 10 11 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754906749 10 119263066 GC G 3809 PASS - - - - - Del - D 119263066 119263068 1 1085 3425.74 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 30 34 49 47 212 220 212 220 49 47 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754906883 10 119502860 AC A 269 PASS - - - - - Del - D 119502860 119502862 1 6 262.424 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 0 11 0 55 66 55 66 11 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754907037 10 119802209 CTG C 360 PASS RAB11FIP2 CCDS7602.1 r.? - - Del intronic D 119802209 119802225 2 7 322.856 - - 7 1 1 RAB11FIP2|CCDS7602.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB11FIP2|CCDS7602.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 0 6 0 67 57 67 57 6 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754908803 10 123230824 TG T 360 PASS - - - - - Del - D 123230824 123230826 1 7 309.611 - - 1 1 - - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 6 0 32 1 417 182 418 182 32 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754908862 10 123281175 AG A 269 PASS FGFR2 CCDS44486.1 r.? - - Del intronic D 123281175 123281177 1 6 260.618 - - 1 1 1 FGFR2|CCDS44486.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGFR2|CCDS44486.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 16 20 0 0 ./. 5 0 23 0 392 377 410 384 23 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754909355 10 123645101 AC A 360 PASS ATE1 CCDS31299.1 r.? - - Del intronic D 123645101 123645103 1 7 316.234 - - 1 1 1 ATE1|CCDS31299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATE1|CCDS31299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 6 0 23 0 410 244 410 244 23 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754909403 10 123670975 AC A 600 PASS ATE1 CCDS31299.1 r.? - - Del intronic D 123670975 123670977 1 11 519.43 - - 1 1 - ATE1|CCDS31299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATE1|CCDS31299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 10 0 38 0 437 434 437 434 38 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754909550 10 123742320 AG A 420 PASS - - - - - Del - D 123742320 123742322 1 8 367.033 - - 1 1 - - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 7 0 67 0 425 402 425 402 67 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754909695 10 123818424 TG T 895 PASS TACC2 CCDS7626.1 r.? - - Del intronic D 123818424 123818426 1 17 771.244 - - 1 1 1 TACC2|CCDS7626.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TACC2|CCDS7626.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 16 0 59 0 392 379 392 379 59 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754910111 10 124119058 AG A 420 PASS - - - - - Del - D 124119058 124119060 1 8 366.431 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 7 0 25 0 548 463 548 463 25 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754910139 10 124144142 AAT A 329 PASS PLEKHA1 CCDS7629.1 r.? - - Del intronic D 124144142 124144145 2 7 313.223 - - 1 1 1 PLEKHA1|CCDS7629.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLEKHA1|CCDS7629.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 21 15 0 0 ./. 6 0 46 0 596 483 596 483 46 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754910166 10 124163130 TA T 780 PASS PLEKHA1 CCDS7629.1 r.? - - Del intronic D 124163130 124163132 1 14 686.879 - - 1 1 1 PLEKHA1|CCDS7629.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLEKHA1|CCDS7629.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 22 6 22 0 0 ./. 13 0 44 0 562 660 562 660 44 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754910955 10 126272949 AG A 300 PASS LHPP CCDS7640.1 r.? - - Del intronic D 126272949 126272951 1 6 255.2 - - 1 1 - LHPP|CCDS7640.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHPP|CCDS7640.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 0 9 0 42 30 42 30 9 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754911173 10 126533293 TG T 509 PASS - - - - - Del - D 126533293 126533295 1 10 455.386 - - 1 1 - - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 9 0 16 0 208 132 208 132 16 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754911461 10 126740242 AG A 660 PASS CTBP2 CCDS7643.1 r.? - - Del intronic D 126740242 126740244 1 12 571.433 - - 1 1 1 CTBP2|CCDS7643.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CTBP2|CCDS7643.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 11 0 24 0 238 201 238 201 24 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754911494 10 126775639 TC T 300 PASS CTBP2 CCDS7643.1 r.? - - Del intronic D 126775639 126775641 1 6 233.525 - - 1 1 - CTBP2|CCDS7643.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CTBP2|CCDS7643.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 0 5 0 18 189 240 189 240 0 18 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754920097 11 14212204 TG T 300 PASS SPON1 ENST00000310358 r.? - - Del intronic D 14212204 14212206 1 6 255.055 - - 1 1 - SPON1|ENST00000310358|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPON1|ENST00000310358|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 0 10 0 24 17 24 17 10 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754920547 11 16022287 C CGT 300 PASS SOX6 CCDS7821.1 r.? - - Ins intronic I 16022287 16022301 2 10 264.086 - - 6 1 - SOX6|CCDS7821.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SOX6|CCDS7821.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 1 4 2 4 14 28 15 28 2 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754930860 11 47233119 T TTTTA 540 PASS DDB2 CCDS7927.1 r.? - - Ins upstream I 47233119 47233147 4 30 464.518 - - 6 1 - DDB2|CCDS7927.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 DDB2|CCDS7927.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 4 9 5 36 27 36 27 9 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754931600 11 48790522 CA C 480 PASS - - - - - Del - D 48790522 48790527 1 24 432.171 - - 4 1 1 - - ./. 0 0 0 0 28 21 28 21 0 0 ./. 5 3 9 7 26 26 26 26 9 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754932144 11 50340144 GA G 780 PASS - - - - - Del - D 50340144 50340149 1 44 702.278 - - 4 1 1 - - ./. 0 0 0 0 10 21 10 21 0 0 ./. 3 10 12 11 23 26 23 26 12 11 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754941763 11 86087522 GGA G 300 PASS CCDC81 CCDS8276.1 r.? - - Del intronic D 86087522 86087541 2 6 268.301 - - 9 1 1 CCDC81|CCDS8276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC81|CCDS8276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 0 5 2 6 38 41 38 41 2 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754943446 11 90043595 CAG C 1649 PASS - - - - - Del - D 90043595 90043600 2 225 1512 - - 2 1 1 - - ./. 0 0 0 0 20 28 20 28 0 0 ./. 14 14 17 22 34 51 34 51 17 22 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754943501 11 90186353 AT A 1078 PASS - - - - - Del - D 90186353 90186355 1 104 1023.4 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 7 12 13 13 35 30 35 30 13 13 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754960992 12 9604698 TATGAG T 466 PASS DDX12 ENST00000290818 r.? - - Del upstream D 9604698 9604706 5 55 755.765 - - 1 1 1 DDX12|ENST00000290818|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 DDX12|ENST00000290818|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 18 14 18 14 0 0 ./. 10 4 11 4 39 25 39 25 11 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754961038 12 9740359 GTACTAATTTCAACACTA G 406 PASS - - - - - Del - D 9740359 9740378 17 63 755.765 - - 1 1 1 - - ./. 0 0 0 0 18 6 18 6 0 0 ./. 6 8 7 8 32 38 32 38 7 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754965207 12 19698326 AT A 840 PASS - - - - - Del - D 19698326 19698328 1 63 751.55 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 8 6 12 10 21 25 21 25 12 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754967998 12 26378997 CT C 598 PASS SSPN CCDS8707.1 r.? - - Del intronic D 26378997 26379005 1 40 593.213 - - 7 1 1 SSPN|CCDS8707.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SSPN|CCDS8707.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 7 10 10 43 27 43 27 10 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754968273 12 27031032 CT C 300 PASS - - - - - Del - D 27031032 27031034 1 6 260.283 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 0 5 0 9 28 45 28 45 0 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754974595 12 47499151 C CACAG 360 PASS FAM113B CCDS8752.1 r.? - - Ins intronic I 47499151 47499158 4 16 309.45 - - 1 1 1 FAM113B|CCDS8752.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FAM113B|CCDS8752.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 3 5 6 20 20 20 20 5 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754974938 12 48600817 A AT 960 PASS OR10AD1 CCDS31787.1 r.? - - Ins upstream I 48600817 48600824 1 72 854.098 - - 6 1 1 OR10AD1|CCDS31787.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 OR10AD1|CCDS31787.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 11 10 13 23 29 23 29 10 13 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754978645 12 59097537 GT G 480 PASS - - - - - Del - D 59097537 59097547 1 24 431.866 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 5 5 7 24 25 24 25 5 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754979666 12 62619423 GA G 300 PASS - - - - - Del - D 62619423 62619432 1 10 269.916 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 1 5 4 26 18 26 18 5 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754985575 12 81536737 TG T 1020 PASS ACSS3 CCDS9022.1 r.? - - Del intronic D 81536737 81536739 1 84 917.715 - - 1 1 1 ACSS3|CCDS9022.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACSS3|CCDS9022.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 6 11 8 12 19 20 19 20 8 12 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754989474 12 94560826 G GA 300 PASS PLXNC1 CCDS9049.1 r.? - - Ins intronic I 94560826 94560836 1 12 263.895 - - 9 1 1 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 12 22 12 0 0 ./. 2 3 2 3 21 31 22 31 2 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754990707 12 97467387 CA C 480 PASS - - - - - Del - D 97467387 97467390 1 24 431.866 - - 2 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 3 8 4 30 20 30 20 8 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754992047 12 101672980 AT A 540 PASS UTP20 CCDS9081.1 r.? - - Del upstream D 101672980 101672987 1 10 485.849 - - 6 1 1 UTP20|CCDS9081.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 UTP20|CCDS9081.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 21 6 21 6 0 0 ./. 9 0 10 1 16 4 16 4 10 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754993874 12 107103950 AT A 840 PASS RFX4 CCDS9106.1 r.? - - Del intronic D 107103950 107103957 1 55 755.765 - - 6 1 1 RFX4|CCDS9106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RFX4|CCDS9106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 10 4 10 4 32 17 32 17 10 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2754995881 12 113961222 TG T 960 PASS - - - - - Del - D 113961222 113961225 1 72 863.731 - - 2 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 11 5 18 9 25 24 25 24 18 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755000728 12 125955186 CA C 329 PASS TMEM132B CCDS41859.1 r.? - - Del intronic D 125955186 125955192 1 15 322.093 - - 5 1 1 TMEM132B|CCDS41859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM132B|CCDS41859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 2 5 4 22 29 22 30 5 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755015201 13 53810867 A AT 509 PASS - - - - - Ins - I 53810867 53810876 1 24 482.039 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 7 3 11 18 20 18 20 3 11 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755015617 13 55395839 TAAC T 298 PASS - - - - - Del - D 55395839 55395855 3 12 324.972 - - 5 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 5 3 9 16 18 16 18 3 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755015888 13 56114642 CA C 300 PASS - - - - - Del - D 56114642 56114645 1 10 269.606 - - 2 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 1 4 1 6 13 27 13 27 1 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755018745 13 65692375 G GA 600 PASS - - - - - Ins - I 65692375 65692383 1 27 535.599 - - 7 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 8 3 9 8 16 8 16 3 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755018862 13 66171075 T TG 420 PASS - - - - - Ins - I 66171075 66171078 1 14 373.715 - - 2 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 1 6 1 9 17 23 17 24 1 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755029272 13 99868315 T TA 1200 PASS UBAC2 CCDS9490.1 r.? - - Ins intronic I 99868315 99868317 1 120 1070.6 - - 1 1 1 UBAC2|CCDS9490.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UBAC2|CCDS9490.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 9 11 22 19 36 28 36 28 22 19 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755029864 13 101164559 GCCATAAAATTA G 319 PASS PCCA CCDS9496.2 r.? - - Del intronic D 101164559 101164571 11 42 595.18 - - 1 1 1 PCCA|CCDS9496.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCCA|CCDS9496.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 6 6 7 31 26 31 26 6 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755033773 13 112110588 GT G 360 PASS - - - - - Del - D 112110588 112110590 1 16 321.359 - - 1 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 3 3 4 6 20 27 20 27 4 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755037044 14 23836292 GACAC G 329 PASS EFS CCDS9595.1 r.? - - Del upstream D 23836292 23836302 4 15 320.62 - - 4 1 1 EFS|CCDS9595.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 EFS|CCDS9595.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 4 3 5 15 27 15 27 3 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755037593 14 25380617 GGAA G 720 PASS STXBP6 CCDS9634.1 r.? - - Del intronic D 25380617 25380628 3 45 648.466 - - 3 1 1 STXBP6|CCDS9634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STXBP6|CCDS9634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 8 6 10 25 33 25 33 6 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755038314 14 27519493 A AT 480 PASS - - - - - Ins - I 27519493 27519501 1 21 428.297 - - 7 1 1 - - ./. 0 0 0 0 19 16 20 16 0 0 ./. 6 2 11 7 32 30 32 30 11 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755043783 14 42100469 CTG C 360 PASS LRFN5 CCDS9678.1 r.? - - Del intronic D 42100469 42100475 2 12 324.835 - - 2 1 1 LRFN5|CCDS9678.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LRFN5|CCDS9678.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 5 1 5 4 22 25 22 25 5 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755044082 14 43020419 AG A 360 PASS - - - - - Del - D 43020419 43020421 1 7 321.222 - - 1 1 - - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 6 0 8 0 33 20 33 20 8 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755045741 14 48230769 GA G 660 PASS - - - - - Del - D 48230769 48230775 1 40 595.531 - - 5 1 1 - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 4 7 5 9 28 29 28 29 5 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755057611 14 79511184 TC T 300 PASS NRXN3 CCDS9870.1 r.? - - Del intronic D 79511184 79511186 1 6 262.267 - - 1 1 1 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 0 8 0 18 25 18 25 8 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755057880 14 80316895 AT A 480 PASS NRXN3 CCDS45145.1 r.? - - Del intronic D 80316895 80316900 1 24 431.307 - - 4 1 1 NRXN3|CCDS45145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN3|CCDS45145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 5 5 6 27 24 27 24 5 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755059979 14 86389268 CT C 420 PASS - - - - - Del - D 86389268 86389277 1 20 378.372 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 4 4 4 13 19 13 19 4 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755060597 14 88050517 AAAG A 360 PASS - - - - - Del - D 88050517 88050529 3 12 324.835 - - 3 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 1 5 1 8 29 35 29 35 1 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755063171 14 94986010 C CTGGAGGTGGTGATGATGGAGATGATGGTGGTGATGGAAGTGGTGGTGGTGA 261 PASS SERPINA12 CCDS9926.1 r.? - - Ins upstream I 94986010 94986020 51 28 210.907 - - 0 1 - SERPINA12|CCDS9926.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 SERPINA12|CCDS9926.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 24 24 24 24 0 0 ./. 3 6 0 0 48 33 50 37 3 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755069216 15 22459998 AT A 360 PASS - - - - - Del - D 22459998 22460006 1 16 325.081 - - 7 1 1 - - ./. 0 0 0 0 33 33 33 33 0 0 ./. 3 3 3 4 46 61 46 61 3 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755070764 15 26147447 TG T 420 PASS ENSG00000206187 ENST00000383019 r.? - - Del upstream D 26147447 26147450 1 20 379.261 - - 2 1 1 ENSG00000206187|ENST00000383019|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000206187|ENST00000383019|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 3 6 5 23 24 23 24 6 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755071089 15 26957969 G GAGCAGAT 348 PASS GABRB3 CCDS10019.1 r.? - - Ins intronic I 26957969 26957978 7 48 597.18 - - 1 1 1 GABRB3|CCDS10019.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GABRB3|CCDS10019.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 15 0 0 ./. 5 7 5 7 25 27 25 27 5 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755077203 15 44160804 AAG A 449 PASS FRMD5 CCDS10107.2 r.? - - Del downstream D 44160804 44160808 2 21 429.828 - - 1 1 1 FRMD5|CCDS10107.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FRMD5|CCDS10107.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 24 15 24 15 0 0 ./. 2 6 3 8 21 21 21 21 3 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755083781 15 62137973 G GA 840 PASS - - - - - Ins - I 62137973 62137982 1 63 746.48 - - 8 1 1 - - ./. 0 0 0 0 14 14 14 15 0 0 ./. 6 8 6 10 26 29 26 29 6 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755087491 15 71852558 CAG C 600 PASS THSD4 CCDS10238.2 r.? - - Del intronic D 71852558 71852563 2 32 541.801 - - 2 1 1 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 18 0 0 ./. 3 7 4 9 21 21 21 23 4 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755088201 15 73580490 CTTG C 569 PASS NEO1 CCDS10247.1 r.? - - Del intronic D 73580490 73580515 3 35 538.189 - - 8 1 - NEO1|CCDS10247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEO1|CCDS10247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 6 7 9 34 26 34 26 7 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755090522 15 80378374 TTTTA T 420 PASS ZFAND6 CCDS10313.1 r.? - - Del intronic D 80378374 80378390 4 20 379.261 - - 3 1 1 ZFAND6|CCDS10313.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZFAND6|CCDS10313.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 4 4 6 18 28 18 28 4 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755090606 15 80587077 CTG C 300 PASS - - - - - Del - D 80587077 80587084 2 12 270.901 - - 3 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 3 2 4 2 22 26 22 26 4 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755093393 15 89283434 GGGGACAGAGAGG GTT 261 PASS - - - - - Complex - DI 89283435 89283446 12 30 0 - - 0 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 5 4 0 0 17 22 18 22 5 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755096667 15 97899907 AAT A 478 PASS - - - - - Del - D 97899907 97899916 2 30 487.621 - - 4 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 4 5 5 7 25 17 25 17 5 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755098786 16 998743 CGACAGAGTCAGAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAATGACAGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAAGGACAGAGTCAGAGCCAACGACAGAGTCAGTCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCAGTCAATGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGACAAT C 305 PASS LMF1 CCDS45373.1 r.? - - Del intronic D 998743 999105 354 30 464.243 - - 1 1 - LMF1|CCDS45373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMF1|CCDS45373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 5 4 0 0 44 28 49 32 5 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755100178 16 4287339 GC G 418 PASS SRL CCDS42113.1 r.? - - Del intronic D 4287339 4287345 1 24 432.997 - - 5 1 1 SRL|CCDS42113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRL|CCDS42113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 5 6 7 33 31 33 31 6 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755110201 16 26475136 T TA 1380 PASS - - - - - Ins - I 26475136 26475142 1 154 1231.02 - - 5 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 13 10 14 12 32 31 32 31 14 12 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755111137 16 28949279 ACTGAGCCCCATCCCCCATC A 348 PASS CD19 CCDS10644.1 r.? - - Del intronic D 28949279 28949322 19 48 623.606 - - 2 1 - CD19|CCDS10644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD19|CCDS10644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 7 5 4 6 12 23 13 23 7 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755111408 16 29759105 GAACT G 838 PASS C16orf54 CCDS10652.1 r.? - - Del upstream D 29759105 29759114 4 72 810.664 - - 2 1 1 C16orf54|CCDS10652.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C16orf54|CCDS10652.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 15 8 15 0 0 ./. 7 8 8 9 26 27 27 27 9 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755116133 16 49384042 GC G 540 PASS - - - - - Del - D 49384042 49384046 1 30 478.692 - - 3 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 4 5 7 35 30 35 30 5 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755116771 16 51215951 ATG A 300 PASS - - - - - Del - D 51215951 51215969 2 12 269.419 - - 8 1 - - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 2 3 2 3 28 34 28 34 2 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755120814 16 62154088 CTTGA C 449 PASS - - - - - Del - D 62154088 62154093 4 25 432.997 - - 1 1 1 - - ./. 0 0 0 0 12 22 12 22 0 0 ./. 4 4 6 4 22 29 22 29 6 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755121699 16 64320166 G GA 300 PASS - - - - - Ins - I 64320166 64320176 1 6 263.398 - - 9 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 0 5 1 5 60 42 61 42 1 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755122512 16 66547619 GGGAGTCTTACTTACCAGAACAGGGGCTGCCATGGGGAAAAGGCTGCCTTTGATGAGCCACTCCTCATGGAGATGGTGAATTGCTTCCAGGTATTCCTGCCAGGGAAACACAAGCAGTCTGTCGGGAGT G 667 PASS TK2 CCDS10805.1 r.970-33_1050+14del128 c.745-33_825+14del128 p.? Del ess splice D 66547619 66547751 128 150 1237.04 - - 1 1 1 TK2|CCDS10805.1|r.970-33_1050+14del128|c.745-33_825+14del128|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 TK2|CCDS10805.1|r.970-33_1050+14del128|c.745-33_825+14del128|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 12 14 12 14 0 0 ./. 9 14 0 0 19 17 28 31 9 14 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755124752 16 73872615 C CA 478 PASS - - - - - Ins - I 73872615 73872618 1 28 481.703 - - 2 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 3 6 3 6 13 23 14 23 3 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755134918 17 13953041 CA C 300 PASS - - - - - Del - D 13953041 13953045 1 10 271.099 - - 3 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 1 4 1 6 12 26 12 26 1 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755140870 17 34490370 CT C 522 PASS TBC1D3B CCDS42300.1 r.? - - Del downstream D 34490370 34490374 1 19 974.752 - - 3 1 1 TBC1D3B|CCDS42300.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TBC1D3B|CCDS42300.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 12 17 12 0 0 ./. 18 0 22 0 47 9 47 9 22 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755143446 17 42063631 C CA 480 PASS PYY CCDS32662.1 r.? - - Ins intronic I 42063631 42063641 1 21 425.329 - - 9 1 1 PYY|CCDS32662.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PYY|CCDS32662.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 6 4 10 18 21 18 21 4 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755143754 17 42797226 CAT C 960 PASS DBF4B CCDS11485.1 r.? - - Del intronic D 42797226 42797229 2 80 862.098 - - 1 1 1 DBF4B|CCDS11485.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DBF4B|CCDS11485.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 7 9 13 10 24 19 24 19 13 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755147437 17 55707547 C CG 420 PASS MSI2 CCDS11597.1 r.? - - Ins intronic I 55707547 55707553 1 8 370.508 - - 5 1 1 MSI2|CCDS11597.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MSI2|CCDS11597.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 7 0 11 0 21 11 21 11 11 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755149298 17 61841492 GTCACCA G 551 PASS CCDC47 CCDS11643.1 r.761_766delUGGUGA c.425_430delTGGTGA p.M142_V143delMV Del inframe D 61841492 61841502 6 104 1030.18 - - 1 1 1 CCDC47|CCDS11643.1|r.761_766delUGGUGA|c.425_430delTGGTGA|p.M142_V143delMV|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 CCDC47|CCDS11643.1|r.761_766delUGGUGA|c.425_430delTGGTGA|p.M142_V143delMV|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 22 9 22 9 0 0 ./. 12 7 14 8 25 11 25 11 14 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755161559 18 18902457 TA T 480 PASS GREB1L CCDS45836.1 r.? - - Del intronic D 18902457 18902462 1 24 434.185 - - 4 1 1 GREB1L|CCDS45836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GREB1L|CCDS45836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 3 5 4 6 16 20 16 20 4 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755163606 18 26222281 CATGTTTTGAACCCAGAT C 290 PASS - - - - - Del - D 26222281 26222299 17 32 542.731 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 7 3 6 3 16 14 17 14 7 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755164145 18 27885617 TTC T 300 PASS - - - - - Del - D 27885617 27885636 2 10 270.162 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 1 4 1 4 19 22 19 22 1 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755168199 18 44774049 GC G 629 PASS ENSG00000215474 ENST00000425639 r.1505delG c.1505delG p.S502fs*34 Del frameshift D 44774049 44774051 1 36 595.8 - - 1 1 1 ENSG00000215474|ENST00000425639|r.1505delG|c.1505delG|p.S502fs*34|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ENSG00000215474|ENST00000425639|r.1505delG|c.1505delG|p.S502fs*34|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 20 14 20 14 0 0 ./. 8 3 9 5 26 19 26 19 9 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755171611 18 55838630 CCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTG C 301 PASS NEDD4L CCDS45872.1 r.? - - Del intronic D 55838630 55838673 40 12 325.639 - - 1 1 1 NEDD4L|CCDS45872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEDD4L|CCDS45872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 4 15 4 0 0 ./. 5 1 0 0 13 0 15 1 5 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755179521 19 3258676 CAT C 360 PASS CELF5 CCDS12106.1 r.? - - Del intronic D 3258676 3258680 2 15 325.704 - - 1 1 1 CELF5|CCDS12106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CELF5|CCDS12106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 2 5 3 14 18 14 18 5 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755190683 19 35596836 A ATTATCACCGCCGTGACCACGCCACCACCG 269 PASS ENSG00000179066 ENST00000313865 r.? - - Ins upstream I 35596836 35596845 29 10 177.499 - - 0 1 - ENSG00000179066|ENST00000313865|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ENSG00000227392|ENST00000392227|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 19 9 0 0 ./. 1 4 0 0 21 19 24 20 1 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755205918 2 24093544 G GGT 269 PASS ATAD2B CCDS46227.1 r.? - - Ins intronic I 24093544 24093545 2 12 261.868 - - 0 1 1 ATAD2B|CCDS46227.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATAD2B|CCDS46227.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 5 14 7 0 0 ./. 2 3 2 0 21 18 21 19 4 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755208348 2 31849405 GT G 420 PASS - - - - - Del - D 31849405 31849413 1 18 376.128 - - 7 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 2 5 5 6 12 19 12 19 5 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755210478 2 38277896 TTTG T 540 PASS FAM82A1 CCDS1792.1 r.? - - Del intronic D 38277896 38277914 3 30 477.143 - - 5 1 1 FAM82A1|CCDS1792.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM82A1|CCDS1792.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 18 25 18 0 0 ./. 4 5 7 6 14 18 14 18 7 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755213472 2 48557198 AAAAT A 780 PASS FOXN2 CCDS1838.1 r.? - - Del intronic D 48557198 48557214 4 56 699.641 - - 3 1 1 FOXN2|CCDS1838.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FOXN2|CCDS1838.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 20 21 20 0 0 ./. 7 6 9 9 15 19 15 19 9 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755213859 2 49987426 TTCA T 958 PASS - - - - - Del - D 49987426 49987433 3 90 914.916 - - 2 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 8 9 11 11 23 26 23 26 11 11 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755217436 2 64069127 GTTTC G 780 PASS UGP2 CCDS1875.1 r.285_288delUUUC c.? p.? Del 5'UTR variant D 64069127 64069143 4 50 695.427 - - 3 1 1 UGP2|CCDS1875.1|r.285_288delUUUC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 UGP2|CCDS1875.1|r.285_288delUUUC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 5 21 5 21 0 0 ./. 4 9 6 10 11 23 11 23 6 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755219327 2 70297446 TCTC T 389 PASS - - - - - Del - D 70297446 70297450 3 20 376.73 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 4 7 7 14 14 14 14 7 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755222726 2 84877352 ACTT A 600 PASS DNAH6 CCDS46348.1 r.? - - Del intronic D 84877352 84877360 3 36 538.186 - - 2 1 1 DNAH6|CCDS46348.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH6|CCDS46348.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 5 5 7 7 13 15 13 15 7 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755235113 2 132395297 ATTACTTTTTAAAATGCAATTCAAAT A 377 PASS - - - - - Del - D 132395297 132395324 25 56 696.029 - - 1 1 1 - - ./. 0 0 0 0 25 12 25 12 0 0 ./. 7 6 6 4 16 12 17 14 7 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755236909 2 137558383 AT A 749 PASS THSD7B ENST00000409968 r.? - - Del intronic D 137558383 137558392 1 56 696.029 - - 8 1 1 THSD7B|ENST00000409968|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 THSD7B|ENST00000409968|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 22 13 22 0 0 ./. 7 6 10 7 19 16 19 16 10 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755238019 2 141296112 TAAC T 809 PASS LRP1B CCDS2182.1 r.? - - Del intronic D 141296112 141296120 3 60 753.46 - - 2 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 9 5 9 12 18 12 18 5 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755240537 2 150827532 AC A 525 PASS - - - - - Del - D 150827532 150827534 1 42 592.004 - - 1 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 5 6 8 15 23 21 23 21 8 15 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755241912 2 155437034 AAG A 689 PASS - - - - - Del - D 155437034 155437038 2 24 645.823 - - 1 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 11 1 16 5 26 10 26 10 16 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755243050 2 159839278 CCTGA C 749 PASS TANC1 CCDS42766.1 r.? - - Del intronic D 159839278 159839285 4 36 693.621 - - 1 1 1 TANC1|CCDS42766.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TANC1|CCDS42766.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 24 6 24 0 0 ./. 2 11 4 16 15 31 15 31 4 16 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755249568 2 182900388 G GCT 480 PASS PPP1R1C CCDS46468.1 r.? - - Ins intronic I 182900388 182900402 2 21 420.916 - - 6 1 1 PPP1R1C|CCDS46468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPP1R1C|CCDS46468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 13 0 0 ./. 2 6 4 6 16 17 17 17 4 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755253374 2 196526052 T TA 1109 PASS SLC39A10 CCDS33353.1 r.? - - Ins intronic I 196526052 196526059 1 108 1009.31 - - 6 1 1 SLC39A10|CCDS33353.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SLC39A10|CCDS33353.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 20 21 20 0 0 ./. 11 8 15 14 28 23 29 23 15 14 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755265011 2 235021801 TG T 569 PASS - - - - - Del - D 235021801 235021803 1 32 515.91 - - 1 1 - - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 7 3 8 9 21 23 21 23 8 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755267250 20 522388 C CT 360 PASS CSNK2A1P CCDS13003.1 r.? - - Ins intronic I 522388 522397 1 16 322.118 - - 8 1 1 CSNK2A1P|CCDS13003.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CSNK2A1P|CCDS13003.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 3 4 5 29 20 30 23 4 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755271966 20 13181139 TTC T 300 PASS - - - - - Del - D 13181139 13181157 2 10 269.635 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 1 4 1 5 30 34 30 34 1 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755281960 20 41645714 C CA 300 PASS PTPRT CCDS42874.1 r.? - - Ins intronic I 41645714 41645723 1 12 268.431 - - 8 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 3 2 5 5 27 24 27 24 5 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755284804 20 48900661 G GA 1140 PASS - - - - - Ins - I 48900661 48900662 1 104 1020.04 - - 0 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 12 7 15 12 43 33 43 34 15 12 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755285989 20 51512330 GAGA G 476 PASS - - - - - Del - D 51512330 51512339 3 35 542.281 - - 2 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 6 4 9 4 33 23 33 23 9 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755286931 20 53583205 T TA 480 PASS - - - - - Ins - I 53583205 53583207 1 9 429.49 - - 1 1 1 - - ./. 0 0 0 0 21 25 21 25 0 0 ./. 8 0 11 10 33 27 33 27 11 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755288396 20 57749336 AG A 360 PASS - - - - - Del - D 57749336 57749339 1 15 325.73 - - 2 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 2 4 4 29 21 29 21 4 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755298164 21 25495796 AT A 840 PASS - - - - - Del - D 25495796 25495804 1 63 761.015 - - 7 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 6 8 7 10 20 25 20 25 7 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755298442 21 26243103 TA T 780 PASS - - - - - Del - D 26243103 26243105 1 54 706.657 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 8 5 8 7 23 24 23 24 8 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755303726 21 39868780 G GA 720 PASS ERG CCDS13657.1 r.? - - Ins intronic I 39868780 39868789 1 40 645.074 - - 8 1 1 ERG|CCDS13657.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ERG|CCDS13657.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 12 22 12 0 0 ./. 9 3 9 4 26 24 26 24 9 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755309932 22 24140084 GTGTGAACCACCACACC G 261 PASS SMARCB1 CCDS13817.1 r.? - - Del intronic D 24140084 24140103 16 30 491.382 - - 1 1 1 SMARCB1|CCDS13817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMARCB1|CCDS13817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 5 4 5 23 29 23 29 4 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755311488 22 29217025 CAAAG C 687 PASS - - - - - Del - D 29217025 29217035 4 56 709.172 - - 2 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 7 8 7 16 16 16 16 9 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755318437 22 50702331 CCA C 360 PASS MAPK11 CCDS14090.1 r.2240_2241delUG c.? p.? Del 3'UTR variant D 50702331 50702336 2 15 324.578 - - 2 1 1 MAPK11|CCDS14090.1|r.2240_2241delUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 MAPK11|CCDS14090.1|r.2240_2241delUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 4 5 11 18 11 18 4 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755321810 3 9035869 AAGGGAAGTT A 290 PASS SRGAP3 CCDS33689.1 r.? - - Del intronic D 9035869 9035881 9 20 538.395 - - 1 1 1 SRGAP3|CCDS33689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRGAP3|CCDS33689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 1 9 1 9 13 23 13 23 1 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755327024 3 24894083 C CA 300 PASS - - - - - Ins - I 24894083 24894093 1 12 266.187 - - 9 1 1 - - ./. 0 0 0 0 20 14 21 14 0 0 ./. 3 2 3 2 39 36 41 37 3 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755340657 3 67810694 G GT 300 PASS - - - - - Ins - I 67810694 67810704 1 12 266.187 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 2 3 30 40 30 41 2 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755341191 3 69369729 C CA 780 PASS FRMD4B CCDS46863.1 r.? - - Ins intronic I 69369729 69369736 1 54 692.086 - - 6 1 1 FRMD4B|CCDS46863.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FRMD4B|CCDS46863.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 8 7 10 25 39 25 39 7 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755343120 3 75419775 GAGA G 538 PASS - - - - - Del - D 75419775 75419781 3 32 538.395 - - 1 1 1 - - ./. 0 0 0 0 14 23 14 23 0 0 ./. 7 3 9 6 23 30 23 30 9 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755344175 3 75836896 T TCTTATGTTAAAGTTA 270 PASS ZNF717 CCDS46871.1 r.? - - Ins upstream I 75836896 75836898 15 11 448.086 - - 0 1 1 ZNF717|CCDS46871.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ZNF717|CCDS46871.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 19 14 19 14 0 0 ./. 10 0 11 0 53 69 55 69 12 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755349702 3 95422659 AACTC A 269 PASS - - - - - Del - D 95422659 95422671 4 12 269.197 - - 2 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 3 7 6 23 32 23 32 7 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755349751 3 95552715 CT C 780 PASS - - - - - Del - D 95552715 95552724 1 54 699.913 - - 8 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 8 5 9 9 26 39 26 39 9 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755350255 3 97652120 GAGTCTTACATTCCT G 261 PASS CRYBG3 CCDS43113.1 r.? - - Del intronic D 97652120 97652138 14 30 484.555 - - 1 1 1 CRYBG3|CCDS43113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRYBG3|CCDS43113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 10 20 10 0 0 ./. 5 4 5 4 29 24 29 24 5 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755358559 3 121492165 A AG 300 PASS IQCB1 CCDS33837.1 r.? - - Ins intronic I 121492165 121492166 1 10 263.177 - - 0 1 - IQCB1|CCDS33837.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IQCB1|CCDS33837.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 11 0 0 ./. 4 1 6 1 19 23 19 25 6 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755362743 3 134717985 A AC 660 PASS EPHB1 CCDS46921.1 r.? - - Ins intronic I 134717985 134717990 1 42 585.612 - - 4 1 1 EPHB1|CCDS46921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPHB1|CCDS46921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 6 5 8 6 29 40 29 40 8 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755364217 3 139020037 TCA T 540 PASS MRPS22 CCDS3107.1 r.? - - Del intronic D 139020037 139020042 2 28 483.953 - - 2 1 1 MRPS22|CCDS3107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MRPS22|CCDS3107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 6 4 7 32 25 32 25 4 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755364623 3 140507030 TA T 300 PASS - - - - - Del - D 140507030 140507040 1 12 269.197 - - 9 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 2 3 3 3 20 30 20 30 3 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755365452 3 142729825 C CT 540 PASS SR140 CCDS46928.1 r.? - - Ins intronic I 142729825 142729834 1 30 461.075 - - 8 1 1 SR140|CCDS46928.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SR140|CCDS46928.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 23 22 23 0 0 ./. 4 5 7 11 20 40 20 41 7 11 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755369615 3 154823567 TA T 360 PASS MME CCDS3172.1 r.? - - Del intronic D 154823567 154823574 1 15 323.037 - - 6 1 1 MME|CCDS3172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MME|CCDS3172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 2 4 4 27 29 27 29 4 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755373186 3 166342320 AG A 780 PASS - - - - - Del - D 166342320 166342324 1 54 699.913 - - 3 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 8 5 9 6 28 26 28 26 9 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755373278 3 166528081 AT A 600 PASS - - - - - Del - D 166528081 166528090 1 35 538.395 - - 8 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 6 7 6 25 29 25 29 7 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755379690 3 186337079 CTG C 600 PASS AHSG CCDS3278.1 r.? - - Del intronic D 186337079 186337083 2 32 537.793 - - 1 1 1 AHSG|CCDS3278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AHSG|CCDS3278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 3 7 3 9 20 36 20 36 3 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755381279 3 190581898 TG T 540 PASS ENSG00000205835 ENST00000442080 r.? - - Del upstream D 190581898 190581900 1 28 483.953 - - 1 1 1 ENSG00000205835|ENST00000442080|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000205835|ENST00000442080|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 22 15 22 15 0 0 ./. 6 3 7 4 21 26 21 26 7 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755381306 3 190659429 A AT 300 PASS - - - - - Ins - I 190659429 190659439 1 12 266.187 - - 9 1 1 - - ./. 0 0 0 0 11 16 12 16 0 0 ./. 2 3 3 3 25 28 25 28 3 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755382399 3 193854999 T TC 1200 PASS HES1 CCDS3305.1 r.? - - Ins intronic I 193854999 193855002 1 117 1062.34 - - 2 1 1 HES1|CCDS3305.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HES1|CCDS3305.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 8 12 12 14 34 38 34 38 12 14 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755384885 4 2376175 T TA 300 PASS ZFYVE28 CCDS33942.1 r.? - - Ins intronic I 2376175 2376185 1 10 262.981 - - 9 1 1 ZFYVE28|CCDS33942.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFYVE28|CCDS33942.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 4 1 4 42 39 42 39 1 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755385500 4 3657688 T TGCTAA 298 PASS - - - - - Ins - I 3657688 3657697 5 15 304.139 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 4 2 4 30 26 31 26 2 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755388106 4 11222213 AT A 480 PASS - - - - - Del - D 11222213 11222215 1 25 430.403 - - 1 1 1 - - ./. 0 0 0 0 24 15 24 15 0 0 ./. 4 4 6 6 27 30 27 30 6 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755388790 4 13254219 G GA 540 PASS - - - - - Ins - I 13254219 13254227 1 30 478.785 - - 7 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 5 4 8 22 28 23 28 4 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755389552 4 15771369 GA G 600 PASS - - - - - Del - D 15771369 15771377 1 36 538.004 - - 7 1 1 - - ./. 0 0 0 0 23 12 23 12 0 0 ./. 5 5 7 7 27 23 27 23 7 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755389709 4 16199142 CA C 1289 PASS TAPT1 CCDS47030.1 r.? - - Del intronic D 16199142 16199148 1 143 1181.8 - - 5 1 1 TAPT1|CCDS47030.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TAPT1|CCDS47030.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 10 12 11 13 36 41 36 41 11 13 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755395853 4 34357691 ACT A 389 PASS - - - - - Del - D 34357691 34357696 2 20 376.603 - - 2 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 3 4 4 4 30 33 30 33 4 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755397211 4 38298729 A AT 480 PASS - - - - - Ins - I 38298729 38298738 1 24 425.587 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 3 7 8 22 24 22 24 7 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755399568 4 43358778 AAAAT A 300 PASS - - - - - Del - D 43358778 43358798 4 10 269.002 - - 4 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 1 5 3 18 20 18 20 5 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755400518 4 46419504 AC A 360 PASS GABRA2 ENST00000510861 r.? - - Del intronic D 46419504 46419512 1 15 322.802 - - 7 1 1 GABRA2|ENST00000510861|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GABRA2|ENST00000510861|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 10 21 10 0 0 ./. 2 4 3 6 17 22 17 22 3 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755400562 4 46723190 GA G 457 PASS - - - - - Del - D 46723190 46723200 1 24 430.403 - - 9 1 1 - - ./. 0 0 0 0 10 23 10 23 0 0 ./. 5 3 10 6 27 32 27 32 10 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755403094 4 54972437 AT A 660 PASS GSX2 CCDS3494.1 r.? - - Del downstream D 54972437 54972445 1 30 589.998 - - 7 1 1 GSX2|CCDS3494.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FIP1L1|ENST00000507166|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 9 4 14 22 40 22 40 4 14 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755405391 4 60776055 G GT 300 PASS - - - - - Ins - I 60776055 60776065 1 10 264.186 - - 9 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 4 1 4 1 31 26 31 26 4 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755406788 4 64340478 TG T 569 PASS - - - - - Del - D 64340478 64340482 1 27 538.004 - - 3 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 2 8 4 8 20 34 20 34 4 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755407851 4 67271429 AT A 600 PASS - - - - - Del - D 67271429 67271439 1 35 537.402 - - 9 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 6 4 8 6 24 16 24 16 8 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755407939 4 67520971 CT C 780 PASS - - - - - Del - D 67520971 67520981 1 36 699.405 - - 9 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 11 2 11 6 35 22 35 22 11 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755414936 4 88277588 AT A 480 PASS HSD17B11 CCDS3619.1 r.? - - Del intronic D 88277588 88277591 1 25 430.403 - - 2 1 1 HSD17B11|CCDS3619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HSD17B11|CCDS3619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 4 5 6 22 25 22 25 5 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755415601 4 90217415 GA G 660 PASS GPRIN3 CCDS34030.1 r.? - - Del intronic D 90217415 90217425 1 40 591.805 - - 9 1 1 GPRIN3|CCDS34030.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GPRIN3|CCDS34030.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 16 21 16 0 0 ./. 7 4 8 6 25 26 25 26 8 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755420836 4 107606019 CCT C 396 PASS - - - - - Del - D 107606019 107606022 2 18 376.603 - - 1 1 1 - - ./. 0 0 0 0 10 17 11 17 0 0 ./. 2 5 5 9 21 31 21 31 5 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755422852 4 113824690 GA G 300 PASS ANK2 ENST00000506722 r.? - - Del intronic D 113824690 113824696 1 10 269.002 - - 5 1 1 ANK2|ENST00000506722|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ANK2|ENST00000506722|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 15 23 15 0 0 ./. 1 4 5 4 28 40 28 40 5 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755423331 4 115194327 TA T 480 PASS - - - - - Del - D 115194327 115194331 1 24 430.403 - - 3 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 3 8 6 21 25 21 25 8 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755423691 4 116215802 AAT A 389 PASS - - - - - Del - D 116215802 116215806 2 18 376.603 - - 1 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 5 2 6 20 31 20 31 2 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755427712 4 127683574 TGCAC T 749 PASS - - - - - Del - D 127683574 127683579 4 50 699.405 - - 1 1 1 - - ./. 0 0 0 0 25 18 25 18 0 0 ./. 4 9 4 10 29 26 29 26 4 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755429673 4 132929346 GA G 420 PASS - - - - - Del - D 132929346 132929352 1 14 376.603 - - 5 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 6 2 12 11 27 11 27 2 12 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755434266 4 146658532 TAAATAAAG T 261 PASS C4orf51 CCDS47140.1 r.? - - Del downstream D 146658532 146658543 8 30 484.204 - - 1 1 1 C4orf51|CCDS47140.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C4orf51|CCDS47140.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 19 25 19 25 0 0 ./. 5 4 7 4 36 30 36 30 7 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755435588 4 150798186 ACT A 360 PASS - - - - - Del - D 150798186 150798192 2 16 322.802 - - 2 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 3 4 3 26 25 26 25 4 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755446497 4 180500693 GT G 540 PASS - - - - - Del - D 180500693 180500698 1 24 483.602 - - 4 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 7 3 8 16 23 16 23 3 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755453208 5 2448695 TA T 360 PASS - - - - - Del - D 2448695 2448697 1 15 318.67 - - 1 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 2 5 4 43 33 43 33 5 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755462764 5 26863707 TAG T 480 PASS - - - - - Del - D 26863707 26863713 2 24 431.316 - - 2 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 3 5 4 5 24 24 24 24 4 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755462934 5 27367778 AG A 600 PASS - - - - - Del - D 27367778 27367780 1 36 536.134 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 5 5 9 10 24 36 24 36 9 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755463001 5 27553396 CAGA C 567 PASS - - - - - Del - D 27553396 27553400 3 42 593.059 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 5 6 6 23 17 23 17 6 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755463369 5 28551151 TC T 1200 PASS - - - - - Del - D 28551151 28551155 1 96 1074.68 - - 3 1 1 - - ./. 0 0 0 0 24 12 24 12 0 0 ./. 5 15 6 16 23 35 23 35 6 16 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755465009 5 32455990 CCT C 360 PASS - - - - - Del - D 32455990 32456009 2 7 323.487 - - 9 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 6 0 8 0 31 20 31 20 8 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755465541 5 33870897 TAA T 540 PASS ADAMTS12 ENST00000504830 r.? - - Del intronic D 33870897 33870902 2 28 485.23 - - 4 1 1 ADAMTS12|ENST00000504830|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS12|ENST00000504830|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 6 3 6 33 36 33 36 3 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755468254 5 41518123 CT C 420 PASS - - - - - Del - D 41518123 41518132 1 20 377.401 - - 8 1 1 - - ./. 0 0 0 0 27 5 27 5 0 0 ./. 4 3 7 4 35 29 35 29 7 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755468302 5 41672766 TC T 389 PASS - - - - - Del - D 41672766 41672772 1 18 376.197 - - 5 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 2 5 3 8 20 27 20 27 3 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755470278 5 51355467 AT A 319 PASS ENSG00000248789 ENST00000510583 r.? - - Del intronic D 51355467 51355474 1 18 481.618 - - 6 1 1 ENSG00000248789|ENST00000510583|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000248789|ENST00000510583|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 16 22 16 0 0 ./. 8 1 10 3 51 29 51 29 10 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755470552 5 52129358 AC A 1260 PASS ITGA1 CCDS3955.1 r.? - - Del intronic D 52129358 52129361 1 120 1132.2 - - 2 1 1 ITGA1|CCDS3955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGA1|CCDS3955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 14 7 19 8 41 30 41 30 19 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755471315 5 53850578 T TA 1620 PASS - - - - - Ins - I 53850578 53850585 1 204 1437.63 - - 6 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 16 11 22 12 51 24 52 26 22 12 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755472022 5 55241451 ACTT A 298 PASS IL6ST CCDS3971.1 r.? - - Del intronic D 55241451 55241456 3 12 309.639 - - 1 1 1 IL6ST|CCDS3971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL6ST|CCDS3971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 24 9 24 0 0 ./. 5 1 6 10 25 42 26 42 7 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755474366 5 61310360 CA C 600 PASS - - - - - Del - D 61310360 61310370 1 35 539.145 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 4 8 6 45 44 45 44 8 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755476112 5 65277913 TTTAGA T 420 PASS ERBB2IP CCDS34172.1 r.? - - Del intronic D 65277913 65277924 5 14 377.401 - - 2 1 1 ERBB2IP|CCDS34172.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ERBB2IP|CCDS34172.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 1 6 5 6 43 30 43 30 5 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755476843 5 68076076 A AT 540 PASS - - - - - Ins - I 68076076 68076084 1 30 473.189 - - 7 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 5 6 6 16 17 16 17 6 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755478549 5 75278580 CATAT C 1645 PASS - - - - - Del - D 75278580 75278588 4 240 1617.43 - - 3 1 1 - - ./. 0 0 0 0 10 27 10 27 0 0 ./. 19 11 26 12 58 43 58 43 26 12 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755479198 5 76439417 GA G 1289 PASS - - - - - Del - D 76439417 76439421 1 128 1181.3 - - 3 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 7 15 21 19 42 38 42 38 21 19 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755479554 5 77486205 TGACAAGTGAAGGGTG T 406 PASS AP3B1 CCDS4041.1 r.? - - Del intronic D 77486205 77486224 15 63 754.803 - - 1 1 1 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 8 6 8 6 42 36 42 36 8 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755479617 5 77667957 CT C 840 PASS - - - - - Del - D 77667957 77667959 1 60 754.803 - - 1 1 1 - - ./. 0 0 0 0 20 26 20 26 0 0 ./. 9 5 9 9 32 23 32 23 9 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755480351 5 79626255 TG T 300 PASS - - - - - Del - D 79626255 79626257 1 6 259.939 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 0 6 0 23 16 23 16 6 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755486177 5 104010814 GT G 960 PASS ENSG00000232402 ENST00000438939 r.? - - Del intronic D 104010814 104010819 1 81 861.427 - - 4 1 1 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 8 20 8 0 0 ./. 8 8 8 13 15 20 15 20 8 13 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755486913 5 107178932 GT G 749 PASS - - - - - Del - D 107178932 107178942 1 56 700.888 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 7 6 11 10 25 22 25 22 11 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755487256 5 108650871 GA G 720 PASS - - - - - Del - D 108650871 108650878 1 49 643.963 - - 6 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 6 6 11 14 22 24 22 24 11 14 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755487260 5 108684982 GTTTAAATAC G 580 PASS PJA2 CCDS4099.1 r.? - - Del intronic D 108684982 108684995 9 112 1078.29 - - 1 1 1 PJA2|CCDS4099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PJA2|CCDS4099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 9 23 9 0 0 ./. 13 7 18 7 21 15 22 15 19 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755488652 5 114610107 A AT 300 PASS CCDC112 CCDS34213.1 r.? - - Ins intronic I 114610107 114610117 1 12 262.95 - - 9 1 1 CCDC112|CCDS34213.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC112|CCDS34213.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 3 2 3 2 29 20 29 20 3 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755493446 5 132461085 CA C 660 PASS - - - - - Del - D 132461085 132461089 1 42 593.059 - - 3 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 6 5 9 8 23 15 23 15 9 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755496033 5 141938192 GTCAGACCTTTTTTTTTTTTTT G 290 PASS - - - - - Del - D 141938192 141938215 21 35 536.134 - - 1 1 - - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 4 6 4 4 7 10 7 12 4 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755497287 5 146901617 TA T 600 PASS - - - - - Del - D 146901617 146901625 1 32 539.145 - - 7 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 7 3 8 5 23 19 23 19 8 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755502240 5 165000952 CT C 360 PASS - - - - - Del - D 165000952 165000959 1 12 323.487 - - 6 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 5 1 5 2 20 18 20 18 5 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755502448 5 165808985 GTCTTT G 991 PASS ENSG00000229119 ENST00000449646 r.? - - Del upstream D 165808985 165808997 5 96 970.46 - - 2 1 1 ENSG00000229119|ENST00000449646|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000229119|ENST00000449646|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 16 18 16 18 0 0 ./. 11 7 12 7 21 10 21 10 12 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755503356 5 169044705 G GAT 300 PASS - - - - - Ins - I 169044705 169044724 2 10 263.552 - - 9 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 4 1 4 24 31 24 31 1 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755509381 6 5962141 AG A 960 PASS AL136307.1 ENST00000510466 r.? - - Del intronic D 5962141 5962143 1 80 861.952 - - 1 1 1 AL136307.1|ENST00000510466|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL136307.1|ENST00000510466|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 9 7 10 9 29 25 29 25 10 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755510357 6 7864391 TTC T 987 PASS BMP6 CCDS4503.1 r.? - - Del intronic D 7864391 7864395 2 99 968.492 - - 1 1 1 BMP6|CCDS4503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BMP6|CCDS4503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 8 10 13 11 32 35 32 35 13 11 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755511132 6 9616571 AG A 420 PASS ENSG00000228565 ENST00000455975 r.? - - Del intronic D 9616571 9616575 1 20 377.104 - - 3 1 1 ENSG00000228565|ENST00000455975|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000228565|ENST00000455975|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 3 6 5 26 31 26 31 6 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755517197 6 24592233 ATGT A 1138 PASS KIAA0319 CCDS34348.1 r.? - - Del intronic D 24592233 24592240 3 112 1077.44 - - 2 1 1 KIAA0319|CCDS34348.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0319|CCDS34348.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 7 13 10 14 30 35 30 35 10 14 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755518242 6 27572238 A AT 300 PASS - - - - - Ins - I 27572238 27572239 1 12 265.145 - - 0 1 1 - - ./. 0 0 0 0 11 11 12 11 0 0 ./. 3 2 3 3 38 29 38 29 3 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755518527 6 28844452 GT G 720 PASS - - - - - Del - D 28844452 28844454 1 40 645.862 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 9 3 13 37 34 37 34 3 13 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755518703 6 29609949 GAA G 300 PASS - - - - - Del - D 29609949 29609953 2 10 269.36 - - 3 1 - - - ./. 0 0 0 0 20 23 20 23 0 0 ./. 1 4 1 6 25 39 25 39 1 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755526145 6 46294375 TC T 420 PASS RCAN2 CCDS43469.1 r.? - - Del upstream D 46294375 46294377 1 20 377.104 - - 1 1 1 RCAN2|CCDS43469.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 RCAN2|ENST00000371374|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 3 9 8 37 33 37 33 9 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755526878 6 48374736 CA C 329 PASS - - - - - Del - D 48374736 48374744 1 15 312.997 - - 7 1 1 - - ./. 0 0 0 0 12 24 12 24 0 0 ./. 4 2 4 4 21 18 21 18 4 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755526895 6 48432461 GA G 360 PASS - - - - - Del - D 48432461 48432469 1 7 322.63 - - 7 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 6 0 6 1 29 17 29 17 6 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755527198 6 49463026 TA T 540 PASS CENPQ CCDS4925.1 r.? - - Del downstream D 49463026 49463029 1 28 484.246 - - 2 1 1 CENPQ|CCDS4925.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 GLYATL3|CCDS47440.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 7 16 7 0 0 ./. 6 3 9 8 26 23 26 23 9 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755535353 6 73441661 A AT 540 PASS KCNQ5 CCDS4976.1 r.? - - Ins intronic I 73441661 73441663 1 30 471 - - 1 1 1 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 5 5 7 24 36 25 36 5 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755535844 6 74493142 TA T 929 PASS CD109 CCDS4982.1 r.? - - Del intronic D 74493142 74493149 1 80 860.748 - - 6 1 1 CD109|CCDS4982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD109|CCDS4982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 9 7 12 7 30 26 30 26 12 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755537419 6 79358601 CT C 274 PASS - - - - - Del - D 79358601 79358604 1 16 323.232 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 3 4 5 29 36 29 36 4 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755538738 6 83374919 GAC G 360 PASS - - - - - Del - D 83374919 83374927 2 15 316.007 - - 3 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 2 4 2 25 14 25 14 4 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755540098 6 87713524 C CA 420 PASS HTR1E CCDS5006.1 r.? - - Ins intronic I 87713524 87713532 1 20 372.889 - - 7 1 1 HTR1E|CCDS5006.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 HTR1E|CCDS5006.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 19 28 20 0 0 ./. 3 4 5 5 25 30 26 30 5 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755541165 6 90271084 CT C 1049 PASS ANKRD6 CCDS47460.1 r.? - - Del intronic D 90271084 90271086 1 96 961.267 - - 1 1 1 ANKRD6|CCDS47460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ANKRD6|CCDS47460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 11 7 13 10 36 29 36 29 13 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755542689 6 95448592 AC A 660 PASS - - - - - Del - D 95448592 95448594 1 42 592.592 - - 1 1 1 - - ./. 0 0 0 0 24 15 24 15 0 0 ./. 5 6 9 8 31 23 31 23 9 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755542744 6 95845836 T TG 300 PASS - - - - - Ins - I 95845836 95845837 1 12 265.145 - - 0 1 1 - - ./. 0 0 0 0 13 12 15 12 0 0 ./. 3 2 4 6 30 29 30 29 4 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755543552 6 98284971 T TA 900 PASS - - - - - Ins - I 98284971 98284980 1 72 798.447 - - 8 1 1 - - ./. 0 0 0 0 16 24 17 24 0 0 ./. 7 8 7 15 22 44 22 44 7 15 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755549014 6 113795666 CT C 420 PASS - - - - - Del - D 113795666 113795674 1 18 377.104 - - 7 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 5 2 5 4 29 21 29 21 5 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755550640 6 118713178 TG T 1020 PASS - - - - - Del - D 118713178 118713180 1 70 912.211 - - 1 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 4 13 8 17 30 41 30 41 8 17 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755550667 6 118815238 GA G 900 PASS C6orf204 CCDS43498.1 r.? - - Del intronic D 118815238 118815246 1 72 808.08 - - 7 1 1 C6orf204|CCDS43498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf204|CCDS43498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 7 8 13 14 28 39 28 39 13 14 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755551994 6 122243225 AC A 720 PASS - - - - - Del - D 122243225 122243227 1 45 645.862 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 8 10 10 20 34 20 34 10 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755553423 6 126997753 CA C 518 PASS - - - - - Del - D 126997753 126997760 1 60 754.208 - - 6 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 9 5 10 6 25 24 27 24 12 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755560961 6 152271165 TAGTG T 1169 PASS ESR1 CCDS5234.1 r.? - - Del intronic D 152271165 152271173 4 117 1076.24 - - 1 1 1 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 8 12 10 14 26 29 26 29 10 14 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755565639 6 165546459 G GAT 360 PASS - - - - - Ins - I 165546459 165546461 2 16 316.007 - - 0 1 - - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 3 5 5 24 22 24 22 5 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755585440 7 54090764 A AG 420 PASS - - - - - Ins - I 54090764 54090765 1 20 371.988 - - 0 1 1 - - ./. 0 0 0 0 14 14 14 15 0 0 ./. 3 4 5 7 26 28 27 28 5 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755586035 7 55694840 C CA 509 PASS - - - - - Ins - I 55694840 55694845 1 24 469.583 - - 4 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 7 4 11 22 30 23 30 4 11 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755589944 7 66744167 TC T 265 PASS - - - - - Del - D 66744167 66744171 1 12 315.062 - - 3 1 - - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 1 5 1 14 15 14 15 5 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755590306 7 67437961 TA T 360 PASS - - - - - Del - D 67437961 67437968 1 16 323.491 - - 6 1 1 - - ./. 0 0 0 0 25 16 25 16 0 0 ./. 3 3 7 3 21 10 21 10 7 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755602504 7 104580353 CCCTT C 778 PASS - - - - - Del - D 104580353 104580359 4 55 752.404 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 10 4 13 8 20 17 20 17 13 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755609333 7 126641562 C CA 600 PASS GRM8 CCDS5794.1 r.? - - Ins intronic I 126641562 126641569 1 36 531.325 - - 6 1 1 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 5 5 9 7 24 30 24 31 9 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755613171 7 136316207 CTT C 540 PASS - - - - - Del - D 136316207 136316210 2 28 485.237 - - 2 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 6 3 7 3 29 26 29 26 7 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755615317 7 141888241 T TA 269 PASS ENSG00000204987 ENST00000477922 r.? - - Ins intronic I 141888241 141888251 1 10 266.566 - - 9 1 1 ENSG00000204987|ENST00000477922|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000204987|ENST00000477922|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 4 1 5 28 33 28 34 1 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755615337 7 141933260 CT C 540 PASS - - - - - Del - D 141933260 141933270 1 30 482.226 - - 9 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 5 4 5 31 30 31 30 4 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755617946 7 149225619 CCCTGAGTGAATACTCTTTTCTCCATTT C 261 PASS - - - - - Del - D 149225619 149225647 27 28 485.237 - - 1 1 1 - - ./. 0 0 0 0 15 4 15 4 0 0 ./. 3 6 1 4 18 18 20 20 3 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755620496 7 155162065 TA T 300 PASS BLACE ENST00000378120 r.? - - Del upstream D 155162065 155162067 1 12 268.372 - - 1 1 1 BLACE|ENST00000378120|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 BLACE|ENST00000378120|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 3 6 3 25 25 25 25 6 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755626421 8 13644712 AAAT A 449 PASS - - - - - Del - D 13644712 13644719 3 9 430.984 - - 2 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 0 8 1 10 8 19 8 19 1 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755630245 8 25932666 T TA 720 PASS - - - - - Ins - I 25932666 25932675 1 45 639.251 - - 8 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 8 4 10 4 21 17 21 17 10 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755631168 8 28536961 C CA 300 PASS - - - - - Ins - I 28536961 28536970 1 10 266.355 - - 8 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 1 4 2 5 12 22 12 22 2 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755633660 8 35708057 TG T 1483 PASS - - - - - Del - D 35708057 35708059 1 240 1616.19 - - 1 1 1 - - ./. 0 0 0 0 14 24 14 24 0 0 ./. 19 11 23 14 50 32 50 32 23 14 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755634231 8 37387082 GCA G 300 PASS - - - - - Del - D 37387082 37387099 2 10 268.763 - - 8 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 1 4 1 49 43 49 43 4 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755635497 8 38906536 TA T 420 PASS ADAM9 CCDS6112.1 r.? - - Del intronic D 38906536 38906538 1 8 371.09 - - 1 1 1 ADAM9|CCDS6112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM9|CCDS6112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 24 9 24 0 0 ./. 7 0 24 0 86 71 86 71 24 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755638111 8 47166632 GC G 720 PASS - - - - - Del - D 47166632 47166642 1 48 644.67 - - 9 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 7 14 14 32 38 32 38 14 14 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755639693 8 51550675 GGAA G 298 PASS SNTG1 CCDS6147.1 r.? - - Del intronic D 51550675 51550687 3 15 323.238 - - 3 1 1 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 2 5 3 29 27 29 27 5 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755640209 8 53049330 G GA 360 PASS ST18 CCDS6149.1 r.? - - Ins intronic I 53049330 53049340 1 7 316.615 - - 9 1 1 ST18|CCDS6149.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ST18|CCDS6149.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 21 18 21 0 0 ./. 0 6 0 8 43 71 43 71 0 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755642826 8 59804602 GA G 360 PASS TOX CCDS34897.1 r.? - - Del intronic D 59804602 59804612 1 12 323.238 - - 9 1 1 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 1 5 5 8 36 36 36 36 5 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755646385 8 70402578 CCACCCGCCTTGGCCTCCAAAGCA C 348 PASS SULF1 CCDS6204.1 r.? - - Del upstream D 70402578 70402603 23 45 646.476 - - 1 1 1 SULF1|CCDS6204.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SULF1|CCDS6204.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 16 21 16 0 0 ./. 8 4 7 4 15 21 16 21 8 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755648178 8 74617556 AT A 300 PASS STAU2 CCDS6214.1 r.? - - Del intronic D 74617556 74617566 1 10 268.763 - - 9 1 1 STAU2|CCDS6214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STAU2|CCDS6214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 1 4 1 4 42 54 42 54 1 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755649983 8 78690524 GATAAT G 292 PASS - - - - - Del - D 78690524 78690532 5 30 484.857 - - 1 1 1 - - ./. 0 0 0 0 15 24 15 24 0 0 ./. 4 5 4 5 39 49 39 49 4 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755650172 8 79102252 A AT 1800 PASS - - - - - Ins - I 79102252 79102261 1 252 1593.31 - - 8 1 1 - - ./. 0 0 0 0 22 16 23 16 0 0 ./. 17 13 23 24 56 57 56 58 23 24 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755651356 8 81868357 G GA 300 PASS AC012533.1 ENST00000501214 r.? - - Ins downstream I 81868357 81868367 1 10 265.151 - - 9 1 1 AC012533.1|ENST00000501214|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 AC012533.1|ENST00000501214|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 ./. 0 0 0 0 12 13 12 14 0 0 ./. 4 1 4 1 54 40 54 40 4 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755654215 8 88912139 C CA 960 PASS - - - - - Ins - I 88912139 88912148 1 80 852.335 - - 8 1 1 - - ./. 0 0 0 0 25 19 25 19 0 0 ./. 7 9 8 11 51 48 51 48 8 11 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755656542 8 95352918 A AAG 470 PASS - - - - - Ins - I 95352918 95352920 2 36 496.586 - - 0 1 - - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 5 5 7 16 35 51 35 51 7 16 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755662970 8 109106993 GTAAA G 689 PASS - - - - - Del - D 109106993 109107006 4 40 646.476 - - 3 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 3 9 5 10 50 42 50 42 5 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755663164 8 109582815 ATG A 300 PASS - - - - - Del - D 109582815 109582835 2 10 260.936 - - 9 1 1 - - ./. 0 0 0 0 20 23 20 23 0 0 ./. 1 4 1 5 53 43 53 43 1 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755665564 8 116462349 TGTGTAAC T 464 PASS TRPS1 CCDS6318.2 r.? - - Del intronic D 116462349 116462358 7 77 861.968 - - 1 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 10 6 12 7 27 27 27 27 12 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755667078 8 120379819 G GA 300 PASS - - - - - Ins - I 120379819 120379829 1 12 266.355 - - 9 1 1 - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 3 2 3 4 61 57 61 57 3 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755668359 8 123130419 AAC A 298 PASS - - - - - Del - D 123130419 123130439 2 7 316.615 - - 9 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 0 6 2 6 65 42 65 42 2 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755668939 8 124369963 AAAAC A 836 PASS ATAD2 CCDS6343.1 r.1500_1503delGUUU c.1392_1395delGTTT p.L464fs*27 Del frameshift D 124369963 124369974 4 72 861.968 - - 2 1 1 ATAD2|CCDS6343.1|r.1500_1503delGUUU|c.1392_1395delGTTT|p.L464fs*27|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ATAD2|CCDS6343.1|r.1500_1503delGUUU|c.1392_1395delGTTT|p.L464fs*27|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 10 17 10 17 0 0 ./. 5 11 7 12 51 56 51 56 7 12 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755670652 8 128105671 AG A 300 PASS - - - - - Del - D 128105671 128105673 1 12 269.365 - - 1 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 2 4 5 51 52 51 52 4 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755670949 8 128883205 GCCT G 300 PASS PVT1 CCDS3617.1 r.? - - Del intronic D 128883205 128883225 3 6 269.365 - - 6 1 1 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 0 5 0 34 21 34 21 5 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755676181 8 142010129 AG A 300 PASS PTK2 CCDS6381.1 r.? - - Del intronic D 142010129 142010131 1 6 268.763 - - 1 1 1 PTK2|CCDS6381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTK2|CCDS6381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 5 0 11 0 44 32 44 32 11 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755676529 8 143089951 ACACACACACACCCATCACCACACACAGACACACCACACCCACCATGCAGGCACCTACTGTGTGTGCACACACACCCATCACCCACACACAGACACACCACACCCACCGTGCAGGCACCTACTGTGTG A 261 PASS - - - - - Del - D 143089951 143090088 127 30 468.601 - - 1 1 - - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 5 4 0 0 57 43 57 43 5 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755677425 8 145231746 AG A 300 PASS HEATR7A CCDS47938.1 r.? - - Del intronic D 145231746 145231748 1 6 259.13 - - 1 1 1 HEATR7A|CCDS47938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HEATR7A|CCDS47938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 10 26 11 0 0 ./. 5 0 11 0 64 30 64 30 11 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755678612 9 3135886 GA G 269 PASS - - - - - Del - D 3135886 3135894 1 10 270.614 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 1 6 1 20 8 20 8 6 1 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755680454 9 9906577 GAC G 660 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 9906577 9906583 2 42 595.351 - - 2 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 6 21 6 0 0 ./. 5 6 5 6 23 24 23 24 5 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755684418 9 24220209 GA G 960 PASS - - - - - Del - D 24220209 24220217 1 72 865.364 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 11 7 13 10 26 10 26 7 13 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755687363 9 33824480 C CA 300 PASS UBE2R2 CCDS6546.1 r.? - - Ins intronic I 33824480 33824488 1 12 265.196 - - 7 1 1 UBE2R2|CCDS6546.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UBE2R2|CCDS6546.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 2 7 4 25 17 25 17 7 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755693308 9 73489767 T TA 600 PASS TRPM3 CCDS43835.1 r.? - - Ins intronic I 73489767 73489777 1 35 534.606 - - 9 1 1 TRPM3|CCDS43835.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRPM3|CCDS43835.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 6 6 11 18 22 18 22 6 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755693480 9 74130466 GA G 660 PASS - - - - - Del - D 74130466 74130472 1 22 595.351 - - 5 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 10 1 11 5 18 19 18 19 11 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755701460 9 103704659 CT C 480 PASS - - - - - Del - D 103704659 103704663 1 25 432.983 - - 3 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 4 4 5 18 23 18 23 4 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755704341 9 114088419 TCATCTACATTAGGTATTTCTCCCAATGCTAGCGTTAAGTAATCCAAAACTCAACATCTAATGCTAAAACTTTTAAAGTATTTTATATTTTTAATTTGTCCAGTGAGTTTA T 319 PASS OR2K2 CCDS6778.1 r.? - - Del downstream D 114088419 114088533 110 42 594.749 - - 1 1 1 OR2K2|CCDS6778.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OR2K2|CCDS6778.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 20 11 20 11 0 0 ./. 6 5 0 0 11 5 17 10 6 5 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755705879 9 118812519 CA C 360 PASS - - - - - Del - D 118812519 118812529 1 15 324.737 - - 9 1 1 - - ./. 0 0 0 0 21 11 21 11 0 0 ./. 4 2 6 3 24 14 24 14 6 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755707155 9 123897321 TC T 1109 PASS CEP110 CCDS35118.1 r.? - - Del intronic D 123897321 123897323 1 110 1028.33 - - 1 1 1 CEP110|CCDS35118.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CEP110|CCDS35118.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 9 10 12 13 16 31 16 31 12 13 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755711794 9 139329472 GCTCTCCAGGAACACAA GCTGT 406 PASS INPP5E CCDS7000.1 r.? - - Complex intronic DI 139329473 139329488 16 63 0 - - 0 1 1 INPP5E|CCDS7000.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 INPP5E|CCDS7000.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 8 0 0 13 10 13 10 6 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755712270 9 141071520 GTGTCTCAGAGCAGTTTACAGCAA G 261 PASS - - - - - Del - D 141071520 141071547 23 10 487.106 - - 1 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 9 0 9 0 27 30 27 30 9 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755713142 X 4854939 TA T 900 PASS - - - - - Del - D 4854939 4854947 1 66 808.377 - - 7 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 10 5 13 9 32 46 32 46 13 9 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755714045 X 7883359 GT G 360 PASS PNPLA4 CCDS14129.1 r.? - - Del intronic D 7883359 7883361 1 7 322.508 - - 1 1 1 PNPLA4|CCDS14129.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PNPLA4|CCDS14129.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 6 0 11 0 30 17 30 17 11 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755715155 X 11816436 AT A 660 PASS - - - - - Del - D 11816436 11816440 1 36 593.974 - - 3 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 8 3 10 7 32 23 32 23 10 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755716325 X 15997302 AACTTCATC A 261 PASS - - - - - Del - D 15997302 15997314 8 30 486.471 - - 1 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 5 4 5 4 34 26 34 26 5 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755721608 X 35271912 A AT 1380 PASS - - - - - Ins - I 35271912 35271918 1 156 1229.36 - - 5 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 11 12 16 12 33 33 34 33 16 12 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755721787 X 35962305 CTG C 840 PASS CXorf22 CCDS14237.2 r.? - - Del intronic D 35962305 35962309 2 64 756.733 - - 1 1 1 CXorf22|CCDS14237.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CXorf22|CCDS14237.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 7 7 9 11 25 25 25 25 9 11 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755722672 X 40370866 A ATATT 389 PASS - - - - - Ins - I 40370866 40370886 4 18 361.509 - - 4 1 1 - - ./. 0 0 0 0 24 21 24 21 0 0 ./. 5 2 5 3 38 37 39 37 5 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755726358 X 53713019 ATG A 300 PASS HUWE1 CCDS35301.1 r.? - - Del upstream D 53713019 53713035 2 12 269.66 - - 7 1 1 HUWE1|CCDS35301.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 HUWE1|CCDS35301.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 26 15 26 0 0 ./. 3 2 3 2 24 33 24 33 3 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755726719 X 54751786 TC T 1166 PASS - - - - - Del - D 54751786 54751791 1 120 1081.05 - - 4 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 9 11 11 12 38 28 38 28 11 12 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755727677 X 62521712 AG A 720 PASS - - - - - Del - D 62521712 62521718 1 49 648.628 - - 5 1 1 - - ./. 0 0 0 0 22 18 22 18 0 0 ./. 6 6 8 10 31 30 31 30 8 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755728193 X 65454870 GC G 840 PASS HEPH CCDS14384.2 r.? - - Del intronic D 65454870 65454874 1 64 756.733 - - 3 1 1 HEPH|CCDS14384.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HEPH|CCDS14384.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 7 7 14 10 35 25 35 25 14 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755728932 X 68396170 G GA 660 PASS - - - - - Ins - I 68396170 68396175 1 42 587.953 - - 4 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 5 6 5 6 36 38 37 39 5 6 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755729743 X 70869110 ACTTGCT A 261 PASS - - - - - Del - D 70869110 70869120 6 30 486.471 - - 1 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 4 5 3 7 19 21 20 22 4 8 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755733455 X 85037336 GA G 600 PASS - - - - - Del - D 85037336 85037344 1 35 540.524 - - 7 1 1 - - ./. 0 0 0 0 23 15 23 15 0 0 ./. 6 4 8 10 27 34 27 34 8 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755736018 X 94399433 AC A 420 PASS - - - - - Del - D 94399433 94399435 1 20 378.367 - - 1 1 1 - - ./. 0 0 0 0 19 25 19 25 0 0 ./. 4 3 6 4 24 24 24 24 6 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755737438 X 99869183 GTTTT G 569 PASS - - - - - Del - D 99869183 99869191 4 35 540.524 - - 7 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 6 4 7 4 19 32 19 32 7 4 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755737605 X 100314533 GA G 540 PASS - - - - - Del - D 100314533 100314542 1 30 486.471 - - 8 1 1 - - ./. 0 0 0 0 22 21 22 21 0 0 ./. 4 5 8 7 35 35 35 35 8 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755744391 X 125545335 AC A 480 PASS - - - - - Del - D 125545335 125545337 1 24 432.419 - - 1 1 1 - - ./. 0 0 0 0 19 24 19 24 0 0 ./. 3 5 5 7 18 26 18 26 5 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755746167 X 133111409 CCTT C 958 PASS GPC3 CCDS14638.1 r.? - - Del intronic D 133111409 133111415 3 84 918.288 - - 1 1 1 GPC3|CCDS14638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC3|CCDS14638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 11 6 12 7 28 19 29 19 13 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755746192 X 133176489 CT C 300 PASS - - - - - Del - D 133176489 133176499 1 12 267.252 - - 9 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 2 4 3 28 24 28 24 4 3 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755746927 X 135799943 TGTATA T 687 PASS ARHGEF6 CCDS14660.1 r.? - - Del intronic D 135799943 135799953 5 44 700.875 - - 1 1 1 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 10 4 10 22 23 22 23 4 10 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755747856 X 139136136 G GC 360 PASS - - - - - Ins - I 139136136 139136144 1 15 320.702 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 2 5 2 26 21 28 21 5 2 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755751056 X 151028493 TC T 329 PASS - - - - - Del - D 151028493 151028495 1 7 314.681 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 0 6 0 28 24 28 24 6 0 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755751176 X 151579087 AATT A 540 PASS GABRA3 CCDS14706.1 r.? - - Del intronic D 151579087 151579095 3 28 486.471 - - 2 1 1 GABRA3|CCDS14706.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GABRA3|CCDS14706.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 6 7 7 16 22 16 22 7 7 1 1 1 1 1 1 1 1 2772590 PD7308a PD7308b 2755751478 X 153000622 CTTGATGGACATT C 319 PASS ABCD1 CCDS14728.1 r.? - - Del intronic D 153000622 153000638 12 40 594.576 - - 1 1 1 ABCD1|CCDS14728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCD1|CCDS14728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 7 4 8 33 31 33 31 4 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756841342 1 27105930 T TG 720 PASS ARID1A CCDS285.1 r.5912_5913insg c.5541_5542insG p.D1850fs*4 Ins frameshift I 27105930 27105938 1 48 637.401 - - 7 1 1 ARID1A|CCDS285.1|r.5912_5913insg|c.5541_5542insG|p.D1850fs*4|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ARID1A|CCDS285.1|r.5912_5913insg|c.5541_5542insG|p.D1850fs*4|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 9 9 9 9 0 0 ./. 7 5 11 7 26 15 26 15 11 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756849512 1 63110702 T TA 780 PASS DOCK7 CCDS30734.1 r.? - - Ins intronic I 63110702 63110711 1 56 691.171 - - 8 1 1 DOCK7|CCDS30734.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK7|CCDS30734.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 6 7 6 8 19 15 20 15 6 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756853135 1 79305393 C CA 540 PASS - - - - - Ins - I 79305393 79305401 1 28 478.503 - - 7 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 3 6 4 8 10 13 10 13 4 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756859912 1 107354009 A AT 600 PASS - - - - - Ins - I 107354009 107354019 1 32 530.466 - - 9 1 1 - - ./. 0 0 0 0 12 8 12 9 0 0 ./. 3 7 5 7 14 19 14 19 5 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756862153 1 117026688 GCAGGAGGGGGAGGGCTCCAGGAAA G 377 PASS - - - - - Del - D 117026688 117026714 24 54 698.395 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 8 4 7 16 21 17 22 5 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756862532 1 118688875 ACT A 480 PASS SPAG17 CCDS899.1 r.? - - Del intronic D 118688875 118688883 2 16 430.152 - - 3 1 1 SPAG17|CCDS899.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG17|CCDS899.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 7 1 8 2 27 22 27 22 8 2 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756863857 1 142634650 CCTT C 307 PASS - - - - - Del - D 142634650 142634656 3 11 532.272 - - 1 1 - - - ./. 0 0 0 0 48 54 48 54 0 0 ./. 10 0 12 0 147 148 147 148 12 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756864100 1 142808281 AAG A 270 PASS - - - - - Del - D 142808281 142808286 2 14 698.997 - - 2 1 1 - - ./. 0 0 0 0 144 102 144 102 0 0 ./. 13 0 12 0 168 89 170 89 14 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756872945 1 166247043 G GT 540 PASS - - - - - Ins - I 166247043 166247052 1 30 478.503 - - 8 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 4 5 8 10 33 49 33 50 8 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756876952 1 178984642 A AG 509 PASS - - - - - Ins - I 178984642 178984644 1 24 477.299 - - 1 1 1 - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 2 7 5 8 22 40 22 40 5 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756886719 1 208358093 T TAC 300 PASS PLXNA2 CCDS31013.1 r.? - - Ins intronic I 208358093 208358112 2 12 259.814 - - 9 1 1 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 3 2 5 3 35 48 36 50 5 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756891449 1 222991031 CT C 720 PASS - - - - - Del - D 222991031 222991035 1 48 645.228 - - 3 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 7 6 9 25 26 25 26 6 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756893432 1 228043671 GC G 420 PASS - - - - - Del - D 228043671 228043675 1 18 376.383 - - 3 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 2 6 4 23 23 23 23 6 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756893601 1 228806423 CCCCACTCAAATCTCATGTCGAGTTGTGAT C 319 PASS - - - - - Del - D 228806423 228806453 29 36 591.459 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 8 2 6 31 31 32 33 3 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756893669 1 229070648 C CTGGGTACT 261 PASS - - - - - Ins - I 229070648 229070657 8 30 440.573 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 4 5 4 30 27 30 27 5 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756898985 1 242788981 C CA 900 PASS - - - - - Ins - I 242788981 242788990 1 70 797.505 - - 8 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 9 6 11 10 52 33 54 33 11 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756904183 10 7047066 G GA 329 PASS - - - - - Ins - I 7047066 7047075 1 15 319.879 - - 8 1 1 - - ./. 0 0 0 0 12 24 12 24 0 0 ./. 4 2 4 4 34 38 34 38 4 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756916184 10 42421720 AGGCATTGCCTCATTCGGGAAGTGCAAGG A 357 PASS - - - - - Del - D 42421720 42421751 28 54 695.48 - - 1 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 8 3 7 15 28 17 29 5 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756916999 10 43690067 C CA 457 PASS RASGEF1A CCDS7202.2 r.3151_3152insu c.? p.? Ins 3'UTR variant I 43690067 43690069 1 24 426.506 - - 1 1 1 RASGEF1A|CCDS7202.2|r.3151_3152insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 RASGEF1A|CCDS7202.2|r.3151_3152insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 5 4 6 27 36 28 36 4 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756927791 10 82786271 TAAC T 540 PASS - - - - - Del - D 82786271 82786280 3 18 485.238 - - 2 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 8 1 10 7 18 7 18 1 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756928182 10 84360083 G GA 660 PASS NRG3 CCDS31233.1 r.? - - Ins intronic I 84360083 84360092 1 42 585.844 - - 8 1 1 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 25 11 25 0 0 ./. 5 6 7 7 24 28 24 28 7 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756930903 10 94123056 C CA 480 PASS - - - - - Ins - I 94123056 94123061 1 25 423.496 - - 4 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 4 7 4 31 29 31 29 7 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756939046 10 120406676 G GT 260 PASS - - - - - Ins - I 120406676 120406686 1 28 479.819 - - 9 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 6 5 9 29 38 30 38 5 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756950935 11 21707490 A AAAATC 261 PASS - - - - - Ins - I 21707490 21707494 5 10 458.798 - - 0 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 9 0 9 0 41 19 41 20 9 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756955410 11 35636456 T TG 300 PASS FJX1 CCDS44570.1 r.? - - Ins upstream I 35636456 35636464 1 12 260.641 - - 7 1 1 FJX1|CCDS44570.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 FJX1|CCDS44570.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 7 15 7 15 0 0 ./. 2 3 2 7 23 30 23 30 2 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756958204 11 44971931 CGG C 1020 PASS TP53I11 CCDS7911.1 r.? - - Del intronic D 44971931 44971937 2 84 911.105 - - 5 1 1 TP53I11|CCDS7911.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TP53I11|CCDS7911.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 11 6 15 9 48 24 48 24 15 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756958532 11 46261928 AC A 360 PASS - - - - - Del - D 46261928 46261932 1 16 324.329 - - 3 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 3 6 6 17 17 17 17 6 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756961026 11 56899943 CCAGCACTTTG C 464 PASS - - - - - Del - D 56899943 56899954 10 80 861.867 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 7 9 7 10 26 28 26 28 7 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756961249 11 57600412 ATGGGTACACCAAGTT A 435 PASS - - - - - Del - D 57600412 57600429 15 66 809.016 - - 1 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 5 10 4 10 12 25 13 25 5 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756962280 11 61259492 G GGACT 534 PASS C11orf66 CCDS8008.1 r.? - - Ins downstream I 61259492 61259498 4 45 599.891 - - 1 1 1 C11orf66|CCDS8008.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 C11orf66|CCDS8008.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 8 3 8 26 33 27 33 4 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756965218 11 70318103 TG T 900 PASS SHANK2 ENST00000338508 r.6402delC c.? p.? Del 3'UTR variant D 70318103 70318106 1 72 810.822 - - 2 1 1 SHANK2|ENST00000338508|r.6402delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SHANK2|ENST00000338508|r.6402delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 10 14 10 0 0 ./. 8 7 9 9 36 23 36 23 9 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756967144 11 76803921 GA G 600 PASS CAPN5 CCDS8248.1 r.? - - Del intronic D 76803921 76803923 1 36 533.925 - - 1 1 1 CAPN5|CCDS8248.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAPN5|CCDS8248.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 5 8 8 39 41 39 41 8 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756976364 11 110728927 G GT 660 PASS - - - - - Ins - I 110728927 110728936 1 42 583.164 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 5 8 6 23 14 24 14 8 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756977196 11 114003391 AGCAAC A 689 PASS ZBTB16 CCDS8367.1 r.? - - Del intronic D 114003391 114003398 5 49 648.658 - - 1 1 1 ZBTB16|CCDS8367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZBTB16|CCDS8367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 6 6 7 6 21 12 21 12 7 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756994989 12 39127374 TA T 720 PASS CPNE8 CCDS8733.1 r.? - - Del intronic D 39127374 39127376 1 33 648.495 - - 1 1 1 CPNE8|CCDS8733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPNE8|CCDS8733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 10 2 12 3 28 8 28 8 12 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2756997922 12 49744714 CTAT C 323 PASS DNAJC22 CCDS8785.1 r.? - - Del intronic D 49744714 49744721 3 15 324.248 - - 2 1 1 DNAJC22|CCDS8785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC22|CCDS8785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 4 2 5 6 26 6 26 2 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757007129 12 83393401 AAG A 300 PASS TMTC2 CCDS9025.1 r.? - - Del intronic D 83393401 83393421 2 12 264.186 - - 9 1 1 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 3 3 3 25 22 25 22 3 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757014837 12 109914679 TCATTTTCCAC T 377 PASS UBE3B CCDS9129.1 r.? - - Del upstream D 109914679 109914691 10 50 700.128 - - 1 1 1 UBE3B|CCDS9129.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KCTD10|CCDS9128.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 9 5 8 18 28 18 29 5 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757016268 12 115316209 T TCCTTATTTCCTTCCTCCCTC 261 PASS - - - - - Ins - I 115316209 115316214 20 24 378.001 - - 0 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 2 7 0 0 9 22 11 25 2 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757016619 12 116453841 ATT A 660 PASS MED13L CCDS9177.1 r.? - - Del intronic D 116453841 116453846 2 42 594.454 - - 4 1 1 MED13L|CCDS9177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MED13L|CCDS9177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 6 5 7 10 22 21 22 21 7 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757017003 12 117430704 C CT 900 PASS FBXW8 CCDS9182.1 r.? - - Ins intronic I 117430704 117430711 1 72 800.986 - - 6 1 1 FBXW8|CCDS9182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBXW8|CCDS9182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 3 11 3 0 0 ./. 7 8 13 8 20 23 21 24 13 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757021891 12 130256969 AG A 929 PASS TMEM132D CCDS9266.1 r.? - - Del intronic D 130256969 130256976 1 80 864.66 - - 6 1 1 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 7 9 10 13 24 27 24 27 10 13 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757032461 13 51393295 AT A 660 PASS DLEU7 ENST00000400393 r.? - - Del intronic D 51393295 51393301 1 42 597.115 - - 5 1 1 DLEU7|ENST00000400393|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLEU7|ENST00000400393|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 6 5 9 19 18 19 18 5 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757048418 13 113986597 G GCACACGCACGCCACACACAGGTACACACGTGCA 300 PASS GRTP1 CCDS9534.2 r.? - - Ins intronic I 113986597 113986603 33 10 172.076 - - 0 1 - GRTP1|CCDS9534.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRTP1|CCDS9534.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 1 0 0 43 29 48 30 4 1 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757049338 14 20724414 CCT C 300 PASS - - - - - Del - D 20724414 20724431 2 12 271.059 - - 8 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 3 3 3 29 29 29 29 3 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757051536 14 27582048 A AT 300 PASS - - - - - Ins - I 27582048 27582055 1 6 268.048 - - 6 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 0 5 0 7 8 22 8 22 0 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757053023 14 32542871 TAA T 660 PASS ARHGAP5 CCDS32062.1 r.? - - Del upstream D 32542871 32542875 2 40 596.329 - - 3 1 1 ARHGAP5|CCDS32062.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ARHGAP5|CCDS32062.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 10 13 10 0 0 ./. 7 4 9 4 27 18 27 18 9 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757054328 14 36113111 TG T 600 PASS RALGAPA1 CCDS32065.1 r.? - - Del intronic D 36113111 36113116 1 35 542.117 - - 4 1 1 RALGAPA1|CCDS32065.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RALGAPA1|CCDS32065.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 6 10 13 23 43 23 43 10 13 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757064474 14 68949887 GTACCACTTCC G 493 PASS RAD51L1 CCDS9789.1 r.? - - Del intronic D 68949887 68949899 10 70 918.589 - - 1 1 1 RAD51L1|CCDS9789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAD51L1|CCDS9789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 3 10 3 0 0 ./. 13 4 14 4 31 25 31 25 14 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757067532 14 77846388 C CA 300 PASS C14orf174 CCDS32126.1 r.? - - Ins intronic I 77846388 77846396 1 12 268.048 - - 7 1 1 C14orf174|CCDS32126.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C14orf174|CCDS32126.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 15 10 0 0 ./. 3 2 6 5 25 23 25 24 6 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757069274 14 84013956 CAT C 300 PASS - - - - - Del - D 84013956 84013959 2 6 265.038 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 0 7 2 23 13 23 13 7 2 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757072180 14 93337010 TACTC T 585 PASS - - - - - Del - D 93337010 93337018 4 54 704.752 - - 1 1 1 - - ./. 0 0 0 0 5 14 5 16 0 0 ./. 5 8 6 10 22 27 22 30 6 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757073233 14 96858208 A ACCC 269 PASS AK7 CCDS9945.1 r.? - - Ins upstream I 96858208 96858215 3 6 257.211 - - 6 1 - AK7|CCDS9945.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 AK7|CCDS9945.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 4 9 4 9 0 0 ./. 0 5 0 6 9 26 9 26 0 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757078804 15 26514273 CT C 360 PASS - - - - - Del - D 26514273 26514281 1 15 326.097 - - 7 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 2 4 7 5 13 13 13 13 7 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757085809 15 55786646 GTTGCGCAGGCTGGAGTGCAGTGGTGAGATCTCAGCTCGCTGCAACCTCCACCACCCGGGT G 377 PASS DYX1C1 CCDS10154.1 r.? - - Del intronic D 55786646 55786708 60 26 706.544 - - 1 1 1 DYX1C1|CCDS10154.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DYX1C1|CCDS10154.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 2 24 2 0 0 ./. 12 1 0 0 9 6 21 7 12 1 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757088125 15 64641478 T TG 420 PASS CSNK1G1 CCDS10192.2 r.? - - Ins intronic I 64641478 64641481 1 20 376.232 - - 2 1 1 CSNK1G1|CCDS10192.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CSNK1G1|CCDS10192.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 4 7 8 22 16 22 16 7 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757091418 15 77410246 A AT 540 PASS ENSG00000173517 CCDS42062.1 r.? - - Ins intronic I 77410246 77410252 1 30 483.125 - - 5 1 1 ENSG00000173517|CCDS42062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000173517|CCDS42062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 11 0 0 ./. 4 5 5 5 14 17 14 17 5 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757098413 16 2178705 TC T 486 PASS PKD1 CCDS32369.1 r.? - - Del intronic D 2178705 2178708 1 30 487.252 - - 2 1 1 PKD1|CCDS32369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKD1|CCDS32369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 4 10 8 29 22 29 22 10 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757099075 16 4065975 AT A 300 PASS ADCY9 CCDS32382.1 r.? - - Del intronic D 4065975 4065977 1 10 271.03 - - 1 1 1 ADCY9|CCDS32382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY9|CCDS32382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 4 1 5 24 23 24 23 1 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757110870 16 34290830 G GT 480 PASS CCNYL3 ENST00000407030 r.? - - Ins intronic I 34290830 34290839 1 21 427.025 - - 8 1 1 CCNYL3|ENST00000407030|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCNYL3|ENST00000407030|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 10 19 11 0 0 ./. 6 2 6 3 16 10 16 10 6 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757115927 16 63518445 C CT 332 PASS - - - - - Ins - I 63518445 63518454 1 14 373.421 - - 8 1 1 - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 1 6 1 7 6 26 6 26 1 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757116975 16 68849477 AC A 660 PASS CDH1 CCDS10869.1 r.1572delC c.1381delC p.P461fs*20 Del frameshift D 68849477 68849480 1 42 596.266 - - 2 1 1 CDH1|CCDS10869.1|r.1572delC|c.1381delC|p.P461fs*20|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CDH1|CCDS10869.1|r.1572delC|c.1381delC|p.P461fs*20|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 12 5 12 5 0 0 ./. 5 6 6 8 21 23 21 23 6 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757145756 17 66437351 C CT 600 PASS WIPI1 CCDS11677.1 r.? - - Ins intronic I 66437351 66437353 1 32 529.034 - - 1 1 1 WIPI1|CCDS11677.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WIPI1|CCDS11677.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 7 7 9 21 27 23 28 7 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757152862 18 3863815 CA C 540 PASS DLGAP1 CCDS11836.1 r.? - - Del intronic D 3863815 3863817 1 28 487.059 - - 1 1 1 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 6 5 7 24 35 24 35 5 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757154267 18 8920371 G GAAATAATC 290 PASS - - - - - Ins - I 8920371 8920381 8 32 494.35 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 7 3 7 3 24 33 24 33 7 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757157553 18 21107362 CA C 300 PASS NPC1 CCDS11878.1 r.? - - Del downstream D 21107362 21107372 1 12 259.818 - - 9 1 1 NPC1|CCDS11878.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C18orf8|CCDS32803.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 3 2 17 22 17 22 3 2 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757157708 18 21694215 A AAGGAGAAGGCGGGTGCGAGCTGAGCCCTTAACACCTGAGCAAAGGAGAGAACGCTGG 360 PASS TTC39C CCDS45839.1 r.? - - Ins intronic I 21694215 21694225 57 15 119.604 - - 0 1 1 TTC39C|CCDS45839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC39C|CCDS45839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 4 0 0 31 32 31 32 2 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757157709 18 21694231 T TGAGCTGAGCCCTTAACACCTGAGCAAAGGAGAGAACGCTGGAGGAGAAGGCGGGTGC 360 PASS TTC39C CCDS45839.1 r.? - - Ins intronic I 21694231 21694285 57 16 119.604 - - 0 1 1 TTC39C|CCDS45839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC39C|CCDS45839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 3 0 0 41 51 41 51 3 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757161751 18 37538827 ATG A 300 PASS - - - - - Del - D 37538827 37538842 2 12 269.451 - - 7 1 - - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 2 9 8 27 30 27 30 9 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757166603 18 54607599 TTTACAATAGACCTTGTATCCTA T 348 PASS WDR7 CCDS11962.1 r.? - - Del intronic D 54607599 54607623 22 48 651.018 - - 1 1 1 WDR7|CCDS11962.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR7|CCDS11962.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 7 5 7 15 25 15 25 5 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757167439 18 57086131 G GT 540 PASS - - - - - Ins - I 57086131 57086139 1 28 482.845 - - 7 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 6 5 8 19 28 19 29 5 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757179222 19 11817446 TC T 360 PASS - - - - - Del - D 11817446 11817448 1 7 310.935 - - 1 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 6 0 8 0 24 22 24 22 8 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757188652 19 38509412 AC A 960 PASS SIPA1L3 CCDS33007.1 r.? - - Del intronic D 38509412 38509415 1 80 867.691 - - 2 1 1 SIPA1L3|CCDS33007.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SIPA1L3|CCDS33007.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 7 9 10 10 24 28 24 28 10 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757196715 19 58699485 CT C 300 PASS ZNF274 ENST00000326804 r.? - - Del intronic D 58699485 58699495 1 12 271.153 - - 9 1 1 ZNF274|ENST00000326804|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF274|ENST00000326804|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 15 5 15 0 0 ./. 3 2 3 2 20 28 20 28 3 2 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757199265 2 8714015 CAGCCTGGGA C 551 PASS - - - - - Del - D 8714015 8714026 9 110 1020.44 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 9 10 10 10 30 28 30 28 10 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757208711 2 40499733 GC G 480 PASS SLC8A1 CCDS1806.1 r.? - - Del intronic D 40499733 40499736 1 24 430.674 - - 2 1 1 SLC8A1|CCDS1806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC8A1|CCDS1806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 5 3 5 4 26 25 26 25 5 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757212855 2 55577517 T TA 540 PASS CCDC88A CCDS33203.1 r.? - - Ins intronic I 55577517 55577521 1 24 479.089 - - 3 1 1 CCDC88A|CCDS33203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC88A|CCDS33203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 2 10 2 10 0 0 ./. 2 7 3 10 5 14 5 14 3 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757213427 2 57862863 G GGA 360 PASS - - - - - Ins - I 57862863 57862866 2 15 315.781 - - 1 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 4 3 5 17 13 17 14 3 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757213467 2 58118560 CAATGGTGAATAGGGCTGTGTTACATGTCTGCATTCTGGGCCTTTAGAGACTG C 290 PASS - - - - - Del - D 58118560 58118613 52 35 537.138 - - 1 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 6 0 1 17 13 21 18 4 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757213468 2 58124651 C CA 720 PASS - - - - - Ins - I 58124651 58124657 1 49 638.184 - - 5 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 6 6 6 9 18 22 18 22 6 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757214948 2 64493049 GAC G 300 PASS - - - - - Del - D 64493049 64493066 2 12 269.171 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 2 2 31 27 31 27 2 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757216171 2 68765719 CTA C 360 PASS APLF CCDS1888.1 r.? - - Del intronic D 68765719 68765724 2 16 323.005 - - 2 1 1 APLF|CCDS1888.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APLF|CCDS1888.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 3 5 4 13 18 13 18 5 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757221699 2 91745516 T TAGGGCCAGGGCAGGGC 272 PASS - - - - - Ins - I 91745516 91745533 16 19 793.214 - - 1 1 - - - ./. 0 0 0 0 29 40 30 41 0 0 ./. 0 18 0 7 100 129 104 134 0 18 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757230010 2 125206943 C CA 480 PASS CNTNAP5 CCDS46401.1 r.? - - Ins intronic I 125206943 125206952 1 24 424.653 - - 8 1 1 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 3 5 9 7 25 19 26 20 9 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757245264 2 180195989 AC A 300 PASS - - - - - Del - D 180195989 180195992 1 12 269.171 - - 2 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 2 3 4 6 22 28 22 28 4 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757247164 2 187882481 AT A 1020 PASS - - - - - Del - D 187882481 187882489 1 90 915.182 - - 7 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 9 8 10 10 25 21 25 21 10 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757250860 2 201607735 ACC A 300 PASS - - - - - Del - D 201607735 201607741 2 10 268.569 - - 5 1 - - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 4 1 7 3 19 22 19 23 7 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757251737 2 204416647 GC G 629 PASS - - - - - Del - D 204416647 204416649 1 30 590.972 - - 1 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 9 2 11 4 21 6 21 6 11 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757253659 2 211596196 G GT 480 PASS - - - - - Ins - I 211596196 211596198 1 24 425.857 - - 1 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 5 4 7 23 26 23 26 4 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757261369 2 238695805 CACTCCTA C 319 PASS - - - - - Del - D 238695805 238695816 7 30 591.574 - - 1 1 1 - - ./. 0 0 0 0 18 5 18 5 0 0 ./. 9 2 11 2 28 14 28 14 11 2 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757261392 2 238774723 TATTAACTGGTCAGGGAGG T 290 PASS RAMP1 CCDS2522.1 r.? - - Del intronic D 238774723 238774746 18 35 537.74 - - 1 1 1 RAMP1|CCDS2522.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAMP1|CCDS2522.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 4 6 4 21 31 21 31 6 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757272712 20 32524663 CG C 420 PASS - - - - - Del - D 32524663 32524668 1 20 380.443 - - 4 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 3 4 5 8 9 29 9 29 5 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757273039 20 33585145 T TGGA 480 PASS MYH7B CCDS42869.1 r.3667_3668insgga c.3575_3576insGGA p.E1194_L1195insE Ins inframe I 33585145 33585153 3 9 416.128 - - 2 1 1 MYH7B|CCDS42869.1|r.3667_3668insgga|c.3575_3576insGGA|p.E1194_L1195insE|protein_coding:CDS:exon:insertion:inframe_variant:inframe_codon_gain|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001650:SO:0001651 MYH7B|CCDS42869.1|r.3667_3668insgga|c.3575_3576insGGA|p.E1194_L1195insE|protein_coding:CDS:exon:insertion:inframe_variant:inframe_codon_gain|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001650:SO:0001651 ./. 0 0 0 0 12 9 12 9 0 0 ./. 8 0 12 0 36 14 37 14 12 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757280346 20 57745206 A AT 720 PASS - - - - - Ins - I 57745206 57745212 1 45 644.963 - - 5 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 8 7 9 27 34 27 34 7 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757292402 21 35202475 CGT C 420 PASS ITSN1 CCDS33545.1 r.? - - Del intronic D 35202475 35202490 2 20 380.849 - - 7 1 1 ITSN1|CCDS33545.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITSN1|CCDS33545.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 4 3 6 4 19 18 19 18 6 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757292629 21 35831820 AACTT A 358 PASS KCNE1 CCDS13636.1 r.76+3_76+6delaagu c.? p.? Del protein_coding:five_prime_UTR:extended_intronic_splice_region:extended_cis_splice_site:deletion:5_prime_UTR_variant:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant D 35831820 35831827 4 20 377.839 - - 1 1 1 KCNE1|CCDS13636.1|r.76+3_76+6delaagu|c.?|p.?|protein_coding:five_prime_UTR:extended_intronic_splice_region:extended_cis_splice_site:deletion:5_prime_UTR_variant:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000204:SO:CGPX05:SO:CGPX06:SO:0000159:SO:0001623:SO:CGPX04:SO:CGPX03:SO:0001576 KCNE1|CCDS13636.1|r.76+3_76+6delaagu|c.?|p.?|protein_coding:five_prime_UTR:extended_intronic_splice_region:extended_cis_splice_site:deletion:5_prime_UTR_variant:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000204:SO:CGPX05:SO:CGPX06:SO:0000159:SO:0001623:SO:CGPX04:SO:CGPX03:SO:0001576 ./. 0 0 0 0 10 3 10 3 0 0 ./. 4 3 4 4 28 15 28 15 4 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757295245 21 43251889 TGCCAGG T 261 PASS PRDM15 CCDS42932.1 r.? - - Del intronic D 43251889 43251898 6 24 489.061 - - 1 1 1 PRDM15|CCDS42932.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRDM15|CCDS42932.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 7 0 0 24 37 24 37 2 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757310199 3 10234432 GTC G 1020 PASS IRAK2 CCDS33697.1 r.? - - Del intronic D 10234432 10234438 2 84 908.003 - - 2 1 1 IRAK2|CCDS33697.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IRAK2|CCDS33697.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 11 6 15 8 22 22 22 22 15 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757324763 3 66767782 AG A 1289 PASS - - - - - Del - D 66767782 66767784 1 144 1184.94 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 11 11 13 13 23 23 23 23 13 13 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757329396 3 81429675 CACATTATGT C 435 PASS - - - - - Del - D 81429675 81429690 9 72 806.739 - - 1 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 8 7 11 7 19 24 19 25 11 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757330713 3 87814385 GAT G 540 PASS - - - - - Del - D 87814385 87814389 2 30 485.488 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 4 6 4 13 11 13 11 6 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757341539 3 133296008 G GT 509 PASS CDV3 CCDS46918.1 r.? - - Ins intronic I 133296008 133296017 1 24 478.866 - - 8 1 1 CDV3|CCDS46918.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDV3|CCDS46918.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 7 2 10 4 22 10 22 10 10 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757342470 3 137566234 C CA 540 PASS - - - - - Ins - I 137566234 137566241 1 18 478.866 - - 6 1 1 - - ./. 0 0 0 0 13 11 14 11 0 0 ./. 8 1 12 7 25 19 25 19 12 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757353481 3 181643523 ATC A 588 PASS - - - - - Del - D 181643523 181643531 2 45 647.318 - - 3 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 8 6 11 12 23 12 23 6 11 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757353490 3 181669708 A AAC 360 PASS - - - - - Ins - I 181669708 181669710 2 7 314.628 - - 0 1 - - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 0 1 0 26 11 26 11 7 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757359297 4 3319805 C CGGAGGCCCGGCCTCCTCACTTAGCAGCCTCAGCGT 261 PASS RGS12 CCDS3367.1 r.? - - Ins intronic I 3319805 3319832 35 28 289.032 - - 0 1 1 RGS12|CCDS3367.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RGS12|CCDS3367.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 6 0 0 34 20 37 26 3 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757373644 4 52840950 CAGTGT C 298 PASS - - - - - Del - D 52840950 52840956 5 15 323.536 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 4 2 4 21 23 21 23 2 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757375575 4 59634713 G GA 600 PASS - - - - - Ins - I 59634713 59634721 1 32 533.206 - - 7 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 7 4 9 8 25 8 26 4 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757386920 4 101104582 T TA 300 PASS DDIT4L CCDS34036.1 r.? - - Ins downstream I 101104582 101104590 1 12 266.603 - - 7 1 1 DDIT4L|CCDS34036.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 DDIT4L|CCDS34036.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 19 16 19 16 0 0 ./. 2 3 2 3 14 20 14 20 2 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757399323 4 147333181 TC T 360 PASS SLC10A7 CCDS34073.1 r.? - - Del intronic D 147333181 147333183 1 16 323.536 - - 1 1 1 SLC10A7|CCDS34073.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC10A7|CCDS34073.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 3 3 5 24 23 24 23 3 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757409648 4 183155074 TAA T 420 PASS ODZ3 ENST00000512480 r.? - - Del intronic D 183155074 183155077 2 20 377.459 - - 2 1 1 ODZ3|ENST00000512480|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ODZ3|ENST00000512480|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 4 3 6 20 23 20 23 3 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757416538 5 8642116 C CA 360 PASS - - - - - Ins - I 8642116 8642124 1 16 318.924 - - 7 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 3 3 4 3 36 29 36 31 4 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757416586 5 8793620 A AA 569 PASS - - - - - Ins - I 8793619 8793621 1 35 519.699 - - 1 1 1 - - ./. 0 0 0 0 11 19 11 20 0 0 ./. 6 4 1 0 24 21 24 21 7 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757417042 5 10162500 TCCCATCTGGGGCCCC T 261 PASS - - - - - Del - D 10162500 10162516 15 30 485.61 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 4 5 4 18 25 18 25 5 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757418460 5 15173486 AAG A 300 PASS - - - - - Del - D 15173486 15173502 2 12 269.784 - - 7 1 1 - - ./. 0 0 0 0 8 19 8 19 0 0 ./. 3 2 3 2 44 30 44 30 3 2 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757419193 5 17444944 TC T 420 PASS - - - - - Del - D 17444944 17444947 1 20 377.697 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 4 7 8 29 23 29 23 7 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757422765 5 28743225 A AAC 300 PASS - - - - - Ins - I 28743225 28743239 2 10 263.763 - - 6 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 1 4 6 5 29 21 29 21 6 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757438438 5 87985463 GC G 660 PASS - - - - - Del - D 87985463 87985469 1 42 588.707 - - 5 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 6 5 10 7 33 28 33 28 10 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757438615 5 89013656 AAAG A 300 PASS - - - - - Del - D 89013656 89013666 3 12 269.784 - - 3 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 2 3 2 17 15 17 15 3 2 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757444505 5 112354972 TAGAA T 360 PASS DCP2 CCDS34210.1 r.7253_7256delAGAA c.? p.? Del 3'UTR variant D 112354972 112354980 4 12 323.74 - - 1 1 1 DCP2|CCDS34210.1|r.7253_7256delAGAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 DCP2|CCDS34210.1|r.7253_7256delAGAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 5 1 10 8 21 8 21 1 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757451215 5 137447121 C CA 300 PASS NME5 CCDS4197.1 r.? - - Ins downstream I 137447121 137447131 1 12 261.957 - - 9 1 1 NME5|CCDS4197.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 NME5|CCDS4197.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 3 6 3 28 29 28 29 6 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757459731 5 168927871 C CT 600 PASS - - - - - Ins - I 168927871 168927878 1 35 533.547 - - 6 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 4 9 8 26 20 26 20 9 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757463728 6 267157 AG A 300 PASS - - - - - Del - D 267157 267159 1 6 261.885 - - 1 1 1 - - ./. 0 0 0 0 27 24 27 24 0 0 ./. 5 0 7 0 52 43 52 43 7 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757477762 6 38577145 CA C 300 PASS BTBD9 CCDS47418.1 r.? - - Del intronic D 38577145 38577155 1 12 269.712 - - 9 1 1 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 3 2 3 19 31 19 31 2 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757488632 6 74613149 G GCGCC 336 PASS - - - - - Ins - I 74613149 74613151 4 33 610.582 - - 0 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 10 2 0 0 26 31 26 31 10 2 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757494654 6 97312851 G GA 360 PASS - - - - - Ins - I 97312851 97312858 1 16 320.042 - - 6 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 3 4 5 31 27 31 27 4 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757496254 6 104366915 C CA 360 PASS - - - - - Ins - I 104366915 104366917 1 15 320.042 - - 1 1 1 - - ./. 0 0 0 0 11 24 11 24 0 0 ./. 2 4 4 7 16 19 16 19 4 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757499046 6 114160932 G GA 480 PASS - - - - - Ins - I 114160932 114160939 1 21 426.722 - - 6 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 6 2 8 3 20 22 20 22 8 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757504862 6 135730714 T TTATCTTTC 551 PASS AHI1 CCDS47483.1 r.? - - Ins intronic I 135730714 135730729 8 98 932.789 - - 1 1 1 AHI1|CCDS47483.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AHI1|CCDS47483.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 13 6 12 5 39 23 40 24 13 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757507080 6 144305363 AT A 720 PASS PLAGL1 CCDS5202.1 r.? - - Del intronic D 144305363 144305366 1 45 647.308 - - 2 1 1 PLAGL1|CCDS5202.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLAGL1|CCDS5202.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 8 4 8 6 26 21 26 21 8 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757510398 6 155351618 AG A 720 PASS - - - - - Del - D 155351618 155351621 1 49 646.104 - - 2 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 6 6 8 32 28 32 28 6 8 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757511113 6 158243089 A AT 300 PASS SNX9 CCDS5253.1 r.? - - Ins upstream I 158243089 158243099 1 12 266.701 - - 9 1 1 SNX9|CCDS5253.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 SNX9|CCDS5253.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 12 11 12 12 0 0 ./. 3 2 3 2 29 27 31 27 3 2 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757512911 6 163212345 T TTG 509 PASS PACRG CCDS43524.1 r.? - - Ins intronic I 163212345 163212347 2 30 471.031 - - 0 1 1 PACRG|CCDS43524.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PACRG|CCDS43524.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 5 4 6 21 25 21 25 4 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757513361 6 164839053 G GA 900 PASS - - - - - Ins - I 164839053 164839059 1 72 800.104 - - 5 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 8 7 10 10 25 24 25 24 10 10 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757528011 7 44378333 CAT C 360 PASS - - - - - Del - D 44378333 44378337 2 15 324.023 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 4 3 4 17 21 17 21 3 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757532475 7 61803545 TTTTA T 263 PASS - - - - - Del - D 61803545 61803553 4 16 810.058 - - 1 1 1 - - ./. 0 0 0 0 100 36 100 36 0 0 ./. 15 0 15 0 210 136 210 136 15 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757533240 7 63890399 CT C 720 PASS - - - - - Del - D 63890399 63890401 1 45 648.047 - - 1 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 8 4 9 6 26 18 26 18 9 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757543212 7 99384673 C CTCTTAGTACTATG 319 PASS CYP3A4 CCDS5674.1 r.? - - Ins upstream I 99384673 99384675 13 42 507.948 - - 0 1 1 CYP3A4|CCDS5674.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CYP3A4|CCDS5674.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 2 8 2 10 0 0 ./. 6 5 0 0 25 11 28 17 6 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757543278 7 99641907 ATCT A 298 PASS - - - - - Del - D 99641907 99641911 3 15 324.023 - - 1 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 4 2 6 2 16 18 16 18 6 2 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757544513 7 103228222 AAAT A 598 PASS RELN CCDS47680.1 r.? - - Del intronic D 103228222 103228226 3 36 594.043 - - 1 1 1 RELN|CCDS47680.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RELN|CCDS47680.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 8 3 10 3 35 14 35 14 10 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757545354 7 106005078 T TA 295 PASS - - - - - Ins - I 106005078 106005082 1 12 266.407 - - 3 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 3 5 3 22 13 22 13 5 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757560227 8 232111 ATCCACACTCCACGTTACAGAGTCCACACTCCACGTTACAGAG A 510 PASS - - - - - Del - D 232111 232168 42 36 591.399 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 8 3 0 0 43 26 43 26 8 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757561058 8 2958592 TTC T 360 PASS CSMD1 ENST00000318252 r.? - - Del intronic D 2958592 2958596 2 7 323.621 - - 1 1 1 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 6 0 9 0 23 14 23 14 9 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757565570 8 16009703 A AT 720 PASS MSR1 CCDS5995.1 r.? - - Ins intronic I 16009703 16009710 1 33 640.018 - - 6 1 1 MSR1|CCDS5995.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MSR1|CCDS5995.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 10 4 12 22 28 22 28 4 12 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757571779 8 34521539 A AT 300 PASS - - - - - Ins - I 34521539 34521549 1 12 266.574 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 3 2 6 25 28 25 28 2 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757575417 8 52284296 AT A 540 PASS PXDNL CCDS47855.1 r.? - - Del intronic D 52284296 52284300 1 28 486.335 - - 3 1 1 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 6 3 8 4 29 16 29 16 8 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757589642 8 106151437 AG A 300 PASS - - - - - Del - D 106151437 106151439 1 6 248.512 - - 1 1 - - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 0 10 0 31 12 31 12 10 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757595108 8 126125310 GT G 360 PASS NSMCE2 CCDS6356.1 r.? - - Del intronic D 126125310 126125312 1 7 323.019 - - 1 1 1 NSMCE2|CCDS6356.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NSMCE2|CCDS6356.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 6 0 7 0 24 19 24 19 7 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757598504 8 138714815 T TA 360 PASS - - - - - Ins - I 138714815 138714822 1 12 318.203 - - 6 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 1 5 1 7 15 26 15 26 1 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757601551 9 2761438 AC A 960 PASS - - - - - Del - D 2761438 2761440 1 81 865.548 - - 1 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 8 8 9 9 33 28 33 28 9 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757604278 9 11888816 CT C 629 PASS - - - - - Del - D 11888816 11888820 1 36 592.054 - - 3 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 8 3 10 6 25 37 25 37 10 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757606660 9 19553606 AGTCAGTGCAGCATGCT A 522 PASS SLC24A2 CCDS6493.1 r.? - - Del intronic D 19553606 19553624 16 96 973.742 - - 1 1 1 SLC24A2|CCDS6493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC24A2|CCDS6493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 4 10 4 0 0 ./. 11 7 10 7 35 21 36 21 11 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757618952 9 81898914 C CTG 300 PASS - - - - - Ins - I 81898914 81898918 2 12 264.463 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 3 10 14 10 14 2 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757625120 9 104637159 T TA 600 PASS - - - - - Ins - I 104637159 104637165 1 35 534.947 - - 5 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 6 6 9 28 30 29 30 6 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757628269 9 115077901 TA T 420 PASS ROD1 CCDS6784.1 r.? - - Del intronic D 115077901 115077908 1 20 378.677 - - 6 1 1 ROD1|CCDS6784.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROD1|CCDS6784.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 3 7 4 21 9 21 9 7 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757631330 9 125425248 GTA G 300 PASS OR1L1 CCDS35127.1 r.? - - Del downstream D 125425248 125425252 2 12 269.28 - - 1 1 - OR1L1|CCDS35127.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 OR1L1|CCDS35127.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 6 6 6 6 0 0 ./. 2 3 2 5 20 24 20 24 2 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757633915 9 132971155 CTG C 300 PASS NCS1 CCDS6932.1 r.? - - Del intronic D 132971155 132971174 2 12 270.484 - - 9 1 1 NCS1|CCDS6932.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCS1|CCDS6932.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 3 2 3 2 39 22 39 22 3 2 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757635414 9 137577350 CCAT C 269 PASS COL5A1 CCDS6982.1 r.? - - Del intronic D 137577350 137577356 3 12 269.882 - - 1 1 - COL5A1|CCDS6982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL5A1|CCDS6982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 3 2 6 4 65 120 65 122 7 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757636936 X 3932870 TG T 300 PASS - - - - - Del - D 3932870 3932872 1 6 267.589 - - 1 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 5 0 7 0 28 11 28 11 7 0 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757638804 X 12537654 G GA 600 PASS FRMPD4 CCDS35201.1 r.? - - Ins intronic I 12537654 12537661 1 35 535.179 - - 6 1 1 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 6 8 9 27 25 27 25 8 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757641802 X 26341027 T TA 480 PASS - - - - - Ins - I 26341027 26341031 1 25 427.541 - - 3 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 4 5 4 21 12 21 12 5 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757643946 X 37993727 TC T 960 PASS ENSG00000250349 ENST00000465127 r.? - - Del intronic D 37993727 37993730 1 80 864.714 - - 2 1 1 ENSG00000250349|ENST00000465127|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000250349|ENST00000465127|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 7 9 9 12 17 18 17 18 9 12 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757646637 X 47710938 A AT 420 PASS ZNF81 CCDS43933.1 r.? - - Ins intronic I 47710938 47710946 1 20 374.625 - - 7 1 1 ZNF81|CCDS43933.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF81|CCDS43933.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 3 6 4 25 28 26 28 6 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757647534 X 51105707 T TA 1109 PASS - - - - - Ins - I 51105707 51105717 1 108 1015.03 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 11 8 13 15 36 44 36 45 13 15 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757647617 X 51477619 TA T 300 PASS - - - - - Del - D 51477619 51477629 1 12 269.395 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 3 3 4 37 45 37 45 3 4 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757648806 X 56686088 GT G 1920 PASS - - - - - Del - D 56686088 56686094 1 285 1727.02 - - 5 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 18 14 27 17 53 34 53 34 27 17 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757649447 X 64230994 C CA 420 PASS ZC4H2 ENST00000337990 r.? - - Ins intronic I 64230994 64231004 1 18 374.023 - - 9 1 1 ZC4H2|ENST00000337990|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZC4H2|ENST00000337990|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 18 0 0 ./. 5 2 5 7 32 16 33 16 5 7 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757652442 X 79200139 CATCATTGCACACATCCTGACAGTGA C 261 PASS - - - - - Del - D 79200139 79200165 25 28 487.079 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 6 1 5 17 26 19 27 3 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757654908 X 90927920 TA T 396 PASS - - - - - Del - D 90927920 90927930 1 20 378.839 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 3 9 5 27 18 27 18 9 5 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757662894 X 130848627 GTAAC G 521 PASS - - - - - Del - D 130848627 130848633 4 48 649.439 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 7 7 9 26 33 26 33 7 9 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757664218 X 137295239 A AT 389 PASS - - - - - Ins - I 137295239 137295249 1 20 364.992 - - 9 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 4 6 6 38 23 39 23 6 6 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757666037 X 145338100 TTATGGATTATCTCTACTTATTTCCCTTTCTCATCCCTATTG T 261 PASS - - - - - Del - D 145338100 145338143 41 28 484.671 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 3 1 1 26 16 28 18 6 3 1 1 1 1 1 1 1 1 2772606 PD7310a PD7310b 2757666856 X 149125805 ATAGCTACTTCTGCACAATATTTTACTTCTAGTAATATTTTAGATCAGATAATTTATTTCTTTTTAG A 348 PASS - - - - - Del - D 149125805 149125872 66 48 647.031 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 7 5 0 0 10 18 17 23 7 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2762981123 1 1481165 G GA 269 PASS SSU72 CCDS32.1 r.? - - Ins intronic I 1481165 1481175 1 10 263.471 - - 9 1 1 SSU72|CCDS32.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SSU72|ENST00000378726|r.702_703insu|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 14 11 15 12 0 0 ./. 1 4 1 4 33 28 33 28 1 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2762982427 1 6064637 A AC 269 PASS KCNAB2 CCDS55.1 r.? - - Ins intronic I 6064637 6064645 1 12 261.665 - - 7 1 1 KCNAB2|CCDS55.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KCNAB2|CCDS55.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 2 4 3 18 24 18 24 4 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2762990520 1 26906939 T TA 300 PASS - - - - - Ins - I 26906939 26906940 1 12 260.461 - - 0 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 2 4 3 22 24 22 24 4 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763005727 1 75617175 AG A 300 PASS LHX8 CCDS30756.1 r.? - - Del intronic D 75617175 75617177 1 12 268.288 - - 1 1 1 LHX8|CCDS30756.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHX8|CCDS30756.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 2 3 2 19 20 19 20 3 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763008376 1 84259114 AC A 480 PASS - - - - - Del - D 84259114 84259116 1 25 429.261 - - 1 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 4 5 4 16 22 16 22 5 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763017395 1 112678610 TG T 840 PASS - - - - - Del - D 112678610 112678613 1 63 751.206 - - 2 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 8 6 10 9 22 24 22 24 10 9 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763020475 1 142540283 G GGAATT 378 PASS ENSG00000238159 ENST00000426281 r.? - - Ins upstream I 142540283 142540288 5 15 707.858 - - 0 1 1 ENSG00000238159|ENST00000426281|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ENSG00000238159|ENST00000417230|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 44 84 45 85 0 0 ./. 14 0 18 0 158 116 159 136 18 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763020709 1 142600807 GA G 275 PASS - - - - - Del - D 142600807 142600815 1 27 536.576 - - 7 1 1 - - ./. 0 0 0 0 28 33 28 34 0 0 ./. 8 2 10 1 44 58 44 58 10 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763024131 1 148555968 G GCTGCGCCTGCGC 493 PASS - - - - - Ins - I 148555968 148555983 12 18 789.358 - - 1 1 1 - - ./. 0 0 0 0 20 31 21 31 0 0 ./. 17 0 33 0 193 136 194 136 34 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763024542 1 149041984 CTT C 420 PASS - - - - - Del - D 149041984 149041989 2 20 375.001 - - 4 1 1 - - ./. 0 0 0 0 18 23 18 23 0 0 ./. 4 3 4 6 102 88 102 88 4 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763026128 1 151544714 T TA 300 PASS TUFT1 CCDS1000.1 r.? - - Ins intronic I 151544714 151544721 1 10 265.278 - - 6 1 1 TUFT1|CCDS1000.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TUFT1|CCDS1000.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 1 7 2 52 47 54 47 7 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763026491 1 152368016 A AC 300 PASS - - - - - Ins - I 152368016 152368017 1 10 264.675 - - 0 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 1 4 1 5 41 63 43 63 1 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763026507 1 152417873 CA C 1020 PASS - - - - - Del - D 152417873 152417875 1 88 912.179 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 10 7 14 10 47 35 47 35 14 10 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763026601 1 152772943 CCAAA C 600 PASS LCE1D CCDS1025.1 r.? - - Del downstream D 152772943 152772950 4 35 536.576 - - 1 1 1 LCE1D|CCDS1025.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LCE1D|CCDS1025.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 18 16 18 0 0 ./. 6 4 6 5 53 53 53 53 6 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763027392 1 154376765 TC T 360 PASS IL6R CCDS1067.1 r.? - - Del upstream D 154376765 154376767 1 7 312.312 - - 1 1 1 IL6R|CCDS1067.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 IL6R|CCDS1067.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 9 11 9 0 0 ./. 6 0 13 0 41 39 41 39 13 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763029607 1 158711187 T TA 300 PASS - - - - - Ins - I 158711187 158711194 1 12 265.278 - - 6 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 2 3 2 59 40 59 40 3 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763029991 1 159733183 C CA 720 PASS - - - - - Ins - I 159733183 159733189 1 33 635.462 - - 5 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 10 2 10 3 46 33 47 33 10 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763032197 1 164565350 TC T 360 PASS PBX1 CCDS1246.1 r.? - - Del intronic D 164565350 164565352 1 7 305.69 - - 1 1 1 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 6 0 11 0 43 54 43 54 11 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763032270 1 164716571 TAC T 360 PASS PBX1 CCDS1246.1 r.? - - Del intronic D 164716571 164716585 2 16 321.945 - - 6 1 - PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 3 3 5 48 54 48 54 3 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763033363 1 167198219 AC A 300 PASS POU2F1 CCDS1259.1 r.? - - Del intronic D 167198219 167198221 1 10 268.288 - - 1 1 1 POU2F1|CCDS1259.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 POU2F1|CCDS1259.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 1 4 1 4 51 34 51 34 1 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763035321 1 171481709 GGT G 360 PASS BAT2L2 ENST00000392078 r.? - - Del intronic D 171481709 171481728 2 16 321.343 - - 9 1 - BAT2L2|ENST00000392078|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAT2L2|ENST00000392078|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 3 3 5 49 53 49 53 3 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763035463 1 171736387 G GT 989 PASS - - - - - Ins - I 171736387 171736394 1 90 899.535 - - 6 1 1 - - ./. 0 0 0 0 10 10 11 10 0 0 ./. 9 8 10 11 56 59 56 60 10 11 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763040876 1 183715170 TG T 480 PASS RGL1 CCDS1359.1 r.? - - Del intronic D 183715170 183715172 1 9 409.995 - - 1 1 1 RGL1|CCDS1359.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGL1|CCDS1359.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 21 8 21 0 0 ./. 8 0 12 0 36 56 36 56 12 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763041028 1 184061421 G GA 960 PASS - - - - - Ins - I 184061421 184061427 1 80 846.48 - - 5 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 7 9 8 13 46 58 46 59 8 13 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763043566 1 189443414 GCTGGA G 271 PASS - - - - - Del - D 189443414 189443423 5 10 482.918 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 9 0 4 0 43 50 49 50 10 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763047141 1 198021843 A AT 300 PASS - - - - - Ins - I 198021843 198021851 1 6 265.278 - - 7 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 0 5 0 5 29 61 29 61 0 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763047466 1 198675829 GA G 840 PASS PTPRC CCDS1397.1 r.? - - Del intronic D 198675829 198675835 1 63 751.206 - - 5 1 1 PTPRC|CCDS1397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRC|CCDS1397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 8 6 10 11 46 53 46 53 10 11 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763049819 1 203213113 CAG C 360 PASS - - - - - Del - D 203213113 203213131 2 12 321.343 - - 8 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 1 6 1 58 41 58 41 6 1 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763050273 1 203904347 GA G 869 PASS - - - - - Del - D 203904347 203904355 1 70 804.864 - - 7 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 9 12 12 50 48 50 48 12 12 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763052006 1 208186001 A AG 360 PASS - - - - - Ins - I 208186001 208186003 1 7 318.333 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 0 7 0 49 64 49 64 7 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763052065 1 208358093 TAC T 360 PASS PLXNA2 CCDS31013.1 r.? - - Del intronic D 208358093 208358112 2 12 321.945 - - 9 1 1 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 1 6 1 53 41 53 41 6 1 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763054965 1 214315492 AAG A 300 PASS - - - - - Del - D 214315492 214315496 2 6 250.226 - - 1 1 1 - - ./. 0 0 0 0 16 24 16 24 0 0 ./. 5 0 9 0 42 37 42 37 9 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763055898 1 216414879 T TG 360 PASS USH2A CCDS31025.1 r.? - - Ins intronic I 216414879 216414881 1 12 299.067 - - 1 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 5 6 5 57 49 59 49 6 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763056325 1 217312574 GT G 360 PASS ESRRG CCDS1517.1 r.? - - Del upstream D 217312574 217312576 1 7 311.71 - - 1 1 1 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 6 9 6 9 0 0 ./. 6 0 7 0 33 44 33 44 7 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763059425 1 224323326 A AAG 420 PASS FBXO28 CCDS1539.1 r.? - - Ins intronic I 224323326 224323328 2 8 352.725 - - 0 1 - FBXO28|CCDS1539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBXO28|CCDS1539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 7 0 2 0 53 45 54 46 8 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763063701 1 233363179 AAT A 360 PASS PCNXL2 CCDS44335.1 r.? - - Del intronic D 233363179 233363194 2 15 312.312 - - 7 1 - PCNXL2|CCDS44335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCNXL2|CCDS44335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 2 4 4 45 48 45 48 4 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763063979 1 234010268 C CT 480 PASS - - - - - Ins - I 234010268 234010277 1 21 424.444 - - 8 1 1 - - ./. 0 0 0 0 30 15 30 15 0 0 ./. 6 2 14 4 66 39 69 40 14 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763063991 1 234038660 TTC T 300 PASS SLC35F3 CCDS1600.1 r.? - - Del upstream D 234038660 234038664 2 12 266.482 - - 1 1 - SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 3 2 4 56 45 56 45 3 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763064274 1 234640841 CAG C 269 PASS - - - - - Del - D 234640841 234640858 2 10 258.053 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 1 4 1 4 34 54 34 54 1 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763065006 1 235922037 T TA 600 PASS LYST CCDS31062.1 r.? - - Ins intronic I 235922037 235922038 1 36 530.555 - - 0 1 1 LYST|CCDS31062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LYST|CCDS31062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 5 5 6 6 44 63 45 63 6 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763067767 1 240927209 C CT 960 PASS - - - - - Ins - I 240927209 240927218 1 65 845.878 - - 8 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 12 4 13 6 50 44 50 45 13 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763072592 10 1081855 T TG 660 PASS IDI1 CCDS7056.1 r.? - - Ins downstream I 1081855 1081859 1 30 584.901 - - 3 1 1 IDI1|CCDS7056.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 IDI1|CCDS7056.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 9 5 12 33 53 34 54 5 12 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763073306 10 2799254 G GA 480 PASS ENSG00000214531 ENST00000398522 r.? - - Ins intronic I 2799254 2799262 1 24 425.821 - - 7 1 1 ENSG00000214531|ENST00000398522|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000214531|ENST00000398522|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 17 22 17 0 0 ./. 3 5 6 8 39 41 41 42 6 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763073768 10 3780535 T TA 1680 PASS - - - - - Ins - I 3780535 3780543 1 189 1487.36 - - 7 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 8 20 12 22 19 42 19 42 12 22 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763075917 10 8111432 TCA T 1709 PASS GATA3 CCDS31143.1 r.1493-3_1493-2delca c.925-3_925-2delca p.? Del ess splice D 8111432 8111435 2 240 1558.05 - - 1 1 1 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 ./. 0 0 0 0 14 8 14 8 0 0 ./. 14 15 20 15 36 28 36 28 20 15 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763077212 10 11277125 CA C 420 PASS CELF2 CCDS44354.1 r.? - - Del intronic D 11277125 11277134 1 18 376.808 - - 8 1 1 CELF2|CCDS44354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CELF2|CCDS44354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 9 21 9 0 0 ./. 5 2 6 2 42 34 42 34 6 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763083717 10 26144474 T TA 1260 PASS - - - - - Ins - I 26144474 26144483 1 130 1115.37 - - 8 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 9 12 16 18 26 37 26 38 16 18 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763087747 10 34340148 C CTTGGTTGGTTTGTTGGTTGGTTGATTGCTTGG 269 PASS - - - - - Ins - I 34340148 34340159 32 12 172.819 - - 0 1 - - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 3 0 0 43 32 43 32 2 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763091982 10 43396729 AG A 300 PASS - - - - - Del - D 43396729 43396731 1 6 263.128 - - 1 1 1 - - ./. 0 0 0 0 18 6 18 6 0 0 ./. 5 0 7 0 34 26 34 26 8 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763095573 10 55833944 A AT 1906 PASS PCDH15 CCDS44404.1 r.? - - Ins intronic I 55833944 55833953 1 300 1739.05 - - 8 1 1 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 14 19 17 26 37 45 37 45 17 26 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763096523 10 58465528 C CT 300 PASS - - - - - Ins - I 58465528 58465538 1 10 266.138 - - 9 1 1 - - ./. 0 0 0 0 24 10 24 10 0 0 ./. 1 4 1 4 52 47 53 47 1 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763097351 10 60199984 ACT A 269 PASS - - - - - Del - D 60199984 60200001 2 10 266.138 - - 8 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 1 4 1 4 22 40 22 40 1 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763098483 10 63204424 A AG 300 PASS TMEM26 CCDS41530.1 r.? - - Ins intronic I 63204424 63204425 1 6 258.311 - - 0 1 1 TMEM26|CCDS41530.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM26|CCDS41530.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 0 5 0 45 37 46 37 5 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763103276 10 74511068 G GT 300 PASS CCDC109A CCDS7317.1 r.? - - Ins intronic I 74511068 74511078 1 12 266.138 - - 9 1 1 CCDC109A|CCDS7317.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC109A|CCDS7317.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 2 3 2 3 24 37 24 37 2 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763104526 10 77500672 CAT C 420 PASS C10orf11 ENST00000354343 r.? - - Del intronic D 77500672 77500689 2 18 375.001 - - 8 1 1 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 2 6 2 35 45 35 45 6 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763107949 10 87807504 GA G 960 PASS GRID1 CCDS31236.1 r.? - - Del intronic D 87807504 87807512 1 80 860.672 - - 7 1 1 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 9 7 13 11 49 34 49 34 13 11 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763110016 10 93557252 TG T 269 PASS TNKS2 CCDS7417.1 r.? - - Del upstream D 93557252 93557262 1 12 263.73 - - 9 1 1 TNKS2|CCDS7417.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TNKS2|CCDS7417.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 2 4 34 27 34 27 2 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763111361 10 96255490 TG T 420 PASS TBC1D12 CCDS41553.1 r.? - - Del intronic D 96255490 96255492 1 14 375.603 - - 1 1 1 TBC1D12|CCDS41553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D12|CCDS41553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 1 6 1 6 25 29 25 29 1 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763112239 10 98528354 G GA 420 PASS - - - - - Ins - I 98528354 98528362 1 20 372.593 - - 7 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 4 3 6 3 46 47 46 47 6 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763112470 10 99015333 G GA 300 PASS ARHGAP19 CCDS7454.2 r.? - - Ins intronic I 99015333 99015343 1 12 266.138 - - 9 1 1 ARHGAP19|CCDS7454.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP19|CCDS7454.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 2 3 2 3 38 39 38 39 2 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763112895 10 99985232 C CA 300 PASS C10orf28 CCDS31267.1 r.? - - Ins intronic I 99985232 99985242 1 10 266.138 - - 9 1 1 C10orf28|CCDS31267.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C10orf28|CCDS31267.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 13 11 0 0 ./. 1 4 1 4 36 42 36 42 1 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763115787 10 106500464 TTTTG T 1498 PASS SORCS3 CCDS7558.1 r.? - - Del intronic D 106500464 106500480 4 195 1398.97 - - 3 1 1 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 14 12 22 20 39 34 39 34 23 20 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763115858 10 106716368 TA T 360 PASS SORCS3 CCDS7558.1 r.? - - Del intronic D 106716368 106716372 1 15 322.376 - - 3 1 1 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 4 4 5 41 28 41 28 4 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763118020 10 112545530 A AT 360 PASS RBM20 CCDS44477.1 r.? - - Ins intronic I 112545530 112545533 1 12 318.763 - - 2 1 1 RBM20|CCDS44477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBM20|CCDS44477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 19 13 0 0 ./. 5 1 8 2 28 42 29 42 8 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763119108 10 115680736 G GT 300 PASS NHLRC2 CCDS7585.1 r.? - - Ins downstream I 115680736 115680746 1 12 264.332 - - 9 1 1 NHLRC2|CCDS7585.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 NHLRC2|CCDS7585.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 21 21 21 21 0 0 ./. 3 2 3 2 44 32 44 33 3 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763133760 11 19443776 T TG 869 PASS - - - - - Ins - I 19443776 19443783 1 70 798.963 - - 6 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 6 9 6 11 25 30 25 30 6 11 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763138928 11 33732440 G GA 420 PASS CD59 CCDS7886.1 r.? - - Ins intronic I 33732440 33732448 1 20 373.973 - - 7 1 1 CD59|CCDS7886.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CD59|CCDS7886.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 24 11 24 0 0 ./. 3 4 4 6 19 21 20 22 4 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763139929 11 36565499 T TA 720 PASS - - - - - Ins - I 36565499 36565506 1 45 641.097 - - 6 1 1 - - ./. 0 0 0 0 14 13 15 14 0 0 ./. 8 4 10 10 25 19 25 19 10 10 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763146941 11 60835851 ATC A 360 PASS - - - - - Del - D 60835851 60835869 2 15 324.161 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 2 4 2 30 25 30 25 4 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763147258 11 61733588 T TA 360 PASS BEST1 CCDS44623.1 r.? - - Ins downstream I 61733588 61733598 1 15 320.549 - - 9 1 1 BEST1|CCDS44623.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 FTH1|CCDS41655.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 2 6 6 39 46 39 46 6 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763150765 11 70434143 TG T 329 PASS SHANK2 ENST00000338508 r.? - - Del intronic D 70434143 70434148 1 16 323.559 - - 4 1 1 SHANK2|ENST00000338508|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHANK2|ENST00000338508|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 3 4 4 42 28 42 28 4 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763151136 11 71572150 C CA 420 PASS - - - - - Ins - I 71572150 71572160 1 20 373.973 - - 9 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 3 4 3 40 36 40 36 4 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763170867 12 1531128 GT G 1320 PASS ERC1 CCDS8508.1 r.? - - Del intronic D 1531128 1531131 1 135 1181.31 - - 2 1 1 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 14 8 16 14 39 33 39 33 16 14 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763173254 12 7326650 C CCCTT 269 PASS - - - - - Ins - I 7326650 7326666 4 6 251.511 - - 3 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 0 5 0 5 12 19 12 20 0 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763178293 12 17938234 TA T 1148 PASS - - - - - Del - D 17938234 17938242 1 117 1078.29 - - 7 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 8 12 11 18 32 37 32 37 11 18 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763180735 12 23535543 A AT 300 PASS - - - - - Ins - I 23535543 23535553 1 10 264.757 - - 9 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 1 4 1 33 43 34 43 4 1 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763180886 12 23958366 G GA 300 PASS SOX5 CCDS8699.1 r.? - - Ins intronic I 23958366 23958376 1 12 266.563 - - 9 1 1 SOX5|CCDS8699.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SOX5|CCDS8699.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 11 21 11 0 0 ./. 2 3 2 3 51 33 51 34 2 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763182511 12 27651633 G GA 960 PASS C12orf70 CCDS44852.1 r.? - - Ins intronic I 27651633 27651643 1 81 850.593 - - 9 1 1 C12orf70|CCDS44852.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C12orf70|CCDS44852.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 15 17 0 0 ./. 8 8 10 10 49 46 49 46 10 10 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763186124 12 38758397 G GT 420 PASS - - - - - Ins - I 38758397 38758407 1 8 366.565 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 7 0 8 1 33 25 33 25 8 1 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763188599 12 45608929 C CT 1380 PASS ANO6 CCDS31782.1 r.? - - Ins upstream I 45608929 45608936 1 156 1221.97 - - 6 1 1 ANO6|CCDS31782.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 PLEKHA9|CCDS8747.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 12 11 15 15 35 46 35 47 15 15 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763190206 12 49824021 TTACAGCACGCCACCGTGCCTGGCTAATTTTTGTATTATTTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTGAAATGATCCGCCGACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGACCCACCATGCCTGGCATTTCATATTTCTTTATAAAGCTGATGAAAATGATATTTATTGGTAAACTGATTATATTATGGAATGAGAATTCCTGGTGACTTTCTTATAATTAAAACCCTTTAAAGATGAGAAGAATGTTTTTATTTGCAACCTCTCATTTTCTTGTTTTCCATCATTATCTGCAGGTGTAGTAGGTTAGCATTTATCTTCTTGACACATTTCATGAACCTGTTGATTGGGTTTCTGAGTTAGAATTATATTATTTAGATTCAAATGAAGGCTTTCAGCTTTGATTTAATTTACTGGGTAAGGGTCTTATTTATTTTTACTTTTTTGAAATAGAATCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATATGGGCTCATTTTAGCCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTCCTGAGTAGCTGGGAC T 336 PASS SPATS2 CCDS31794.1 r.? - - Del intronic D 49824021 49824626 599 48 646.975 - - 1 1 1 SPATS2|CCDS31794.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SPATS2|CCDS31794.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 7 5 0 0 18 32 24 36 7 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763194232 12 58627297 C CT 300 PASS - - - - - Ins - I 58627297 58627307 1 12 265.359 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 3 2 43 37 44 37 3 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763202152 12 80153054 C CA 660 PASS - - - - - Ins - I 80153054 80153062 1 30 579.213 - - 7 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 9 7 13 32 26 33 26 7 13 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763204957 12 88413539 G GA 300 PASS C12orf50 CCDS9031.1 r.? - - Ins intronic I 88413539 88413548 1 12 266.563 - - 8 1 1 C12orf50|CCDS9031.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C12orf50|CCDS9031.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 13 24 13 0 0 ./. 3 2 4 4 48 35 48 35 4 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763211696 12 104828010 A AT 894 PASS - - - - - Ins - I 104828010 104828017 1 96 955.412 - - 6 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 11 7 17 12 34 40 34 40 17 12 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763211793 12 105113034 TG T 720 PASS CHST11 CCDS9099.1 r.? - - Del intronic D 105113034 105113037 1 45 646.373 - - 2 1 1 CHST11|CCDS9099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHST11|CCDS9099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 8 4 10 7 45 32 45 32 10 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763213912 12 110553788 CCTCTT C 298 PASS - - - - - Del - D 110553788 110553800 5 7 323.488 - - 2 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 0 6 0 7 39 40 39 40 0 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763222550 12 128613105 CA C 360 PASS - - - - - Del - D 128613105 128613114 1 15 323.488 - - 8 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 2 4 3 5 36 33 36 33 3 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763223762 12 131395111 T TA 929 PASS - - - - - Ins - I 131395111 131395120 1 72 853.001 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 11 7 14 30 33 31 33 7 14 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763244651 13 81152260 ACAGCAGCAG A 290 PASS - - - - - Del - D 81152260 81152281 9 35 537.946 - - 6 1 - - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 6 5 10 12 22 12 22 5 10 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763245670 13 85261090 T TA 660 PASS - - - - - Ins - I 85261090 85261092 1 42 589.754 - - 1 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 6 5 7 8 16 21 16 21 7 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763253838 13 112633540 A AC 1200 PASS - - - - - Ins - I 112633540 112633541 1 112 1069.87 - - 0 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 7 13 11 17 19 24 19 24 11 17 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763255706 14 22134930 T TC 300 PASS OR4E2 CCDS41916.1 r.? - - Ins downstream I 22134930 22134933 1 12 261.879 - - 2 1 1 OR4E2|CCDS41916.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 OR4E2|CCDS41916.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 9 15 9 0 0 ./. 2 3 3 4 29 26 29 26 3 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763257752 14 27953766 T TA 360 PASS - - - - - Ins - I 27953766 27953775 1 15 321.479 - - 8 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 4 2 4 3 22 26 22 26 4 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763260910 14 36651206 TA T 480 PASS - - - - - Del - D 36651206 36651216 1 21 432.854 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 2 6 3 34 23 34 23 6 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763267221 14 54001373 AAC A 300 PASS - - - - - Del - D 54001373 54001392 2 12 270.91 - - 9 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 3 2 3 3 23 22 23 22 3 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763269213 14 60416003 G GT 290 PASS - - - - - Ins - I 60416003 60416006 1 11 535.799 - - 2 1 1 - - ./. 0 0 0 0 10 22 10 22 0 0 ./. 10 0 11 0 46 26 47 26 11 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763270893 14 65096905 G GA 480 PASS - - - - - Ins - I 65096905 65096914 1 25 428.639 - - 8 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 4 4 8 7 29 27 30 27 8 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763271882 14 67739896 CA C 433 PASS MPP5 CCDS9779.1 r.? - - Del intronic D 67739896 67739898 1 21 431.65 - - 1 1 1 MPP5|CCDS9779.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MPP5|CCDS9779.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 2 8 2 22 20 22 20 8 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763273642 14 73221488 A AT 480 PASS DPF3 CCDS45133.1 r.? - - Ins intronic I 73221488 73221492 1 24 428.037 - - 3 1 1 DPF3|CCDS45133.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPF3|CCDS45133.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 3 6 5 30 23 31 23 6 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763283520 14 102403145 T TA 300 PASS - - - - - Ins - I 102403145 102403154 1 12 267.9 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 12 0 0 ./. 2 3 4 5 24 29 24 29 4 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763286202 15 20570293 T TA 600 PASS - - - - - Ins - I 20570293 20570301 1 36 534.338 - - 7 1 1 - - ./. 0 0 0 0 39 51 39 52 0 0 ./. 5 5 9 7 67 57 67 57 9 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763289199 15 29612680 C CA 720 PASS FAM189A1 CCDS45198.1 r.? - - Ins intronic I 29612680 29612687 1 33 643.373 - - 6 1 1 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 10 2 12 2 34 28 34 28 12 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763289736 15 31263538 A AGTAC 480 PASS MTMR10 CCDS45204.1 r.? - - Ins intronic I 31263538 31263543 4 24 413.864 - - 1 1 1 MTMR10|CCDS45204.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTMR10|CCDS45204.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 5 3 7 39 33 39 34 3 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763290874 15 34307206 CA C 960 PASS CHRM5 CCDS10031.1 r.? - - Del intronic D 34307206 34307208 1 80 867.464 - - 1 1 1 CHRM5|CCDS10031.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHRM5|CCDS10031.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 7 9 8 12 18 25 18 25 8 12 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763299615 15 59804670 CAAAAAAAAAAAAAAA C 348 PASS FAM81A CCDS45269.1 r.? - - Del intronic D 59804670 59804697 15 45 642.771 - - 1 1 - FAM81A|CCDS45269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM81A|CCDS45269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 8 4 9 14 20 14 20 4 9 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763302736 15 67996806 C CT 660 PASS MAP2K5 CCDS10224.1 r.? - - Ins intronic I 67996806 67996816 1 42 587.351 - - 9 1 1 MAP2K5|CCDS10224.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAP2K5|CCDS10224.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 5 9 9 29 34 29 34 9 9 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763305152 15 75266879 G GT 737 PASS - - - - - Ins - I 75266879 75266889 1 44 681.936 - - 9 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 10 3 16 5 37 23 37 23 16 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763307366 15 81356371 T TA 360 PASS - - - - - Ins - I 81356371 81356381 1 16 321.687 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 3 3 3 32 36 32 37 3 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763312913 15 98035550 GGA G 300 PASS - - - - - Del - D 98035550 98035569 2 10 271.083 - - 9 1 - - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 1 4 2 16 32 16 32 4 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763313457 15 99393974 TG T 300 PASS IGF1R CCDS10378.1 r.? - - Del intronic D 99393974 99393984 1 12 271.083 - - 9 1 1 IGF1R|CCDS10378.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGF1R|CCDS10378.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 5 3 28 19 28 19 5 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763318625 16 7864622 A AT 480 PASS - - - - - Ins - I 7864622 7864630 1 16 428.086 - - 7 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 1 7 4 11 44 45 45 45 4 11 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763320715 16 11433809 TC T 420 PASS C16orf75 ENST00000381820 r.? - - Del intronic D 11433809 11433812 1 14 378.79 - - 2 1 1 C16orf75|ENST00000381820|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C16orf75|ENST00000381820|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 14 0 0 ./. 6 1 6 1 60 41 60 44 6 1 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763321942 16 13522150 AAG A 300 PASS - - - - - Del - D 13522150 13522170 2 12 270.564 - - 9 1 - - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 3 2 3 2 49 43 49 43 3 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763324485 16 18939080 AC A 329 PASS SMG1 CCDS45430.1 r.? - - Del upstream D 18939080 18939082 1 15 320.462 - - 1 1 1 SMG1|CCDS45430.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SMG1|CCDS45430.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 17 3 17 3 0 0 ./. 4 2 6 3 47 29 47 29 6 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763325318 16 20423516 TA T 509 PASS ACSM5 CCDS10585.1 r.? - - Del intronic D 20423516 20423526 1 28 484.005 - - 9 1 1 ACSM5|CCDS10585.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACSM5|CCDS10585.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 6 3 12 27 43 27 43 3 12 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763326009 16 21884762 C CAAAA 365 PASS - - - - - Ins - I 21884762 21884765 4 14 672.159 - - 2 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 13 0 13 0 45 32 45 32 13 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763326991 16 23875233 TTC T 269 PASS PRKCB CCDS10619.1 r.? - - Del intronic D 23875233 23875251 2 10 269.36 - - 8 1 1 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 1 4 1 49 46 49 46 4 1 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763328288 16 26118571 T TAC 780 PASS HS3ST4 ENST00000331351 r.? - - Ins intronic I 26118571 26118587 2 56 684.201 - - 7 1 - HS3ST4|ENST00000331351|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HS3ST4|ENST00000331351|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 21 21 21 0 0 ./. 6 7 11 12 46 40 48 40 11 12 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763330649 16 30909171 GTC G 300 PASS CTF1 CCDS10694.1 r.? - - Del intronic D 30909171 30909191 2 12 270.564 - - 9 1 - CTF1|CCDS10694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTF1|CCDS10694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 2 3 42 46 42 46 2 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763331437 16 32304538 CT C 250 PASS - - - - - Del - D 32304538 32304547 1 12 595.241 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 11 0 15 0 58 0 58 0 15 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763331470 16 32334750 AAAG A 295 PASS - - - - - Del - D 32334750 32334754 3 10 487.015 - - 1 1 1 - - ./. 0 0 0 0 34 40 34 40 0 0 ./. 9 0 15 0 160 137 161 137 15 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763346664 16 89064472 T TG 1169 PASS - - - - - Ins - I 89064472 89064480 1 121 1064.8 - - 7 1 1 - - ./. 0 0 0 0 16 4 16 5 0 0 ./. 10 10 11 13 17 28 17 28 11 13 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763356826 17 21241973 GCTTGTTC GATGTTT 406 PASS - - - - - Complex - DI 21241974 21241980 7 28 0 - - 0 1 1 - - ./. 0 0 0 0 14 32 14 32 0 0 ./. 1 13 0 0 71 109 71 109 1 13 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763360093 17 30088817 TAA T 420 PASS - - - - - Del - D 30088817 30088820 2 18 378.747 - - 2 1 1 - - ./. 0 0 0 0 27 10 27 10 0 0 ./. 5 2 7 3 31 36 31 36 7 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763360904 17 32115234 G GA 300 PASS ACCN1 CCDS42296.1 r.? - - Ins intronic I 32115234 32115244 1 12 256.686 - - 9 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 2 3 1 43 35 43 35 3 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763371024 17 55272430 TTC T 269 PASS - - - - - Del - D 55272430 55272434 2 6 266.319 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 0 6 0 32 27 32 27 7 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763373297 17 60711054 A AT 300 PASS MRC2 CCDS11634.1 r.? - - Ins intronic I 60711054 60711055 1 10 262.707 - - 0 1 1 MRC2|CCDS11634.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MRC2|CCDS11634.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 10 11 0 0 ./. 4 1 5 1 25 17 27 17 5 1 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763388686 18 15385282 T TA 255 PASS - - - - - Ins - I 15385282 15385288 1 15 321.422 - - 5 1 1 - - ./. 0 0 0 0 28 19 29 19 0 0 ./. 2 4 4 8 64 77 64 78 4 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763390098 18 21906070 G GA 300 PASS OSBPL1A CCDS11884.1 r.? - - Ins intronic I 21906070 21906080 1 12 267.851 - - 9 1 1 OSBPL1A|CCDS11884.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OSBPL1A|CCDS11884.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 3 3 3 51 29 51 29 3 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763390454 18 22888625 CA C 269 PASS ZNF521 CCDS32806.1 r.? - - Del intronic D 22888625 22888627 1 6 267.851 - - 1 1 1 ZNF521|CCDS32806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF521|CCDS32806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 0 5 0 3 13 30 13 30 0 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763391201 18 25197946 T TG 300 PASS - - - - - Ins - I 25197946 25197947 1 12 267.851 - - 0 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 3 2 4 2 30 26 30 26 4 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763392783 18 29853698 AAG A 300 PASS FAM59A CCDS11905.1 r.? - - Del intronic D 29853698 29853716 2 10 270.862 - - 8 1 - FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 1 4 25 32 25 32 1 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763395056 18 37570803 ATAG A 389 PASS - - - - - Del - D 37570803 37570810 3 8 379.206 - - 2 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 0 7 1 8 18 30 18 30 1 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763398949 18 49373675 A AT 1080 PASS - - - - - Ins - I 49373675 49373682 1 100 964.265 - - 6 1 1 - - ./. 0 0 0 0 13 17 14 17 0 0 ./. 9 9 13 11 32 41 33 42 13 11 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763400796 18 54417207 C CT 360 PASS WDR7 CCDS11962.1 r.? - - Ins intronic I 54417207 54417214 1 7 321.422 - - 6 1 1 WDR7|CCDS11962.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR7|CCDS11962.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 4 18 4 0 0 ./. 6 0 11 0 40 11 41 11 11 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763404368 18 63682639 G GA 480 PASS - - - - - Ins - I 63682639 63682649 1 16 428.562 - - 9 1 1 - - ./. 0 0 0 0 20 8 20 9 0 0 ./. 7 1 10 3 31 15 31 15 10 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763405595 18 66600677 A AT 420 PASS CCDC102B CCDS11996.2 r.? - - Ins intronic I 66600677 66600683 1 14 374.992 - - 5 1 1 CCDC102B|CCDS11996.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC102B|CCDS11996.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 1 10 3 38 28 38 29 10 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763409676 18 77588947 CTGTGTGTGCATGTGTCTGTATGTGGGTGTCTATGTGTGCGTGTGTGTAACATGTCCATGATGTGTGCATGTGTCTGTGTGTGGGTGTCTATGTGTGCGTGTGTGTAACGTGTCTGTGTGTGCATGTGTCTGTGTGTGGGTGTCTATGTGTGCGTGTGTGTAACATGTCCATGATGTGTGCATGTGTCTGTGTGTGGGTGTCTATGTGTGCGTGTGTGTAACATGTCCATGA C 269 PASS - - - - - Del - D 77588947 77589185 231 12 261.831 - - 1 1 - - - ./. 0 0 0 0 25 12 25 12 0 0 ./. 2 3 0 0 45 35 45 35 2 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763411237 19 3561966 G GT 780 PASS RAX2 CCDS12112.1 r.? - - Ins intronic I 3561966 3561975 1 44 697.037 - - 8 1 1 RAX2|CCDS12112.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 RAX2|CCDS12112.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 10 4 13 21 30 21 30 4 13 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763423299 19 32101246 G GT 840 PASS ENSG00000232700 ENST00000441786 r.? - - Ins intronic I 32101246 32101254 1 63 747.645 - - 7 1 1 ENSG00000232700|ENST00000441786|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000232700|ENST00000441786|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 8 12 12 41 28 41 28 12 12 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763428101 19 44298640 C CT 780 PASS LYPD5 CCDS46096.1 r.? - - Ins downstream I 44298640 44298649 1 54 691.017 - - 8 1 1 LYPD5|CCDS46096.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ZNF230|ENST00000421176|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 10 26 10 0 0 ./. 5 8 10 10 39 26 39 26 10 10 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763429786 19 48013321 A ACT 1440 PASS NAPA CCDS12702.1 r.? - - Ins intronic I 48013321 48013326 2 165 1269.98 - - 2 1 1 NAPA|CCDS12702.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NAPA|CCDS12702.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 14 10 16 11 41 27 41 27 16 12 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763432453 19 53889132 GA G 300 PASS ZNF525 ENST00000467003 r.5394delA c.? p.? Del 3'UTR variant D 53889132 53889142 1 12 271.102 - - 9 1 1 ZNF525|ENST00000467003|r.5394delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ZNF525|ENST00000467003|r.5394delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 18 11 18 11 0 0 ./. 2 3 2 6 21 20 21 20 2 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763438778 2 11414690 C CA 420 PASS ROCK2 CCDS42654.1 r.? - - Ins intronic I 11414690 11414697 1 20 372.172 - - 6 1 1 ROCK2|CCDS42654.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROCK2|CCDS42654.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 3 5 4 32 26 32 27 5 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763441519 2 20091639 G GA 300 PASS TTC32 CCDS33151.1 r.? - - Ins downstream I 20091639 20091649 1 12 253.194 - - 9 1 1 TTC32|CCDS33151.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TTC32|CCDS33151.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 24 17 24 18 0 0 ./. 2 3 2 4 30 30 30 31 2 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763442968 2 24805231 C CA 840 PASS NCOA1 CCDS1713.1 r.? - - Ins intronic I 24805231 24805239 1 60 743.742 - - 7 1 1 NCOA1|CCDS1713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NCOA1|CCDS1713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 9 5 14 9 25 28 25 28 14 9 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763448476 2 40299267 A AT 480 PASS - - - - - Ins - I 40299267 40299277 1 24 422.931 - - 9 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 3 5 7 13 21 29 21 29 7 13 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763453564 2 55680819 TAATA T 300 PASS - - - - - Del - D 55680819 55680828 4 12 268.847 - - 2 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 2 3 4 5 28 37 28 37 4 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763454802 2 60347061 A AT 780 PASS - - - - - Ins - I 60347061 60347070 1 50 686.962 - - 8 1 1 - - ./. 0 0 0 0 18 13 19 13 0 0 ./. 9 4 14 5 39 24 40 24 14 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763457130 2 66833454 A AT 358 PASS - - - - - Ins - I 66833454 66833462 1 18 371.57 - - 7 1 1 - - ./. 0 0 0 0 12 15 12 16 0 0 ./. 5 2 6 2 30 19 30 19 6 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763467262 2 101901040 C CA 300 PASS RNF149 CCDS2051.1 r.? - - Ins intronic I 101901040 101901049 1 12 256.204 - - 8 1 1 RNF149|CCDS2051.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF149|CCDS2051.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 3 3 25 37 25 37 3 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763468196 2 105172089 C CT 300 PASS - - - - - Ins - I 105172089 105172098 1 6 265.837 - - 8 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 0 5 1 7 23 22 23 23 1 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763469919 2 111471927 C CCATAT 389 PASS - - - - - Ins - I 111471927 111471933 5 20 355.314 - - 1 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 4 3 8 26 24 26 25 3 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763471822 2 117547887 G GT 1020 PASS - - - - - Ins - I 117547887 117547889 1 88 903.846 - - 1 1 1 - - ./. 0 0 0 0 10 17 10 18 0 0 ./. 7 10 8 13 16 30 17 31 8 13 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763485398 2 159078982 T TTC 300 PASS CCDC148 CCDS33304.1 r.? - - Ins intronic I 159078982 159079002 2 6 259.214 - - 9 1 - CCDC148|CCDS33304.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC148|CCDS33304.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 0 5 0 1 25 36 25 37 0 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763489876 2 172818634 T TA 660 PASS HAT1 CCDS2245.1 r.? - - Ins intronic I 172818634 172818642 1 40 584.842 - - 7 1 1 HAT1|CCDS2245.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HAT1|CCDS2245.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 7 4 10 5 32 22 32 22 10 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763492880 2 182135191 A AGGAC 298 PASS - - - - - Ins - I 182135191 182135196 4 15 308.167 - - 1 1 1 - - ./. 0 0 0 0 19 10 20 10 0 0 ./. 2 4 4 6 27 15 28 16 4 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763495748 2 191592949 A AT 1020 PASS - - - - - Ins - I 191592949 191592957 1 90 903.846 - - 7 1 1 - - ./. 0 0 0 0 19 13 19 14 0 0 ./. 9 8 22 14 38 31 38 31 22 14 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763504501 2 217628309 G GA 720 PASS - - - - - Ins - I 217628309 217628318 1 49 636.805 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 6 7 8 34 29 35 29 7 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763511729 2 238697098 C CTAT 538 PASS - - - - - Ins - I 238697098 238697100 3 36 519.633 - - 0 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 5 6 6 26 21 26 22 6 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763511955 2 239287253 TGA T 360 PASS TRAF3IP1 CCDS33415.1 r.? - - Del intronic D 239287253 239287273 2 15 322.617 - - 9 1 1 TRAF3IP1|CCDS33415.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAF3IP1|CCDS33415.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 4 3 28 29 28 29 4 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763512257 2 240370651 TA T 300 PASS - - - - - Del - D 240370651 240370653 1 6 266.439 - - 1 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 0 10 0 25 19 25 19 10 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763516435 20 7195327 C CT 900 PASS - - - - - Ins - I 7195327 7195334 1 70 802.672 - - 6 1 1 - - ./. 0 0 0 0 13 14 14 14 0 0 ./. 9 6 10 10 39 37 39 39 10 10 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763521983 20 22177077 CA C 403 PASS - - - - - Del - D 22177077 22177087 1 90 921.976 - - 9 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 8 9 8 11 27 31 28 31 9 11 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763522229 20 22929544 GCA G 300 PASS - - - - - Del - D 22929544 22929560 2 12 271.169 - - 7 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 2 3 2 48 41 48 41 3 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763524631 20 29614398 CT C 438 PASS FRG1B ENST00000278882 r.? - - Del intronic D 29614398 29614400 1 14 705.041 - - 1 1 1 FRG1B|ENST00000278882|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FRG1B|ENST00000278882|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 64 73 64 73 0 0 ./. 0 13 0 15 63 223 63 223 0 15 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763531388 20 45344722 A AC 1018 PASS SLC2A10 CCDS13402.1 r.? - - Ins intronic I 45344722 45344729 1 99 964.169 - - 6 1 1 SLC2A10|CCDS13402.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC2A10|CCDS13402.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 10 8 12 11 39 53 39 53 12 11 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763541251 21 10723786 T TTTC 336 PASS - - - - - Ins - I 10723786 10723790 3 24 630.871 - - 1 1 1 - - ./. 0 0 0 0 171 225 172 225 0 0 ./. 11 1 32 5 534 364 539 364 32 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763554344 21 45307467 GCA G 300 PASS AGPAT3 CCDS13703.1 r.? - - Del intronic D 45307467 45307484 2 12 271.894 - - 8 1 1 AGPAT3|CCDS13703.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 AGPAT3|CCDS13703.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 21 10 21 0 0 ./. 2 3 2 3 20 27 20 27 2 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763565510 22 44321025 A AC 420 PASS PNPLA3 CCDS14054.1 r.? - - Ins intronic I 44321025 44321032 1 18 377.989 - - 6 1 1 PNPLA3|CCDS14054.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PNPLA3|CCDS14054.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 9 13 0 0 ./. 5 2 6 3 20 21 20 21 6 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763567226 22 49626914 CTTG C 327 PASS ENSG00000231223 ENST00000412147 r.? - - Del intronic D 49626914 49626923 3 18 378.591 - - 2 1 1 ENSG00000231223|ENST00000412147|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000231223|ENST00000412147|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 2 6 2 17 15 17 15 6 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763580743 3 41115168 AGTT A 1167 PASS - - - - - Del - D 41115168 41115174 3 132 1131.42 - - 1 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 11 10 12 13 33 25 33 25 12 13 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763584784 3 53882532 T TC 480 PASS CHDH CCDS2873.1 r.? - - Ins upstream I 53882532 53882539 1 21 424.998 - - 6 1 1 CHDH|CCDS2873.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 IL17RB|CCDS2874.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 6 3 9 20 30 21 30 3 9 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763587890 3 63029583 G GA 480 PASS - - - - - Ins - I 63029583 63029591 1 9 424.998 - - 7 1 1 - - ./. 0 0 0 0 18 12 19 12 0 0 ./. 0 8 1 10 25 35 25 35 1 10 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763594017 3 79094806 T TA 480 PASS ROBO1 ENST00000464233 r.? - - Ins intronic I 79094806 79094814 1 24 426.202 - - 7 1 1 ROBO1|ENST00000464233|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROBO1|ENST00000464233|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 23 17 23 0 0 ./. 5 3 8 4 26 29 26 30 8 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763597442 3 90434059 C CT 298 PASS - - - - - Ins - I 90434059 90434067 1 33 638.701 - - 7 1 1 - - ./. 0 0 0 0 18 13 18 14 0 0 ./. 10 2 8 5 31 18 35 19 12 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763600582 3 104751547 TAC T 900 PASS - - - - - Del - D 104751547 104751560 2 72 806.354 - - 6 1 - - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 8 7 10 7 34 18 34 18 10 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763608681 3 129830922 A AC 360 PASS - - - - - Ins - I 129830922 129830923 1 12 317.845 - - 0 1 1 - - ./. 0 0 0 0 14 7 15 7 0 0 ./. 1 5 0 0 15 22 16 22 1 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763609311 3 132045302 C CA 720 PASS ACPP CCDS3073.1 r.? - - Ins intronic I 132045302 132045310 1 49 637.497 - - 7 1 1 ACPP|CCDS3073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACPP|CCDS3073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 6 6 8 31 29 31 29 6 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763609644 3 133243908 T TG 420 PASS - - - - - Ins - I 133243908 133243917 1 20 372.927 - - 8 1 1 - - ./. 0 0 0 0 18 8 20 8 0 0 ./. 4 3 8 8 26 17 26 17 8 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763612453 3 142227778 A AG 360 PASS ATR CCDS3124.1 r.? - - Ins intronic I 142227778 142227779 1 12 308.212 - - 0 1 - ATR|CCDS3124.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATR|CCDS3124.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 1 5 4 9 24 21 24 22 4 9 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763618806 3 163233796 C CT 480 PASS - - - - - Ins - I 163233796 163233805 1 24 426.202 - - 8 1 1 - - ./. 0 0 0 0 21 11 21 12 0 0 ./. 3 5 4 7 22 27 24 27 4 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763622375 3 175023314 C CT 269 PASS NAALADL2 CCDS46960.1 r.? - - Ins intronic I 175023314 175023324 1 12 265.172 - - 9 1 1 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 2 3 2 29 28 29 28 3 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763634774 4 13327813 C CA 420 PASS - - - - - Ins - I 13327813 13327820 1 20 372.755 - - 6 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 4 5 5 29 24 29 24 5 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763634811 4 13540517 C CA 300 PASS NKX3-2 CCDS3410.1 r.? - - Ins downstream I 13540517 13540526 1 12 265.652 - - 8 1 1 NKX3-2|CCDS3410.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 NKX3-2|CCDS3410.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 15 15 17 15 0 0 ./. 3 2 6 3 32 28 32 28 6 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763637823 4 23639636 AC A 420 PASS - - - - - Del - D 23639636 23639638 1 20 376.97 - - 1 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 4 3 4 3 22 17 22 17 4 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763640608 4 31947109 GCT G 360 PASS - - - - - Del - D 31947109 31947129 2 16 323.117 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 3 3 3 36 25 36 25 3 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763641177 4 34149541 A AT 300 PASS - - - - - Ins - I 34149541 34149551 1 12 265.652 - - 9 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 3 2 3 2 28 30 29 30 3 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763649331 4 58744979 AT A 780 PASS - - - - - Del - D 58744979 58744981 1 56 700.087 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 7 6 8 7 29 26 29 26 8 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763650674 4 62582870 A AT 600 PASS LPHN3 ENST00000512091 r.? - - Ins intronic I 62582870 62582879 1 35 532.508 - - 8 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 6 7 7 30 31 30 31 7 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763652513 4 68150254 A AT 720 PASS - - - - - Ins - I 68150254 68150261 1 45 639.009 - - 6 1 1 - - ./. 0 0 0 0 9 21 10 21 0 0 ./. 4 8 8 12 34 41 34 41 8 12 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763661674 4 96849172 CTT C 480 PASS - - - - - Del - D 96849172 96849176 2 9 430.823 - - 3 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 8 0 8 1 30 26 30 26 8 1 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763666216 4 113583122 GATA G 420 PASS LARP7 CCDS3701.2 r.? - - Del downstream D 113583122 113583129 3 20 376.97 - - 2 1 1 LARP7|CCDS3701.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LARP7|CCDS3701.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 4 6 5 31 25 31 25 6 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763667705 4 118224101 CA C 300 PASS - - - - - Del - D 118224101 118224104 1 12 268.06 - - 2 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 2 3 4 4 17 20 17 20 4 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763667971 4 118968697 T TA 1020 PASS NDST3 CCDS3708.1 r.? - - Ins intronic I 118968697 118968703 1 90 905.263 - - 5 1 1 NDST3|CCDS3708.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NDST3|CCDS3708.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 9 8 10 10 23 29 23 29 10 10 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763671906 4 130832327 TGTATACATG T 464 PASS - - - - - Del - D 130832327 130832338 9 81 861.645 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 8 8 8 8 20 18 20 18 8 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763674828 4 139726972 G GA 360 PASS - - - - - Ins - I 139726972 139726981 1 16 319.505 - - 8 1 1 - - ./. 0 0 0 0 26 10 26 11 0 0 ./. 3 3 5 4 25 32 26 32 5 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763678037 4 150889478 G GA 300 PASS - - - - - Ins - I 150889478 150889486 1 12 266.254 - - 7 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 2 5 2 26 25 26 25 5 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763680921 4 159702503 GTTCTTGTGAGGCAAGA G 493 PASS FNIP2 CCDS47155.1 r.? - - Del intronic D 159702503 159702521 16 84 914.294 - - 1 1 1 FNIP2|CCDS47155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FNIP2|CCDS47155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 11 6 12 6 27 20 27 20 12 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763683845 4 167465530 G GA 360 PASS - - - - - Ins - I 167465530 167465538 1 16 319.505 - - 7 1 1 - - ./. 0 0 0 0 26 21 26 21 0 0 ./. 3 3 7 10 22 29 23 30 7 10 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763685799 4 173332444 G GA 360 PASS GALNTL6 CCDS34104.1 r.? - - Ins intronic I 173332444 173332454 1 7 317.096 - - 9 1 1 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 0 6 2 9 29 26 29 26 2 9 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763686469 4 175332587 CA C 720 PASS - - - - - Del - D 175332587 175332594 1 48 645.03 - - 6 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 5 7 5 8 30 28 30 28 5 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763698810 5 13460953 T TA 360 PASS - - - - - Ins - I 13460953 13460961 1 12 319.032 - - 7 1 1 - - ./. 0 0 0 0 7 20 7 20 0 0 ./. 1 5 1 6 7 28 7 28 1 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763699920 5 16612905 ATG A 300 PASS FAM134B CCDS43304.1 r.? - - Del intronic D 16612905 16612920 2 10 266.963 - - 7 1 1 FAM134B|CCDS43304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM134B|CCDS43304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 1 4 2 36 31 36 31 4 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763701157 5 19389043 G GT 300 PASS - - - - - Ins - I 19389043 19389048 1 12 266.361 - - 4 1 1 - - ./. 0 0 0 0 10 1 10 1 0 0 ./. 3 2 3 3 34 21 34 22 3 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763704504 5 28582965 C CA 660 PASS - - - - - Ins - I 28582965 28582975 1 40 584.189 - - 9 1 1 - - ./. 0 0 0 0 17 19 18 19 0 0 ./. 7 4 11 5 38 25 40 25 11 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763723624 5 88999417 G GT 840 PASS - - - - - Ins - I 88999417 88999426 1 64 744.608 - - 8 1 1 - - ./. 0 0 0 0 21 11 22 11 0 0 ./. 7 7 9 11 29 36 29 36 9 11 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763725489 5 95839603 A AT 660 PASS - - - - - Ins - I 95839603 95839609 1 42 585.393 - - 5 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 6 5 10 5 43 35 46 35 10 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763727609 5 101770518 AT A 480 PASS SLCO6A1 CCDS34206.1 r.? - - Del intronic D 101770518 101770528 1 24 430.995 - - 9 1 1 SLCO6A1|CCDS34206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLCO6A1|CCDS34206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 5 9 8 31 28 31 28 9 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763733692 5 120214907 ACT A 1080 PASS - - - - - Del - D 120214907 120214914 2 99 969.738 - - 3 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 8 10 9 14 25 30 25 30 9 14 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763745421 5 154929718 TTC T 300 PASS - - - - - Del - D 154929718 154929737 2 12 268.168 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 3 2 37 38 37 38 3 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763751440 5 172036053 G GA 900 PASS - - - - - Ins - I 172036053 172036058 1 72 799.084 - - 4 1 1 - - ./. 0 0 0 0 21 12 22 12 0 0 ./. 8 7 13 9 38 30 38 30 13 9 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763751904 5 173189631 G GT 780 PASS - - - - - Ins - I 173189631 173189632 1 56 692.54 - - 0 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 7 6 7 8 23 32 23 32 7 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763753627 5 177603205 C CT 269 PASS - - - - - Ins - I 177603205 177603214 1 12 264.555 - - 8 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 2 3 6 5 25 22 26 25 6 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763755012 5 180153643 TA T 300 PASS - - - - - Del - D 180153643 180153652 1 10 269.372 - - 8 1 1 - - ./. 0 0 0 0 25 14 25 14 0 0 ./. 4 1 6 7 43 32 43 32 6 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763759652 6 12779619 C CA 569 PASS PHACTR1 ENST00000379350 r.? - - Ins intronic I 12779619 12779629 1 36 530.761 - - 9 1 1 PHACTR1|ENST00000379350|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PHACTR1|ENST00000379350|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 16 21 16 0 0 ./. 5 5 7 6 28 27 28 27 7 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763763481 6 23499587 C CT 360 PASS - - - - - Ins - I 23499587 23499597 1 16 319.66 - - 9 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 3 3 4 5 15 22 15 22 4 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763779296 6 71357130 C CT 360 PASS - - - - - Ins - I 71357130 71357134 1 12 318.456 - - 3 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 1 5 1 5 19 22 20 22 1 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763783297 6 84710205 A AT 480 PASS - - - - - Ins - I 84710205 84710212 1 24 427.017 - - 6 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 5 6 5 21 30 21 30 6 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763787425 6 99512961 TAGC T 509 PASS - - - - - Del - D 99512961 99512969 3 30 485.812 - - 2 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 5 4 6 4 28 13 28 13 6 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763790755 6 111065735 T TA 269 PASS CDK19 CCDS5085.1 r.? - - Ins intronic I 111065735 111065745 1 10 259.661 - - 9 1 1 CDK19|CCDS5085.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDK19|CCDS5085.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 12 6 12 0 0 ./. 1 4 2 4 15 26 15 26 2 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763792574 6 117609239 A AC 540 PASS ROS1 CCDS5116.1 r.? - - Ins downstream I 117609239 117609246 1 28 480.394 - - 6 1 1 ROS1|CCDS5116.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ROS1|CCDS5116.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 3 6 4 14 12 14 12 6 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763796125 6 131275604 AAAACAAGATAATCCATT A 319 PASS EPB41L2 CCDS5141.1 r.? - - Del intronic D 131275604 131275639 17 40 591.964 - - 2 1 1 EPB41L2|CCDS5141.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPB41L2|CCDS5141.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 4 7 4 7 21 15 21 15 4 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763797485 6 136990479 C CGCA 329 PASS MAP3K5 CCDS5179.1 r.1668_1669insugc c.1307_1308insTGC p.A436_V437insA Ins inframe I 136990479 136990483 3 15 313.038 - - 1 1 1 MAP3K5|CCDS5179.1|r.1668_1669insugc|c.1307_1308insTGC|p.A436_V437insA|protein_coding:CDS:exon:insertion:inframe_variant:inframe_codon_gain|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001650:SO:0001651 MAP3K5|CCDS5179.1|r.1668_1669insugc|c.1307_1308insTGC|p.A436_V437insA|protein_coding:CDS:exon:insertion:inframe_variant:inframe_codon_gain|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001650:SO:0001651 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 2 9 2 23 14 23 15 9 2 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763799421 6 144872968 GTCT G 360 PASS UTRN CCDS34547.1 r.? - - Del intronic D 144872968 144872976 3 15 323.875 - - 2 1 1 UTRN|CCDS34547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UTRN|CCDS34547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 2 8 3 23 16 23 16 8 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763809637 7 6708097 A AT 540 PASS - - - - - Ins - I 6708097 6708107 1 28 476.372 - - 9 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 6 3 7 10 21 28 21 28 7 10 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763810034 7 7855669 T TA 300 PASS ENSG00000219545 ENST00000406829 r.? - - Ins intronic I 7855669 7855679 1 12 265.454 - - 9 1 1 ENSG00000219545|ENST00000406829|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000219545|ENST00000406829|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 14 17 0 0 ./. 2 3 4 7 26 27 26 27 4 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763823226 7 48289574 G GCCGTCCCACAAGATTGCCCCTACTTCAGACC 261 PASS ABCA13 CCDS47584.1 r.? - - Ins intronic I 48289574 48289577 31 28 317.428 - - 0 1 1 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 12 11 0 0 ./. 3 6 0 0 30 22 33 29 3 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763830895 7 68450265 C CT 538 PASS - - - - - Ins - I 68450265 68450275 1 27 518.265 - - 9 1 - - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 8 2 15 6 29 15 29 15 15 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763843628 7 106558060 C CA 540 PASS - - - - - Ins - I 106558060 106558069 1 28 469.749 - - 8 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 6 3 7 6 25 33 25 33 7 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763849135 7 125069940 A AT 300 PASS - - - - - Ins - I 125069940 125069948 1 12 266.658 - - 7 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 2 4 4 31 23 32 23 4 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763849763 7 126971631 C CA 420 PASS - - - - - Ins - I 126971631 126971639 1 20 373.321 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 3 5 4 32 24 33 24 5 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763852711 7 134471347 A AT 300 PASS CALD1 CCDS5836.1 r.? - - Ins intronic I 134471347 134471357 1 10 266.056 - - 9 1 1 CALD1|CCDS5836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CALD1|CCDS5836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 1 4 2 4 16 27 18 27 2 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763853548 7 136829163 C CA 360 PASS - - - - - Ins - I 136829163 136829171 1 16 319.99 - - 7 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 3 3 4 3 29 19 29 19 4 3 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763853746 7 137523252 T TA 900 PASS DGKI CCDS5845.1 r.? - - Ins intronic I 137523252 137523259 1 60 797.566 - - 6 1 1 DGKI|CCDS5845.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DGKI|CCDS5845.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 11 4 15 11 29 32 29 32 15 11 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763857006 7 147563853 G GGT 509 PASS CNTNAP2 CCDS5889.1 r.? - - Ins intronic I 147563853 147563854 2 18 474.566 - - 0 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 1 8 0 0 12 24 12 24 1 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763858566 7 151968180 T TAA 321 PASS BAGE3 CCDS5931.1 r.? - - Ins intronic I 151968180 151968183 2 10 474.566 - - 2 1 1 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 30 29 30 29 0 0 ./. 0 9 0 12 44 136 44 137 0 12 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763858639 7 151985769 GA G 305 PASS BAGE3 CCDS5931.1 r.? - - Del intronic D 151985769 151985773 1 10 485.403 - - 3 1 1 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 9 0 10 0 120 21 120 21 10 0 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763860740 7 157178220 A AT 365 PASS DNAJB6 CCDS5946.1 r.? - - Ins intronic I 157178220 157178228 1 24 479.382 - - 7 1 1 DNAJB6|CCDS5946.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAJB6|CCDS5946.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 7 2 9 5 26 27 27 27 9 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763862056 8 2114242 AT A 456 PASS - - - - - Del - D 2114242 2114252 1 24 429.637 - - 9 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 5 4 5 6 24 6 24 4 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763865672 8 11572696 TA T 300 PASS GATA4 CCDS5983.1 r.? - - Del intronic D 11572696 11572705 1 12 270.028 - - 8 1 1 GATA4|CCDS5983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GATA4|CCDS5983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 3 4 4 22 17 22 17 4 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763869186 8 20515761 A AT 840 PASS - - - - - Ins - I 20515761 20515768 1 60 744.64 - - 6 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 9 5 11 6 23 24 23 24 11 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763874537 8 36189056 CTG C 300 PASS - - - - - Del - D 36189056 36189073 2 10 270.028 - - 8 1 - - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 1 4 1 4 35 30 35 30 1 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763879622 8 56119140 GA G 540 PASS XKR4 CCDS34893.1 r.? - - Del intronic D 56119140 56119149 1 18 486.051 - - 8 1 1 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 8 1 9 1 24 15 24 15 9 1 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763883698 8 70091850 G GA 869 PASS - - - - - Ins - I 70091850 70091860 1 72 796.84 - - 9 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 8 7 11 8 32 26 32 26 11 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763886781 8 80448041 CG C 816 PASS - - - - - Del - D 80448041 80448043 1 55 739.824 - - 1 1 1 - - ./. 0 0 0 0 18 5 18 5 0 0 ./. 10 4 13 6 21 14 21 14 13 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763887244 8 82288526 C CT 540 PASS - - - - - Ins - I 82288526 82288535 1 28 480.633 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 8 0 0 ./. 3 6 3 5 24 36 24 38 3 6 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763891392 8 96062447 TC T 540 PASS C8orf38 CCDS6266.2 r.? - - Del intronic D 96062447 96062451 1 30 486.051 - - 3 1 1 C8orf38|CCDS6266.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C8orf38|CCDS6266.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 5 6 8 25 27 25 27 6 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763893909 8 104279013 A AT 480 PASS - - - - - Ins - I 104279013 104279020 1 21 427.229 - - 6 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 6 2 7 26 30 26 30 2 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763902090 8 130730395 C CA 420 PASS - - - - - Ins - I 130730395 130730404 1 18 373.223 - - 8 1 1 - - ./. 0 0 0 0 21 25 21 25 0 0 ./. 5 2 7 4 31 34 31 34 7 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763904216 8 137770178 AT A 360 PASS - - - - - Del - D 137770178 137770184 1 16 324.034 - - 5 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 3 4 5 26 18 26 18 4 5 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763910514 9 12593528 CTTA C 958 PASS - - - - - Del - D 12593528 12593540 3 84 920.378 - - 3 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 6 11 7 13 15 21 15 21 7 13 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763921807 9 72166930 G GT 960 PASS APBA1 CCDS6630.1 r.? - - Ins intronic I 72166930 72166935 1 72 856.605 - - 4 1 1 APBA1|CCDS6630.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 APBA1|CCDS6630.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 12 0 0 ./. 11 5 13 10 23 23 23 23 13 10 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763934461 9 118875018 G GA 1260 PASS - - - - - Ins - I 118875018 118875028 1 130 1122.49 - - 9 1 1 - - ./. 0 0 0 0 15 27 15 27 0 0 ./. 12 9 16 13 31 24 31 24 16 13 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763938867 9 134005238 TCCTCCACCCC T 290 PASS NUP214 CCDS6940.1 r.? - - Del intronic D 134005238 134005249 10 27 541.399 - - 1 1 1 NUP214|CCDS6940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUP214|CCDS6940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 8 2 8 8 23 8 23 2 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763942886 X 11496801 G GA 480 PASS ARHGAP6 CCDS14140.1 r.? - - Ins intronic I 11496801 11496810 1 21 428.585 - - 8 1 1 ARHGAP6|CCDS14140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP6|CCDS14140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 6 2 11 4 21 11 21 11 11 4 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763943679 X 14984112 G GT 660 PASS - - - - - Ins - I 14984112 14984120 1 42 589.304 - - 7 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 6 9 8 23 18 23 18 9 8 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763949768 X 45086373 T TA 840 PASS - - - - - Ins - I 45086373 45086379 1 55 749.421 - - 5 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 10 4 15 7 22 17 22 17 15 7 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763955182 X 79843035 G GT 660 PASS - - - - - Ins - I 79843035 79843044 1 42 589.304 - - 8 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 5 12 11 21 25 21 25 12 11 1 1 1 1 1 1 1 1 2772655 PD7311a PD7311b 2763970078 X 154106629 G GA 660 PASS F8 CCDS35457.1 r.? - - Ins intronic I 154106629 154106637 1 42 589.304 - - 7 1 1 F8|CCDS35457.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 F8|CCDS35457.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 6 5 8 5 22 15 22 16 8 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753893545 1 22739920 TG T 480 PASS - - - - - Del - D 22739920 22739924 1 24 428.064 - - 3 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 5 3 9 3 14 16 14 16 9 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753898468 1 40332155 TGAA T 625 PASS TRIT1 CCDS30681.1 r.? - - Del intronic D 40332155 40332161 3 54 698.313 - - 1 1 1 TRIT1|CCDS30681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIT1|CCDS30681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 8 5 8 17 22 17 22 5 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753899413 1 43785584 AC A 360 PASS TIE1 CCDS482.1 r.? - - Del intronic D 43785584 43785590 1 16 321.048 - - 5 1 1 TIE1|CCDS482.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TIE1|CCDS482.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 5 3 16 5 16 5 5 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753901275 1 51178551 T TG 269 PASS FAF1 CCDS554.1 r.? - - Ins intronic I 51178551 51178559 1 6 265.433 - - 7 1 1 FAF1|CCDS554.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAF1|CCDS554.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 11 4 11 0 0 ./. 0 5 3 6 13 16 13 19 3 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753922161 1 143257817 TGA T 275 PASS - - - - - Del - D 143257817 143257821 2 16 430.472 - - 1 1 1 - - ./. 0 0 0 0 33 35 33 35 0 0 ./. 7 1 9 1 120 38 120 38 9 1 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753945247 1 214039127 T TG 540 PASS - - - - - Ins - I 214039127 214039130 1 24 478.26 - - 2 1 1 - - ./. 0 0 0 0 5 12 6 12 0 0 ./. 2 7 4 7 21 31 22 31 4 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753946327 1 217247106 AAGG A 360 PASS ESRRG CCDS1517.1 r.? - - Del intronic D 217247106 217247114 3 15 322.854 - - 2 1 1 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 2 4 4 4 19 25 19 25 4 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753946790 1 218738973 G GT 600 PASS - - - - - Ins - I 218738973 218738975 1 35 531.467 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 6 6 7 30 22 30 22 6 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753952214 1 234876205 C CA 300 PASS - - - - - Ins - I 234876205 234876215 1 10 260.014 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 1 6 29 33 29 34 1 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753965210 10 20713125 C CT 420 PASS - - - - - Ins - I 20713125 20713134 1 20 373.937 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 17 0 0 ./. 4 3 9 4 16 18 16 18 9 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753975126 10 55673503 C CA 257 PASS PCDH15 CCDS44404.1 r.? - - Ins intronic I 55673503 55673513 1 6 267.098 - - 9 1 - PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 0 5 1 30 25 33 25 5 1 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753975814 10 57621627 T TA 300 PASS - - - - - Ins - I 57621627 57621630 1 12 267.098 - - 2 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 2 3 5 6 19 23 19 23 5 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753977270 10 62353301 A AT 480 PASS ANK3 ENST00000373827 r.? - - Ins intronic I 62353301 62353311 1 25 427.357 - - 9 1 1 ANK3|ENST00000373827|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANK3|ENST00000373827|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 4 7 5 24 18 24 18 7 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753984054 10 87648886 TGGAG T 569 PASS GRID1 CCDS31236.1 r.? - - Del intronic D 87648886 87648894 4 36 539.012 - - 1 1 1 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 5 5 0 0 18 18 18 18 5 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753985336 10 92487261 T TA 540 PASS - - - - - Ins - I 92487261 92487263 1 24 480.776 - - 1 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 2 7 2 7 17 15 17 15 2 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753987858 10 101178613 TG T 358 PASS GOT1 CCDS7479.1 r.? - - Del intronic D 101178613 101178616 1 18 378.152 - - 2 1 1 GOT1|CCDS7479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GOT1|CCDS7479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 5 5 8 15 21 15 21 5 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753990530 10 111103290 TA T 600 PASS - - - - - Del - D 111103290 111103293 1 36 540.216 - - 2 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 5 5 6 7 17 16 17 16 6 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753993968 10 122412743 C CT 420 PASS - - - - - Ins - I 122412743 122412751 1 18 371.529 - - 7 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 2 5 3 10 23 21 23 22 3 10 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753997526 10 134213206 ATGTGG A 596 PASS PWWP2B CCDS7667.2 r.? - - Del intronic D 134213206 134213214 5 48 647.658 - - 1 1 1 PWWP2B|CCDS7667.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PWWP2B|CCDS7667.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 7 7 8 12 19 12 19 7 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2753997683 10 135113669 T TA 540 PASS TUBGCP2 CCDS7676.1 r.? - - Ins intronic I 135113669 135113679 1 28 479.572 - - 9 1 1 TUBGCP2|CCDS7676.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TUBGCP2|CCDS7676.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 3 10 6 25 18 25 19 10 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754000010 11 6263300 GATA G 300 PASS CNGA4 CCDS31408.1 r.? - - Del intronic D 6263300 6263319 3 10 270.522 - - 6 1 1 CNGA4|CCDS31408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNGA4|CCDS31408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 1 5 1 25 33 25 33 5 1 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754001966 11 11501172 C CA 600 PASS GALNTL4 CCDS7807.1 r.? - - Ins intronic I 11501172 11501179 1 36 535.024 - - 6 1 1 GALNTL4|CCDS7807.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GALNTL4|CCDS7807.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 5 5 7 7 20 19 20 19 7 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754002659 11 13803990 AT A 420 PASS - - - - - Del - D 13803990 13803995 1 18 378.731 - - 4 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 2 7 6 21 18 21 18 7 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754008439 11 33168645 TG T 569 PASS CSTF3 CCDS7883.1 r.? - - Del intronic D 33168645 33168649 1 36 541.044 - - 3 1 1 CSTF3|CCDS7883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSTF3|CCDS7883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 5 6 5 16 15 16 15 6 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754009365 11 36799583 A ATATTC 598 PASS - - - - - Ins - I 36799583 36799595 5 40 562.036 - - 2 1 1 - - ./. 0 0 0 0 14 15 14 16 0 0 ./. 7 4 8 5 23 13 24 13 8 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754016650 11 66384599 CG C 540 PASS RBM14 CCDS8147.1 r.? - - Del intronic D 66384599 66384605 1 30 480.919 - - 5 1 1 RBM14|CCDS8147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBM14|CCDS8147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 4 6 4 10 15 10 15 6 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754019621 11 76941475 TCA T 360 PASS GDPD4 CCDS8249.1 r.? - - Del intronic D 76941475 76941478 2 15 324.627 - - 1 1 1 GDPD4|CCDS8249.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GDPD4|CCDS8249.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 4 7 7 20 16 20 16 7 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754020564 11 80143196 TTTATA T 569 PASS - - - - - Del - D 80143196 80143203 5 32 541.045 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 7 4 7 17 23 17 23 4 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754021354 11 83002581 GCTAGGATACGCAAGGATTGCA G 377 PASS - - - - - Del - D 83002581 83002603 21 54 703.358 - - 1 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 8 5 5 4 19 14 22 15 8 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754035925 11 134505057 A AT 480 PASS - - - - - Ins - I 134505057 134505060 1 21 428.019 - - 2 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 6 2 6 9 14 9 14 2 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754036564 12 1380357 CTT C 660 PASS ERC1 CCDS8508.1 r.? - - Del intronic D 1380357 1380362 2 42 595.26 - - 4 1 1 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 1 16 1 0 0 ./. 5 6 6 7 17 17 17 17 6 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754038187 12 7091060 GT G 480 PASS ENSG00000111684 CCDS8572.1 r.485delA c.371delA p.Y124fs*25 Del frameshift D 7091060 7091062 1 24 432.916 - - 1 1 1 ENSG00000111684|CCDS8572.1|r.485delA|c.371delA|p.Y124fs*25|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ENSG00000111684|CCDS8572.1|r.485delA|c.371delA|p.Y124fs*25|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 3 5 7 17 10 17 10 5 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754047945 12 39719505 CTAAA C 420 PASS KIF21A CCDS31773.1 r.? - - Del intronic D 39719505 39719514 4 20 378.802 - - 2 1 1 KIF21A|CCDS31773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF21A|CCDS31773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 4 3 6 6 12 14 12 14 6 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754053699 12 61071303 TTA T 900 PASS - - - - - Del - D 61071303 61071307 2 72 808.707 - - 1 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 7 8 8 9 15 18 15 18 8 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754055494 12 67362815 TTAAG T 509 PASS - - - - - Del - D 67362815 67362822 4 30 487.031 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 4 7 5 22 12 22 12 7 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754058156 12 77098822 CTT C 840 PASS - - - - - Del - D 77098822 77098826 2 63 757.001 - - 3 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 8 8 9 21 23 21 23 8 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754064376 12 99602613 C CT 660 PASS ANKS1B ENST00000329257 r.? - - Ins intronic I 99602613 99602622 1 40 588.637 - - 8 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 14 17 0 0 ./. 4 7 7 12 21 33 21 33 7 12 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754066494 12 107087474 TAGTC T 718 PASS RFX4 CCDS9106.1 r.? - - Del intronic D 107087474 107087481 4 50 702.284 - - 1 1 1 RFX4|CCDS9106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RFX4|CCDS9106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 9 5 10 12 23 12 23 5 10 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754091385 13 71009087 CAT C 480 PASS - - - - - Del - D 71009087 71009092 2 21 433.279 - - 2 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 2 6 6 8 19 20 19 20 6 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754094710 13 81863330 G GA 900 PASS - - - - - Ins - I 81863330 81863337 1 72 804.497 - - 6 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 8 7 9 9 20 23 20 23 9 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754101877 13 105829142 GT G 540 PASS - - - - - Del - D 105829142 105829146 1 30 488.117 - - 3 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 5 5 5 13 8 13 8 5 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754107970 14 29491310 ATTTC A 449 PASS - - - - - Del - D 29491310 29491322 4 24 429.58 - - 2 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 5 6 6 18 18 18 18 6 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754109955 14 35526308 GT G 600 PASS FAM177A1 CCDS41944.1 r.? - - Del intronic D 35526308 35526312 1 35 542.996 - - 3 1 1 FAM177A1|CCDS41944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM177A1|CCDS41944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 6 4 7 5 18 18 18 18 7 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754111841 14 41723703 CT C 600 PASS - - - - - Del - D 41723703 41723705 1 35 542.996 - - 1 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 4 6 5 7 20 13 20 13 5 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754125735 14 91429028 TTTAACGTAGTACAAAATTTTGGCACGATTCCAAAATTGTAAGAACAATACAAAGAATCCCTATATGCTCA T 348 PASS RPS6KA5 CCDS9893.1 r.? - - Del intronic D 91429028 91429102 70 48 650.993 - - 1 1 1 RPS6KA5|CCDS9893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPS6KA5|CCDS9893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 7 5 0 0 13 12 20 17 7 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754126997 14 95758342 CTG C 420 PASS CLMN CCDS9933.1 r.? - - Del intronic D 95758342 95758347 2 8 380.097 - - 2 1 1 CLMN|CCDS9933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLMN|CCDS9933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 7 0 7 1 21 11 21 11 7 1 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754127102 14 96044394 A AT 660 PASS - - - - - Ins - I 96044394 96044397 1 42 590.071 - - 2 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 6 7 7 21 16 21 16 7 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754132893 15 26576232 A AT 300 PASS - - - - - Ins - I 26576232 26576237 1 12 268.582 - - 4 1 1 - - ./. 0 0 0 0 15 14 16 14 0 0 ./. 3 2 3 2 24 18 24 18 3 2 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754133693 15 29560580 A AT 360 PASS NDNL2 CCDS10023.1 r.1453_1454insa c.? p.? Ins 3'UTR variant I 29560580 29560589 1 16 322.298 - - 8 1 1 NDNL2|CCDS10023.1|r.1453_1454insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 NDNL2|CCDS10023.1|r.1453_1454insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 3 6 4 18 17 18 17 6 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754137431 15 42094047 T TA 809 PASS MAPKBP1 CCDS32201.1 r.? - - Ins intronic I 42094047 42094057 1 64 748.416 - - 9 1 1 MAPKBP1|CCDS32201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAPKBP1|CCDS32201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 11 13 0 0 ./. 7 7 9 9 20 23 20 23 9 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754154127 15 99172022 C CA 629 PASS - - - - - Ins - I 99172022 99172030 1 42 590.88 - - 7 1 1 - - ./. 0 0 0 0 9 23 9 23 0 0 ./. 5 6 5 7 23 22 23 22 5 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754156889 16 6068997 AG A 300 PASS - - - - - Del - D 6068997 6069003 1 6 270.855 - - 5 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 0 5 0 6 8 13 8 13 0 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754159828 16 13830756 AT A 780 PASS - - - - - Del - D 13830756 13830762 1 54 705.789 - - 5 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 8 6 10 12 22 12 22 6 10 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754162688 16 23868315 C CT 749 PASS PRKCB CCDS10619.1 r.? - - Ins intronic I 23868315 23868325 1 56 693.146 - - 9 1 1 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 6 8 8 19 18 19 18 8 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754164887 16 31292500 CT C 342 PASS ITGAM CCDS45470.1 r.? - - Del intronic D 31292500 31292509 1 30 488.623 - - 8 1 1 ITGAM|CCDS45470.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGAM|CCDS45470.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 4 6 9 13 21 14 21 7 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754172086 16 62401363 C CA 420 PASS - - - - - Ins - I 62401363 62401371 1 20 374.622 - - 7 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 3 6 5 9 8 10 8 6 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754179949 17 7871854 TG T 660 PASS - - - - - Del - D 7871854 7871858 1 30 596.074 - - 3 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 2 9 5 10 8 12 8 12 5 10 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754185360 17 30340352 G GT 480 PASS - - - - - Ins - I 30340352 30340361 1 24 429.568 - - 8 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 5 4 8 17 22 17 22 4 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754203206 18 3230791 C CT 900 PASS AP005329.1 ENST00000513478 r.? - - Ins intronic I 3230791 3230795 1 66 802.082 - - 3 1 1 AP005329.1|ENST00000513478|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AP005329.1|ENST00000513478|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 10 6 11 15 25 15 25 6 11 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754208816 18 23844803 CTCTAT C 627 PASS TAF4B CCDS42421.1 r.? - - Del intronic D 23844803 23844816 5 45 651.178 - - 2 1 1 TAF4B|CCDS42421.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TAF4B|CCDS42421.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 8 4 8 5 18 14 18 14 8 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754210372 18 29543660 GCTGGCCCTTTTTTTTTTTGAGACGGAGTCTCACT G 290 PASS - - - - - Del - D 29543660 29543698 34 35 543.15 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 6 3 4 11 12 11 14 4 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754211120 18 32397591 T TAAGC 269 PASS DTNA CCDS45848.1 r.? - - Ins intronic I 32397591 32397596 4 12 259.534 - - 1 1 1 DTNA|CCDS45848.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DTNA|CCDS45848.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 3 3 20 21 22 22 3 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754214452 18 45124699 CCA C 360 PASS - - - - - Del - D 45124699 45124711 2 15 325.89 - - 5 1 1 - - ./. 0 0 0 0 18 7 19 7 0 0 ./. 4 2 5 3 16 9 17 10 5 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754223908 18 75640982 TC T 749 PASS - - - - - Del - D 75640982 75640989 1 56 705.493 - - 6 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 6 9 9 24 17 24 17 9 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754234227 19 28589672 AAAG A 720 PASS - - - - - Del - D 28589672 28589689 3 45 652.164 - - 5 1 1 - - ./. 0 0 0 0 7 27 7 27 0 0 ./. 4 8 4 9 21 19 21 19 4 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754238326 19 41493977 CG C 480 PASS CYP2B6 CCDS12570.1 r.? - - Del upstream D 41493977 41493979 1 24 433.572 - - 1 1 1 CYP2B6|CCDS12570.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CYP2B6|CCDS12570.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 3 7 4 15 7 15 7 7 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754248013 2 12233295 T TC 600 PASS - - - - - Ins - I 12233295 12233303 1 36 530.432 - - 7 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 5 5 7 7 27 27 27 27 7 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754250587 2 22096575 G GT 300 PASS - - - - - Ins - I 22096575 22096583 1 10 265.818 - - 7 1 1 - - ./. 0 0 0 0 20 15 21 15 0 0 ./. 4 1 6 1 18 10 20 10 6 1 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754266763 2 79535005 G GT 420 PASS CTNNA2 CCDS42703.2 r.? - - Ins intronic I 79535005 79535014 1 20 372.988 - - 8 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 3 4 5 8 15 21 15 21 5 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754270610 2 95776963 CTAAT C 1287 PASS MRPS5 CCDS2010.1 r.? - - Del intronic D 95776963 95776969 4 156 1239.38 - - 1 1 1 MRPS5|CCDS2010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRPS5|CCDS2010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 11 12 12 12 19 13 19 13 12 12 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754271214 2 99070639 AAG A 300 PASS INPP4A CCDS46369.1 r.? - - Del intronic D 99070639 99070656 2 12 269.431 - - 8 1 1 INPP4A|CCDS46369.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 INPP4A|CCDS46369.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 14 5 14 0 0 ./. 3 2 3 2 15 17 15 17 3 2 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754272773 2 105987083 A AT 1380 PASS FHL2 CCDS2070.1 r.? - - Ins intronic I 105987083 105987086 1 154 1225.53 - - 2 1 1 FHL2|CCDS2070.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FHL2|CCDS2070.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 13 10 15 15 15 23 15 23 15 15 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754274540 2 113630932 A AT 660 PASS - - - - - Ins - I 113630932 113630941 1 40 581.308 - - 8 1 1 - - ./. 0 0 0 0 10 13 11 13 0 0 ./. 7 4 11 7 31 22 31 22 11 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754274713 2 114341125 TTGCGTCTGGC T 437 PASS MIR1302-3 ENST00000408128 r.? - - Del upstream D 114341125 114341137 10 32 862.178 - - 1 1 1 MIR1302-3|ENST00000408128|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 MIR1302-3|ENST00000408128|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 25 26 25 26 0 0 ./. 15 1 15 0 41 22 41 23 15 1 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754277613 2 127308849 GAACAC G 629 PASS - - - - - Del - D 127308849 127308857 5 36 592.747 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 8 6 8 15 23 15 23 6 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754285694 2 158953891 C CTA 360 PASS UPP2 CCDS2207.1 r.? - - Ins upstream I 158953891 158953908 2 15 316.092 - - 8 1 1 UPP2|CCDS2207.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 UPP2|CCDS46435.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 2 8 4 17 12 17 13 8 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754286316 2 161089757 CTT C 480 PASS - - - - - Del - D 161089757 161089761 2 24 431.089 - - 3 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 5 5 5 25 14 25 14 5 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754295265 2 197734464 CT C 300 PASS PGAP1 CCDS2318.1 r.? - - Del intronic D 197734464 197734467 1 10 269.431 - - 2 1 1 PGAP1|CCDS2318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PGAP1|CCDS2318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 1 4 2 7 10 24 10 24 2 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754312929 20 29610647 CTG C 345 PASS FRG1B ENST00000278882 r.? - - Del upstream D 29610647 29610650 2 21 1088.74 - - 1 1 1 FRG1B|ENST00000278882|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 FRG1B|ENST00000278882|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 113 104 113 104 0 0 ./. 20 0 23 0 214 164 214 164 23 0 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754321616 20 59115126 C CT 540 PASS ENSG00000237240 ENST00000456299 r.? - - Ins intronic I 59115126 59115134 1 28 483.912 - - 7 1 1 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 7 9 7 0 0 ./. 3 6 7 7 18 21 18 22 7 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754323898 21 10009991 TC T 329 PASS - - - - - Del - D 10009991 10009993 1 27 544.68 - - 1 1 1 - - ./. 0 0 0 0 81 55 81 55 0 0 ./. 8 2 11 4 193 62 193 62 11 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754330321 21 27218432 TTGA T 687 PASS AP001441.1 ENST00000509807 r.? - - Del intronic D 27218432 27218440 3 56 706.88 - - 2 1 1 AP001441.1|ENST00000509807|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AP001441.1|ENST00000509807|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 6 7 8 9 17 21 17 21 8 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754332282 21 32865986 TA T 480 PASS TIAM1 CCDS13609.1 r.? - - Del intronic D 32865986 32865988 1 21 435.744 - - 1 1 1 TIAM1|CCDS13609.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TIAM1|CCDS13609.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 6 6 9 14 17 14 17 6 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754337703 22 17164946 ATTAAT A 420 PASS - - - - - Del - D 17164946 17164956 5 20 382.641 - - 1 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 3 4 4 5 14 25 14 25 4 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754341526 22 29192323 CATT C 420 PASS XBP1 CCDS13847.1 r.? - - Del intronic D 29192323 29192336 3 20 382.641 - - 4 1 1 XBP1|CCDS13847.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XBP1|CCDS13847.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 3 6 8 21 19 21 19 6 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754341909 22 30437137 G GA 300 PASS AC003681.2 ENST00000504478 r.? - - Ins intronic I 30437137 30437140 1 12 270.305 - - 2 1 1 AC003681.2|ENST00000504478|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC003681.2|ENST00000504478|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 2 4 4 15 19 15 19 4 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754343522 22 34996060 TAGG T 1227 PASS - - - - - Del - D 34996060 34996066 3 144 1202.59 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 11 11 14 11 27 28 27 28 14 11 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754347077 22 46227264 AT A 300 PASS ATXN10 CCDS14070.1 r.? - - Del intronic D 46227264 46227269 1 12 272.713 - - 4 1 1 ATXN10|CCDS14070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATXN10|CCDS14070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 13 4 13 0 0 ./. 3 2 3 2 17 15 17 15 3 2 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754347942 22 49188151 TG T 300 PASS FAM19A5 ENST00000336769 r.? - - Del intronic D 49188151 49188153 1 12 273.315 - - 1 1 - FAM19A5|ENST00000336769|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM19A5|ENST00000336769|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 2 3 5 6 18 12 18 12 5 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754348404 22 50732771 C CA 420 PASS PLXNB2 CCDS43035.1 r.? - - Ins intronic I 50732771 50732774 1 20 378.426 - - 2 1 1 PLXNB2|CCDS43035.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PLXNB2|CCDS43035.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 12 5 12 0 0 ./. 4 3 5 5 18 12 18 14 5 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754352470 3 11983663 G GA 596 PASS - - - - - Ins - I 11983663 11983669 1 40 586.951 - - 5 1 1 - - ./. 0 0 0 0 21 4 21 4 0 0 ./. 4 7 5 8 18 23 18 23 5 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754354283 3 19426666 T TA 480 PASS KCNH8 CCDS2632.1 r.? - - Ins intronic I 19426666 19426670 1 21 426.874 - - 3 1 1 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 10 20 10 0 0 ./. 2 6 5 7 16 23 16 23 5 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754358301 3 34218232 GACAA G 358 PASS - - - - - Del - D 34218232 34218240 4 20 377.729 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 4 4 4 18 21 18 21 4 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754360469 3 43359189 CAGG CT 596 PASS SNRK CCDS43075.1 r.? - - Complex intronic DI 43359190 43359192 3 40 0 - - 0 1 1 SNRK|CCDS43075.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 SNRK|CCDS43075.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 9 3 0 0 22 11 22 11 9 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754374645 3 94990965 AT A 540 PASS - - - - - Del - D 94990965 94990975 1 30 485.651 - - 9 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 5 4 8 7 17 22 17 22 8 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754375147 3 96729486 T TA 300 PASS EPHA6 CCDS46876.1 r.? - - Ins intronic I 96729486 96729494 1 10 266.796 - - 7 1 1 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 8 5 8 0 0 ./. 1 4 4 7 13 19 13 19 4 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754377207 3 103780526 A AT 600 PASS - - - - - Ins - I 103780526 103780529 1 36 533.592 - - 2 1 1 - - ./. 0 0 0 0 10 10 11 10 0 0 ./. 5 5 6 6 21 25 22 25 6 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754378671 3 108790883 CA C 480 PASS MORC1 CCDS2955.1 r.? - - Del intronic D 108790883 108790889 1 25 431.69 - - 5 1 1 MORC1|CCDS2955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MORC1|CCDS2955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 4 5 6 18 17 18 17 5 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754380071 3 113433888 TTTG T 360 PASS NAA50 CCDS2975.1 r.? - - Del downstream D 113433888 113433903 3 16 323.768 - - 4 1 1 NAA50|CCDS2975.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NAA50|CCDS2975.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 3 4 5 17 20 17 20 4 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754387660 3 142571280 AATAAT A 296 PASS PCOLCE2 CCDS3127.1 r.? - - Del intronic D 142571280 142571290 5 14 369.3 - - 1 1 1 PCOLCE2|CCDS3127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCOLCE2|CCDS3127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 1 6 1 8 4 26 4 26 1 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754388535 3 145526439 C CA 360 PASS - - - - - Ins - I 145526439 145526447 1 16 318.951 - - 7 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 3 3 5 4 22 12 22 12 5 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754402669 3 194728429 ACAGCGAGGTCCT A 319 PASS - - - - - Del - D 194728429 194728444 12 40 593.574 - - 1 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 4 7 4 8 19 25 19 25 4 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754409281 4 19348856 AT A 840 PASS - - - - - Del - D 19348856 19348858 1 60 754.902 - - 1 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 9 5 10 8 24 13 24 13 10 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754413118 4 32087957 CA C 420 PASS - - - - - Del - D 32087957 32087963 1 20 376.849 - - 5 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 3 4 4 4 11 12 11 12 4 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754413244 4 32460342 GAAAC G 389 PASS - - - - - Del - D 32460342 32460354 4 20 364.206 - - 2 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 3 5 4 15 19 15 19 5 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754415834 4 40696216 GA G 660 PASS - - - - - Del - D 40696216 40696218 1 40 592.535 - - 1 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 7 6 9 21 18 21 18 6 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754418388 4 49193631 AAGTT A 293 PASS - - - - - Del - D 49193631 49193636 4 10 485.294 - - 1 1 1 - - ./. 0 0 0 0 31 17 31 17 0 0 ./. 9 0 10 0 32 31 32 31 10 0 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754423619 4 68273563 CT C 577 PASS - - - - - Del - D 68273563 68273570 1 32 539.216 - - 6 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 3 7 7 9 20 20 20 20 7 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754427801 4 82637326 GA G 420 PASS - - - - - Del - D 82637326 82637329 1 20 377.451 - - 2 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 3 4 4 19 22 19 22 4 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754442801 4 137669154 G GT 420 PASS - - - - - Ins - I 137669154 137669161 1 20 373.237 - - 6 1 1 - - ./. 0 0 0 0 12 7 13 8 0 0 ./. 3 4 6 4 14 15 14 15 6 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754445637 4 148293772 ATTAT A 509 PASS - - - - - Del - D 148293772 148293785 4 18 485.294 - - 3 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 8 4 11 10 26 10 26 4 11 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754448988 4 158860029 CGT C 300 PASS - - - - - Del - D 158860029 158860048 2 12 267.802 - - 9 1 - - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 3 3 29 25 29 25 3 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754455454 4 177232973 C CT 300 PASS - - - - - Ins - I 177232973 177232975 1 10 266.598 - - 1 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 1 4 12 13 29 29 29 29 12 13 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754455635 4 177646863 C CA 1140 PASS VEGFC ENST00000280193 r.? - - Ins intronic I 177646863 177646869 1 98 1013.07 - - 5 1 1 VEGFC|ENST00000280193|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VEGFC|ENST00000280193|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 13 8 0 0 ./. 13 6 18 9 28 18 28 19 18 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754459445 4 186952649 AAG A 300 PASS - - - - - Del - D 186952649 186952665 2 12 268.404 - - 7 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 2 3 2 36 25 36 25 3 2 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754472060 5 31494792 CA C 360 PASS RNASEN CCDS47195.1 r.? - - Del intronic D 31494792 31494802 1 15 324.042 - - 9 1 1 RNASEN|CCDS47195.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNASEN|CCDS47195.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 6 15 6 0 0 ./. 4 2 6 2 23 17 23 17 6 2 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754486450 5 85850545 C CTA 300 PASS - - - - - Ins - I 85850545 85850558 2 12 264.014 - - 6 1 - - - ./. 0 0 0 0 14 5 14 5 0 0 ./. 2 3 2 6 15 9 15 9 2 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754489895 5 100898618 GA G 480 PASS - - - - - Del - D 100898618 100898622 1 16 432.056 - - 3 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 7 1 10 5 23 11 23 11 10 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754494334 5 117715168 AT A 420 PASS - - - - - Del - D 117715168 117715171 1 20 375.039 - - 2 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 3 4 6 12 17 12 17 4 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754500364 5 141153668 TA T 300 PASS - - - - - Del - D 141153668 141153670 1 6 270.035 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 0 9 2 20 11 20 11 9 2 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754504867 5 157781890 TG T 360 PASS - - - - - Del - D 157781890 157781892 1 12 315.613 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 1 5 7 10 12 21 12 21 7 10 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754505037 5 158515092 GT G 300 PASS EBF1 CCDS4343.1 r.? - - Del intronic D 158515092 158515095 1 12 270.035 - - 2 1 1 EBF1|CCDS4343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EBF1|CCDS4343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 2 3 7 5 17 17 17 17 7 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754507901 5 167928394 CT C 660 PASS RARS CCDS4367.1 r.? - - Del intronic D 167928394 167928403 1 36 594.077 - - 8 1 1 RARS|CCDS4367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RARS|CCDS4367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 20 9 20 0 0 ./. 8 3 12 4 28 27 28 27 12 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754510409 5 175581330 TG T 420 PASS - - - - - Del - D 175581330 175581336 1 20 378.049 - - 5 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 3 4 5 5 28 20 28 20 5 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754513125 6 1812024 ATTCTTTGAGTAAG A 290 PASS GMDS CCDS4474.1 r.? - - Del intronic D 1812024 1812040 13 32 540.117 - - 1 1 1 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 7 3 8 12 14 12 14 3 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754513540 6 2999958 TGGGCGCGGAC T 290 PASS NQO2 CCDS4481.1 r.? - - Del upstream D 2999958 2999978 10 20 534.698 - - 1 1 - NQO2|CCDS4481.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 NQO2|ENST00000380472|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 1 9 1 10 7 16 7 16 1 11 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754522852 6 30151446 T TA 360 PASS TRIM26 CCDS4678.1 r.? - - Ins downstream I 30151446 30151453 1 16 319.253 - - 6 1 1 TRIM26|CCDS4678.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TRIM26|CCDS4678.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 3 6 4 16 9 17 10 6 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754529741 6 50790704 GTAGTTA G 464 PASS TFAP2B CCDS4934.2 r.? - - Del intronic D 50790704 50790711 6 81 864.187 - - 1 1 1 TFAP2B|CCDS4934.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TFAP2B|CCDS4934.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 8 8 10 9 21 23 21 23 10 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754537548 6 78091486 AATAT A 540 PASS - - - - - Del - D 78091486 78091494 4 24 486.105 - - 3 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 7 2 7 3 21 13 21 13 7 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754540727 6 90560838 ACT A 540 PASS CASP8AP2 ENST00000455594 r.? - - Del intronic D 90560838 90560843 2 28 486.105 - - 2 1 1 CASP8AP2|ENST00000455594|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CASP8AP2|ENST00000455594|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 6 15 6 0 0 ./. 3 6 6 7 13 12 13 12 6 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754545968 6 110086885 TA T 480 PASS FIG4 CCDS5078.1 r.? - - Del intronic D 110086885 110086892 1 24 432.093 - - 6 1 1 FIG4|CCDS5078.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FIG4|CCDS5078.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 6 5 6 0 0 ./. 5 3 6 5 22 17 22 17 6 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754552320 6 134711449 CAATT C 718 PASS - - - - - Del - D 134711449 134711456 4 50 700.948 - - 1 1 1 - - ./. 0 0 0 0 16 23 16 23 0 0 ./. 9 4 11 5 22 18 22 18 11 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754553318 6 138473541 GT G 540 PASS - - - - - Del - D 138473541 138473546 1 30 486.105 - - 4 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 5 6 8 15 19 15 19 6 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754556308 6 151185391 T TA 660 PASS MTHFD1L CCDS5228.1 r.? - - Ins upstream I 151185391 151185398 1 40 587.506 - - 6 1 1 MTHFD1L|CCDS5228.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 MTHFD1L|CCDS5228.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 14 12 14 12 0 0 ./. 7 4 12 6 29 18 29 18 12 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754562187 6 170892632 C CTA 840 PASS PDCD2 CCDS5316.1 r.515_516insua c.486_487insTA p.D163fs*1 Ins frameshift I 170892632 170892635 2 63 739.306 - - 1 1 1 PDCD2|CCDS5316.1|r.515_516insua|c.486_487insTA|p.D163fs*1|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 PDCD2|CCDS5316.1|r.515_516insua|c.486_487insTA|p.D163fs*1|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 10 5 10 5 0 0 ./. 6 8 6 8 15 18 15 18 6 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754573915 7 38614300 CTTCTA C 327 PASS AMPH CCDS5456.1 r.? - - Del intronic D 38614300 38614313 5 14 378.201 - - 2 1 1 AMPH|CCDS5456.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AMPH|CCDS5456.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 24 7 24 0 0 ./. 1 6 2 7 15 24 15 24 2 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754584346 7 72211944 AG A 629 PASS - - - - - Del - D 72211944 72211947 1 40 593.714 - - 2 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 7 9 8 21 22 21 22 9 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754585648 7 76793761 CAT C 277 PASS CCDC146 CCDS34671.1 r.? - - Del intronic D 76793761 76793764 2 10 270.144 - - 1 1 1 CCDC146|CCDS34671.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCDC146|CCDS34671.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 1 5 2 15 8 15 8 5 2 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754590587 7 95067947 TTGG T 509 PASS PON2 CCDS5640.1 r.? - - Del upstream D 95067947 95067952 3 18 486.258 - - 1 1 1 PON2|CCDS5640.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PON2|CCDS5640.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 15 11 15 0 0 ./. 1 8 4 10 16 23 16 23 4 10 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754590611 7 95159224 CACTCATTTGTTTATTTAACAAATAT C 261 PASS ASB4 CCDS5641.1 r.? - - Del intronic D 95159224 95159250 25 30 486.258 - - 1 1 1 ASB4|CCDS5641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASB4|CCDS5641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 5 4 4 4 12 14 13 14 5 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754596917 7 118896827 TA T 720 PASS - - - - - Del - D 118896827 118896831 1 48 648.345 - - 3 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 7 5 7 7 18 19 18 19 7 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754597884 7 123109213 A AT 300 PASS IQUB CCDS5787.1 r.? - - Ins intronic I 123109213 123109223 1 12 267.133 - - 9 1 1 IQUB|CCDS5787.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IQUB|CCDS5787.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 14 12 0 0 ./. 2 3 3 3 24 18 24 18 3 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754604584 7 145173058 AT A 360 PASS - - - - - Del - D 145173058 145173064 1 15 324.172 - - 5 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 2 4 3 8 9 8 9 4 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754610727 8 4735459 AC A 360 PASS - - - - - Del - D 4735459 4735463 1 12 324.337 - - 3 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 5 2 10 11 18 11 18 2 10 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754612412 8 9934429 G GA 540 PASS MSRA CCDS5975.1 r.? - - Ins intronic I 9934429 9934439 1 30 479.883 - - 9 1 1 MSRA|CCDS5975.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MSRA|CCDS5975.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 4 7 4 15 13 15 13 7 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754613726 8 13990481 GAGA G 509 PASS SGCZ CCDS5992.2 r.? - - Del intronic D 13990481 13990488 3 24 486.506 - - 2 1 1 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 22 18 22 0 0 ./. 2 7 3 7 17 30 17 30 3 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754622521 8 47485649 CA C 674 PASS - - - - - Del - D 47485649 47485654 1 40 646.266 - - 4 1 1 - - ./. 0 0 0 0 15 5 15 5 0 0 ./. 3 9 4 10 17 19 17 19 4 10 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754625782 8 59250417 G GA 300 PASS - - - - - Ins - I 59250417 59250427 1 10 267.271 - - 9 1 1 - - ./. 0 0 0 0 20 20 21 20 0 0 ./. 1 4 1 4 32 30 33 30 1 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754626640 8 62055330 CACCTTCTGTAATGCCAGGAG C 493 PASS - - - - - Del - D 62055330 62055351 20 88 916.548 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 10 7 10 7 26 21 26 21 10 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754630697 8 75758810 AAT A 720 PASS PI15 CCDS6218.1 r.? - - Del intronic D 75758810 75758815 2 49 648.675 - - 2 1 1 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 23 10 23 0 0 ./. 6 6 13 14 22 26 22 26 13 14 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754633537 8 85013214 GTA G 300 PASS - - - - - Del - D 85013214 85013230 2 12 269.679 - - 7 1 - - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 3 3 22 33 22 33 3 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754634915 8 89667774 GCT G 300 PASS - - - - - Del - D 89667774 89667777 2 10 269.077 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 4 3 5 14 18 14 18 3 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754637039 8 96973300 ACACAATACTTTTCAAACTATGATGTTGGCT A 261 PASS - - - - - Del - D 96973300 96973331 30 30 486.506 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 4 4 4 24 22 26 22 6 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754637965 8 100122907 G GT 360 PASS VPS13B CCDS6280.1 r.? - - Ins intronic I 100122907 100122916 1 15 320.725 - - 8 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 2 6 3 24 16 24 17 6 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754639081 8 103841463 CAAATATCCCATCTGCCTTA C 348 PASS AZIN1 CCDS6295.1 r.? - - Del intronic D 103841463 103841488 19 49 648.675 - - 1 1 1 AZIN1|CCDS6295.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AZIN1|CCDS6295.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 6 6 6 6 25 29 25 29 6 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754643126 8 118120281 TTATCAA T 307 PASS SLC30A8 CCDS6322.1 r.? - - Del intronic D 118120281 118120293 6 42 594.618 - - 1 1 1 SLC30A8|CCDS6322.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC30A8|CCDS6322.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 6 5 10 5 33 24 33 24 10 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754644133 8 120941801 TATG T 300 PASS DEPDC6 CCDS6331.1 r.? - - Del intronic D 120941801 120941830 3 10 270.281 - - 9 1 - DEPDC6|CCDS6331.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DEPDC6|CCDS6331.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 20 23 20 0 0 ./. 4 1 4 1 21 16 21 16 4 1 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754647118 8 130635176 A AT 660 PASS AC013300.1 ENST00000446592 r.? - - Ins intronic I 130635176 130635178 1 42 587.996 - - 1 1 1 AC013300.1|ENST00000446592|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC013300.1|ENST00000446592|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 20 11 20 0 0 ./. 5 6 7 7 22 18 22 18 7 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754652536 9 2384415 C CT 389 PASS - - - - - Ins - I 2384415 2384425 1 20 375.015 - - 9 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 3 5 5 17 15 17 15 5 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754654244 9 8399834 GA G 840 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 8399834 8399836 1 63 757.856 - - 1 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 6 8 8 9 17 21 17 21 8 9 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754659936 9 28513177 C CA 300 PASS LINGO2 CCDS6524.1 r.? - - Ins intronic I 28513177 28513185 1 12 267.868 - - 7 1 1 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 16 7 0 0 ./. 3 2 4 2 23 15 23 15 4 2 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754677323 9 112125411 CT C 420 PASS - - - - - Del - D 112125411 112125413 1 20 375.015 - - 1 1 1 - - ./. 0 0 0 0 7 20 7 20 0 0 ./. 3 4 4 5 11 21 11 21 4 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754677661 9 113219981 T TA 480 PASS SVEP1 CCDS48004.1 r.? - - Ins intronic I 113219981 113219987 1 25 428.588 - - 5 1 1 SVEP1|CCDS48004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SVEP1|CCDS48004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 4 4 5 15 16 15 17 4 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754679086 9 117707201 TGAAAA T 534 PASS - - - - - Del - D 117707201 117707208 5 48 648.301 - - 1 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 7 5 8 5 18 25 18 25 8 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754682070 9 128025802 CTGTTGTTTTTTTTTTTTTGGTTGTAAGTTTATTCAATGCAAAAGAAT C 348 PASS GAPVD1 CCDS35138.1 r.? - - Del intronic D 128025802 128025850 47 45 649.505 - - 1 1 1 GAPVD1|CCDS35138.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GAPVD1|CCDS35138.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 8 4 2 1 20 9 26 12 8 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754684674 9 136325835 TG T 480 PASS ADAMTS13 CCDS6970.1 r.? - - Del downstream D 136325835 136325839 1 16 426.18 - - 3 1 1 ADAMTS13|CCDS6970.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C9orf7|CCDS6974.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 1 11 1 21 8 21 8 11 1 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754685825 9 140899239 C CA 300 PASS CACNA1B ENST00000371372 r.? - - Ins intronic I 140899239 140899248 1 6 267.868 - - 8 1 1 CACNA1B|ENST00000371372|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACNA1B|ENST00000371372|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 9 10 0 0 ./. 5 0 7 2 27 9 29 9 7 2 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754690554 X 24392259 CT C 480 PASS - - - - - Del - D 24392259 24392261 1 21 432.382 - - 1 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 2 6 2 6 18 17 18 17 2 6 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754690788 X 25674151 AT A 600 PASS - - - - - Del - D 25674151 25674158 1 35 541.983 - - 6 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 6 4 11 7 21 20 21 20 11 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754690953 X 26806874 CT C 600 PASS - - - - - Del - D 26806874 26806881 1 35 541.983 - - 6 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 6 4 7 7 19 18 19 18 7 7 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754695348 X 47820699 G GT 420 PASS ZNF81 ENST00000376950 r.? - - Ins intronic I 47820699 47820709 1 20 375.174 - - 9 1 1 ZNF81|ENST00000376950|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF81|ENST00000376950|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 4 4 5 15 14 15 14 4 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754698779 X 71189113 CT C 600 PASS - - - - - Del - D 71189113 71189123 1 36 541.983 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 5 6 13 19 26 19 26 6 13 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754701162 X 83009283 AG A 283 PASS - - - - - Del - D 83009283 83009285 1 32 541.983 - - 1 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 7 3 6 4 16 10 18 10 8 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754702689 X 88976051 GT G 535 PASS - - - - - Del - D 88976051 88976059 1 64 758.777 - - 7 1 - - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 7 7 7 8 21 15 21 15 7 8 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754703648 X 93742707 C CAA 600 PASS - - - - - Ins - I 93742707 93742710 2 35 529.942 - - 2 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 6 4 7 4 14 10 14 10 7 4 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754704370 X 97430524 CAG C 300 PASS - - - - - Del - D 97430524 97430541 2 6 270.992 - - 8 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 5 0 4 0 24 18 24 18 5 0 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754707270 X 114117274 AT A 420 PASS HTR2C CCDS14564.1 r.? - - Del intronic D 114117274 114117276 1 18 379.388 - - 1 1 1 HTR2C|CCDS14564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HTR2C|CCDS14564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 5 3 5 12 13 12 13 3 5 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754712060 X 136914437 GTA G 300 PASS - - - - - Del - D 136914437 136914451 2 12 266.175 - - 6 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 3 3 3 22 22 22 22 3 3 1 1 1 1 1 1 1 1 2772522 PD7314a PD7314b 2754714012 X 145925751 TC T 840 PASS - - - - - Del - D 145925751 145925754 1 64 758.174 - - 2 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 7 7 8 8 21 21 21 21 8 8 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757886439 1 82294267 AT A 509 PASS LPHN2 CCDS689.1 r.? - - Del intronic D 82294267 82294273 1 28 480.242 - - 5 1 1 LPHN2|CCDS689.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPHN2|CCDS689.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 6 3 8 17 29 17 29 3 8 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757893569 1 105230949 T TA 480 PASS - - - - - Ins - I 105230949 105230951 1 24 425.276 - - 1 1 1 - - ./. 0 0 0 0 11 9 12 9 0 0 ./. 5 3 8 6 30 25 34 25 8 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757899632 1 143275379 A AT 250 PASS - - - - - Ins - I 143275379 143275380 1 11 531.595 - - 0 1 1 - - ./. 0 0 0 0 65 57 65 57 0 0 ./. 0 10 0 13 99 93 99 93 0 13 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757904968 1 157032506 A AT 360 PASS - - - - - Ins - I 157032506 157032514 1 15 318.957 - - 7 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 2 12 3 36 19 37 19 12 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757907329 1 164632546 CCT C 360 PASS PBX1 CCDS1246.1 r.? - - Del intronic D 164632546 164632565 2 12 321.967 - - 9 1 1 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 1 6 1 26 17 26 17 6 1 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757908849 1 169081104 C CT 720 PASS ATP1B1 CCDS1276.1 r.? - - Ins intronic I 169081104 169081106 1 48 636.108 - - 1 1 1 ATP1B1|CCDS1276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP1B1|CCDS1276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 7 5 10 5 24 17 24 17 10 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757916086 1 192411688 A AAT 360 PASS - - - - - Ins - I 192411688 192411701 2 16 315.345 - - 6 1 1 - - ./. 0 0 0 0 11 21 11 22 0 0 ./. 3 3 5 4 16 23 17 23 5 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757916925 1 194741106 TTTC T 480 PASS - - - - - Del - D 194741106 194741120 3 24 429.491 - - 4 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 5 3 7 5 27 23 27 23 7 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757921293 1 207927469 CAAAT C 480 PASS CD46 CCDS1485.1 r.? - - Del intronic D 207927469 207927478 4 21 430.093 - - 2 1 1 CD46|CCDS1485.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD46|CCDS1485.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 2 8 3 21 28 21 28 8 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757928001 1 227924643 ATGGAGT A 319 PASS JMJD4 CCDS1561.1 r.? - - Del upstream D 227924643 227924651 6 36 591.378 - - 1 1 1 JMJD4|CCDS1561.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SNAP47|CCDS1562.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 8 3 8 3 20 31 20 31 8 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757929012 1 231201246 AG A 269 PASS - - - - - Del - D 231201246 231201248 1 6 260.379 - - 1 1 - - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 5 0 6 0 22 25 22 25 6 0 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757929268 1 231865740 T TA 420 PASS DISC1 CCDS31055.1 r.? - - Ins intronic I 231865740 231865748 1 18 372.117 - - 7 1 1 DISC1|CCDS31055.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DISC1|CCDS31055.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 5 3 6 24 30 24 30 3 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757942205 10 16064716 CTT C 420 PASS - - - - - Del - D 16064716 16064720 2 20 377.672 - - 3 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 3 7 6 22 20 22 20 7 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757944479 10 23747920 AAAC A 507 PASS - - - - - Del - D 23747920 23747926 3 35 539.531 - - 1 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 4 6 7 6 22 18 22 18 7 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757945315 10 26211007 GT G 540 PASS - - - - - Del - D 26211007 26211016 1 30 485.578 - - 8 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 5 5 6 21 19 21 19 5 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757949482 10 37718955 ATGTT A 480 PASS - - - - - Del - D 37718955 37718965 4 24 431.625 - - 2 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 3 7 3 25 23 25 23 7 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757952033 10 45203735 G GA 300 PASS - - - - - Ins - I 45203735 45203745 1 12 266.755 - - 9 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 3 2 3 21 29 22 29 2 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757953762 10 53740189 GTGGTGATGAGAAGAATGTATAGTCTGTTATTT G 290 PASS PRKG1 CCDS7244.1 r.? - - Del intronic D 53740189 53740225 32 32 539.531 - - 1 1 1 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 8 20 8 0 0 ./. 7 3 6 2 21 13 22 14 7 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757957330 10 64263395 GCCAGCTCTCTTCTCATCAA G 290 PASS ZNF365 CCDS7264.1 r.? - - Del intronic D 64263395 64263419 19 32 539.531 - - 1 1 1 ZNF365|CCDS7264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF365|CCDS7264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 7 3 7 20 22 20 22 3 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757984199 11 11469392 TG T 540 PASS GALNTL4 CCDS7807.1 r.? - - Del intronic D 11469392 11469396 1 30 485.077 - - 3 1 1 GALNTL4|CCDS7807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNTL4|CCDS7807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 5 4 6 16 17 16 17 4 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757985565 11 16022287 C CGT 360 PASS SOX6 CCDS7821.1 r.? - - Ins intronic I 16022287 16022301 2 16 316.361 - - 6 1 - SOX6|CCDS7821.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SOX6|CCDS7821.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 3 3 4 12 23 12 26 3 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757986114 11 17836246 GT G 360 PASS SERGEF CCDS7828.1 r.? - - Del intronic D 17836246 17836248 1 15 324.188 - - 1 1 1 SERGEF|CCDS7828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SERGEF|CCDS7828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 2 4 3 20 20 20 20 4 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757999738 11 63552575 GAACTTCAAGAACTGTGGGAAATTATGAAAGCTGTAACAACGTGTACTGAGAATAGCAGAAGGAGAAGAAAAAGAGAAAGTAACA G 261 PASS - - - - - Del - D 63552575 63552662 84 24 486.281 - - 1 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 2 7 0 0 18 19 20 26 2 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2757999976 11 64301414 GA G 720 PASS - - - - - Del - D 64301414 64301421 1 49 647.773 - - 6 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 6 8 8 31 23 31 23 8 8 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758000062 11 64635209 C CA 420 PASS EHD1 CCDS8084.1 r.? - - Ins intronic I 64635209 64635218 1 18 374.004 - - 8 1 1 EHD1|CCDS8084.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EHD1|CCDS8084.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 12 0 0 ./. 2 5 7 7 14 32 17 32 7 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758002842 11 73289703 AAATACCC A 319 PASS FAM168A CCDS41689.1 r.? - - Del intronic D 73289703 73289713 7 40 593.14 - - 1 1 1 FAM168A|CCDS41689.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM168A|CCDS41689.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 24 7 24 0 0 ./. 4 7 4 8 14 33 14 33 4 8 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758006810 11 86721998 GA G 420 PASS - - - - - Del - D 86721998 86722002 1 20 377.617 - - 3 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 3 5 6 23 21 23 21 5 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758007456 11 88483030 AT A 300 PASS GRM5 CCDS44694.1 r.? - - Del intronic D 88483030 88483040 1 10 270.156 - - 9 1 1 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 21 20 21 0 0 ./. 1 4 1 5 18 31 18 31 1 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758011285 11 100995744 GAAAC G 540 PASS PGR CCDS8310.1 r.? - - Del intronic D 100995744 100995764 4 30 486.281 - - 4 1 1 PGR|CCDS8310.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PGR|CCDS8310.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 4 5 4 26 12 26 12 5 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758012911 11 105461504 CA C 600 PASS - - - - - Del - D 105461504 105461509 1 36 540.313 - - 4 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 5 4 8 19 20 19 20 5 8 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758030086 12 21402196 CACATT C 474 PASS - - - - - Del - D 21402196 21402205 5 40 594.395 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 7 5 8 23 20 23 20 5 8 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758030700 12 23532992 AAAAATTCCTAAATCTGATAAATCCTGAATCAGTAAAGTTTCAGGATACAAAATAATGCATGAAAATTAGTTGCATTTCTATACATCAACAATGTTCAAGCTGAGAACTAAATCAAGTACTTATTCCCATTTACAATAGCCTAAAATATTAAAATACCTAGAAATATATTTAACTAGGGAGGTGAAAGACTTCTATAAGGAGAACTACAAAACACTGATGAAGCAAATTGTAGATGACATGAACAAACAGATAAGC A 290 PASS - - - - - Del - D 23532992 23533249 255 35 540.359 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 4 0 0 19 11 25 15 6 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758045205 12 70529436 GA G 480 PASS - - - - - Del - D 70529436 70529444 1 24 432.287 - - 7 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 5 4 7 30 25 30 25 4 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758056239 12 107237805 AC A 629 PASS RIC8B CCDS9109.2 r.? - - Del intronic D 107237805 107237807 1 42 593.792 - - 1 1 1 RIC8B|CCDS9109.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIC8B|CCDS9109.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 6 6 9 21 25 21 25 6 9 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758060067 12 118964692 GC G 420 PASS - - - - - Del - D 118964692 118964695 1 20 378.251 - - 2 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 3 6 5 23 20 23 20 6 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758069626 13 27664789 ATCT A 567 PASS USP12 CCDS31952.1 r.? - - Del intronic D 27664789 27664797 3 36 595.827 - - 2 1 1 USP12|CCDS31952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP12|CCDS31952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 8 5 9 22 24 22 24 5 9 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758074593 13 42366686 GT G 360 PASS KIAA0564 CCDS41881.1 r.? - - Del intronic D 42366686 42366688 1 12 324.996 - - 1 1 1 KIAA0564|CCDS41881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0564|CCDS41881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 1 5 1 8 11 26 11 26 1 8 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758089380 13 87960822 A AT 420 PASS - - - - - Ins - I 87960822 87960830 1 20 374.948 - - 7 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 3 6 5 27 30 27 30 6 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758097582 13 113182188 GTC G 540 PASS TUBGCP3 CCDS9525.1 r.? - - Del intronic D 113182188 113182196 2 18 487.494 - - 3 1 1 TUBGCP3|CCDS9525.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TUBGCP3|CCDS9525.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 8 1 9 3 26 22 26 22 9 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758100905 14 27692672 AC A 300 PASS - - - - - Del - D 27692672 27692674 1 12 271.089 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 2 4 3 25 26 25 26 4 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758113515 14 67730266 CTT C 420 PASS MPP5 CCDS9779.1 r.? - - Del intronic D 67730266 67730269 2 18 379.525 - - 2 1 1 MPP5|CCDS9779.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MPP5|CCDS9779.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 5 2 5 4 26 19 26 19 5 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758118674 14 83120305 C CT 720 PASS - - - - - Ins - I 83120305 83120308 1 49 642.186 - - 2 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 6 6 7 6 24 16 24 17 7 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758127308 15 20571234 TA T 480 PASS - - - - - Del - D 20571234 20571236 1 24 433.943 - - 1 1 1 - - ./. 0 0 0 0 39 31 39 31 0 0 ./. 3 5 5 7 63 44 63 44 5 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758129513 15 27013948 AT A 300 PASS GABRB3 CCDS10019.1 r.? - - Del intronic D 27013948 27013954 1 12 271.214 - - 5 1 1 GABRB3|CCDS10019.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GABRB3|CCDS10019.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 2 3 2 33 24 33 24 3 2 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758133313 15 38913241 ACT A 300 PASS - - - - - Del - D 38913241 38913257 2 12 270.01 - - 7 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 3 2 27 22 27 22 3 2 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758136892 15 50544038 A AG 300 PASS HDC CCDS10134.1 r.? - - Ins intronic I 50544038 50544039 1 10 263.99 - - 0 1 1 HDC|CCDS10134.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HDC|CCDS10134.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 1 7 1 28 19 30 19 7 1 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758145006 15 73890774 T TA 300 PASS NPTN CCDS10249.1 r.? - - Ins intronic I 73890774 73890776 1 12 268.204 - - 1 1 1 NPTN|CCDS10249.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NPTN|CCDS10249.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 2 3 5 4 18 21 19 21 5 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758146873 15 79531829 AACCAGGCTGGAGTCTGGAGC A 261 PASS - - - - - Del - D 79531829 79531855 20 30 486.982 - - 1 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 5 2 4 16 21 18 22 4 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758151250 15 93541358 TA T 480 PASS CHD2 CCDS10374.2 r.? - - Del intronic D 93541358 93541363 1 24 433.943 - - 4 1 1 CHD2|CCDS10374.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHD2|CCDS10374.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 5 3 7 5 25 29 25 29 7 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758159808 16 12418289 G GT 360 PASS SNX29 CCDS45416.1 r.? - - Ins intronic I 12418289 12418296 1 7 320.338 - - 6 1 - SNX29|CCDS45416.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNX29|CCDS45416.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 6 0 6 1 27 23 27 24 6 1 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758165705 16 27355626 G GA 300 PASS IL4R CCDS10629.1 r.? - - Ins intronic I 27355626 27355636 1 12 267.952 - - 9 1 1 IL4R|CCDS10629.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL4R|CCDS10629.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 20 16 20 0 0 ./. 3 2 3 2 28 37 28 37 3 2 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758168949 16 33883753 GATT G 360 PASS - - - - - Del - D 33883753 33883761 3 16 325.155 - - 2 1 1 - - ./. 0 0 0 0 18 23 18 23 0 0 ./. 3 3 6 4 33 29 33 29 6 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758171978 16 53957041 C CA 420 PASS FTO CCDS32448.1 r.? - - Ins intronic I 53957041 53957049 1 20 375.133 - - 7 1 1 FTO|CCDS32448.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FTO|CCDS32448.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 4 4 6 12 25 12 25 4 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758191994 17 31120592 TCTTAAAATGATTTGGAAAAGGATGCTTTATTTTGATCTTTTGTTAACACACTGAAGCCTAGAATTAACAACTTGGAAGACAGCACTTAAGAACCACCACCACAGCCCATCAG T 261 PASS MYO1D CCDS32615.1 r.? - - Del intronic D 31120592 31120705 112 30 487.948 - - 1 1 1 MYO1D|CCDS32615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO1D|CCDS32615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 5 0 0 19 7 23 12 4 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758192180 17 31846977 GAGAGAAAACA G 319 PASS ACCN1 CCDS42296.1 r.? - - Del intronic D 31846977 31846989 10 42 596.38 - - 1 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 6 6 6 22 25 22 25 6 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758194076 17 38176113 CCACTG C 420 PASS MED24 CCDS11359.1 r.3267_3271delCAGUG c.2773_2777delCAGTG p.Q925fs*58 Del frameshift D 38176113 38176122 5 20 379.515 - - 1 1 1 MED24|CCDS11359.1|r.3267_3271delCAGUG|c.2773_2777delCAGTG|p.Q925fs*58|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 MED24|CCDS11359.1|r.3267_3271delCAGUG|c.2773_2777delCAGTG|p.Q925fs*58|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 3 4 4 15 12 15 12 4 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758210434 18 2551699 T TA 420 PASS METTL4 CCDS11826.1 r.? - - Ins intronic I 2551699 2551709 1 20 375.568 - - 9 1 1 METTL4|CCDS11826.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 METTL4|CCDS11826.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 4 5 6 20 19 20 19 5 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758214919 18 19887379 AAAG A 900 PASS - - - - - Del - D 19887379 19887390 3 70 812.616 - - 3 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 9 6 9 7 22 29 22 29 9 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758222630 18 46881643 A AT 660 PASS DYM CCDS11937.1 r.? - - Ins intronic I 46881643 46881645 1 36 590.179 - - 1 1 - DYM|CCDS11937.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DYM|CCDS11937.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 8 3 9 6 23 18 23 18 9 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758230801 18 70434950 T TA 540 PASS NETO1 CCDS12000.1 r.? - - Ins intronic I 70434950 70434959 1 30 482.874 - - 8 1 1 NETO1|CCDS12000.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NETO1|CCDS12000.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 17 20 17 0 0 ./. 5 4 9 8 23 31 24 31 9 8 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758234474 19 3198517 A AC 300 PASS NCLN CCDS32869.1 r.? - - Ins intronic I 3198517 3198518 1 6 268.293 - - 0 1 - NCLN|CCDS32869.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NCLN|CCDS32869.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 0 6 0 21 16 22 17 6 0 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758235635 19 6117656 G GA 360 PASS - - - - - Ins - I 6117656 6117666 1 12 321.951 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 1 5 3 7 13 28 13 28 3 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758256472 2 1166699 A AT 780 PASS SNTG2 CCDS46220.1 r.? - - Ins intronic I 1166699 1166708 1 54 691.498 - - 8 1 1 SNTG2|CCDS46220.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNTG2|CCDS46220.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 8 5 10 7 27 26 27 26 10 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758263807 2 25843897 T TA 480 PASS DTNB CCDS46237.1 r.? - - Ins intronic I 25843897 25843906 1 25 425.537 - - 8 1 1 DTNB|CCDS46237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DTNB|CCDS46237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 19 21 20 0 0 ./. 4 4 6 5 24 19 24 19 6 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758265118 2 29800046 CAG C 480 PASS ALK CCDS33172.1 r.? - - Del intronic D 29800046 29800049 2 25 430.354 - - 1 1 1 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 4 4 7 5 22 27 22 27 7 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758272956 2 54008799 AT A 480 PASS ASB3 CCDS1847.1 r.? - - Del intronic D 54008799 54008804 1 24 430.354 - - 4 1 1 ASB3|CCDS1847.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ASB3|CCDS1847.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 5 5 7 24 15 24 15 5 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758287118 2 104007504 T TA 420 PASS - - - - - Ins - I 104007504 104007506 1 20 371.743 - - 1 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 4 6 6 22 18 22 19 6 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758288099 2 107300202 TA T 480 PASS - - - - - Del - D 107300202 107300204 1 25 430.354 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 4 6 4 16 17 16 17 6 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758290124 2 114810695 GT G 300 PASS - - - - - Del - D 114810695 114810697 1 6 248.501 - - 1 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 0 7 0 23 16 23 16 7 0 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758297693 2 138617486 AAT A 420 PASS - - - - - Del - D 138617486 138617491 2 20 376.56 - - 2 1 1 - - ./. 0 0 0 0 11 23 11 23 0 0 ./. 4 3 6 6 19 21 19 21 6 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758302700 2 154902787 CT C 300 PASS GALNT13 CCDS2199.1 r.? - - Del intronic D 154902787 154902789 1 12 268.971 - - 1 1 1 GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 3 2 3 19 22 19 22 2 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758304891 2 162270365 ACT A 569 PASS TBR1 CCDS33310.1 r.? - - Del upstream D 162270365 162270370 2 32 535.534 - - 2 1 1 TBR1|CCDS33310.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TBR1|CCDS33310.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 12 15 12 0 0 ./. 7 3 8 4 20 22 20 22 8 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758304978 2 162562271 TTTG T 658 PASS SLC4A10 CCDS46438.1 r.? - - Del intronic D 162562271 162562282 3 49 644.929 - - 3 1 1 SLC4A10|CCDS46438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC4A10|CCDS46438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 6 6 7 9 28 34 28 34 7 9 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758306753 2 169697060 AAC A 269 PASS NOSTRIN CCDS42771.1 r.? - - Del intronic D 169697060 169697064 2 6 262.348 - - 1 1 - NOSTRIN|CCDS42771.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOSTRIN|CCDS42771.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 0 5 0 32 9 32 9 5 0 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758309888 2 178834612 GA G 420 PASS PDE11A CCDS42786.1 r.? - - Del intronic D 178834612 178834616 1 18 376.56 - - 3 1 1 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 5 3 6 18 23 18 23 3 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758312367 2 187741930 G GT 480 PASS - - - - - Ins - I 187741930 187741939 1 24 425.537 - - 8 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 5 3 6 4 28 27 28 27 6 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758337417 20 22163343 GTTTC G 540 PASS - - - - - Del - D 22163343 22163355 4 28 488.731 - - 2 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 3 6 4 9 24 28 24 28 4 9 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758339405 20 29485394 CTCTA C 298 PASS - - - - - Del - D 29485394 29485404 4 7 325.82 - - 2 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 6 0 8 0 23 18 23 18 8 0 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758344685 20 42540334 C CA 300 PASS TOX2 CCDS13324.1 r.? - - Ins upstream I 42540334 42540344 1 10 267.905 - - 9 1 1 TOX2|CCDS13324.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TOX2|CCDS13324.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 1 4 2 34 19 34 20 4 2 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758368507 21 47790697 TC T 540 PASS PCNT CCDS33592.1 r.? - - Del intronic D 47790697 47790701 1 30 488.133 - - 3 1 1 PCNT|CCDS33592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCNT|CCDS33592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 6 17 6 0 0 ./. 5 4 9 6 19 17 19 17 9 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758379285 3 1150107 AC A 360 PASS CNTN6 CCDS2557.1 r.? - - Del intronic D 1150107 1150109 1 12 323.334 - - 1 1 1 CNTN6|CCDS2557.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CNTN6|CCDS2557.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 7 18 7 0 0 ./. 5 1 5 2 18 17 18 17 5 2 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758392352 3 42223805 TTC T 269 PASS TRAK1 CCDS43072.1 r.? - - Del intronic D 42223805 42223809 2 6 257.404 - - 1 1 - TRAK1|CCDS43072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAK1|CCDS43072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 5 0 7 0 21 23 21 23 7 0 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758402222 3 74529982 TATTG T 689 PASS CNTN3 CCDS33790.1 r.? - - Del intronic D 74529982 74529990 4 33 646.668 - - 1 1 1 CNTN3|CCDS33790.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN3|CCDS33790.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 2 10 3 11 22 34 22 34 3 11 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758435909 3 187240402 GT G 300 PASS - - - - - Del - D 187240402 187240408 1 10 268.241 - - 5 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 1 4 1 18 21 18 21 4 1 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758440051 4 992410 ATCAC A 269 PASS IDUA CCDS3343.1 r.? - - Del intronic D 992410 992419 4 12 269.328 - - 2 1 1 IDUA|CCDS3343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IDUA|CCDS3343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 2 4 3 13 30 13 30 4 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758448352 4 27394682 AAC A 360 PASS - - - - - Del - D 27394682 27394688 2 15 323.194 - - 2 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 4 2 5 4 24 26 24 26 5 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758449278 4 29928108 C CA 480 PASS - - - - - Ins - I 29928108 29928115 1 21 426.109 - - 6 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 2 6 5 6 28 22 28 22 5 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758450723 4 35175519 ATAATT A 267 PASS - - - - - Del - D 35175519 35175530 5 16 323.194 - - 2 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 3 3 6 3 23 18 23 18 6 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758451036 4 36086716 CTTTA C 509 PASS ARAP2 CCDS3441.1 r.? - - Del intronic D 36086716 36086724 4 30 484.791 - - 1 1 1 ARAP2|CCDS3441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARAP2|CCDS3441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 4 7 5 22 17 22 17 7 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758462337 4 70887876 CAT C 354 PASS - - - - - Del - D 70887876 70887881 2 36 592.523 - - 2 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 8 4 10 25 28 25 28 4 10 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758469966 4 96799950 GC G 660 PASS - - - - - Del - D 96799950 96799952 1 42 592.523 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 6 9 7 31 17 31 17 9 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758471714 4 103442497 GAAATGATGA G 377 PASS NFKB1 CCDS3657.1 r.? - - Del intronic D 103442497 103442510 9 56 697.244 - - 1 1 1 NFKB1|CCDS3657.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NFKB1|CCDS3657.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 7 6 0 0 18 20 18 20 7 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758474473 4 113448927 C CT 540 PASS - - - - - Ins - I 113448927 113448934 1 28 479.373 - - 6 1 1 - - ./. 0 0 0 0 20 10 21 10 0 0 ./. 6 3 9 3 30 20 30 21 9 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758476975 4 121537945 GA G 540 PASS - - - - - Del - D 121537945 121537947 1 30 478.169 - - 1 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 5 4 6 5 19 15 19 15 6 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758477230 4 122236202 GACCT G 300 PASS - - - - - Del - D 122236202 122236209 4 12 269.328 - - 1 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 2 5 4 23 18 23 18 5 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758481496 4 136230447 AT A 600 PASS - - - - - Del - D 136230447 136230452 1 32 538.055 - - 4 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 7 3 9 15 27 15 27 3 9 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758483809 4 143767073 ACG A 660 PASS INPP4B CCDS47112.1 r.? - - Del intronic D 143767073 143767085 2 42 592.523 - - 5 1 1 INPP4B|CCDS47112.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 INPP4B|CCDS47112.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 5 6 6 7 21 22 21 22 6 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758490451 4 164175432 GC G 300 PASS - - - - - Del - D 164175432 164175435 1 12 263.308 - - 2 1 1 - - ./. 0 0 0 0 6 17 6 17 0 0 ./. 2 3 5 4 32 18 32 18 5 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758495127 4 178029004 AG A 660 PASS - - - - - Del - D 178029004 178029006 1 42 592.523 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 5 8 5 24 18 24 18 8 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758499672 4 189225670 TG T 300 PASS - - - - - Del - D 189225670 189225672 1 6 250.063 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 0 10 0 23 17 23 17 10 0 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758516691 5 50285196 AG A 660 PASS - - - - - Del - D 50285196 50285198 1 42 593.419 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 5 6 6 21 18 21 18 6 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758528557 5 91391363 G GT 300 PASS - - - - - Ins - I 91391363 91391373 1 12 266.726 - - 9 1 1 - - ./. 0 0 0 0 22 19 22 19 0 0 ./. 3 2 3 2 32 27 32 28 3 2 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758529826 5 96353128 C CT 900 PASS LNPEP CCDS4087.1 r.? - - Ins intronic I 96353128 96353137 1 52 800.177 - - 8 1 1 LNPEP|CCDS4087.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LNPEP|CCDS4087.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 12 4 14 22 32 22 32 4 14 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758532290 5 104526271 CTAA C 420 PASS - - - - - Del - D 104526271 104526278 3 20 377.63 - - 2 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 3 4 3 4 15 21 15 21 3 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758549838 5 164922824 CT C 300 PASS - - - - - Del - D 164922824 164922829 1 6 269.736 - - 4 1 1 - - ./. 0 0 0 0 9 22 9 22 0 0 ./. 5 0 5 3 24 24 24 24 5 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758563585 6 22431605 GT G 300 PASS - - - - - Del - D 22431605 22431610 1 12 269.86 - - 4 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 3 3 20 16 20 16 3 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758568724 6 35613892 C CA 720 PASS FKBP5 CCDS4808.1 r.? - - Ins intronic I 35613892 35613901 1 48 639.234 - - 8 1 1 FKBP5|CCDS4808.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FKBP5|CCDS4808.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 18 11 19 0 0 ./. 5 7 6 9 33 30 33 30 6 10 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758570667 6 41919313 C CAA 269 PASS CCND3 CCDS47426.1 r.? - - Ins intronic I 41919313 41919323 2 12 253.604 - - 9 1 - CCND3|CCDS47426.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CCND3|CCDS47426.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 3 4 4 13 17 14 17 4 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758572733 6 47873791 GA G 360 PASS C6orf138 ENST00000398738 r.? - - Del intronic D 47873791 47873795 1 15 323.832 - - 3 1 1 C6orf138|ENST00000398738|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf138|ENST00000398738|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 2 6 2 22 18 22 18 6 2 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758583091 6 82428638 CAAG C 329 PASS FAM46A ENST00000412306 r.? - - Del intronic D 82428638 82428644 3 12 323.832 - - 1 1 1 FAM46A|ENST00000412306|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM46A|ENST00000412306|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 1 10 1 24 12 24 12 10 1 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758591718 6 116081699 CTAAAAGACCATCACGGTCAGCTCCAGAGCTCCTCATAGGGTCAGCT C 261 PASS - - - - - Del - D 116081699 116081746 46 24 485.747 - - 1 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 7 2 4 1 8 7 11 8 7 2 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758606227 7 1850808 GTCTGGGATGGGGGCCAGAAGGGACTTCTCCTT G 377 PASS MAD1L1 CCDS43539.1 r.? - - Del downstream D 1850808 1850842 32 14 693.532 - - 1 1 1 MAD1L1|CCDS43539.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MAD1L1|CCDS43539.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 9 10 9 0 0 ./. 0 13 0 8 7 26 7 31 0 13 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758622933 7 53568034 G GT 989 PASS - - - - - Ins - I 53568034 53568036 1 90 903.315 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 9 8 10 10 23 33 24 33 10 10 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758627976 7 67716097 GC G 300 PASS - - - - - Del - D 67716097 67716100 1 10 269.754 - - 2 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 1 4 2 6 19 27 19 27 2 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758653335 7 147817367 C CT 300 PASS CNTNAP2 CCDS5889.1 r.? - - Ins intronic I 147817367 147817377 1 12 266.141 - - 9 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 2 3 5 5 25 26 25 27 5 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758667240 8 27949254 CA C 360 PASS ELP3 CCDS6065.1 r.? - - Del upstream D 27949254 27949256 1 15 324.193 - - 1 1 1 ELP3|CCDS6065.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ELP3|CCDS6065.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 2 5 3 18 15 18 15 5 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758670376 8 38495381 TTTG T 480 PASS - - - - - Del - D 38495381 38495405 3 21 432.257 - - 7 1 - - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 6 2 5 2 25 20 25 20 6 2 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758670406 8 38617546 CT C 300 PASS TACC1 ENST00000330691 r.? - - Del intronic D 38617546 38617554 1 6 270.161 - - 7 1 1 TACC1|ENST00000330691|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TACC1|ENST00000330691|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 0 5 1 30 16 30 16 5 1 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758671484 8 41790761 TGGCTGCTGTGGAGGCGGTGGTGGC T 261 PASS MYST3 CCDS6124.1 r.5497_5520del24 c.4953_4976del24 p.P1652_P1659delPPPPPQQP Del inframe D 41790761 41790794 24 18 481.473 - - 1 1 - MYST3|CCDS6124.1|r.5497_5520del24|c.4953_4976del24|p.P1652_P1659delPPPPPQQP|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 MYST3|CCDS6124.1|r.5497_5520del24|c.4953_4976del24|p.P1652_P1659delPPPPPQQP|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 4 6 4 6 0 0 ./. 1 8 0 7 10 18 10 19 1 8 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758676578 8 63852405 G GA 480 PASS - - - - - Ins - I 63852405 63852415 1 24 427.441 - - 9 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 3 5 6 7 21 25 21 25 6 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758676970 8 65616260 TTC T 480 PASS CYP7B1 CCDS6180.1 r.? - - Del intronic D 65616260 65616268 2 21 432.257 - - 3 1 1 CYP7B1|CCDS6180.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYP7B1|CCDS6180.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 6 3 10 21 27 21 27 3 10 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758677648 8 68203193 GT G 360 PASS ARFGEF1 CCDS6199.1 r.? - - Del intronic D 68203193 68203198 1 12 321.785 - - 4 1 1 ARFGEF1|CCDS6199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARFGEF1|CCDS6199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 5 1 5 23 25 23 25 1 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758680195 8 76961788 GT G 720 PASS - - - - - Del - D 76961788 76961794 1 45 648.386 - - 5 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 8 4 9 4 23 27 23 27 9 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758680745 8 79528225 TGAA T 749 PASS - - - - - Del - D 79528225 79528230 3 54 702.418 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 8 5 10 6 19 18 19 18 10 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758692817 8 121277836 GA G 360 PASS COL14A1 CCDS34938.1 r.? - - Del intronic D 121277836 121277842 1 15 324.193 - - 5 1 1 COL14A1|CCDS34938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL14A1|CCDS34938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 4 4 4 15 21 15 21 4 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758693775 8 124574388 C CTTGA 327 PASS - - - - - Ins - I 124574388 124574390 4 18 361.367 - - 0 1 1 - - ./. 0 0 0 0 15 15 15 16 0 0 ./. 2 5 2 5 20 16 20 16 2 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758701268 9 3799406 TA T 660 PASS - - - - - Del - D 3799406 3799411 1 42 595.018 - - 4 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 6 5 11 6 25 17 25 17 11 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758703776 9 11494096 A AT 600 PASS - - - - - Ins - I 11494096 11494099 1 32 534.905 - - 2 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 7 3 11 7 33 22 33 22 11 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758717896 9 76337716 AG A 269 PASS - - - - - Del - D 76337716 76337719 1 12 267.452 - - 2 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 2 3 3 6 17 23 17 23 3 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758719366 9 81016344 TGTTTACAC T 290 PASS - - - - - Del - D 81016344 81016353 8 27 539.721 - - 1 1 - - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 2 8 3 8 14 27 14 27 3 8 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758725276 9 101282057 G GT 540 PASS GABBR2 CCDS6736.1 r.? - - Ins intronic I 101282057 101282064 1 28 477.802 - - 6 1 1 GABBR2|CCDS6736.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GABBR2|CCDS6736.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 6 5 6 12 19 12 19 5 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758734312 9 130613867 G GT 300 PASS ENG CCDS6880.1 r.? - - Ins intronic I 130613867 130613869 1 12 267.452 - - 1 1 1 ENG|CCDS6880.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENG|CCDS6880.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 3 2 3 2 22 22 22 22 3 2 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758735565 9 133819180 C CG 420 PASS FIBCD1 CCDS6937.1 r.? - - Ins upstream I 133819180 133819185 1 8 373.229 - - 4 1 1 FIBCD1|CCDS6937.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 FIBCD1|CCDS6937.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 5 10 5 11 0 0 ./. 7 0 7 1 15 10 15 10 7 1 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758738372 X 4060110 TC T 480 PASS - - - - - Del - D 4060110 4060117 1 21 428.768 - - 6 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 6 2 8 6 26 33 26 33 8 6 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758739674 X 8892047 TA T 540 PASS - - - - - Del - D 8892047 8892049 1 28 487.105 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 6 3 7 4 28 22 28 22 7 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758739989 X 9956543 C CT 540 PASS - - - - - Ins - I 9956543 9956549 1 24 481.686 - - 5 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 7 3 8 18 29 18 29 3 8 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758740162 X 10915516 T TA 420 PASS - - - - - Ins - I 10915516 10915523 1 20 372.237 - - 6 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 3 4 5 4 24 23 24 23 5 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758740338 X 12160902 ATC A 300 PASS FRMPD4 CCDS35201.1 r.? - - Del intronic D 12160902 12160920 2 10 270.614 - - 8 1 1 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 1 4 1 4 23 32 23 32 1 4 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758752091 X 68041276 CT C 360 PASS - - - - - Del - D 68041276 68041281 1 15 324.737 - - 4 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 2 4 2 18 17 18 17 4 2 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758755553 X 84059632 GT G 305 PASS - - - - - Del - D 84059632 84059642 1 16 324.737 - - 9 1 1 - - ./. 0 0 0 0 25 17 25 17 0 0 ./. 3 3 6 3 21 14 21 14 6 3 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758759546 X 100175163 T TG 300 PASS XKRX CCDS14476.1 r.? - - Ins intronic I 100175163 100175164 1 10 267.604 - - 0 1 1 XKRX|CCDS14476.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XKRX|CCDS14476.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 4 2 5 13 25 13 26 2 5 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758766695 X 131791567 AT A 360 PASS HS6ST2 CCDS48169.1 r.? - - Del intronic D 131791567 131791574 1 15 324.737 - - 6 1 1 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 4 3 7 21 31 21 31 3 7 1 1 1 1 1 1 1 1 2772610 PD7317a PD7317b 2758769971 X 145415101 C CT 600 PASS - - - - - Ins - I 145415101 145415111 1 35 523.166 - - 9 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 6 6 6 33 37 34 37 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759712629 1 885963 GCA G 480 PASS NOC2L CCDS3.1 r.? - - Del intronic D 885963 885971 2 21 430.433 - - 3 1 - NOC2L|CCDS3.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOC2L|CCDS3.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 2 6 3 19 13 19 13 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759712750 1 1307360 CG C 420 PASS AURKAIP1 CCDS25.1 r.? - - Del downstream D 1307360 1307368 1 18 373.619 - - 7 1 1 AURKAIP1|CCDS25.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AURKAIP1|CCDS25.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 2 9 3 23 23 23 23 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759712783 1 1476816 CG C 480 PASS SSU72 CCDS32.1 r.? - - Del downstream D 1476816 1476824 1 21 417.188 - - 7 1 1 SSU72|CCDS32.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 C1orf70|CCDS44040.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 2 8 4 27 23 27 23 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759713053 1 2448929 CG C 540 PASS PANK4 CCDS42.1 r.? - - Del intronic D 2448929 2448937 1 28 481.829 - - 7 1 1 PANK4|CCDS42.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PANK4|CCDS42.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 6 5 8 27 29 27 29 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759713147 1 3014376 TC T 420 PASS PRDM16 CCDS44048.1 r.? - - Del intronic D 3014376 3014380 1 20 372.415 - - 3 1 1 PRDM16|CCDS44048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRDM16|CCDS44048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 3 5 3 17 13 17 13 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759713235 1 3413038 AC A 360 PASS MEGF6 CCDS41237.1 r.? - - Del intronic D 3413038 3413044 1 12 322.223 - - 5 1 1 MEGF6|CCDS41237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MEGF6|CCDS41237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 5 2 6 19 35 19 35 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759713260 1 3545189 TC T 300 PASS TPRG1L CCDS47.1 r.913delC c.? p.? Del 3'UTR variant D 3545189 3545195 1 12 269.021 - - 5 1 1 TPRG1L|CCDS47.1|r.913delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TPRG1L|CCDS47.1|r.913delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 2 3 2 17 16 17 16 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759713380 1 4026677 CT C 420 PASS - - - - - Del - D 4026677 4026684 1 20 376.629 - - 6 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 4 3 5 25 19 25 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759713436 1 4195429 TC T 300 PASS - - - - - Del - D 4195429 4195435 1 10 269.021 - - 5 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 1 4 4 5 19 23 19 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759713538 1 4598404 GA G 300 PASS - - - - - Del - D 4598404 4598410 1 10 269.021 - - 5 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 1 4 2 22 4 22 4 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759713830 1 5674062 GC G 360 PASS - - - - - Del - D 5674062 5674069 1 12 322.825 - - 6 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 1 5 3 7 21 17 21 17 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759713966 1 5929919 G GA 360 PASS NPHP4 CCDS44052.1 r.? - - Ins intronic I 5929919 5929927 1 15 319.213 - - 7 1 1 NPHP4|CCDS44052.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NPHP4|CCDS44052.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 9 12 0 0 ./. 4 2 5 2 32 14 32 14 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759713981 1 6032955 CT C 300 PASS NPHP4 CCDS44052.1 r.? - - Del intronic D 6032955 6032964 1 12 268.419 - - 8 1 1 NPHP4|CCDS44052.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPHP4|CCDS44052.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 6 3 23 18 23 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759714206 1 6738883 AT A 449 PASS DNAJC11 CCDS87.1 r.? - - Del intronic D 6738883 6738890 1 24 430.433 - - 6 1 1 DNAJC11|CCDS87.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC11|CCDS87.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 5 3 5 4 17 17 17 17 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759714359 1 7170342 CT C 300 PASS CAMTA1 CCDS30576.1 r.? - - Del intronic D 7170342 7170352 1 12 261.796 - - 9 1 1 CAMTA1|CCDS30576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMTA1|CCDS30576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 3 2 4 2 27 23 27 23 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759714499 1 7605271 TA T 389 PASS CAMTA1 CCDS30576.1 r.? - - Del intronic D 7605271 7605277 1 14 376.629 - - 5 1 1 CAMTA1|CCDS30576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMTA1|CCDS30576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 1 6 2 27 25 27 25 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759715376 1 10012593 G GT 269 PASS NMNAT1 CCDS108.1 r.? - - Ins intronic I 10012593 10012601 1 12 251.561 - - 7 1 1 NMNAT1|CCDS108.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NMNAT1|CCDS108.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 12 19 13 0 0 ./. 3 2 3 4 23 18 23 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759715561 1 10511390 A AT 420 PASS APITD1 CCDS114.1 r.? - - Ins intronic I 10511390 10511393 1 18 371.813 - - 2 1 1 APITD1|CCDS114.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 APITD1|CCDS114.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 2 5 4 24 19 24 19 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759715653 1 10757647 AC A 300 PASS CASZ1 CCDS41246.1 r.? - - Del intronic D 10757647 10757656 1 6 269.021 - - 8 1 1 CASZ1|CCDS41246.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CASZ1|CCDS41246.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 5 0 6 0 26 12 26 12 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759715749 1 11040104 C CA 360 PASS - - - - - Ins - I 11040104 11040113 1 12 319.213 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 1 5 1 9 23 29 23 29 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759715889 1 11422474 GT G 600 PASS - - - - - Del - D 11422474 11422483 1 35 538.042 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 4 9 6 33 24 33 24 9 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716059 1 11976167 G GT 300 PASS KIAA2013 CCDS141.1 r.? - - Ins downstream I 11976167 11976176 1 12 262.398 - - 8 1 - KIAA2013|CCDS141.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 KIAA2013|ENST00000358733|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 7 5 29 19 29 19 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716063 1 11991165 CA C 300 PASS PLOD1 CCDS142.1 r.? - - Del upstream D 11991165 11991175 1 12 268.419 - - 9 1 1 PLOD1|CCDS142.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PLOD1|CCDS142.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 4 2 20 21 20 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716105 1 12173541 T TGA 300 PASS TNFRSF8 CCDS144.1 r.? - - Ins intronic I 12173541 12173554 2 12 263 - - 6 1 1 TNFRSF8|CCDS144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TNFRSF8|CCDS144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 2 6 2 30 19 30 19 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716116 1 12212910 CT C 420 PASS - - - - - Del - D 12212910 12212919 1 18 376.629 - - 8 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 5 2 6 15 25 15 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716219 1 12563715 A AT 300 PASS VPS13D CCDS30588.1 r.? - - Ins intronic I 12563715 12563723 1 6 261.194 - - 7 1 1 VPS13D|CCDS30588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS13D|CCDS30588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 4 7 4 0 0 ./. 5 0 7 1 23 5 23 5 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716388 1 12982354 CA C 341 PASS PRAMEF7 CCDS30593.1 r.? - - Del downstream D 12982354 12982364 1 8 376.629 - - 9 1 1 PRAMEF7|CCDS30593.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PRAMEF23|ENST00000376192|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 7 0 7 1 37 6 37 6 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716450 1 13834739 CA C 480 PASS LRRC38 ENST00000376085 r.? - - Del intronic D 13834739 13834748 1 24 426.821 - - 8 1 1 LRRC38|ENST00000376085|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRC38|ENST00000376085|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 3 6 4 23 22 23 22 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716690 1 14503652 CA C 360 PASS C1orf196 ENST00000412667 r.? - - Del intronic D 14503652 14503662 1 15 311.988 - - 9 1 1 C1orf196|ENST00000412667|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf196|ENST00000412667|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 4 2 5 17 20 17 20 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716724 1 14645997 AG A 420 PASS - - - - - Del - D 14645997 14646004 1 20 374.221 - - 6 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 4 4 5 21 13 21 13 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716756 1 14742621 A AT 300 PASS - - - - - Ins - I 14742621 14742629 1 10 266.01 - - 7 1 1 - - ./. 0 0 0 0 14 14 14 15 0 0 ./. 4 1 4 2 20 33 20 33 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716814 1 14934358 A AG 540 PASS ENSG00000189337 CCDS152.2 r.? - - Ins intronic I 14934358 14934364 1 28 478.217 - - 5 1 1 ENSG00000189337|CCDS152.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000189337|CCDS152.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 12 10 0 0 ./. 3 6 3 6 23 26 24 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759716917 1 15300029 AT A 360 PASS ENSG00000189337 CCDS152.2 r.? - - Del intronic D 15300029 15300039 1 16 322.223 - - 9 1 1 ENSG00000189337|CCDS152.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000189337|CCDS152.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 3 3 4 3 17 19 17 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759717396 1 16462198 CG C 600 PASS EPHA2 CCDS169.1 r.1534delC c.1379delC p.P460fs*33 Del frameshift D 16462198 16462205 1 27 535.633 - - 6 1 1 EPHA2|CCDS169.1|r.1534delC|c.1379delC|p.P460fs*33|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 EPHA2|CCDS169.1|r.1534delC|c.1379delC|p.P460fs*33|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 10 13 10 13 0 0 ./. 8 2 9 3 27 17 27 17 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759718056 1 17685332 GA G 360 PASS PADI4 CCDS180.1 r.1585delA c.1559delA p.K522fs*5 Del frameshift D 17685332 17685341 1 7 321.019 - - 8 1 1 PADI4|CCDS180.1|r.1585delA|c.1559delA|p.K522fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PADI4|CCDS180.1|r.1585delA|c.1559delA|p.K522fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 0 8 0 22 0 22 0 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759718073 1 17715099 TG T 300 PASS - - - - - Del - D 17715099 17715105 1 12 269.021 - - 5 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 2 3 4 18 24 18 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759718301 1 18395849 TA T 538 PASS - - - - - Del - D 18395849 18395859 1 35 538.042 - - 9 1 1 - - ./. 0 0 0 0 12 8 13 8 0 0 ./. 6 4 9 4 20 19 21 19 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759718405 1 18830761 TA T 300 PASS - - - - - Del - D 18830761 18830763 1 10 266.613 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 1 5 1 26 7 26 7 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759718731 1 19818582 C CA 360 PASS - - - - - Ins - I 19818582 19818589 1 16 318.008 - - 6 1 1 - - ./. 0 0 0 0 10 12 11 12 0 0 ./. 3 3 6 4 28 22 28 22 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759718837 1 20098315 AT A 291 PASS TMCO4 CCDS198.1 r.? - - Del intronic D 20098315 20098323 1 16 322.825 - - 7 1 1 TMCO4|CCDS198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMCO4|CCDS198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 3 4 5 21 25 21 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759718879 1 20232233 CA C 360 PASS OTUD3 CCDS41279.1 r.? - - Del intronic D 20232233 20232242 1 12 322.825 - - 8 1 1 OTUD3|CCDS41279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OTUD3|CCDS41279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 1 5 1 5 14 24 14 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759718880 1 20236886 AT A 300 PASS OTUD3 CCDS41279.1 r.3846delU c.? p.? Del 3'UTR variant D 20236886 20236896 1 12 269.021 - - 9 1 1 OTUD3|CCDS41279.1|r.3846delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 OTUD3|CCDS41279.1|r.3846delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 2 4 3 23 17 23 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759718999 1 20756349 C CG 480 PASS - - - - - Ins - I 20756349 20756356 1 25 423.209 - - 6 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 4 4 4 17 21 17 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759719129 1 21120591 TC T 360 PASS - - - - - Del - D 21120591 21120595 1 15 322.825 - - 3 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 2 6 4 22 23 22 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759719180 1 21301379 GA G 480 PASS EIF4G3 CCDS214.1 r.? - - Del intronic D 21301379 21301387 1 24 430.433 - - 7 1 1 EIF4G3|CCDS214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF4G3|CCDS214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 5 6 7 25 22 25 22 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759719227 1 21391145 TA T 420 PASS EIF4G3 CCDS214.1 r.? - - Del intronic D 21391145 21391155 1 20 376.629 - - 9 1 1 EIF4G3|CCDS214.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 EIF4G3|CCDS214.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 4 4 4 28 20 28 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759720060 1 23778754 CCTT C 329 PASS ASAP3 CCDS44087.1 r.? - - Del intronic D 23778754 23778761 3 15 322.825 - - 2 1 1 ASAP3|CCDS44087.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASAP3|CCDS44087.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 2 6 2 21 16 21 16 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759720062 1 23784018 A AT 420 PASS ASAP3 CCDS44087.1 r.? - - Ins intronic I 23784018 23784027 1 20 371.813 - - 8 1 1 ASAP3|CCDS44087.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASAP3|CCDS44087.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 4 3 4 25 20 25 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759720267 1 24259734 AAAG A 264 PASS - - - - - Del - D 24259734 24259744 3 6 269.021 - - 3 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 0 5 1 6 18 21 18 21 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759720330 1 24371107 CT C 300 PASS - - - - - Del - D 24371107 24371116 1 12 269.021 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 4 4 25 14 25 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759720465 1 24815299 CA C 300 PASS - - - - - Del - D 24815299 24815309 1 10 269.021 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 1 4 1 5 15 28 15 28 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759720486 1 24875983 T TG 360 PASS - - - - - Ins - I 24875983 24875988 1 15 319.213 - - 4 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 4 2 7 4 29 18 30 18 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759720538 1 24993263 CA C 300 PASS SRRM1 CCDS255.1 r.? - - Del intronic D 24993263 24993272 1 10 267.215 - - 8 1 1 SRRM1|CCDS255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRRM1|CCDS255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 1 5 1 11 17 11 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759720600 1 25165500 G GT 300 PASS CLIC4 CCDS256.1 r.? - - Ins intronic I 25165500 25165507 1 10 266.01 - - 6 1 1 CLIC4|CCDS256.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLIC4|CCDS256.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 4 1 7 19 24 19 24 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759721004 1 26667831 CA C 457 PASS AIM1L CCDS30648.1 r.? - - Del intronic D 26667831 26667841 1 25 425.015 - - 9 1 1 AIM1L|CCDS30648.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AIM1L|CCDS30648.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 4 7 5 26 22 26 22 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759721131 1 27104830 AT A 300 PASS ARID1A CCDS285.1 r.? - - Del intronic D 27104830 27104840 1 10 269.021 - - 9 1 1 ARID1A|CCDS285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARID1A|CCDS285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 1 5 2 24 20 24 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759721218 1 27432032 AC A 300 PASS SLC9A1 CCDS295.1 r.? - - Del intronic D 27432032 27432038 1 6 269.021 - - 5 1 1 SLC9A1|CCDS295.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC9A1|ENST00000374086|r.2092delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 0 6 0 26 12 26 12 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759721266 1 27680354 CCT C 300 PASS SYTL1 CCDS298.1 r.1832_1833delCU c.? p.? Del 3'UTR variant D 27680354 27680365 2 12 266.613 - - 5 1 1 SYTL1|CCDS298.1|r.1832_1833delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SYTL1|CCDS298.1|r.1832_1833delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 3 3 23 17 23 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759721460 1 28466588 CT C 569 PASS - - - - - Del - D 28466588 28466598 1 35 538.042 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 4 7 4 26 22 26 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759721474 1 28528601 CA C 389 PASS DNAJC8 CCDS41292.1 r.? - - Del intronic D 28528601 28528611 1 20 376.629 - - 9 1 1 DNAJC8|CCDS41292.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC8|CCDS41292.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 3 5 3 23 15 23 15 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759721571 1 28728113 CT C 300 PASS PHACTR4 CCDS41293.1 r.? - - Del intronic D 28728113 28728122 1 12 259.99 - - 8 1 1 PHACTR4|CCDS41293.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PHACTR4|CCDS41293.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 3 2 3 20 11 20 11 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759721910 1 29445496 G GT 540 PASS EPB41 CCDS331.1 r.4748_4749insu c.? p.? Ins 3'UTR variant I 29445496 29445498 1 24 477.615 - - 1 1 1 EPB41|CCDS331.1|r.4748_4749insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 EPB41|CCDS331.1|r.4748_4749insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 7 3 7 28 23 28 23 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759721925 1 29469984 GT G 300 PASS SFRS4 CCDS333.1 r.? - - Del downstream D 29469984 29469993 1 12 267.817 - - 8 1 1 SFRS4|CCDS333.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SFRS4|CCDS333.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 2 7 5 30 20 30 20 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759721987 1 29612688 TG T 540 PASS PTPRU CCDS335.1 r.? - - Del intronic D 29612688 29612696 1 30 482.431 - - 7 1 1 PTPRU|CCDS335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRU|CCDS335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 5 6 7 24 21 24 21 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759722011 1 29707127 A AT 480 PASS ENSG00000231360 ENST00000455342 r.? - - Ins intronic I 29707127 29707135 1 25 424.413 - - 7 1 1 ENSG00000231360|ENST00000455342|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000231360|ENST00000455342|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 13 10 0 0 ./. 4 4 6 7 33 33 33 34 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759722043 1 29808351 G GA 329 PASS ENSG00000231360 ENST00000455342 r.? - - Ins intronic I 29808351 29808358 1 16 316.202 - - 6 1 1 ENSG00000231360|ENST00000455342|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000231360|ENST00000455342|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 4 3 29 30 30 30 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759722552 1 31701103 C CA 300 PASS NKAIN1 ENST00000373736 r.? - - Ins intronic I 31701103 31701110 1 10 263.602 - - 6 1 1 NKAIN1|ENST00000373736|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NKAIN1|ENST00000373736|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 4 1 8 2 38 20 38 20 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759722553 1 31702392 AT A 480 PASS NKAIN1 ENST00000373736 r.? - - Del intronic D 31702392 31702402 1 25 430.433 - - 9 1 1 NKAIN1|ENST00000373736|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN1|ENST00000373736|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 4 4 6 21 25 21 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759722744 1 32266158 G GC 300 PASS SPOCD1 CCDS347.1 r.1543_1544insg c.1485_1486insG p.Q496fs*58 Ins frameshift I 32266158 32266165 1 10 266.01 - - 6 1 1 SPOCD1|CCDS347.1|r.1543_1544insg|c.1485_1486insG|p.Q496fs*58|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 SPOCD1|CCDS347.1|r.1543_1544insg|c.1485_1486insG|p.Q496fs*58|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 5 8 5 8 0 0 ./. 4 1 5 6 23 37 23 37 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759722751 1 32279234 C CT 418 PASS SPOCD1 CCDS347.1 r.? - - Ins intronic I 32279234 32279242 1 9 425.617 - - 7 1 1 SPOCD1|CCDS347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPOCD1|CCDS347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 12 19 13 0 0 ./. 0 8 1 8 27 30 27 31 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759722937 1 32815910 G GT 420 PASS - - - - - Ins - I 32815910 32815920 1 18 370.006 - - 9 1 1 - - ./. 0 0 0 0 18 6 18 6 0 0 ./. 2 5 3 5 25 31 26 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759722980 1 32956197 CT C 300 PASS ZBTB8B CCDS44104.1 r.? - - Del downstream D 32956197 32956207 1 12 269.021 - - 9 1 1 ZBTB8B|CCDS44104.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZBTB8B|ENST00000291374|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 2 3 21 22 21 22 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759723054 1 33156825 C CA 360 PASS SYNC CCDS367.2 r.? - - Ins intronic I 33156825 33156835 1 12 318.611 - - 9 1 1 SYNC|CCDS367.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SYNC|CCDS367.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 5 3 9 27 28 27 29 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759723086 1 33213897 CA C 300 PASS KIAA1522 CCDS41298.1 r.? - - Del intronic D 33213897 33213907 1 12 266.01 - - 9 1 1 KIAA1522|CCDS41298.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1522|CCDS41298.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 2 3 4 5 26 24 26 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759723134 1 33360557 AAGG A 420 PASS HPCA CCDS370.1 r.? - - Del downstream D 33360557 33360564 3 18 376.629 - - 2 1 1 HPCA|CCDS370.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 TMEM54|CCDS371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 6 16 6 0 0 ./. 5 2 5 4 27 22 27 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759723191 1 33519663 C CA 389 PASS - - - - - Ins - I 33519663 33519672 1 20 363.384 - - 8 1 1 - - ./. 0 0 0 0 18 14 20 14 0 0 ./. 3 4 3 6 25 26 25 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759723221 1 33674046 G GT 416 PASS - - - - - Ins - I 33674046 33674054 1 30 478.819 - - 7 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 4 5 9 5 34 24 35 24 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759723228 1 33699576 TA T 300 PASS - - - - - Del - D 33699576 33699580 1 12 269.021 - - 3 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 2 3 5 3 24 24 24 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759723281 1 33869960 CA C 420 PASS - - - - - Del - D 33869960 33869969 1 8 376.629 - - 8 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 0 7 0 7 9 24 9 24 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759723618 1 35277049 T TTTG 269 PASS - - - - - Ins - I 35277049 35277069 3 12 259.99 - - 6 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 2 3 3 3 28 22 28 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759724034 1 36656371 TA T 269 PASS - - - - - Del - D 36656371 36656379 1 12 256.378 - - 7 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 2 6 4 26 22 26 22 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759724245 1 37388029 AC A 300 PASS GRIK3 CCDS416.1 r.? - - Del intronic D 37388029 37388035 1 10 269.021 - - 5 1 1 GRIK3|CCDS416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIK3|CCDS416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 1 8 2 22 20 22 20 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759724346 1 37786424 TA T 420 PASS - - - - - Del - D 37786424 37786433 1 20 376.629 - - 8 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 4 3 6 7 28 26 28 26 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759724363 1 37817504 A AT 360 PASS - - - - - Ins - I 37817504 37817512 1 7 311.988 - - 7 1 1 - - ./. 0 0 0 0 10 8 10 9 0 0 ./. 6 0 6 0 32 11 32 11 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759724372 1 37852342 TA T 300 PASS - - - - - Del - D 37852342 37852352 1 12 263.602 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 6 23 34 23 34 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759724437 1 38003953 C CA 300 PASS SNIP1 CCDS419.1 r.? - - Ins intronic I 38003953 38003961 1 12 266.01 - - 7 1 1 SNIP1|CCDS419.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNIP1|CCDS419.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 5 12 6 0 0 ./. 2 3 6 6 21 31 21 31 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759724591 1 38355413 A AT 300 PASS INPP5B CCDS41306.1 r.? - - Ins intronic I 38355413 38355421 1 12 265.408 - - 7 1 1 INPP5B|CCDS41306.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 INPP5B|CCDS41306.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 3 3 5 18 31 18 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759724616 1 38407149 AC A 436 PASS INPP5B CCDS41306.1 r.? - - Del intronic D 38407149 38407156 1 32 538.042 - - 6 1 1 INPP5B|CCDS41306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INPP5B|CCDS41306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 7 3 9 3 29 18 29 18 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759724700 1 38647023 CT C 358 PASS - - - - - Del - D 38647023 38647031 1 20 360.373 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 4 5 5 21 35 21 35 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759724887 1 39322849 CA C 360 PASS RRAGC CCDS430.1 r.? - - Del intronic D 39322849 39322859 1 16 322.825 - - 9 1 1 RRAGC|CCDS430.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RRAGC|CCDS430.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 3 4 3 15 33 15 33 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759724890 1 39327875 AT A 300 PASS MYCBP CCDS431.1 r.? - - Del downstream D 39327875 39327884 1 10 269.021 - - 8 1 1 MYCBP|CCDS431.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RRAGC|CCDS430.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 1 5 1 37 20 37 20 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725190 1 39909485 CAT C 360 PASS MACF1 CCDS436.1 r.? - - Del intronic D 39909485 39909492 2 15 322.825 - - 3 1 1 MACF1|CCDS436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACF1|CCDS436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 4 2 6 21 24 21 24 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725240 1 40046146 AT A 420 PASS PABPC4 CCDS44114.1 r.? - - Del upstream D 40046146 40046156 1 14 376.027 - - 9 1 1 PABPC4|CCDS44114.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PABPC4|CCDS44114.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 6 1 7 11 20 11 20 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725324 1 40305400 CT C 360 PASS TRIT1 CCDS30681.1 r.? - - Del downstream D 40305400 40305410 1 12 322.825 - - 9 1 1 TRIT1|CCDS30681.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TRIT1|CCDS30681.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 5 2 8 33 20 33 20 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725408 1 40511973 C CA 509 PASS CAP1 CCDS41309.1 r.? - - Ins intronic I 40511973 40511979 1 28 471.594 - - 5 1 1 CAP1|CCDS41309.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CAP1|CCDS41309.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 6 6 9 34 30 35 30 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725413 1 40517542 G GTT 300 PASS CAP1 CCDS41309.1 r.? - - Ins intronic I 40517542 40517552 2 12 263 - - 9 1 - CAP1|CCDS41309.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CAP1|CCDS41309.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 20 7 20 0 0 ./. 2 3 2 5 20 26 20 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725448 1 40586915 AT A 720 PASS - - - - - Del - D 40586915 40586922 1 45 645.65 - - 6 1 1 - - ./. 0 0 0 0 11 3 11 3 0 0 ./. 8 4 8 4 35 14 35 14 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725481 1 40677286 CT C 300 PASS RLF CCDS448.1 r.? - - Del intronic D 40677286 40677296 1 6 269.021 - - 9 1 1 RLF|CCDS448.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RLF|CCDS448.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 0 7 0 33 12 33 12 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725491 1 40719440 GAT G 269 PASS ZMPSTE24 CCDS449.1 r.? - - Del upstream D 40719440 40719453 2 12 268.419 - - 6 1 1 ZMPSTE24|CCDS449.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZMPSTE24|CCDS449.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 4 3 18 12 18 12 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725546 1 40888569 AGT A 300 PASS SMAP2 CCDS451.1 r.2511_2512delGU c.? p.? Del 3'UTR variant D 40888569 40888584 2 12 267.817 - - 7 1 - SMAP2|CCDS451.1|r.2511_2512delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SMAP2|CCDS451.1|r.2511_2512delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 2 4 3 18 21 18 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725614 1 41064493 G GT 480 PASS - - - - - Ins - I 41064493 41064501 1 24 423.811 - - 7 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 3 5 4 20 37 20 38 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725685 1 41224237 GA G 300 PASS NFYC CCDS44120.1 r.? - - Del intronic D 41224237 41224247 1 10 269.021 - - 9 1 1 NFYC|CCDS44120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFYC|CCDS44120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 1 4 2 30 19 30 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759725819 1 41572025 AC A 472 PASS SCMH1 CCDS30688.1 r.? - - Del intronic D 41572025 41572032 1 21 430.433 - - 6 1 1 SCMH1|CCDS30688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCMH1|CCDS30688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 6 2 8 15 33 15 33 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759726022 1 42506943 GT G 540 PASS - - - - - Del - D 42506943 42506945 1 28 479.421 - - 1 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 6 5 9 23 26 23 26 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759726268 1 43087944 C CT 329 PASS CCDC30 CCDS30690.1 r.? - - Ins intronic I 43087944 43087951 1 12 319.213 - - 6 1 1 CCDC30|CCDS30690.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC30|CCDS30690.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 1 5 1 29 6 30 6 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759726564 1 43978193 GT G 420 PASS - - - - - Del - D 43978193 43978203 1 18 376.629 - - 9 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 5 3 5 18 28 18 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759726681 1 44248485 AT A 300 PASS ST3GAL3 CCDS493.1 r.? - - Del intronic D 44248485 44248495 1 6 269.021 - - 9 1 1 ST3GAL3|CCDS493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST3GAL3|CCDS493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 0 5 1 8 10 36 10 36 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759726734 1 44409674 T TC 300 PASS IPO13 CCDS503.1 r.? - - Ins upstream I 44409674 44409675 1 10 258.184 - - 0 1 - IPO13|CCDS503.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 IPO13|CCDS503.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 1 5 2 21 33 21 33 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759726904 1 44838378 C CA 300 PASS - - - - - Ins - I 44838378 44838388 1 12 266.01 - - 9 1 1 - - ./. 0 0 0 0 7 17 7 18 0 0 ./. 3 2 6 3 27 37 27 37 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759726920 1 44909982 GT G 480 PASS RNF220 CCDS510.1 r.? - - Del intronic D 44909982 44909992 1 25 430.433 - - 9 1 1 RNF220|CCDS510.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF220|CCDS510.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 4 5 5 29 25 29 25 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759727152 1 45661996 GT G 269 PASS ZSWIM5 CCDS41319.1 r.? - - Del intronic D 45661996 45662006 1 12 269.021 - - 9 1 1 ZSWIM5|CCDS41319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZSWIM5|CCDS41319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 21 14 21 0 0 ./. 2 3 4 4 16 14 16 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759727241 1 45989938 CA C 300 PASS PRDX1 CCDS522.1 r.? - - Del upstream D 45989938 45989948 1 12 269.021 - - 9 1 1 PRDX1|CCDS522.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PRDX1|CCDS522.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 5 7 5 0 0 ./. 3 2 6 5 22 18 22 18 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759727292 1 46104176 A AT 420 PASS GPBP1L1 CCDS528.1 r.? - - Ins intronic I 46104176 46104184 1 18 372.415 - - 7 1 1 GPBP1L1|CCDS528.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPBP1L1|CCDS528.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 5 6 6 24 27 24 27 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759727668 1 47380513 A AT 480 PASS - - - - - Ins - I 47380513 47380521 1 16 425.617 - - 7 1 1 - - ./. 0 0 0 0 12 10 13 10 0 0 ./. 7 1 10 2 26 10 26 10 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759727705 1 47663955 TG T 420 PASS - - - - - Del - D 47663955 47663965 1 14 374.221 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 6 3 6 18 24 18 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759727754 1 47795845 C CA 509 PASS CMPK1 CCDS549.1 r.? - - Ins upstream I 47795845 47795855 1 30 478.217 - - 9 1 1 CMPK1|CCDS549.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CMPK1|CCDS549.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 5 5 8 29 33 29 34 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759728244 1 50580422 G GA 360 PASS ELAVL4 CCDS44140.1 r.? - - Ins intronic I 50580422 50580423 1 16 319.213 - - 0 1 1 ELAVL4|CCDS44140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ELAVL4|CCDS44140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 3 3 3 21 17 21 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759728443 1 51613599 CT C 480 PASS C1orf185 CCDS44142.1 r.757delU c.? p.? Del 3'UTR variant D 51613599 51613607 1 24 430.433 - - 7 1 1 C1orf185|CCDS44142.1|r.757delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 C1orf185|CCDS44142.1|r.757delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 5 4 5 19 36 19 36 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759728466 1 51711131 CT C 480 PASS RNF11 CCDS556.1 r.? - - Del intronic D 51711131 51711141 1 25 430.433 - - 9 1 1 RNF11|CCDS556.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF11|CCDS556.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 13 4 13 0 0 ./. 4 4 5 5 23 21 23 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759728469 1 51718287 C CA 300 PASS RNF11 CCDS556.1 r.? - - Ins intronic I 51718287 51718296 1 12 266.01 - - 8 1 1 RNF11|CCDS556.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF11|CCDS556.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 2 7 2 24 20 24 20 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759728497 1 51862024 GT G 360 PASS EPS15 CCDS557.1 r.? - - Del intronic D 51862024 51862033 1 15 321.621 - - 8 1 1 EPS15|CCDS557.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPS15|CCDS557.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 4 4 7 26 17 26 17 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759728584 1 52235650 CT C 420 PASS OSBPL9 CCDS44145.1 r.? - - Del intronic D 52235650 52235659 1 20 376.629 - - 8 1 1 OSBPL9|CCDS44145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OSBPL9|CCDS44145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 3 5 5 20 22 20 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759728797 1 53008880 TAC T 480 PASS ZCCHC11 CCDS30716.1 r.? - - Del intronic D 53008880 53008894 2 21 430.433 - - 6 1 1 ZCCHC11|CCDS30716.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZCCHC11|CCDS30716.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 6 3 6 15 23 15 23 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759728891 1 53275358 CT C 300 PASS ZYG11B CCDS30717.1 r.? - - Del intronic D 53275358 53275368 1 12 261.194 - - 9 1 1 ZYG11B|CCDS30717.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZYG11B|CCDS30717.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 4 3 18 16 18 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759728996 1 53680641 TA T 600 PASS CPT2 CCDS575.1 r.? - - Del downstream D 53680641 53680650 1 27 536.235 - - 8 1 1 CPT2|CCDS575.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C1orf123|CCDS576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 5 16 5 0 0 ./. 2 8 4 8 29 28 29 28 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759729002 1 53697884 TA T 300 PASS MAGOH CCDS577.1 r.? - - Del intronic D 53697884 53697893 1 12 266.01 - - 8 1 1 MAGOH|CCDS577.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGOH|CCDS577.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 2 3 2 6 7 6 7 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759729158 1 54380533 TA T 300 PASS DIO1 CCDS41339.1 r.? - - Del downstream D 54380533 54380543 1 10 269.021 - - 9 1 1 DIO1|CCDS41339.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DIO1|CCDS41339.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 4 8 4 0 0 ./. 4 1 7 1 22 3 22 3 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759729496 1 55375256 TG T 660 PASS - - - - - Del - D 55375256 55375261 1 30 591.846 - - 4 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 9 2 11 3 33 28 33 28 11 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759729720 1 56265307 AT A 540 PASS - - - - - Del - D 56265307 56265313 1 30 484.237 - - 5 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 4 6 5 21 25 21 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759729776 1 56629113 TA T 300 PASS - - - - - Del - D 56629113 56629119 1 12 269.021 - - 5 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 4 4 17 17 17 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730055 1 57839653 AT A 360 PASS DAB1 CCDS607.1 r.? - - Del intronic D 57839653 57839662 1 16 322.825 - - 8 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 9 20 9 0 0 ./. 3 3 5 5 17 17 17 17 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730087 1 57965085 GA G 269 PASS DAB1 CCDS607.1 r.? - - Del intronic D 57965085 57965090 1 12 267.215 - - 4 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 3 4 19 23 19 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730111 1 58022480 GT G 480 PASS DAB1 CCDS607.1 r.? - - Del intronic D 58022480 58022487 1 24 430.433 - - 6 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 3 6 4 25 19 25 19 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730208 1 58589274 CT C 360 PASS DAB1 CCDS607.1 r.? - - Del intronic D 58589274 58589278 1 16 322.825 - - 3 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 3 3 4 22 22 22 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730306 1 59038628 AT A 360 PASS TACSTD2 CCDS609.1 r.? - - Del downstream D 59038628 59038636 1 12 314.396 - - 7 1 - TACSTD2|CCDS609.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TACSTD2|CCDS609.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 1 4 1 21 16 21 16 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730323 1 59118333 GAA G 420 PASS MYSM1 CCDS41343.1 r.? - - Del downstream D 59118333 59118338 2 18 375.425 - - 4 1 1 MYSM1|CCDS41343.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MYSM1|CCDS41343.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 2 5 2 29 15 29 15 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730353 1 59221764 TA T 360 PASS - - - - - Del - D 59221764 59221774 1 12 322.825 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 5 3 7 16 33 16 33 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730435 1 59600708 GA G 360 PASS - - - - - Del - D 59600708 59600718 1 15 322.825 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 2 4 2 22 2 22 2 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730622 1 60462152 AT A 420 PASS C1orf87 CCDS614.1 r.? - - Del intronic D 60462152 60462155 1 20 376.629 - - 2 1 1 C1orf87|CCDS614.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf87|CCDS614.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 4 5 5 16 22 16 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730664 1 60662461 CTAAT C 269 PASS - - - - - Del - D 60662461 60662468 4 6 269.021 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 0 6 0 14 7 14 7 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730757 1 61120580 GC G 540 PASS - - - - - Del - D 61120580 61120586 1 30 484.237 - - 5 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 5 7 5 27 28 27 28 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730775 1 61171613 CTT C 269 PASS - - - - - Del - D 61171613 61171617 2 10 266.01 - - 3 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 1 4 2 29 11 29 11 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759730827 1 61420245 TA T 420 PASS NFIA ENST00000371191 r.? - - Del intronic D 61420245 61420253 1 20 376.027 - - 7 1 1 NFIA|ENST00000371191|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFIA|ENST00000371191|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 4 4 5 15 29 15 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759731108 1 62356820 GA G 329 PASS INADL CCDS617.2 r.? - - Del intronic D 62356820 62356830 1 15 322.825 - - 9 1 1 INADL|CCDS617.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INADL|CCDS617.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 4 3 5 12 12 12 12 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759731356 1 62911650 CA C 480 PASS USP1 CCDS621.1 r.? - - Del intronic D 62911650 62911660 1 24 430.433 - - 9 1 1 USP1|CCDS621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP1|CCDS621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 3 6 4 15 18 15 18 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759731514 1 63439576 C CT 300 PASS - - - - - Ins - I 63439576 63439582 1 12 266.01 - - 5 1 1 - - ./. 0 0 0 0 12 7 12 8 0 0 ./. 3 2 4 3 24 19 24 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759731698 1 64214611 AT A 300 PASS - - - - - Del - D 64214611 64214620 1 12 269.021 - - 8 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 3 2 4 2 21 15 21 15 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759731726 1 64266975 C CT 480 PASS ROR1 CCDS626.1 r.? - - Ins intronic I 64266975 64266984 1 21 424.413 - - 8 1 1 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 20 17 21 0 0 ./. 6 2 9 2 20 9 20 9 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759731847 1 64739018 GA G 420 PASS - - - - - Del - D 64739018 64739026 1 14 376.629 - - 7 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 6 1 7 5 20 23 20 23 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759731975 1 65152440 AT A 420 PASS CACHD1 CCDS628.2 r.? - - Del intronic D 65152440 65152448 1 20 376.629 - - 7 1 1 CACHD1|CCDS628.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACHD1|CCDS628.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 13 21 13 0 0 ./. 4 3 6 4 24 23 24 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759732023 1 65403356 CA C 300 PASS JAK1 CCDS41346.1 r.? - - Del intronic D 65403356 65403366 1 10 269.021 - - 9 1 1 JAK1|CCDS41346.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 JAK1|CCDS41346.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 4 17 4 0 0 ./. 1 4 1 5 20 11 20 11 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759732204 1 65883457 G GT 420 PASS LEPR CCDS631.1 r.? - - Ins upstream I 65883457 65883465 1 18 369.404 - - 7 1 1 LEPR|CCDS631.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 LEPR|CCDS631.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 10 22 10 22 0 0 ./. 2 5 3 5 24 30 26 30 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759732423 1 66655420 AT A 471 PASS PDE4B CCDS632.1 r.? - - Del intronic D 66655420 66655430 1 40 591.846 - - 9 1 1 PDE4B|CCDS632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4B|CCDS632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 4 7 5 7 15 33 15 33 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759732493 1 67074621 GT G 480 PASS SGIP1 CCDS30744.1 r.? - - Del intronic D 67074621 67074630 1 25 430.433 - - 8 1 1 SGIP1|CCDS30744.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGIP1|CCDS30744.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 4 4 5 26 25 26 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759732657 1 67586169 T TC 420 PASS C1orf141 CCDS30745.1 r.? - - Ins intronic I 67586169 67586177 1 20 372.415 - - 7 1 1 C1orf141|CCDS30745.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C1orf141|CCDS30745.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 4 3 7 17 25 17 26 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759732954 1 68581497 AT A 300 PASS WLS CCDS30750.1 r.? - - Del intronic D 68581497 68581507 1 12 269.021 - - 9 1 1 WLS|CCDS30750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WLS|CCDS30750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 3 4 4 18 10 18 10 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759733156 1 69366091 CA C 300 PASS - - - - - Del - D 69366091 69366100 1 10 269.021 - - 8 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 4 3 4 17 16 17 16 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759733176 1 69452025 AAC A 300 PASS - - - - - Del - D 69452025 69452028 2 12 267.817 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 3 4 3 28 28 28 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759733372 1 70506990 AT A 360 PASS LRRC7 CCDS645.1 r.? - - Del intronic D 70506990 70506999 1 16 322.825 - - 8 1 1 LRRC7|CCDS645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRC7|CCDS645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 14 3 14 0 0 ./. 3 3 5 4 23 14 23 14 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759733408 1 70726318 CT C 360 PASS ANKRD13C CCDS648.2 r.4021delA c.? p.? Del 3'UTR variant D 70726318 70726326 1 16 322.825 - - 7 1 1 ANKRD13C|CCDS648.2|r.4021delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ANKRD13C|CCDS648.2|r.4021delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 3 3 3 17 20 17 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759733609 1 71521153 C CT 300 PASS - - - - - Ins - I 71521153 71521161 1 12 266.01 - - 7 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 2 3 2 3 20 35 20 35 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759733632 1 71584784 C CT 300 PASS - - - - - Ins - I 71584784 71584792 1 12 266.01 - - 7 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 3 2 4 3 27 22 28 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759733860 1 72444708 TA T 360 PASS NEGR1 CCDS661.1 r.? - - Del intronic D 72444708 72444718 1 15 322.825 - - 9 1 1 NEGR1|CCDS661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEGR1|CCDS661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 4 2 5 25 31 25 31 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759734132 1 73580140 CT C 300 PASS - - - - - Del - D 73580140 73580147 1 12 268.419 - - 6 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 2 5 2 28 12 28 12 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759734218 1 73826563 G GA 329 PASS - - - - - Ins - I 73826563 73826572 1 16 318.611 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 3 5 4 24 23 24 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759734227 1 73926632 T TA 360 PASS - - - - - Ins - I 73926632 73926639 1 15 318.611 - - 6 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 4 2 5 16 19 16 19 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759734237 1 73987059 GA G 480 PASS - - - - - Del - D 73987059 73987069 1 24 430.433 - - 9 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 3 5 5 20 22 20 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759734351 1 74486857 GA G 360 PASS LRRIQ3 CCDS41350.1 r.? - - Del downstream D 74486857 74486863 1 15 322.825 - - 5 1 1 LRRIQ3|CCDS41350.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LRRIQ3|CCDS41350.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 7 6 7 0 0 ./. 2 4 3 5 9 28 9 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759734577 1 75634258 CT C 480 PASS - - - - - Del - D 75634258 75634268 1 21 429.831 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 6 2 8 20 27 20 27 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759734629 1 75867858 TG T 420 PASS SLC44A5 CCDS667.1 r.? - - Del intronic D 75867858 75867860 1 18 376.629 - - 1 1 1 SLC44A5|CCDS667.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC44A5|CCDS667.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 5 4 7 32 21 32 21 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759734823 1 76622426 CT C 540 PASS ST6GALNAC3 CCDS672.1 r.? - - Del intronic D 76622426 76622435 1 30 484.237 - - 8 1 1 ST6GALNAC3|CCDS672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST6GALNAC3|CCDS672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 5 4 6 6 21 27 21 27 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759734922 1 76962271 AG A 300 PASS ST6GALNAC3 CCDS672.1 r.? - - Del intronic D 76962271 76962276 1 12 262.398 - - 4 1 1 ST6GALNAC3|CCDS672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST6GALNAC3|CCDS672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 2 3 2 4 9 24 9 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735008 1 77292871 TA T 360 PASS - - - - - Del - D 77292871 77292880 1 15 322.825 - - 8 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 2 4 4 4 12 17 12 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735025 1 77410562 GA G 300 PASS ST6GALNAC5 CCDS673.1 r.? - - Del intronic D 77410562 77410572 1 12 269.021 - - 9 1 1 ST6GALNAC5|CCDS673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST6GALNAC5|CCDS673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 2 3 4 21 18 21 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735066 1 77589928 CA C 360 PASS PIGK CCDS674.1 r.? - - Del intronic D 77589928 77589938 1 16 319.815 - - 9 1 1 PIGK|CCDS674.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIGK|CCDS674.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 3 5 3 20 16 20 16 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735134 1 77807212 C CT 300 PASS AK5 CCDS676.1 r.? - - Ins intronic I 77807212 77807220 1 12 266.01 - - 7 1 1 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 6 8 7 0 0 ./. 3 2 3 4 19 28 20 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735195 1 77981435 TA T 420 PASS AK5 CCDS676.1 r.? - - Del intronic D 77981435 77981444 1 18 376.629 - - 8 1 1 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 2 5 3 5 17 20 17 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735199 1 77988572 GT G 269 PASS AK5 CCDS676.1 r.? - - Del intronic D 77988572 77988582 1 12 269.021 - - 9 1 1 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 18 5 18 0 0 ./. 3 2 4 2 24 20 24 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735274 1 78254203 C CT 360 PASS FAM73A CCDS681.1 r.? - - Ins intronic I 78254203 78254212 1 7 319.213 - - 8 1 1 FAM73A|CCDS681.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM73A|CCDS681.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 0 6 0 6 28 25 29 25 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735416 1 78642068 TA T 300 PASS - - - - - Del - D 78642068 78642075 1 10 269.021 - - 6 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 1 4 1 4 32 20 32 20 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735514 1 79153156 A AT 360 PASS - - - - - Ins - I 79153156 79153166 1 15 319.213 - - 9 1 1 - - ./. 0 0 0 0 16 12 16 13 0 0 ./. 4 2 5 2 26 16 26 16 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735515 1 79153634 AG A 480 PASS - - - - - Del - D 79153634 79153636 1 24 430.433 - - 1 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 5 3 6 3 24 26 24 26 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735608 1 79479546 AT A 360 PASS - - - - - Del - D 79479546 79479555 1 12 322.825 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 1 5 3 19 19 19 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759735987 1 80843377 CT C 300 PASS - - - - - Del - D 80843377 80843386 1 6 269.021 - - 8 1 1 - - ./. 0 0 0 0 18 4 18 4 0 0 ./. 0 5 2 5 18 21 18 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759736025 1 81007337 GA G 360 PASS - - - - - Del - D 81007337 81007343 1 7 322.825 - - 5 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 6 0 7 0 29 2 29 2 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759736052 1 81111748 G GA 300 PASS - - - - - Ins - I 81111748 81111753 1 12 261.796 - - 4 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 2 3 5 6 24 38 24 38 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759736146 1 81397339 CA C 300 PASS - - - - - Del - D 81397339 81397349 1 10 269.021 - - 9 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 1 4 2 3 12 17 12 17 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759736213 1 81591387 CA C 480 PASS - - - - - Del - D 81591387 81591397 1 24 429.229 - - 9 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 5 3 7 4 26 19 26 19 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759736326 1 81932290 TA T 660 PASS LPHN2 ENST00000370728 r.? - - Del intronic D 81932290 81932295 1 36 591.846 - - 4 1 1 LPHN2|ENST00000370728|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPHN2|ENST00000370728|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 8 5 9 24 32 24 32 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759736391 1 82116953 GA G 600 PASS LPHN2 ENST00000370728 r.? - - Del intronic D 82116953 82116963 1 36 538.042 - - 9 1 1 LPHN2|ENST00000370728|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPHN2|ENST00000370728|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 5 5 6 24 30 24 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759736426 1 82234603 TA T 420 PASS LPHN2 CCDS689.1 r.? - - Del intronic D 82234603 82234613 1 20 374.823 - - 9 1 1 LPHN2|CCDS689.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPHN2|CCDS689.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 3 4 5 20 16 20 16 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759736937 1 83960116 G GA 420 PASS - - - - - Ins - I 83960116 83960125 1 20 372.415 - - 8 1 1 - - ./. 0 0 0 0 20 16 21 16 0 0 ./. 4 3 6 3 19 15 19 15 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759737121 1 84601421 AT A 300 PASS PRKACB CCDS691.1 r.? - - Del intronic D 84601421 84601431 1 6 269.021 - - 9 1 1 PRKACB|CCDS691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKACB|CCDS691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 0 5 0 7 1 23 1 23 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759737253 1 85120695 CA C 660 PASS SSX2IP CCDS699.1 r.? - - Del intronic D 85120695 85120704 1 42 591.846 - - 8 1 1 SSX2IP|CCDS699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SSX2IP|CCDS699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 6 5 11 16 27 16 27 5 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759737431 1 85646667 GA G 300 PASS SYDE2 CCDS44169.1 r.? - - Del intronic D 85646667 85646672 1 6 269.021 - - 4 1 1 SYDE2|CCDS44169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYDE2|CCDS44169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 0 6 1 27 13 27 13 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759737465 1 85746422 GT G 360 PASS BCL10 CCDS704.1 r.? - - Del upstream D 85746422 85746430 1 16 322.825 - - 7 1 1 BCL10|CCDS704.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 BCL10|CCDS704.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 3 3 3 23 26 23 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759737527 1 85921124 C CT 300 PASS DDAH1 CCDS705.1 r.? - - Ins intronic I 85921124 85921134 1 10 266.01 - - 9 1 1 DDAH1|CCDS705.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DDAH1|CCDS705.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 4 1 5 2 26 20 27 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759737538 1 85967265 C CA 540 PASS - - - - - Ins - I 85967265 85967268 1 30 477.615 - - 2 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 4 6 5 26 32 26 32 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759737915 1 87129847 C CA 313 PASS - - - - - Ins - I 87129847 87129854 1 15 319.213 - - 6 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 4 2 5 14 28 14 28 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738005 1 87371154 CA C 300 PASS ENSG00000183291 ENST00000331835 r.? - - Del intronic D 87371154 87371162 1 6 269.021 - - 7 1 1 ENSG00000183291|ENST00000331835|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000183291|ENST00000331835|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 0 6 0 28 5 28 5 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738168 1 87939437 TGA T 269 PASS - - - - - Del - D 87939437 87939453 2 12 260.592 - - 7 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 3 2 3 19 19 19 19 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738180 1 88009073 C CT 360 PASS - - - - - Ins - I 88009073 88009081 1 15 319.213 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 4 3 4 22 25 22 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738251 1 88263194 TA T 360 PASS - - - - - Del - D 88263194 88263203 1 16 322.825 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 3 3 5 28 16 28 16 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738295 1 88437261 CT C 660 PASS - - - - - Del - D 88437261 88437269 1 42 591.846 - - 7 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 6 5 6 6 35 21 35 21 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738306 1 88467713 GA G 360 PASS - - - - - Del - D 88467713 88467723 1 12 322.825 - - 9 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 1 6 5 27 31 27 31 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738341 1 88658106 CA C 360 PASS - - - - - Del - D 88658106 88658114 1 15 322.825 - - 7 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 2 5 4 17 27 17 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738364 1 88734238 GT G 420 PASS - - - - - Del - D 88734238 88734246 1 20 376.629 - - 7 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 3 6 4 29 26 29 26 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738371 1 88754977 TA T 300 PASS - - - - - Del - D 88754977 88754986 1 12 269.021 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 3 3 37 26 37 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738624 1 89688191 TA T 540 PASS - - - - - Del - D 89688191 89688199 1 28 484.237 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 6 5 6 20 20 20 20 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738636 1 89757800 T TA 360 PASS - - - - - Ins - I 89757800 89757810 1 16 307.171 - - 9 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 3 5 28 28 28 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738713 1 89967912 GA G 600 PASS - - - - - Del - D 89967912 89967922 1 32 534.429 - - 9 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 7 3 8 5 30 28 30 28 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738914 1 90762931 AT A 420 PASS - - - - - Del - D 90762931 90762936 1 14 376.629 - - 4 1 1 - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 1 6 1 6 11 21 11 21 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759738966 1 91086349 GT G 300 PASS - - - - - Del - D 91086349 91086357 1 6 269.021 - - 7 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 0 6 1 34 5 34 5 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759739055 1 91359362 A AT 540 PASS - - - - - Ins - I 91359362 91359363 1 30 478.217 - - 0 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 5 4 6 27 20 28 20 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759739252 1 91890915 G GT 300 PASS - - - - - Ins - I 91890915 91890922 1 12 266.01 - - 6 1 1 - - ./. 0 0 0 0 13 12 14 12 0 0 ./. 3 2 4 2 27 26 27 26 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759739387 1 92252320 CA C 300 PASS TGFBR3 CCDS30770.1 r.? - - Del intronic D 92252320 92252330 1 6 266.01 - - 9 1 1 TGFBR3|CCDS30770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TGFBR3|CCDS30770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 0 5 2 7 26 34 26 34 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759739423 1 92348887 GA G 360 PASS TGFBR3 CCDS30770.1 r.? - - Del intronic D 92348887 92348896 1 16 322.825 - - 8 1 1 TGFBR3|CCDS30770.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TGFBR3|CCDS30770.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 3 4 4 28 23 28 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759739455 1 92391505 TA T 360 PASS - - - - - Del - D 92391505 92391514 1 12 321.621 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 1 6 1 29 8 29 8 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759739663 1 93001136 TA T 382 PASS EVI5 CCDS30774.1 r.? - - Del intronic D 93001136 93001146 1 20 376.629 - - 9 1 1 EVI5|CCDS30774.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EVI5|CCDS30774.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 3 6 4 14 18 14 18 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759739681 1 93055416 AC A 446 PASS EVI5 CCDS30774.1 r.? - - Del intronic D 93055416 93055424 1 24 425.015 - - 7 1 1 EVI5|CCDS30774.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EVI5|CCDS30774.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 5 3 7 15 21 15 21 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759739793 1 93395982 TA T 300 PASS FAM69A CCDS44173.1 r.? - - Del intronic D 93395982 93395992 1 12 269.021 - - 9 1 1 FAM69A|CCDS44173.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM69A|CCDS44173.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 5 4 22 25 22 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759740498 1 95897854 C CA 360 PASS - - - - - Ins - I 95897854 95897860 1 7 319.213 - - 5 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 0 6 2 7 27 30 27 30 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759740688 1 96788013 C CA 300 PASS - - - - - Ins - I 96788013 96788021 1 12 266.01 - - 7 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 2 3 3 21 19 21 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759740913 1 97649869 CT C 300 PASS DPYD CCDS30777.1 r.? - - Del intronic D 97649869 97649878 1 6 269.021 - - 8 1 1 DPYD|CCDS30777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPYD|CCDS30777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 7 22 7 0 0 ./. 0 5 0 7 3 17 3 17 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759740971 1 98005740 GC G 600 PASS DPYD CCDS30777.1 r.? - - Del intronic D 98005740 98005746 1 32 538.042 - - 5 1 1 DPYD|CCDS30777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPYD|CCDS30777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 3 7 3 7 9 19 9 19 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759741396 1 99899682 TC T 480 PASS - - - - - Del - D 99899682 99899687 1 25 430.433 - - 4 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 4 4 7 7 27 25 27 25 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759741474 1 100226214 CT C 300 PASS FRRS1 CCDS30780.1 r.? - - Del intronic D 100226214 100226224 1 12 267.215 - - 9 1 1 FRRS1|CCDS30780.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FRRS1|CCDS30780.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 3 4 3 29 22 29 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759741695 1 100900291 GT G 540 PASS CDC14A CCDS769.1 r.? - - Del intronic D 100900291 100900301 1 28 484.237 - - 9 1 1 CDC14A|CCDS769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC14A|CCDS769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 6 3 6 3 30 18 30 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759742271 1 102892790 TA T 282 PASS - - - - - Del - D 102892790 102892797 1 21 430.433 - - 6 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 6 3 7 9 19 9 19 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759742508 1 104370225 A AT 360 PASS - - - - - Ins - I 104370225 104370234 1 16 319.213 - - 8 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 3 3 5 3 13 12 14 12 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759742518 1 104409583 CT C 540 PASS - - - - - Del - D 104409583 104409591 1 30 483.033 - - 7 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 4 7 5 21 25 21 25 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759742774 1 105373269 CA C 600 PASS - - - - - Del - D 105373269 105373279 1 36 537.44 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 5 5 5 20 15 20 15 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759742818 1 105534672 CA C 420 PASS - - - - - Del - D 105534672 105534682 1 20 376.629 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 3 4 4 17 17 17 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759743023 1 106164564 CT C 300 PASS - - - - - Del - D 106164564 106164574 1 12 266.613 - - 9 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 2 3 3 4 13 17 13 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759743185 1 107119603 TA T 600 PASS - - - - - Del - D 107119603 107119613 1 35 538.042 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 6 5 8 29 28 29 28 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759743193 1 107165338 G GT 300 PASS - - - - - Ins - I 107165338 107165346 1 6 266.01 - - 7 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 0 5 1 7 10 18 10 18 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759743385 1 108038882 AATT A 420 PASS - - - - - Del - D 108038882 108038891 3 18 376.629 - - 2 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 5 2 6 4 21 23 21 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759743416 1 108207852 TAGA T 329 PASS VAV3 CCDS785.1 r.? - - Del intronic D 108207852 108207861 3 16 322.223 - - 2 1 1 VAV3|CCDS785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VAV3|CCDS785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 3 5 5 16 22 16 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759743453 1 108360438 G GA 480 PASS VAV3 CCDS785.1 r.? - - Ins intronic I 108360438 108360447 1 21 425.617 - - 8 1 1 VAV3|CCDS785.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VAV3|CCDS785.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 6 2 8 3 25 19 25 19 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759743664 1 109307354 G GT 360 PASS STXBP3 CCDS790.1 r.? - - Ins intronic I 109307354 109307363 1 16 319.213 - - 8 1 1 STXBP3|CCDS790.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STXBP3|CCDS790.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 3 3 6 5 24 26 24 27 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759743731 1 109483605 TA T 360 PASS CLCC1 CCDS41362.1 r.? - - Del intronic D 109483605 109483614 1 15 322.825 - - 8 1 1 CLCC1|CCDS41362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLCC1|CCDS41362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 4 2 6 12 18 12 18 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759743880 1 109865159 GT G 269 PASS SORT1 CCDS798.1 r.? - - Del intronic D 109865159 109865168 1 12 269.021 - - 8 1 1 SORT1|CCDS798.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORT1|CCDS798.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 3 3 24 23 24 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759743926 1 110012113 GT G 360 PASS SYPL2 CCDS41365.1 r.? - - Del intronic D 110012113 110012123 1 12 322.825 - - 9 1 1 SYPL2|CCDS41365.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYPL2|CCDS41365.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 5 2 5 6 15 6 15 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759744063 1 110555234 GT G 300 PASS AHCYL1 CCDS818.1 r.? - - Del intronic D 110555234 110555244 1 10 268.419 - - 9 1 1 AHCYL1|CCDS818.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AHCYL1|CCDS818.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 1 4 5 5 25 19 25 19 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759744094 1 110690235 AT A 780 PASS SLC6A17 CCDS30799.1 r.? - - Del upstream D 110690235 110690245 1 54 699.454 - - 9 1 1 SLC6A17|CCDS30799.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SLC6A17|CCDS30799.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 8 5 8 28 32 28 32 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759744186 1 110982319 CT C 300 PASS - - - - - Del - D 110982319 110982325 1 10 269.021 - - 5 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 1 5 1 19 20 19 20 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759744658 1 113035169 GA G 480 PASS WNT2B ENST00000256640 r.? - - Del intronic D 113035169 113035175 1 24 430.433 - - 5 1 1 WNT2B|ENST00000256640|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 WNT2B|ENST00000256640|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 3 5 3 23 15 23 15 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759744821 1 113560645 CA C 300 PASS - - - - - Del - D 113560645 113560652 1 12 269.021 - - 6 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 2 3 2 23 17 23 17 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759744950 1 113883309 AT A 329 PASS - - - - - Del - D 113883309 113883319 1 15 322.825 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 4 3 5 26 19 26 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759745137 1 114624718 G GT 300 PASS - - - - - Ins - I 114624718 114624726 1 12 266.01 - - 7 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 2 4 2 26 33 26 33 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759745343 1 115241097 CT C 360 PASS AMPD1 CCDS876.1 r.? - - Del upstream D 115241097 115241107 1 16 322.825 - - 9 1 1 AMPD1|CCDS876.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AMPD1|CCDS876.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 3 6 6 22 22 22 22 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759745352 1 115279326 AG A 420 PASS CSDE1 CCDS44197.1 r.? - - Del intronic D 115279326 115279333 1 14 376.027 - - 6 1 1 CSDE1|CCDS44197.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSDE1|CCDS44197.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 1 6 2 7 21 29 21 29 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759745424 1 115546774 CT C 300 PASS - - - - - Del - D 115546774 115546784 1 12 269.021 - - 9 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 2 3 3 4 22 21 22 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759745436 1 115604160 AT A 480 PASS TSPAN2 CCDS881.1 r.? - - Del intronic D 115604160 115604170 1 25 429.229 - - 9 1 1 TSPAN2|CCDS881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSPAN2|CCDS881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 4 4 6 18 16 18 16 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759745456 1 115688561 T TA 360 PASS - - - - - Ins - I 115688561 115688571 1 15 318.611 - - 9 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 4 2 4 2 22 26 22 26 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759745511 1 115983753 CT C 420 PASS - - - - - Del - D 115983753 115983762 1 20 376.629 - - 8 1 1 - - ./. 0 0 0 0 8 23 8 23 0 0 ./. 3 4 4 6 20 23 20 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759745806 1 117269894 CA C 600 PASS - - - - - Del - D 117269894 117269901 1 36 538.042 - - 6 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 5 8 7 31 22 31 22 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759746090 1 118414703 TA T 300 PASS GDAP2 CCDS897.1 r.? - - Del intronic D 118414703 118414711 1 10 269.021 - - 7 1 1 GDAP2|CCDS897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GDAP2|CCDS897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 1 7 2 30 10 30 10 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759746366 1 119739816 CG C 480 PASS - - - - - Del - D 119739816 119739822 1 21 429.229 - - 5 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 6 2 9 2 28 22 28 22 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759746373 1 119772769 CT C 300 PASS - - - - - Del - D 119772769 119772779 1 10 269.021 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 4 2 5 21 23 21 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759746427 1 120030018 AT A 300 PASS AL121995.1 ENST00000506663 r.? - - Del intronic D 120030018 120030028 1 10 269.021 - - 9 1 1 AL121995.1|ENST00000506663|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL121995.1|ENST00000506663|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 1 5 1 24 21 24 21 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759746751 1 121251787 CA C 420 PASS - - - - - Del - D 121251787 121251796 1 20 376.629 - - 8 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 3 7 5 32 31 32 31 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759748604 1 144023589 TG T 293 PASS - - - - - Del - D 144023589 144023591 1 18 374.823 - - 1 1 1 - - ./. 0 0 0 0 26 19 26 19 0 0 ./. 2 5 2 6 53 49 53 49 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759748648 1 144527405 TG T 1080 PASS AL592284.1 CCDS3072.1 r.? - - Del intronic D 144527405 144527407 1 99 966.067 - - 1 1 1 AL592284.1|CCDS3072.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL592284.1|CCDS3072.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 36 52 36 52 0 0 ./. 8 10 11 15 133 113 133 113 11 15 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759748952 1 145006743 TTCTC T 269 PASS PDE4DIP CCDS30827.1 r.? - - Del intronic D 145006743 145006750 4 6 269.021 - - 3 1 1 PDE4DIP|CCDS30827.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4DIP|CCDS30827.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 36 35 36 35 0 0 ./. 0 5 1 6 37 99 37 99 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759749562 1 146649459 CT C 360 PASS - - - - - Del - D 146649459 146649469 1 15 322.223 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 2 5 2 45 34 45 34 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759749580 1 146691583 A AT 360 PASS FMO5 CCDS926.1 r.? - - Ins intronic I 146691583 146691590 1 15 318.611 - - 6 1 1 FMO5|CCDS926.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMO5|CCDS926.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 2 4 3 26 23 26 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759749812 1 147261115 CA C 600 PASS - - - - - Del - D 147261115 147261123 1 35 538.042 - - 7 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 4 7 4 29 26 29 26 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759749815 1 147276930 TA T 300 PASS - - - - - Del - D 147276930 147276938 1 12 267.215 - - 7 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 2 4 4 25 27 25 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759749909 1 147816516 G GA 269 PASS - - - - - Ins - I 147816516 147816525 1 6 264.204 - - 8 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 0 7 0 42 0 43 0 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759749991 1 148518672 GA G 290 PASS - - - - - Del - D 148518672 148518680 1 30 484.237 - - 7 1 - - - ./. 0 0 0 0 31 32 31 32 0 0 ./. 5 4 6 4 94 70 94 70 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759750238 1 148880881 CT C 259 PASS - - - - - Del - D 148880881 148880887 1 50 699.454 - - 5 1 1 - - ./. 0 0 0 0 21 27 21 27 0 0 ./. 9 4 11 5 159 55 159 55 11 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759750297 1 148938986 TAC T 319 PASS - - - - - Del - D 148938986 148938990 2 28 484.237 - - 1 1 1 - - ./. 0 0 0 0 11 23 11 23 0 0 ./. 3 6 4 6 80 53 80 53 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759750753 1 150156851 CA C 600 PASS - - - - - Del - D 150156851 150156860 1 32 537.44 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 7 4 9 27 27 27 27 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759750791 1 150242595 CA C 600 PASS APH1A CCDS41391.1 r.? - - Del upstream D 150242595 150242605 1 35 538.042 - - 9 1 1 APH1A|CCDS41391.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C1orf54|CCDS948.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 6 7 7 39 30 39 30 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759750838 1 150306330 AT A 360 PASS PRPF3 CCDS951.1 r.? - - Del intronic D 150306330 150306339 1 12 322.825 - - 8 1 1 PRPF3|CCDS951.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRPF3|CCDS951.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 1 5 2 6 22 26 22 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759750876 1 150342265 G GT 269 PASS RPRD2 CCDS44216.1 r.? - - Ins intronic I 150342265 150342275 1 12 256.98 - - 9 1 1 RPRD2|CCDS44216.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RPRD2|CCDS44216.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 7 2 33 6 33 6 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751137 1 150808185 A AT 360 PASS ARNT CCDS970.1 r.? - - Ins intronic I 150808185 150808193 1 12 319.213 - - 7 1 1 ARNT|CCDS970.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARNT|CCDS970.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 10 8 0 0 ./. 5 1 6 1 27 21 27 22 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751152 1 150841952 C CA 480 PASS ARNT CCDS970.1 r.? - - Ins intronic I 150841952 150841960 1 21 425.617 - - 7 1 1 ARNT|CCDS970.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARNT|CCDS970.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 11 0 0 ./. 2 6 5 8 15 38 15 38 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751154 1 150845443 GA G 300 PASS ARNT CCDS970.1 r.? - - Del intronic D 150845443 150845452 1 10 269.021 - - 8 1 1 ARNT|CCDS970.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARNT|CCDS970.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 1 4 1 29 27 29 27 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751255 1 151031140 ACC A 389 PASS MLLT11 CCDS982.1 r.908_909delCC c.? p.? Del 5'UTR variant D 151031140 151031147 2 20 376.629 - - 6 1 1 MLLT11|CCDS982.1|r.908_909delCC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 MLLT11|CCDS982.1|r.908_909delCC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 3 4 4 28 30 28 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751284 1 151078763 GA G 540 PASS GABPB2 CCDS983.1 r.? - - Del intronic D 151078763 151078773 1 28 479.421 - - 9 1 1 GABPB2|CCDS983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GABPB2|CCDS983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 3 8 7 41 23 41 23 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751451 1 151375970 G GT 540 PASS POGZ CCDS997.1 r.5855_5856insa c.? p.? Ins 3'UTR variant I 151375970 151375977 1 24 478.819 - - 6 1 1 POGZ|CCDS997.1|r.5855_5856insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 POGZ|CCDS997.1|r.5855_5856insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 17 14 17 14 0 0 ./. 7 2 7 3 50 31 51 33 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751502 1 151492753 GC G 360 PASS CGN CCDS999.1 r.? - - Del intronic D 151492753 151492761 1 15 321.621 - - 7 1 1 CGN|CCDS999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CGN|CCDS999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 4 2 5 2 26 19 26 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751512 1 151515961 CT C 300 PASS CGN CCDS999.1 r.? - - Del downstream D 151515961 151515967 1 12 269.021 - - 5 1 1 CGN|CCDS999.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TUFT1|CCDS1000.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 5 2 44 23 44 23 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751550 1 151605939 A AT 480 PASS SNX27 CCDS1001.1 r.? - - Ins intronic I 151605939 151605946 1 24 425.617 - - 6 1 1 SNX27|CCDS1001.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNX27|CCDS1001.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 5 3 5 7 32 35 32 35 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751564 1 151634966 CT C 540 PASS SNX27 CCDS1001.1 r.? - - Del intronic D 151634966 151634976 1 24 480.625 - - 9 1 1 SNX27|CCDS1001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX27|CCDS1001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 7 2 7 22 26 22 26 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751579 1 151699601 CA C 780 PASS C1orf230 ENST00000326413 r.? - - Del intronic D 151699601 151699611 1 56 691.025 - - 9 1 1 C1orf230|ENST00000326413|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf230|ENST00000326413|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 6 8 7 35 34 35 34 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751707 1 152023717 A ATG 300 PASS - - - - - Ins - I 152023717 152023729 2 12 263 - - 5 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 2 4 3 38 28 38 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759751864 1 152623448 TA T 300 PASS - - - - - Del - D 152623448 152623455 1 12 269.021 - - 6 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 2 3 19 23 19 23 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752087 1 153481468 CA C 420 PASS - - - - - Del - D 153481468 153481478 1 18 375.425 - - 9 1 - - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 5 3 6 24 33 24 33 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752094 1 153520780 TC T 300 PASS S100A3 CCDS1043.1 r.? - - Del intronic D 153520780 153520787 1 10 269.021 - - 6 1 1 S100A3|CCDS1043.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 S100A3|CCDS1043.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 1 4 3 26 12 26 12 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752098 1 153528506 G GA 478 PASS - - - - - Ins - I 153528506 153528516 1 30 476.411 - - 9 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 4 5 4 31 34 31 34 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752185 1 153700589 T TC 660 PASS INTS3 CCDS1052.1 r.47_48insc c.? p.? Ins 5'UTR variant I 153700589 153700594 1 36 571.376 - - 4 1 1 INTS3|CCDS1052.1|r.47_48insc|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 INTS3|CCDS1052.1|r.47_48insc|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 6 9 6 9 0 0 ./. 8 3 9 4 27 23 28 23 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752242 1 153816690 GA G 269 PASS GATAD2B CCDS1054.1 r.? - - Del intronic D 153816690 153816700 1 12 269.021 - - 9 1 1 GATAD2B|CCDS1054.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GATAD2B|CCDS1054.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 2 3 3 17 42 17 42 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752291 1 153916852 G GC 300 PASS DENND4B CCDS44228.1 r.399_400insg c.? p.? Ins 5'UTR variant I 153916852 153916861 1 12 266.01 - - 8 1 1 DENND4B|CCDS44228.1|r.399_400insg|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 DENND4B|CCDS44228.1|r.399_400insg|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 8 17 8 17 0 0 ./. 2 3 4 3 33 37 33 39 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752313 1 153966378 AT A 329 PASS NUP210L CCDS41399.1 r.? - - Del intronic D 153966378 153966388 1 16 320.417 - - 9 1 1 NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 3 3 3 29 33 29 33 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752318 1 153973259 TG T 540 PASS NUP210L CCDS41399.1 r.? - - Del intronic D 153973259 153973266 1 28 484.237 - - 6 1 1 NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 20 17 20 0 0 ./. 3 6 4 5 33 41 33 41 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752399 1 154108497 TA T 360 PASS NUP210L CCDS41399.1 r.? - - Del intronic D 154108497 154108499 1 16 322.825 - - 1 1 1 NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 3 3 3 19 26 19 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752431 1 154172347 G GT 360 PASS C1orf189 CCDS30876.1 r.? - - Ins intronic I 154172347 154172356 1 15 319.213 - - 8 1 1 C1orf189|CCDS30876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C1orf189|CCDS30876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 2 4 4 23 42 23 42 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752439 1 154187060 TA T 420 PASS C1orf43 CCDS41404.1 r.? - - Del intronic D 154187060 154187068 1 20 376.629 - - 7 1 1 C1orf43|CCDS41404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf43|CCDS41404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 8 20 8 0 0 ./. 3 4 4 5 38 34 38 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752537 1 154381244 CAA C 480 PASS IL6R CCDS1067.1 r.? - - Del intronic D 154381244 154381249 2 21 429.229 - - 4 1 1 IL6R|CCDS1067.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL6R|CCDS1067.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 2 6 5 8 32 17 32 17 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752559 1 154427396 C CT 360 PASS IL6R CCDS1067.1 r.? - - Ins intronic I 154427396 154427406 1 16 319.213 - - 9 1 1 IL6R|CCDS1067.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL6R|CCDS1067.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 5 4 43 30 44 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752659 1 154621950 TA T 420 PASS - - - - - Del - D 154621950 154621960 1 20 376.629 - - 9 1 1 - - ./. 0 0 0 0 16 2 16 2 0 0 ./. 4 3 4 4 16 29 16 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752673 1 154660485 C CCT 420 PASS - - - - - Ins - I 154660485 154660498 2 18 367.598 - - 6 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 2 5 4 6 22 37 22 37 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752706 1 154749414 AC A 420 PASS KCNN3 CCDS30880.1 r.? - - Del intronic D 154749414 154749421 1 20 376.629 - - 6 1 1 KCNN3|CCDS30880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNN3|CCDS30880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 3 4 7 6 24 27 24 27 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752718 1 154784501 GC G 365 PASS KCNN3 CCDS30880.1 r.? - - Del intronic D 154784501 154784508 1 18 376.629 - - 6 1 1 KCNN3|CCDS30880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNN3|CCDS30880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 5 3 5 25 35 25 35 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752796 1 155053500 T TC 420 PASS EFNA3 CCDS1090.1 r.? - - Ins intronic I 155053500 155053506 1 18 356.159 - - 5 1 1 EFNA3|CCDS1090.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EFNA3|CCDS1090.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 5 2 8 3 46 39 46 40 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752861 1 155210259 G GA 329 PASS GBA CCDS1102.1 r.? - - Ins intronic I 155210259 155210268 1 15 316.804 - - 8 1 1 GBA|CCDS1102.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GBA|CCDS1102.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 4 6 4 0 0 ./. 4 2 8 2 33 32 33 32 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752887 1 155304572 T TA 300 PASS ASH1L CCDS1113.2 r.? - - Ins downstream I 155304572 155304581 1 10 264.806 - - 8 1 1 ASH1L|CCDS1113.2|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ASH1L|CCDS1113.2|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 12 13 12 0 0 ./. 4 1 5 1 53 21 53 21 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759752954 1 155418136 TTTG T 269 PASS ASH1L CCDS1113.2 r.? - - Del intronic D 155418136 155418162 3 12 267.817 - - 8 1 - ASH1L|CCDS1113.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASH1L|CCDS1113.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 3 3 36 26 36 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753055 1 155635069 A AT 300 PASS YY1AP1 CCDS1116.1 r.? - - Ins intronic I 155635069 155635078 1 10 264.806 - - 8 1 1 YY1AP1|CCDS1116.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 YY1AP1|CCDS1116.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 4 0 5 21 33 21 33 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753080 1 155688319 CA C 300 PASS DAP3 CCDS1120.1 r.? - - Del intronic D 155688319 155688329 1 6 268.419 - - 9 1 1 DAP3|CCDS1120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAP3|CCDS1120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 0 5 0 6 9 39 9 39 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753088 1 155698985 GTC G 360 PASS DAP3 CCDS1120.1 r.? - - Del intronic D 155698985 155698992 2 15 322.825 - - 3 1 1 DAP3|CCDS1120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAP3|CCDS1120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 4 2 36 25 36 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753186 1 155851481 G GT 420 PASS SYT11 CCDS1122.1 r.1731_1732insu c.? p.? Ins 3'UTR variant I 155851481 155851491 1 20 368.802 - - 9 1 1 SYT11|CCDS1122.1|r.1731_1732insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 SYT11|CCDS1122.1|r.1731_1732insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 6 14 6 14 0 0 ./. 4 3 4 5 21 35 21 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753193 1 155862972 CT C 420 PASS RIT1 CCDS1123.1 r.? - - Del downstream D 155862972 155862981 1 18 376.629 - - 8 1 1 RIT1|CCDS1123.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RIT1|CCDS1123.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 5 8 5 0 0 ./. 5 2 7 3 34 28 34 28 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753201 1 155876030 G GA 480 PASS RIT1 CCDS1123.1 r.? - - Ins intronic I 155876030 155876040 1 21 424.413 - - 9 1 1 RIT1|CCDS1123.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RIT1|CCDS1123.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 24 12 25 0 0 ./. 6 2 8 4 31 28 31 29 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753235 1 155942667 AT A 420 PASS ARHGEF2 CCDS1125.1 r.? - - Del intronic D 155942667 155942676 1 14 376.629 - - 8 1 1 ARHGEF2|CCDS1125.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ARHGEF2|CCDS1125.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 6 1 9 2 37 21 37 21 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753304 1 156124051 CA C 540 PASS SEMA4A CCDS1132.1 r.? - - Del intronic D 156124051 156124059 1 28 484.237 - - 7 1 1 SEMA4A|CCDS1132.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SEMA4A|CCDS1132.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 3 6 3 31 30 31 30 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753342 1 156197003 AT A 300 PASS PMF1 CCDS30886.1 r.? - - Del intronic D 156197003 156197013 1 6 269.021 - - 9 1 1 PMF1|CCDS30886.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PMF1|CCDS30886.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 10 3 14 0 0 ./. 0 5 0 6 3 30 3 32 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753381 1 156277433 TA T 300 PASS CCT3 CCDS44244.1 r.? - - Del downstream D 156277433 156277442 1 6 267.817 - - 8 1 1 CCT3|CCDS44244.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CCT3|CCDS44244.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 8 7 8 0 0 ./. 0 5 1 6 20 28 20 28 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753388 1 156284534 AC A 269 PASS CCT3 CCDS44244.1 r.? - - Del intronic D 156284534 156284537 1 10 269.021 - - 2 1 1 CCT3|CCDS44244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCT3|CCDS44244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 1 4 2 33 26 33 26 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753461 1 156434240 TG T 360 PASS MEF2D CCDS1143.1 r.5243delC c.? p.? Del 3'UTR variant D 156434240 156434250 1 12 322.825 - - 9 1 1 MEF2D|CCDS1143.1|r.5243delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 MEF2D|CCDS1143.1|r.5243delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 3 8 3 8 0 0 ./. 5 1 5 1 22 8 22 8 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753579 1 156694022 AG A 300 PASS ISG20L2 CCDS1153.1 r.1648delC c.865delC p.L289fs*15 Del frameshift D 156694022 156694031 1 10 267.215 - - 8 1 1 ISG20L2|CCDS1153.1|r.1648delC|c.865delC|p.L289fs*15|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ISG20L2|CCDS1153.1|r.1648delC|c.865delC|p.L289fs*15|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 6 5 6 5 0 0 ./. 1 4 3 5 24 22 24 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753619 1 156778958 CCTT C 269 PASS SH2D2A CCDS1159.1 r.? - - Del intronic D 156778958 156778965 3 12 269.021 - - 2 1 1 SH2D2A|CCDS1159.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH2D2A|CCDS1159.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 4 5 35 22 35 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753820 1 157394155 GT G 360 PASS - - - - - Del - D 157394155 157394164 1 15 322.825 - - 8 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 2 4 4 31 35 31 35 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759753881 1 157631886 GT G 360 PASS - - - - - Del - D 157631886 157631896 1 12 322.825 - - 9 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 1 5 1 7 26 27 26 27 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754069 1 158222926 CT C 389 PASS CD1A CCDS1174.1 r.? - - Del upstream D 158222926 158222936 1 20 376.629 - - 9 1 1 CD1A|CCDS1174.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CD1A|CCDS1174.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 3 5 4 25 24 25 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754253 1 158804868 TA T 540 PASS MNDA CCDS1177.1 r.? - - Del intronic D 158804868 158804875 1 24 484.237 - - 6 1 1 MNDA|CCDS1177.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MNDA|CCDS1177.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 23 8 23 0 0 ./. 7 2 9 4 21 26 21 26 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754302 1 158906187 CA C 293 PASS PYHIN1 CCDS1178.1 r.? - - Del intronic D 158906187 158906196 1 10 269.021 - - 8 1 1 PYHIN1|CCDS1178.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PYHIN1|CCDS1178.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 1 5 1 31 6 31 6 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754358 1 159057668 CT C 329 PASS AIM2 ENST00000411768 r.? - - Del intronic D 159057668 159057676 1 16 322.825 - - 7 1 1 AIM2|ENST00000411768|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 AIM2|ENST00000411768|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 3 4 3 37 17 37 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754413 1 159307873 AT A 480 PASS - - - - - Del - D 159307873 159307883 1 25 425.015 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 4 7 5 29 24 29 24 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754421 1 159344988 GA G 360 PASS OR10J1 ENST00000328408 r.? - - Del intronic D 159344988 159344998 1 12 322.825 - - 9 1 1 OR10J1|ENST00000328408|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OR10J1|ENST00000328408|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 5 1 6 1 34 20 34 20 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754467 1 159492654 AT A 420 PASS - - - - - Del - D 159492654 159492662 1 18 376.629 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 2 7 4 30 25 30 25 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754484 1 159571007 GT G 360 PASS - - - - - Del - D 159571007 159571016 1 16 322.825 - - 8 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 3 4 4 32 22 32 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754492 1 159618887 CA C 360 PASS - - - - - Del - D 159618887 159618897 1 15 322.825 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 4 2 5 25 13 25 13 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754574 1 159899921 GAGA G 389 PASS IGSF9 CCDS44254.1 r.? - - Del intronic D 159899921 159899927 3 18 376.027 - - 1 1 1 IGSF9|CCDS44254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGSF9|CCDS44254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 5 3 7 24 34 24 34 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754648 1 160127510 CAG C 300 PASS ATP1A4 CCDS1197.1 r.? - - Del intronic D 160127510 160127523 2 12 269.021 - - 6 1 1 ATP1A4|CCDS1197.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP1A4|CCDS1197.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 3 2 3 30 25 30 25 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754664 1 160184618 TAGG T 449 PASS PEA15 CCDS1199.1 r.1924_1926delAGG c.? p.? Del 3'UTR variant D 160184618 160184624 3 21 428.627 - - 1 1 1 PEA15|CCDS1199.1|r.1924_1926delAGG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PEA15|CCDS1199.1|r.1924_1926delAGG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 6 2 6 20 28 20 28 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754730 1 160327877 C CA 300 PASS NCSTN CCDS1203.1 r.? - - Ins intronic I 160327877 160327884 1 6 266.01 - - 6 1 1 NCSTN|CCDS1203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NCSTN|CCDS1203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 0 5 0 7 21 37 21 37 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754731 1 160332510 AG A 300 PASS NCSTN CCDS1203.1 r.? - - Del downstream D 160332510 160332517 1 10 267.817 - - 6 1 1 NCSTN|CCDS1203.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NHLH1|CCDS1204.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 3 9 3 9 0 0 ./. 1 4 1 4 23 25 23 25 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754882 1 160783792 AG A 720 PASS LY9 CCDS30916.1 r.? - - Del intronic D 160783792 160783798 1 40 645.048 - - 5 1 1 LY9|CCDS30916.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LY9|CCDS30916.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 9 3 10 4 41 35 41 35 10 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754926 1 160884515 G GA 540 PASS - - - - - Ins - I 160884515 160884522 1 24 478.819 - - 6 1 1 - - ./. 0 0 0 0 5 24 5 25 0 0 ./. 2 7 4 10 35 32 35 33 4 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754941 1 160907120 C CTT 389 PASS - - - - - Ins - I 160907120 160907129 2 18 368.2 - - 8 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 2 5 5 7 29 44 31 44 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759754971 1 160951745 GA G 300 PASS - - - - - Del - D 160951745 160951755 1 12 269.021 - - 9 1 - - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 2 4 3 18 33 18 33 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755028 1 161061526 A AC 420 PASS PVRL4 CCDS1216.1 r.? - - Ins upstream I 161061526 161061531 1 20 372.415 - - 4 1 1 PVRL4|CCDS1216.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 PVRL4|CCDS1216.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 3 5 4 35 24 35 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755069 1 161174015 A AT 300 PASS NDUFS2 CCDS1224.1 r.? - - Ins intronic I 161174015 161174024 1 10 266.01 - - 8 1 1 NDUFS2|CCDS1224.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NDUFS2|CCDS1224.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 1 4 1 38 25 39 25 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755090 1 161212090 GA G 420 PASS NR1I3 CCDS1228.1 r.? - - Del upstream D 161212090 161212100 1 14 376.629 - - 9 1 1 NR1I3|CCDS1228.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 NR1I3|CCDS1228.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 6 3 7 32 27 32 27 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755107 1 161248213 C CT 480 PASS PCP4L1 ENST00000504449 r.? - - Ins intronic I 161248213 161248222 1 24 425.617 - - 8 1 1 PCP4L1|ENST00000504449|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCP4L1|ENST00000504449|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 16 0 0 ./. 3 5 5 7 26 32 26 32 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755149 1 161353166 CT C 420 PASS - - - - - Del - D 161353166 161353170 1 18 376.629 - - 3 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 2 6 4 39 28 39 28 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755172 1 161400294 TA T 360 PASS - - - - - Del - D 161400294 161400303 1 15 322.825 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 2 5 2 28 34 28 34 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755360 1 162035358 ATTAC A 358 PASS NOS1AP CCDS1237.1 r.? - - Del upstream D 162035358 162035365 4 8 376.629 - - 1 1 1 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 18 12 18 12 0 0 ./. 0 7 1 8 13 34 13 34 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755389 1 162100618 T TA 360 PASS NOS1AP CCDS1237.1 r.? - - Ins intronic I 162100618 162100625 1 15 319.213 - - 6 1 1 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 10 0 0 ./. 4 2 5 3 40 36 40 36 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755399 1 162133010 AT A 300 PASS NOS1AP CCDS1237.1 r.? - - Del intronic D 162133010 162133020 1 12 269.021 - - 9 1 1 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 2 4 2 29 25 29 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755454 1 162324763 CT C 480 PASS NOS1AP CCDS1237.1 r.? - - Del intronic D 162324763 162324771 1 24 430.433 - - 7 1 1 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 3 7 4 36 23 36 23 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755657 1 162757469 AT A 267 PASS HSD17B7 CCDS1242.1 r.? - - Del upstream D 162757469 162757477 1 15 322.825 - - 7 1 1 HSD17B7|CCDS1242.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HSD17B7|CCDS1242.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 0 12 0 12 0 0 ./. 2 4 2 4 13 20 13 20 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755665 1 162766659 G GT 392 PASS HSD17B7 CCDS1242.1 r.? - - Ins intronic I 162766659 162766666 1 20 372.415 - - 6 1 1 HSD17B7|CCDS1242.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HSD17B7|CCDS1242.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 4 5 4 35 33 35 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755769 1 163031670 CT C 300 PASS - - - - - Del - D 163031670 163031678 1 6 269.021 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 0 5 1 5 21 30 21 30 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755843 1 163265701 CT C 569 PASS - - - - - Del - D 163265701 163265711 1 32 538.042 - - 9 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 7 6 7 36 31 36 31 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755953 1 163593062 A AT 300 PASS - - - - - Ins - I 163593062 163593072 1 12 263.602 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 6 5 47 32 47 32 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759755989 1 163842716 AT A 360 PASS - - - - - Del - D 163842716 163842718 1 12 321.019 - - 1 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 5 1 5 3 23 14 23 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756107 1 164283080 TG T 300 PASS - - - - - Del - D 164283080 164283089 1 12 269.021 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 4 3 23 26 23 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756110 1 164288331 AT A 269 PASS - - - - - Del - D 164288331 164288338 1 10 269.021 - - 6 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 4 1 7 19 28 19 28 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756137 1 164378849 AT A 300 PASS - - - - - Del - D 164378849 164378855 1 12 269.021 - - 5 1 1 - - ./. 0 0 0 0 23 12 23 12 0 0 ./. 3 2 4 3 20 27 20 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756208 1 164561259 ATG A 420 PASS PBX1 CCDS1246.1 r.? - - Del intronic D 164561259 164561264 2 18 376.629 - - 2 1 1 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 2 5 2 6 22 37 22 37 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756261 1 164679643 CT C 300 PASS PBX1 CCDS1246.1 r.? - - Del intronic D 164679643 164679652 1 12 269.021 - - 8 1 1 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 3 2 4 3 27 25 27 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756263 1 164683361 C CT 360 PASS PBX1 CCDS1246.1 r.? - - Ins intronic I 164683361 164683368 1 15 319.213 - - 6 1 1 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 15 0 0 ./. 4 2 5 4 29 36 29 38 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756273 1 164723925 CGT C 360 PASS PBX1 CCDS1246.1 r.? - - Del intronic D 164723925 164723941 2 7 322.825 - - 7 1 - PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 0 6 3 8 20 33 20 33 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756432 1 165231984 G GA 300 PASS LMX1A CCDS1247.1 r.? - - Ins intronic I 165231984 165231994 1 6 262.398 - - 9 1 1 LMX1A|CCDS1247.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LMX1A|CCDS1247.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 15 23 15 0 0 ./. 0 5 0 8 17 41 18 41 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756611 1 165698728 AT A 426 PASS TMCO1 CCDS1251.1 r.? - - Del intronic D 165698728 165698737 1 21 430.433 - - 8 1 1 TMCO1|CCDS1251.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMCO1|CCDS1251.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 6 2 8 4 36 19 36 19 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756619 1 165705303 C CA 420 PASS TMCO1 CCDS1251.1 r.? - - Ins intronic I 165705303 165705312 1 20 371.813 - - 8 1 1 TMCO1|CCDS1251.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMCO1|CCDS1251.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 3 5 4 28 28 28 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756637 1 165722885 CA C 360 PASS TMCO1 CCDS1251.1 r.? - - Del intronic D 165722885 165722895 1 15 322.825 - - 9 1 1 TMCO1|CCDS1251.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMCO1|CCDS1251.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 4 2 6 17 32 17 32 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756659 1 165793300 GCAGA G 540 PASS UCK2 CCDS1252.1 r.? - - Del upstream D 165793300 165793307 4 30 484.237 - - 1 1 1 UCK2|CCDS1252.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 UCK2|CCDS1252.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 5 4 5 26 30 26 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756708 1 165916383 TA T 360 PASS - - - - - Del - D 165916383 165916392 1 12 320.417 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 1 5 1 32 14 32 14 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756831 1 166375507 CT C 300 PASS - - - - - Del - D 166375507 166375517 1 6 269.021 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 0 7 1 33 21 33 21 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756922 1 166668055 GA G 300 PASS - - - - - Del - D 166668055 166668064 1 12 269.021 - - 8 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 2 5 2 25 15 25 15 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756959 1 166754540 CT C 314 PASS - - - - - Del - D 166754540 166754549 1 16 321.621 - - 8 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 3 3 3 4 37 38 37 38 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759756992 1 166855254 CT C 300 PASS - - - - - Del - D 166855254 166855264 1 12 268.419 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 3 3 5 33 31 33 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757041 1 167099097 GA G 300 PASS DUSP27 CCDS30932.1 r.? - - Del downstream D 167099097 167099103 1 12 269.021 - - 5 1 1 DUSP27|CCDS30932.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DUSP27|CCDS30932.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 5 3 31 27 31 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757074 1 167170951 TA T 360 PASS - - - - - Del - D 167170951 167170960 1 15 322.223 - - 8 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 4 3 4 27 24 27 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757114 1 167250766 CA C 300 PASS POU2F1 CCDS1259.1 r.? - - Del intronic D 167250766 167250774 1 10 268.419 - - 7 1 1 POU2F1|CCDS1259.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 POU2F1|CCDS1259.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 1 6 2 37 19 37 19 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757183 1 167438463 GC G 360 PASS CD247 CCDS1260.1 r.? - - Del intronic D 167438463 167438471 1 16 322.825 - - 7 1 1 CD247|CCDS1260.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD247|CCDS1260.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 3 3 4 32 28 32 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757205 1 167499963 CA C 360 PASS - - - - - Del - D 167499963 167499972 1 15 322.825 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 4 3 4 20 31 20 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757228 1 167584440 CA C 600 PASS - - - - - Del - D 167584440 167584450 1 27 535.031 - - 9 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 2 8 4 8 25 36 25 36 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757262 1 167651193 TC T 360 PASS RCSD1 CCDS1263.1 r.? - - Del intronic D 167651193 167651199 1 12 321.621 - - 5 1 1 RCSD1|CCDS1263.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RCSD1|CCDS1263.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 1 5 3 5 30 22 30 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757354 1 167820904 CA C 277 PASS ADCY10 CCDS1265.1 r.? - - Del intronic D 167820904 167820913 1 12 269.021 - - 8 1 1 ADCY10|CCDS1265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY10|CCDS1265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 3 4 15 25 15 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757384 1 167910806 GT G 300 PASS DCAF6 CCDS1267.2 r.? - - Del intronic D 167910806 167910815 1 10 268.419 - - 8 1 1 DCAF6|CCDS1267.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCAF6|CCDS1267.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 4 1 5 24 19 24 19 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757534 1 168361948 GGA G 420 PASS - - - - - Del - D 168361948 168361959 2 14 376.629 - - 5 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 6 2 6 39 40 39 40 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757571 1 168492843 AT A 420 PASS - - - - - Del - D 168492843 168492846 1 18 376.629 - - 2 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 5 2 8 6 41 6 41 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757593 1 168585936 GA G 420 PASS - - - - - Del - D 168585936 168585945 1 20 375.425 - - 8 1 1 - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 3 4 4 6 20 28 20 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757656 1 168778302 AT A 660 PASS - - - - - Del - D 168778302 168778309 1 42 591.846 - - 6 1 1 - - ./. 0 0 0 0 20 8 20 8 0 0 ./. 5 6 5 7 37 33 37 33 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757689 1 168904721 AT A 540 PASS - - - - - Del - D 168904721 168904731 1 28 484.237 - - 9 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 6 3 8 4 20 29 20 29 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759757835 1 169369845 AAT A 540 PASS BLZF1 CCDS1278.1 r.? - - Del downstream D 169369845 169369850 2 30 484.237 - - 2 1 1 BLZF1|CCDS1278.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C1orf114|CCDS1279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 24 8 24 0 0 ./. 5 4 6 4 22 29 22 29 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758024 1 169879263 TA T 300 PASS - - - - - Del - D 169879263 169879271 1 10 269.021 - - 7 1 1 - - ./. 0 0 0 0 14 4 14 4 0 0 ./. 4 1 4 6 36 21 36 21 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758030 1 169881909 G GT 389 PASS - - - - - Ins - I 169881909 169881918 1 18 368.2 - - 8 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 5 2 9 2 37 27 39 29 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758080 1 170116610 C CT 360 PASS METTL11B CCDS44275.1 r.? - - Ins intronic I 170116610 170116619 1 7 319.213 - - 8 1 1 METTL11B|CCDS44275.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 METTL11B|CCDS44275.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 6 0 7 2 30 34 31 34 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758154 1 170335656 AT A 300 PASS - - - - - Del - D 170335656 170335666 1 10 269.021 - - 9 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 4 1 4 2 27 19 27 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758184 1 170421342 C CGT 300 PASS - - - - - Ins - I 170421342 170421361 2 10 263 - - 9 1 1 - - ./. 0 0 0 0 19 8 20 8 0 0 ./. 1 4 2 4 43 25 44 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758190 1 170443569 CA C 480 PASS - - - - - Del - D 170443569 170443576 1 21 429.831 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 2 6 2 25 25 25 25 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758218 1 170514681 CA C 420 PASS GORAB CCDS1289.1 r.? - - Del intronic D 170514681 170514689 1 14 376.629 - - 7 1 1 GORAB|CCDS1289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GORAB|ENST00000367762|r.1451delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 1 6 1 25 27 25 27 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758224 1 170532199 ATCT A 269 PASS - - - - - Del - D 170532199 170532211 3 12 269.021 - - 3 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 4 3 29 25 29 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758227 1 170533774 CA C 360 PASS - - - - - Del - D 170533774 170533782 1 16 322.825 - - 7 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 3 5 3 26 28 26 28 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758276 1 170647431 AT A 420 PASS PRRX1 CCDS1291.1 r.? - - Del intronic D 170647431 170647439 1 18 376.629 - - 7 1 1 PRRX1|CCDS1291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRRX1|CCDS1291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 5 3 5 28 18 28 18 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758530 1 171522234 CT C 290 PASS BAT2L2 ENST00000392078 r.? - - Del intronic D 171522234 171522242 1 12 269.021 - - 7 1 1 BAT2L2|ENST00000392078|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAT2L2|ENST00000392078|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 6 2 24 33 24 33 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758649 1 171789392 TG T 420 PASS - - - - - Del - D 171789392 171789399 1 14 376.629 - - 6 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 1 6 1 40 20 40 20 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758661 1 171813637 G GT 420 PASS DNM3 CCDS44276.1 r.? - - Ins intronic I 171813637 171813645 1 20 371.211 - - 7 1 1 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 4 4 4 31 30 31 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758672 1 171839633 CA C 300 PASS DNM3 CCDS44276.1 r.? - - Del intronic D 171839633 171839643 1 6 269.021 - - 9 1 - DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 0 8 0 45 10 45 10 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758806 1 172262954 GA G 540 PASS DNM3 CCDS44276.1 r.? - - Del intronic D 172262954 172262964 1 18 484.237 - - 9 1 1 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 8 1 8 1 38 33 38 33 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758821 1 172312947 CT C 420 PASS DNM3 CCDS44276.1 r.? - - Del intronic D 172312947 172312956 1 20 376.629 - - 8 1 1 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 19 8 19 0 0 ./. 3 4 6 4 36 30 36 30 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759758976 1 172765279 CT C 660 PASS - - - - - Del - D 172765279 172765288 1 42 587.631 - - 8 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 6 5 6 5 18 35 18 35 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759036 1 172999343 CT C 300 PASS - - - - - Del - D 172999343 172999353 1 12 264.806 - - 9 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 3 3 3 30 27 30 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759090 1 173235459 CAT C 300 PASS AL022310.2 ENST00000421168 r.? - - Del intronic D 173235459 173235473 2 10 269.021 - - 6 1 1 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 1 5 1 28 26 28 26 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759153 1 173449289 TA T 420 PASS PRDX6 CCDS1307.1 r.? - - Del intronic D 173449289 173449299 1 20 376.629 - - 9 1 1 PRDX6|CCDS1307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRDX6|CCDS1307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 3 5 5 26 40 26 40 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759174 1 173536554 CCTT C 298 PASS SLC9A11 CCDS1308.1 r.? - - Del intronic D 173536554 173536561 3 16 322.825 - - 2 1 1 SLC9A11|CCDS1308.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC9A11|CCDS1308.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 3 4 4 31 31 31 31 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759211 1 173660159 TC T 420 PASS - - - - - Del - D 173660159 173660167 1 20 376.629 - - 7 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 3 5 4 24 34 24 34 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759220 1 173701457 T TA 360 PASS KLHL20 CCDS1310.1 r.? - - Ins intronic I 173701457 173701466 1 15 319.213 - - 8 1 1 KLHL20|CCDS1310.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KLHL20|CCDS1310.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 2 4 4 24 27 24 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759270 1 173809377 CT C 300 PASS DARS2 CCDS1311.1 r.? - - Del intronic D 173809377 173809385 1 12 268.419 - - 7 1 1 DARS2|CCDS1311.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DARS2|CCDS1311.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 8 21 8 0 0 ./. 3 2 6 4 27 38 27 38 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759553 1 174567863 C CT 269 PASS RABGAP1L CCDS1314.1 r.? - - Ins intronic I 174567863 174567871 1 12 266.01 - - 7 1 1 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 14 0 0 ./. 3 2 3 2 24 15 24 15 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759835 1 175385980 TA T 329 PASS TNR CCDS1318.1 r.? - - Del intronic D 175385980 175385986 1 15 322.223 - - 5 1 1 TNR|CCDS1318.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TNR|CCDS1318.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 2 5 3 34 27 34 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759839 1 175387248 CA C 600 PASS TNR CCDS1318.1 r.? - - Del intronic D 175387248 175387253 1 36 536.837 - - 4 1 1 TNR|CCDS1318.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TNR|CCDS1318.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 5 8 6 28 27 28 27 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759922 1 175786323 G GT 360 PASS - - - - - Ins - I 175786323 175786332 1 7 310.784 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 6 0 7 0 30 15 30 16 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759966 1 175944553 CT C 360 PASS RFWD2 CCDS30944.1 r.? - - Del intronic D 175944553 175944562 1 15 322.825 - - 8 1 1 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 4 2 33 27 33 27 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759759994 1 176035660 AT A 480 PASS RFWD2 CCDS30944.1 r.? - - Del intronic D 176035660 176035667 1 25 430.433 - - 6 1 1 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 4 4 4 4 42 24 42 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760136 1 176412236 ACT A 300 PASS - - - - - Del - D 176412236 176412241 2 12 269.021 - - 2 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 2 3 3 6 19 29 19 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760202 1 176634724 AT A 540 PASS PAPPA2 CCDS41438.1 r.? - - Del intronic D 176634724 176634733 1 28 484.237 - - 8 1 1 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 6 3 8 3 32 31 32 31 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760224 1 176694926 CT C 600 PASS PAPPA2 CCDS41438.1 r.? - - Del intronic D 176694926 176694935 1 35 535.633 - - 8 1 1 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 6 4 6 7 34 26 34 26 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760269 1 176828225 CA C 660 PASS ASTN1 CCDS1319.1 r.? - - Del downstream D 176828225 176828231 1 42 591.846 - - 5 1 1 ASTN1|CCDS1319.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ASTN1|ENST00000367657|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 6 5 7 6 32 41 32 41 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760318 1 177108307 TA T 420 PASS ASTN1 CCDS1319.1 r.? - - Del intronic D 177108307 177108316 1 20 376.629 - - 8 1 1 ASTN1|CCDS1319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASTN1|CCDS1319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 3 4 3 5 20 34 20 34 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760358 1 177283702 CA C 480 PASS - - - - - Del - D 177283702 177283712 1 24 429.831 - - 9 1 1 - - ./. 0 0 0 0 6 24 6 24 0 0 ./. 5 3 5 4 24 40 24 40 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760386 1 177429649 A AT 480 PASS - - - - - Ins - I 177429649 177429657 1 24 425.617 - - 7 1 1 - - ./. 0 0 0 0 15 4 15 4 0 0 ./. 5 3 5 4 32 37 32 37 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760473 1 177861966 G GA 300 PASS - - - - - Ins - I 177861966 177861973 1 10 265.408 - - 6 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 4 2 7 47 39 47 39 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760494 1 177937122 ACT A 360 PASS SEC16B CCDS44281.1 r.83_84delAG c.? p.? Del 5'UTR variant D 177937122 177937129 2 15 322.825 - - 3 1 1 SEC16B|CCDS44281.1|r.83_84delAG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 SEC16B|CCDS44281.1|r.83_84delAG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 2 6 2 21 37 21 37 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760562 1 178135101 TC T 360 PASS RASAL2 CCDS1321.1 r.? - - Del intronic D 178135101 178135109 1 12 322.825 - - 7 1 1 RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 1 5 1 7 35 41 35 41 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760602 1 178255553 CT C 300 PASS RASAL2 CCDS1321.1 r.? - - Del intronic D 178255553 178255563 1 10 268.419 - - 9 1 1 RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 1 6 3 29 17 29 17 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760611 1 178272151 CA C 389 PASS RASAL2 CCDS1321.1 r.? - - Del intronic D 178272151 178272161 1 18 376.629 - - 9 1 1 RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 5 2 7 25 25 25 25 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760794 1 178786187 AT A 298 PASS RALGPS2 CCDS1325.1 r.? - - Del intronic D 178786187 178786196 1 12 322.825 - - 8 1 1 RALGPS2|CCDS1325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RALGPS2|CCDS1325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 1 5 2 5 14 22 14 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760863 1 178976476 CA C 480 PASS - - - - - Del - D 178976476 178976486 1 24 430.433 - - 9 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 3 7 3 23 21 23 21 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760943 1 179163045 A AT 360 PASS ABL2 CCDS44283.1 r.? - - Ins intronic I 179163045 179163053 1 16 318.008 - - 7 1 1 ABL2|CCDS44283.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABL2|CCDS44283.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 3 3 6 4 24 33 25 33 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759760963 1 179188537 GA G 420 PASS ABL2 CCDS44283.1 r.? - - Del intronic D 179188537 179188547 1 18 376.629 - - 9 1 1 ABL2|CCDS44283.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABL2|CCDS44283.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 2 6 4 24 21 24 21 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761156 1 179509525 CT C 420 PASS C1orf125 CCDS30948.1 r.? - - Del intronic D 179509525 179509534 1 20 376.629 - - 8 1 1 C1orf125|CCDS30948.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf125|CCDS30948.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 3 4 4 30 27 30 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761199 1 179643632 G GT 300 PASS TDRD5 CCDS1332.1 r.? - - Ins intronic I 179643632 179643642 1 10 266.01 - - 9 1 1 TDRD5|CCDS1332.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TDRD5|CCDS1332.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 1 4 1 7 19 45 20 45 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761204 1 179654069 CT C 267 PASS TDRD5 CCDS1332.1 r.? - - Del intronic D 179654069 179654071 1 20 376.629 - - 1 1 1 TDRD5|CCDS1332.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TDRD5|CCDS1332.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 4 4 5 33 24 33 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761238 1 179723265 CT C 360 PASS FAM163A CCDS1333.1 r.? - - Del intronic D 179723265 179723275 1 15 322.825 - - 9 1 1 FAM163A|CCDS1333.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM163A|CCDS1333.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 4 2 4 34 30 34 30 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761273 1 179844101 TTC T 300 PASS TOR1AIP2 CCDS1334.1 r.? - - Del intronic D 179844101 179844117 2 10 269.021 - - 7 1 1 TOR1AIP2|CCDS1334.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TOR1AIP2|CCDS1334.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 1 4 3 6 32 36 32 36 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761304 1 179903505 TG T 360 PASS - - - - - Del - D 179903505 179903510 1 15 322.825 - - 4 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 4 5 5 26 26 26 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761366 1 180077634 CA C 300 PASS CEP350 CCDS1336.1 r.? - - Del intronic D 180077634 180077644 1 12 267.215 - - 9 1 1 CEP350|CCDS1336.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CEP350|CCDS1336.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 4 4 22 29 22 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761460 1 180326691 GAAGA G 329 PASS ACBD6 CCDS1339.1 r.? - - Del intronic D 180326691 180326699 4 12 322.825 - - 1 1 1 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 1 7 2 33 17 33 17 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761469 1 180342234 TAATA T 540 PASS ACBD6 CCDS1339.1 r.? - - Del intronic D 180342234 180342245 4 30 484.237 - - 2 1 1 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 5 4 6 6 24 19 24 19 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761498 1 180400296 TG T 360 PASS ACBD6 CCDS1339.1 r.? - - Del intronic D 180400296 180400298 1 16 322.825 - - 1 1 1 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 3 4 3 20 21 20 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761519 1 180449844 TA T 480 PASS ACBD6 CCDS1339.1 r.? - - Del intronic D 180449844 180449853 1 21 429.831 - - 8 1 1 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 6 2 8 2 35 30 35 30 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761851 1 181360676 T TG 329 PASS - - - - - Ins - I 181360676 181360684 1 12 319.213 - - 7 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 5 1 5 2 27 23 27 23 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761852 1 181362601 C CT 300 PASS - - - - - Ins - I 181362601 181362610 1 10 262.398 - - 8 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 1 4 3 6 26 28 26 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761885 1 181449250 TA T 449 PASS CACNA1E ENST00000367573 r.? - - Del intronic D 181449250 181449260 1 25 430.433 - - 9 1 1 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 4 5 5 37 36 37 36 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761933 1 181665716 GA G 420 PASS CACNA1E ENST00000367573 r.? - - Del intronic D 181665716 181665723 1 20 376.629 - - 6 1 1 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 4 5 5 34 27 34 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759761996 1 181893019 GA G 300 PASS - - - - - Del - D 181893019 181893028 1 10 269.021 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 4 2 4 23 33 23 33 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762000 1 181917688 GA G 300 PASS - - - - - Del - D 181917688 181917694 1 12 269.021 - - 5 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 3 3 5 37 35 37 35 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762128 1 182300586 GA G 300 PASS - - - - - Del - D 182300586 182300594 1 12 268.419 - - 7 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 3 2 3 3 44 27 44 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762172 1 182413333 CT C 329 PASS - - - - - Del - D 182413333 182413343 1 15 320.417 - - 9 1 1 - - ./. 0 0 0 0 8 9 12 9 0 0 ./. 2 4 2 4 24 22 26 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762243 1 182594600 AT A 480 PASS - - - - - Del - D 182594600 182594607 1 24 427.423 - - 6 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 3 6 4 31 23 31 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762247 1 182619510 TAA T 509 PASS RGS8 CCDS41443.1 r.? - - Del intronic D 182619510 182619517 2 30 480.023 - - 6 1 1 RGS8|CCDS41443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS8|CCDS41443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 5 5 5 37 24 37 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762280 1 182736348 CA C 420 PASS - - - - - Del - D 182736348 182736358 1 20 375.425 - - 9 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 3 5 4 38 33 38 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762287 1 182751891 CA C 360 PASS - - - - - Del - D 182751891 182751901 1 15 322.825 - - 9 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 4 3 6 37 31 37 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762402 1 183036101 TA T 315 PASS LAMC1 CCDS1351.1 r.? - - Del intronic D 183036101 183036111 1 7 322.825 - - 9 1 1 LAMC1|CCDS1351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LAMC1|CCDS1351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 0 6 1 8 13 31 13 31 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762422 1 183075331 GA G 300 PASS LAMC1 CCDS1351.1 r.? - - Del intronic D 183075331 183075341 1 10 269.021 - - 9 1 1 LAMC1|CCDS1351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LAMC1|CCDS1351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 1 7 2 36 29 36 29 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762494 1 183224496 CT C 300 PASS NMNAT2 CCDS1353.1 r.? - - Del intronic D 183224496 183224506 1 12 269.021 - - 9 1 1 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 3 4 17 30 17 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762505 1 183249849 AT A 300 PASS NMNAT2 CCDS1353.1 r.? - - Del intronic D 183249849 183249859 1 10 265.408 - - 9 1 1 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 1 4 2 4 20 28 20 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762510 1 183267368 TA T 360 PASS NMNAT2 CCDS1353.1 r.? - - Del intronic D 183267368 183267376 1 15 322.825 - - 7 1 1 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 4 3 7 20 34 20 34 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762651 1 183692184 TG T 300 PASS RGL1 CCDS1359.1 r.? - - Del intronic D 183692184 183692192 1 10 269.021 - - 7 1 1 RGL1|CCDS1359.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RGL1|CCDS1359.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 1 4 2 20 21 20 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762844 1 184240886 TC T 269 PASS - - - - - Del - D 184240886 184240892 1 10 269.021 - - 5 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 1 4 1 4 18 25 18 25 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762914 1 184467522 TTCTC T 300 PASS C1orf21 CCDS1362.1 r.? - - Del intronic D 184467522 184467539 4 10 269.021 - - 8 1 1 C1orf21|CCDS1362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf21|CCDS1362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 1 7 4 42 29 42 29 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759762921 1 184490329 AT A 360 PASS C1orf21 CCDS1362.1 r.? - - Del intronic D 184490329 184490338 1 15 322.825 - - 8 1 1 C1orf21|CCDS1362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf21|CCDS1362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 2 4 2 31 22 31 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763003 1 184799627 GA G 300 PASS FAM129A CCDS1364.1 r.? - - Del intronic D 184799627 184799637 1 12 269.021 - - 9 1 1 FAM129A|CCDS1364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM129A|CCDS1364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 3 4 32 22 32 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763013 1 184842435 GA G 420 PASS FAM129A CCDS1364.1 r.? - - Del intronic D 184842435 184842442 1 18 376.629 - - 6 1 1 FAM129A|CCDS1364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM129A|CCDS1364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 2 5 4 5 35 25 35 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763066 1 184983696 CT C 300 PASS - - - - - Del - D 184983696 184983706 1 10 267.817 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 3 4 25 31 25 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763147 1 185200364 AT A 360 PASS C1orf26 CCDS1367.1 r.? - - Del intronic D 185200364 185200372 1 7 322.825 - - 7 1 1 C1orf26|CCDS1367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf26|CCDS1367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 0 6 0 6 10 27 10 27 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763216 1 185454957 GA G 480 PASS - - - - - Del - D 185454957 185454966 1 24 430.433 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 3 7 3 35 19 35 19 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763305 1 185823428 TA T 420 PASS HMCN1 CCDS30956.1 r.? - - Del intronic D 185823428 185823438 1 20 376.629 - - 9 1 1 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 3 4 5 22 34 22 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763398 1 186194815 TA T 600 PASS - - - - - Del - D 186194815 186194824 1 35 538.042 - - 8 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 4 9 6 25 29 25 29 9 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763431 1 186337586 GA G 300 PASS TPR CCDS41446.1 r.? - - Del intronic D 186337586 186337594 1 12 268.419 - - 7 1 1 TPR|CCDS41446.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TPR|CCDS41446.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 2 6 4 34 22 34 22 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763477 1 186484035 C CA 360 PASS - - - - - Ins - I 186484035 186484044 1 15 319.213 - - 8 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 2 4 3 5 27 36 27 36 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763534 1 186619299 TG T 360 PASS - - - - - Del - D 186619299 186619306 1 16 321.621 - - 6 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 3 3 5 32 27 32 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763547 1 186637528 C CT 333 PASS PTGS2 CCDS1371.1 r.? - - Ins downstream I 186637528 186637538 1 21 421.402 - - 9 1 1 PTGS2|CCDS1371.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 PTGS2|CCDS1371.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 15 12 16 0 0 ./. 2 6 2 7 32 34 33 35 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763600 1 186822188 AT A 300 PASS PLA2G4A CCDS1372.1 r.? - - Del intronic D 186822188 186822197 1 6 269.021 - - 8 1 1 PLA2G4A|CCDS1372.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLA2G4A|CCDS1372.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 0 5 0 6 4 30 4 30 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763653 1 186925949 AT A 360 PASS PLA2G4A CCDS1372.1 r.? - - Del intronic D 186925949 186925959 1 15 322.825 - - 9 1 1 PLA2G4A|CCDS1372.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLA2G4A|CCDS1372.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 4 2 5 12 36 12 36 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763860 1 187616311 GT G 420 PASS - - - - - Del - D 187616311 187616321 1 20 376.027 - - 9 1 - - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 4 6 4 23 34 23 34 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763919 1 187804008 CT C 360 PASS - - - - - Del - D 187804008 187804018 1 15 322.223 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 2 5 2 19 20 19 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763966 1 187953667 T TA 300 PASS - - - - - Ins - I 187953667 187953676 1 12 266.01 - - 8 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 6 2 26 33 26 34 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759763967 1 187958653 AT A 300 PASS - - - - - Del - D 187958653 187958663 1 12 269.021 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 3 2 17 16 17 16 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759764281 1 188640618 GT G 540 PASS - - - - - Del - D 188640618 188640625 1 24 484.237 - - 6 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 7 2 8 3 33 31 33 31 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759764331 1 188765818 C CT 305 PASS - - - - - Ins - I 188765818 188765827 1 20 366.394 - - 8 1 1 - - ./. 0 0 0 0 21 14 21 14 0 0 ./. 4 3 5 3 36 25 36 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759764448 1 189356430 CT C 300 PASS - - - - - Del - D 189356430 189356440 1 10 267.817 - - 9 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 1 4 2 4 23 23 23 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759764659 1 189959772 A AT 480 PASS - - - - - Ins - I 189959772 189959781 1 21 425.617 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 2 7 2 39 33 42 34 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759764714 1 190226522 C CT 300 PASS FAM5C CCDS1373.1 r.? - - Ins intronic I 190226522 190226529 1 12 266.01 - - 6 1 1 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 3 4 23 27 23 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759764858 1 190755121 G GA 360 PASS - - - - - Ins - I 190755121 190755130 1 12 319.213 - - 8 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 1 6 1 43 33 44 33 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759764912 1 190913469 GT G 480 PASS - - - - - Del - D 190913469 190913475 1 24 429.831 - - 5 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 5 3 8 28 29 28 29 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759765077 1 191572197 GA G 420 PASS - - - - - Del - D 191572197 191572206 1 14 376.629 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 6 2 7 12 33 12 33 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759765204 1 192126587 AT A 360 PASS RGS18 CCDS1374.1 r.? - - Del upstream D 192126587 192126596 1 16 322.825 - - 8 1 1 RGS18|CCDS1374.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 RGS18|CCDS1374.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 4 10 4 10 0 0 ./. 3 3 4 5 8 14 8 14 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759765277 1 192378827 CCT C 480 PASS - - - - - Del - D 192378827 192378843 2 24 430.433 - - 7 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 5 4 6 26 39 26 39 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759765345 1 192686246 CA C 420 PASS - - - - - Del - D 192686246 192686255 1 14 376.027 - - 8 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 1 6 3 6 17 20 17 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759765358 1 192724839 C CA 420 PASS - - - - - Ins - I 192724839 192724849 1 20 370.609 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 4 4 5 30 57 30 57 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759765398 1 192917927 C CT 720 PASS - - - - - Ins - I 192917927 192917936 1 40 638.425 - - 8 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 9 4 10 36 53 37 53 4 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759765531 1 193348136 AC A 360 PASS - - - - - Del - D 193348136 193348142 1 15 322.825 - - 5 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 4 3 5 28 37 28 37 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759765619 1 193627365 GA G 480 PASS - - - - - Del - D 193627365 193627374 1 24 428.025 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 3 7 4 34 37 34 37 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759765927 1 194540934 TA T 660 PASS - - - - - Del - D 194540934 194540943 1 42 590.04 - - 8 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 5 7 5 20 32 20 32 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766001 1 194874608 AT A 320 PASS - - - - - Del - D 194874608 194874613 1 16 430.433 - - 4 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 7 1 8 1 31 16 31 16 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766028 1 194950054 CT C 540 PASS - - - - - Del - D 194950054 194950061 1 24 483.033 - - 6 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 7 4 7 49 36 49 36 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766071 1 195076763 CA C 360 PASS - - - - - Del - D 195076763 195076771 1 15 322.825 - - 7 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 4 3 4 29 12 29 12 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766178 1 195424866 CT C 360 PASS - - - - - Del - D 195424866 195424876 1 16 322.825 - - 9 1 1 - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 3 3 4 4 17 26 17 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766249 1 195660909 TG T 300 PASS - - - - - Del - D 195660909 195660911 1 12 267.215 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 2 8 3 25 5 25 5 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766476 1 196541598 AAG A 360 PASS KCNT2 CCDS1384.1 r.? - - Del intronic D 196541598 196541611 2 12 322.825 - - 6 1 1 KCNT2|CCDS1384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNT2|CCDS1384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 1 5 2 36 32 36 32 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766480 1 196548632 CT C 300 PASS KCNT2 CCDS1384.1 r.? - - Del intronic D 196548632 196548642 1 6 269.021 - - 9 1 1 KCNT2|CCDS1384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNT2|CCDS1384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 0 5 0 7 20 51 20 51 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766510 1 196680921 CT C 360 PASS CFH CCDS1385.1 r.? - - Del intronic D 196680921 196680927 1 15 322.825 - - 5 1 1 CFH|CCDS1385.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CFH|CCDS1385.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 4 4 4 26 25 26 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766645 1 197159215 AT A 360 PASS ZBTB41 CCDS30960.1 r.? - - Del intronic D 197159215 197159225 1 15 314.396 - - 9 1 1 ZBTB41|CCDS30960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZBTB41|CCDS30960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 2 5 3 24 28 24 28 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766712 1 197379559 G GA 420 PASS CRB1 CCDS1390.1 r.? - - Ins intronic I 197379559 197379565 1 14 372.415 - - 5 1 1 CRB1|CCDS1390.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CRB1|CCDS1390.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 6 1 7 24 41 24 41 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766720 1 197406020 AT A 360 PASS CRB1 CCDS1390.1 r.? - - Del intronic D 197406020 197406029 1 15 322.825 - - 8 1 1 CRB1|CCDS1390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRB1|CCDS1390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 2 5 3 31 8 31 8 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759766930 1 198086165 C CA 300 PASS - - - - - Ins - I 198086165 198086170 1 12 266.01 - - 4 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 2 3 11 33 11 33 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759767130 1 198600310 TG T 300 PASS - - - - - Del - D 198600310 198600312 1 12 269.021 - - 1 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 3 2 3 3 23 28 23 28 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759767268 1 199105912 TA T 300 PASS - - - - - Del - D 199105912 199105922 1 12 269.021 - - 9 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 3 2 4 28 28 28 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759767309 1 199315481 CT C 540 PASS - - - - - Del - D 199315481 199315491 1 30 483.635 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 4 5 5 26 24 26 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759767329 1 199392481 AAG A 300 PASS - - - - - Del - D 199392481 199392497 2 12 269.021 - - 7 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 2 4 3 29 20 29 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759767403 1 199613148 CA C 300 PASS - - - - - Del - D 199613148 199613158 1 10 269.021 - - 9 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 1 4 2 17 24 17 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759767465 1 199796605 CA C 298 PASS - - - - - Del - D 199796605 199796615 1 15 321.621 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 4 3 6 18 24 18 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759767528 1 199897417 TA T 360 PASS - - - - - Del - D 199897417 199897427 1 12 322.825 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 1 5 2 24 22 24 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759767731 1 200369052 GT G 300 PASS - - - - - Del - D 200369052 200369062 1 10 269.021 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 1 4 1 7 26 30 26 30 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759767945 1 200745649 AAG A 780 PASS CAMSAP1L1 CCDS1404.1 r.? - - Del intronic D 200745649 200745663 2 56 693.433 - - 6 1 1 CAMSAP1L1|CCDS1404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMSAP1L1|CCDS1404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 6 7 7 7 34 24 34 24 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759768082 1 201195811 CA C 360 PASS IGFN1 ENST00000451870 r.? - - Del intronic D 201195811 201195821 1 15 322.825 - - 9 1 1 IGFN1|ENST00000451870|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGFN1|ENST00000451870|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 19 6 19 0 0 ./. 4 2 7 2 29 32 29 32 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759768135 1 201372329 GA G 420 PASS TNNI1 CCDS1411.1 r.? - - Del downstream D 201372329 201372335 1 18 376.027 - - 5 1 1 TNNI1|CCDS1411.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LAD1|CCDS1410.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 18 12 18 12 0 0 ./. 2 5 2 7 31 39 31 39 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759768246 1 201642155 CA C 420 PASS NAV1 CCDS1414.1 r.? - - Del intronic D 201642155 201642165 1 18 374.221 - - 9 1 1 NAV1|CCDS1414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAV1|CCDS1414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 2 7 3 36 23 36 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759768297 1 201775279 AT A 300 PASS NAV1 CCDS1414.1 r.? - - Del intronic D 201775279 201775285 1 12 268.419 - - 5 1 1 NAV1|CCDS1414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAV1|CCDS1414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 3 2 5 2 35 32 35 32 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759768373 1 201940490 TA T 300 PASS TIMM17A CCDS1417.1 r.? - - Del downstream D 201940490 201940494 1 12 246.745 - - 3 1 1 TIMM17A|CCDS1417.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TIMM17A|CCDS1417.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 2 3 22 28 22 28 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759768446 1 202044431 CT C 360 PASS - - - - - Del - D 202044431 202044439 1 16 322.825 - - 7 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 3 3 3 6 25 37 25 37 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759768484 1 202086133 CT C 509 PASS - - - - - Del - D 202086133 202086143 1 30 484.237 - - 9 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 4 5 5 6 19 34 19 34 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759768734 1 202821495 GT G 420 PASS - - - - - Del - D 202821495 202821504 1 20 376.629 - - 8 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 3 4 3 32 23 32 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759768899 1 203216898 AT A 360 PASS - - - - - Del - D 203216898 203216908 1 16 319.213 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 3 4 4 37 22 37 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759768941 1 203328411 TG T 300 PASS - - - - - Del - D 203328411 203328418 1 12 269.021 - - 6 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 2 3 2 3 38 31 38 31 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759769155 1 203831447 T TA 360 PASS SNRPE CCDS30979.1 r.? - - Ins intronic I 203831447 203831453 1 12 319.213 - - 5 1 1 SNRPE|CCDS30979.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNRPE|CCDS30979.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 1 5 2 6 22 25 23 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759769203 1 203903793 AT A 300 PASS - - - - - Del - D 203903793 203903802 1 6 268.419 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 0 5 0 27 2 27 2 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759769324 1 204212447 CAGG C 507 PASS PLEKHA6 CCDS1444.1 r.? - - Del intronic D 204212447 204212453 3 32 524.796 - - 1 1 1 PLEKHA6|CCDS1444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLEKHA6|CCDS1444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 7 3 7 20 24 20 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759769334 1 204237795 CCA C 600 PASS PLEKHA6 CCDS1444.1 r.? - - Del intronic D 204237795 204237800 2 32 538.042 - - 2 1 1 PLEKHA6|CCDS1444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLEKHA6|CCDS1444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 7 3 7 3 41 19 41 19 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759769482 1 204569867 AT A 300 PASS MDM4 ENST00000391947 r.? - - Del intronic D 204569867 204569876 1 12 269.021 - - 8 1 1 MDM4|ENST00000391947|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 MDM4|ENST00000391947|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 3 4 4 36 29 36 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759769525 1 204688250 AT A 360 PASS - - - - - Del - D 204688250 204688257 1 7 322.825 - - 6 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 0 6 1 8 26 25 26 25 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759769545 1 204754849 GT G 385 PASS - - - - - Del - D 204754849 204754859 1 24 430.433 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 5 4 7 30 32 30 32 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759769592 1 204879803 AT A 269 PASS NFASC CCDS30982.1 r.? - - Del intronic D 204879803 204879812 1 12 269.021 - - 8 1 1 NFASC|CCDS30982.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NFASC|CCDS30982.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 2 5 3 31 17 31 17 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759769788 1 205322369 GA G 300 PASS KLHDC8A CCDS30985.1 r.? - - Del intronic D 205322369 205322378 1 10 269.021 - - 8 1 1 KLHDC8A|CCDS30985.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KLHDC8A|CCDS30985.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 4 3 18 23 18 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770131 1 206287468 CT C 297 PASS C1orf186 ENST00000331555 r.? - - Del intronic D 206287468 206287476 1 10 269.021 - - 7 1 1 C1orf186|ENST00000331555|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C1orf186|ENST00000331555|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 24 20 24 0 0 ./. 1 4 2 5 56 48 56 48 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770241 1 206751708 AT A 509 PASS RASSF5 CCDS1464.1 r.? - - Del intronic D 206751708 206751715 1 30 484.237 - - 6 1 1 RASSF5|CCDS1464.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASSF5|CCDS1464.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 5 5 6 42 24 42 24 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770258 1 206813689 CT C 480 PASS DYRK3 CCDS31000.1 r.? - - Del intronic D 206813689 206813698 1 24 430.433 - - 8 1 1 DYRK3|CCDS31000.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DYRK3|CCDS31000.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 5 3 6 4 28 28 28 28 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770299 1 206965808 CT C 300 PASS - - - - - Del - D 206965808 206965818 1 10 269.021 - - 9 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 4 1 5 1 29 26 29 26 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770357 1 207125065 TC T 540 PASS - - - - - Del - D 207125065 207125073 1 30 483.033 - - 7 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 4 5 6 6 34 34 34 34 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770430 1 207442810 CT C 360 PASS - - - - - Del - D 207442810 207442820 1 15 320.417 - - 9 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 2 4 2 32 13 32 13 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770469 1 207558275 TG T 300 PASS - - - - - Del - D 207558275 207558282 1 12 269.021 - - 6 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 2 5 3 29 26 29 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770493 1 207665573 G GA 600 PASS CR1 CCDS44308.1 r.? - - Ins upstream I 207665573 207665580 1 35 529.011 - - 6 1 1 CR1|CCDS44308.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CR1|CCDS44308.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 11 11 12 11 0 0 ./. 4 6 4 8 30 41 30 41 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770638 1 208298736 GA G 269 PASS PLXNA2 CCDS31013.1 r.? - - Del intronic D 208298736 208298739 1 12 269.021 - - 2 1 1 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 8 4 8 0 0 ./. 3 2 3 2 19 32 19 32 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770641 1 208316695 CT C 300 PASS PLXNA2 CCDS31013.1 r.? - - Del intronic D 208316695 208316697 1 12 269.021 - - 1 1 1 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 5 5 5 0 0 ./. 2 3 4 4 31 24 31 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770652 1 208350769 GATA G 687 PASS PLXNA2 CCDS31013.1 r.? - - Del intronic D 208350769 208350778 3 56 699.454 - - 2 1 1 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 7 6 7 8 31 42 31 42 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770757 1 208660534 CT C 300 PASS - - - - - Del - D 208660534 208660542 1 12 269.021 - - 7 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 3 2 6 4 23 29 23 29 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770781 1 208765377 AT A 420 PASS - - - - - Del - D 208765377 208765386 1 20 376.629 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 3 4 4 22 29 22 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770796 1 208814043 GA G 480 PASS - - - - - Del - D 208814043 208814052 1 16 429.229 - - 8 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 7 4 8 25 30 25 30 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770797 1 208819008 CT C 300 PASS - - - - - Del - D 208819008 208819018 1 12 269.021 - - 9 1 1 - - ./. 0 0 0 0 5 19 5 19 0 0 ./. 3 2 4 3 19 21 19 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770832 1 208919594 AC A 360 PASS - - - - - Del - D 208919594 208919600 1 12 322.825 - - 5 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 1 5 2 40 8 40 8 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759770882 1 209077048 T TG 300 PASS - - - - - Ins - I 209077048 209077055 1 12 266.01 - - 6 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 3 7 27 35 27 35 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771128 1 209947649 AT A 420 PASS TRAF3IP3 CCDS1490.1 r.? - - Del intronic D 209947649 209947659 1 20 376.629 - - 9 1 1 TRAF3IP3|CCDS1490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAF3IP3|CCDS1490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 4 3 6 3 33 23 33 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771216 1 210273907 AT A 360 PASS SYT14 CCDS31014.1 r.? - - Del intronic D 210273907 210273915 1 12 322.825 - - 7 1 1 SYT14|CCDS31014.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYT14|CCDS31014.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 5 1 8 8 39 8 39 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771243 1 210350138 CT C 269 PASS - - - - - Del - D 210350138 210350148 1 12 267.215 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 6 3 36 19 36 19 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771290 1 210476252 TC T 540 PASS - - - - - Del - D 210476252 210476259 1 28 483.033 - - 6 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 6 3 6 5 27 35 27 35 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771436 1 210871356 CT C 300 PASS KCNH1 CCDS31015.1 r.? - - Del intronic D 210871356 210871361 1 10 269.021 - - 4 1 1 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 1 4 1 7 22 44 22 44 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771443 1 210906499 AT A 360 PASS KCNH1 CCDS31015.1 r.? - - Del intronic D 210906499 210906509 1 12 322.825 - - 9 1 1 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 1 5 3 6 31 39 31 39 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771447 1 210909987 GAA G 420 PASS KCNH1 CCDS31015.1 r.? - - Del intronic D 210909987 210909996 2 18 376.629 - - 8 1 1 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 5 2 5 24 27 24 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771492 1 211039320 G GA 420 PASS KCNH1 CCDS31015.1 r.? - - Ins intronic I 211039320 211039329 1 18 372.415 - - 8 1 1 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 20 15 20 0 0 ./. 2 5 5 5 21 35 21 35 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771493 1 211039661 TA T 420 PASS KCNH1 CCDS31015.1 r.? - - Del intronic D 211039661 211039668 1 20 376.629 - - 6 1 1 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 3 4 4 25 21 25 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771537 1 211136555 T TA 300 PASS KCNH1 CCDS31015.1 r.? - - Ins intronic I 211136555 211136564 1 12 266.01 - - 8 1 1 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 3 4 4 41 36 41 37 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771538 1 211136555 TA T 420 PASS KCNH1 CCDS31015.1 r.? - - Del intronic D 211136555 211136564 1 20 376.629 - - 8 1 1 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 3 9 5 37 35 37 35 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771548 1 211170604 GA G 337 PASS KCNH1 CCDS31015.1 r.? - - Del intronic D 211170604 211170613 1 16 322.825 - - 8 1 1 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 3 3 5 35 35 35 35 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771609 1 211343340 TA T 360 PASS - - - - - Del - D 211343340 211343349 1 15 322.825 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 4 2 7 29 35 29 35 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771638 1 211426892 CT C 300 PASS - - - - - Del - D 211426892 211426902 1 12 269.021 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 2 6 3 27 28 27 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771701 1 211605952 CT C 360 PASS - - - - - Del - D 211605952 211605962 1 12 322.223 - - 9 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 1 5 1 27 14 27 14 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771762 1 211723643 CT C 300 PASS - - - - - Del - D 211723643 211723653 1 10 269.021 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 1 4 3 29 28 29 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771823 1 211840596 GA G 300 PASS NEK2 CCDS1500.1 r.? - - Del intronic D 211840596 211840606 1 12 269.021 - - 9 1 1 NEK2|CCDS1500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEK2|CCDS1500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 3 3 4 22 29 22 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771839 1 211892512 CT C 300 PASS - - - - - Del - D 211892512 211892522 1 10 269.021 - - 9 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 1 4 1 4 2 39 2 39 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771845 1 211911194 T TG 360 PASS - - - - - Ins - I 211911194 211911201 1 15 312.59 - - 6 1 1 - - ./. 0 0 0 0 12 4 12 4 0 0 ./. 2 4 3 4 25 30 25 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771945 1 212116425 CT C 360 PASS INTS7 CCDS1501.1 r.? - - Del intronic D 212116425 212116431 1 12 322.825 - - 5 1 1 INTS7|CCDS1501.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INTS7|CCDS1501.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 1 5 2 6 23 35 23 35 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759771978 1 212207425 CA C 360 PASS DTL CCDS1502.1 r.? - - Del upstream D 212207425 212207435 1 12 320.417 - - 9 1 1 DTL|CCDS1502.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 INTS7|CCDS1501.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 1 5 3 8 15 25 15 25 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772014 1 212282831 AT A 300 PASS DTL CCDS1502.1 r.? - - Del downstream D 212282831 212282841 1 10 269.021 - - 9 1 1 DTL|CCDS1502.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DTL|CCDS1502.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 16 13 16 0 0 ./. 1 4 1 6 20 35 20 35 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772041 1 212334266 GC G 360 PASS - - - - - Del - D 212334266 212334272 1 15 322.825 - - 5 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 2 4 2 7 29 33 29 33 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772283 1 212944356 TA T 660 PASS NSL1 CCDS1509.1 r.? - - Del intronic D 212944356 212944365 1 42 581.611 - - 8 1 1 NSL1|CCDS1509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NSL1|CCDS1509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 6 5 7 47 40 47 40 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772290 1 212957348 CA C 300 PASS NSL1 CCDS1509.1 r.? - - Del intronic D 212957348 212957358 1 12 269.021 - - 9 1 1 NSL1|CCDS1509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NSL1|CCDS1509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 2 3 3 5 20 25 20 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772347 1 213047201 CT C 360 PASS FLVCR1 CCDS1510.1 r.? - - Del intronic D 213047201 213047211 1 12 322.825 - - 9 1 1 FLVCR1|CCDS1510.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FLVCR1|CCDS1510.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 1 6 4 40 25 40 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772490 1 213329007 CT C 600 PASS RPS6KC1 CCDS1513.1 r.? - - Del intronic D 213329007 213329017 1 27 536.235 - - 9 1 1 RPS6KC1|CCDS1513.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPS6KC1|CCDS1513.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 8 4 9 31 33 31 33 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772540 1 213472180 T TC 360 PASS - - - - - Ins - I 213472180 213472187 1 12 318.008 - - 6 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 1 7 1 40 5 41 5 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772557 1 213519967 GT G 360 PASS - - - - - Del - D 213519967 213519977 1 15 322.825 - - 9 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 4 2 5 2 32 12 32 12 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772685 1 214030970 AG A 449 PASS - - - - - Del - D 214030970 214030974 1 25 430.433 - - 3 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 4 4 6 4 31 29 31 29 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772746 1 214203528 TA T 300 PASS PROX1 CCDS31021.1 r.? - - Del intronic D 214203528 214203538 1 12 269.021 - - 9 1 1 PROX1|CCDS31021.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PROX1|CCDS31021.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 2 3 2 4 36 27 36 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772854 1 214545879 GA G 600 PASS PTPN14 CCDS1514.1 r.? - - Del intronic D 214545879 214545886 1 32 538.042 - - 6 1 1 PTPN14|CCDS1514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN14|CCDS1514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 7 3 7 21 41 21 41 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772871 1 214593031 CA C 420 PASS PTPN14 CCDS1514.1 r.? - - Del intronic D 214593031 214593040 1 20 376.629 - - 8 1 1 PTPN14|CCDS1514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN14|CCDS1514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 4 3 5 25 33 25 33 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772929 1 214681741 CT C 720 PASS PTPN14 CCDS1514.1 r.? - - Del intronic D 214681741 214681749 1 45 645.65 - - 7 1 1 PTPN14|CCDS1514.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPN14|CCDS1514.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 8 4 10 4 41 23 41 23 10 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759772968 1 214790396 C CT 300 PASS CENPF CCDS31023.1 r.? - - Ins intronic I 214790396 214790404 1 12 265.408 - - 7 1 - CENPF|CCDS31023.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CENPF|CCDS31023.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 3 2 4 3 24 11 24 11 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773009 1 214902076 AT A 360 PASS - - - - - Del - D 214902076 214902083 1 16 322.825 - - 6 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 3 3 4 15 22 15 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773032 1 214997997 GT G 300 PASS - - - - - Del - D 214997997 214998007 1 12 265.408 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 3 2 4 28 27 28 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773077 1 215160493 CT C 420 PASS - - - - - Del - D 215160493 215160503 1 18 376.629 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 2 5 5 38 23 38 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773201 1 215495879 AT A 300 PASS - - - - - Del - D 215495879 215495889 1 12 269.021 - - 9 1 1 - - ./. 0 0 0 0 19 6 19 6 0 0 ./. 2 3 2 3 15 32 15 32 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773264 1 215874988 CT C 282 PASS USH2A CCDS31025.1 r.? - - Del intronic D 215874988 215874996 1 16 322.825 - - 7 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 9 20 9 0 0 ./. 3 3 5 4 36 30 36 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773273 1 215911707 CT C 360 PASS USH2A CCDS31025.1 r.? - - Del intronic D 215911707 215911715 1 7 322.825 - - 7 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 0 6 0 7 3 28 3 28 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773307 1 216018860 TA T 360 PASS USH2A CCDS31025.1 r.? - - Del intronic D 216018860 216018870 1 16 322.825 - - 9 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 3 3 31 24 31 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773495 1 216713176 CA C 360 PASS ESRRG CCDS1517.1 r.? - - Del intronic D 216713176 216713186 1 15 322.825 - - 9 1 1 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 4 2 5 4 26 4 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773500 1 216723861 TAC T 360 PASS ESRRG CCDS1517.1 r.? - - Del intronic D 216723861 216723867 2 15 322.825 - - 2 1 1 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 4 2 4 38 35 38 35 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773523 1 216778721 TA T 300 PASS ESRRG CCDS1517.1 r.? - - Del intronic D 216778721 216778731 1 12 269.021 - - 9 1 1 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 3 5 11 31 11 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773573 1 216898142 AT A 360 PASS ESRRG CCDS1517.1 r.? - - Del intronic D 216898142 216898150 1 12 317.406 - - 7 1 1 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 5 1 8 1 25 14 25 14 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773704 1 217234403 CT C 269 PASS ESRRG CCDS1517.1 r.? - - Del intronic D 217234403 217234410 1 12 269.021 - - 6 1 1 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 3 3 3 39 12 39 12 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773746 1 217318784 G GA 300 PASS - - - - - Ins - I 217318784 217318793 1 10 266.01 - - 8 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 1 4 1 22 24 22 25 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773747 1 217318784 GA G 360 PASS - - - - - Del - D 217318784 217318793 1 15 322.825 - - 8 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 4 3 4 22 23 22 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773754 1 217339324 CT C 300 PASS - - - - - Del - D 217339324 217339332 1 12 269.021 - - 7 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 3 2 3 2 24 23 24 23 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773785 1 217456026 T TA 300 PASS - - - - - Ins - I 217456026 217456033 1 12 266.01 - - 6 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 3 3 11 39 11 39 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773795 1 217487018 GA G 360 PASS - - - - - Del - D 217487018 217487028 1 16 322.223 - - 9 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 4 4 27 30 27 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773887 1 217844755 G GA 300 PASS SPATA17 CCDS1519.1 r.? - - Ins intronic I 217844755 217844761 1 10 266.01 - - 5 1 1 SPATA17|CCDS1519.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPATA17|CCDS1519.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 1 4 1 28 16 28 16 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759773915 1 217950569 CT C 300 PASS SPATA17 CCDS1519.1 r.? - - Del intronic D 217950569 217950579 1 10 269.021 - - 9 1 1 SPATA17|CCDS1519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPATA17|CCDS1519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 13 21 13 0 0 ./. 1 4 4 4 16 26 16 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774020 1 218261835 AT A 300 PASS - - - - - Del - D 218261835 218261845 1 12 267.215 - - 9 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 2 3 3 4 23 23 23 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774072 1 218457138 AT A 449 PASS RRP15 CCDS1520.2 r.? - - Del upstream D 218457138 218457147 1 24 424.413 - - 8 1 1 RRP15|CCDS1520.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 RRP15|CCDS1520.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 4 7 4 0 0 ./. 3 5 4 7 34 32 34 32 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774086 1 218522905 AT A 540 PASS TGFB2 CCDS44318.1 r.? - - Del intronic D 218522905 218522912 1 30 480.625 - - 6 1 1 TGFB2|CCDS44318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TGFB2|CCDS44318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 4 5 5 26 23 26 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774087 1 218524857 CT C 300 PASS TGFB2 CCDS44318.1 r.? - - Del intronic D 218524857 218524866 1 12 269.021 - - 8 1 1 TGFB2|CCDS44318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TGFB2|CCDS44318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 3 4 3 21 29 21 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774106 1 218578726 ACT A 300 PASS TGFB2 CCDS44318.1 r.? - - Del intronic D 218578726 218578745 2 10 267.817 - - 9 1 1 TGFB2|CCDS44318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TGFB2|CCDS44318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 1 4 2 5 24 29 24 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774281 1 219135852 TA T 360 PASS - - - - - Del - D 219135852 219135861 1 15 322.825 - - 8 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 2 4 3 5 21 39 21 39 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774420 1 219586209 AT A 360 PASS - - - - - Del - D 219586209 219586217 1 15 322.825 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 2 7 2 30 25 30 25 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774552 1 219947307 GA G 360 PASS - - - - - Del - D 219947307 219947314 1 12 322.825 - - 6 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 1 6 3 40 32 40 32 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774601 1 220120874 CA C 425 PASS - - - - - Del - D 220120874 220120884 1 21 430.433 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 6 2 6 3 19 37 19 37 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774622 1 220163290 AG A 300 PASS EPRS CCDS31027.1 r.? - - Del intronic D 220163290 220163297 1 12 268.419 - - 6 1 1 EPRS|CCDS31027.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPRS|CCDS31027.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 7 18 7 0 0 ./. 2 3 2 5 31 39 31 39 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774646 1 220199605 CA C 329 PASS EPRS CCDS31027.1 r.? - - Del intronic D 220199605 220199611 1 15 322.223 - - 5 1 1 EPRS|CCDS31027.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPRS|CCDS31027.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 2 4 4 24 22 24 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774716 1 220347641 AT A 389 PASS RAB3GAP2 CCDS31028.1 r.? - - Del intronic D 220347641 220347650 1 20 376.629 - - 8 1 1 RAB3GAP2|CCDS31028.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB3GAP2|CCDS31028.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 3 5 4 31 14 31 14 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774725 1 220382225 AT A 480 PASS RAB3GAP2 CCDS31028.1 r.? - - Del intronic D 220382225 220382232 1 21 430.433 - - 6 1 1 RAB3GAP2|CCDS31028.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB3GAP2|CCDS31028.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 6 2 7 28 25 28 25 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774728 1 220421059 C CA 269 PASS RAB3GAP2 CCDS31028.1 r.? - - Ins intronic I 220421059 220421066 1 6 266.01 - - 6 1 1 RAB3GAP2|CCDS31028.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAB3GAP2|CCDS31028.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 0 5 0 9 2 41 2 41 0 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774736 1 220447856 AG A 600 PASS RAB3GAP2 CCDS31028.1 r.? - - Del upstream D 220447856 220447864 1 35 538.042 - - 7 1 1 RAB3GAP2|CCDS31028.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RAB3GAP2|CCDS31028.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 4 6 5 30 35 30 35 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774835 1 220704284 AT A 300 PASS MARK1 CCDS31029.2 r.? - - Del intronic D 220704284 220704291 1 12 269.021 - - 6 1 1 MARK1|CCDS31029.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MARK1|CCDS31029.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 3 3 3 19 22 19 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774867 1 220803460 G GT 360 PASS MARK1 CCDS31029.2 r.? - - Ins intronic I 220803460 220803468 1 16 319.213 - - 7 1 1 MARK1|CCDS31029.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MARK1|CCDS31029.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 5 3 35 29 35 29 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774954 1 221139783 CA C 540 PASS - - - - - Del - D 221139783 221139792 1 24 484.237 - - 8 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 7 2 8 2 41 22 41 22 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759774961 1 221158986 AT A 420 PASS - - - - - Del - D 221158986 221158993 1 20 376.629 - - 6 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 3 6 6 31 31 31 31 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775009 1 221307859 G GT 569 PASS - - - - - Ins - I 221307859 221307866 1 32 529.613 - - 6 1 1 - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 3 7 3 8 21 39 22 39 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775091 1 221649804 CGT C 300 PASS - - - - - Del - D 221649804 221649823 2 10 269.021 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 1 5 1 32 22 32 22 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775115 1 221741578 AT A 360 PASS - - - - - Del - D 221741578 221741587 1 16 318.008 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 5 6 34 36 34 36 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775144 1 221805433 GA G 300 PASS - - - - - Del - D 221805433 221805441 1 12 269.021 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 4 2 28 20 28 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775187 1 221956814 AT A 540 PASS - - - - - Del - D 221956814 221956824 1 24 484.237 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 7 2 7 28 26 28 26 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775205 1 222007803 CTT C 420 PASS - - - - - Del - D 222007803 222007809 2 20 376.629 - - 5 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 4 5 6 26 32 26 32 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775240 1 222081517 TA T 420 PASS - - - - - Del - D 222081517 222081526 1 20 376.629 - - 8 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 3 4 4 43 21 43 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775327 1 222428235 TG T 720 PASS - - - - - Del - D 222428235 222428244 1 48 637.823 - - 8 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 7 5 10 6 43 26 43 26 10 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775444 1 222847953 ATAT A 360 PASS AIDA CCDS1533.1 r.? - - Del intronic D 222847953 222847960 3 15 322.825 - - 2 1 1 AIDA|CCDS1533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AIDA|CCDS1533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 4 2 4 22 24 22 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775446 1 222857994 GA G 300 PASS AIDA CCDS1533.1 r.? - - Del intronic D 222857994 222858002 1 12 268.419 - - 7 1 1 AIDA|CCDS1533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AIDA|CCDS1533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 6 18 6 0 0 ./. 3 2 4 2 31 18 31 18 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775503 1 223034214 C CA 300 PASS - - - - - Ins - I 223034214 223034223 1 12 266.01 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 2 6 15 37 16 37 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775536 1 223142275 CA C 600 PASS DISP1 CCDS1536.1 r.? - - Del intronic D 223142275 223142285 1 35 538.042 - - 9 1 1 DISP1|CCDS1536.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DISP1|CCDS1536.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 6 4 9 21 31 21 31 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775562 1 223188597 AGTT A 420 PASS - - - - - Del - D 223188597 223188604 3 8 372.415 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 0 7 4 8 27 34 27 34 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775575 1 223240332 CT C 360 PASS - - - - - Del - D 223240332 223240340 1 15 322.825 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 2 5 4 46 33 46 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775587 1 223294124 TA T 300 PASS TLR5 CCDS31033.1 r.? - - Del intronic D 223294124 223294131 1 12 267.817 - - 6 1 1 TLR5|CCDS31033.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TLR5|CCDS31033.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 2 3 44 37 44 37 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775681 1 223675439 CT C 300 PASS - - - - - Del - D 223675439 223675446 1 12 269.021 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 4 5 22 31 22 31 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759775797 1 224039110 G GT 300 PASS - - - - - Ins - I 224039110 224039116 1 12 266.01 - - 5 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 2 6 5 37 32 38 32 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776081 1 224527493 TC T 358 PASS - - - - - Del - D 224527493 224527501 1 18 376.629 - - 7 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 5 2 6 21 37 21 37 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776177 1 224694740 A AT 360 PASS - - - - - Ins - I 224694740 224694748 1 15 313.192 - - 7 1 1 - - ./. 0 0 0 0 12 1 12 1 0 0 ./. 4 2 7 7 35 38 35 38 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776178 1 224696728 TA T 420 PASS - - - - - Del - D 224696728 224696738 1 20 374.221 - - 9 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 4 3 6 4 48 17 48 17 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776219 1 224809137 GT G 300 PASS CNIH3 CCDS1544.1 r.? - - Del intronic D 224809137 224809145 1 12 269.021 - - 7 1 1 CNIH3|CCDS1544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNIH3|CCDS1544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 3 3 26 32 26 32 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776253 1 224942383 TA T 300 PASS - - - - - Del - D 224942383 224942390 1 12 269.021 - - 6 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 2 3 21 30 21 30 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776262 1 224975524 GA G 569 PASS - - - - - Del - D 224975524 224975534 1 35 529.011 - - 9 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 4 8 8 26 29 26 29 8 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776299 1 225101486 CA C 300 PASS DNAH14 ENST00000445597 r.? - - Del intronic D 225101486 225101495 1 12 269.021 - - 8 1 1 DNAH14|ENST00000445597|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH14|ENST00000445597|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 2 3 2 4 19 21 19 21 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776378 1 225522025 T TA 300 PASS DNAH14 CCDS44321.1 r.? - - Ins intronic I 225522025 225522035 1 10 266.01 - - 9 1 1 DNAH14|CCDS44321.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAH14|CCDS44321.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 1 4 2 4 32 36 32 36 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776456 1 225728670 CA C 300 PASS ENAH CCDS31041.1 r.? - - Del intronic D 225728670 225728679 1 10 269.021 - - 8 1 1 ENAH|CCDS31041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENAH|CCDS31041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 1 4 1 28 2 28 2 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776469 1 225775669 C CA 300 PASS ENAH CCDS31041.1 r.? - - Ins intronic I 225775669 225775677 1 12 265.408 - - 7 1 1 ENAH|CCDS31041.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENAH|CCDS31041.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 8 8 9 0 0 ./. 2 3 2 3 30 17 30 17 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776516 1 225873431 CA C 360 PASS - - - - - Del - D 225873431 225873441 1 15 322.825 - - 9 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 2 5 7 34 31 34 31 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776573 1 225976543 GT G 360 PASS SRP9 CCDS44323.1 r.? - - Del intronic D 225976543 225976553 1 15 322.825 - - 9 1 1 SRP9|CCDS44323.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 SRP9|CCDS44323.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 3 4 21 23 21 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776706 1 226229393 CAG C 300 PASS - - - - - Del - D 226229393 226229400 2 12 268.419 - - 3 1 1 - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 3 2 6 3 34 32 34 32 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776744 1 226286740 C CT 300 PASS - - - - - Ins - I 226286740 226286750 1 6 266.01 - - 9 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 5 0 6 3 40 29 40 29 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776827 1 226441014 CT C 300 PASS LIN9 CCDS1553.1 r.? - - Del intronic D 226441014 226441023 1 6 265.408 - - 8 1 1 LIN9|CCDS1553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIN9|CCDS1553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 0 5 1 6 16 29 16 30 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776852 1 226496268 TG T 360 PASS LIN9 CCDS1553.1 r.? - - Del intronic D 226496268 226496276 1 15 317.406 - - 7 1 1 LIN9|CCDS1553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIN9|CCDS1553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 2 4 3 26 16 26 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776930 1 226634520 A AT 360 PASS - - - - - Ins - I 226634520 226634523 1 16 319.213 - - 2 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 3 3 5 3 33 19 33 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776966 1 226739788 AT A 540 PASS C1orf95 CCDS31044.1 r.? - - Del intronic D 226739788 226739795 1 28 484.237 - - 6 1 1 C1orf95|CCDS31044.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf95|CCDS31044.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 6 4 7 30 33 30 33 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759776973 1 226764251 AT A 300 PASS C1orf95 CCDS31044.1 r.? - - Del intronic D 226764251 226764261 1 12 269.021 - - 9 1 1 C1orf95|CCDS31044.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf95|CCDS31044.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 3 4 37 35 37 35 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777008 1 226879727 G GA 300 PASS ITPKB CCDS1555.1 r.? - - Ins intronic I 226879727 226879734 1 12 266.01 - - 6 1 1 ITPKB|CCDS1555.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITPKB|CCDS1555.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 5 5 32 28 32 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777085 1 227084395 CA C 300 PASS CABC1 CCDS1557.1 r.? - - Del upstream D 227084395 227084405 1 12 264.204 - - 9 1 1 CABC1|CCDS1557.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CABC1|CCDS1557.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 2 6 3 25 34 25 34 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777147 1 227278910 GA G 480 PASS CDC42BPA CCDS1558.1 r.? - - Del intronic D 227278910 227278919 1 21 430.433 - - 8 1 1 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 6 2 6 28 36 28 36 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777235 1 227457031 GA G 420 PASS CDC42BPA CCDS1558.1 r.? - - Del intronic D 227457031 227457039 1 14 376.629 - - 7 1 1 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 6 1 8 6 23 6 23 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777270 1 227512583 T TA 480 PASS - - - - - Ins - I 227512583 227512592 1 21 425.015 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 2 6 3 37 36 37 36 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777327 1 227593547 CA C 420 PASS - - - - - Del - D 227593547 227593552 1 14 376.629 - - 4 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 6 2 6 26 25 26 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777373 1 227719449 TG T 420 PASS - - - - - Del - D 227719449 227719456 1 20 373.619 - - 6 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 4 4 4 37 39 37 39 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777404 1 227829178 T TA 360 PASS ZNF678 CCDS1560.1 r.? - - Ins intronic I 227829178 227829187 1 16 318.611 - - 8 1 1 ZNF678|CCDS1560.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF678|CCDS1560.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 3 3 8 31 36 31 37 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777412 1 227856092 TA T 360 PASS - - - - - Del - D 227856092 227856100 1 7 322.825 - - 7 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 0 6 0 8 4 24 4 24 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777544 1 228384547 TA T 480 PASS - - - - - Del - D 228384547 228384555 1 25 430.433 - - 7 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 4 6 4 34 30 34 30 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777742 1 229021674 T TA 300 PASS - - - - - Ins - I 229021674 229021681 1 12 264.204 - - 6 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 3 4 34 20 34 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777798 1 229200788 CT C 540 PASS - - - - - Del - D 229200788 229200798 1 30 480.023 - - 9 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 4 7 4 29 38 29 38 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777899 1 229482150 CT C 660 PASS C1orf96 CCDS1577.1 r.? - - Del upstream D 229482150 229482160 1 42 590.04 - - 9 1 1 C1orf96|CCDS1577.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 C1orf96|CCDS1577.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 8 17 8 0 0 ./. 5 6 5 7 34 38 34 38 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777919 1 229543827 AG A 420 PASS - - - - - Del - D 229543827 229543833 1 20 376.027 - - 5 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 3 5 4 35 35 35 35 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759777963 1 229678129 CA C 420 PASS ABCB10 CCDS1580.1 r.? - - Del intronic D 229678129 229678139 1 20 376.629 - - 9 1 1 ABCB10|CCDS1580.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCB10|CCDS1580.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 3 5 4 33 31 33 31 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759778048 1 229901918 G GT 300 PASS - - - - - Ins - I 229901918 229901928 1 10 266.01 - - 9 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 1 4 2 29 12 29 12 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759778084 1 230057237 TA T 300 PASS - - - - - Del - D 230057237 230057244 1 12 269.021 - - 6 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 2 4 2 30 22 30 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759778322 1 230804639 AT A 360 PASS COG2 CCDS1584.1 r.? - - Del intronic D 230804639 230804648 1 15 322.825 - - 8 1 1 COG2|CCDS1584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COG2|CCDS1584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 4 5 8 27 32 27 32 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759778400 1 231077222 A AT 360 PASS TTC13 CCDS1588.1 r.? - - Ins intronic I 231077222 231077229 1 12 318.611 - - 6 1 1 TTC13|CCDS1588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC13|CCDS1588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 1 5 3 46 33 46 35 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759778442 1 231126678 TTA T 300 PASS ARV1 CCDS1589.1 r.? - - Del intronic D 231126678 231126682 2 12 269.021 - - 1 1 1 ARV1|CCDS1589.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARV1|CCDS1589.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 3 4 3 35 18 35 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759778572 1 231466544 CT C 300 PASS EXOC8 CCDS1593.1 r.? - - Del downstream D 231466544 231466553 1 10 269.021 - - 8 1 1 EXOC8|CCDS1593.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AL117352.4|ENST00000510952|r.1500delU|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 1 5 3 37 22 37 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759778747 1 231919628 AT A 480 PASS DISC1 CCDS31055.1 r.? - - Del intronic D 231919628 231919636 1 16 429.831 - - 7 1 1 DISC1|CCDS31055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DISC1|CCDS31055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 1 7 5 8 33 42 33 42 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759778766 1 231986298 TA T 420 PASS DISC1 CCDS31055.1 r.? - - Del intronic D 231986298 231986306 1 18 376.629 - - 7 1 1 DISC1|CCDS31055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DISC1|CCDS31055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 5 3 5 35 23 35 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759778912 1 232400821 AT A 600 PASS - - - - - Del - D 232400821 232400827 1 32 536.837 - - 5 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 7 3 8 3 50 38 50 38 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759778957 1 232536314 TA T 360 PASS SIPA1L2 CCDS41474.1 r.? - - Del intronic D 232536314 232536321 1 16 322.825 - - 6 1 1 SIPA1L2|CCDS41474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SIPA1L2|CCDS41474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 3 3 4 4 30 34 30 34 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779019 1 232751796 CTT C 300 PASS - - - - - Del - D 232751796 232751801 2 12 269.021 - - 4 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 2 3 2 26 19 26 19 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779065 1 232872695 CT C 840 PASS - - - - - Del - D 232872695 232872703 1 55 753.258 - - 7 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 10 5 10 26 42 26 42 5 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779107 1 232998623 CA C 540 PASS - - - - - Del - D 232998623 232998633 1 30 484.237 - - 9 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 4 5 6 23 32 23 32 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779136 1 233119805 CT C 300 PASS PCNXL2 CCDS44335.1 r.? - - Del downstream D 233119805 233119814 1 6 266.01 - - 8 1 1 PCNXL2|CCDS44335.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 PCNXL2|CCDS44335.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 6 18 6 18 0 0 ./. 0 5 1 7 20 31 20 31 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779288 1 233595393 A AT 269 PASS - - - - - Ins - I 233595393 233595401 1 12 266.01 - - 7 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 3 2 6 25 29 25 30 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779344 1 233803537 T TA 267 PASS KCNK1 CCDS1599.1 r.? - - Ins intronic I 233803537 233803547 1 12 263 - - 9 1 1 KCNK1|CCDS1599.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNK1|CCDS1599.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 2 4 3 14 20 14 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779378 1 233879952 G GT 360 PASS - - - - - Ins - I 233879952 233879961 1 15 316.202 - - 8 1 1 - - ./. 0 0 0 0 11 17 12 17 0 0 ./. 2 4 2 7 23 37 23 39 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779454 1 234044611 AT A 267 PASS SLC35F3 CCDS1600.1 r.? - - Del intronic D 234044611 234044621 1 16 322.825 - - 9 1 1 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 3 6 6 29 28 29 28 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779511 1 234250173 G GT 360 PASS SLC35F3 CCDS1600.1 r.? - - Ins intronic I 234250173 234250179 1 15 319.213 - - 5 1 1 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 4 2 6 35 33 37 33 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779568 1 234430648 T TG 480 PASS SLC35F3 CCDS1600.1 r.? - - Ins intronic I 234430648 234430657 1 25 423.811 - - 8 1 1 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 4 6 5 41 34 42 34 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779980 1 235430827 TA T 420 PASS ARID4B CCDS31061.1 r.? - - Del intronic D 235430827 235430836 1 20 376.629 - - 8 1 1 ARID4B|CCDS31061.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARID4B|CCDS31061.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 4 7 6 29 33 29 33 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759779985 1 235436679 T TA 480 PASS ARID4B CCDS31061.1 r.? - - Ins intronic I 235436679 235436687 1 24 425.617 - - 7 1 1 ARID4B|CCDS31061.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARID4B|CCDS31061.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 3 6 5 23 38 23 38 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759780161 1 235720749 TC T 420 PASS GNG4 CCDS1607.1 r.? - - Del intronic D 235720749 235720756 1 20 376.629 - - 6 1 1 GNG4|CCDS1607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GNG4|CCDS1607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 4 3 4 29 26 29 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759780360 1 236222604 CA C 300 PASS NID1 CCDS1608.1 r.? - - Del intronic D 236222604 236222613 1 10 269.021 - - 8 1 1 NID1|CCDS1608.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NID1|CCDS1608.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 1 5 2 36 27 36 27 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759780363 1 236224770 G GT 360 PASS NID1 CCDS1608.1 r.? - - Ins intronic I 236224770 236224779 1 16 319.213 - - 8 1 1 NID1|CCDS1608.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NID1|CCDS1608.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 3 3 3 40 27 41 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759780393 1 236271457 C CA 300 PASS - - - - - Ins - I 236271457 236271464 1 10 266.01 - - 6 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 1 4 4 5 28 37 28 37 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759780604 1 236606350 TAAG T 538 PASS EDARADD CCDS31065.1 r.? - - Del intronic D 236606350 236606360 3 36 538.042 - - 3 1 1 EDARADD|CCDS31065.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EDARADD|CCDS31065.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 5 6 7 33 29 33 29 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759780768 1 236836939 AT A 540 PASS - - - - - Del - D 236836939 236836949 1 30 484.237 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 4 6 5 28 35 28 35 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759780925 1 237202424 AT A 360 PASS RYR2 ENST00000366574 r.? - - Del upstream D 237202424 237202431 1 7 322.825 - - 6 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RYR2|ENST00000366574|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 13 15 13 0 0 ./. 0 6 1 7 7 45 7 45 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759780948 1 237238483 CT C 476 PASS RYR2 ENST00000366574 r.? - - Del intronic D 237238483 237238493 1 35 538.042 - - 9 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 21 9 21 0 0 ./. 4 6 5 7 29 42 29 42 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759780976 1 237317946 CA C 300 PASS RYR2 ENST00000366574 r.? - - Del intronic D 237317946 237317956 1 10 267.215 - - 9 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 1 4 1 14 31 14 31 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781014 1 237393747 AT A 480 PASS RYR2 ENST00000366574 r.? - - Del intronic D 237393747 237393757 1 24 430.433 - - 9 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 3 6 5 25 25 25 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781055 1 237491451 AT A 300 PASS RYR2 ENST00000366574 r.? - - Del intronic D 237491451 237491460 1 12 269.021 - - 8 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 2 4 2 27 18 27 18 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781072 1 237537794 C CA 360 PASS RYR2 ENST00000366574 r.? - - Ins intronic I 237537794 237537801 1 12 319.213 - - 6 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 10 20 10 0 0 ./. 1 5 2 7 28 41 30 41 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781244 1 237921696 G GA 360 PASS RYR2 ENST00000366574 r.? - - Ins intronic I 237921696 237921705 1 15 317.406 - - 8 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 4 3 5 30 22 31 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781293 1 238034306 CT C 480 PASS - - - - - Del - D 238034306 238034316 1 21 428.627 - - 9 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 6 2 6 2 35 34 35 34 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781327 1 238136837 CT C 300 PASS - - - - - Del - D 238136837 238136847 1 10 269.021 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 1 4 3 6 25 30 25 30 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781329 1 238143096 GA G 420 PASS - - - - - Del - D 238143096 238143104 1 20 376.629 - - 7 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 3 6 4 23 39 23 39 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781547 1 238675176 GT G 420 PASS - - - - - Del - D 238675176 238675186 1 14 373.017 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 6 1 7 21 28 21 28 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781623 1 238934647 G GT 480 PASS - - - - - Ins - I 238934647 238934655 1 25 425.617 - - 7 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 4 4 7 38 34 38 35 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781636 1 238961717 CT C 269 PASS - - - - - Del - D 238961717 238961726 1 12 268.419 - - 8 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 3 2 4 3 30 35 30 35 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781637 1 238965603 CA C 480 PASS - - - - - Del - D 238965603 238965612 1 25 430.433 - - 8 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 4 6 5 17 23 17 23 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781784 1 239425593 G GT 300 PASS - - - - - Ins - I 239425593 239425601 1 12 266.01 - - 7 1 1 - - ./. 0 0 0 0 14 19 15 19 0 0 ./. 2 3 3 4 19 19 19 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759781883 1 239679393 CT C 269 PASS - - - - - Del - D 239679393 239679403 1 12 269.021 - - 9 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 3 3 3 35 24 35 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782008 1 240093130 AT A 420 PASS - - - - - Del - D 240093130 240093139 1 18 376.629 - - 8 1 1 - - ./. 0 0 0 0 17 5 17 5 0 0 ./. 5 2 5 2 27 19 27 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782040 1 240175324 GT G 420 PASS FMN2 ENST00000447095 r.? - - Del upstream D 240175324 240175326 1 18 376.027 - - 1 1 1 FMN2|ENST00000447095|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 FMN2|ENST00000447095|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 5 2 6 33 31 33 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782161 1 240430605 TA T 600 PASS FMN2 CCDS31069.2 r.? - - Del intronic D 240430605 240430615 1 27 537.44 - - 9 1 1 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 8 2 10 28 35 28 35 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782296 1 240720037 TA T 660 PASS GREM2 CCDS31070.1 r.? - - Del intronic D 240720037 240720044 1 40 591.846 - - 6 1 1 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 19 6 19 0 0 ./. 4 7 8 10 32 51 32 51 8 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782301 1 240740643 GA G 360 PASS GREM2 CCDS31070.1 r.? - - Del intronic D 240740643 240740651 1 12 320.417 - - 7 1 1 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 17 27 17 0 0 ./. 1 5 1 5 19 31 19 31 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782342 1 240835018 GGT G 449 PASS - - - - - Del - D 240835018 240835021 2 25 426.821 - - 1 1 - - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 4 7 8 22 32 22 32 8 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782463 1 241129467 TA T 300 PASS RGS7 CCDS31071.1 r.? - - Del intronic D 241129467 241129477 1 12 269.021 - - 9 1 1 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 2 7 2 28 32 28 32 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782517 1 241238898 G GA 420 PASS RGS7 CCDS31071.1 r.? - - Ins intronic I 241238898 241238908 1 18 369.404 - - 9 1 1 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 12 12 0 0 ./. 5 2 7 3 38 23 38 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782650 1 241543771 TA T 360 PASS - - - - - Del - D 241543771 241543779 1 15 322.825 - - 7 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 4 3 6 32 37 32 37 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782711 1 241739527 AT A 300 PASS KMO CCDS1618.1 r.? - - Del intronic D 241739527 241739534 1 12 269.021 - - 6 1 1 KMO|CCDS1618.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KMO|CCDS1618.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 3 3 26 26 26 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782723 1 241761548 GT G 480 PASS KMO CCDS1618.1 r.? - - Del downstream D 241761548 241761557 1 24 429.831 - - 8 1 1 KMO|CCDS1618.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OPN3|CCDS31072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 3 8 5 39 22 39 22 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782814 1 241974671 CT C 420 PASS - - - - - Del - D 241974671 241974680 1 20 375.425 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 3 8 4 34 32 34 32 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759782933 1 242151586 CA C 300 PASS - - - - - Del - D 242151586 242151594 1 12 269.021 - - 7 1 - - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 2 4 2 28 20 28 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783159 1 242593331 AT A 300 PASS PLD5 CCDS1621.1 r.? - - Del intronic D 242593331 242593338 1 12 269.021 - - 6 1 1 PLD5|CCDS1621.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLD5|CCDS1621.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 3 4 3 33 28 33 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783310 1 242992183 TA T 300 PASS - - - - - Del - D 242992183 242992192 1 12 267.817 - - 8 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 2 3 4 4 21 34 21 34 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783361 1 243120305 CA C 269 PASS - - - - - Del - D 243120305 243120315 1 12 269.021 - - 9 1 - - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 3 3 6 42 22 42 22 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783402 1 243213062 AC A 250 PASS - - - - - Del - D 243213062 243213068 1 10 268.419 - - 5 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 1 7 1 34 22 34 22 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783483 1 243465059 AG A 600 PASS SDCCAG8 CCDS31075.1 r.? - - Del intronic D 243465059 243465062 1 35 538.042 - - 2 1 1 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 16 5 16 0 0 ./. 6 4 8 4 32 26 32 26 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783513 1 243557449 CT C 360 PASS SDCCAG8 CCDS31075.1 r.? - - Del intronic D 243557449 243557458 1 16 322.825 - - 8 1 1 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 3 3 3 31 22 31 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783521 1 243577103 GT G 360 PASS SDCCAG8 CCDS31075.1 r.? - - Del intronic D 243577103 243577111 1 15 320.417 - - 7 1 1 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 4 4 7 27 28 27 28 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783621 1 244006609 AT A 300 PASS AKT3 CCDS31077.1 r.? - - Del intronic D 244006609 244006618 1 10 269.021 - - 8 1 1 AKT3|CCDS31077.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 AKT3|CCDS31077.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 1 5 1 35 16 35 16 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783635 1 244046316 TA T 360 PASS - - - - - Del - D 244046316 244046326 1 12 322.825 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 1 7 3 27 23 27 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783636 1 244048231 C CA 420 PASS - - - - - Ins - I 244048231 244048238 1 18 372.415 - - 6 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 5 2 6 5 37 34 37 34 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783780 1 244442496 G GT 300 PASS - - - - - Ins - I 244442496 244442504 1 12 266.01 - - 7 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 3 2 4 27 30 27 30 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783819 1 244520769 T TG 300 PASS C1orf100 CCDS31079.1 r.? - - Ins intronic I 244520769 244520777 1 12 266.01 - - 7 1 1 C1orf100|CCDS31079.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C1orf100|CCDS31079.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 3 2 4 2 28 27 28 27 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783857 1 244571056 CA C 269 PASS ADSS CCDS1624.1 r.? - - Del downstream D 244571056 244571064 1 12 256.98 - - 7 1 - ADSS|CCDS1624.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ADSS|CCDS1624.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 6 3 40 23 40 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783933 1 244800257 GCT G 300 PASS C1orf101 CCDS44340.1 r.? - - Del intronic D 244800257 244800268 2 10 269.021 - - 5 1 1 C1orf101|CCDS44340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf101|CCDS44340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 1 5 1 33 28 33 28 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759783938 1 244804161 AG A 360 PASS C1orf101 CCDS44340.1 r.? - - Del downstream D 244804161 244804170 1 15 322.825 - - 8 1 - C1orf101|CCDS44340.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 C1orf101|CCDS44340.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 4 3 4 21 15 21 15 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784015 1 244947963 TA T 362 PASS - - - - - Del - D 244947963 244947973 1 14 375.425 - - 9 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 6 1 7 1 32 18 32 18 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784032 1 244976186 CA C 300 PASS - - - - - Del - D 244976186 244976196 1 12 269.021 - - 9 1 - - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 3 2 5 4 27 23 27 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784057 1 245033099 AT A 697 PASS - - - - - Del - D 245033099 245033105 1 40 637.823 - - 5 1 1 - - ./. 0 0 0 0 10 4 10 4 0 0 ./. 3 9 3 11 27 45 27 45 3 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784222 1 245337404 CA C 300 PASS KIF26B CCDS44342.1 r.? - - Del intronic D 245337404 245337412 1 12 269.021 - - 7 1 1 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 2 3 17 31 17 31 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784238 1 245365818 TG T 420 PASS KIF26B CCDS44342.1 r.? - - Del intronic D 245365818 245365825 1 20 374.823 - - 6 1 1 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 3 4 3 25 29 25 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784356 1 245618803 G GA 300 PASS KIF26B CCDS44342.1 r.? - - Ins intronic I 245618803 245618811 1 10 262.398 - - 7 1 - KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 14 9 0 0 ./. 1 4 1 5 25 33 25 33 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784438 1 245776748 TA T 360 PASS KIF26B CCDS44342.1 r.? - - Del intronic D 245776748 245776756 1 16 320.417 - - 7 1 1 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 3 4 6 22 38 22 38 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784548 1 245991785 AT A 360 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 245991785 245991795 1 16 322.825 - - 9 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 3 3 4 22 21 22 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784571 1 246019004 TA T 360 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 246019004 246019010 1 12 322.825 - - 5 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 1 6 1 19 13 19 13 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784644 1 246169022 CACAA C 265 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 246169022 246169030 4 20 376.629 - - 1 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 4 4 5 29 31 29 31 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784650 1 246177105 GT G 300 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 246177105 246177112 1 12 269.021 - - 6 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 2 4 2 27 25 27 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784700 1 246314671 CT C 269 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 246314671 246314681 1 12 269.021 - - 9 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 3 2 4 4 33 23 33 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784792 1 246516140 GA G 300 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 246516140 246516148 1 6 269.021 - - 7 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 0 5 0 7 8 40 8 40 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784809 1 246555408 CT C 360 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 246555408 246555418 1 12 322.825 - - 9 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 1 5 3 27 33 27 33 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784825 1 246598284 TA T 300 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 246598284 246598292 1 10 269.021 - - 7 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 1 4 1 4 13 28 13 28 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759784841 1 246657661 CT C 360 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 246657661 246657671 1 12 322.223 - - 9 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 5 2 5 28 41 28 41 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759785083 1 247136868 TA T 300 PASS ZNF695 ENST00000366504 r.? - - Del intronic D 247136868 247136876 1 12 269.021 - - 7 1 1 ZNF695|ENST00000366504|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF695|ENST00000366504|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 5 4 34 28 34 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759785102 1 247166094 AG A 300 PASS ENSG00000250083 CCDS44344.1 r.? - - Del intronic D 247166094 247166103 1 12 263.602 - - 8 1 1 ENSG00000250083|CCDS44344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000250083|CCDS44344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 2 6 5 42 34 42 34 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759785236 1 247412473 GT G 566 PASS - - - - - Del - D 247412473 247412483 1 36 538.042 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 5 5 5 22 23 22 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759785260 1 247460254 AAC A 360 PASS ZNF496 CCDS1631.1 r.? - - Del downstream D 247460254 247460258 2 15 322.825 - - 1 1 1 ZNF496|CCDS1631.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ZNF496|CCDS1631.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 4 8 4 8 0 0 ./. 4 2 6 3 28 25 28 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759785382 1 247674644 CT C 424 PASS C1orf150 ENST00000366491 r.? - - Del intronic D 247674644 247674654 1 42 591.846 - - 9 1 1 C1orf150|ENST00000366491|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C1orf150|ENST00000366491|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 5 7 9 30 48 30 48 7 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759785397 1 247698451 CA C 420 PASS OR2C3 CCDS1634.2 r.? - - Del upstream D 247698451 247698459 1 14 376.629 - - 7 1 1 OR2C3|CCDS1634.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C1orf150|ENST00000366491|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 1 6 2 6 29 33 29 33 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759785850 1 248867179 GT G 420 PASS - - - - - Del - D 248867179 248867187 1 18 374.221 - - 7 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 2 7 3 30 22 30 22 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759786300 10 1095403 TCC T 300 PASS WDR37 CCDS7057.1 r.? - - Del upstream D 1095403 1095412 2 12 269.373 - - 8 1 1 WDR37|CCDS7057.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 WDR37|CCDS7057.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 3 3 9 6 26 6 26 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759786328 10 1151319 C CA 300 PASS WDR37 CCDS7057.1 r.? - - Ins intronic I 1151319 1151327 1 12 266.965 - - 7 1 1 WDR37|CCDS7057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR37|CCDS7057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 2 3 4 33 28 33 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759786499 10 1595382 CA C 480 PASS ADARB2 CCDS7058.1 r.? - - Del intronic D 1595382 1595390 1 24 427.745 - - 7 1 1 ADARB2|CCDS7058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADARB2|CCDS7058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 3 6 3 34 22 34 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759786504 10 1599963 TG T 509 PASS ADARB2 CCDS7058.1 r.? - - Del intronic D 1599963 1599969 1 30 484.149 - - 5 1 1 ADARB2|CCDS7058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADARB2|CCDS7058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 5 4 7 5 25 26 25 26 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759786548 10 1680896 GT G 360 PASS ADARB2 CCDS7058.1 r.? - - Del intronic D 1680896 1680905 1 16 323.97 - - 8 1 1 ADARB2|CCDS7058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADARB2|CCDS7058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 3 5 3 25 36 25 36 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759786664 10 2023191 C CT 329 PASS - - - - - Ins - I 2023191 2023200 1 15 320.358 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 5 2 19 26 19 27 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759786726 10 2215973 C CA 329 PASS - - - - - Ins - I 2215973 2215977 1 12 320.358 - - 3 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 1 5 2 5 14 32 14 32 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759786969 10 2880185 AT A 300 PASS ENSG00000214531 ENST00000398522 r.? - - Del intronic D 2880185 2880194 1 12 269.975 - - 8 1 1 ENSG00000214531|ENST00000398522|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000214531|ENST00000398522|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 4 29 27 29 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759787212 10 3514581 CAG C 360 PASS - - - - - Del - D 3514581 3514588 2 15 323.97 - - 3 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 4 4 5 26 22 26 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759787275 10 3714782 AT A 540 PASS - - - - - Del - D 3714782 3714792 1 18 481.74 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 8 2 8 16 27 16 27 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759787606 10 4560000 TC T 540 PASS - - - - - Del - D 4560000 4560003 1 30 485.955 - - 2 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 4 5 8 6 28 32 28 32 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759787624 10 4615970 CA C 360 PASS - - - - - Del - D 4615970 4615978 1 16 323.97 - - 7 1 1 - - ./. 0 0 0 0 8 19 8 19 0 0 ./. 3 3 4 8 22 21 22 21 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759787999 10 5581260 TGGA T 838 PASS - - - - - Del - D 5581260 5581268 3 60 809.323 - - 2 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 11 4 11 6 33 32 33 32 11 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759788238 10 6114137 G GA 600 PASS - - - - - Ins - I 6114137 6114145 1 35 531.521 - - 7 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 6 4 7 25 34 26 34 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759788527 10 6770939 GA G 300 PASS - - - - - Del - D 6770939 6770949 1 12 269.975 - - 9 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 3 2 5 5 37 31 37 31 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759788650 10 7019416 CA C 300 PASS - - - - - Del - D 7019416 7019425 1 10 269.975 - - 8 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 1 9 1 35 13 35 13 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759788726 10 7199034 TA T 360 PASS SFMBT2 CCDS31138.1 r.? - - Del downstream D 7199034 7199040 1 16 323.97 - - 5 1 1 SFMBT2|CCDS31138.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SFMBT2|CCDS31138.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 3 3 36 25 36 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759789069 10 8103504 GGAGA G 298 PASS GATA3 CCDS31143.1 r.? - - Del intronic D 8103504 8103512 4 15 323.97 - - 3 1 1 GATA3|CCDS31143.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GATA3|CCDS31143.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 4 2 6 3 29 24 29 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759789502 10 9124531 TA T 420 PASS - - - - - Del - D 9124531 9124541 1 20 377.965 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 3 6 4 40 25 40 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759789505 10 9129686 TC T 480 PASS - - - - - Del - D 9129686 9129689 1 21 431.96 - - 2 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 6 2 7 24 34 24 34 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759789515 10 9161543 GA G 300 PASS - - - - - Del - D 9161543 9161550 1 12 269.975 - - 6 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 2 3 3 3 29 18 29 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759789628 10 9507192 GA G 300 PASS - - - - - Del - D 9507192 9507200 1 6 269.975 - - 7 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 0 6 0 23 18 23 18 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759789733 10 9879586 CA C 300 PASS - - - - - Del - D 9879586 9879596 1 10 267.567 - - 9 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 4 2 4 21 28 21 28 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759789782 10 10033563 CA C 420 PASS - - - - - Del - D 10033563 10033568 1 18 377.965 - - 4 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 5 3 5 23 22 23 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759789820 10 10110078 AT A 300 PASS - - - - - Del - D 10110078 10110086 1 6 269.975 - - 7 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 0 5 0 5 10 19 10 19 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759789838 10 10164071 A AT 360 PASS - - - - - Ins - I 10164071 10164080 1 16 319.153 - - 8 1 1 - - ./. 0 0 0 0 10 9 11 9 0 0 ./. 3 3 4 4 23 36 24 36 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759789946 10 10506808 AT A 600 PASS - - - - - Del - D 10506808 10506815 1 36 538.746 - - 6 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 5 7 5 31 13 31 13 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759789981 10 10602647 GA G 420 PASS - - - - - Del - D 10602647 10602657 1 18 373.148 - - 9 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 5 5 6 19 29 19 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759790519 10 12115044 G GT 269 PASS DHTKD1 CCDS7087.1 r.? - - Ins intronic I 12115044 12115052 1 12 266.363 - - 7 1 1 DHTKD1|CCDS7087.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DHTKD1|CCDS7087.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 4 2 28 26 28 26 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759790562 10 12185732 CA C 540 PASS SEC61A2 CCDS44359.1 r.? - - Del intronic D 12185732 12185742 1 30 484.149 - - 9 1 1 SEC61A2|CCDS44359.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEC61A2|CCDS44359.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 4 6 4 28 28 28 28 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759790587 10 12234854 GA G 360 PASS NUDT5 CCDS7089.1 r.? - - Del intronic D 12234854 12234864 1 12 323.97 - - 9 1 1 NUDT5|CCDS7089.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NUDT5|CCDS7089.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 5 1 7 2 28 5 28 5 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759791071 10 13122193 AAG A 300 PASS CCDC3 ENST00000378839 r.? - - Del intronic D 13122193 13122212 2 10 269.975 - - 9 1 1 CCDC3|ENST00000378839|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCDC3|ENST00000378839|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 1 4 1 6 11 25 11 25 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759791229 10 13385813 CA C 600 PASS SEPHS1 CCDS7098.1 r.? - - Del intronic D 13385813 13385823 1 35 539.95 - - 9 1 1 SEPHS1|CCDS7098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEPHS1|CCDS7098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 6 4 8 5 26 23 26 23 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759791301 10 13570079 CG C 329 PASS BEND7 ENST00000396900 r.? - - Del intronic D 13570079 13570086 1 16 322.766 - - 6 1 1 BEND7|ENST00000396900|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BEND7|ENST00000396900|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 3 9 3 0 0 ./. 3 3 5 5 31 33 31 33 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759791360 10 13719612 CT C 300 PASS FRMD4A CCDS7101.1 r.? - - Del intronic D 13719612 13719618 1 10 269.975 - - 5 1 1 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 1 4 3 9 29 34 29 34 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759791361 10 13722881 TA T 300 PASS FRMD4A CCDS7101.1 r.? - - Del intronic D 13722881 13722891 1 10 268.771 - - 9 1 1 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 12 5 12 0 0 ./. 4 1 4 1 25 10 25 10 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759791394 10 13770210 AT A 509 PASS FRMD4A CCDS7101.1 r.? - - Del intronic D 13770210 13770220 1 30 485.955 - - 9 1 1 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 4 5 5 5 23 26 23 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759791493 10 13984941 GC G 600 PASS FRMD4A CCDS7101.1 r.? - - Del intronic D 13984941 13984943 1 35 538.144 - - 1 1 1 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 4 6 6 6 22 33 22 33 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759791695 10 14540934 TG T 480 PASS - - - - - Del - D 14540934 14540943 1 24 431.96 - - 8 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 5 4 5 18 16 18 16 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759791734 10 14619499 TA T 420 PASS FAM107B CCDS7102.1 r.? - - Del intronic D 14619499 14619509 1 14 377.965 - - 9 1 1 FAM107B|CCDS7102.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM107B|CCDS7102.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 6 1 10 4 29 33 29 33 10 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759791754 10 14677641 C CT 360 PASS FAM107B CCDS7102.1 r.? - - Ins intronic I 14677641 14677649 1 15 320.358 - - 7 1 1 FAM107B|CCDS7102.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM107B|CCDS7102.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 4 2 6 30 31 32 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759791785 10 14735653 GT G 420 PASS FAM107B CCDS7102.1 r.? - - Del intronic D 14735653 14735662 1 14 376.761 - - 8 1 1 FAM107B|CCDS7102.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM107B|CCDS7102.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 1 6 1 7 19 30 19 30 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759792154 10 15783353 AT A 360 PASS - - - - - Del - D 15783353 15783363 1 15 323.97 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 2 7 5 29 26 29 26 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759792378 10 16456017 A AG 509 PASS - - - - - Ins - I 16456017 16456023 1 28 480.536 - - 5 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 6 4 7 19 41 20 41 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759792417 10 16523356 TG T 480 PASS PTER CCDS7111.1 r.? - - Del intronic D 16523356 16523362 1 21 431.96 - - 5 1 1 PTER|CCDS7111.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTER|CCDS7111.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 6 2 6 2 31 26 31 26 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759792459 10 16673480 GA G 420 PASS RSU1 CCDS7112.1 r.? - - Del intronic D 16673480 16673487 1 20 376.761 - - 6 1 1 RSU1|CCDS7112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RSU1|CCDS7112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 3 7 3 23 17 23 17 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759792891 10 18268555 GA G 360 PASS SLC39A12 CCDS44362.1 r.? - - Del intronic D 18268555 18268565 1 16 323.368 - - 9 1 1 SLC39A12|CCDS44362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC39A12|CCDS44362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 3 4 5 31 27 31 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759793004 10 18543384 TCTC T 360 PASS CACNB2 CCDS7127.1 r.? - - Del intronic D 18543384 18543390 3 7 323.97 - - 1 1 1 CACNB2|CCDS7127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNB2|CCDS7127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 6 0 6 0 24 30 24 30 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759793043 10 18646581 CA C 360 PASS CACNB2 CCDS7128.1 r.? - - Del intronic D 18646581 18646589 1 15 323.97 - - 7 1 1 CACNB2|CCDS7128.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNB2|CCDS7128.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 2 6 3 24 33 24 33 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759793370 10 19448287 GT G 480 PASS - - - - - Del - D 19448287 19448295 1 9 428.95 - - 7 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 8 0 9 1 25 43 25 43 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759793398 10 19569337 GC G 360 PASS C10orf112 ENST00000377266 r.? - - Del intronic D 19569337 19569342 1 15 323.97 - - 4 1 1 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 2 5 2 33 24 33 24 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759793421 10 19648605 GA G 480 PASS C10orf112 ENST00000377266 r.? - - Del intronic D 19648605 19648615 1 24 431.96 - - 9 1 1 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 5 3 7 13 32 13 32 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759793448 10 19710727 CT C 360 PASS C10orf112 ENST00000377266 r.? - - Del intronic D 19710727 19710734 1 15 323.97 - - 6 1 1 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 4 2 5 21 26 21 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759793817 10 20949601 TG T 300 PASS - - - - - Del - D 20949601 20949607 1 12 269.975 - - 5 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 2 5 3 33 24 33 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759793946 10 21454890 T TA 300 PASS NEBL CCDS7133.1 r.? - - Ins intronic I 21454890 21454897 1 12 266.965 - - 6 1 1 NEBL|CCDS7133.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NEBL|CCDS7133.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 2 4 8 23 8 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759794152 10 22054155 AT A 300 PASS DNAJC1 CCDS7136.1 r.? - - Del intronic D 22054155 22054165 1 12 268.169 - - 9 1 1 DNAJC1|CCDS7136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC1|CCDS7136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 5 4 18 17 18 17 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759794185 10 22186294 GA G 300 PASS DNAJC1 CCDS7136.1 r.? - - Del intronic D 22186294 22186303 1 12 269.975 - - 8 1 1 DNAJC1|CCDS7136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC1|CCDS7136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 6 17 6 0 0 ./. 2 3 2 3 27 25 27 25 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759794193 10 22224053 GA G 360 PASS DNAJC1 CCDS7136.1 r.? - - Del intronic D 22224053 22224062 1 15 323.368 - - 8 1 1 DNAJC1|CCDS7136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC1|CCDS7136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 2 4 2 4 11 21 11 21 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759794243 10 22486847 CG C 300 PASS ENSG00000224369 ENST00000412505 r.? - - Del intronic D 22486847 22486854 1 6 268.771 - - 6 1 1 ENSG00000224369|ENST00000412505|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000224369|ENST00000412505|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 0 5 0 7 0 12 0 12 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759794247 10 22511592 T TTG 300 PASS ENSG00000224369 ENST00000412505 r.? - - Ins intronic I 22511592 22511610 2 12 263.954 - - 8 1 1 ENSG00000224369|ENST00000412505|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000224369|ENST00000412505|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 2 4 37 22 38 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759794444 10 23308787 CT C 360 PASS ARMC3 CCDS7142.1 r.? - - Del intronic D 23308787 23308793 1 16 321.562 - - 5 1 1 ARMC3|CCDS7142.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARMC3|CCDS7142.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 3 8 4 36 23 36 23 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759794489 10 23460264 TC T 480 PASS - - - - - Del - D 23460264 23460272 1 21 431.96 - - 7 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 6 2 7 23 23 23 23 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759794644 10 24124862 TC T 360 PASS KIAA1217 CCDS41496.1 r.? - - Del intronic D 24124862 24124869 1 12 323.97 - - 6 1 1 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 5 2 5 8 15 8 15 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759794671 10 24205077 GA G 360 PASS KIAA1217 CCDS41496.1 r.? - - Del intronic D 24205077 24205084 1 16 322.766 - - 6 1 1 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 4 6 27 40 27 40 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759794691 10 24263587 C CA 300 PASS KIAA1217 CCDS41496.1 r.? - - Ins intronic I 24263587 24263594 1 12 266.363 - - 6 1 1 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 2 5 2 33 29 33 30 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795212 10 25732182 TA T 300 PASS GPR158 CCDS31166.1 r.? - - Del intronic D 25732182 25732191 1 10 269.975 - - 8 1 1 GPR158|CCDS31166.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR158|CCDS31166.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 4 2 5 10 26 10 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795261 10 25866542 A AT 360 PASS GPR158 CCDS31166.1 r.? - - Ins intronic I 25866542 25866548 1 15 320.358 - - 5 1 1 GPR158|CCDS31166.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPR158|CCDS31166.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 4 4 5 23 24 23 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795290 10 25965343 TAG T 420 PASS - - - - - Del - D 25965343 25965357 2 20 377.965 - - 6 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 3 6 6 24 27 24 27 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795296 10 25990403 CT C 600 PASS - - - - - Del - D 25990403 25990412 1 36 539.348 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 5 6 9 29 39 29 39 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795337 10 26062811 TG T 314 PASS - - - - - Del - D 26062811 26062818 1 18 377.965 - - 6 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 5 2 8 23 27 23 27 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795345 10 26121999 AT A 300 PASS - - - - - Del - D 26121999 26122009 1 12 269.975 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 5 2 27 10 27 10 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795529 10 26517208 ACT A 300 PASS GAD2 CCDS7149.1 r.? - - Del intronic D 26517208 26517213 2 10 269.975 - - 2 1 1 GAD2|CCDS7149.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAD2|CCDS7149.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 4 2 5 19 27 19 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795565 10 26653870 TA T 300 PASS - - - - - Del - D 26653870 26653879 1 12 269.975 - - 8 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 3 2 5 27 25 27 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795747 10 27089552 CA C 420 PASS ABI1 CCDS7150.1 r.? - - Del intronic D 27089552 27089560 1 20 376.159 - - 7 1 1 ABI1|CCDS7150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABI1|CCDS7150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 3 5 3 25 20 25 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795825 10 27284417 TA T 480 PASS ANKRD26 ENST00000342931 r.? - - Del intronic D 27284417 27284425 1 16 431.358 - - 7 1 1 ANKRD26|ENST00000342931|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD26|ENST00000342931|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 7 1 7 1 27 25 27 25 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795833 10 27307426 CA C 389 PASS ANKRD26 CCDS41499.1 r.? - - Del intronic D 27307426 27307436 1 20 377.965 - - 9 1 1 ANKRD26|CCDS41499.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD26|CCDS41499.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 4 3 5 11 23 11 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795912 10 27438476 CA C 300 PASS YME1L1 CCDS7152.1 r.? - - Del intronic D 27438476 27438483 1 12 269.975 - - 6 1 1 YME1L1|CCDS7152.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 YME1L1|CCDS7152.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 3 2 4 3 16 29 16 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759795978 10 27534411 T TA 360 PASS ACBD5 CCDS44368.1 r.? - - Ins upstream I 27534411 27534420 1 15 319.153 - - 8 1 1 ACBD5|CCDS44368.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ACBD5|CCDS44368.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 4 2 5 11 32 11 32 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759796234 10 28290632 T TC 360 PASS ARMC4 CCDS7157.1 r.? - - Ins upstream I 28290632 28290640 1 16 320.358 - - 7 1 1 ARMC4|CCDS7157.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ARMC4|CCDS7157.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 3 3 4 11 24 11 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759796304 10 28488709 A AT 457 PASS MPP7 CCDS7158.1 r.? - - Ins intronic I 28488709 28488719 1 24 427.143 - - 9 1 1 MPP7|CCDS7158.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MPP7|CCDS7158.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 5 5 5 30 23 30 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759796439 10 28746612 AT A 360 PASS - - - - - Del - D 28746612 28746621 1 15 323.97 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 2 6 2 28 28 28 28 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759796458 10 28785005 CT C 360 PASS - - - - - Del - D 28785005 28785015 1 15 323.97 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 2 4 2 21 28 21 28 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759796535 10 28957481 CG C 300 PASS - - - - - Del - D 28957481 28957488 1 12 269.975 - - 6 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 5 4 41 20 41 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759796609 10 29079094 TA T 360 PASS - - - - - Del - D 29079094 29079104 1 16 322.164 - - 9 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 6 3 29 25 29 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759796848 10 29553606 C CA 531 PASS - - - - - Ins - I 29553606 29553614 1 32 533.929 - - 7 1 - - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 7 3 7 5 38 36 38 36 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759797003 10 29919679 GA G 480 PASS SVIL CCDS7164.1 r.? - - Del intronic D 29919679 29919688 1 25 430.756 - - 8 1 1 SVIL|CCDS7164.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SVIL|CCDS7164.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 4 5 5 29 24 29 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759797023 10 29964826 TAAGA T 358 PASS SVIL CCDS7164.1 r.? - - Del intronic D 29964826 29964834 4 18 377.965 - - 1 1 1 SVIL|CCDS7164.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SVIL|CCDS7164.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 2 6 4 25 33 25 33 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759797040 10 30006212 GT G 300 PASS SVIL CCDS7164.1 r.? - - Del intronic D 30006212 30006221 1 12 269.975 - - 8 1 1 SVIL|CCDS7164.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SVIL|CCDS7164.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 2 3 3 13 8 13 8 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759797176 10 30393653 TA T 360 PASS AL160060.2 ENST00000502624 r.? - - Del intronic D 30393653 30393661 1 15 322.766 - - 7 1 1 AL160060.2|ENST00000502624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL160060.2|ENST00000502624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 4 2 5 25 29 25 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759797281 10 30624258 CA C 420 PASS MTPAP CCDS7165.1 r.? - - Del intronic D 30624258 30624266 1 14 377.363 - - 7 1 1 MTPAP|CCDS7165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTPAP|CCDS7165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 1 6 2 8 13 32 13 32 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759797293 10 30662488 TA T 300 PASS - - - - - Del - D 30662488 30662498 1 12 269.975 - - 9 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 2 3 3 4 24 33 24 33 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759797361 10 30802943 TA T 360 PASS - - - - - Del - D 30802943 30802952 1 15 323.97 - - 8 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 4 2 6 2 18 8 18 8 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759797596 10 31390567 CT C 600 PASS - - - - - Del - D 31390567 31390577 1 32 539.95 - - 9 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 7 3 9 5 34 21 34 21 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759797659 10 31593803 G GA 540 PASS - - - - - Ins - I 31593803 31593812 1 18 479.934 - - 8 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 1 8 1 8 2 36 2 36 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759797701 10 31889176 AT A 360 PASS - - - - - Del - D 31889176 31889185 1 15 323.97 - - 8 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 4 2 4 3 30 24 30 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759797917 10 32382881 AT A 480 PASS - - - - - Del - D 32382881 32382883 1 21 431.358 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 6 4 7 26 36 26 36 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759798084 10 32740881 GC G 300 PASS CCDC7 CCDS7173.1 r.? - - Del intronic D 32740881 32740887 1 12 269.975 - - 5 1 1 CCDC7|CCDS7173.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC7|CCDS7173.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 3 3 5 19 28 19 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759798212 10 33179564 CCT C 540 PASS - - - - - Del - D 33179564 33179569 2 30 481.138 - - 2 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 5 5 5 29 30 29 30 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759798223 10 33213157 CT C 420 PASS ITGB1 CCDS31178.1 r.? - - Del intronic D 33213157 33213165 1 20 377.965 - - 7 1 1 ITGB1|CCDS31178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGB1|CCDS31178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 11 3 11 0 0 ./. 3 4 3 4 18 33 18 33 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759798537 10 34043583 GA G 420 PASS - - - - - Del - D 34043583 34043588 1 20 377.965 - - 4 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 4 4 5 21 23 21 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759798613 10 34253636 GA G 300 PASS - - - - - Del - D 34253636 34253644 1 10 265.761 - - 7 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 1 4 2 5 21 20 21 20 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759798678 10 34550204 T TA 269 PASS PARD3 CCDS7178.1 r.? - - Ins intronic I 34550204 34550213 1 12 266.965 - - 8 1 1 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 16 16 0 0 ./. 2 3 4 4 34 23 34 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759798713 10 34659125 GA G 420 PASS PARD3 CCDS7178.1 r.? - - Del intronic D 34659125 34659134 1 20 377.965 - - 8 1 1 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 4 4 4 24 23 24 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759798742 10 34731493 TA T 600 PASS PARD3 CCDS7178.1 r.? - - Del intronic D 34731493 34731503 1 36 539.95 - - 9 1 1 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 13 4 13 0 0 ./. 5 5 10 8 35 24 35 24 10 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759798788 10 34866601 GA G 360 PASS PARD3 CCDS7178.1 r.? - - Del intronic D 34866601 34866610 1 15 323.97 - - 8 1 1 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 2 4 2 21 22 21 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759798902 10 35115574 G GT 360 PASS - - - - - Ins - I 35115574 35115583 1 16 319.153 - - 8 1 1 - - ./. 0 0 0 0 17 18 18 19 0 0 ./. 3 3 4 6 26 22 26 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759798942 10 35189682 C CT 300 PASS - - - - - Ins - I 35189682 35189692 1 10 265.158 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 1 4 2 6 25 26 25 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759799068 10 35553408 GT G 360 PASS CCNY CCDS7190.1 r.? - - Del intronic D 35553408 35553415 1 16 323.97 - - 6 1 1 CCNY|CCDS7190.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCNY|CCDS7190.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 6 3 30 8 30 8 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759799138 10 35784631 TG T 420 PASS CCNY CCDS7189.1 r.? - - Del intronic D 35784631 35784638 1 18 377.965 - - 6 1 1 CCNY|CCDS7189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCNY|CCDS7189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 4 7 4 0 0 ./. 2 5 2 5 25 26 25 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759799341 10 36347877 A AT 360 PASS - - - - - Ins - I 36347877 36347887 1 16 319.755 - - 9 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 3 3 4 17 24 17 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759799503 10 36910613 CT C 360 PASS - - - - - Del - D 36910613 36910623 1 15 322.766 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 3 2 23 18 23 18 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759799544 10 37028320 CT C 300 PASS - - - - - Del - D 37028320 37028330 1 6 268.771 - - 9 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 0 5 3 7 9 19 9 19 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759799648 10 37305048 TTCTC T 449 PASS - - - - - Del - D 37305048 37305058 4 24 431.96 - - 4 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 5 3 7 21 30 21 30 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759799707 10 37613860 T TA 396 PASS - - - - - Ins - I 37613860 37613863 1 20 373.148 - - 2 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 4 3 4 4 21 28 21 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759799839 10 38038910 CT C 360 PASS - - - - - Del - D 38038910 38038919 1 15 323.97 - - 8 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 2 5 3 33 20 33 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759799853 10 38066129 CA C 360 PASS - - - - - Del - D 38066129 38066138 1 16 323.97 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 3 5 7 24 35 24 35 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759799999 10 38300561 A AT 480 PASS ZNF33A CCDS44372.1 r.? - - Ins intronic I 38300561 38300570 1 24 425.939 - - 8 1 1 ZNF33A|CCDS44372.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF33A|CCDS44372.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 10 20 10 0 0 ./. 5 3 5 5 24 35 25 35 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759801661 10 42859119 CT C 300 PASS - - - - - Del - D 42859119 42859127 1 12 269.975 - - 7 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 2 3 3 26 22 26 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759801682 10 42931539 AC A 348 PASS CCNYL2 ENST00000345581 r.? - - Del intronic D 42931539 42931545 1 24 485.955 - - 5 1 1 CCNYL2|ENST00000345581|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCNYL2|ENST00000345581|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 7 2 10 2 34 22 34 22 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759801733 10 43101378 TA T 300 PASS ZNF33B CCDS7198.1 r.? - - Del intronic D 43101378 43101388 1 12 269.975 - - 9 1 1 ZNF33B|CCDS7198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF33B|CCDS7198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 4 4 19 19 19 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759801754 10 43152608 TG T 300 PASS - - - - - Del - D 43152608 43152617 1 10 269.373 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 1 4 2 5 19 21 19 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759801844 10 43596696 TG T 300 PASS RET CCDS7200.1 r.? - - Del intronic D 43596696 43596704 1 10 269.975 - - 7 1 1 RET|CCDS7200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RET|CCDS7200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 1 5 13 29 13 29 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759801846 10 43599968 CA C 300 PASS RET CCDS7200.1 r.? - - Del intronic D 43599968 43599978 1 12 269.975 - - 9 1 1 RET|CCDS7200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RET|CCDS7200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 2 4 24 26 24 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759801919 10 43813510 GA G 300 PASS - - - - - Del - D 43813510 43813520 1 12 269.373 - - 9 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 2 4 3 28 26 28 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759802099 10 44126921 TA T 300 PASS - - - - - Del - D 44126921 44126930 1 6 266.965 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 0 5 0 6 2 23 2 23 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759802281 10 44954859 TA T 420 PASS - - - - - Del - D 44954859 44954868 1 20 377.965 - - 8 1 1 - - ./. 0 0 0 0 13 4 13 4 0 0 ./. 3 4 5 4 25 32 25 32 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759802306 10 45091887 CAA C 251 PASS - - - - - Del - D 45091887 45091891 2 12 269.975 - - 3 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 3 2 3 4 15 29 15 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759802324 10 45277011 CA C 480 PASS - - - - - Del - D 45277011 45277020 1 24 431.96 - - 8 1 1 - - ./. 0 0 0 0 18 22 18 22 0 0 ./. 5 3 5 5 21 26 21 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759802387 10 45577489 CA C 300 PASS - - - - - Del - D 45577489 45577497 1 12 265.761 - - 7 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 2 4 2 30 21 30 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759802418 10 45711395 TA T 420 PASS - - - - - Del - D 45711395 45711405 1 18 377.965 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 2 7 3 30 24 30 24 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759802479 10 45848510 G GA 300 PASS - - - - - Ins - I 45848510 45848517 1 6 266.965 - - 6 1 1 - - ./. 0 0 0 0 13 14 13 15 0 0 ./. 0 5 0 5 25 16 25 16 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759802643 10 46984688 GT G 300 PASS - - - - - Del - D 46984688 46984698 1 10 269.975 - - 9 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 4 1 8 3 71 41 71 41 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759802949 10 48785676 CA C 298 PASS PTPN20B CCDS41515.1 r.? - - Del intronic D 48785676 48785685 1 25 431.96 - - 8 1 1 PTPN20B|CCDS41515.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN20B|CCDS41515.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 4 5 5 15 24 15 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759803091 10 49751869 GA G 480 PASS ARHGAP22 CCDS7227.1 r.? - - Del intronic D 49751869 49751879 1 21 431.96 - - 9 1 1 ARHGAP22|CCDS7227.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP22|CCDS7227.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 6 2 11 2 28 22 28 22 11 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759803143 10 50007940 G GT 360 PASS WDFY4 CCDS44385.1 r.? - - Ins intronic I 50007940 50007950 1 15 310.123 - - 9 1 1 WDFY4|CCDS44385.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDFY4|CCDS44385.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 4 4 3 27 21 27 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759803164 10 50111153 TA T 960 PASS WDFY4 CCDS44385.1 r.? - - Del intronic D 50111153 50111163 1 80 859.103 - - 9 1 1 WDFY4|CCDS44385.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDFY4|CCDS44385.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 7 9 9 10 32 22 32 22 9 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759803326 10 50634841 AC A 420 PASS - - - - - Del - D 50634841 50634847 1 20 376.761 - - 5 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 4 4 4 31 22 31 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759803463 10 51030270 C CTG 360 PASS PARG ENST00000402038 r.? - - Ins intronic I 51030270 51030290 2 12 316.745 - - 9 1 - PARG|ENST00000402038|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARG|ENST00000402038|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 5 2 6 33 37 33 37 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759803674 10 52145417 CA C 420 PASS SGMS1 CCDS7240.1 r.? - - Del intronic D 52145417 52145427 1 18 377.965 - - 9 1 1 SGMS1|CCDS7240.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SGMS1|CCDS7240.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 5 2 6 6 22 21 22 21 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759803798 10 52619952 CA C 420 PASS A1CF CCDS7243.1 r.? - - Del intronic D 52619952 52619962 1 18 377.965 - - 9 1 1 A1CF|CCDS7243.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 A1CF|CCDS7243.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 24 20 24 0 0 ./. 5 2 5 3 36 25 36 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759803811 10 52709396 TA T 397 PASS - - - - - Del - D 52709396 52709405 1 18 376.761 - - 8 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 2 5 2 7 12 28 12 28 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759804479 10 54882505 AT A 600 PASS - - - - - Del - D 54882505 54882513 1 32 539.95 - - 7 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 3 7 3 36 22 36 22 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759804641 10 55325082 TG T 360 PASS - - - - - Del - D 55325082 55325085 1 15 323.97 - - 2 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 2 4 3 27 20 27 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759805091 10 56535663 TA T 360 PASS PCDH15 CCDS44404.1 r.? - - Del intronic D 56535663 56535672 1 16 323.97 - - 8 1 1 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 11 3 11 0 0 ./. 3 3 4 5 34 22 34 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759805131 10 56675064 AT A 360 PASS PCDH15 ENST00000373957 r.? - - Del intronic D 56675064 56675071 1 12 323.368 - - 6 1 1 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 5 1 6 2 28 23 28 23 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759805193 10 56840374 A AG 360 PASS PCDH15 ENST00000373957 r.? - - Ins intronic I 56840374 56840377 1 15 320.358 - - 2 1 1 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 2 6 2 20 25 20 25 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759805524 10 58160634 GT G 360 PASS - - - - - Del - D 58160634 58160644 1 16 323.97 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 3 5 4 27 19 27 19 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759805529 10 58174745 C CT 360 PASS - - - - - Ins - I 58174745 58174754 1 7 319.756 - - 8 1 1 - - ./. 0 0 0 0 14 12 15 12 0 0 ./. 0 6 2 8 27 27 27 27 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759805587 10 58378112 GA G 540 PASS - - - - - Del - D 58378112 58378121 1 28 485.955 - - 8 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 3 6 5 6 31 24 31 24 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759805654 10 58529375 CT C 360 PASS - - - - - Del - D 58529375 58529385 1 7 323.97 - - 9 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 6 0 7 0 22 1 22 1 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759805745 10 58744427 CT C 420 PASS - - - - - Del - D 58744427 58744435 1 20 372.546 - - 7 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 4 3 5 27 24 27 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759805875 10 59110747 GCA G 300 PASS - - - - - Del - D 59110747 59110752 2 12 269.975 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 4 2 29 25 29 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759805880 10 59169453 A AT 360 PASS - - - - - Ins - I 59169453 59169461 1 16 320.358 - - 7 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 4 2 30 19 30 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759805895 10 59212773 AT A 300 PASS - - - - - Del - D 59212773 59212778 1 12 269.975 - - 4 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 2 3 3 3 21 23 21 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806112 10 59767678 CA C 480 PASS - - - - - Del - D 59767678 59767684 1 24 429.552 - - 5 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 3 7 5 28 24 28 24 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806167 10 59897260 CT C 360 PASS - - - - - Del - D 59897260 59897269 1 15 323.368 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 4 3 4 19 26 19 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806173 10 59913848 GA G 480 PASS - - - - - Del - D 59913848 59913857 1 16 431.96 - - 8 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 1 7 2 9 23 33 23 33 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806257 10 60050384 T TA 420 PASS CISD1 CCDS7251.1 r.? - - Ins downstream I 60050384 60050391 1 14 373.751 - - 6 1 1 CISD1|CCDS7251.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CISD1|CCDS7251.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 6 4 7 34 20 34 20 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806414 10 60476489 AT A 287 PASS BICC1 CCDS31206.1 r.? - - Del intronic D 60476489 60476497 1 12 269.975 - - 7 1 1 BICC1|CCDS31206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BICC1|CCDS31206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 24 9 24 0 0 ./. 3 2 4 3 18 26 18 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806444 10 60557584 CA C 420 PASS BICC1 CCDS31206.1 r.? - - Del intronic D 60557584 60557594 1 18 377.965 - - 9 1 1 BICC1|CCDS31206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BICC1|CCDS31206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 2 5 2 28 27 28 27 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806458 10 60588184 CTATT C 420 PASS BICC1 CCDS31206.1 r.? - - Del intronic D 60588184 60588191 4 14 377.965 - - 1 1 1 BICC1|CCDS31206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BICC1|CCDS31206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 6 2 11 26 26 26 26 2 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806466 10 60605926 CTT C 300 PASS - - - - - Del - D 60605926 60605931 2 12 269.975 - - 4 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 4 3 22 33 22 33 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806514 10 60857988 TA T 300 PASS - - - - - Del - D 60857988 60857993 1 12 269.975 - - 4 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 2 5 2 26 20 26 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806521 10 60887602 A AT 300 PASS - - - - - Ins - I 60887602 60887610 1 12 265.761 - - 7 1 1 - - ./. 0 0 0 0 21 8 21 8 0 0 ./. 2 3 3 3 25 12 25 12 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806525 10 60908423 TA T 480 PASS - - - - - Del - D 60908423 60908426 1 24 431.96 - - 2 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 5 4 5 20 31 20 31 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806823 10 61878515 CAT C 420 PASS ANK3 CCDS7258.1 r.? - - Del intronic D 61878515 61878519 2 20 371.944 - - 1 1 1 ANK3|CCDS7258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANK3|CCDS7258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 4 3 6 7 19 7 19 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806881 10 62089563 CA C 583 PASS ANK3 CCDS7258.1 r.? - - Del intronic D 62089563 62089570 1 35 539.95 - - 6 1 1 ANK3|CCDS7258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANK3|CCDS7258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 6 4 8 29 28 29 28 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759806963 10 62355704 CA C 540 PASS ANK3 ENST00000373827 r.? - - Del intronic D 62355704 62355712 1 28 485.955 - - 7 1 1 ANK3|ENST00000373827|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANK3|ENST00000373827|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 6 3 6 5 22 29 22 29 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759807125 10 63232694 CA C 300 PASS - - - - - Del - D 63232694 63232704 1 10 269.373 - - 9 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 4 1 5 21 24 21 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759807269 10 63784415 AT A 360 PASS ARID5B CCDS31208.1 r.? - - Del intronic D 63784415 63784425 1 16 323.97 - - 9 1 1 ARID5B|CCDS31208.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARID5B|CCDS31208.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 3 4 3 24 20 24 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759807679 10 65043604 CA C 360 PASS JMJD1C CCDS41532.1 r.? - - Del intronic D 65043604 65043614 1 16 323.97 - - 9 1 1 JMJD1C|CCDS41532.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JMJD1C|CCDS41532.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 3 3 4 30 30 30 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759807725 10 65128905 T TTC 360 PASS JMJD1C CCDS41532.1 r.? - - Ins intronic I 65128905 65128917 2 15 316.745 - - 5 1 1 JMJD1C|CCDS41532.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 JMJD1C|CCDS41532.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 4 2 5 3 30 30 30 30 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759807857 10 65455786 TTTG T 360 PASS - - - - - Del - D 65455786 65455807 3 15 322.164 - - 6 1 - - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 2 4 2 5 26 24 26 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759807895 10 65573966 AT A 420 PASS - - - - - Del - D 65573966 65573976 1 20 377.965 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 4 4 5 34 27 34 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759807912 10 65601279 CGA C 420 PASS - - - - - Del - D 65601279 65601298 2 18 377.363 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 5 2 2 20 24 20 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808051 10 66225947 A AT 600 PASS - - - - - Ins - I 66225947 66225956 1 35 533.929 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 6 5 6 29 33 30 33 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808074 10 66326894 TG T 600 PASS - - - - - Del - D 66326894 66326899 1 36 538.746 - - 4 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 5 5 6 25 24 25 24 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808174 10 66677540 CCTT C 360 PASS - - - - - Del - D 66677540 66677546 3 12 323.97 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 5 1 6 21 27 21 27 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808288 10 67061461 G GAT 360 PASS - - - - - Ins - I 67061461 67061474 2 16 316.745 - - 6 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 3 3 5 4 26 26 27 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808451 10 67501943 G GT 300 PASS - - - - - Ins - I 67501943 67501951 1 10 266.965 - - 7 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 1 4 2 5 29 36 29 36 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808475 10 67643956 CT C 300 PASS - - - - - Del - D 67643956 67643962 1 12 269.975 - - 5 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 2 3 2 21 28 21 28 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808613 10 68160825 ATTG A 300 PASS CTNNA3 CCDS7269.1 r.? - - Del intronic D 68160825 68160834 3 10 269.975 - - 2 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 1 4 1 4 8 24 8 24 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808630 10 68268362 CT C 300 PASS CTNNA3 CCDS7269.1 r.? - - Del intronic D 68268362 68268369 1 6 269.975 - - 6 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 0 5 0 20 3 20 3 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808934 10 69141211 GA G 420 PASS CTNNA3 CCDS7269.1 r.? - - Del intronic D 69141211 69141220 1 20 377.965 - - 8 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 3 4 7 16 24 16 24 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808942 10 69170970 C CA 360 PASS CTNNA3 CCDS7269.1 r.? - - Ins intronic I 69170970 69170978 1 15 320.358 - - 7 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 4 2 4 22 25 22 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808980 10 69377194 AT A 360 PASS CTNNA3 CCDS7269.1 r.? - - Del intronic D 69377194 69377204 1 16 323.97 - - 9 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 3 3 4 4 30 27 30 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759808988 10 69390561 CA C 360 PASS CTNNA3 CCDS7269.1 r.? - - Del intronic D 69390561 69390571 1 15 323.368 - - 9 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 5 15 5 0 0 ./. 4 2 4 3 11 16 11 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759809010 10 69495392 TA T 300 PASS - - - - - Del - D 69495392 69495401 1 10 269.373 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 1 4 3 14 10 14 10 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759809107 10 69663308 AT A 420 PASS SIRT1 CCDS7273.1 r.? - - Del intronic D 69663308 69663318 1 14 376.761 - - 9 1 1 SIRT1|CCDS7273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SIRT1|CCDS7273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 6 1 8 1 27 22 27 22 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759809284 10 70107631 GA G 360 PASS RUFY2 CCDS41534.1 r.? - - Del intronic D 70107631 70107639 1 16 323.97 - - 7 1 1 RUFY2|CCDS41534.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RUFY2|CCDS41534.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 3 3 6 4 26 26 26 26 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759809579 10 70671949 CT C 300 PASS DDX50 CCDS7283.1 r.? - - Del intronic D 70671949 70671959 1 6 250.709 - - 9 1 - DDX50|CCDS7283.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DDX50|CCDS7283.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 5 0 7 0 33 8 33 8 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759809651 10 70801535 CT C 300 PASS - - - - - Del - D 70801535 70801545 1 12 269.975 - - 9 1 1 - - ./. 0 0 0 0 14 4 14 4 0 0 ./. 2 3 4 4 33 32 33 32 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759809680 10 70878118 CA C 360 PASS - - - - - Del - D 70878118 70878128 1 15 322.164 - - 9 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 4 2 5 9 22 9 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759809810 10 71127578 GT G 300 PASS HK1 CCDS7290.1 r.? - - Del intronic D 71127578 71127588 1 12 269.975 - - 9 1 1 HK1|CCDS7290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HK1|CCDS7290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 2 5 4 23 29 23 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759809892 10 71322349 CT C 360 PASS - - - - - Del - D 71322349 71322354 1 15 323.97 - - 4 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 2 4 6 7 22 26 22 26 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759809903 10 71375925 CT C 360 PASS - - - - - Del - D 71375925 71375934 1 12 323.97 - - 8 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 1 5 1 26 11 26 11 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759810074 10 72065392 TC T 360 PASS LRRC20 CCDS7302.1 r.? - - Del intronic D 72065392 72065399 1 15 323.97 - - 6 1 1 LRRC20|CCDS7302.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRC20|CCDS7302.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 4 4 5 20 19 20 19 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759810204 10 72306168 GT G 269 PASS KIAA1274 CCDS31215.1 r.? - - Del intronic D 72306168 72306177 1 12 269.975 - - 8 1 1 KIAA1274|CCDS31215.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1274|CCDS31215.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 2 3 5 27 24 27 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759810550 10 73553766 C CT 300 PASS CDH23 ENST00000398860 r.? - - Ins intronic I 73553766 73553776 1 12 266.363 - - 9 1 1 CDH23|ENST00000398860|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDH23|ENST00000398860|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 18 14 0 0 ./. 2 3 3 5 26 24 27 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759810553 10 73564532 AT A 300 PASS CDH23 ENST00000398860 r.? - - Del intronic D 73564532 73564540 1 12 269.975 - - 7 1 1 CDH23|ENST00000398860|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH23|ENST00000398860|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 3 3 3 32 19 32 19 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759810695 10 73940732 CT C 360 PASS ASCC1 CCDS31219.1 r.? - - Del intronic D 73940732 73940742 1 16 323.97 - - 9 1 1 ASCC1|CCDS31219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASCC1|CCDS31219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 3 3 4 18 18 18 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759810706 10 73964017 AT A 300 PASS ASCC1 CCDS31219.1 r.? - - Del intronic D 73964017 73964027 1 10 268.771 - - 9 1 1 ASCC1|CCDS31219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASCC1|CCDS31219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 4 1 8 5 14 5 14 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759810987 10 74660042 A AC 300 PASS OIT3 CCDS7318.1 r.? - - Ins intronic I 74660042 74660051 1 6 266.965 - - 8 1 1 OIT3|CCDS7318.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OIT3|CCDS7318.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 0 5 0 8 14 32 15 32 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759811080 10 75046223 CA C 300 PASS TTC18 CCDS7324.2 r.? - - Del intronic D 75046223 75046231 1 12 269.373 - - 7 1 - TTC18|CCDS7324.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC18|CCDS7324.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 5 3 23 25 23 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759811114 10 75199239 GA G 420 PASS PPP3CB CCDS7328.1 r.? - - Del intronic D 75199239 75199248 1 20 377.965 - - 8 1 1 PPP3CB|CCDS7328.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP3CB|CCDS7328.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 4 4 4 33 31 33 31 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759811122 10 75215337 CT C 360 PASS PPP3CB CCDS7328.1 r.? - - Del intronic D 75215337 75215347 1 12 323.368 - - 9 1 1 PPP3CB|CCDS7328.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP3CB|CCDS7328.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 1 7 2 33 25 33 25 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759811187 10 75407588 TG T 449 PASS SYNPO2L CCDS44438.1 r.1971delC c.1821delC p.S608fs*70 Del frameshift D 75407588 75407595 1 25 413.898 - - 6 1 1 SYNPO2L|CCDS44438.1|r.1971delC|c.1821delC|p.S608fs*70|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SYNPO2L|CCDS44438.1|r.1971delC|c.1821delC|p.S608fs*70|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 13 5 13 5 0 0 ./. 4 4 6 7 27 20 27 20 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759811361 10 75822826 TA T 300 PASS VCL CCDS7341.1 r.? - - Del intronic D 75822826 75822835 1 12 269.975 - - 8 1 1 VCL|CCDS7341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VCL|CCDS7341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 2 4 2 27 17 27 17 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759811381 10 75884211 CTG C 420 PASS AP3M1 CCDS7342.1 r.1090_1091delCA c.1081_1082delCA p.Q361fs*17 Del frameshift D 75884211 75884215 2 18 377.965 - - 1 1 1 AP3M1|CCDS7342.1|r.1090_1091delCA|c.1081_1082delCA|p.Q361fs*17|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 AP3M1|CCDS7342.1|r.1090_1091delCA|c.1081_1082delCA|p.Q361fs*17|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 5 11 5 11 0 0 ./. 2 5 2 7 25 29 25 29 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759811504 10 76105984 GT G 420 PASS ADK CCDS7344.1 r.? - - Del intronic D 76105984 76105994 1 8 377.965 - - 9 1 1 ADK|CCDS7344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADK|CCDS7344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 0 7 2 9 8 25 8 25 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759811535 10 76160651 CCTT C 360 PASS ADK CCDS7344.1 r.? - - Del intronic D 76160651 76160662 3 15 323.97 - - 3 1 1 ADK|CCDS7344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADK|CCDS7344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 4 2 5 16 29 16 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759811748 10 76832950 CCT C 420 PASS - - - - - Del - D 76832950 76832964 2 20 377.965 - - 6 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 3 4 3 30 26 30 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759811890 10 77238462 AT A 300 PASS C10orf11 ENST00000354343 r.? - - Del intronic D 77238462 77238470 1 12 269.975 - - 7 1 1 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 19 5 19 0 0 ./. 3 2 5 7 38 44 38 44 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759811990 10 77629914 GA G 360 PASS C10orf11 CCDS7351.1 r.? - - Del intronic D 77629914 77629923 1 16 323.97 - - 8 1 1 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 3 3 3 19 19 19 19 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759812042 10 77872021 TG T 300 PASS C10orf11 CCDS7351.1 r.? - - Del intronic D 77872021 77872028 1 10 269.975 - - 6 1 1 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 1 5 2 28 23 28 23 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759812194 10 78427546 CA C 480 PASS - - - - - Del - D 78427546 78427556 1 16 431.96 - - 9 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 1 7 2 8 8 24 8 24 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759812266 10 78704741 GA G 360 PASS KCNMA1 CCDS7352.1 r.? - - Del intronic D 78704741 78704751 1 16 320.358 - - 9 1 1 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 3 4 28 23 28 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759812400 10 79119882 TAAG T 480 PASS KCNMA1 CCDS7352.1 r.? - - Del intronic D 79119882 79119890 3 24 431.96 - - 2 1 1 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 5 3 7 3 26 23 26 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759812595 10 79734738 C CAT 480 PASS POLR3A CCDS7354.1 r.? - - Ins downstream I 79734738 79734748 2 21 422.327 - - 4 1 1 POLR3A|CCDS7354.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 POLR3A|CCDS7354.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 6 3 6 35 29 35 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759812634 10 79864629 CAGA C 266 PASS - - - - - Del - D 79864629 79864639 3 18 377.965 - - 3 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 5 3 8 23 33 23 33 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759812938 10 81358767 CA C 300 PASS - - - - - Del - D 81358767 81358775 1 12 269.975 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 3 5 4 25 14 25 14 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759812942 10 81389277 CTGAT C 356 PASS - - - - - Del - D 81389277 81389284 4 25 431.96 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 4 5 4 24 30 24 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759813360 10 82835951 AT A 360 PASS - - - - - Del - D 82835951 82835961 1 15 323.368 - - 9 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 4 2 5 2 18 2 18 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759813362 10 82839615 AT A 480 PASS - - - - - Del - D 82839615 82839625 1 24 431.96 - - 9 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 3 5 3 18 25 18 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759813695 10 84096753 C CT 480 PASS NRG3 CCDS31233.1 r.? - - Ins intronic I 84096753 84096763 1 24 427.143 - - 9 1 1 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 5 5 6 32 24 32 24 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759814017 10 85432025 TA T 300 PASS - - - - - Del - D 85432025 85432028 1 10 269.975 - - 2 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 1 4 1 5 13 28 13 28 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759814128 10 85756984 CA C 420 PASS - - - - - Del - D 85756984 85756994 1 18 377.965 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 2 9 3 26 27 26 27 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759814255 10 86239172 CA C 300 PASS FAM190B CCDS31235.1 r.? - - Del intronic D 86239172 86239178 1 12 269.975 - - 5 1 1 FAM190B|CCDS31235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190B|CCDS31235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 4 3 15 18 15 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759814601 10 87802846 CA C 360 PASS GRID1 CCDS31236.1 r.? - - Del intronic D 87802846 87802856 1 15 323.97 - - 9 1 1 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 2 6 4 23 34 23 34 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759814650 10 88154750 CA C 720 PASS - - - - - Del - D 88154750 88154760 1 48 647.338 - - 9 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 7 5 7 16 32 16 32 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759814781 10 88455968 G GC 360 PASS LDB3 CCDS41544.1 r.? - - Ins intronic I 88455968 88455976 1 12 320.358 - - 7 1 1 LDB3|CCDS41544.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LDB3|CCDS41544.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 5 1 6 2 23 44 23 44 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759814914 10 88802832 CT C 480 PASS AC025268.1 ENST00000513247 r.? - - Del intronic D 88802832 88802842 1 24 431.96 - - 9 1 1 AC025268.1|ENST00000513247|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC025268.1|ENST00000513247|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 5 4 9 23 25 23 25 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759814957 10 88909902 ACCT A 322 PASS FAM35A CCDS7383.1 r.? - - Del intronic D 88909902 88909915 3 15 320.358 - - 4 1 1 FAM35A|CCDS7383.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM35A|CCDS7383.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 2 4 3 5 19 20 19 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759815110 10 89528828 TA T 300 PASS ATAD1 CCDS7386.1 r.? - - Del intronic D 89528828 89528836 1 12 269.975 - - 7 1 1 ATAD1|CCDS7386.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATAD1|CCDS7386.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 4 3 22 14 22 14 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759815191 10 89848151 AT A 300 PASS - - - - - Del - D 89848151 89848159 1 10 269.975 - - 7 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 1 7 21 18 21 18 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759815231 10 90004292 TG T 360 PASS - - - - - Del - D 90004292 90004296 1 15 323.97 - - 3 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 2 5 2 28 28 28 28 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759815249 10 90094471 CT C 300 PASS RNLS CCDS7388.1 r.? - - Del intronic D 90094471 90094480 1 12 269.975 - - 8 1 1 RNLS|CCDS7388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNLS|CCDS7388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 3 4 16 22 16 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759815252 10 90105126 C CA 420 PASS RNLS CCDS7388.1 r.? - - Ins intronic I 90105126 90105133 1 20 373.75 - - 6 1 1 RNLS|CCDS7388.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNLS|CCDS7388.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 4 3 4 16 20 16 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759815368 10 90619891 AC A 480 PASS - - - - - Del - D 90619891 90619898 1 25 404.867 - - 6 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 4 4 3 25 32 25 32 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759815411 10 90751972 GA G 480 PASS FAS CCDS7393.1 r.? - - Del intronic D 90751972 90751982 1 9 431.96 - - 9 1 1 FAS|CCDS7393.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAS|CCDS7393.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 0 8 1 8 10 35 10 35 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759815436 10 90832520 CT C 300 PASS - - - - - Del - D 90832520 90832527 1 12 269.975 - - 6 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 3 4 18 26 18 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759815919 10 92538623 AT A 480 PASS HTR7 CCDS7408.1 r.? - - Del intronic D 92538623 92538630 1 25 431.96 - - 6 1 1 HTR7|CCDS7408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HTR7|CCDS7408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 4 7 5 34 25 34 25 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816012 10 92856740 G GT 300 PASS - - - - - Ins - I 92856740 92856743 1 12 266.965 - - 2 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 2 3 2 7 25 29 25 30 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816042 10 93005246 TG T 360 PASS PCGF5 CCDS7413.1 r.? - - Del intronic D 93005246 93005254 1 15 323.97 - - 7 1 1 PCGF5|CCDS7413.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCGF5|CCDS7413.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 2 7 4 28 31 28 31 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816055 10 93092134 GA G 420 PASS - - - - - Del - D 93092134 93092143 1 20 377.965 - - 8 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 3 4 4 5 32 19 32 19 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816140 10 93508045 A AT 449 PASS - - - - - Ins - I 93508045 93508054 1 24 421.123 - - 8 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 5 3 6 26 23 26 23 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816449 10 94288831 C CA 360 PASS IDE CCDS7421.1 r.? - - Ins intronic I 94288831 94288840 1 15 317.949 - - 8 1 - IDE|CCDS7421.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IDE|CCDS7421.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 9 14 0 0 ./. 2 4 2 6 29 28 29 28 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816542 10 94573564 TA T 300 PASS - - - - - Del - D 94573564 94573574 1 12 269.975 - - 9 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 4 2 29 24 29 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816572 10 94647992 TA T 389 PASS EXOC6 CCDS31247.1 r.? - - Del intronic D 94647992 94648002 1 20 377.965 - - 9 1 1 EXOC6|CCDS31247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC6|CCDS31247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 4 7 4 18 6 18 6 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816664 10 94907950 TA T 360 PASS - - - - - Del - D 94907950 94907958 1 16 323.97 - - 7 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 3 6 3 30 21 30 21 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816716 10 94984956 CCT C 389 PASS - - - - - Del - D 94984956 94984969 2 20 374.353 - - 6 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 4 3 5 20 29 20 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816848 10 95257031 CT C 600 PASS CEP55 CCDS7428.1 r.? - - Del intronic D 95257031 95257041 1 35 539.95 - - 9 1 1 CEP55|CCDS7428.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CEP55|CCDS7428.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 6 6 8 29 28 29 28 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816890 10 95319730 GT G 480 PASS - - - - - Del - D 95319730 95319738 1 24 431.96 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 3 6 5 27 25 27 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759816984 10 95615176 CT C 420 PASS - - - - - Del - D 95615176 95615183 1 18 377.965 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 2 5 3 30 18 30 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817195 10 96335874 CT C 269 PASS HELLS CCDS7434.1 r.? - - Del intronic D 96335874 96335884 1 12 263.352 - - 9 1 1 HELLS|CCDS7434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HELLS|CCDS7434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 2 7 2 26 18 26 18 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817229 10 96546600 AT A 360 PASS CYP2C19 CCDS7436.1 r.? - - Del intronic D 96546600 96546609 1 15 323.97 - - 8 1 1 CYP2C19|CCDS7436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYP2C19|CCDS7436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 2 4 3 30 18 30 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817230 10 96548950 GT G 300 PASS CYP2C19 CCDS7436.1 r.? - - Del intronic D 96548950 96548960 1 12 269.975 - - 9 1 1 CYP2C19|CCDS7436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYP2C19|CCDS7436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 3 2 6 4 37 26 37 26 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817256 10 96697799 AT A 300 PASS CYP2C9 CCDS7437.1 r.? - - Del upstream D 96697799 96697808 1 12 269.975 - - 8 1 1 CYP2C9|CCDS7437.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CYP2C9|CCDS7437.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 5 9 5 0 0 ./. 3 2 6 2 19 25 19 25 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817338 10 96962518 TA T 300 PASS C10orf129 CCDS7440.2 r.? - - Del intronic D 96962518 96962528 1 10 269.373 - - 9 1 1 C10orf129|CCDS7440.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf129|CCDS7440.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 1 4 3 5 12 27 12 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817409 10 97110956 CA C 420 PASS SORBS1 CCDS31255.1 r.2572+9delu c.2382+9delt p.? Del splice region D 97110956 97110961 1 20 377.965 - - 4 1 1 SORBS1|CCDS31255.1|r.2572+9delu|c.2382+9delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 SORBS1|CCDS31255.1|r.2572+9delu|c.2382+9delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 4 3 4 21 16 21 16 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817423 10 97139504 G GT 720 PASS SORBS1 CCDS31255.1 r.? - - Ins intronic I 97139504 97139509 1 40 640.715 - - 4 1 1 SORBS1|CCDS31255.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SORBS1|CCDS31255.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 9 3 9 4 32 24 33 24 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817458 10 97224178 TA T 420 PASS SORBS1 CCDS31255.1 r.? - - Del intronic D 97224178 97224183 1 18 377.363 - - 4 1 1 SORBS1|CCDS31255.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SORBS1|CCDS31255.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 5 3 5 24 22 24 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817543 10 97446556 GT G 480 PASS TCTN3 CCDS31258.2 r.? - - Del intronic D 97446556 97446561 1 24 431.358 - - 4 1 1 TCTN3|CCDS31258.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCTN3|CCDS31258.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 5 3 8 24 28 24 28 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817550 10 97480798 G GT 308 PASS ENTPD1 ENST00000453258 r.? - - Ins intronic I 97480798 97480808 1 24 427.143 - - 9 1 1 ENTPD1|ENST00000453258|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENTPD1|ENST00000453258|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 3 5 3 35 30 35 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817714 10 98046751 GT G 420 PASS - - - - - Del - D 98046751 98046761 1 20 377.965 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 3 5 6 23 26 23 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817769 10 98277148 AC A 300 PASS TLL2 CCDS7449.1 r.? - - Del upstream D 98277148 98277154 1 12 269.975 - - 5 1 1 TLL2|CCDS7449.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TLL2|CCDS7449.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 3 2 22 14 22 14 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759817827 10 98424131 CCTCT C 420 PASS PIK3AP1 CCDS31259.1 r.? - - Del intronic D 98424131 98424139 4 20 377.363 - - 3 1 1 PIK3AP1|CCDS31259.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIK3AP1|CCDS31259.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 3 6 3 18 22 18 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818047 10 99014496 TA T 300 PASS ARHGAP19 CCDS7454.2 r.? - - Del intronic D 99014496 99014502 1 10 266.965 - - 5 1 1 ARHGAP19|CCDS7454.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP19|CCDS7454.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 4 1 4 18 27 18 27 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818172 10 99307330 CT C 300 PASS UBTD1 CCDS7465.1 r.? - - Del intronic D 99307330 99307340 1 12 268.169 - - 9 1 - UBTD1|CCDS7465.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBTD1|CCDS7465.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 2 9 5 38 34 38 34 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818343 10 99864424 G GC 300 PASS - - - - - Ins - I 99864424 99864429 1 10 266.965 - - 4 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 1 4 1 21 20 21 20 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818384 10 100007091 AG A 389 PASS LOXL4 CCDS7473.1 r.? - - Del downstream D 100007091 100007097 1 18 377.965 - - 5 1 1 LOXL4|CCDS7473.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 LOXL4|CCDS7473.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 13 6 13 6 0 0 ./. 5 2 7 3 31 19 31 19 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818458 10 100278306 TG T 480 PASS HPSE2 CCDS7477.1 r.? - - Del intronic D 100278306 100278308 1 25 431.96 - - 1 1 1 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 4 4 4 5 22 29 22 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818483 10 100334209 TA T 720 PASS HPSE2 CCDS7477.1 r.? - - Del intronic D 100334209 100334215 1 48 647.94 - - 5 1 1 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 7 5 8 6 28 23 28 23 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818573 10 100592484 TA T 660 PASS HPSE2 CCDS7477.1 r.? - - Del intronic D 100592484 100592492 1 40 593.343 - - 7 1 1 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 7 4 7 5 31 33 31 33 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818652 10 100877889 CA C 480 PASS HPSE2 CCDS7477.1 r.? - - Del intronic D 100877889 100877899 1 24 431.96 - - 9 1 1 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 3 5 4 6 17 29 17 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818665 10 100911502 T TA 413 PASS HPSE2 CCDS7477.1 r.? - - Ins intronic I 100911502 100911512 1 20 368.934 - - 9 1 1 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 17 20 18 0 0 ./. 4 3 5 5 33 24 34 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818690 10 100969283 GA G 300 PASS HPSE2 CCDS7477.1 r.? - - Del intronic D 100969283 100969292 1 12 269.975 - - 8 1 1 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 3 2 4 24 20 24 20 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818696 10 100984534 C CA 269 PASS HPSE2 CCDS7477.1 r.? - - Ins intronic I 100984534 100984543 1 10 266.965 - - 8 1 1 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 4 0 6 7 32 7 32 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759818964 10 101626340 TTAGTC T 360 PASS - - - - - Del - D 101626340 101626349 5 15 322.164 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 4 2 5 2 32 22 32 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759819197 10 102395124 AT A 360 PASS - - - - - Del - D 102395124 102395132 1 12 323.368 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 5 2 9 28 26 28 26 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759819268 10 102675306 GT G 360 PASS FAM178A CCDS7500.1 r.? - - Del intronic D 102675306 102675316 1 16 323.97 - - 9 1 1 FAM178A|CCDS7500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM178A|CCDS7500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 21 6 21 0 0 ./. 3 3 3 4 9 35 9 35 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759819269 10 102677314 CT C 300 PASS FAM178A CCDS7500.1 r.? - - Del intronic D 102677314 102677324 1 10 269.975 - - 9 1 1 FAM178A|CCDS7500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM178A|CCDS7500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 4 1 19 16 19 16 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759819361 10 102998488 GT G 360 PASS - - - - - Del - D 102998488 102998498 1 16 323.97 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 3 4 3 22 21 22 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759819521 10 103391208 TA T 297 PASS FBXW4 CCDS31271.1 r.? - - Del intronic D 103391208 103391217 1 12 269.975 - - 8 1 1 FBXW4|CCDS31271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXW4|CCDS31271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 3 4 28 17 28 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759819532 10 103405497 A AT 360 PASS FBXW4 CCDS31271.1 r.? - - Ins intronic I 103405497 103405506 1 12 319.755 - - 8 1 1 FBXW4|CCDS31271.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBXW4|CCDS31271.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 16 0 0 ./. 5 1 6 4 30 17 30 17 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759819680 10 103838372 TA T 360 PASS - - - - - Del - D 103838372 103838382 1 16 323.97 - - 9 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 3 3 6 18 28 18 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759819793 10 104186820 CA C 480 PASS FBXL15 CCDS31273.1 r.? - - Del downstream D 104186820 104186830 1 24 431.96 - - 9 1 1 FBXL15|CCDS31273.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CUEDC2|CCDS41566.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 5 3 7 6 24 27 24 27 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759820048 10 104830699 C CG 360 PASS CNNM2 CCDS44474.1 r.? - - Ins intronic I 104830699 104830708 1 15 312.531 - - 8 1 1 CNNM2|CCDS44474.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNNM2|CCDS44474.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 4 3 7 28 36 29 36 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759820223 10 105371792 GT G 540 PASS SH3PXD2A CCDS31278.1 r.? - - Del intronic D 105371792 105371796 1 30 485.955 - - 3 1 1 SH3PXD2A|CCDS31278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3PXD2A|CCDS31278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 7 18 7 0 0 ./. 4 5 5 8 21 34 21 34 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759820243 10 105452683 AC A 300 PASS SH3PXD2A CCDS31278.1 r.? - - Del intronic D 105452683 105452692 1 10 265.761 - - 8 1 1 SH3PXD2A|CCDS31278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3PXD2A|CCDS31278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 4 4 5 16 32 16 32 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759820432 10 106186186 TC T 480 PASS CCDC147 CCDS31282.1 r.? - - Del intronic D 106186186 106186193 1 25 431.358 - - 6 1 1 CCDC147|CCDS31282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC147|CCDS31282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 4 20 4 0 0 ./. 4 4 4 5 19 22 19 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759820563 10 106686183 TA T 360 PASS SORCS3 CCDS7558.1 r.? - - Del intronic D 106686183 106686193 1 15 323.97 - - 9 1 1 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 4 3 4 27 25 27 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759820648 10 107077954 C CT 300 PASS - - - - - Ins - I 107077954 107077963 1 10 266.965 - - 8 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 1 4 1 4 8 24 8 24 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759820653 10 107098048 TA T 300 PASS - - - - - Del - D 107098048 107098055 1 12 269.975 - - 6 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 3 2 4 25 25 25 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759820685 10 107261380 CA C 300 PASS - - - - - Del - D 107261380 107261390 1 6 269.975 - - 9 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 0 5 3 24 14 24 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759820887 10 107992608 CT C 960 PASS - - - - - Del - D 107992608 107992617 1 77 863.92 - - 8 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 6 10 6 11 12 26 12 26 6 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759820936 10 108115390 TA T 300 PASS - - - - - Del - D 108115390 108115399 1 12 269.975 - - 8 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 2 5 2 31 23 31 23 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759820959 10 108229258 CA C 358 PASS - - - - - Del - D 108229258 108229268 1 14 377.965 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 1 6 2 6 17 24 17 24 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759821161 10 108970937 AT A 420 PASS - - - - - Del - D 108970937 108970947 1 20 377.363 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 3 5 6 26 30 26 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759821314 10 109494728 C CA 300 PASS - - - - - Ins - I 109494728 109494737 1 12 266.965 - - 8 1 1 - - ./. 0 0 0 0 12 18 13 18 0 0 ./. 2 3 2 3 17 15 17 15 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759821434 10 109735950 TG T 300 PASS - - - - - Del - D 109735950 109735956 1 12 269.975 - - 5 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 3 3 5 11 29 11 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759821506 10 110005059 CT C 300 PASS - - - - - Del - D 110005059 110005064 1 10 269.975 - - 4 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 1 6 2 24 24 24 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759821744 10 110775884 GA G 354 PASS - - - - - Del - D 110775884 110775893 1 15 323.97 - - 8 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 4 2 5 9 25 9 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759821750 10 110814414 CT C 540 PASS - - - - - Del - D 110814414 110814423 1 30 485.955 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 5 6 5 29 19 29 19 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759821762 10 110870833 GT G 360 PASS - - - - - Del - D 110870833 110870838 1 12 323.97 - - 4 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 1 5 1 6 7 26 7 26 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759821778 10 110934757 AT A 540 PASS - - - - - Del - D 110934757 110934765 1 30 485.955 - - 7 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 4 6 5 40 27 40 27 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759821838 10 111246972 T TA 300 PASS - - - - - Ins - I 111246972 111246981 1 10 266.965 - - 8 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 1 4 1 5 26 26 27 26 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759822014 10 111967927 TC T 300 PASS MXI1 CCDS7563.1 r.? - - Del intronic D 111967927 111967937 1 10 266.965 - - 9 1 1 MXI1|CCDS7563.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MXI1|CCDS7563.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 1 4 3 5 24 18 24 18 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759822072 10 112121862 TG T 300 PASS - - - - - Del - D 112121862 112121869 1 10 269.975 - - 6 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 1 5 2 23 8 23 8 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759822091 10 112183382 GT G 360 PASS - - - - - Del - D 112183382 112183387 1 16 323.97 - - 4 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 3 5 6 14 36 14 36 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759822303 10 112851157 TA T 660 PASS - - - - - Del - D 112851157 112851167 1 42 593.945 - - 9 1 1 - - ./. 0 0 0 0 8 21 8 21 0 0 ./. 6 5 7 6 31 34 31 34 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759822516 10 113513262 C CT 300 PASS - - - - - Ins - I 113513262 113513272 1 6 266.363 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 0 5 0 5 3 21 3 21 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759822601 10 113851133 AT A 300 PASS - - - - - Del - D 113851133 113851143 1 12 269.975 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 5 2 22 17 22 17 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759822900 10 114856698 AC A 420 PASS TCF7L2 CCDS7576.1 r.? - - Del intronic D 114856698 114856705 1 18 366.526 - - 6 1 1 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 5 5 5 18 26 18 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759822913 10 114893156 AC A 600 PASS TCF7L2 CCDS7576.1 r.? - - Del intronic D 114893156 114893163 1 32 539.95 - - 6 1 1 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 7 3 7 4 29 24 29 24 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823239 10 115990661 C CA 420 PASS TDRD1 CCDS7588.1 r.? - - Ins intronic I 115990661 115990670 1 20 373.75 - - 8 1 1 TDRD1|CCDS7588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TDRD1|CCDS7588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 3 4 5 28 42 28 42 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823240 10 115990825 CA C 329 PASS TDRD1 CCDS7588.1 r.? - - Del intronic D 115990825 115990833 1 15 322.766 - - 7 1 1 TDRD1|CCDS7588.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TDRD1|CCDS7588.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 21 11 21 0 0 ./. 4 2 4 2 24 30 24 30 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823262 10 116062576 GTTAA G 420 PASS AFAP1L2 CCDS31287.1 r.? - - Del intronic D 116062576 116062586 4 18 377.965 - - 2 1 1 AFAP1L2|CCDS31287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFAP1L2|CCDS31287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 2 6 4 27 19 27 19 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823269 10 116078343 CA C 360 PASS AFAP1L2 CCDS31287.1 r.? - - Del intronic D 116078343 116078353 1 16 322.164 - - 9 1 1 AFAP1L2|CCDS31287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFAP1L2|CCDS31287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 3 3 7 21 24 21 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823494 10 116701552 AT A 540 PASS TRUB1 CCDS7591.1 r.? - - Del intronic D 116701552 116701562 1 30 483.547 - - 9 1 1 TRUB1|CCDS7591.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRUB1|CCDS7591.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 4 5 6 25 22 25 22 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823539 10 116890287 TA T 360 PASS ATRNL1 CCDS7592.1 r.? - - Del intronic D 116890287 116890294 1 16 323.97 - - 6 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 3 4 3 28 18 28 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823562 10 116973375 T TG 300 PASS ATRNL1 CCDS7592.1 r.? - - Ins intronic I 116973375 116973382 1 12 266.965 - - 6 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 3 2 4 2 19 33 19 35 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823592 10 117079152 C CT 480 PASS ATRNL1 CCDS7592.1 r.? - - Ins intronic I 117079152 117079162 1 24 426.541 - - 9 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 5 3 7 7 21 37 22 37 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823598 10 117094865 AT A 300 PASS ATRNL1 CCDS7592.1 r.? - - Del intronic D 117094865 117094875 1 10 269.975 - - 9 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 1 4 1 28 7 28 7 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823619 10 117200286 GA G 300 PASS ATRNL1 CCDS7592.1 r.? - - Del intronic D 117200286 117200296 1 12 269.975 - - 9 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 2 3 2 27 16 27 16 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823686 10 117437292 AG A 540 PASS ATRNL1 CCDS7592.1 r.? - - Del intronic D 117437292 117437298 1 30 484.751 - - 5 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 5 5 5 19 23 19 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823694 10 117488538 G GA 360 PASS ATRNL1 CCDS7592.1 r.? - - Ins intronic I 117488538 117488547 1 15 320.358 - - 8 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 15 0 0 ./. 2 4 3 4 24 17 24 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823722 10 117557429 C CT 300 PASS ATRNL1 CCDS7592.1 r.? - - Ins intronic I 117557429 117557439 1 12 266.965 - - 9 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 4 3 24 25 24 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759823950 10 118289836 TA T 300 PASS - - - - - Del - D 118289836 118289842 1 12 269.975 - - 5 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 4 2 14 7 14 7 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759824058 10 118601411 CA C 420 PASS - - - - - Del - D 118601411 118601421 1 14 377.965 - - 9 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 6 1 6 1 24 6 24 6 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759824140 10 118849936 G GT 420 PASS - - - - - Ins - I 118849936 118849941 1 14 373.751 - - 4 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 6 3 7 21 31 21 31 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759824308 10 119300758 AT A 300 PASS EMX2 CCDS7601.1 r.? - - Del upstream D 119300758 119300768 1 10 269.975 - - 9 1 1 EMX2|CCDS7601.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 EMX2|CCDS7601.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 5 8 5 8 0 0 ./. 1 4 1 6 11 25 11 25 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759824324 10 119324757 TG T 509 PASS - - - - - Del - D 119324757 119324765 1 30 484.751 - - 7 1 1 - - ./. 0 0 0 0 15 5 15 5 0 0 ./. 4 5 6 6 24 33 24 33 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759824385 10 119503967 CT C 540 PASS - - - - - Del - D 119503967 119503977 1 30 484.751 - - 9 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 4 5 7 6 24 28 24 28 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759824568 10 120063336 G GA 300 PASS C10orf84 CCDS7605.1 r.? - - Ins downstream I 120063336 120063345 1 12 258.536 - - 8 1 1 C10orf84|CCDS7605.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 C10orf84|CCDS7605.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 5 2 31 26 31 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759824616 10 120204437 CA C 300 PASS - - - - - Del - D 120204437 120204447 1 10 269.975 - - 9 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 1 4 2 6 17 25 17 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759824758 10 120614551 GA G 300 PASS - - - - - Del - D 120614551 120614557 1 10 269.975 - - 5 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 1 6 3 32 23 32 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759824893 10 120886283 AT A 420 PASS FAM45A CCDS7609.1 r.? - - Del intronic D 120886283 120886293 1 20 376.761 - - 9 1 1 FAM45A|CCDS7609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM45A|CCDS7609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 4 4 4 25 24 25 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759825054 10 121273446 TA T 300 PASS RGS10 CCDS41572.1 r.? - - Del intronic D 121273446 121273455 1 6 269.975 - - 8 1 1 RGS10|CCDS41572.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS10|CCDS41572.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 0 8 0 24 11 24 11 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759825200 10 121573470 CT C 300 PASS INPP5F CCDS7616.1 r.? - - Del intronic D 121573470 121573480 1 10 268.771 - - 9 1 1 INPP5F|CCDS7616.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INPP5F|CCDS7616.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 1 5 4 22 29 22 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759825306 10 121843734 TA T 420 PASS - - - - - Del - D 121843734 121843743 1 18 368.934 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 2 7 3 31 30 31 30 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759825455 10 122314606 TG T 480 PASS PPAPDC1A CCDS41573.1 r.? - - Del intronic D 122314606 122314612 1 21 431.96 - - 5 1 1 PPAPDC1A|CCDS41573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPAPDC1A|CCDS41573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 2 8 4 25 34 25 34 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759825462 10 122336696 CT C 300 PASS PPAPDC1A CCDS41573.1 r.? - - Del intronic D 122336696 122336706 1 10 269.975 - - 9 1 1 PPAPDC1A|CCDS41573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPAPDC1A|CCDS41573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 4 3 5 32 31 32 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759825524 10 122500110 TA T 300 PASS - - - - - Del - D 122500110 122500117 1 10 269.373 - - 6 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 4 2 4 11 27 11 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759825792 10 123294968 CT C 360 PASS FGFR2 CCDS44486.1 r.? - - Del intronic D 123294968 123294976 1 16 323.97 - - 7 1 1 FGFR2|CCDS44486.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGFR2|CCDS44486.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 3 3 5 20 20 20 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759826148 10 123920466 CT C 300 PASS TACC2 CCDS7626.1 r.? - - Del intronic D 123920466 123920475 1 12 269.975 - - 8 1 1 TACC2|CCDS7626.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TACC2|CCDS7626.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 8 21 8 0 0 ./. 3 2 5 2 24 14 24 14 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759826305 10 124442386 CA C 420 PASS ENSG00000214308 ENST00000398072 r.? - - Del downstream D 124442386 124442396 1 20 377.965 - - 9 1 1 ENSG00000214308|ENST00000398072|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000214308|ENST00000398072|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 4 6 5 34 27 34 27 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759826430 10 124931986 C CA 360 PASS - - - - - Ins - I 124931986 124931993 1 12 320.358 - - 6 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 5 1 5 23 40 23 40 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759826529 10 125295528 GA G 420 PASS - - - - - Del - D 125295528 125295537 1 18 374.955 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 5 3 7 17 27 17 27 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759826596 10 125479173 GT G 360 PASS CPXM2 ENST00000368854 r.? - - Del intronic D 125479173 125479183 1 15 322.766 - - 9 1 1 CPXM2|ENST00000368854|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPXM2|ENST00000368854|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 4 2 6 8 24 8 24 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759826626 10 125558144 GA G 480 PASS CPXM2 CCDS7637.1 r.? - - Del intronic D 125558144 125558150 1 24 431.358 - - 5 1 1 CPXM2|CCDS7637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPXM2|CCDS7637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 3 5 6 35 33 35 33 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759826699 10 125809333 CT C 300 PASS CHST15 CCDS7638.1 r.? - - Del intronic D 125809333 125809339 1 10 269.975 - - 5 1 1 CHST15|CCDS7638.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHST15|CCDS7638.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 4 2 4 15 19 15 19 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759826771 10 126051072 GA G 660 PASS - - - - - Del - D 126051072 126051079 1 42 593.945 - - 6 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 5 6 8 38 31 38 31 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759826780 10 126083411 TAC T 480 PASS OAT CCDS7639.1 r.? - - Del downstream D 126083411 126083423 2 21 431.96 - - 5 1 1 OAT|CCDS7639.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OAT|CCDS7639.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 6 2 7 30 27 30 27 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759826846 10 126207523 GT G 389 PASS LHPP CCDS7640.1 r.? - - Del intronic D 126207523 126207531 1 20 377.965 - - 7 1 - LHPP|CCDS7640.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHPP|CCDS7640.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 3 5 3 33 22 33 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759827060 10 126667164 GA G 300 PASS ZRANB1 CCDS7642.1 r.? - - Del intronic D 126667164 126667172 1 12 269.975 - - 7 1 1 ZRANB1|CCDS7642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZRANB1|CCDS7642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 3 3 3 16 19 16 19 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759827274 10 127352482 AC A 540 PASS C10orf122 CCDS44493.1 r.? - - Del intronic D 127352482 127352489 1 28 485.955 - - 6 1 1 C10orf122|CCDS44493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf122|CCDS44493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 3 6 3 26 24 26 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759827597 10 127766305 CA C 540 PASS ADAM12 CCDS7653.1 r.? - - Del intronic D 127766305 127766311 1 30 484.751 - - 5 1 1 ADAM12|CCDS7653.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM12|CCDS7653.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 5 4 5 25 26 25 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759827638 10 127869141 T TA 360 PASS ADAM12 CCDS7653.1 r.? - - Ins intronic I 127869141 127869150 1 16 320.358 - - 8 1 1 ADAM12|CCDS7653.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAM12|CCDS7653.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 11 20 12 0 0 ./. 3 3 5 4 23 22 23 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759827675 10 127987237 TA T 300 PASS ADAM12 CCDS7653.1 r.? - - Del intronic D 127987237 127987246 1 12 269.975 - - 8 1 1 ADAM12|CCDS7653.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM12|CCDS7653.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 27 13 27 0 0 ./. 2 3 2 5 9 23 9 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759827797 10 128438638 AC A 420 PASS - - - - - Del - D 128438638 128438646 1 18 371.342 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 5 3 5 12 24 12 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759827951 10 128963429 AT A 360 PASS DOCK1 ENST00000398025 r.? - - Del intronic D 128963429 128963436 1 15 323.97 - - 6 1 1 DOCK1|ENST00000398025|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AL390920.1|ENST00000355226|r.860delA|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 2 6 2 29 22 29 22 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828033 10 129148500 TA T 360 PASS DOCK1 ENST00000398025 r.? - - Del intronic D 129148500 129148510 1 12 320.96 - - 9 1 1 DOCK1|ENST00000398025|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK1|ENST00000398025|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 5 3 6 21 16 21 16 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828045 10 129173122 TC T 420 PASS DOCK1 ENST00000398025 r.? - - Del intronic D 129173122 129173130 1 20 373.148 - - 7 1 1 DOCK1|ENST00000398025|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK1|ENST00000398025|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 3 8 4 35 22 35 22 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828214 10 129634917 TG T 420 PASS - - - - - Del - D 129634917 129634924 1 20 377.965 - - 6 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 4 6 6 18 14 18 14 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828289 10 129968917 AT A 360 PASS - - - - - Del - D 129968917 129968927 1 15 323.97 - - 9 1 1 - - ./. 0 0 0 0 19 6 19 6 0 0 ./. 2 4 3 5 11 16 11 16 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828337 10 130132158 GT G 300 PASS - - - - - Del - D 130132158 130132166 1 10 269.975 - - 7 1 - - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 1 5 2 28 31 28 31 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828359 10 130208718 AT A 420 PASS - - - - - Del - D 130208718 130208728 1 20 377.965 - - 9 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 3 4 4 22 25 22 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828365 10 130239691 CA C 480 PASS - - - - - Del - D 130239691 130239700 1 16 431.96 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 7 1 8 3 32 22 32 22 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828380 10 130272809 GT G 300 PASS - - - - - Del - D 130272809 130272818 1 12 269.975 - - 8 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 3 4 3 25 21 25 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828580 10 130935499 A AG 420 PASS - - - - - Ins - I 130935499 130935507 1 18 373.751 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 2 6 3 23 35 23 35 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828628 10 131098331 AG A 300 PASS - - - - - Del - D 131098331 131098335 1 10 269.975 - - 3 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 1 4 4 26 24 26 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828664 10 131224785 TA T 480 PASS - - - - - Del - D 131224785 131224794 1 25 431.96 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 4 5 4 34 35 34 35 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828695 10 131357817 CT C 540 PASS MGMT CCDS7660.2 r.? - - Del intronic D 131357817 131357826 1 28 485.353 - - 8 1 1 MGMT|CCDS7660.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MGMT|CCDS7660.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 3 7 3 34 15 34 15 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828751 10 131589165 TG T 300 PASS - - - - - Del - D 131589165 131589172 1 12 269.975 - - 6 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 3 2 4 18 28 18 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828785 10 131710890 AT A 300 PASS EBF3 CCDS31314.1 r.? - - Del intronic D 131710890 131710897 1 12 269.975 - - 6 1 1 EBF3|CCDS31314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EBF3|CCDS31314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 3 37 33 37 33 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828801 10 131769835 GT G 420 PASS - - - - - Del - D 131769835 131769837 1 20 374.955 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 4 3 4 24 26 24 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759828876 10 131996964 AT A 480 PASS - - - - - Del - D 131996964 131996974 1 24 431.96 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 5 3 6 21 23 21 23 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759829708 10 134739780 AG A 420 PASS C10orf92 CCDS7672.2 r.? - - Del downstream D 134739780 134739786 1 20 373.148 - - 5 1 1 C10orf92|CCDS7672.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C10orf92|ENST00000368586|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 3 5 6 30 30 30 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759829807 10 135079924 CA C 540 PASS - - - - - Del - D 135079924 135079934 1 28 484.751 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 3 7 3 37 23 37 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759830306 11 743960 AT A 329 PASS TALDO1 CCDS7712.1 r.? - - Del upstream D 743960 743969 1 12 317.85 - - 8 1 1 TALDO1|CCDS7712.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TALDO1|CCDS7712.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 9 8 9 0 0 ./. 1 5 1 6 20 24 20 24 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759830450 11 1141004 GT G 300 PASS MUC5B ENST00000406844 r.? - - Del upstream D 1141004 1141013 1 12 270.394 - - 8 1 1 MUC5B|ENST00000406844|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 MUC5B|ENST00000406844|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 3 10 3 0 0 ./. 2 3 5 6 33 30 33 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759830588 11 1679187 CT C 300 PASS - - - - - Del - D 1679187 1679196 1 10 270.394 - - 8 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 4 1 7 3 26 25 26 25 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759830606 11 1713710 AG A 480 PASS KRTAP5-6 CCDS31332.1 r.? - - Del upstream D 1713710 1713716 1 21 432.63 - - 5 1 1 KRTAP5-6|CCDS31332.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KRTAP5-6|CCDS31332.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 3 10 3 0 0 ./. 2 6 3 7 19 24 19 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759830620 11 1760832 AAC A 420 PASS ENSG00000244242 ENST00000382123 r.? - - Del intronic D 1760832 1760836 2 8 378.551 - - 1 1 1 ENSG00000244242|ENST00000382123|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000244242|ENST00000382123|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 0 7 1 7 17 29 17 29 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759830689 11 1962381 CA C 420 PASS TNNT3 CCDS41596.1 r.? - - Del downstream D 1962381 1962387 1 20 376.143 - - 5 1 1 TNNT3|CCDS41596.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MRPL23|ENST00000228013|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 4 3 4 15 20 15 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759830800 11 2331792 CTG C 480 PASS TSPAN32 CCDS7733.1 r.? - - Del intronic D 2331792 2331798 2 24 431.426 - - 2 1 1 TSPAN32|CCDS7733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSPAN32|CCDS7733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 3 5 4 32 30 32 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759830894 11 2689905 CAG C 360 PASS KCNQ1 CCDS7736.1 r.? - - Del intronic D 2689905 2689917 2 7 324.472 - - 5 1 1 KCNQ1|CCDS7736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ1|CCDS7736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 0 6 0 8 17 27 17 27 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759830947 11 2914088 CTG C 509 PASS - - - - - Del - D 2914088 2914093 2 28 481.892 - - 2 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 6 4 7 21 31 21 31 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759831037 11 3107076 TA T 540 PASS OSBPL5 CCDS31344.1 r.? - - Del downstream D 3107076 3107086 1 30 484.903 - - 9 1 1 OSBPL5|CCDS31344.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OSBPL5|CCDS31344.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 5 6 6 26 30 26 30 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759831373 11 4037339 TGGA T 269 PASS STIM1 CCDS7749.1 r.? - - Del intronic D 4037339 4037347 3 10 270.394 - - 2 1 1 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 4 2 5 23 25 23 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759831573 11 4589354 CA C 360 PASS C11orf40 CCDS31354.1 r.? - - Del downstream D 4589354 4589361 1 16 324.472 - - 6 1 1 C11orf40|CCDS31354.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C11orf40|CCDS31354.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 3 6 18 31 18 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759831844 11 5286385 TA T 420 PASS HBG2 CCDS7755.1 r.? - - Del intronic D 5286385 5286394 1 18 377.347 - - 8 1 1 HBG2|CCDS7755.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HBG2|CCDS7755.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 5 2 5 4 24 26 24 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759831880 11 5362938 AT A 360 PASS HBG2 CCDS7755.1 r.? - - Del intronic D 5362938 5362948 1 15 324.472 - - 9 1 1 HBG2|CCDS7755.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HBG2|CCDS7755.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 4 5 5 27 29 27 29 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759832084 11 5699144 GGTAA G 269 PASS TRIM5 CCDS31394.1 r.? - - Del intronic D 5699144 5699151 4 10 270.394 - - 1 1 1 TRIM5|CCDS31394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIM5|CCDS31394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 1 4 1 25 16 25 16 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759832152 11 5892940 TA T 420 PASS TRIM5 CCDS31392.1 r.? - - Del intronic D 5892940 5892949 1 20 378.551 - - 8 1 1 TRIM5|CCDS31392.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRIM5|CCDS31392.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 3 6 5 25 24 25 24 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759832382 11 6636017 C CA 420 PASS TPP1 CCDS7770.1 r.? - - Ins intronic I 6636017 6636019 1 20 373.735 - - 1 1 1 TPP1|CCDS7770.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TPP1|CCDS7770.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 3 4 3 5 23 35 23 35 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759832614 11 7355865 C CTCGCTGCCACCCATCCCCCCAA 319 PASS SYT9 CCDS7778.1 r.? - - Ins intronic I 7355865 7355868 22 12 447.964 - - 0 1 1 SYT9|CCDS7778.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SYT9|CCDS7778.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 8 7 13 0 0 ./. 11 0 3 2 10 16 20 28 11 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759832689 11 7569248 TA T 329 PASS PPFIBP2 CCDS31419.1 r.? - - Del intronic D 7569248 7569258 1 16 324.472 - - 9 1 1 PPFIBP2|CCDS31419.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PPFIBP2|CCDS31419.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 3 4 5 20 32 20 32 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759832705 11 7598085 CT C 360 PASS PPFIBP2 CCDS31419.1 r.? - - Del intronic D 7598085 7598094 1 16 324.472 - - 8 1 1 PPFIBP2|CCDS31419.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPFIBP2|CCDS31419.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 3 3 5 4 24 29 24 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759832736 11 7726474 GA G 480 PASS OVCH2 ENST00000454689 r.? - - Del intronic D 7726474 7726481 1 25 432.63 - - 6 1 1 OVCH2|ENST00000454689|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OVCH2|ENST00000454689|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 4 6 5 28 18 28 18 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759832754 11 7807174 C CA 300 PASS - - - - - Ins - I 7807174 7807183 1 12 266.179 - - 8 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 2 4 3 23 27 23 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759832951 11 8358842 CCTTT C 360 PASS - - - - - Del - D 8358842 8358850 4 7 324.472 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 0 6 2 6 15 36 15 36 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759832995 11 8547619 G GA 420 PASS STK33 CCDS7789.1 r.? - - Ins intronic I 8547619 8547626 1 18 374.337 - - 6 1 1 STK33|CCDS7789.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 STK33|CCDS7789.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 2 6 3 23 22 23 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833078 11 8770484 GA G 660 PASS ST5 CCDS7791.1 r.? - - Del intronic D 8770484 8770494 1 42 594.866 - - 9 1 1 ST5|CCDS7791.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST5|CCDS7791.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 20 8 20 0 0 ./. 5 6 5 7 15 29 15 29 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833108 11 8828070 CA C 300 PASS ST5 CCDS7791.1 r.? - - Del intronic D 8828070 8828078 1 10 270.394 - - 7 1 1 ST5|CCDS7791.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ST5|CCDS7791.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 1 4 2 4 13 30 13 30 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833115 11 8834673 G GT 300 PASS ST5 CCDS7791.1 r.? - - Ins intronic I 8834673 8834681 1 10 267.383 - - 7 1 1 ST5|CCDS7791.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ST5|CCDS7791.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 9 16 0 0 ./. 1 4 2 5 23 22 24 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833207 11 9004001 TC T 389 PASS NRIP3 CCDS31422.1 r.1930delG c.? p.? Del 3'UTR variant D 9004001 9004008 1 20 378.551 - - 6 1 1 NRIP3|CCDS31422.1|r.1930delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 NRIP3|CCDS31422.1|r.1930delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 3 6 4 19 24 19 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833290 11 9232574 CAAG C 329 PASS DENND5A CCDS31423.1 r.? - - Del intronic D 9232574 9232582 3 16 323.87 - - 2 1 1 DENND5A|CCDS31423.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DENND5A|CCDS31423.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 3 5 4 15 27 15 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833296 11 9242283 TA T 360 PASS DENND5A CCDS31423.1 r.? - - Del intronic D 9242283 9242291 1 7 324.472 - - 7 1 1 DENND5A|CCDS31423.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DENND5A|CCDS31423.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 6 0 6 0 20 1 20 1 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833483 11 9578315 GA G 600 PASS - - - - - Del - D 9578315 9578323 1 32 540.787 - - 7 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 7 6 7 32 32 32 32 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833564 11 9760415 GA G 780 PASS SWAP70 CCDS31426.1 r.? - - Del intronic D 9760415 9760425 1 54 703.024 - - 9 1 1 SWAP70|CCDS31426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SWAP70|CCDS31426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 8 5 10 26 37 26 37 5 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833635 11 9924907 GA G 337 PASS SBF2 CCDS31427.1 r.? - - Del intronic D 9924907 9924916 1 15 324.472 - - 8 1 1 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 2 5 3 30 25 30 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833645 11 9936454 TG T 480 PASS SBF2 CCDS31427.1 r.? - - Del intronic D 9936454 9936463 1 21 428.416 - - 8 1 1 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 6 2 7 10 25 10 25 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833682 11 10019324 CA C 269 PASS SBF2 CCDS31427.1 r.? - - Del intronic D 10019324 10019334 1 12 270.394 - - 9 1 1 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 2 3 2 6 23 21 23 21 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759833854 11 10481822 CT C 300 PASS AMPD3 CCDS44537.1 r.? - - Del intronic D 10481822 10481829 1 6 269.19 - - 6 1 1 AMPD3|CCDS44537.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AMPD3|CCDS44537.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 0 12 0 0 0 ./. 5 0 6 0 28 0 28 0 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759834122 11 11244263 CT C 360 PASS - - - - - Del - D 11244263 11244273 1 15 323.87 - - 9 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 4 5 5 24 21 24 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759834376 11 12114300 AAGG A 327 PASS - - - - - Del - D 12114300 12114307 3 18 378.551 - - 2 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 5 2 5 17 23 17 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759834482 11 12449150 AT A 360 PASS PARVA CCDS44541.1 r.? - - Del intronic D 12449150 12449160 1 15 323.87 - - 9 1 1 PARVA|CCDS44541.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARVA|CCDS44541.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 2 4 3 4 28 15 28 15 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759834624 11 12856717 G GT 420 PASS TEAD1 CCDS7810.1 r.? - - Ins intronic I 12856717 12856726 1 18 374.337 - - 8 1 1 TEAD1|CCDS7810.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TEAD1|CCDS7810.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 2 5 2 23 28 23 28 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759834634 11 12864272 AT A 300 PASS TEAD1 CCDS7810.1 r.? - - Del intronic D 12864272 12864282 1 10 270.394 - - 9 1 1 TEAD1|CCDS7810.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TEAD1|CCDS7810.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 1 4 3 4 20 30 20 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759834865 11 13541597 G GA 480 PASS - - - - - Ins - I 13541597 13541607 1 21 427.814 - - 9 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 6 2 7 3 35 27 37 27 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759834871 11 13565795 CT C 342 PASS - - - - - Del - D 13565795 13565805 1 21 432.63 - - 9 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 6 2 10 3 34 21 34 21 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759834963 11 13856975 GT G 449 PASS - - - - - Del - D 13856975 13856983 1 25 432.63 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 4 6 4 32 30 32 30 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835012 11 14081646 AC A 480 PASS SPON1 ENST00000310358 r.? - - Del intronic D 14081646 14081654 1 25 431.426 - - 7 1 1 SPON1|ENST00000310358|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPON1|ENST00000310358|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 4 4 8 30 22 30 22 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835018 11 14102301 CT C 300 PASS SPON1 ENST00000310358 r.? - - Del intronic D 14102301 14102310 1 10 259.557 - - 8 1 1 SPON1|ENST00000310358|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPON1|ENST00000310358|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 1 4 2 4 27 24 27 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835078 11 14291151 C CA 360 PASS SPON1 ENST00000310358 r.? - - Ins downstream I 14291151 14291160 1 16 320.86 - - 8 1 1 SPON1|ENST00000310358|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SPON1|ENST00000310358|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 5 15 5 15 0 0 ./. 3 3 4 3 20 23 20 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835084 11 14312000 GA G 300 PASS RRAS2 CCDS7814.1 r.? - - Del intronic D 14312000 14312009 1 12 270.394 - - 8 1 1 RRAS2|CCDS7814.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RRAS2|CCDS7814.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 2 5 3 26 31 26 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835152 11 14488919 CA C 300 PASS COPB1 CCDS7815.1 r.? - - Del intronic D 14488919 14488929 1 10 270.394 - - 9 1 1 COPB1|CCDS7815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COPB1|CCDS7815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 1 5 1 21 24 21 24 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835259 11 15035934 GT G 300 PASS CALCB CCDS7820.1 r.? - - Del intronic D 15035934 15035943 1 10 270.394 - - 8 1 1 CALCB|CCDS7820.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CALCB|CCDS7820.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 4 1 6 3 27 27 27 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835266 11 15099532 CT C 300 PASS CALCB CCDS7820.1 r.? - - Del intronic D 15099532 15099540 1 12 270.394 - - 7 1 1 CALCB|CCDS7820.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 CALCB|CCDS7820.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 10 27 10 0 0 ./. 2 3 3 6 19 32 19 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835387 11 15515947 CA C 300 PASS - - - - - Del - D 15515947 15515956 1 12 270.394 - - 8 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 3 2 3 2 20 27 20 27 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835446 11 15742499 TC T 360 PASS - - - - - Del - D 15742499 15742504 1 16 319.656 - - 4 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 3 3 5 14 28 14 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835487 11 15901644 CAA C 420 PASS - - - - - Del - D 15901644 15901649 2 18 378.551 - - 4 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 5 3 6 21 26 21 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835506 11 15976845 CT C 300 PASS - - - - - Del - D 15976845 15976854 1 6 270.394 - - 8 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 0 5 2 7 29 25 29 25 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835633 11 16576303 AAGG A 480 PASS - - - - - Del - D 16576303 16576310 3 24 432.63 - - 2 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 3 5 3 16 7 16 7 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759835947 11 17461172 G GA 420 PASS ABCC8 CCDS31437.1 r.? - - Ins intronic I 17461172 17461182 1 18 374.337 - - 9 1 1 ABCC8|CCDS31437.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCC8|CCDS31437.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 5 2 5 2 25 25 25 25 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759836221 11 18448934 CA C 360 PASS LDHC CCDS7840.1 r.? - - Del intronic D 18448934 18448942 1 16 321.462 - - 7 1 1 LDHC|CCDS7840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LDHC|CCDS7840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 3 3 3 26 21 26 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759836284 11 18569393 C CT 480 PASS UEVLD CCDS41624.1 r.? - - Ins intronic I 18569393 18569399 1 16 427.814 - - 5 1 1 UEVLD|CCDS41624.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UEVLD|CCDS41624.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 4 16 4 0 0 ./. 7 1 8 1 30 1 32 1 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759836303 11 18606346 AT A 360 PASS UEVLD CCDS41624.1 r.? - - Del intronic D 18606346 18606352 1 12 324.472 - - 5 1 1 UEVLD|CCDS41624.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UEVLD|CCDS41624.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 5 1 5 2 21 16 21 16 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759836464 11 19024923 TG T 600 PASS - - - - - Del - D 19024923 19024929 1 36 535.971 - - 5 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 5 7 5 32 20 32 20 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759836479 11 19069571 C CA 480 PASS - - - - - Ins - I 19069571 19069578 1 21 427.814 - - 6 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 2 6 3 29 12 29 12 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759836640 11 19597134 AC A 420 PASS - - - - - Del - D 19597134 19597141 1 20 373.735 - - 6 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 3 5 3 33 31 33 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759836684 11 19799775 GT G 300 PASS NAV2 CCDS7851.2 r.? - - Del intronic D 19799775 19799783 1 10 270.394 - - 7 1 1 NAV2|CCDS7851.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAV2|CCDS7851.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 1 4 1 4 18 29 18 29 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759836740 11 19987130 C CA 480 PASS NAV2 CCDS7851.2 r.? - - Ins intronic I 19987130 19987133 1 24 427.814 - - 2 1 1 NAV2|CCDS7851.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NAV2|CCDS7851.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 3 8 5 38 39 39 40 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759836775 11 20082005 A AT 300 PASS NAV2 CCDS7851.2 r.? - - Ins intronic I 20082005 20082012 1 12 267.383 - - 6 1 1 NAV2|CCDS7851.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NAV2|CCDS7851.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 2 4 3 32 27 32 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759836882 11 20406425 T TA 420 PASS PRMT3 CCDS7853.1 r.? - - Ins upstream I 20406425 20406428 1 20 374.337 - - 2 1 1 PRMT3|CCDS7853.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 PRMT3|CCDS7853.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 4 3 5 22 28 23 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759836937 11 20536935 CT C 480 PASS - - - - - Del - D 20536935 20536941 1 21 430.222 - - 5 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 6 2 8 3 30 24 30 24 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759837249 11 21478546 A AC 300 PASS NELL1 CCDS7855.1 r.? - - Ins intronic I 21478546 21478548 1 12 267.383 - - 1 1 1 NELL1|CCDS7855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NELL1|CCDS7855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 16 6 16 0 0 ./. 3 2 3 2 24 19 27 19 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759837283 11 21569572 TA T 269 PASS NELL1 CCDS7855.1 r.? - - Del intronic D 21569572 21569582 1 10 269.19 - - 9 1 1 NELL1|CCDS7855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NELL1|CCDS7855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 2 7 9 24 9 24 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759837413 11 21884922 GT G 360 PASS - - - - - Del - D 21884922 21884932 1 16 324.472 - - 9 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 3 4 5 17 28 17 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759837419 11 21900771 CA C 336 PASS - - - - - Del - D 21900771 21900780 1 24 486.709 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 7 3 7 31 28 31 28 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759837449 11 21973498 AC A 540 PASS - - - - - Del - D 21973498 21973500 1 30 477.076 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 4 6 4 37 19 37 19 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759837611 11 22500950 CA C 300 PASS - - - - - Del - D 22500950 22500956 1 12 270.394 - - 5 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 2 4 7 17 22 17 22 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759837612 11 22505204 CT C 360 PASS - - - - - Del - D 22505204 22505210 1 12 324.472 - - 5 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 1 7 2 25 21 25 21 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759837662 11 22652374 G GT 600 PASS FANCF CCDS7857.1 r.? - - Ins upstream I 22652374 22652382 1 32 534.767 - - 7 1 1 FANCF|CCDS7857.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 FANCF|CCDS7857.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 7 4 7 38 34 38 35 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759837857 11 23224104 TG T 360 PASS - - - - - Del - D 23224104 23224112 1 16 324.472 - - 7 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 3 3 4 6 21 26 21 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759838156 11 24100005 CA C 300 PASS - - - - - Del - D 24100005 24100014 1 10 270.394 - - 8 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 1 4 3 4 27 22 27 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759838187 11 24184794 G GA 360 PASS ENSG00000228428 ENST00000431349 r.? - - Ins intronic I 24184794 24184801 1 7 320.86 - - 6 1 1 ENSG00000228428|ENST00000431349|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000228428|ENST00000431349|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 0 8 0 11 7 11 7 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759838419 11 24888186 C CA 480 PASS LUZP2 CCDS31446.1 r.? - - Ins intronic I 24888186 24888195 1 25 427.814 - - 8 1 1 LUZP2|CCDS31446.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LUZP2|CCDS31446.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 18 16 0 0 ./. 4 4 6 4 33 30 33 30 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759838480 11 25044828 CT C 414 PASS LUZP2 CCDS31446.1 r.? - - Del intronic D 25044828 25044838 1 18 378.551 - - 9 1 1 LUZP2|CCDS31446.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LUZP2|CCDS31446.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 5 2 7 22 29 22 29 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759838539 11 25209698 GT G 300 PASS - - - - - Del - D 25209698 25209708 1 10 269.19 - - 9 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 4 1 4 9 26 9 26 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759838739 11 25754417 GA G 360 PASS - - - - - Del - D 25754417 25754425 1 16 324.472 - - 7 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 3 3 3 3 17 33 17 33 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759838900 11 26067274 CT C 300 PASS - - - - - Del - D 26067274 26067282 1 10 270.394 - - 7 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 1 6 2 12 14 12 14 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759838917 11 26095635 CTA C 420 PASS - - - - - Del - D 26095635 26095639 2 20 378.551 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 4 4 5 29 28 29 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759838938 11 26196478 TA T 396 PASS - - - - - Del - D 26196478 26196487 1 20 378.551 - - 8 1 1 - - ./. 0 0 0 0 25 11 25 11 0 0 ./. 4 3 4 3 14 20 14 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759839006 11 26456931 TTA T 300 PASS ANO3 CCDS31447.1 r.? - - Del intronic D 26456931 26456935 2 6 270.394 - - 1 1 1 ANO3|CCDS31447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO3|CCDS31447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 5 0 5 1 22 18 22 18 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759839098 11 26662966 AT A 420 PASS ANO3 CCDS31447.1 r.? - - Del intronic D 26662966 26662974 1 8 378.551 - - 7 1 1 ANO3|CCDS31447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO3|CCDS31447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 26 9 26 0 0 ./. 0 7 0 7 5 26 5 26 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759839205 11 26913216 TA T 360 PASS - - - - - Del - D 26913216 26913224 1 16 324.472 - - 7 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 3 3 4 24 24 24 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759839261 11 27090570 CT C 480 PASS BBOX1 CCDS7862.1 r.? - - Del intronic D 27090570 27090580 1 21 432.63 - - 9 1 1 BBOX1|CCDS7862.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BBOX1|CCDS7862.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 6 2 7 3 28 15 28 15 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759839452 11 27577946 AT A 660 PASS BDNFOS ENST00000501663 r.? - - Del intronic D 27577946 27577952 1 40 594.866 - - 5 1 1 BDNFOS|ENST00000501663|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 BDNFOS|ENST00000501663|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 7 4 8 4 29 29 29 29 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759839591 11 28151699 C CA 360 PASS METT5D1 CCDS31450.1 r.? - - Ins intronic I 28151699 28151708 1 16 318.452 - - 8 1 1 METT5D1|CCDS31450.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 METT5D1|CCDS31450.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 3 5 27 17 27 17 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759839705 11 28530364 CA C 300 PASS - - - - - Del - D 28530364 28530374 1 10 270.394 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 1 4 1 26 24 26 24 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759839708 11 28534808 AT A 540 PASS - - - - - Del - D 28534808 28534815 1 28 486.709 - - 6 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 3 7 3 24 16 24 16 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759839887 11 29167595 AT A 300 PASS - - - - - Del - D 29167595 29167604 1 10 269.792 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 1 6 2 26 18 26 18 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759839903 11 29241389 GT G 420 PASS - - - - - Del - D 29241389 29241399 1 18 378.551 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 5 2 5 29 31 29 31 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759840113 11 30032939 AC A 600 PASS KCNA4 CCDS41629.1 r.2438delG c.1286delG p.G429fs*53 Del frameshift D 30032939 30032946 1 35 538.981 - - 6 1 1 KCNA4|CCDS41629.1|r.2438delG|c.1286delG|p.G429fs*53|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 KCNA4|CCDS41629.1|r.2438delG|c.1286delG|p.G429fs*53|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 5 12 5 12 0 0 ./. 6 4 9 5 32 26 32 26 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759840134 11 30104134 GA G 300 PASS - - - - - Del - D 30104134 30104142 1 10 270.394 - - 7 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 1 4 1 5 17 23 17 23 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759840367 11 30934966 C CA 300 PASS DCDC5 ENST00000406071 r.? - - Ins intronic I 30934966 30934975 1 10 264.975 - - 8 1 1 DCDC5|ENST00000406071|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DCDC5|ENST00000406071|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 12 8 0 0 ./. 1 4 4 6 33 25 33 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759840368 11 30936386 CT C 360 PASS DCDC5 ENST00000406071 r.? - - Del intronic D 30936386 30936396 1 16 324.472 - - 9 1 1 DCDC5|ENST00000406071|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCDC5|ENST00000406071|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 3 3 5 25 24 25 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759840415 11 31144622 CA C 360 PASS ENSG00000226746 ENST00000399333 r.? - - Del intronic D 31144622 31144632 1 7 323.87 - - 9 1 1 ENSG00000226746|ENST00000399333|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000226746|ENST00000399333|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 0 6 0 7 13 37 13 37 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759840491 11 31504804 C CA 300 PASS IMMP1L CCDS7874.1 r.? - - Ins intronic I 31504804 31504812 1 10 267.383 - - 7 1 1 IMMP1L|CCDS7874.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 IMMP1L|CCDS7874.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 1 6 1 25 6 25 6 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759840555 11 31793979 CT C 420 PASS ELP4 CCDS7875.2 r.? - - Del intronic D 31793979 31793988 1 20 378.551 - - 8 1 1 ELP4|CCDS7875.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELP4|CCDS7875.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 3 7 5 30 33 30 33 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759840599 11 31923472 GAA G 480 PASS - - - - - Del - D 31923472 31923476 2 16 429.62 - - 3 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 1 7 1 9 30 29 30 29 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759840681 11 32239214 C CA 329 PASS - - - - - Ins - I 32239214 32239223 1 16 319.054 - - 8 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 3 3 3 22 23 22 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759840860 11 32749118 AT A 360 PASS CCDC73 CCDS41630.1 r.? - - Del intronic D 32749118 32749128 1 15 323.87 - - 9 1 1 CCDC73|CCDS41630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC73|CCDS41630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 2 4 2 26 15 26 15 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759840886 11 32872453 TA T 420 PASS PRRG4 CCDS7881.1 r.? - - Del intronic D 32872453 32872462 1 14 377.949 - - 8 1 1 PRRG4|CCDS7881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRRG4|CCDS7881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 6 1 7 9 33 9 33 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759841008 11 33125029 GA G 480 PASS CSTF3 CCDS7883.1 r.? - - Del intronic D 33125029 33125039 1 16 427.813 - - 9 1 1 CSTF3|CCDS7883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSTF3|CCDS7883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 7 1 7 1 21 3 21 3 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759841042 11 33202438 C CA 420 PASS AC131263.1 ENST00000500025 r.? - - Ins intronic I 33202438 33202441 1 8 374.337 - - 2 1 1 AC131263.1|ENST00000500025|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC131263.1|ENST00000500025|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 0 7 2 12 23 29 23 29 2 12 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759841055 11 33241972 CT C 660 PASS - - - - - Del - D 33241972 33241982 1 40 594.866 - - 9 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 4 7 7 8 33 30 33 30 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759841166 11 33592136 CA C 420 PASS C11orf41 CCDS44565.1 r.? - - Del intronic D 33592136 33592143 1 18 378.551 - - 6 1 1 C11orf41|CCDS44565.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C11orf41|CCDS44565.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 2 5 3 7 29 26 29 26 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759841351 11 34143729 GA G 298 PASS NAT10 CCDS7889.1 r.? - - Del intronic D 34143729 34143739 1 15 321.462 - - 9 1 1 NAT10|CCDS7889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAT10|CCDS7889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 4 4 5 22 23 22 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759841377 11 34277377 AT A 420 PASS ABTB2 CCDS7890.1 r.? - - Del intronic D 34277377 34277386 1 14 378.551 - - 8 1 1 ABTB2|CCDS7890.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABTB2|CCDS7890.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 1 7 3 26 25 26 25 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759841513 11 34610746 AT A 480 PASS - - - - - Del - D 34610746 34610754 1 24 432.63 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 5 3 5 14 34 14 34 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759841792 11 35380190 AT A 300 PASS SLC1A2 CCDS31459.1 r.? - - Del intronic D 35380190 35380198 1 12 270.394 - - 7 1 1 SLC1A2|CCDS31459.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC1A2|CCDS31459.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 19 9 19 0 0 ./. 3 2 4 2 18 11 18 11 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759841844 11 35571122 GA G 300 PASS - - - - - Del - D 35571122 35571130 1 12 266.179 - - 7 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 2 4 2 27 22 27 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759841850 11 35627452 TC T 300 PASS - - - - - Del - D 35627452 35627460 1 12 270.394 - - 7 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 3 5 30 29 30 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759842029 11 36197925 C CT 600 PASS LDLRAD3 CCDS31462.1 r.? - - Ins intronic I 36197925 36197933 1 35 534.767 - - 7 1 1 LDLRAD3|CCDS31462.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LDLRAD3|CCDS31462.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 6 4 6 31 25 31 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759842038 11 36220458 GT G 360 PASS LDLRAD3 CCDS31462.1 r.? - - Del intronic D 36220458 36220468 1 12 324.472 - - 9 1 1 LDLRAD3|CCDS31462.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LDLRAD3|CCDS31462.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 1 5 2 6 24 25 24 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759842133 11 36525637 A AT 420 PASS TRAF6 CCDS7901.1 r.? - - Ins intronic I 36525637 36525644 1 20 374.337 - - 6 1 1 TRAF6|CCDS7901.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TRAF6|CCDS7901.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 4 3 4 47 22 47 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759842151 11 36647274 AG A 300 PASS C11orf74 CCDS7904.1 r.? - - Del intronic D 36647274 36647280 1 6 266.179 - - 5 1 1 C11orf74|CCDS7904.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C11orf74|CCDS7904.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 5 0 5 1 22 11 22 11 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759842405 11 37699502 TA T 540 PASS - - - - - Del - D 37699502 37699510 1 30 486.709 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 5 5 6 19 25 19 25 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759842440 11 37848470 AT A 600 PASS - - - - - Del - D 37848470 37848479 1 27 535.369 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 8 2 8 7 32 7 32 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759842442 11 37856799 CA C 300 PASS - - - - - Del - D 37856799 37856809 1 12 270.394 - - 9 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 2 3 2 20 16 20 16 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759842523 11 38130154 GCA G 300 PASS - - - - - Del - D 38130154 38130169 2 12 270.394 - - 7 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 3 2 25 19 25 19 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843129 11 39965185 G GT 360 PASS - - - - - Ins - I 39965185 39965195 1 12 317.85 - - 9 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 5 1 6 1 34 13 34 13 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843136 11 40001751 GT G 360 PASS - - - - - Del - D 40001751 40001761 1 7 316.646 - - 9 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 6 0 7 0 29 0 29 0 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843139 11 40007902 CA C 300 PASS - - - - - Del - D 40007902 40007910 1 12 270.394 - - 7 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 2 6 21 26 21 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843157 11 40061768 A AT 420 PASS - - - - - Ins - I 40061768 40061775 1 20 374.337 - - 6 1 1 - - ./. 0 0 0 0 12 8 12 9 0 0 ./. 3 4 3 5 25 21 26 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843209 11 40284880 TC T 300 PASS LRRC4C CCDS31464.1 r.? - - Del intronic D 40284880 40284882 1 12 270.394 - - 1 1 1 LRRC4C|CCDS31464.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LRRC4C|CCDS31464.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 2 4 2 15 14 15 14 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843289 11 40554249 TG T 300 PASS - - - - - Del - D 40554249 40554255 1 10 270.394 - - 5 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 1 4 1 19 5 19 5 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843408 11 41002119 CA C 420 PASS - - - - - Del - D 41002119 41002129 1 20 378.551 - - 9 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 3 8 4 25 23 25 23 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843419 11 41027210 GCT G 300 PASS - - - - - Del - D 41027210 41027224 2 12 270.394 - - 6 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 3 3 15 24 15 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843583 11 41545744 TA T 360 PASS - - - - - Del - D 41545744 41545753 1 15 324.472 - - 8 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 2 4 2 19 12 19 12 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843666 11 41736233 GA G 300 PASS - - - - - Del - D 41736233 41736242 1 12 270.394 - - 8 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 2 3 3 3 23 21 23 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843722 11 41926876 AT A 360 PASS - - - - - Del - D 41926876 41926886 1 15 324.472 - - 9 1 1 - - ./. 0 0 0 0 5 22 5 22 0 0 ./. 4 2 4 3 25 33 25 33 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843774 11 42162423 CT C 420 PASS - - - - - Del - D 42162423 42162433 1 20 378.551 - - 9 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 4 3 6 3 28 25 28 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843829 11 42396352 CT C 269 PASS - - - - - Del - D 42396352 42396360 1 6 270.394 - - 7 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 0 5 2 30 16 30 16 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843841 11 42429645 GT G 300 PASS - - - - - Del - D 42429645 42429654 1 12 269.792 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 4 3 16 26 16 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843884 11 42547807 AT A 300 PASS - - - - - Del - D 42547807 42547815 1 12 270.394 - - 7 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 3 2 3 2 31 25 31 25 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759843892 11 42580662 C CT 300 PASS - - - - - Ins - I 42580662 42580668 1 10 267.383 - - 5 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 1 4 1 5 30 25 30 25 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759844000 11 42939435 CA C 420 PASS - - - - - Del - D 42939435 42939444 1 20 378.551 - - 8 1 1 - - ./. 0 0 0 0 16 6 16 6 0 0 ./. 3 4 4 5 28 30 28 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759844301 11 43793945 GT G 300 PASS HSD17B12 CCDS7905.1 r.? - - Del intronic D 43793945 43793954 1 12 270.394 - - 8 1 1 HSD17B12|CCDS7905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HSD17B12|CCDS7905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 2 3 4 3 25 26 25 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759844334 11 43874301 AT A 357 PASS HSD17B12 CCDS7905.1 r.? - - Del intronic D 43874301 43874311 1 15 324.472 - - 9 1 1 HSD17B12|CCDS7905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HSD17B12|CCDS7905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 17 3 17 0 0 ./. 4 2 6 3 27 29 27 29 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759844402 11 44034833 CT C 300 PASS - - - - - Del - D 44034833 44034842 1 10 270.394 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 4 1 27 28 27 28 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759844429 11 44113803 CT C 300 PASS EXT2 CCDS7908.1 r.? - - Del upstream D 44113803 44113812 1 10 270.394 - - 8 1 1 EXT2|CCDS7908.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 EXT2|CCDS7908.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 4 3 5 11 38 11 38 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759844464 11 44260463 A AT 480 PASS EXT2 CCDS7908.1 r.? - - Ins intronic I 44260463 44260473 1 21 427.814 - - 9 1 1 EXT2|CCDS7908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EXT2|CCDS7908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 11 0 0 ./. 6 2 12 3 36 28 36 28 12 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759844715 11 45097520 TG T 300 PASS - - - - - Del - D 45097520 45097528 1 12 270.394 - - 7 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 4 3 27 23 27 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759844717 11 45115282 TG T 300 PASS PRDM11 CCDS7912.1 r.? - - Del upstream D 45115282 45115289 1 10 269.792 - - 6 1 1 PRDM11|CCDS7912.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PRDM11|CCDS7912.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 6 8 6 8 0 0 ./. 1 4 1 4 18 30 18 30 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759844751 11 45262328 CT C 480 PASS SYT13 CCDS31470.1 r.4681delA c.? p.? Del 3'UTR variant D 45262328 45262334 1 25 432.63 - - 5 1 1 SYT13|CCDS31470.1|r.4681delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SYT13|CCDS31470.1|r.4681delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 4 5 5 26 19 26 19 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759844969 11 46062656 CT C 660 PASS PHF21A CCDS44578.1 r.? - - Del intronic D 46062656 46062664 1 40 594.866 - - 7 1 1 PHF21A|CCDS44578.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHF21A|CCDS44578.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 7 5 8 23 29 23 29 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845043 11 46287981 GT G 420 PASS - - - - - Del - D 46287981 46287991 1 20 377.949 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 4 3 4 24 24 24 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845079 11 46366897 GC G 540 PASS DGKZ CCDS44580.1 r.? - - Del upstream D 46366897 46366906 1 30 484.903 - - 8 1 1 DGKZ|CCDS44580.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 DGKZ|CCDS7918.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 5 4 5 24 28 24 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845274 11 46858877 T TC 480 PASS CKAP5 CCDS31477.1 r.? - - Ins intronic I 46858877 46858885 1 24 427.211 - - 7 1 1 CKAP5|CCDS31477.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CKAP5|CCDS31477.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 10 0 0 ./. 3 5 3 5 15 21 15 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845481 11 47376433 G GT 420 PASS SPI1 CCDS44591.1 r.1383_1384insa c.? p.? Ins 3'UTR variant I 47376433 47376440 1 20 373.133 - - 6 1 1 SPI1|CCDS44591.1|r.1383_1384insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 SPI1|CCDS44591.1|r.1383_1384insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 4 5 6 26 34 27 34 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845529 11 47437474 GAC G 269 PASS SLC39A13 CCDS44592.1 r.1848_1849delAC c.? p.? Del 3'UTR variant D 47437474 47437478 2 12 260.761 - - 1 1 1 SLC39A13|CCDS44592.1|r.1848_1849delAC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SLC39A13|CCDS44592.1|r.1848_1849delAC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 19 9 19 9 0 0 ./. 3 2 6 2 28 31 28 31 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845587 11 47543319 CTA C 420 PASS CELF1 CCDS7938.1 r.? - - Del intronic D 47543319 47543323 2 18 378.551 - - 1 1 1 CELF1|CCDS7938.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CELF1|CCDS7938.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 18 4 18 0 0 ./. 2 5 3 6 28 27 28 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845593 11 47550270 CA C 360 PASS CELF1 CCDS7938.1 r.? - - Del intronic D 47550270 47550278 1 7 324.472 - - 7 1 1 CELF1|CCDS7938.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CELF1|CCDS7938.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 0 6 3 8 24 24 24 24 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845647 11 47652982 CA C 360 PASS MTCH2 CCDS7943.1 r.? - - Del intronic D 47652982 47652992 1 15 322.666 - - 9 1 1 MTCH2|CCDS7943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTCH2|CCDS7943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 2 4 2 32 37 32 37 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845651 11 47667526 AG A 360 PASS MTCH2 CCDS7943.1 r.? - - Del upstream D 47667526 47667532 1 16 324.472 - - 5 1 1 MTCH2|CCDS7943.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 MTCH2|CCDS7943.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 3 7 5 36 37 36 37 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845723 11 47780418 CG C 360 PASS FNBP4 CCDS41644.1 r.? - - Del intronic D 47780418 47780426 1 12 324.472 - - 7 1 1 FNBP4|CCDS41644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FNBP4|CCDS41644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 1 5 2 10 19 26 19 26 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845829 11 47944492 C CA 360 PASS - - - - - Ins - I 47944492 47944495 1 12 319.656 - - 2 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 5 1 6 9 21 9 21 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759845850 11 47984412 G GT 300 PASS - - - - - Ins - I 47984412 47984420 1 10 267.383 - - 7 1 - - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 1 5 2 37 27 37 28 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846091 11 48463480 A AT 300 PASS - - - - - Ins - I 48463480 48463487 1 10 267.383 - - 6 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 4 1 5 1 28 11 29 11 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846099 11 48489039 G GAAC 360 PASS - - - - - Ins - I 48489039 48489057 3 12 311.829 - - 5 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 1 5 2 5 32 24 32 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846114 11 48654722 T TC 360 PASS - - - - - Ins - I 48654722 48654731 1 16 314.237 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 3 6 4 21 29 21 29 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846133 11 48738866 CG C 420 PASS - - - - - Del - D 48738866 48738868 1 18 378.551 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 2 6 6 31 32 31 32 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846184 11 48866519 TA T 300 PASS - - - - - Del - D 48866519 48866525 1 12 270.394 - - 5 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 3 2 7 2 30 25 30 25 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846282 11 49281713 CTCCT C 300 PASS - - - - - Del - D 49281713 49281723 4 6 270.394 - - 2 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 0 5 0 7 7 29 7 29 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846425 11 49811545 TC T 360 PASS ENSG00000205035 ENST00000357667 r.? - - Del intronic D 49811545 49811550 1 15 324.472 - - 4 1 1 ENSG00000205035|ENST00000357667|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000205035|ENST00000357667|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 2 5 3 33 16 33 16 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846644 11 50432212 CT C 540 PASS - - - - - Del - D 50432212 50432220 1 30 486.709 - - 7 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 4 6 4 23 21 23 21 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846770 11 51285217 A AT 360 PASS - - - - - Ins - I 51285217 51285225 1 7 320.86 - - 7 1 1 - - ./. 0 0 0 0 19 9 20 9 0 0 ./. 0 6 8 7 34 30 35 30 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846773 11 51301854 CA C 389 PASS - - - - - Del - D 51301854 51301863 1 20 378.551 - - 8 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 4 3 4 28 28 28 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846927 11 54831219 CA C 629 PASS - - - - - Del - D 54831219 54831223 1 42 594.866 - - 3 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 5 6 5 8 23 28 23 28 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759846969 11 55029180 T TA 263 PASS TRIM48 CCDS7947.2 r.? - - Ins upstream I 55029180 55029188 1 12 267.383 - - 7 1 1 TRIM48|CCDS7947.2|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 TRIM48|CCDS7947.2|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 9 5 9 5 0 0 ./. 3 2 4 2 24 30 25 30 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759847043 11 55352012 CT C 420 PASS - - - - - Del - D 55352012 55352018 1 20 378.551 - - 5 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 4 3 6 21 29 21 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759847338 11 56584507 GT G 300 PASS - - - - - Del - D 56584507 56584516 1 12 269.19 - - 8 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 2 5 2 28 25 28 25 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759847387 11 56826111 G GA 300 PASS - - - - - Ins - I 56826111 56826120 1 10 266.179 - - 8 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 1 4 1 15 17 15 17 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759847428 11 57062162 CCCT C 329 PASS TNKS1BP1 CCDS7951.1 r.? - - Del downstream D 57062162 57062170 3 15 323.87 - - 2 1 1 TNKS1BP1|CCDS7951.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TNKS1BP1|CCDS7951.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 4 3 4 21 26 21 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759847630 11 57555689 CT C 540 PASS CTNND1 CCDS44604.1 r.? - - Del intronic D 57555689 57555699 1 24 478.28 - - 9 1 1 CTNND1|CCDS44604.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CTNND1|CCDS44604.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 7 2 9 4 25 29 25 29 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759847650 11 57619955 GA G 299 PASS - - - - - Del - D 57619955 57619961 1 15 324.472 - - 5 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 4 2 5 4 34 28 34 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759847753 11 57943481 GA G 300 PASS OR9Q1 CCDS31543.1 r.? - - Del intronic D 57943481 57943491 1 10 270.394 - - 9 1 1 OR9Q1|CCDS31543.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 OR9Q1|CCDS31543.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 1 4 1 34 19 34 19 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759847839 11 58353813 C CT 420 PASS ZFP91 CCDS31553.1 r.? - - Ins intronic I 58353813 58353822 1 20 374.337 - - 8 1 1 ZFP91|CCDS31553.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFP91|CCDS31553.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 4 4 8 27 31 27 32 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759847846 11 58370452 CA C 360 PASS ZFP91 CCDS31553.1 r.? - - Del intronic D 58370452 58370462 1 15 324.472 - - 9 1 1 ZFP91|CCDS31553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFP91|CCDS31553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 2 4 2 28 22 28 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759847873 11 58431925 TG T 420 PASS - - - - - Del - D 58431925 58431934 1 18 378.551 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 2 7 4 30 28 30 28 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759847943 11 58683997 GT G 420 PASS - - - - - Del - D 58683997 58683999 1 20 378.551 - - 1 1 1 - - ./. 0 0 0 0 17 5 17 5 0 0 ./. 3 4 4 6 23 29 23 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848059 11 59029989 ACTCT A 300 PASS ENSG00000225802 ENST00000455673 r.? - - Del downstream D 59029989 59029998 4 12 270.394 - - 4 1 1 ENSG00000225802|ENST00000455673|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000225802|ENST00000455673|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 4 8 4 8 0 0 ./. 3 2 3 3 28 22 28 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848064 11 59045433 GA G 360 PASS ENSG00000214797 ENST00000399003 r.? - - Del intronic D 59045433 59045442 1 15 324.472 - - 8 1 1 ENSG00000214797|ENST00000399003|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000214797|ENST00000399003|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 2 5 6 16 16 16 16 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848093 11 59205506 GCT G 420 PASS - - - - - Del - D 59205506 59205519 2 20 374.939 - - 6 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 3 5 3 26 13 26 13 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848192 11 59576627 AT A 300 PASS MRPL16 CCDS7976.1 r.? - - Del intronic D 59576627 59576636 1 12 270.394 - - 8 1 1 MRPL16|CCDS7976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRPL16|CCDS7976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 6 3 29 27 29 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848202 11 59619958 GT G 360 PASS TCN1 CCDS7978.1 r.? - - Del downstream D 59619958 59619967 1 15 323.268 - - 8 1 1 TCN1|CCDS7978.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 TCN1|CCDS7978.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 4 3 4 17 28 17 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848305 11 59927028 AT A 329 PASS - - - - - Del - D 59927028 59927038 1 7 323.87 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 0 6 2 6 8 21 8 21 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848340 11 60023693 TA T 300 PASS - - - - - Del - D 60023693 60023703 1 12 270.394 - - 9 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 2 3 4 3 25 22 25 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848534 11 60752513 CT C 360 PASS CD6 CCDS7999.1 r.? - - Del intronic D 60752513 60752521 1 16 324.472 - - 7 1 1 CD6|CCDS7999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD6|CCDS7999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 3 5 24 25 24 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848592 11 60924056 CA C 360 PASS VPS37C CCDS31573.1 r.? - - Del intronic D 60924056 60924066 1 12 324.472 - - 9 1 1 VPS37C|CCDS31573.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 VPS37C|CCDS31573.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 1 7 2 28 22 28 22 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848607 11 60952847 CT C 360 PASS - - - - - Del - D 60952847 60952857 1 16 320.86 - - 9 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 3 4 3 20 20 20 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848660 11 61148761 AC A 300 PASS - - - - - Del - D 61148761 61148767 1 10 270.394 - - 5 1 1 - - ./. 0 0 0 0 23 4 23 4 0 0 ./. 4 1 5 2 25 15 25 15 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848699 11 61213284 TAGA T 660 PASS SDHAF2 CCDS8007.1 r.? - - Del intronic D 61213284 61213293 3 42 593.662 - - 2 1 1 SDHAF2|CCDS8007.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDHAF2|CCDS8007.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 6 5 9 7 30 25 30 25 9 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848931 11 61887572 GT G 300 PASS INCENP CCDS44624.1 r.? - - Del upstream D 61887572 61887581 1 10 270.394 - - 8 1 1 INCENP|CCDS44624.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 INCENP|CCDS44624.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 1 4 1 21 20 21 20 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759848988 11 62017056 CT C 300 PASS SCGB1D2 CCDS8017.1 r.? - - Del downstream D 62017056 62017066 1 12 269.792 - - 9 1 1 SCGB1D2|CCDS8017.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SCGB1D2|CCDS8017.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 5 2 23 19 23 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759849090 11 62244111 CA C 420 PASS AHNAK CCDS44625.1 r.? - - Del intronic D 62244111 62244121 1 18 378.551 - - 9 1 1 AHNAK|CCDS44625.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AHNAK|CCDS44625.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 2 5 2 29 25 29 25 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759849287 11 62663201 AT A 389 PASS - - - - - Del - D 62663201 62663210 1 20 378.551 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 3 5 4 31 38 31 38 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759849411 11 63240229 AT A 300 PASS HRASLS5 CCDS8044.1 r.? - - Del intronic D 63240229 63240235 1 12 270.394 - - 5 1 1 HRASLS5|CCDS8044.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HRASLS5|CCDS8044.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 6 2 22 9 22 9 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759849558 11 63618026 AT A 397 PASS MARK2 ENST00000508192 r.? - - Del intronic D 63618026 63618033 1 18 378.551 - - 6 1 1 MARK2|ENST00000508192|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MARK2|ENST00000508192|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 2 6 2 36 8 36 8 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759849735 11 64129350 TC T 329 PASS RPS6KA4 CCDS8073.1 r.848delC c.783delC p.P263fs*112 Del frameshift D 64129350 64129357 1 16 321.462 - - 6 1 1 RPS6KA4|CCDS8073.1|r.848delC|c.783delC|p.P263fs*112|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 RPS6KA4|CCDS8073.1|r.848delC|c.783delC|p.P263fs*112|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 3 8 3 8 0 0 ./. 3 3 4 4 18 26 18 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759849921 11 64658054 TG T 300 PASS ATG2A CCDS31602.1 r.? - - Del downstream D 64658054 64658062 1 12 270.394 - - 7 1 1 ATG2A|CCDS31602.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 EHD1|ENST00000457202|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 5 3 36 27 36 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759849984 11 64837946 AT A 300 PASS ENSG00000227162 ENST00000438878 r.? - - Del upstream D 64837946 64837956 1 12 269.19 - - 9 1 1 ENSG00000227162|ENST00000438878|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000227162|ENST00000438878|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 2 3 2 23 28 23 28 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759849993 11 64862268 CA C 660 PASS C11orf2 CCDS8093.1 r.? - - Del upstream D 64862268 64862278 1 42 594.866 - - 9 1 1 C11orf2|CCDS8093.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C11orf2|CCDS8093.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 4 13 4 13 0 0 ./. 6 5 9 6 24 29 24 29 9 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850022 11 64981480 TC T 360 PASS CAPN1 CCDS44644.1 r.? - - Del downstream D 64981480 64981489 1 15 324.472 - - 8 1 1 CAPN1|CCDS44644.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SLC22A20|ENST00000454680|r.173delC|c.132delC|p.H47fs*21|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 2 4 2 22 20 22 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850051 11 65070992 CA C 353 PASS - - - - - Del - D 65070992 65071002 1 16 324.472 - - 9 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 3 3 3 3 21 26 21 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850084 11 65132222 CT C 286 PASS - - - - - Del - D 65132222 65132232 1 16 323.268 - - 9 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 3 4 3 28 27 28 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850120 11 65247408 TG T 300 PASS - - - - - Del - D 65247408 65247415 1 10 270.394 - - 6 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 1 5 1 23 18 23 18 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850134 11 65284933 C CA 360 PASS - - - - - Ins - I 65284933 65284936 1 15 319.656 - - 2 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 4 2 4 3 17 3 17 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850337 11 65795300 AC A 389 PASS CATSPER1 CCDS8127.1 r.? - - Del upstream D 65795300 65795307 1 18 378.551 - - 6 1 1 CATSPER1|CCDS8127.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CATSPER1|CCDS8127.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 17 10 17 10 0 0 ./. 5 2 5 2 34 21 34 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850411 11 65993642 CA C 360 PASS PACS1 CCDS8129.1 r.? - - Del intronic D 65993642 65993650 1 16 324.472 - - 7 1 1 PACS1|CCDS8129.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PACS1|CCDS8129.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 3 4 4 22 29 22 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850494 11 66203149 GA G 300 PASS MRPL11 CCDS8139.1 r.992delU c.? p.? Del 3'UTR variant D 66203149 66203158 1 12 270.394 - - 8 1 1 MRPL11|CCDS8139.1|r.992delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 MRPL11|CCDS8139.1|r.992delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 2 7 16 24 16 24 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850560 11 66394755 AT A 420 PASS RBM14 CCDS8147.1 r.2766delU c.? p.? Del 3'UTR variant D 66394755 66394764 1 18 378.551 - - 8 1 1 RBM14|CCDS8147.1|r.2766delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 RBM14|CCDS8147.1|r.2766delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 2 7 3 34 25 34 25 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850584 11 66449542 G GT 300 PASS SPTBN2 CCDS8150.1 r.? - - Ins downstream I 66449542 66449549 1 10 249.924 - - 6 1 1 SPTBN2|CCDS8150.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 RBM4B|CCDS8149.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 1 5 3 28 20 28 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850684 11 66797185 TG T 300 PASS SYT12 CCDS8154.1 r.? - - Del intronic D 66797185 66797190 1 12 269.19 - - 4 1 1 SYT12|CCDS8154.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SYT12|CCDS8154.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 3 5 4 28 35 28 35 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850787 11 67090855 AAGG A 569 PASS - - - - - Del - D 67090855 67090861 3 32 539.583 - - 1 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 3 7 6 8 23 28 23 28 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850806 11 67160084 G GC 360 PASS RAD9A CCDS8159.1 r.? - - Ins intronic I 67160084 67160090 1 15 320.86 - - 5 1 1 RAD9A|CCDS8159.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAD9A|CCDS8159.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 4 3 5 28 28 28 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850822 11 67239069 A AT 420 PASS TMEM134 CCDS8167.1 r.? - - Ins upstream I 67239069 67239072 1 18 374.337 - - 2 1 1 TMEM134|CCDS8167.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TMEM134|CCDS8167.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 5 4 5 23 23 23 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759850927 11 67541959 G GT 480 PASS AP003716.5 ENST00000509880 r.? - - Ins upstream I 67541959 67541969 1 21 425.405 - - 9 1 1 AP003716.5|ENST00000509880|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 AP003716.5|ENST00000509880|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 2 7 5 31 34 31 34 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851011 11 67751568 AG A 461 PASS - - - - - Del - D 67751568 67751577 1 30 482.494 - - 8 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 4 5 7 7 15 20 15 20 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851089 11 67921984 GA G 360 PASS SUV420H1 CCDS31623.1 r.? - - Del downstream D 67921984 67921992 1 16 324.472 - - 7 1 1 SUV420H1|CCDS31623.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 SUV420H1|CCDS31623.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 3 3 3 30 28 30 28 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851090 11 67922398 T TA 540 PASS SUV420H1 CCDS31623.1 r.5768_5769insu c.? p.? Ins 3'UTR variant I 67922398 67922405 1 28 481.29 - - 6 1 1 SUV420H1|CCDS31623.1|r.5768_5769insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 SUV420H1|CCDS31623.1|r.5768_5769insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 13 11 14 11 0 0 ./. 6 3 8 5 29 30 30 30 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851110 11 67977764 TTAAC T 298 PASS SUV420H1 CCDS31623.1 r.? - - Del intronic D 67977764 67977771 4 15 318.452 - - 1 1 1 SUV420H1|CCDS31623.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SUV420H1|CCDS31623.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 4 2 6 3 21 19 21 19 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851233 11 68284335 G GT 480 PASS SAPS3 CCDS8182.1 r.? - - Ins intronic I 68284335 68284345 1 21 427.814 - - 9 1 1 SAPS3|CCDS8182.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SAPS3|CCDS8182.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 11 0 0 ./. 6 2 6 3 27 27 28 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851278 11 68399094 CA C 360 PASS - - - - - Del - D 68399094 68399104 1 12 324.472 - - 9 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 5 1 6 3 22 29 22 29 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851287 11 68411118 CA C 420 PASS - - - - - Del - D 68411118 68411127 1 18 378.551 - - 8 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 5 2 9 2 38 17 38 17 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851292 11 68418286 T TA 420 PASS - - - - - Ins - I 68418286 68418294 1 20 357.479 - - 7 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 4 5 4 25 22 25 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851328 11 68524964 GA G 420 PASS CPT1A CCDS8185.1 r.2639delU c.? p.? Del 3'UTR variant D 68524964 68524974 1 20 378.551 - - 9 1 1 CPT1A|CCDS8185.1|r.2639delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CPT1A|CCDS8185.1|r.2639delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 3 5 5 32 24 32 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851355 11 68581561 CG C 357 PASS CPT1A CCDS8185.1 r.? - - Del intronic D 68581561 68581570 1 12 322.064 - - 8 1 1 CPT1A|CCDS8185.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPT1A|CCDS8185.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 5 5 6 38 30 38 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851591 11 69240047 CA C 300 PASS - - - - - Del - D 69240047 69240057 1 12 270.394 - - 9 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 3 2 3 3 23 14 23 14 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851626 11 69409143 AC A 360 PASS - - - - - Del - D 69409143 69409149 1 7 322.666 - - 5 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 6 0 8 5 27 27 27 27 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851775 11 69812171 CA C 300 PASS - - - - - Del - D 69812171 69812181 1 12 264.975 - - 9 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 2 3 4 5 26 20 26 20 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759851906 11 70114815 A AT 300 PASS PPFIA1 CCDS31627.1 r.? - - Ins upstream I 70114815 70114822 1 12 267.383 - - 6 1 1 PPFIA1|CCDS31627.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 PPFIA1|CCDS31627.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 3 2 21 26 21 29 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759852181 11 70853567 CA C 300 PASS SHANK2 ENST00000338508 r.? - - Del intronic D 70853567 70853577 1 10 269.792 - - 9 1 - SHANK2|ENST00000338508|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHANK2|ENST00000338508|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 1 4 1 6 24 23 24 23 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759852208 11 70892867 GC G 420 PASS SHANK2 ENST00000413503 r.? - - Del intronic D 70892867 70892875 1 20 376.143 - - 7 1 1 SHANK2|ENST00000413503|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SHANK2|ENST00000413503|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 3 5 3 14 24 14 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759852337 11 71265819 TGA T 418 PASS KRTAP5-10 ENST00000422553 r.? - - Del intronic D 71265819 71265825 2 24 431.426 - - 2 1 1 KRTAP5-10|ENST00000422553|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KRTAP5-10|ENST00000422553|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 5 3 5 20 31 20 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759852509 11 71697649 TA T 360 PASS RNF121 CCDS8203.1 r.? - - Del intronic D 71697649 71697658 1 12 322.064 - - 8 1 1 RNF121|CCDS8203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF121|CCDS8203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 1 5 3 6 19 24 19 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759852619 11 72061863 CT C 420 PASS CLPB CCDS8215.1 r.? - - Del intronic D 72061863 72061870 1 20 378.551 - - 6 1 1 CLPB|CCDS8215.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLPB|CCDS8215.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 3 5 3 17 18 17 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759852653 11 72222792 CT C 360 PASS - - - - - Del - D 72222792 72222801 1 15 324.472 - - 8 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 2 4 3 4 28 38 28 38 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759852658 11 72242725 ACT A 660 PASS - - - - - Del - D 72242725 72242731 2 42 594.866 - - 2 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 6 5 6 5 23 25 23 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759852732 11 72515260 TA T 720 PASS - - - - - Del - D 72515260 72515268 1 48 644.731 - - 7 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 7 5 8 6 33 32 33 32 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759852857 11 72944098 TG T 360 PASS P2RY2 CCDS8219.1 r.? - - Del intronic D 72944098 72944106 1 16 323.268 - - 7 1 1 P2RY2|CCDS8219.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 P2RY2|CCDS8219.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 3 3 3 4 23 15 23 15 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759852998 11 73418756 CT C 420 PASS RAB6A CCDS8223.1 r.? - - Del intronic D 73418756 73418765 1 18 378.551 - - 8 1 1 RAB6A|CCDS8223.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB6A|CCDS8223.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 2 5 2 5 22 24 22 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759853380 11 74413135 CA C 480 PASS CHRDL2 CCDS8234.1 r.? - - Del intronic D 74413135 74413144 1 21 432.63 - - 8 1 1 CHRDL2|CCDS8234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHRDL2|CCDS8234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 6 5 9 34 27 34 27 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759853409 11 74513972 TG T 360 PASS RNF169 CCDS41691.1 r.? - - Del intronic D 74513972 74513982 1 15 324.472 - - 9 1 1 RNF169|CCDS41691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF169|CCDS41691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 2 4 4 5 33 26 33 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759853512 11 74892426 A AG 300 PASS SLCO2B1 CCDS8235.1 r.? - - Ins intronic I 74892426 74892427 1 10 267.383 - - 0 1 - SLCO2B1|CCDS8235.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLCO2B1|CCDS8235.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 17 20 18 0 0 ./. 1 4 2 5 26 25 27 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759853583 11 75119627 GT G 300 PASS RPS3 CCDS8236.1 r.? - - Del downstream D 75119627 75119636 1 12 270.394 - - 8 1 1 RPS3|CCDS8236.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RPS3|CCDS8236.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 10 6 10 0 0 ./. 2 3 3 3 24 30 24 30 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759853617 11 75246110 CT C 660 PASS - - - - - Del - D 75246110 75246120 1 42 592.458 - - 9 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 6 5 7 7 24 31 24 31 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759853771 11 75881791 CG C 300 PASS - - - - - Del - D 75881791 75881798 1 6 269.792 - - 6 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 0 8 2 23 22 23 22 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854024 11 76701705 T TA 300 PASS ACER3 CCDS8247.1 r.? - - Ins intronic I 76701705 76701711 1 12 267.383 - - 5 1 1 ACER3|CCDS8247.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACER3|CCDS8247.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 2 6 2 23 21 24 21 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854038 11 76739634 G GA 360 PASS ACER3 CCDS8247.1 r.? - - Ins downstream I 76739634 76739644 1 15 320.258 - - 9 1 1 ACER3|CCDS8247.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ACER3|CCDS8247.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 15 15 15 0 0 ./. 2 4 2 4 16 31 16 32 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854227 11 77277211 GTC G 360 PASS RNU7-59P ENST00000459101 r.? - - Del downstream D 77277211 77277225 2 12 322.666 - - 6 1 1 RNU7-59P|ENST00000459101|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 RNU7-59P|ENST00000459101|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 11 17 11 17 0 0 ./. 1 5 1 8 13 31 13 31 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854329 11 77468183 GA G 269 PASS RSF1 CCDS8253.1 r.? - - Del intronic D 77468183 77468191 1 12 270.394 - - 7 1 1 RSF1|CCDS8253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RSF1|CCDS8253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 3 4 32 31 32 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854375 11 77566539 CT C 420 PASS C11orf67 CCDS8254.1 r.? - - Del intronic D 77566539 77566549 1 20 378.551 - - 9 1 1 C11orf67|CCDS8254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C11orf67|CCDS8254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 19 0 0 ./. 3 4 4 5 22 20 22 20 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854378 11 77572837 CT C 300 PASS C11orf67 CCDS8254.1 r.? - - Del intronic D 77572837 77572846 1 12 270.394 - - 8 1 1 C11orf67|CCDS8254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C11orf67|CCDS8254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 3 3 24 34 24 34 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854404 11 77622089 G GA 370 PASS INTS4 CCDS31644.1 r.? - - Ins intronic I 77622089 77622096 1 20 373.735 - - 6 1 1 INTS4|CCDS31644.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 INTS4|ENST00000433818|r.1821_1822insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 3 4 3 33 21 33 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854438 11 77690520 TA T 360 PASS INTS4 CCDS31644.1 r.? - - Del intronic D 77690520 77690528 1 15 319.656 - - 7 1 1 INTS4|CCDS31644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INTS4|CCDS31644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 2 6 2 32 31 32 31 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854506 11 77821033 TC T 300 PASS ALG8 CCDS41692.1 r.? - - Del intronic D 77821033 77821040 1 10 269.19 - - 6 1 1 ALG8|CCDS41692.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALG8|CCDS41692.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 1 5 1 24 17 24 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854520 11 77843196 C CA 540 PASS ALG8 CCDS41692.1 r.? - - Ins intronic I 77843196 77843197 1 28 481.29 - - 0 1 1 ALG8|CCDS41692.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ALG8|CCDS41692.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 8 0 0 ./. 3 6 4 7 17 27 17 27 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854609 11 78108237 CA C 300 PASS GAB2 CCDS8259.1 r.? - - Del intronic D 78108237 78108246 1 10 270.394 - - 8 1 1 GAB2|CCDS8259.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAB2|CCDS8259.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 1 7 2 30 11 30 11 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854671 11 78310941 CT C 304 PASS - - - - - Del - D 78310941 78310951 1 20 378.551 - - 9 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 3 5 4 25 22 25 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854932 11 79431826 C CT 420 PASS - - - - - Ins - I 79431826 79431835 1 20 374.337 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 15 0 0 ./. 3 4 3 5 27 26 27 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759854972 11 79680337 GA G 360 PASS - - - - - Del - D 79680337 79680347 1 15 324.472 - - 9 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 4 2 5 4 25 28 25 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759855055 11 79972733 GA G 360 PASS - - - - - Del - D 79972733 79972743 1 15 324.472 - - 9 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 4 3 6 18 26 18 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759855192 11 80472216 CT C 420 PASS - - - - - Del - D 80472216 80472219 1 20 378.551 - - 2 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 3 6 4 25 14 25 14 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759855286 11 80824317 CT C 360 PASS - - - - - Del - D 80824317 80824327 1 12 324.472 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 1 5 1 29 17 29 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759855415 11 81161411 T TA 480 PASS - - - - - Ins - I 81161411 81161421 1 21 427.814 - - 9 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 6 2 6 2 28 24 28 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759855477 11 81321256 GT G 360 PASS - - - - - Del - D 81321256 81321264 1 16 324.472 - - 7 1 1 - - ./. 0 0 0 0 3 12 3 12 0 0 ./. 3 3 4 5 22 27 22 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759855675 11 82020081 GTAAT G 397 PASS AP002802.1 ENST00000500502 r.? - - Del intronic D 82020081 82020089 4 20 377.949 - - 1 1 1 AP002802.1|ENST00000500502|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AP002802.1|ENST00000500502|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 3 3 3 23 28 24 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759855833 11 82424162 TA T 300 PASS - - - - - Del - D 82424162 82424170 1 12 270.394 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 8 4 24 11 24 11 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759855964 11 82966930 TA T 540 PASS ANKRD42 CCDS8265.1 r.1570delA c.? p.? Del 3'UTR variant D 82966930 82966940 1 28 486.709 - - 9 1 1 ANKRD42|CCDS8265.1|r.1570delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ANKRD42|ENST00000260047|r.2304delA|c.2304delA|p.K771fs*9|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 6 3 8 13 30 13 30 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759856153 11 83594236 CT C 300 PASS DLG2 CCDS41696.1 r.? - - Del intronic D 83594236 83594245 1 6 270.394 - - 8 1 1 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 0 5 1 6 2 17 2 17 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759856271 11 84122446 TA T 360 PASS DLG2 CCDS41696.1 r.? - - Del intronic D 84122446 84122453 1 12 323.87 - - 6 1 1 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 1 5 2 5 21 22 21 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759856372 11 84537352 AT A 300 PASS DLG2 CCDS41696.1 r.? - - Del intronic D 84537352 84537360 1 10 270.394 - - 7 1 1 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 1 5 1 16 5 16 5 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759856415 11 84688094 CT C 300 PASS DLG2 CCDS44690.1 r.? - - Del intronic D 84688094 84688104 1 12 270.394 - - 9 1 1 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 2 3 2 6 16 26 16 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759856421 11 84713205 AT A 480 PASS DLG2 CCDS44690.1 r.? - - Del intronic D 84713205 84713215 1 24 430.222 - - 9 1 1 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 3 6 6 33 24 33 24 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759856490 11 85017624 CT C 660 PASS DLG2 CCDS44690.1 r.? - - Del intronic D 85017624 85017633 1 36 594.264 - - 8 1 1 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 8 5 8 33 30 33 30 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759856886 11 86360726 AAAT A 538 PASS ME3 CCDS8277.1 r.? - - Del intronic D 86360726 86360733 3 32 538.379 - - 2 1 1 ME3|CCDS8277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ME3|CCDS8277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 7 3 7 32 29 32 29 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759856992 11 86657482 AAAG A 329 PASS FZD4 CCDS8279.1 r.6619_6621delCUU c.? p.? Del 3'UTR variant D 86657482 86657493 3 15 324.472 - - 3 1 1 FZD4|CCDS8279.1|r.6619_6621delCUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 FZD4|CCDS8279.1|r.6619_6621delCUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 4 3 5 18 32 18 32 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759856999 11 86690587 AG A 480 PASS AP001528.1 ENST00000499504 r.? - - Del intronic D 86690587 86690593 1 24 430.222 - - 5 1 1 AP001528.1|ENST00000499504|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AP001528.1|ENST00000499504|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 5 7 6 20 32 20 32 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759857242 11 87457243 A AT 300 PASS - - - - - Ins - I 87457243 87457250 1 12 267.383 - - 6 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 4 3 23 20 25 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759857266 11 87562286 T TA 420 PASS - - - - - Ins - I 87562286 87562288 1 18 374.337 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 5 3 6 22 32 22 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759857352 11 87928924 CT C 300 PASS - - - - - Del - D 87928924 87928934 1 10 269.792 - - 9 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 1 4 1 19 14 19 14 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759857745 11 89176569 AG A 360 PASS NOX4 CCDS8285.1 r.? - - Del intronic D 89176569 89176579 1 15 320.86 - - 9 1 1 NOX4|CCDS8285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOX4|CCDS8285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 2 4 2 4 24 27 24 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759858075 11 90416588 AT A 389 PASS - - - - - Del - D 90416588 90416597 1 20 377.949 - - 8 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 3 4 4 8 10 8 10 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759858182 11 90730041 TA T 300 PASS - - - - - Del - D 90730041 90730051 1 6 270.394 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 0 6 0 24 2 24 2 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759858186 11 90739916 A AT 420 PASS - - - - - Ins - I 90739916 90739923 1 20 374.337 - - 6 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 4 3 5 3 22 22 22 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759858247 11 90931308 GA G 420 PASS - - - - - Del - D 90931308 90931316 1 20 378.551 - - 7 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 3 6 3 31 20 31 20 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759858380 11 91594809 G GA 540 PASS - - - - - Ins - I 91594809 91594816 1 30 481.29 - - 6 1 1 - - ./. 0 0 0 0 19 7 19 8 0 0 ./. 5 4 7 5 26 32 26 32 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759858562 11 92166448 GA G 360 PASS FAT3 CCDS44706.1 r.? - - Del intronic D 92166448 92166457 1 16 324.472 - - 8 1 1 FAT3|CCDS44706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAT3|CCDS44706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 3 3 5 25 28 25 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759858592 11 92260558 CA C 389 PASS FAT3 CCDS44706.1 r.? - - Del intronic D 92260558 92260566 1 18 378.551 - - 7 1 1 FAT3|CCDS44706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAT3|CCDS44706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 24 13 24 0 0 ./. 2 5 2 6 28 25 28 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759858632 11 92384729 CT C 300 PASS FAT3 CCDS44706.1 r.? - - Del intronic D 92384729 92384738 1 12 267.986 - - 8 1 1 FAT3|CCDS44706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAT3|CCDS44706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 5 3 33 22 33 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759858734 11 92819257 A AT 360 PASS - - - - - Ins - I 92819257 92819267 1 16 319.656 - - 9 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 3 5 4 30 20 30 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759858895 11 93349574 CA C 420 PASS - - - - - Del - D 93349574 93349584 1 18 378.551 - - 9 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 5 3 7 15 28 15 28 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759858928 11 93441696 CT C 360 PASS KIAA1731 CCDS44708.1 r.? - - Del intronic D 93441696 93441706 1 12 324.472 - - 9 1 1 KIAA1731|CCDS44708.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1731|CCDS44708.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 1 5 3 6 15 22 15 22 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859076 11 93896943 GT G 360 PASS PANX1 CCDS8296.1 r.? - - Del intronic D 93896943 93896951 1 15 323.87 - - 7 1 1 PANX1|CCDS8296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PANX1|CCDS8296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 2 5 2 18 27 18 27 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859090 11 93947705 CT C 600 PASS - - - - - Del - D 93947705 93947714 1 32 540.787 - - 8 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 7 5 9 30 22 30 22 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859147 11 94141214 GT G 523 PASS - - - - - Del - D 94141214 94141224 1 30 486.709 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 4 7 5 31 29 31 29 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859198 11 94336210 CT C 480 PASS PIWIL4 CCDS31656.1 r.? - - Del intronic D 94336210 94336217 1 25 432.63 - - 6 1 1 PIWIL4|CCDS31656.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIWIL4|CCDS31656.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 4 6 5 28 25 28 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859248 11 94532231 AT A 420 PASS AMOTL1 CCDS44712.1 r.? - - Del intronic D 94532231 94532241 1 20 377.949 - - 9 1 1 AMOTL1|CCDS44712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AMOTL1|CCDS44712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 3 5 4 23 24 23 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859259 11 94576486 AT A 420 PASS AMOTL1 CCDS44712.1 r.? - - Del intronic D 94576486 94576495 1 20 378.551 - - 8 1 1 AMOTL1|CCDS44712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AMOTL1|CCDS44712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 3 4 3 18 21 18 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859319 11 94771117 AG A 355 PASS - - - - - Del - D 94771117 94771123 1 18 378.551 - - 5 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 5 2 6 31 16 31 16 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859534 11 95521369 A AT 420 PASS FAM76B CCDS41700.1 r.? - - Ins intronic I 95521369 95521379 1 18 368.316 - - 9 1 1 FAM76B|CCDS41700.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM76B|CCDS41700.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 26 11 26 0 0 ./. 2 5 4 9 29 38 29 38 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859708 11 95919753 CA C 360 PASS MAML2 CCDS44714.1 r.? - - Del intronic D 95919753 95919763 1 15 324.472 - - 9 1 1 MAML2|CCDS44714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAML2|CCDS44714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 4 4 7 27 33 27 33 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859800 11 96210142 G GA 300 PASS - - - - - Ins - I 96210142 96210151 1 12 267.383 - - 8 1 1 - - ./. 0 0 0 0 15 23 15 23 0 0 ./. 2 3 3 3 24 32 24 32 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859897 11 96756729 GA G 300 PASS - - - - - Del - D 96756729 96756738 1 12 270.394 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 3 4 5 23 26 23 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759859916 11 96827411 CCT C 300 PASS - - - - - Del - D 96827411 96827426 2 6 270.394 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 0 5 0 30 2 30 2 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759860189 11 97855742 C CT 360 PASS - - - - - Ins - I 97855742 97855752 1 12 313.635 - - 9 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 5 1 7 2 26 25 26 25 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759860380 11 98336902 AT A 420 PASS - - - - - Del - D 98336902 98336912 1 14 378.551 - - 9 1 1 - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 1 6 2 5 13 32 13 32 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759860407 11 98457253 T TA 540 PASS - - - - - Ins - I 98457253 98457261 1 28 481.29 - - 7 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 3 6 5 30 20 30 20 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759860642 11 99243065 CA C 480 PASS - - - - - Del - D 99243065 99243074 1 24 432.63 - - 8 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 5 4 8 30 33 30 33 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759860684 11 99349378 AT A 300 PASS - - - - - Del - D 99349378 99349388 1 12 270.394 - - 9 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 2 3 5 7 28 7 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759860917 11 100002375 TA T 360 PASS CNTN5 ENST00000279463 r.? - - Del intronic D 100002375 100002384 1 16 323.87 - - 8 1 1 CNTN5|ENST00000279463|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN5|ENST00000279463|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 3 4 4 23 28 23 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759860981 11 100231842 GT G 420 PASS CNTN5 ENST00000279463 r.? - - Del downstream D 100231842 100231848 1 18 378.551 - - 5 1 1 CNTN5|ENST00000279463|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CNTN5|ENST00000279463|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 5 4 9 26 37 26 37 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759861109 11 100726459 TTAAA T 327 PASS ENSG00000165895 CCDS44715.1 r.? - - Del intronic D 100726459 100726467 4 14 378.551 - - 1 1 1 ENSG00000165895|CCDS44715.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000165895|CCDS44715.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 1 6 1 9 8 27 8 27 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759861323 11 101417490 A AT 360 PASS TRPC6 CCDS8311.1 r.? - - Ins intronic I 101417490 101417498 1 7 320.86 - - 7 1 1 TRPC6|CCDS8311.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRPC6|CCDS8311.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 13 25 13 0 0 ./. 0 6 1 8 5 30 5 31 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759861341 11 101505839 GA G 300 PASS - - - - - Del - D 101505839 101505849 1 10 270.394 - - 9 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 1 4 1 4 9 29 9 29 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759861541 11 102360984 CA C 300 PASS - - - - - Del - D 102360984 102360990 1 10 270.394 - - 5 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 1 4 3 5 12 20 12 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759861634 11 102638813 CT C 600 PASS MMP10 CCDS8321.1 r.? - - Del downstream D 102638813 102638823 1 32 540.787 - - 9 1 1 MMP10|CCDS8321.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MMP10|CCDS8321.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 21 6 21 0 0 ./. 7 3 7 3 28 25 28 25 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759861651 11 102721956 T TTA 360 PASS - - - - - Ins - I 102721956 102721968 2 15 315.442 - - 5 1 1 - - ./. 0 0 0 0 16 12 17 12 0 0 ./. 2 4 3 5 38 27 38 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759861661 11 102744329 C CA 360 PASS MMP12 ENST00000326227 r.? - - Ins intronic I 102744329 102744338 1 7 320.86 - - 8 1 - MMP12|ENST00000326227|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MMP12|ENST00000326227|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 24 13 24 0 0 ./. 0 6 0 6 23 34 23 34 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759861721 11 102963275 GT G 480 PASS DCUN1D5 CCDS8325.1 r.? - - Del upstream D 102963275 102963284 1 24 429.018 - - 8 1 1 DCUN1D5|CCDS8325.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 DCUN1D5|CCDS8325.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 3 5 4 35 21 35 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759861987 11 103697188 GT G 300 PASS - - - - - Del - D 103697188 103697197 1 12 270.394 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 3 4 3 29 11 29 11 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759861991 11 103732800 CT C 360 PASS - - - - - Del - D 103732800 103732810 1 16 324.472 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 3 4 4 21 27 21 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862171 11 104594864 GT G 300 PASS - - - - - Del - D 104594864 104594873 1 6 270.394 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 0 5 0 6 19 26 19 26 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862188 11 104654694 AG A 300 PASS - - - - - Del - D 104654694 104654700 1 12 270.394 - - 5 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 3 2 31 24 31 24 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862342 11 105196212 TC T 300 PASS - - - - - Del - D 105196212 105196218 1 12 270.394 - - 5 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 4 2 15 20 15 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862410 11 105425714 AT A 480 PASS - - - - - Del - D 105425714 105425724 1 21 432.63 - - 9 1 1 - - ./. 0 0 0 0 2 12 2 12 0 0 ./. 6 2 7 6 26 28 26 28 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862458 11 105611621 C CT 360 PASS GRIA4 CCDS41706.1 r.? - - Ins intronic I 105611621 105611626 1 16 320.86 - - 4 1 1 GRIA4|CCDS41706.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRIA4|CCDS41706.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 3 5 5 23 33 24 33 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862519 11 105884730 TTAAAG T 298 PASS KIAA1826 CCDS31663.1 r.? - - Del intronic D 105884730 105884740 5 7 324.472 - - 1 1 1 KIAA1826|CCDS31663.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1826|CCDS31663.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 0 6 1 6 14 26 14 26 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862578 11 106072238 GT G 360 PASS - - - - - Del - D 106072238 106072247 1 16 324.472 - - 8 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 4 6 23 27 23 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862579 11 106073554 CT C 300 PASS - - - - - Del - D 106073554 106073564 1 12 270.394 - - 9 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 3 3 3 28 21 28 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862587 11 106085856 TA T 360 PASS - - - - - Del - D 106085856 106085863 1 15 322.064 - - 6 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 2 6 2 21 13 21 13 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862598 11 106140392 CT C 420 PASS - - - - - Del - D 106140392 106140398 1 20 376.143 - - 5 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 4 4 4 25 22 25 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862678 11 106419888 GA G 420 PASS - - - - - Del - D 106419888 106419898 1 20 378.551 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 4 4 4 22 32 22 32 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862914 11 107187754 AT A 449 PASS - - - - - Del - D 107187754 107187764 1 24 431.426 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 5 5 6 32 22 33 22 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862969 11 107363848 GA G 300 PASS - - - - - Del - D 107363848 107363856 1 6 270.394 - - 7 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 5 0 5 0 21 2 21 2 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759862976 11 107384645 TA T 300 PASS ALKBH8 CCDS8337.2 r.? - - Del intronic D 107384645 107384654 1 12 270.394 - - 8 1 1 ALKBH8|CCDS8337.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALKBH8|CCDS8337.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 4 4 24 22 24 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863020 11 107491594 CA C 300 PASS ELMOD1 CCDS44723.1 r.? - - Del intronic D 107491594 107491603 1 6 266.781 - - 8 1 1 ELMOD1|CCDS44723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELMOD1|CCDS44723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 0 5 1 8 12 30 12 30 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863050 11 107567577 CT C 420 PASS - - - - - Del - D 107567577 107567586 1 8 377.949 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 0 7 1 9 25 31 25 31 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863281 11 108091141 GT G 360 PASS ATM CCDS31669.1 r.? - - Del upstream D 108091141 108091149 1 15 324.472 - - 7 1 1 ATM|CCDS31669.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 NPAT|CCDS41710.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 16 5 16 0 0 ./. 2 4 5 5 23 31 23 31 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863379 11 108425494 CA C 420 PASS EXPH5 CCDS8341.1 r.? - - Del intronic D 108425494 108425502 1 20 371.929 - - 7 1 1 EXPH5|CCDS8341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXPH5|CCDS8341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 4 5 4 26 22 26 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863433 11 108559235 A AT 420 PASS DDX10 CCDS8342.1 r.? - - Ins intronic I 108559235 108559244 1 8 374.337 - - 8 1 1 DDX10|CCDS8342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DDX10|CCDS8342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 0 7 1 8 29 26 29 26 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863476 11 108685378 CA C 360 PASS DDX10 CCDS8342.1 r.? - - Del intronic D 108685378 108685388 1 15 324.472 - - 9 1 1 DDX10|CCDS8342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DDX10|CCDS8342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 4 2 5 16 21 16 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863566 11 108895979 AT A 360 PASS - - - - - Del - D 108895979 108895988 1 15 324.472 - - 8 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 4 6 5 17 23 17 23 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863580 11 108923345 AAG A 300 PASS - - - - - Del - D 108923345 108923363 2 12 269.792 - - 8 1 - - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 3 4 5 32 23 32 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863693 11 109330205 GT G 300 PASS - - - - - Del - D 109330205 109330211 1 6 270.394 - - 5 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 0 5 1 14 6 14 6 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863717 11 109487019 C CA 420 PASS - - - - - Ins - I 109487019 109487027 1 20 374.337 - - 7 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 3 4 4 4 39 25 39 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863806 11 109820961 AG A 300 PASS - - - - - Del - D 109820961 109820969 1 12 269.792 - - 7 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 2 4 2 24 27 24 27 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759863819 11 109866106 GA G 600 PASS - - - - - Del - D 109866106 109866116 1 35 539.583 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 6 5 11 17 28 17 28 5 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759864093 11 110521437 AT A 396 PASS ARHGAP20 CCDS31673.1 r.? - - Del intronic D 110521437 110521445 1 20 377.949 - - 7 1 1 ARHGAP20|CCDS31673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP20|CCDS31673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 5 16 5 0 0 ./. 3 4 5 4 24 24 24 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759864127 11 110644595 G GT 660 PASS - - - - - Ins - I 110644595 110644603 1 42 587.039 - - 7 1 1 - - ./. 0 0 0 0 14 12 15 12 0 0 ./. 5 6 6 7 32 18 33 18 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759864319 11 111437886 GA G 300 PASS - - - - - Del - D 111437886 111437895 1 12 270.394 - - 8 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 2 4 7 27 35 27 35 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759864377 11 111588804 GA G 360 PASS SIK2 CCDS8347.1 r.? - - Del intronic D 111588804 111588814 1 15 324.472 - - 9 1 1 SIK2|CCDS8347.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SIK2|CCDS8347.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 4 6 5 22 28 22 28 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759864472 11 111918988 CTGTT C 257 PASS DLAT CCDS8354.1 r.? - - Del intronic D 111918988 111918996 4 12 270.394 - - 1 1 1 DLAT|CCDS8354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLAT|CCDS8354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 2 3 2 4 24 21 24 21 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759864562 11 112110285 C CT 300 PASS - - - - - Ins - I 112110285 112110294 1 6 266.781 - - 8 1 1 - - ./. 0 0 0 0 10 9 11 9 0 0 ./. 5 0 8 0 38 22 39 22 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759864603 11 112205930 GGT G 420 PASS AP002841.2 ENST00000504610 r.? - - Del intronic D 112205930 112205947 2 20 377.347 - - 8 1 - AP002841.2|ENST00000504610|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AP002841.2|ENST00000504610|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 4 5 9 31 31 31 31 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759864640 11 112316056 C CT 660 PASS - - - - - Ins - I 112316056 112316065 1 42 588.244 - - 8 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 6 6 7 26 29 26 30 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759864715 11 112614660 A AAT 300 PASS - - - - - Ins - I 112614660 112614670 2 12 264.373 - - 4 1 1 - - ./. 0 0 0 0 16 17 16 18 0 0 ./. 3 2 4 3 20 18 20 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759864729 11 112669195 CA C 540 PASS - - - - - Del - D 112669195 112669205 1 30 484.903 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 5 5 6 28 29 28 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759865025 11 113672812 C CT 360 PASS USP28 CCDS31680.1 r.? - - Ins intronic I 113672812 113672815 1 15 320.86 - - 2 1 1 USP28|CCDS31680.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USP28|CCDS31680.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 5 5 5 0 0 ./. 4 2 4 3 28 25 28 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759865083 11 113842591 TC T 420 PASS HTR3A CCDS8366.1 r.? - - Del upstream D 113842591 113842597 1 20 377.347 - - 5 1 1 HTR3A|CCDS8366.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HTR3A|CCDS8366.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 3 6 4 23 18 23 18 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759865150 11 114039775 GC G 360 PASS ZBTB16 CCDS8367.1 r.? - - Del intronic D 114039775 114039782 1 16 324.472 - - 6 1 1 ZBTB16|CCDS8367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZBTB16|CCDS8367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 4 3 34 19 34 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759865195 11 114183747 CA C 480 PASS NNMT CCDS8368.1 r.? - - Del downstream D 114183747 114183757 1 25 429.018 - - 9 1 1 NNMT|CCDS8368.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NNMT|CCDS8368.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 4 4 6 14 30 14 30 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759865344 11 114613870 G GT 420 PASS - - - - - Ins - I 114613870 114613879 1 14 373.735 - - 8 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 1 6 1 6 3 29 3 29 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759865526 11 115161944 GA G 300 PASS CADM1 CCDS8373.1 r.? - - Del intronic D 115161944 115161954 1 10 270.394 - - 9 1 1 CADM1|CCDS8373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADM1|CCDS8373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 4 1 8 1 32 14 32 14 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759865705 11 115643869 CT C 300 PASS - - - - - Del - D 115643869 115643878 1 12 266.179 - - 8 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 3 3 8 28 25 28 25 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759865712 11 115689736 GA G 360 PASS - - - - - Del - D 115689736 115689746 1 15 324.472 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 2 6 4 26 31 26 31 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759865830 11 116120112 GT G 540 PASS - - - - - Del - D 116120112 116120120 1 24 485.505 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 7 2 8 4 28 27 28 27 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759865909 11 116338564 TC T 300 PASS - - - - - Del - D 116338564 116338570 1 12 270.394 - - 5 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 4 4 28 26 28 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759865962 11 116514915 GAGA G 269 PASS - - - - - Del - D 116514915 116514921 3 12 267.986 - - 1 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 2 3 2 6 9 32 9 32 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866204 11 117210733 GT G 360 PASS CEP164 CCDS31683.1 r.? - - Del intronic D 117210733 117210743 1 16 323.87 - - 9 1 1 CEP164|CCDS31683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CEP164|CCDS31683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 3 6 3 26 28 26 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866237 11 117291447 A AAAAC 360 PASS - - - - - Ins - I 117291447 117291467 4 15 309.421 - - 4 1 1 - - ./. 0 0 0 0 3 7 3 7 0 0 ./. 2 4 3 4 22 31 24 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866344 11 117633153 GT G 420 PASS DSCAML1 CCDS8384.1 r.? - - Del intronic D 117633153 117633163 1 20 378.551 - - 9 1 1 DSCAML1|CCDS8384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DSCAML1|CCDS8384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 12 3 12 0 0 ./. 3 4 4 4 18 23 18 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866362 11 117710117 AC A 420 PASS FXYD6 CCDS8387.1 r.? - - Del intronic D 117710117 117710119 1 14 378.551 - - 1 1 1 FXYD6|CCDS8387.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 FXYD6|CCDS8387.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 1 6 1 8 16 27 16 27 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866403 11 117840274 CA C 660 PASS - - - - - Del - D 117840274 117840280 1 36 587.641 - - 5 1 1 - - ./. 0 0 0 0 5 5 5 5 0 0 ./. 8 3 9 4 31 21 31 21 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866424 11 117924705 G GT 360 PASS - - - - - Ins - I 117924705 117924713 1 16 320.86 - - 7 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 3 3 4 5 45 32 45 32 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866455 11 118038849 AG A 600 PASS SCN2B CCDS8390.1 r.493delC c.398delC p.P133fs*28 Del frameshift D 118038849 118038856 1 35 540.787 - - 6 1 1 SCN2B|CCDS8390.1|r.493delC|c.398delC|p.P133fs*28|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SCN2B|CCDS8390.1|r.493delC|c.398delC|p.P133fs*28|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 6 5 7 27 30 27 30 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866542 11 118269077 CTT C 480 PASS UBE4A CCDS8396.1 r.5274_5275delUU c.? p.? Del 3'UTR variant D 118269077 118269082 2 21 432.63 - - 4 1 1 UBE4A|CCDS8396.1|r.5274_5275delUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 UBE4A|CCDS8396.1|r.5274_5275delUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 6 4 6 21 26 21 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866543 11 118270012 CT C 300 PASS UBE4A CCDS8396.1 r.? - - Del downstream D 118270012 118270022 1 10 269.792 - - 9 1 1 UBE4A|CCDS8396.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ATP5L|CCDS8397.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 8 7 8 0 0 ./. 1 4 1 6 15 35 15 35 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866556 11 118299236 C CA 360 PASS - - - - - Ins - I 118299236 118299239 1 16 320.86 - - 2 1 1 - - ./. 0 0 0 0 8 13 9 14 0 0 ./. 3 3 3 3 29 28 29 30 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866574 11 118380455 TA T 360 PASS MLL CCDS31686.1 r.? - - Del intronic D 118380455 118380465 1 16 323.87 - - 9 1 1 MLL|CCDS31686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MLL|CCDS31686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 3 4 4 25 31 25 31 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866594 11 118462213 TCTC T 300 PASS ARCN1 CCDS8400.1 r.? - - Del intronic D 118462213 118462219 3 10 270.394 - - 1 1 1 ARCN1|CCDS8400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARCN1|CCDS8400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 1 4 3 5 20 27 20 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866809 11 118844121 G GT 300 PASS FOXR1 CCDS31688.1 r.? - - Ins intronic I 118844121 118844130 1 12 267.383 - - 8 1 1 FOXR1|CCDS31688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FOXR1|CCDS31688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 5 23 29 23 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866863 11 118911395 G GT 418 PASS HYOU1 CCDS8408.1 r.? - - Ins downstream I 118911395 118911404 1 24 427.211 - - 8 1 1 HYOU1|CCDS8408.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 HYOU1|CCDS8408.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 5 4 6 29 31 29 31 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866910 11 119012202 GA G 360 PASS - - - - - Del - D 119012202 119012211 1 12 324.472 - - 8 1 1 - - ./. 0 0 0 0 4 12 4 12 0 0 ./. 5 1 7 2 31 23 31 23 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866982 11 119209120 AC A 300 PASS RNF26 CCDS8419.1 r.? - - Del downstream D 119209120 119209128 1 10 270.394 - - 7 1 1 RNF26|CCDS8419.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AP003396.1|ENST00000501918|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 1 5 1 16 19 16 19 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759866983 11 119213687 TG T 360 PASS MFRP CCDS8421.1 r.1297delC c.1150delC p.H384fs*94 Del frameshift D 119213687 119213695 1 12 324.472 - - 7 1 1 MFRP|CCDS8421.1|r.1297delC|c.1150delC|p.H384fs*94|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 MFRP|CCDS8421.1|r.1297delC|c.1150delC|p.H384fs*94|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 1 7 4 29 22 29 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867138 11 119568942 C CA 360 PASS PVRL1 CCDS8426.1 r.? - - Ins intronic I 119568942 119568944 1 15 320.86 - - 1 1 1 PVRL1|CCDS8426.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PVRL1|CCDS8426.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 11 0 0 ./. 4 2 4 2 28 21 28 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867149 11 119583290 CA C 300 PASS PVRL1 CCDS8426.1 r.? - - Del intronic D 119583290 119583300 1 12 266.781 - - 9 1 1 PVRL1|CCDS8426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PVRL1|CCDS8426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 2 4 3 26 17 26 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867200 11 119745568 AC A 360 PASS - - - - - Del - D 119745568 119745574 1 15 324.472 - - 5 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 2 6 4 22 23 22 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867307 11 120190066 TA T 300 PASS POU2F3 CCDS8431.1 r.2379delA c.? p.? Del 3'UTR variant D 120190066 120190075 1 12 270.394 - - 8 1 1 POU2F3|CCDS8431.1|r.2379delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 POU2F3|CCDS8431.1|r.2379delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 3 2 26 25 26 25 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867358 11 120361945 CT C 360 PASS ARHGEF12 CCDS41727.1 r.? - - Del downstream D 120361945 120361955 1 7 324.472 - - 9 1 1 ARHGEF12|CCDS41727.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ARHGEF12|CCDS41727.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 7 12 7 0 0 ./. 6 0 10 1 27 17 27 17 10 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867442 11 120729170 GA G 540 PASS GRIK4 CCDS8433.1 r.? - - Del intronic D 120729170 120729180 1 28 485.505 - - 9 1 1 GRIK4|CCDS8433.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIK4|CCDS8433.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 6 4 7 26 25 26 25 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867463 11 120806595 CA C 300 PASS GRIK4 CCDS8433.1 r.? - - Del intronic D 120806595 120806604 1 10 270.394 - - 8 1 1 GRIK4|CCDS8433.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIK4|CCDS8433.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 4 1 6 3 27 6 27 6 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867493 11 120867141 CA C 300 PASS - - - - - Del - D 120867141 120867148 1 12 270.394 - - 6 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 3 2 4 13 30 13 30 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867531 11 121082038 GA G 300 PASS - - - - - Del - D 121082038 121082044 1 6 270.394 - - 5 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 0 5 0 6 15 29 15 29 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867592 11 121257677 TA T 420 PASS - - - - - Del - D 121257677 121257684 1 20 377.949 - - 6 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 4 6 7 20 31 20 31 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867672 11 121526682 C CT 300 PASS - - - - - Ins - I 121526682 121526690 1 12 265.577 - - 7 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 2 5 2 27 22 28 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867727 11 121710967 T TA 420 PASS - - - - - Ins - I 121710967 121710975 1 20 374.337 - - 7 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 3 6 4 40 25 40 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867805 11 121974794 TA T 420 PASS MIR125B1 ENST00000385236 r.? - - Del upstream D 121974794 121974800 1 18 378.551 - - 5 1 1 MIR125B1|ENST00000385236|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 MIR125B1|ENST00000385236|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 10 18 10 18 0 0 ./. 5 2 5 4 22 26 22 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867828 11 122036079 A AC 540 PASS - - - - - Ins - I 122036079 122036088 1 30 480.688 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 5 4 5 20 39 20 40 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867888 11 122211939 G GA 269 PASS - - - - - Ins - I 122211939 122211948 1 12 267.383 - - 8 1 1 - - ./. 0 0 0 0 13 16 14 16 0 0 ./. 2 3 3 6 27 37 27 38 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867894 11 122232033 GT G 360 PASS - - - - - Del - D 122232033 122232042 1 12 324.472 - - 8 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 1 5 2 6 28 21 28 21 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759867951 11 122489621 TG T 660 PASS - - - - - Del - D 122489621 122489629 1 42 594.866 - - 7 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 6 5 7 7 31 36 31 36 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759868194 11 123043200 CT C 420 PASS ENSG00000166250 CCDS8441.1 r.? - - Del intronic D 123043200 123043209 1 20 377.949 - - 8 1 1 ENSG00000166250|CCDS8441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000166250|CCDS8441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 4 3 4 29 16 29 16 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759868238 11 123164893 AT A 300 PASS - - - - - Del - D 123164893 123164903 1 10 270.394 - - 9 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 4 2 5 12 29 12 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759868376 11 123565381 GT G 420 PASS - - - - - Del - D 123565381 123565391 1 8 376.745 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 7 0 9 1 34 20 34 20 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759868429 11 123732225 C CT 480 PASS - - - - - Ins - I 123732225 123732234 1 21 427.211 - - 8 1 1 - - ./. 0 0 0 0 13 24 13 24 0 0 ./. 6 2 7 3 28 16 28 16 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759868692 11 124341492 AT A 300 PASS - - - - - Del - D 124341492 124341502 1 6 259.557 - - 9 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 5 0 5 0 27 1 27 1 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759868733 11 124556464 TA T 360 PASS SPA17 CCDS8450.1 r.? - - Del intronic D 124556464 124556470 1 15 324.472 - - 5 1 1 SPA17|CCDS8450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPA17|CCDS8450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 4 6 22 16 22 16 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759868747 11 124627491 A AG 300 PASS ESAM CCDS8453.1 r.? - - Ins intronic I 124627491 124627498 1 12 267.383 - - 6 1 1 ESAM|CCDS8453.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ESAM|CCDS8453.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 10 10 0 0 ./. 3 2 7 4 34 25 34 26 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759868965 11 125382875 CA C 300 PASS - - - - - Del - D 125382875 125382884 1 12 270.394 - - 8 1 - - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 5 5 22 25 22 25 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869062 11 125555547 GT G 300 PASS ACRV1 CCDS8460.1 r.? - - Del upstream D 125555547 125555557 1 12 270.394 - - 9 1 1 ACRV1|CCDS8460.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ACRV1|CCDS8460.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 4 5 25 28 25 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869183 11 125889950 GA G 360 PASS CDON CCDS8468.1 r.? - - Del intronic D 125889950 125889960 1 15 324.472 - - 9 1 - CDON|CCDS8468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDON|CCDS8468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 16 7 16 0 0 ./. 2 4 3 7 25 23 25 23 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869188 11 125905686 G GA 300 PASS CDON CCDS8468.1 r.? - - Ins intronic I 125905686 125905692 1 12 266.179 - - 5 1 1 CDON|CCDS8468.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CDON|CCDS8468.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 3 3 3 26 22 26 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869201 11 125937540 CAA C 420 PASS CDON CCDS8468.1 r.? - - Del upstream D 125937540 125937544 2 20 378.551 - - 3 1 1 CDON|CCDS8468.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CDON|CCDS8468.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 4 4 6 36 27 36 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869220 11 126022988 GC G 420 PASS - - - - - Del - D 126022988 126022994 1 20 378.551 - - 5 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 3 5 3 28 24 28 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869234 11 126053679 AT A 300 PASS - - - - - Del - D 126053679 126053688 1 12 270.394 - - 8 1 1 - - ./. 0 0 0 0 3 9 3 9 0 0 ./. 3 2 4 2 25 19 25 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869272 11 126157541 CATA C 478 PASS TIRAP CCDS8472.1 r.? - - Del intronic D 126157541 126157547 3 30 484.3 - - 1 1 1 TIRAP|CCDS8472.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TIRAP|CCDS8472.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 5 7 5 33 24 33 24 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869622 11 127269397 T TC 300 PASS - - - - - Ins - I 127269397 127269405 1 6 267.383 - - 7 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 0 5 3 8 20 27 21 27 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869658 11 127351932 GT G 480 PASS - - - - - Del - D 127351932 127351940 1 21 431.426 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 6 2 8 24 26 24 26 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869708 11 127486967 CT C 480 PASS - - - - - Del - D 127486967 127486976 1 24 432.63 - - 8 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 5 4 7 36 27 36 27 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869726 11 127597522 TA T 480 PASS - - - - - Del - D 127597522 127597528 1 24 432.63 - - 5 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 3 6 4 30 18 30 18 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759869791 11 127906034 CA C 480 PASS - - - - - Del - D 127906034 127906042 1 25 432.63 - - 7 1 1 - - ./. 0 0 0 0 14 4 14 4 0 0 ./. 4 4 5 4 24 33 24 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870039 11 128795861 TA T 300 PASS - - - - - Del - D 128795861 128795869 1 10 258.353 - - 7 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 1 4 5 4 28 26 28 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870084 11 128945793 CGAG C 418 PASS ARHGAP32 CCDS44769.1 r.? - - Del intronic D 128945793 128945801 3 25 432.63 - - 2 1 1 ARHGAP32|CCDS44769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP32|CCDS44769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 4 4 6 26 21 26 21 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870089 11 128980129 TA T 360 PASS ARHGAP32 CCDS44769.1 r.? - - Del intronic D 128980129 128980138 1 16 324.472 - - 8 1 1 ARHGAP32|CCDS44769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP32|CCDS44769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 3 3 5 25 20 25 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870205 11 129323880 CT C 269 PASS BARX2 CCDS8481.1 r.? - - Del downstream D 129323880 129323890 1 12 270.394 - - 9 1 1 BARX2|CCDS8481.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 BARX2|CCDS8481.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 2 5 2 23 22 23 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870259 11 129507295 GA G 480 PASS - - - - - Del - D 129507295 129507302 1 25 432.63 - - 6 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 4 4 6 24 30 24 30 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870316 11 129638931 G GA 300 PASS - - - - - Ins - I 129638931 129638939 1 12 267.383 - - 7 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 2 3 3 4 38 20 38 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870347 11 129708707 CT C 389 PASS TMEM45B CCDS8482.1 r.? - - Del intronic D 129708707 129708711 1 18 378.551 - - 3 1 1 TMEM45B|CCDS8482.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TMEM45B|CCDS8482.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 2 7 2 25 10 25 10 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870489 11 130169873 T TA 300 PASS ZBTB44 CCDS44776.1 r.? - - Ins intronic I 130169873 130169879 1 12 266.179 - - 5 1 1 ZBTB44|CCDS44776.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZBTB44|CCDS44776.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 2 3 3 23 16 24 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870500 11 130187311 CA C 300 PASS ZBTB44 CCDS44776.1 r.? - - Del upstream D 130187311 130187321 1 12 267.986 - - 9 1 - ZBTB44|CCDS44776.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZBTB44|CCDS44776.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 2 4 3 29 23 29 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870506 11 130212525 C CA 540 PASS - - - - - Ins - I 130212525 130212535 1 24 468.045 - - 9 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 7 3 7 23 28 23 28 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870515 11 130251402 AG A 420 PASS - - - - - Del - D 130251402 130251408 1 14 378.551 - - 5 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 1 6 1 8 28 40 28 40 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870530 11 130289781 TG T 300 PASS ADAMTS8 CCDS41732.1 r.? - - Del intronic D 130289781 130289790 1 10 270.394 - - 8 1 1 ADAMTS8|CCDS41732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS8|CCDS41732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 4 1 4 1 23 19 23 19 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870540 11 130321184 GCA G 420 PASS ADAMTS15 CCDS8488.1 r.? - - Del intronic D 130321184 130321191 2 20 378.551 - - 3 1 1 ADAMTS15|CCDS8488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS15|CCDS8488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 4 3 5 4 21 25 21 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870613 11 130621893 TA T 300 PASS - - - - - Del - D 130621893 130621902 1 6 269.792 - - 8 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 0 8 0 24 12 24 12 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870638 11 130728939 CA C 480 PASS - - - - - Del - D 130728939 130728948 1 24 432.63 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 5 7 6 14 29 14 29 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870928 11 131736682 TA T 600 PASS OPCML CCDS41733.1 r.? - - Del intronic D 131736682 131736691 1 36 540.185 - - 8 1 1 OPCML|CCDS41733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OPCML|CCDS41733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 5 5 5 7 29 31 29 31 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870936 11 131759427 TA T 420 PASS OPCML CCDS41733.1 r.? - - Del intronic D 131759427 131759437 1 20 378.551 - - 9 1 1 OPCML|CCDS41733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OPCML|CCDS41733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 4 3 8 16 35 16 35 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759870989 11 131929639 AC A 480 PASS OPCML CCDS8491.1 r.? - - Del intronic D 131929639 131929645 1 24 432.63 - - 5 1 1 OPCML|CCDS8491.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OPCML|CCDS8491.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 3 5 3 5 25 32 25 32 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871056 11 132180359 CT C 269 PASS OPCML CCDS8491.1 r.? - - Del intronic D 132180359 132180367 1 12 270.394 - - 7 1 1 OPCML|CCDS8491.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OPCML|CCDS8491.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 2 4 19 17 19 17 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871059 11 132198379 TG T 300 PASS OPCML CCDS8491.1 r.? - - Del intronic D 132198379 132198387 1 10 270.394 - - 7 1 1 OPCML|CCDS8491.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OPCML|CCDS8491.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 22 7 22 0 0 ./. 1 4 2 4 22 34 22 34 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871071 11 132280274 TA T 300 PASS - - - - - Del - D 132280274 132280284 1 10 270.394 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 1 6 2 27 24 27 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871169 11 132739812 C CA 360 PASS ENSG00000183715 CCDS8492.1 r.? - - Ins intronic I 132739812 132739819 1 12 320.86 - - 6 1 1 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 1 8 2 30 30 30 30 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871180 11 132765698 AC A 300 PASS ENSG00000183715 CCDS8492.1 r.? - - Del intronic D 132765698 132765706 1 12 270.394 - - 7 1 1 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 2 3 4 3 38 24 38 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871309 11 133296185 AT A 420 PASS ENSG00000183715 CCDS31722.1 r.? - - Del intronic D 133296185 133296195 1 20 377.949 - - 9 1 1 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 4 3 4 3 27 20 27 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871363 11 133568357 CA C 269 PASS - - - - - Del - D 133568357 133568367 1 12 270.394 - - 9 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 3 7 5 32 29 32 29 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871416 11 133815402 T TG 540 PASS IGSF9B CCDS44779.1 r.? - - Ins intronic I 133815402 133815409 1 30 479.484 - - 6 1 1 IGSF9B|CCDS44779.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IGSF9B|CCDS44779.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 4 5 5 33 20 33 20 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871457 11 133948968 CT C 300 PASS JAM3 CCDS8494.1 r.? - - Del intronic D 133948968 133948978 1 10 270.394 - - 9 1 1 JAM3|CCDS8494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JAM3|CCDS8494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 1 4 1 6 17 23 17 23 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871494 11 134074718 TCA T 300 PASS NCAPD3 CCDS31723.1 r.? - - Del intronic D 134074718 134074737 2 6 270.394 - - 9 1 - NCAPD3|CCDS31723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCAPD3|CCDS31723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 5 0 7 1 26 17 26 17 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871634 11 134668213 CT C 300 PASS - - - - - Del - D 134668213 134668223 1 12 270.394 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 2 3 3 36 24 36 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871702 11 134858931 TC T 360 PASS - - - - - Del - D 134858931 134858933 1 15 322.064 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 4 3 6 28 27 28 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871767 12 196496 CA C 360 PASS IQSEC3 CCDS31725.1 r.? - - Del intronic D 196496 196504 1 12 324.531 - - 7 1 1 IQSEC3|CCDS31725.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IQSEC3|CCDS31725.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 1 5 5 21 33 21 33 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871933 12 597157 AG A 291 PASS B4GALNT3 CCDS8504.1 r.? - - Del intronic D 597157 597163 1 12 270.443 - - 5 1 1 B4GALNT3|CCDS8504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 B4GALNT3|CCDS8504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 2 3 3 4 16 18 16 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759871941 12 602956 T TA 420 PASS B4GALNT3 CCDS8504.1 r.? - - Ins intronic I 602956 602965 1 20 374.405 - - 8 1 1 B4GALNT3|CCDS8504.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 B4GALNT3|CCDS8504.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 16 5 16 0 0 ./. 3 4 3 5 27 26 27 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872057 12 880168 CT C 300 PASS WNK1 CCDS8506.1 r.? - - Del intronic D 880168 880178 1 12 268.034 - - 9 1 1 WNK1|CCDS8506.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WNK1|CCDS8506.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 3 3 4 19 12 19 12 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872072 12 908172 T TG 269 PASS WNK1 CCDS8506.1 r.? - - Ins intronic I 908172 908180 1 10 267.432 - - 7 1 1 WNK1|CCDS8506.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WNK1|CCDS8506.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 18 9 20 0 0 ./. 4 1 4 3 23 13 24 13 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872168 12 1082195 TG T 300 PASS - - - - - Del - D 1082195 1082202 1 6 270.443 - - 6 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 0 5 1 7 25 23 25 23 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872273 12 1276780 AT A 360 PASS ERC1 CCDS8508.1 r.? - - Del intronic D 1276780 1276790 1 16 324.531 - - 9 1 1 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 3 4 23 21 23 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872442 12 1660298 T TC 480 PASS - - - - - Ins - I 1660298 1660304 1 25 427.892 - - 5 1 1 - - ./. 0 0 0 0 14 16 15 16 0 0 ./. 4 4 5 6 22 28 23 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872541 12 1859177 AT A 449 PASS ADIPOR2 CCDS8511.1 r.? - - Del intronic D 1859177 1859187 1 24 426.688 - - 9 1 1 ADIPOR2|CCDS8511.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ADIPOR2|CCDS8511.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 5 4 7 15 20 15 20 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872628 12 2231581 TG T 300 PASS CACNA1C CCDS44794.1 r.? - - Del intronic D 2231581 2231588 1 10 270.443 - - 6 1 1 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 1 5 3 28 22 28 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872650 12 2328655 AT A 420 PASS CACNA1C CCDS44794.1 r.? - - Del intronic D 2328655 2328663 1 14 378.62 - - 7 1 1 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 1 6 3 6 26 27 26 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872654 12 2370421 CA C 420 PASS CACNA1C CCDS44794.1 r.? - - Del intronic D 2370421 2370430 1 18 353.935 - - 8 1 - CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 2 5 6 5 35 17 35 17 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872681 12 2530320 CA C 360 PASS CACNA1C CCDS44794.1 r.? - - Del intronic D 2530320 2530329 1 16 324.531 - - 8 1 1 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 3 3 5 25 20 25 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872690 12 2550844 GA G 420 PASS CACNA1C CCDS44794.1 r.? - - Del intronic D 2550844 2550852 1 14 378.62 - - 7 1 1 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 6 4 6 32 29 32 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872800 12 2953258 T TA 360 PASS - - - - - Ins - I 2953258 2953264 1 15 320.919 - - 5 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 2 5 2 21 28 21 29 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759872973 12 3265554 CG C 540 PASS TSPAN9 CCDS8520.1 r.? - - Del intronic D 3265554 3265561 1 24 475.358 - - 6 1 1 TSPAN9|CCDS8520.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TSPAN9|CCDS8520.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 7 2 7 27 30 27 30 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759873067 12 3651093 G GT 360 PASS PRMT8 CCDS8521.2 r.? - - Ins intronic I 3651093 3651101 1 16 320.919 - - 7 1 1 PRMT8|CCDS8521.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRMT8|CCDS8521.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 3 4 4 26 30 26 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759873087 12 3723462 GA G 480 PASS EFCAB4B CCDS44803.1 r.? - - Del downstream D 3723462 3723472 1 25 429.698 - - 9 1 1 EFCAB4B|CCDS44803.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 EFCAB4B|CCDS44803.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 4 5 4 26 23 26 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759873106 12 3787864 GA G 540 PASS EFCAB4B CCDS44803.1 r.? - - Del intronic D 3787864 3787874 1 28 486.195 - - 9 1 1 EFCAB4B|CCDS44803.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EFCAB4B|CCDS44803.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 9 3 9 0 0 ./. 6 3 10 4 36 28 36 28 10 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759873204 12 4005753 AT A 420 PASS - - - - - Del - D 4005753 4005763 1 20 378.62 - - 9 1 1 - - ./. 0 0 0 0 20 11 20 11 0 0 ./. 4 3 5 3 31 36 31 36 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759873242 12 4136706 G GGT 360 PASS - - - - - Ins - I 4136706 4136718 2 15 316.704 - - 5 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 4 4 4 28 34 30 34 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759873395 12 4486029 CT C 389 PASS FGF23 CCDS8526.1 r.? - - Del intronic D 4486029 4486039 1 20 378.62 - - 9 1 1 FGF23|CCDS8526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF23|CCDS8526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 4 5 4 38 27 38 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759873610 12 5134555 AAGG A 329 PASS - - - - - Del - D 5134555 5134566 3 15 324.531 - - 3 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 2 5 2 30 22 30 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759873662 12 5374066 TA T 540 PASS - - - - - Del - D 5374066 5374072 1 30 486.195 - - 5 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 5 5 5 27 23 27 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759873785 12 5775725 GA G 420 PASS ANO2 CCDS44807.1 r.? - - Del intronic D 5775725 5775735 1 20 378.62 - - 9 1 1 ANO2|CCDS44807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO2|CCDS44807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 4 3 4 15 22 15 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759873975 12 6331420 T TC 300 PASS CD9 CCDS8540.1 r.? - - Ins intronic I 6331420 6331428 1 6 267.432 - - 7 1 1 CD9|CCDS8540.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CD9|CCDS8540.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 6 12 7 0 0 ./. 5 0 5 1 25 25 25 25 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874002 12 6387511 CCTT C 418 PASS - - - - - Del - D 6387511 6387519 3 21 430.3 - - 2 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 6 2 7 22 39 22 39 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874100 12 6596411 A AT 300 PASS MRPL51 CCDS8547.1 r.? - - Ins downstream I 6596411 6596414 1 12 266.83 - - 2 1 1 MRPL51|CCDS8547.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MRPL51|CCDS8547.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 4 7 4 0 0 ./. 2 3 2 8 10 23 10 23 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874113 12 6621150 CA C 329 PASS NCAPD2 CCDS8548.1 r.? - - Del intronic D 6621150 6621159 1 15 322.725 - - 8 1 1 NCAPD2|CCDS8548.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCAPD2|CCDS8548.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 4 2 5 3 23 18 23 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874131 12 6683186 CA C 300 PASS CHD4 CCDS8552.1 r.? - - Del intronic D 6683186 6683196 1 6 270.443 - - 9 1 1 CHD4|CCDS8552.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHD4|CCDS8552.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 5 0 5 2 23 20 23 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874286 12 7006537 CA C 360 PASS LRRC23 ENST00000433346 r.? - - Del intronic D 7006537 7006547 1 15 324.531 - - 9 1 1 LRRC23|ENST00000433346|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LRRC23|ENST00000433346|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 4 3 6 15 35 15 35 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874290 12 7011311 CT C 420 PASS LRRC23 CCDS8569.1 r.? - - Del upstream D 7011311 7011319 1 20 364.772 - - 7 1 1 LRRC23|CCDS8569.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LRRC23|ENST00000433346|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 3 4 3 26 24 26 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874346 12 7167062 C CT 300 PASS C1S CCDS31735.1 r.? - - Ins intronic I 7167062 7167071 1 12 267.432 - - 8 1 1 C1S|CCDS31735.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C1S|CCDS31735.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 3 2 3 2 29 18 29 18 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874475 12 7648055 AT A 480 PASS CD163 CCDS8578.1 r.? - - Del intronic D 7648055 7648065 1 21 432.708 - - 9 1 1 CD163|CCDS8578.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD163|CCDS8578.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 6 2 7 3 25 28 25 28 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874627 12 7913115 C CT 480 PASS ENSG00000205857 CCDS44826.1 r.? - - Ins upstream I 7913115 7913125 1 9 424.882 - - 9 1 1 ENSG00000205857|CCDS44826.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ENSG00000205857|CCDS44826.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 14 11 15 11 0 0 ./. 8 0 8 1 35 28 36 30 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874644 12 7933392 TA T 420 PASS - - - - - Del - D 7933392 7933401 1 20 378.62 - - 8 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 4 3 5 4 29 26 29 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874747 12 8001453 CT C 269 PASS SLC2A14 CCDS8585.1 r.? - - Del intronic D 8001453 8001463 1 12 269.239 - - 9 1 1 SLC2A14|CCDS8585.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC2A14|CCDS8585.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 3 3 5 26 19 26 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874793 12 8063300 CA C 300 PASS - - - - - Del - D 8063300 8063310 1 12 270.443 - - 9 1 1 - - ./. 0 0 0 0 7 15 7 17 0 0 ./. 3 2 3 3 24 28 24 31 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759874902 12 8246159 CA C 420 PASS NECAP1 CCDS8589.1 r.? - - Del intronic D 8246159 8246168 1 18 378.62 - - 8 1 1 NECAP1|CCDS8589.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NECAP1|CCDS8589.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 13 3 13 0 0 ./. 2 5 2 5 5 23 5 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759875032 12 8536131 CA C 476 PASS - - - - - Del - D 8536131 8536139 1 49 649.062 - - 7 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 6 6 6 7 31 27 31 27 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759875061 12 8679516 GT G 480 PASS CLEC4D CCDS8593.1 r.? - - Del downstream D 8679516 8679525 1 24 432.708 - - 8 1 1 CLEC4D|CCDS8593.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CLEC4D|CCDS8593.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 3 7 3 18 19 18 19 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759875094 12 8768420 ATG A 360 PASS AICDA CCDS41747.1 r.? - - Del upstream D 8768420 8768431 2 12 323.929 - - 5 1 1 AICDA|CCDS41747.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AICDA|CCDS41747.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 17 15 17 0 0 ./. 1 5 2 5 19 32 19 32 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759875104 12 8775060 AT A 480 PASS - - - - - Del - D 8775060 8775066 1 24 432.708 - - 5 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 3 7 4 25 14 25 14 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759875226 12 9036081 CT C 329 PASS - - - - - Del - D 9036081 9036091 1 7 324.531 - - 9 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 0 6 1 5 15 23 15 24 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759875606 12 10112914 CT C 300 PASS - - - - - Del - D 10112914 10112919 1 12 270.443 - - 4 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 2 3 3 6 12 32 12 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759875982 12 11056290 GA G 329 PASS TAS2R13 CCDS8635.1 r.? - - Del downstream D 11056290 11056300 1 15 324.531 - - 9 1 1 TAS2R13|CCDS8635.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TAS2R13|CCDS8635.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 4 3 4 14 14 14 14 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759875993 12 11100345 G GT 329 PASS TAS2R14 ENST00000381852 r.? - - Ins intronic I 11100345 11100354 1 16 315.5 - - 8 1 1 TAS2R14|ENST00000381852|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TAS2R14|ENST00000381852|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 21 11 22 0 0 ./. 3 3 3 3 29 29 30 30 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759876215 12 11585781 CCT C 300 PASS - - - - - Del - D 11585781 11585798 2 12 270.443 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 4 4 24 31 24 31 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759876354 12 11967284 TA T 360 PASS ETV6 CCDS8643.1 r.? - - Del intronic D 11967284 11967294 1 15 324.531 - - 9 1 1 ETV6|CCDS8643.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ETV6|CCDS8643.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 8 3 28 27 28 27 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759876518 12 12282495 CT C 420 PASS LRP6 CCDS8647.1 r.? - - Del intronic D 12282495 12282505 1 14 378.62 - - 9 1 1 LRP6|CCDS8647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP6|CCDS8647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 6 2 6 32 28 32 28 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759876748 12 12791370 CA C 360 PASS CREBL2 CCDS8651.1 r.? - - Del intronic D 12791370 12791380 1 12 324.531 - - 9 1 1 CREBL2|CCDS8651.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CREBL2|CCDS8651.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 1 5 2 8 13 24 13 24 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759876887 12 13017137 GT G 440 PASS - - - - - Del - D 13017137 13017145 1 25 432.106 - - 7 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 4 6 6 27 26 27 26 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759876937 12 13122243 CA C 402 PASS - - - - - Del - D 13122243 13122251 1 30 486.797 - - 7 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 4 5 7 23 31 23 31 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759877061 12 13590000 TC T 420 PASS - - - - - Del - D 13590000 13590007 1 14 378.62 - - 6 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 6 1 6 2 30 22 30 22 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759877117 12 13820376 CA C 360 PASS GRIN2B CCDS8662.1 r.? - - Del intronic D 13820376 13820385 1 15 324.531 - - 8 1 1 GRIN2B|CCDS8662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIN2B|CCDS8662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 2 7 2 20 26 20 26 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759877136 12 13882062 G GT 540 PASS GRIN2B CCDS8662.1 r.? - - Ins intronic I 13882062 13882070 1 28 481.378 - - 7 1 1 GRIN2B|CCDS8662.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRIN2B|CCDS8662.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 13 16 0 0 ./. 3 6 3 8 29 34 29 35 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759877248 12 14254327 AC A 720 PASS - - - - - Del - D 14254327 14254333 1 45 645.45 - - 5 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 8 7 7 33 30 33 30 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759877444 12 14780705 GA G 420 PASS GUCY2C CCDS8664.1 r.? - - Del intronic D 14780705 14780715 1 20 373.803 - - 9 1 1 GUCY2C|CCDS8664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GUCY2C|CCDS8664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 4 5 5 37 29 37 29 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759877662 12 15421169 G GT 300 PASS - - - - - Ins - I 15421169 15421178 1 12 259.606 - - 8 1 1 - - ./. 0 0 0 0 17 10 18 10 0 0 ./. 3 2 4 4 41 19 41 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759877756 12 15807307 C CA 420 PASS EPS8 CCDS31753.1 r.? - - Ins intronic I 15807307 15807313 1 14 374.405 - - 5 1 1 EPS8|CCDS31753.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPS8|CCDS31753.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 1 8 2 36 28 36 29 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759877845 12 16205453 CA C 269 PASS - - - - - Del - D 16205453 16205463 1 12 269.841 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 6 6 29 15 29 15 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759877873 12 16285500 CTT C 420 PASS - - - - - Del - D 16285500 16285510 2 20 378.62 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 4 5 4 25 24 25 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759877939 12 16443450 AT A 840 PASS - - - - - Del - D 16443450 16443458 1 63 750.617 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 8 6 9 22 39 22 39 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759878068 12 17081868 CA C 300 PASS - - - - - Del - D 17081868 17081876 1 12 270.443 - - 7 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 2 3 3 3 11 17 11 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759878186 12 17613521 GA G 300 PASS - - - - - Del - D 17613521 17613531 1 12 269.841 - - 9 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 2 8 2 27 17 27 17 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759878417 12 18430947 CT C 420 PASS PIK3C2G CCDS44839.1 r.? - - Del intronic D 18430947 18430954 1 18 378.018 - - 6 1 1 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 5 3 6 24 29 24 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759878460 12 18643942 AT A 720 PASS PIK3C2G CCDS44839.1 r.? - - Del intronic D 18643942 18643952 1 49 647.256 - - 9 1 1 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 6 6 8 7 21 25 21 25 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759878589 12 19176725 CT C 420 PASS - - - - - Del - D 19176725 19176731 1 18 378.62 - - 5 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 2 5 3 14 21 14 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759878624 12 19247578 C CA 420 PASS - - - - - Ins - I 19247578 19247584 1 18 373.201 - - 5 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 5 5 6 31 29 31 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759878706 12 19452801 CA C 300 PASS PLEKHA5 CCDS44840.1 r.? - - Del intronic D 19452801 19452810 1 10 265.626 - - 8 1 1 PLEKHA5|CCDS44840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLEKHA5|CCDS44840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 4 4 5 27 34 27 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759878747 12 19524938 CT C 269 PASS PLEKHA5 CCDS44840.1 r.? - - Del intronic D 19524938 19524948 1 10 270.443 - - 9 1 1 PLEKHA5|CCDS44840.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 PLEKHA5|CCDS44840.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 1 4 2 6 23 32 23 32 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759878893 12 19786520 AT A 300 PASS - - - - - Del - D 19786520 19786529 1 12 270.443 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 3 3 3 26 30 26 30 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759879132 12 20406504 CT C 360 PASS - - - - - Del - D 20406504 20406514 1 16 324.531 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 4 3 31 25 31 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759879184 12 20591892 AT A 600 PASS PDE3A CCDS31754.1 r.? - - Del intronic D 20591892 20591901 1 35 534.865 - - 8 1 1 PDE3A|CCDS31754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE3A|CCDS31754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 6 4 8 33 25 33 25 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759879411 12 21188562 AT A 420 PASS ENSG00000205754 CCDS44843.1 r.? - - Del intronic D 21188562 21188572 1 20 378.62 - - 9 1 1 ENSG00000205754|CCDS44843.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000205754|CCDS44843.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 4 3 5 12 25 12 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759879429 12 21255991 GT G 360 PASS - - - - - Del - D 21255991 21256000 1 15 324.531 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 4 2 5 14 21 14 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759879663 12 21943969 CT C 660 PASS - - - - - Del - D 21943969 21943979 1 42 591.964 - - 9 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 6 5 8 5 39 26 39 26 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759880054 12 23212619 GA G 480 PASS - - - - - Del - D 23212619 23212629 1 24 432.708 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 3 6 5 28 25 28 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759880099 12 23345080 TA T 480 PASS - - - - - Del - D 23345080 23345090 1 9 432.106 - - 9 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 8 0 8 0 21 2 21 2 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759880179 12 23651883 CT C 480 PASS - - - - - Del - D 23651883 23651893 1 24 432.708 - - 9 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 3 5 4 26 29 26 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759880182 12 23655913 GT G 300 PASS - - - - - Del - D 23655913 23655923 1 12 270.443 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 4 3 20 25 20 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759880331 12 24148754 CA C 360 PASS - - - - - Del - D 24148754 24148761 1 15 324.531 - - 6 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 2 4 2 24 23 24 23 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759880685 12 25192374 CT C 360 PASS - - - - - Del - D 25192374 25192383 1 16 324.531 - - 8 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 3 3 5 4 23 22 23 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759880767 12 25397613 AT A 300 PASS KRAS CCDS8703.1 r.? - - Del intronic D 25397613 25397623 1 10 266.83 - - 9 1 1 KRAS|CCDS8703.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KRAS|CCDS8703.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 9 21 9 0 0 ./. 4 1 5 1 26 26 26 26 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759880789 12 25436163 C CT 300 PASS - - - - - Ins - I 25436163 25436166 1 12 267.432 - - 2 1 1 - - ./. 0 0 0 0 7 5 7 6 0 0 ./. 2 3 3 3 13 21 14 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759880800 12 25451246 G GT 300 PASS - - - - - Ins - I 25451246 25451253 1 12 267.432 - - 6 1 - - - ./. 0 0 0 0 13 15 13 16 0 0 ./. 2 3 7 3 26 19 26 20 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759880820 12 25484257 A AGG 420 PASS - - - - - Ins - I 25484257 25484259 2 20 370.191 - - 1 1 1 - - ./. 0 0 0 0 7 9 7 10 0 0 ./. 4 3 5 3 33 23 33 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759880847 12 25529819 GA G 360 PASS - - - - - Del - D 25529819 25529825 1 15 324.531 - - 5 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 2 6 5 18 19 18 19 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759881066 12 26170548 CA C 600 PASS RASSF8 CCDS8705.1 r.? - - Del intronic D 26170548 26170554 1 36 539.079 - - 5 1 1 RASSF8|CCDS8705.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RASSF8|CCDS8705.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 5 5 6 5 22 18 22 18 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759881107 12 26341966 GT G 300 PASS - - - - - Del - D 26341966 26341975 1 12 270.443 - - 8 1 - - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 2 4 3 10 14 10 14 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759881240 12 26745124 TA T 360 PASS ITPR2 CCDS41764.1 r.? - - Del intronic D 26745124 26745132 1 15 324.531 - - 7 1 1 ITPR2|CCDS41764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITPR2|CCDS41764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 4 2 4 14 32 14 32 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759881297 12 26959331 GA G 360 PASS ITPR2 CCDS41764.1 r.? - - Del intronic D 26959331 26959341 1 15 324.531 - - 9 1 1 ITPR2|CCDS41764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITPR2|CCDS41764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 2 4 5 25 26 25 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759881365 12 27153401 C CT 420 PASS TM7SF3 CCDS8710.1 r.? - - Ins intronic I 27153401 27153411 1 18 374.405 - - 9 1 1 TM7SF3|CCDS8710.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TM7SF3|CCDS8710.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 19 13 19 0 0 ./. 5 2 6 2 29 14 30 14 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759881487 12 27491888 CT C 420 PASS ARNTL2 CCDS8712.1 r.? - - Del intronic D 27491888 27491897 1 14 373.803 - - 8 1 1 ARNTL2|CCDS8712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARNTL2|CCDS8712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 6 1 6 2 28 19 28 19 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882007 12 29202633 AC A 360 PASS - - - - - Del - D 29202633 29202635 1 15 324.531 - - 1 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 2 4 2 26 19 26 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882140 12 29472326 GT G 360 PASS FAR2 CCDS8717.1 r.? - - Del intronic D 29472326 29472334 1 15 324.531 - - 7 1 1 FAR2|CCDS8717.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAR2|CCDS8717.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 2 4 6 6 21 28 21 28 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882151 12 29504081 CA C 540 PASS ERGIC2 CCDS41765.1 r.? - - Del intronic D 29504081 29504091 1 28 486.797 - - 9 1 1 ERGIC2|CCDS41765.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERGIC2|CCDS41765.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 3 7 3 31 19 31 19 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882154 12 29508668 CA C 300 PASS ERGIC2 CCDS41765.1 r.? - - Del intronic D 29508668 29508677 1 12 270.443 - - 8 1 1 ERGIC2|CCDS41765.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERGIC2|CCDS41765.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 3 2 5 24 23 24 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882174 12 29555077 G GA 360 PASS - - - - - Ins - I 29555077 29555087 1 16 319.715 - - 9 1 1 - - ./. 0 0 0 0 15 19 16 20 0 0 ./. 3 3 3 3 36 23 37 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882177 12 29568888 CA C 480 PASS - - - - - Del - D 29568888 29568898 1 25 432.708 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 4 4 6 25 17 25 17 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882210 12 29670657 CT C 540 PASS TMTC1 CCDS8718.1 r.? - - Del intronic D 29670657 29670667 1 30 486.797 - - 9 1 1 TMTC1|CCDS8718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMTC1|CCDS8718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 4 5 4 5 25 33 25 33 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882213 12 29676647 AT A 300 PASS TMTC1 CCDS8718.1 r.? - - Del intronic D 29676647 29676655 1 10 270.443 - - 7 1 1 TMTC1|CCDS8718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMTC1|CCDS8718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 1 4 2 5 18 17 18 17 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882244 12 29787138 CT C 300 PASS TMTC1 CCDS8718.1 r.? - - Del intronic D 29787138 29787148 1 12 270.443 - - 9 1 1 TMTC1|CCDS8718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMTC1|CCDS8718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 2 3 2 22 28 22 28 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882265 12 29860163 GC G 540 PASS TMTC1 CCDS8718.1 r.? - - Del intronic D 29860163 29860169 1 30 484.991 - - 5 1 1 TMTC1|CCDS8718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMTC1|CCDS8718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 5 4 6 4 20 24 20 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882336 12 30185208 CAG C 360 PASS - - - - - Del - D 30185208 30185228 2 16 324.531 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 3 3 13 20 13 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882557 12 30844418 C CA 300 PASS IPO8 CCDS8719.1 r.? - - Ins intronic I 30844418 30844426 1 12 267.432 - - 7 1 1 IPO8|CCDS8719.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IPO8|CCDS8719.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 9 11 0 0 ./. 2 3 5 3 29 18 29 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882631 12 30997084 TC T 480 PASS - - - - - Del - D 30997084 30997090 1 21 430.902 - - 5 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 6 3 7 27 28 27 28 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759882705 12 31207743 G GCA 456 PASS AC008013.1 ENST00000500527 r.? - - Ins intronic I 31207743 31207756 2 16 423.075 - - 6 1 - AC008013.1|ENST00000500527|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC008013.1|ENST00000500527|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 7 1 7 1 37 37 37 37 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883038 12 31855990 TTC T 300 PASS AMN1 CCDS44858.1 r.? - - Del intronic D 31855990 31856006 2 6 270.443 - - 7 1 1 AMN1|CCDS44858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AMN1|CCDS44858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 0 6 0 29 8 29 8 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883270 12 32236347 CA C 300 PASS - - - - - Del - D 32236347 32236355 1 6 270.443 - - 7 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 0 6 1 29 16 29 16 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883510 12 32730685 CT C 300 PASS FGD4 CCDS8727.1 r.? - - Del intronic D 32730685 32730695 1 6 270.443 - - 9 1 1 FGD4|CCDS8727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGD4|CCDS8727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 0 5 2 27 25 27 25 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883516 12 32758329 AT A 300 PASS FGD4 CCDS8727.1 r.? - - Del intronic D 32758329 32758335 1 10 270.443 - - 5 1 1 FGD4|CCDS8727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGD4|CCDS8727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 2 4 32 23 32 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883762 12 33535599 CA C 300 PASS SYT10 CCDS8732.1 r.? - - Del intronic D 33535599 33535608 1 10 270.443 - - 8 1 1 SYT10|CCDS8732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYT10|CCDS8732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 1 5 1 25 11 25 11 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883811 12 33698578 CT C 600 PASS - - - - - Del - D 33698578 33698588 1 27 540.885 - - 9 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 8 2 10 3 33 23 33 23 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883865 12 33953514 CT C 360 PASS - - - - - Del - D 33953514 33953521 1 15 324.531 - - 6 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 4 2 4 2 24 22 24 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883956 12 34391426 CA C 300 PASS - - - - - Del - D 34391426 34391435 1 10 270.443 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 1 5 1 20 23 20 23 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883972 12 34466516 GT G 840 PASS - - - - - Del - D 34466516 34466525 1 55 751.821 - - 8 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 4 10 7 12 30 35 30 35 7 12 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883986 12 34582863 C CT 300 PASS - - - - - Ins - I 34582863 34582872 1 12 267.432 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 3 5 26 39 26 39 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883991 12 34593481 GT G 420 PASS - - - - - Del - D 34593481 34593488 1 20 378.018 - - 6 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 3 4 5 23 24 23 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759883995 12 34611550 TA T 420 PASS - - - - - Del - D 34611550 34611560 1 20 378.62 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 3 4 3 31 24 31 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759884178 12 38210104 CT C 509 PASS - - - - - Del - D 38210104 38210113 1 28 486.797 - - 8 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 6 4 8 31 21 31 21 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759884194 12 38267926 C CT 480 PASS - - - - - Ins - I 38267926 38267934 1 25 427.892 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 15 0 0 ./. 4 4 7 4 36 24 37 24 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759884275 12 38508312 AG A 360 PASS - - - - - Del - D 38508312 38508318 1 12 324.531 - - 5 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 5 1 8 1 31 19 31 19 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759884403 12 38780444 CA C 300 PASS - - - - - Del - D 38780444 38780452 1 12 270.443 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 2 5 16 28 16 28 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759884538 12 39270023 CT C 300 PASS CPNE8 CCDS8733.1 r.? - - Del intronic D 39270023 39270033 1 12 270.443 - - 9 1 1 CPNE8|CCDS8733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPNE8|CCDS8733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 3 4 3 17 17 17 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759884960 12 40893180 CT C 360 PASS MUC19 ENST00000398702 r.? - - Del upstream D 40893180 40893186 1 12 324.531 - - 5 1 1 MUC19|ENST00000398702|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 MUC19|ENST00000440207|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 1 6 3 30 16 30 16 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885076 12 41298222 CT C 284 PASS CNTN1 CCDS8737.1 r.? - - Del upstream D 41298222 41298232 1 12 263.218 - - 9 1 1 CNTN1|CCDS8737.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CNTN1|CCDS8737.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 5 3 17 17 17 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885276 12 42132469 CA C 360 PASS - - - - - Del - D 42132469 42132479 1 16 323.929 - - 9 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 4 4 34 17 34 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885376 12 42423803 GA G 420 PASS - - - - - Del - D 42423803 42423813 1 20 376.211 - - 9 1 1 - - ./. 0 0 0 0 6 17 6 17 0 0 ./. 4 3 5 3 20 19 20 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885417 12 42570609 C CA 300 PASS YAF2 CCDS31775.1 r.? - - Ins intronic I 42570609 42570619 1 12 262.616 - - 9 1 1 YAF2|CCDS31775.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 YAF2|CCDS31775.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 3 4 3 30 31 30 31 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885482 12 42781224 GA G 300 PASS PPHLN1 CCDS31777.1 r.? - - Del intronic D 42781224 42781233 1 12 270.443 - - 8 1 1 PPHLN1|CCDS31777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPHLN1|CCDS31777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 4 4 14 9 14 9 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885684 12 43192782 AC A 598 PASS - - - - - Del - D 43192782 43192787 1 36 594.372 - - 4 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 8 4 8 26 25 26 25 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885827 12 43803906 G GT 329 PASS ADAMTS20 ENST00000389420 r.? - - Ins intronic I 43803906 43803915 1 12 320.919 - - 8 1 1 ADAMTS20|ENST00000389420|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAMTS20|ENST00000389420|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 17 13 0 0 ./. 1 5 2 8 24 44 25 45 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885832 12 43843446 TA T 420 PASS ADAMTS20 ENST00000389420 r.? - - Del intronic D 43843446 43843456 1 20 378.62 - - 9 1 1 ADAMTS20|ENST00000389420|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS20|ENST00000389420|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 6 17 6 0 0 ./. 4 3 5 4 23 23 23 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885841 12 43875567 AT A 480 PASS ADAMTS20 ENST00000389420 r.? - - Del intronic D 43875567 43875573 1 16 432.708 - - 5 1 1 ADAMTS20|ENST00000389420|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS20|ENST00000389420|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 7 1 7 2 22 9 22 9 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885916 12 44043145 TA T 480 PASS - - - - - Del - D 44043145 44043155 1 21 432.708 - - 9 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 6 2 6 3 33 21 33 21 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885958 12 44177877 GA G 660 PASS IRAK4 CCDS8744.1 r.? - - Del intronic D 44177877 44177886 1 42 593.168 - - 8 1 1 IRAK4|CCDS8744.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IRAK4|CCDS8744.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 5 6 6 8 28 23 28 23 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759885962 12 44200933 G GT 420 PASS TWF1 CCDS31780.1 r.? - - Ins upstream I 44200933 44200943 1 18 372.599 - - 9 1 1 TWF1|CCDS31780.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 TWF1|CCDS31780.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 15 6 15 6 0 0 ./. 2 5 4 5 32 29 33 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886050 12 44422026 AT A 540 PASS TMEM117 CCDS8745.1 r.? - - Del intronic D 44422026 44422036 1 30 486.797 - - 9 1 1 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 5 4 8 4 23 28 23 28 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886081 12 44558949 CT C 300 PASS TMEM117 CCDS8745.1 r.? - - Del intronic D 44558949 44558956 1 6 270.443 - - 6 1 1 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 0 7 0 31 16 31 16 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886082 12 44559726 ATTC A 420 PASS TMEM117 CCDS8745.1 r.? - - Del intronic D 44559726 44559734 3 20 378.62 - - 2 1 1 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 3 6 4 21 24 21 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886124 12 44715813 AT A 420 PASS TMEM117 CCDS8745.1 r.? - - Del intronic D 44715813 44715816 1 18 377.416 - - 2 1 1 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 2 7 2 20 21 20 21 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886191 12 45133688 CA C 420 PASS NELL2 CCDS8746.1 r.? - - Del intronic D 45133688 45133697 1 18 378.62 - - 8 1 1 NELL2|CCDS8746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NELL2|CCDS8746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 5 2 6 2 33 7 33 7 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886192 12 45134435 GA G 420 PASS NELL2 CCDS8746.1 r.? - - Del intronic D 45134435 45134445 1 20 378.62 - - 9 1 1 NELL2|CCDS8746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NELL2|CCDS8746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 3 4 5 19 23 19 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886210 12 45176452 GA G 300 PASS NELL2 CCDS8746.1 r.? - - Del intronic D 45176452 45176460 1 10 270.443 - - 7 1 1 NELL2|CCDS8746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NELL2|CCDS8746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 1 6 1 25 5 25 5 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886319 12 45580321 ACT A 389 PASS PLEKHA9 CCDS8747.1 r.? - - Del intronic D 45580321 45580335 2 18 378.018 - - 6 1 1 PLEKHA9|CCDS8747.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLEKHA9|CCDS8747.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 5 5 6 32 31 32 31 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886341 12 45681994 CT C 300 PASS ANO6 CCDS31782.1 r.? - - Del intronic D 45681994 45682001 1 12 266.83 - - 6 1 1 ANO6|CCDS31782.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO6|CCDS31782.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 2 3 3 19 8 19 8 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886383 12 45962849 TA T 360 PASS - - - - - Del - D 45962849 45962859 1 15 324.531 - - 9 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 4 2 4 2 14 19 14 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886385 12 45966022 CACTT C 538 PASS - - - - - Del - D 45966022 45966029 4 35 540.283 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 6 4 6 4 30 15 30 15 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886495 12 46357240 GA G 360 PASS SFRS2IP CCDS8748.2 r.? - - Del intronic D 46357240 46357250 1 12 316.102 - - 9 1 1 SFRS2IP|CCDS8748.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFRS2IP|CCDS8748.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 1 5 1 5 21 23 21 23 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886499 12 46367262 TAAG T 418 PASS SFRS2IP CCDS8748.2 r.? - - Del intronic D 46367262 46367269 3 24 432.708 - - 2 1 1 SFRS2IP|CCDS8748.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SFRS2IP|CCDS8748.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 3 13 3 0 0 ./. 3 5 3 6 25 12 25 12 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886541 12 46574524 TAAAA T 269 PASS SLC38A1 CCDS41774.1 r.? - - Del downstream D 46574524 46574534 4 12 270.443 - - 9 1 1 SLC38A1|CCDS41774.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SLC38A1|CCDS41774.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 4 6 10 26 10 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886545 12 46591289 C CA 300 PASS SLC38A1 CCDS41774.1 r.? - - Ins intronic I 46591289 46591299 1 10 266.228 - - 9 1 1 SLC38A1|CCDS41774.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC38A1|CCDS41774.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 11 0 0 ./. 1 4 2 5 33 21 33 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886555 12 46632346 TCTC T 269 PASS SLC38A1 CCDS41774.1 r.? - - Del intronic D 46632346 46632352 3 12 270.443 - - 1 1 1 SLC38A1|CCDS41774.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC38A1|CCDS41774.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 2 3 3 16 27 16 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886594 12 46757461 GT G 269 PASS SLC38A2 CCDS8749.1 r.? - - Del intronic D 46757461 46757471 1 10 270.443 - - 9 1 - SLC38A2|CCDS8749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC38A2|CCDS8749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 8 20 8 0 0 ./. 1 4 4 4 24 21 24 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886603 12 46791671 CA C 542 PASS - - - - - Del - D 46791671 46791679 1 32 540.283 - - 7 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 7 4 9 29 24 29 24 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886667 12 47061717 CT C 540 PASS - - - - - Del - D 47061717 47061725 1 18 486.797 - - 7 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 8 1 11 1 29 6 29 6 11 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886678 12 47089853 T TA 420 PASS - - - - - Ins - I 47089853 47089862 1 8 356.946 - - 8 1 1 - - ./. 0 0 0 0 9 7 10 7 0 0 ./. 0 7 0 7 1 29 1 29 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759886706 12 47198081 AT A 300 PASS SLC38A4 CCDS8750.1 r.? - - Del intronic D 47198081 47198087 1 10 270.443 - - 5 1 1 SLC38A4|CCDS8750.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC38A4|CCDS8750.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 1 4 1 25 35 25 35 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887066 12 48289499 A AT 360 PASS VDR CCDS8757.1 r.? - - Ins intronic I 48289499 48289508 1 16 319.113 - - 8 1 1 VDR|CCDS8757.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 VDR|CCDS8757.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 17 9 18 0 0 ./. 3 3 5 5 26 27 28 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887140 12 48557495 GA G 360 PASS - - - - - Del - D 48557495 48557502 1 15 324.531 - - 6 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 5 4 20 21 20 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887364 12 49153507 AG A 480 PASS - - - - - Del - D 49153507 49153509 1 25 429.096 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 4 5 8 19 34 19 34 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887425 12 49305701 TA T 300 PASS CCDC65 CCDS8772.1 r.? - - Del intronic D 49305701 49305710 1 12 270.443 - - 8 1 1 CCDC65|CCDS8772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC65|CCDS8772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 2 5 4 23 26 23 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887464 12 49363739 C CG 300 PASS WNT10B CCDS8775.1 r.? - - Ins intronic I 49363739 49363748 1 6 264.422 - - 8 1 1 WNT10B|CCDS8775.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WNT10B|CCDS8775.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 15 10 0 0 ./. 5 0 6 1 38 12 39 12 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887472 12 49402004 AT A 360 PASS PRKAG1 CCDS44872.1 r.? - - Del intronic D 49402004 49402014 1 16 324.531 - - 9 1 1 PRKAG1|CCDS44872.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PRKAG1|CCDS44872.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 3 3 4 21 26 21 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887503 12 49521111 AT A 420 PASS TUBA1B CCDS31792.1 r.? - - Del downstream D 49521111 49521121 1 20 378.62 - - 9 1 1 TUBA1B|CCDS31792.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 TUBA1B|CCDS31792.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 4 3 6 22 30 22 30 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887581 12 49741027 TC T 540 PASS DNAJC22 CCDS8785.1 r.329delC c.? p.? Del 5'UTR variant D 49741027 49741029 1 30 485.593 - - 1 1 1 DNAJC22|CCDS8785.1|r.329delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 DNAJC22|CCDS8785.1|r.329delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 6 9 6 9 0 0 ./. 5 4 7 6 35 26 35 26 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887704 12 50227115 CA C 300 PASS NCKAP5L CCDS41781.2 r.? - - Del upstream D 50227115 50227125 1 6 269.841 - - 9 1 1 NCKAP5L|CCDS41781.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AC131157.4|ENST00000501091|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 0 5 0 5 3 26 3 26 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887710 12 50269414 AG A 300 PASS FAIM2 CCDS8791.1 r.? - - Del intronic D 50269414 50269421 1 10 270.443 - - 6 1 1 FAIM2|CCDS8791.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAIM2|CCDS8791.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 1 9 1 30 20 30 20 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887771 12 50393641 CT C 300 PASS RACGAP1P CCDS8795.1 r.? - - Del intronic D 50393641 50393651 1 10 270.443 - - 9 1 1 RACGAP1P|CCDS8795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RACGAP1P|CCDS8795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 1 4 1 5 15 27 15 27 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887860 12 50667342 G GA 360 PASS LIMA1 CCDS44877.1 r.? - - Ins intronic I 50667342 50667351 1 16 320.919 - - 8 1 1 LIMA1|CCDS44877.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LIMA1|CCDS44877.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 3 3 3 21 22 21 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887862 12 50673675 GA G 360 PASS LIMA1 CCDS44877.1 r.? - - Del intronic D 50673675 50673684 1 12 323.929 - - 8 1 1 LIMA1|CCDS44877.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LIMA1|CCDS44877.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 1 5 2 6 5 26 5 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759887972 12 50865639 AT A 480 PASS LARP4 CCDS44879.1 r.? - - Del intronic D 50865639 50865648 1 24 432.708 - - 8 1 1 LARP4|CCDS44879.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LARP4|CCDS44879.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 3 6 4 23 27 23 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759888152 12 51257241 C CA 540 PASS TMPRSS12 CCDS44881.1 r.? - - Ins intronic I 51257241 51257249 1 28 481.378 - - 7 1 1 TMPRSS12|CCDS44881.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMPRSS12|CCDS44881.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 6 3 1 0 25 33 27 35 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759888186 12 51344626 AT A 329 PASS HIGD1C CCDS44882.1 r.? - - Del upstream D 51344626 51344635 1 7 323.929 - - 8 1 1 HIGD1C|CCDS44882.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HIGD1C|CCDS44882.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 11 8 11 0 0 ./. 0 6 2 7 16 19 16 19 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759888341 12 51647693 CA C 780 PASS SMAGP CCDS44889.1 r.? - - Del intronic D 51647693 51647703 1 54 692.916 - - 9 1 1 SMAGP|CCDS44889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMAGP|CCDS44889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 5 8 7 9 29 32 29 32 7 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759888470 12 51943787 AC A 300 PASS - - - - - Del - D 51943787 51943793 1 6 269.841 - - 5 1 1 - - ./. 0 0 0 0 2 9 2 9 0 0 ./. 0 5 0 5 0 23 0 23 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759888484 12 51999730 G GT 314 PASS SCN8A CCDS44891.1 r.? - - Ins intronic I 51999730 51999739 1 12 320.317 - - 8 1 1 SCN8A|CCDS44891.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SCN8A|CCDS44891.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 1 5 4 7 30 39 30 39 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759888498 12 52050946 GT G 360 PASS SCN8A CCDS44891.1 r.? - - Del intronic D 52050946 52050954 1 15 324.531 - - 7 1 1 SCN8A|CCDS44891.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SCN8A|CCDS44891.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 2 6 4 22 25 22 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759888552 12 52252702 T TC 300 PASS AC068987.1 ENST00000513193 r.? - - Ins intronic I 52252702 52252711 1 12 263.218 - - 8 1 1 AC068987.1|ENST00000513193|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC068987.1|ENST00000513193|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 2 3 2 3 27 16 27 16 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759888601 12 52468743 C CA 360 PASS C12orf44 CCDS8820.1 r.? - - Ins intronic I 52468743 52468753 1 15 319.113 - - 9 1 1 C12orf44|CCDS8820.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C12orf44|CCDS8820.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 13 0 0 ./. 4 2 8 6 27 35 27 35 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759888742 12 52927230 TG T 660 PASS - - - - - Del - D 52927230 52927240 1 40 588.953 - - 9 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 7 9 12 22 28 22 28 9 12 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759888857 12 53301799 CCG C 420 PASS KRT8 CCDS8841.1 r.? - - Del upstream D 53301799 53301803 2 20 378.62 - - 1 1 1 KRT8|CCDS8841.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KRT8|CCDS8841.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 4 4 4 23 35 23 35 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759889052 12 53758750 A AT 300 PASS - - - - - Ins - I 53758750 53758756 1 12 265.626 - - 5 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 3 2 19 25 19 25 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759889100 12 53815574 TTTAG T 535 PASS AMHR2 CCDS8858.1 r.? - - Del upstream D 53815574 53815584 4 35 540.283 - - 2 1 1 AMHR2|CCDS8858.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AMHR2|CCDS8858.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 10 8 10 0 0 ./. 6 4 6 5 23 24 23 24 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759889108 12 53830472 G GT 420 PASS PRR13 CCDS44899.1 r.? - - Ins upstream I 53830472 53830480 1 14 374.405 - - 7 1 1 PRR13|CCDS44899.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 PRR13|CCDS44899.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 10 9 11 9 0 0 ./. 6 1 6 2 33 11 34 11 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759889301 12 54265217 GA G 300 PASS - - - - - Del - D 54265217 54265226 1 10 270.443 - - 8 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 1 4 1 7 18 18 18 18 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759889497 12 54826455 AC A 420 PASS - - - - - Del - D 54826455 54826462 1 20 378.62 - - 6 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 4 4 6 21 24 21 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759889583 12 55090434 GA G 420 PASS - - - - - Del - D 55090434 55090444 1 20 371.395 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 4 3 4 21 21 21 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759889896 12 56229236 AT A 629 PASS MMP19 CCDS8895.1 r.? - - Del downstream D 56229236 56229244 1 42 589.555 - - 7 1 1 MMP19|CCDS8895.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 MMP19|CCDS8895.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 10 5 10 5 0 0 ./. 5 6 8 11 23 30 23 30 8 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759890098 12 56714269 CA C 300 PASS PAN2 CCDS44922.1 r.? - - Del intronic D 56714269 56714279 1 6 270.443 - - 9 1 1 PAN2|CCDS44922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAN2|CCDS44922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 8 3 8 0 0 ./. 0 5 0 7 15 34 15 34 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759890229 12 57013034 CAGG C 334 PASS BAZ2A CCDS44924.1 r.? - - Del intronic D 57013034 57013040 3 18 378.62 - - 1 1 1 BAZ2A|CCDS44924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAZ2A|CCDS44924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 2 5 4 6 16 24 16 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759890258 12 57074335 A AT 420 PASS PTGES3 CCDS31836.1 r.? - - Ins intronic I 57074335 57074344 1 20 374.405 - - 8 1 1 PTGES3|CCDS31836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTGES3|CCDS31836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 3 6 7 27 32 28 32 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759890445 12 57661045 TA T 269 PASS R3HDM2 CCDS8937.2 r.? - - Del intronic D 57661045 57661055 1 10 270.443 - - 9 1 1 R3HDM2|CCDS8937.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 R3HDM2|CCDS8937.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 1 4 1 5 32 29 32 29 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759890575 12 57941474 GGT G 360 PASS KIF5A CCDS8945.1 r.? - - Del upstream D 57941474 57941488 2 15 324.531 - - 6 1 1 KIF5A|CCDS8945.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KIF5A|CCDS8945.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 8 7 8 0 0 ./. 2 4 2 4 16 37 16 37 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759890652 12 58162065 TA T 480 PASS FAM119B CCDS31848.1 r.? - - Del upstream D 58162065 58162074 1 9 430.902 - - 8 1 1 FAM119B|CCDS31848.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 FAM119B|CCDS31848.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 11 8 11 0 0 ./. 0 8 2 9 16 30 16 30 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759890813 12 58606309 TA T 360 PASS - - - - - Del - D 58606309 58606319 1 15 323.929 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 4 2 7 22 24 22 24 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759890853 12 58761784 GA G 300 PASS - - - - - Del - D 58761784 58761794 1 12 270.443 - - 9 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 3 2 3 5 27 21 27 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759891048 12 59637916 CA C 300 PASS - - - - - Del - D 59637916 59637925 1 12 270.443 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 4 3 27 25 27 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759891122 12 59959624 CA C 480 PASS - - - - - Del - D 59959624 59959634 1 24 432.106 - - 9 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 5 4 6 25 23 25 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759891250 12 60566741 GA G 420 PASS - - - - - Del - D 60566741 60566749 1 18 378.62 - - 7 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 2 9 5 36 28 36 28 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759891633 12 61943585 CT C 360 PASS - - - - - Del - D 61943585 61943594 1 7 324.531 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 0 6 0 6 16 25 16 25 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759891666 12 62079616 T TA 269 PASS - - - - - Ins - I 62079616 62079624 1 10 267.432 - - 7 1 1 - - ./. 0 0 0 0 5 18 5 18 0 0 ./. 1 4 2 5 34 30 34 30 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759891834 12 62792786 CT C 300 PASS USP15 CCDS8963.1 r.? - - Del intronic D 62792786 62792796 1 12 269.841 - - 9 1 1 USP15|CCDS8963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP15|CCDS8963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 3 2 18 16 18 16 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759891836 12 62810961 AG A 420 PASS - - - - - Del - D 62810961 62810963 1 20 377.416 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 4 6 4 20 30 20 30 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759891934 12 63096446 CG C 420 PASS PPM1H CCDS44934.1 r.? - - Del intronic D 63096446 63096453 1 20 378.62 - - 6 1 1 PPM1H|CCDS44934.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPM1H|CCDS44934.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 4 4 8 17 20 17 20 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759891940 12 63122724 AT A 360 PASS PPM1H CCDS44934.1 r.? - - Del intronic D 63122724 63122734 1 15 324.531 - - 9 1 1 PPM1H|CCDS44934.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPM1H|CCDS44934.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 2 4 2 4 27 24 27 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892069 12 63652991 C CA 300 PASS - - - - - Ins - I 63652991 63652997 1 12 267.432 - - 5 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 2 4 23 20 23 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892360 12 64744194 TA T 329 PASS C12orf56 CCDS44935.1 r.? - - Del intronic D 64744194 64744203 1 15 322.725 - - 8 1 1 C12orf56|CCDS44935.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C12orf56|CCDS44935.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 2 4 3 33 30 33 30 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892422 12 64901153 TG T 480 PASS - - - - - Del - D 64901153 64901155 1 24 432.106 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 5 4 7 25 35 25 35 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892534 12 65089722 GT G 300 PASS RASSF3 CCDS8969.1 r.? - - Del downstream D 65089722 65089728 1 12 270.443 - - 5 1 1 RASSF3|CCDS8969.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RASSF3|CCDS8969.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 10 6 10 0 0 ./. 2 3 2 4 9 28 9 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892541 12 65107909 CA C 360 PASS GNS CCDS8970.1 r.4440delU c.? p.? Del 3'UTR variant D 65107909 65107919 1 15 322.725 - - 9 1 1 GNS|CCDS8970.1|r.4440delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 GNS|CCDS8970.1|r.4440delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 19 10 19 0 0 ./. 2 4 2 4 35 29 35 29 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892602 12 65373160 AT A 344 PASS - - - - - Del - D 65373160 65373165 1 15 324.531 - - 4 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 2 6 6 33 22 33 22 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892606 12 65398619 G GT 600 PASS - - - - - Ins - I 65398619 65398627 1 27 534.865 - - 7 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 8 2 8 4 30 22 31 22 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892628 12 65457674 TC T 480 PASS WIF1 CCDS8971.1 r.? - - Del intronic D 65457674 65457676 1 25 432.106 - - 1 1 1 WIF1|CCDS8971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WIF1|CCDS8971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 4 4 5 25 33 25 33 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892703 12 65729390 T TTG 300 PASS MSRB3 CCDS31853.1 r.? - - Ins intronic I 65729390 65729405 2 12 262.616 - - 7 1 1 MSRB3|CCDS31853.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MSRB3|CCDS31853.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 3 2 23 39 23 39 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892775 12 66035993 GA G 360 PASS - - - - - Del - D 66035993 66036003 1 15 324.531 - - 9 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 4 2 5 3 29 33 29 33 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892835 12 66258027 TA T 360 PASS HMGA2 CCDS44936.1 r.? - - Del intronic D 66258027 66258036 1 12 324.531 - - 8 1 1 HMGA2|CCDS44936.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMGA2|CCDS44936.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 1 5 1 8 19 29 19 29 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759892848 12 66337163 GC G 360 PASS HMGA2 CCDS44936.1 r.? - - Del intronic D 66337163 66337170 1 15 324.531 - - 6 1 1 HMGA2|CCDS44936.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMGA2|CCDS44936.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 2 5 2 32 9 32 9 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759893037 12 66967788 CT C 360 PASS GRIP1 CCDS41807.1 r.? - - Del intronic D 66967788 66967796 1 12 324.531 - - 7 1 1 GRIP1|CCDS41807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIP1|CCDS41807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 1 5 4 25 41 25 41 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759893303 12 67939434 CT C 300 PASS - - - - - Del - D 67939434 67939444 1 10 270.443 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 1 4 1 30 26 30 26 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759893315 12 67992784 G GA 300 PASS - - - - - Ins - I 67992784 67992792 1 10 267.432 - - 7 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 1 4 2 5 31 13 31 13 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759893414 12 68375900 C CT 420 PASS - - - - - Ins - I 68375900 68375909 1 20 374.405 - - 8 1 - - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 4 3 6 5 35 22 36 22 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759893451 12 68539543 CT C 420 PASS - - - - - Del - D 68539543 68539553 1 14 378.018 - - 9 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 1 6 3 6 26 22 26 22 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759893564 12 68875346 CA C 660 PASS - - - - - Del - D 68875346 68875353 1 40 594.974 - - 6 1 1 - - ./. 0 0 0 0 17 6 17 6 0 0 ./. 7 4 9 4 28 28 28 28 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759893659 12 69159118 CT C 329 PASS SLC35E3 CCDS41808.1 r.1613delU c.? p.? Del 3'UTR variant D 69159118 69159127 1 7 324.531 - - 8 1 1 SLC35E3|CCDS41808.1|r.1613delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SLC35E3|CCDS41808.1|r.1613delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 16 9 16 0 0 ./. 0 6 0 7 2 24 2 24 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759893691 12 69220969 TA T 420 PASS MDM2 CCDS8986.2 r.? - - Del intronic D 69220969 69220977 1 20 378.62 - - 7 1 1 MDM2|CCDS8986.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDM2|CCDS8986.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 4 4 6 21 27 21 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759893705 12 69247179 GT G 300 PASS CPM CCDS8987.1 r.4416delA c.? p.? Del 3'UTR variant D 69247179 69247188 1 12 269.841 - - 8 1 1 CPM|CCDS8987.1|r.4416delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CPM|CCDS8987.1|r.4416delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 16 10 16 0 0 ./. 3 2 3 2 22 11 22 11 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759893712 12 69267594 CT C 360 PASS CPM CCDS8987.1 r.? - - Del intronic D 69267594 69267604 1 15 321.521 - - 9 1 1 CPM|CCDS8987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPM|CCDS8987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 2 5 2 22 20 22 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759893788 12 69528513 GA G 360 PASS - - - - - Del - D 69528513 69528523 1 15 322.123 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 4 2 9 25 38 25 38 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894241 12 70714975 TTAGA T 480 PASS CNOT2 CCDS31857.1 r.? - - Del intronic D 70714975 70714984 4 16 432.708 - - 2 1 1 CNOT2|CCDS31857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNOT2|CCDS31857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 7 1 9 1 28 8 28 8 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894247 12 70734837 AT A 360 PASS CNOT2 CCDS31857.1 r.? - - Del intronic D 70734837 70734843 1 16 324.531 - - 5 1 1 CNOT2|CCDS31857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNOT2|CCDS31857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 3 4 5 20 23 20 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894334 12 70999696 GA G 360 PASS PTPRB CCDS44943.1 r.? - - Del intronic D 70999696 70999706 1 16 324.531 - - 9 1 1 PTPRB|CCDS44943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRB|CCDS44943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 3 6 3 32 26 32 26 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894428 12 71452924 C CA 360 PASS - - - - - Ins - I 71452924 71452932 1 16 319.715 - - 7 1 - - - ./. 0 0 0 0 19 18 19 19 0 0 ./. 3 3 5 3 33 25 33 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894449 12 71564725 GA G 420 PASS TSPAN8 CCDS8999.1 r.? - - Del intronic D 71564725 71564733 1 18 378.62 - - 7 1 1 TSPAN8|CCDS8999.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TSPAN8|CCDS8999.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 5 3 6 20 27 20 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894461 12 71605602 CT C 540 PASS TSPAN8 CCDS8999.1 r.? - - Del intronic D 71605602 71605611 1 28 484.388 - - 8 1 1 TSPAN8|CCDS8999.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TSPAN8|CCDS8999.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 6 3 7 14 28 14 28 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894492 12 71754348 CA C 300 PASS TSPAN8 CCDS8999.1 r.? - - Del intronic D 71754348 71754358 1 12 269.841 - - 9 1 1 TSPAN8|CCDS8999.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TSPAN8|CCDS8999.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 3 4 10 32 10 32 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894560 12 72000126 TA T 360 PASS ZFC3H1 CCDS41813.1 r.? - - Del downstream D 72000126 72000135 1 15 324.531 - - 8 1 1 ZFC3H1|CCDS41813.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZFC3H1|CCDS41813.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 4 4 4 27 16 27 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894606 12 72097456 TA T 480 PASS TMEM19 CCDS9002.1 r.4276delA c.? p.? Del 3'UTR variant D 72097456 72097465 1 21 432.708 - - 8 1 1 TMEM19|CCDS9002.1|r.4276delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TMEM19|CCDS9002.1|r.4276delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 13 8 13 0 0 ./. 6 2 9 2 28 34 28 34 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894661 12 72296866 AT A 300 PASS TBC1D15 CCDS31858.1 r.? - - Del intronic D 72296866 72296876 1 12 270.443 - - 9 1 1 TBC1D15|CCDS31858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D15|CCDS31858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 3 6 3 31 22 31 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894712 12 72532151 CA C 480 PASS - - - - - Del - D 72532151 72532161 1 21 432.708 - - 9 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 6 2 10 4 38 21 38 21 10 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894740 12 72683162 TA T 300 PASS TRHDE CCDS9004.1 r.? - - Del intronic D 72683162 72683172 1 10 270.443 - - 9 1 1 TRHDE|CCDS9004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRHDE|CCDS9004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 1 5 1 23 14 23 14 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894773 12 72816868 AT A 360 PASS TRHDE CCDS9004.1 r.? - - Del intronic D 72816868 72816874 1 15 324.531 - - 5 1 1 TRHDE|CCDS9004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRHDE|CCDS9004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 4 2 4 2 16 11 16 11 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894796 12 72932140 G GT 360 PASS TRHDE CCDS9004.1 r.? - - Ins intronic I 72932140 72932147 1 12 320.919 - - 6 1 1 TRHDE|CCDS9004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRHDE|CCDS9004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 19 11 19 0 0 ./. 5 1 5 1 33 31 34 33 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894831 12 73074870 GT G 300 PASS - - - - - Del - D 73074870 73074877 1 6 270.443 - - 6 1 1 - - ./. 0 0 0 0 8 19 8 19 0 0 ./. 0 5 2 6 6 16 6 16 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894853 12 73199885 CT C 420 PASS - - - - - Del - D 73199885 73199894 1 20 378.018 - - 8 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 3 4 4 5 27 27 27 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894897 12 73425789 AG A 360 PASS - - - - - Del - D 73425789 73425797 1 16 320.919 - - 7 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 3 4 3 21 19 21 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894898 12 73425911 TA T 540 PASS - - - - - Del - D 73425911 73425917 1 30 486.797 - - 5 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 5 6 5 23 31 23 31 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894923 12 73526713 GAA G 300 PASS - - - - - Del - D 73526713 73526718 2 10 270.443 - - 4 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 4 2 5 7 16 7 16 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759894949 12 73628067 TA T 300 PASS - - - - - Del - D 73628067 73628077 1 10 270.443 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 1 4 1 27 19 27 19 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895022 12 73893303 CT C 329 PASS - - - - - Del - D 73893303 73893310 1 12 324.531 - - 6 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 1 5 2 6 23 22 23 22 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895095 12 74150329 C CA 360 PASS - - - - - Ins - I 74150329 74150336 1 15 319.715 - - 6 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 2 4 5 4 30 25 30 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895122 12 74275564 GT G 540 PASS - - - - - Del - D 74275564 74275574 1 28 484.991 - - 9 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 6 4 6 19 29 19 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895141 12 74365566 TA T 325 PASS - - - - - Del - D 74365566 74365575 1 14 378.62 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 6 1 10 2 30 23 30 23 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895306 12 75088115 AT A 360 PASS - - - - - Del - D 75088115 75088123 1 12 324.531 - - 7 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 1 5 1 7 5 29 5 29 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895330 12 75278514 GA G 480 PASS - - - - - Del - D 75278514 75278524 1 21 432.708 - - 9 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 2 6 2 6 11 20 11 20 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895363 12 75416219 C CT 480 PASS - - - - - Ins - I 75416219 75416228 1 25 427.892 - - 8 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 4 4 4 25 25 26 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895487 12 76021136 GA G 300 PASS - - - - - Del - D 76021136 76021145 1 6 267.432 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 0 5 1 7 2 24 2 24 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895546 12 76295474 GA G 360 PASS - - - - - Del - D 76295474 76295483 1 7 324.531 - - 8 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 6 0 6 0 27 9 27 9 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895558 12 76354644 TG T 360 PASS ENSG00000198923 ENST00000361500 r.? - - Del upstream D 76354644 76354646 1 15 320.317 - - 1 1 - ENSG00000198923|ENST00000361500|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000198923|ENST00000361500|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 2 7 4 23 22 23 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895788 12 77037815 C CA 389 PASS - - - - - Ins - I 77037815 77037824 1 8 368.385 - - 8 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 0 7 0 8 5 42 5 42 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895839 12 77171727 GAA G 300 PASS ZDHHC17 CCDS44946.1 r.? - - Del intronic D 77171727 77171733 2 12 269.841 - - 5 1 1 ZDHHC17|CCDS44946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZDHHC17|CCDS44946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 2 3 22 26 22 26 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895846 12 77193368 TAG T 420 PASS ZDHHC17 CCDS44946.1 r.? - - Del intronic D 77193368 77193373 2 20 378.018 - - 2 1 1 ZDHHC17|CCDS44946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZDHHC17|CCDS44946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 4 3 5 3 21 15 21 15 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895966 12 77607213 C CT 360 PASS - - - - - Ins - I 77607213 77607221 1 16 314.898 - - 7 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 3 3 5 3 22 13 22 13 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759895988 12 77712782 ACT A 420 PASS - - - - - Del - D 77712782 77712787 2 14 378.62 - - 2 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 1 6 3 7 24 36 24 36 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759896333 12 78861770 C CA 269 PASS - - - - - Ins - I 78861770 78861779 1 6 267.432 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 0 5 1 7 19 32 19 33 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759896340 12 78883417 C CA 300 PASS - - - - - Ins - I 78883417 78883427 1 12 267.432 - - 9 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 4 3 29 25 29 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759896388 12 79061771 GT G 360 PASS - - - - - Del - D 79061771 79061776 1 15 324.531 - - 4 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 2 5 2 26 17 26 17 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759896569 12 79944385 TC T 540 PASS - - - - - Del - D 79944385 79944392 1 30 486.797 - - 6 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 5 5 6 20 32 20 32 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759896659 12 80252959 CA C 360 PASS PPP1R12A CCDS44947.1 r.? - - Del intronic D 80252959 80252968 1 15 323.327 - - 8 1 1 PPP1R12A|CCDS44947.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R12A|CCDS44947.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 8 24 8 0 0 ./. 4 2 4 2 14 24 14 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759896703 12 80394505 AT A 360 PASS - - - - - Del - D 80394505 80394515 1 15 324.531 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 2 4 3 33 24 33 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759896720 12 80494632 CT C 420 PASS - - - - - Del - D 80494632 80494642 1 18 378.62 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 2 6 2 17 12 17 12 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759896997 12 81669905 CA C 269 PASS PPFIA2 ENST00000443686 r.? - - Del intronic D 81669905 81669914 1 12 269.239 - - 8 1 1 PPFIA2|ENST00000443686|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPFIA2|ENST00000443686|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 2 3 20 10 20 10 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759896999 12 81682366 GAGAT G 298 PASS PPFIA2 ENST00000443686 r.? - - Del intronic D 81682366 81682372 4 12 324.531 - - 1 1 1 PPFIA2|ENST00000443686|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPFIA2|ENST00000443686|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 5 2 5 16 27 16 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759897294 12 82897983 CT C 300 PASS - - - - - Del - D 82897983 82897992 1 6 270.443 - - 8 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 0 5 1 7 19 28 19 28 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759897442 12 83445602 CA C 329 PASS TMTC2 CCDS9025.1 r.? - - Del intronic D 83445602 83445610 1 15 324.531 - - 7 1 1 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 3 16 3 0 0 ./. 2 4 4 4 20 20 20 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759897468 12 83623546 TA T 417 PASS - - - - - Del - D 83623546 83623556 1 20 376.814 - - 9 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 3 4 5 4 31 17 31 17 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759897503 12 83859419 TA T 300 PASS - - - - - Del - D 83859419 83859429 1 12 270.443 - - 9 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 3 2 6 27 24 27 24 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759897566 12 84124672 GT G 420 PASS - - - - - Del - D 84124672 84124681 1 20 378.018 - - 8 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 4 3 5 5 29 37 29 37 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759897644 12 84423612 TA T 420 PASS - - - - - Del - D 84423612 84423622 1 20 378.62 - - 9 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 4 4 5 15 23 15 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759897739 12 84728952 TA T 660 PASS - - - - - Del - D 84728952 84728961 1 42 591.964 - - 8 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 6 5 6 5 26 25 26 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898071 12 86201406 TC T 360 PASS RASSF9 CCDS44950.1 r.? - - Del intronic D 86201406 86201413 1 15 324.531 - - 6 1 1 RASSF9|CCDS44950.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASSF9|CCDS44950.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 4 2 5 26 32 26 32 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898106 12 86306371 G GT 360 PASS - - - - - Ins - I 86306371 86306377 1 15 320.919 - - 5 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 2 5 2 21 7 21 7 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898133 12 86368962 GTGTC G 300 PASS MGAT4C CCDS9030.1 r.? - - Del downstream D 86368962 86368970 4 12 270.443 - - 1 1 1 MGAT4C|CCDS9030.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MGAT4C|CCDS9030.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 2 3 2 17 23 17 23 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898298 12 87151219 G GT 360 PASS - - - - - Ins - I 87151219 87151227 1 7 320.919 - - 7 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 6 0 6 0 17 6 18 6 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898527 12 88126918 AT A 360 PASS - - - - - Del - D 88126918 88126927 1 12 324.531 - - 8 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 5 1 6 2 31 11 31 11 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898636 12 88504485 C CA 360 PASS CEP290 ENST00000309041 r.? - - Ins intronic I 88504485 88504495 1 16 319.715 - - 9 1 1 CEP290|ENST00000309041|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CEP290|ENST00000309041|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 12 13 0 0 ./. 3 3 5 3 19 31 19 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898699 12 88792330 TA T 300 PASS - - - - - Del - D 88792330 88792337 1 12 270.443 - - 6 1 1 - - ./. 0 0 0 0 5 18 5 18 0 0 ./. 2 3 3 4 29 23 29 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898717 12 88901801 T TA 329 PASS KITLG CCDS31868.1 r.? - - Ins intronic I 88901801 88901807 1 12 317.306 - - 5 1 1 KITLG|CCDS31868.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KITLG|CCDS31868.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 9 10 0 0 ./. 1 5 2 8 10 33 10 33 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898718 12 88907110 CA C 300 PASS KITLG CCDS31868.1 r.? - - Del intronic D 88907110 88907120 1 12 270.443 - - 9 1 1 KITLG|CCDS31868.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KITLG|CCDS31868.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 2 3 3 3 15 9 15 9 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898781 12 89280763 TA T 300 PASS - - - - - Del - D 89280763 89280773 1 12 270.443 - - 9 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 4 4 30 29 30 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898908 12 89860948 CT C 360 PASS WDR51B CCDS31869.1 r.? - - Del intronic D 89860948 89860958 1 15 322.725 - - 9 1 1 WDR51B|CCDS31869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR51B|CCDS31869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 2 5 3 24 13 24 13 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898930 12 89915830 TAC T 360 PASS WDR51B CCDS31869.1 r.? - - Del intronic D 89915830 89915840 2 7 324.531 - - 4 1 1 WDR51B|CCDS31869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR51B|CCDS31869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 0 6 0 7 9 27 9 27 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759898999 12 90154996 A AT 360 PASS - - - - - Ins - I 90154996 90155003 1 16 320.919 - - 6 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 3 5 4 9 12 9 12 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759899032 12 90302806 TA T 600 PASS - - - - - Del - D 90302806 90302815 1 20 540.885 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 9 1 10 1 24 18 24 18 10 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759899151 12 90834466 T TA 389 PASS - - - - - Ins - I 90834466 90834472 1 20 374.405 - - 5 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 4 5 6 33 28 33 28 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759899219 12 91144094 GT G 300 PASS - - - - - Del - D 91144094 91144102 1 12 270.443 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 3 3 35 18 35 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759899376 12 91724886 G GT 540 PASS - - - - - Ins - I 91724886 91724896 1 30 479.572 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 4 6 4 26 18 26 18 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759899394 12 91827538 CA C 360 PASS - - - - - Del - D 91827538 91827548 1 16 324.531 - - 9 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 3 3 4 14 23 14 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759899405 12 91840346 GA G 360 PASS - - - - - Del - D 91840346 91840356 1 15 324.531 - - 9 1 1 - - ./. 0 0 0 0 20 9 20 9 0 0 ./. 2 4 4 5 19 25 19 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759899569 12 92405533 CT C 269 PASS - - - - - Del - D 92405533 92405539 1 10 259.004 - - 5 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 1 5 3 32 24 32 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759899599 12 92502518 TCTC T 269 PASS - - - - - Del - D 92502518 92502525 3 12 270.443 - - 2 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 2 5 24 36 24 36 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759899735 12 92892492 GT G 480 PASS - - - - - Del - D 92892492 92892500 1 21 432.708 - - 7 1 1 - - ./. 0 0 0 0 23 9 23 9 0 0 ./. 2 6 3 7 22 28 22 28 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759899856 12 93274089 GT G 360 PASS EEA1 CCDS31874.1 r.? - - Del intronic D 93274089 93274099 1 15 324.531 - - 9 1 1 EEA1|CCDS31874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EEA1|CCDS31874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 4 2 6 3 27 28 27 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759900073 12 93827909 TA T 540 PASS UBE2N CCDS31875.1 r.? - - Del intronic D 93827909 93827919 1 30 486.797 - - 9 1 1 UBE2N|CCDS31875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBE2N|CCDS31875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 5 6 5 25 24 25 24 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759900103 12 93890282 TA T 300 PASS MRPL42 CCDS9046.1 r.? - - Del intronic D 93890282 93890289 1 12 268.034 - - 6 1 1 MRPL42|CCDS9046.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRPL42|CCDS9046.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 4 2 15 9 15 9 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759900136 12 93975442 CT C 300 PASS - - - - - Del - D 93975442 93975452 1 12 270.443 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 4 4 36 20 36 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759900142 12 93995603 CT C 300 PASS - - - - - Del - D 93995603 93995612 1 12 269.841 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 2 4 7 31 7 31 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759900167 12 94082881 T TA 300 PASS CRADD CCDS9048.1 r.? - - Ins intronic I 94082881 94082890 1 12 267.432 - - 8 1 1 CRADD|CCDS9048.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CRADD|CCDS9048.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 2 3 4 8 40 27 40 27 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759900220 12 94208640 TA T 360 PASS CRADD CCDS9048.1 r.? - - Del intronic D 94208640 94208649 1 7 324.531 - - 8 1 1 CRADD|CCDS9048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRADD|CCDS9048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 0 6 2 24 23 24 23 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759900372 12 94617987 TC T 480 PASS PLXNC1 CCDS9049.1 r.? - - Del intronic D 94617987 94617994 1 24 430.3 - - 6 1 1 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 3 5 6 5 36 26 36 26 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759900437 12 94891620 AT A 360 PASS - - - - - Del - D 94891620 94891630 1 15 324.531 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 4 3 7 21 22 21 22 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759900457 12 94960284 G GC 300 PASS TMCC3 CCDS31877.1 r.? - - Ins downstream I 94960284 94960293 1 12 265.626 - - 8 1 1 TMCC3|CCDS31877.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TMCC3|CCDS31877.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 5 14 5 14 0 0 ./. 3 2 4 3 20 25 20 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759900988 12 96035570 CTT C 329 PASS - - - - - Del - D 96035570 96035574 2 12 324.531 - - 3 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 5 3 8 17 22 17 22 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759901456 12 97134840 AT A 389 PASS C12orf63 CCDS9062.1 r.? - - Del intronic D 97134840 97134848 1 20 376.814 - - 7 1 1 C12orf63|CCDS9062.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C12orf63|CCDS9062.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 4 4 7 34 22 34 22 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759901507 12 97294545 GT G 360 PASS - - - - - Del - D 97294545 97294555 1 12 324.531 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 1 5 3 6 27 27 27 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759901580 12 97527989 GA G 480 PASS - - - - - Del - D 97527989 97527999 1 21 432.708 - - 9 1 1 - - ./. 0 0 0 0 4 19 4 19 0 0 ./. 2 6 2 9 21 32 21 32 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759901921 12 98734411 CT C 300 PASS - - - - - Del - D 98734411 98734421 1 10 270.443 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 2 5 9 19 9 19 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902057 12 99037917 T TG 269 PASS APAF1 CCDS9069.1 r.? - - Ins upstream I 99037917 99037922 1 12 267.432 - - 4 1 1 APAF1|CCDS9069.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 IKBIP|CCDS9068.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 5 3 28 27 28 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902150 12 99369565 TGA T 269 PASS ANKS1B ENST00000329257 r.? - - Del intronic D 99369565 99369581 2 10 270.443 - - 7 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 1 4 1 4 13 36 13 36 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902220 12 99571124 CT C 420 PASS ANKS1B ENST00000329257 r.? - - Del intronic D 99571124 99571133 1 20 378.62 - - 8 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 3 4 3 4 27 17 27 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902230 12 99605992 TA T 300 PASS ANKS1B ENST00000329257 r.? - - Del intronic D 99605992 99605999 1 6 270.443 - - 6 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 0 5 2 6 23 34 23 34 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902234 12 99611430 G GT 360 PASS ANKS1B ENST00000329257 r.? - - Ins intronic I 99611430 99611440 1 15 317.306 - - 9 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 2 5 4 29 21 30 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902356 12 100166681 TC T 420 PASS ANKS1B ENST00000329257 r.? - - Del intronic D 100166681 100166689 1 14 377.416 - - 7 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 1 6 1 7 23 27 23 27 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902394 12 100352279 GC G 480 PASS ANKS1B ENST00000329257 r.? - - Del intronic D 100352279 100352286 1 16 431.504 - - 6 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 25 11 25 0 0 ./. 1 7 3 8 23 26 23 26 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902423 12 100500533 TA T 360 PASS UHRF1BP1L CCDS31882.1 r.? - - Del intronic D 100500533 100500543 1 16 324.531 - - 9 1 1 UHRF1BP1L|CCDS31882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UHRF1BP1L|CCDS31882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 3 5 6 19 27 19 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902550 12 100990255 AT A 300 PASS GAS2L3 CCDS9079.1 r.? - - Del intronic D 100990255 100990265 1 10 270.443 - - 9 1 1 GAS2L3|CCDS9079.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAS2L3|CCDS9079.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 1 4 1 6 21 27 21 27 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902582 12 101120663 GA G 360 PASS - - - - - Del - D 101120663 101120671 1 15 324.531 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 4 4 8 14 32 14 32 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902706 12 101609366 GT G 420 PASS - - - - - Del - D 101609366 101609370 1 14 378.62 - - 3 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 1 11 1 33 24 33 24 11 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759902941 12 102233981 GGAGT G 358 PASS - - - - - Del - D 102233981 102233994 4 20 375.609 - - 3 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 3 4 4 29 16 29 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759903026 12 102385371 CT C 300 PASS - - - - - Del - D 102385371 102385379 1 12 270.443 - - 7 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 3 3 3 29 15 29 15 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759903037 12 102453262 CAGG C 300 PASS CCDC53 CCDS44959.1 r.? - - Del intronic D 102453262 102453272 3 10 270.443 - - 3 1 1 CCDC53|CCDS44959.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC53|CCDS44959.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 1 5 2 28 17 28 17 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759903078 12 102732833 AAG A 269 PASS - - - - - Del - D 102732833 102732840 2 10 269.841 - - 3 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 1 4 2 4 30 20 30 20 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759903183 12 103096427 AT A 300 PASS - - - - - Del - D 103096427 103096436 1 10 270.443 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 4 1 4 20 25 20 25 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759903209 12 103260875 T TA 420 PASS PAH ENST00000307000 r.? - - Ins intronic I 103260875 103260881 1 20 374.405 - - 5 1 1 PAH|ENST00000307000|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PAH|ENST00000307000|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 4 4 5 30 29 30 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759903329 12 103728702 A AT 420 PASS C12orf42 CCDS44963.1 r.? - - Ins intronic I 103728702 103728712 1 18 373.201 - - 9 1 1 C12orf42|CCDS44963.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C12orf42|CCDS44963.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 5 2 8 4 28 34 28 34 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759903359 12 103855226 GA G 360 PASS C12orf42 CCDS44963.1 r.? - - Del intronic D 103855226 103855236 1 7 324.531 - - 9 1 1 C12orf42|CCDS44963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C12orf42|CCDS44963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 6 0 8 1 32 10 32 10 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759903482 12 104255534 TA T 300 PASS ENSG00000187809 ENST00000434328 r.? - - Del intronic D 104255534 104255544 1 10 270.443 - - 9 1 1 ENSG00000187809|ENST00000434328|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000187809|ENST00000434328|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 1 4 13 7 13 7 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759903678 12 104680134 TA T 300 PASS TXNRD1 ENST00000429002 r.? - - Del intronic D 104680134 104680143 1 10 268.636 - - 8 1 1 TXNRD1|ENST00000429002|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TXNRD1|ENST00000429002|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 4 3 4 22 26 22 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759903827 12 105042433 CA C 420 PASS CHST11 CCDS9099.1 r.? - - Del intronic D 105042433 105042443 1 18 376.814 - - 9 1 1 CHST11|CCDS9099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHST11|CCDS9099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 5 3 7 26 32 26 32 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904098 12 106003241 G GT 449 PASS - - - - - Ins - I 106003241 106003250 1 24 411.636 - - 8 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 3 8 4 32 25 34 25 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904187 12 106366837 GA G 480 PASS - - - - - Del - D 106366837 106366847 1 21 432.708 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 6 2 6 6 26 6 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904230 12 106583508 AAG A 300 PASS - - - - - Del - D 106583508 106583523 2 10 266.228 - - 7 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 1 4 1 3 35 35 35 35 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904344 12 106892452 CG C 300 PASS POLR3B CCDS9105.1 r.? - - Del intronic D 106892452 106892460 1 10 269.841 - - 7 1 1 POLR3B|CCDS9105.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POLR3B|CCDS9105.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 16 6 16 0 0 ./. 1 4 1 5 16 25 16 25 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904360 12 106929042 GT G 480 PASS - - - - - Del - D 106929042 106929048 1 25 432.708 - - 5 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 4 6 6 16 30 16 30 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904397 12 107052780 CA C 509 PASS RFX4 CCDS9106.1 r.? - - Del intronic D 107052780 107052787 1 30 486.797 - - 6 1 1 RFX4|CCDS9106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RFX4|CCDS9106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 4 7 6 27 25 27 25 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904433 12 107194145 AG A 480 PASS RIC8B CCDS9109.2 r.? - - Del intronic D 107194145 107194151 1 24 430.3 - - 5 1 1 RIC8B|CCDS9109.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIC8B|CCDS9109.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 3 6 4 28 30 28 30 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904541 12 107489840 CA C 420 PASS CRY1 CCDS9112.1 r.? - - Del upstream D 107489840 107489846 1 20 378.62 - - 5 1 1 CRY1|CCDS9112.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CRY1|CCDS9112.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 20 8 20 8 0 0 ./. 4 3 7 3 33 16 33 16 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904569 12 107572031 AT A 277 PASS - - - - - Del - D 107572031 107572039 1 12 270.443 - - 7 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 3 2 5 2 23 21 23 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904573 12 107582145 AG A 256 PASS - - - - - Del - D 107582145 107582150 1 18 378.62 - - 4 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 2 6 4 33 19 33 19 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904619 12 107747034 TG T 840 PASS BTBD11 CCDS31893.1 r.? - - Del intronic D 107747034 107747042 1 63 757.239 - - 7 1 1 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 8 6 8 6 32 24 32 24 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904650 12 107879226 CCTT C 300 PASS BTBD11 CCDS31893.1 r.? - - Del intronic D 107879226 107879238 3 12 270.443 - - 3 1 1 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 2 4 4 23 28 23 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904697 12 108048734 GCT G 300 PASS BTBD11 CCDS31893.1 r.? - - Del intronic D 108048734 108048749 2 10 270.443 - - 7 1 1 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 1 4 1 6 2 31 2 31 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759904713 12 108088464 GT G 420 PASS PWP1 CCDS9114.1 r.? - - Del intronic D 108088464 108088473 1 18 378.018 - - 8 1 1 PWP1|CCDS9114.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PWP1|CCDS9114.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 5 3 8 19 30 19 30 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905207 12 109593401 TTC T 360 PASS ACACB CCDS31898.1 r.? - - Del intronic D 109593401 109593404 2 15 324.531 - - 1 1 1 ACACB|CCDS31898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACACB|CCDS31898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 20 7 20 0 0 ./. 2 4 5 4 36 25 36 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905316 12 109844454 GA G 420 PASS - - - - - Del - D 109844454 109844462 1 18 378.62 - - 7 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 2 6 2 24 9 24 9 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905408 12 110044287 AT A 300 PASS - - - - - Del - D 110044287 110044297 1 12 270.443 - - 9 1 1 - - ./. 0 0 0 0 3 14 3 14 0 0 ./. 2 3 3 4 28 20 28 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905436 12 110101274 A AC 300 PASS - - - - - Ins - I 110101274 110101283 1 10 267.432 - - 8 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 1 4 2 5 24 38 24 38 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905453 12 110136508 C CA 420 PASS - - - - - Ins - I 110136508 110136515 1 20 374.405 - - 6 1 1 - - ./. 0 0 0 0 8 5 9 5 0 0 ./. 4 3 7 3 38 23 38 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905462 12 110184293 C CA 360 PASS C12orf34 CCDS9133.1 r.? - - Ins intronic I 110184293 110184302 1 15 320.919 - - 8 1 1 C12orf34|CCDS9133.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C12orf34|CCDS9133.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 15 16 0 0 ./. 2 4 3 5 27 34 27 34 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905525 12 110313729 AAAG A 387 PASS GLTP CCDS9136.1 r.? - - Del intronic D 110313729 110313733 3 24 432.708 - - 1 1 1 GLTP|CCDS9136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLTP|CCDS9136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 5 3 6 26 31 26 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905680 12 110762066 AT A 420 PASS ATP2A2 CCDS9144.1 r.? - - Del intronic D 110762066 110762075 1 20 378.62 - - 8 1 1 ATP2A2|CCDS9144.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP2A2|CCDS9144.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 4 3 4 21 26 21 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905846 12 111119799 GT G 569 PASS HVCN1 CCDS31900.1 r.? - - Del intronic D 111119799 111119809 1 36 540.283 - - 9 1 1 HVCN1|CCDS31900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HVCN1|CCDS31900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 5 5 6 26 23 26 23 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905887 12 111213796 GA G 300 PASS - - - - - Del - D 111213796 111213805 1 12 260.81 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 3 5 5 32 11 32 11 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905962 12 111381554 G GA 360 PASS - - - - - Ins - I 111381554 111381564 1 15 320.317 - - 9 1 1 - - ./. 0 0 0 0 17 6 17 6 0 0 ./. 4 2 4 2 32 17 32 17 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759905993 12 111468912 A AT 300 PASS CUX2 CCDS41837.1 r.? - - Ins upstream I 111468912 111468920 1 6 267.432 - - 7 1 1 CUX2|CCDS41837.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CUX2|CCDS41837.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 17 16 18 16 0 0 ./. 0 5 0 6 20 30 20 30 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906008 12 111540668 CA C 420 PASS CUX2 CCDS41837.1 r.? - - Del intronic D 111540668 111540678 1 20 376.814 - - 9 1 1 CUX2|CCDS41837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUX2|CCDS41837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 4 3 4 3 22 24 22 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906144 12 111940231 C CT 360 PASS ATXN2 CCDS31902.1 r.? - - Ins intronic I 111940231 111940241 1 15 320.919 - - 9 1 1 ATXN2|CCDS31902.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATXN2|CCDS31902.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 14 0 0 ./. 2 4 4 4 38 27 38 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906170 12 112007242 GA G 300 PASS ATXN2 CCDS31902.1 r.? - - Del intronic D 112007242 112007251 1 12 266.83 - - 8 1 1 ATXN2|CCDS31902.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATXN2|CCDS31902.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 3 2 28 26 28 26 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906242 12 112151733 TC T 420 PASS ACAD10 CCDS44973.1 r.? - - Del intronic D 112151733 112151743 1 18 363.568 - - 9 1 1 ACAD10|CCDS44973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACAD10|CCDS44973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 5 4 8 22 29 22 29 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906371 12 112476834 TA T 420 PASS NAA25 CCDS9159.1 r.? - - Del intronic D 112476834 112476844 1 20 378.018 - - 9 1 1 NAA25|CCDS9159.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAA25|CCDS9159.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 4 5 4 25 32 25 32 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906475 12 112809385 G GA 300 PASS - - - - - Ins - I 112809385 112809395 1 12 257.197 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 2 4 3 21 30 21 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906490 12 112837751 CA C 480 PASS - - - - - Del - D 112837751 112837761 1 24 430.902 - - 9 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 3 5 3 26 31 26 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906518 12 112914809 CT C 300 PASS PTPN11 CCDS9163.1 r.? - - Del intronic D 112914809 112914819 1 12 270.443 - - 9 1 1 PTPN11|CCDS9163.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN11|CCDS9163.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 3 3 3 24 23 24 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906718 12 113593481 GA G 360 PASS DDX54 CCDS44984.1 r.? - - Del downstream D 113593481 113593491 1 12 324.531 - - 9 1 1 DDX54|CCDS44984.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CCDC42B|CCDS44983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 1 5 1 31 23 31 23 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906783 12 113841767 AC A 420 PASS SDS CCDS9169.1 r.? - - Del upstream D 113841767 113841776 1 14 373.201 - - 8 1 1 SDS|CCDS9169.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SDS|CCDS9169.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 18 7 18 7 0 0 ./. 6 1 7 2 26 29 26 29 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906809 12 113905273 TC T 480 PASS LHX5 CCDS9171.1 r.? - - Del intronic D 113905273 113905281 1 9 432.708 - - 7 1 1 LHX5|CCDS9171.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHX5|CCDS9171.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 8 0 9 0 33 32 33 32 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906933 12 114231870 CTG C 360 PASS - - - - - Del - D 114231870 114231875 2 12 324.531 - - 2 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 5 1 5 13 26 13 26 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906952 12 114315713 G GA 360 PASS RBM19 CCDS9172.1 r.? - - Ins intronic I 114315713 114315721 1 15 320.919 - - 7 1 1 RBM19|CCDS9172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBM19|CCDS9172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 2 4 5 5 27 25 27 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759906975 12 114371475 AG A 300 PASS RBM19 CCDS9172.1 r.? - - Del intronic D 114371475 114371481 1 12 270.443 - - 5 1 1 RBM19|CCDS9172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBM19|CCDS9172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 2 4 3 20 23 20 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759907015 12 114500335 TA T 387 PASS - - - - - Del - D 114500335 114500343 1 48 649.062 - - 7 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 7 6 7 20 31 20 31 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759907187 12 114986594 AT A 300 PASS - - - - - Del - D 114986594 114986603 1 12 269.239 - - 8 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 2 3 2 31 18 31 18 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759907541 12 115909434 TA T 360 PASS - - - - - Del - D 115909434 115909442 1 16 324.531 - - 7 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 3 8 3 21 27 21 27 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759907558 12 115975028 T TG 360 PASS - - - - - Ins - I 115975028 115975037 1 15 319.113 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 14 0 0 ./. 4 2 5 5 29 14 29 14 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759907562 12 115990408 AT A 420 PASS - - - - - Del - D 115990408 115990417 1 14 378.62 - - 8 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 1 6 2 8 22 26 22 26 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759907767 12 116668038 CA C 420 PASS MED13L CCDS9177.1 r.? - - Del intronic D 116668038 116668047 1 14 361.762 - - 8 1 1 MED13L|CCDS9177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MED13L|CCDS9177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 6 4 7 17 21 17 21 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759907837 12 116815086 TA T 300 PASS - - - - - Del - D 116815086 116815094 1 10 268.034 - - 7 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 1 4 3 6 27 33 27 33 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759907910 12 116988155 GCT G 480 PASS - - - - - Del - D 116988155 116988173 2 24 432.708 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 5 6 6 29 18 29 18 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759908244 12 117845824 CTT C 420 PASS - - - - - Del - D 117845824 117845828 2 20 378.62 - - 3 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 4 3 4 35 41 35 41 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759908263 12 117902289 CT C 480 PASS KSR2 ENST00000425217 r.5535delA c.? p.? Del 3'UTR variant D 117902289 117902299 1 24 427.892 - - 9 1 1 KSR2|ENST00000425217|r.5535delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 KSR2|ENST00000425217|r.5535delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 3 7 3 25 35 25 35 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759908324 12 118155323 C CA 360 PASS KSR2 ENST00000425217 r.? - - Ins intronic I 118155323 118155329 1 15 320.919 - - 5 1 1 KSR2|ENST00000425217|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KSR2|ENST00000425217|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 4 2 5 16 36 16 36 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759908523 12 118570769 CA C 420 PASS PEBP1 CCDS9187.1 r.? - - Del upstream D 118570769 118570778 1 8 378.62 - - 8 1 1 PEBP1|CCDS9187.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PEBP1|CCDS9187.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 3 9 3 9 0 0 ./. 0 7 2 7 5 30 5 30 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759908530 12 118583914 A AG 360 PASS TAOK3 CCDS9188.1 r.? - - Ins downstream I 118583914 118583923 1 15 319.113 - - 8 1 1 TAOK3|CCDS9188.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TAOK3|CCDS9188.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 2 6 2 28 21 28 21 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759908538 12 118600471 GA G 360 PASS TAOK3 CCDS9188.1 r.? - - Del intronic D 118600471 118600481 1 15 324.531 - - 9 1 1 TAOK3|CCDS9188.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TAOK3|CCDS9188.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 4 5 21 26 21 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759908605 12 118816206 CT C 420 PASS SUDS3 CCDS44993.1 r.? - - Del intronic D 118816206 118816216 1 18 378.62 - - 9 1 1 SUDS3|CCDS44993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUDS3|CCDS44993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 2 5 3 7 10 24 10 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759908944 12 119757453 GA G 480 PASS - - - - - Del - D 119757453 119757463 1 24 432.708 - - 9 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 5 3 5 4 17 24 17 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759909418 12 120972819 TG T 329 PASS RNF10 CCDS9201.1 r.? - - Del intronic D 120972819 120972824 1 16 322.123 - - 4 1 1 RNF10|CCDS9201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF10|CCDS9201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 3 4 3 19 22 19 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759909856 12 121764702 CA C 360 PASS ANAPC5 CCDS9220.1 r.? - - Del intronic D 121764702 121764710 1 7 323.327 - - 7 1 1 ANAPC5|CCDS9220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANAPC5|CCDS9220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 2 14 2 0 0 ./. 0 6 1 11 20 31 20 31 1 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910082 12 122316264 GT G 269 PASS - - - - - Del - D 122316264 122316272 1 12 270.443 - - 7 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 2 6 4 25 32 25 32 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910141 12 122421141 CA C 300 PASS WDR66 CCDS41853.1 r.? - - Del intronic D 122421141 122421151 1 12 270.443 - - 9 1 1 WDR66|CCDS41853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR66|CCDS41853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 2 3 3 22 27 22 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910191 12 122490515 CTG C 360 PASS BCL7A CCDS9226.1 r.? - - Del intronic D 122490515 122490520 2 12 324.531 - - 2 1 1 BCL7A|CCDS9226.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCL7A|CCDS9226.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 1 5 2 5 24 28 24 28 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910338 12 122798281 CA C 300 PASS CLIP1 CCDS9232.1 r.? - - Del intronic D 122798281 122798291 1 12 270.443 - - 9 1 1 CLIP1|CCDS9232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLIP1|CCDS9232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 2 3 2 5 29 31 29 31 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910401 12 122901546 CA C 480 PASS CLIP1 CCDS9232.1 r.? - - Del intronic D 122901546 122901556 1 21 432.708 - - 9 1 1 CLIP1|CCDS9232.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CLIP1|CCDS9232.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 6 2 6 3 25 25 25 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910583 12 123247375 CT C 329 PASS DENR CCDS45003.1 r.? - - Del intronic D 123247375 123247385 1 15 324.531 - - 9 1 1 DENR|CCDS45003.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DENR|CCDS45003.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 4 2 5 12 27 12 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910601 12 123276006 CT C 300 PASS CCDC62 CCDS9238.1 r.? - - Del intronic D 123276006 123276015 1 10 268.034 - - 8 1 1 CCDC62|CCDS9238.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC62|CCDS9238.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 1 4 2 27 15 27 15 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910642 12 123360150 AG A 298 PASS VPS37B CCDS9239.1 r.? - - Del intronic D 123360150 123360157 1 12 324.531 - - 6 1 1 VPS37B|CCDS9239.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS37B|CCDS9239.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 1 5 2 6 27 14 27 14 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910706 12 123584183 GT G 420 PASS PITPNM2 CCDS9242.1 r.? - - Del intronic D 123584183 123584191 1 18 378.018 - - 7 1 1 PITPNM2|CCDS9242.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PITPNM2|CCDS9242.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 2 5 2 28 13 28 13 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910708 12 123593795 GA G 600 PASS PITPNM2 CCDS9242.1 r.? - - Del intronic D 123593795 123593803 1 35 540.885 - - 7 1 1 PITPNM2|CCDS9242.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PITPNM2|CCDS9242.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 6 5 7 26 34 26 34 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910947 12 123958907 CT C 300 PASS RILPL1 CCDS45006.1 r.? - - Del intronic D 123958907 123958917 1 12 270.443 - - 9 1 1 RILPL1|CCDS45006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RILPL1|CCDS45006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 5 4 30 23 30 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759910959 12 123990183 G GT 480 PASS RILPL1 CCDS45006.1 r.? - - Ins intronic I 123990183 123990192 1 21 427.892 - - 8 1 1 RILPL1|CCDS45006.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RILPL1|CCDS45006.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 12 0 0 ./. 6 2 6 2 20 25 20 25 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759911004 12 124072282 G GT 480 PASS TMED2 CCDS9250.1 r.? - - Ins intronic I 124072282 124072290 1 24 427.892 - - 7 1 1 TMED2|CCDS9250.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMED2|CCDS9250.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 5 3 5 18 42 18 43 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759911175 12 124515996 A AT 300 PASS - - - - - Ins - I 124515996 124515999 1 12 266.228 - - 2 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 2 4 2 25 9 25 9 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759911245 12 124674597 AT A 420 PASS - - - - - Del - D 124674597 124674607 1 20 378.62 - - 9 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 3 4 3 22 29 22 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759911363 12 125095235 TA T 300 PASS - - - - - Del - D 125095235 125095244 1 12 270.443 - - 8 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 6 3 29 27 29 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759911461 12 125351357 C CT 360 PASS SCARB1 CCDS9259.1 r.? - - Ins upstream I 125351357 125351367 1 15 320.919 - - 9 1 1 SCARB1|CCDS9259.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 AC126309.2|ENST00000501570|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 4 2 7 29 38 30 39 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759911551 12 125493690 AT A 420 PASS BRI3BP CCDS9262.1 r.? - - Del intronic D 125493690 125493699 1 20 378.62 - - 8 1 1 BRI3BP|CCDS9262.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRI3BP|CCDS9262.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 4 18 4 0 0 ./. 3 4 5 4 24 17 24 17 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759911725 12 126049511 GA G 300 PASS TMEM132B CCDS41859.1 r.? - - Del intronic D 126049511 126049517 1 10 270.443 - - 5 1 1 TMEM132B|CCDS41859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM132B|CCDS41859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 4 4 6 23 34 23 34 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759911759 12 126188026 AT A 360 PASS - - - - - Del - D 126188026 126188031 1 15 324.531 - - 4 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 2 5 2 26 16 26 16 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759911808 12 126302791 CT C 780 PASS - - - - - Del - D 126302791 126302800 1 44 702.549 - - 8 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 10 3 11 21 43 21 43 3 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759911890 12 126585144 GT G 660 PASS - - - - - Del - D 126585144 126585153 1 40 594.974 - - 8 1 - - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 7 7 7 29 30 29 30 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759911956 12 126861754 AT A 360 PASS - - - - - Del - D 126861754 126861762 1 16 323.929 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 3 3 4 26 26 26 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759912191 12 127538882 AT A 300 PASS AC078878.2 ENST00000512624 r.? - - Del intronic D 127538882 127538888 1 12 270.443 - - 5 1 1 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 20 8 20 0 0 ./. 3 2 3 2 23 25 23 25 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759912297 12 127853306 CA C 300 PASS - - - - - Del - D 127853306 127853312 1 12 269.239 - - 5 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 3 3 3 20 23 20 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759912307 12 127866833 T TTG 300 PASS - - - - - Ins - I 127866833 127866848 2 10 264.422 - - 7 1 1 - - ./. 0 0 0 0 3 11 3 11 0 0 ./. 1 4 1 6 6 32 6 32 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759912335 12 127941484 A AG 300 PASS - - - - - Ins - I 127941484 127941491 1 12 267.432 - - 6 1 1 - - ./. 0 0 0 0 7 21 7 22 0 0 ./. 3 2 3 3 15 33 15 34 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759912394 12 128080989 TA T 360 PASS - - - - - Del - D 128080989 128080996 1 7 322.725 - - 6 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 0 6 0 8 21 25 21 25 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759912398 12 128091265 TA T 360 PASS - - - - - Del - D 128091265 128091274 1 15 324.531 - - 8 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 2 4 5 4 19 31 19 31 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759912505 12 128332836 CA C 420 PASS - - - - - Del - D 128332836 128332846 1 20 378.62 - - 9 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 4 3 8 3 31 13 31 13 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759912785 12 129046602 C CA 300 PASS TMEM132C CCDS45009.1 r.? - - Ins intronic I 129046602 129046605 1 6 266.228 - - 2 1 1 TMEM132C|CCDS45009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM132C|CCDS45009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 0 8 1 30 18 31 18 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759912923 12 129401592 GT G 300 PASS GLT1D1 CCDS9265.1 r.? - - Del intronic D 129401592 129401602 1 12 270.443 - - 9 1 1 GLT1D1|CCDS9265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLT1D1|CCDS9265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 2 5 3 21 21 21 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759912945 12 129448208 GT G 480 PASS GLT1D1 CCDS9265.1 r.? - - Del intronic D 129448208 129448216 1 25 432.708 - - 7 1 1 GLT1D1|CCDS9265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLT1D1|CCDS9265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 4 6 7 27 25 27 25 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759913015 12 129608336 TTC T 360 PASS TMEM132D CCDS9266.1 r.? - - Del intronic D 129608336 129608353 2 15 324.531 - - 8 1 1 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 4 3 5 29 25 29 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759913066 12 129728090 AT A 360 PASS TMEM132D CCDS9266.1 r.? - - Del intronic D 129728090 129728099 1 7 324.531 - - 8 1 1 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 14 5 14 0 0 ./. 6 0 8 0 28 8 28 8 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759913098 12 129839835 CT C 600 PASS TMEM132D CCDS9266.1 r.? - - Del intronic D 129839835 129839845 1 35 540.283 - - 9 1 1 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 4 6 4 10 25 34 25 34 4 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759913112 12 129865387 A AT 300 PASS TMEM132D CCDS9266.1 r.? - - Ins intronic I 129865387 129865396 1 12 267.432 - - 8 1 1 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 19 0 0 ./. 3 2 4 4 34 33 34 33 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759913530 12 131029569 GT G 360 PASS - - - - - Del - D 131029569 131029577 1 15 324.531 - - 7 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 4 3 5 18 19 18 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759914000 12 132306586 CA C 360 PASS - - - - - Del - D 132306586 132306596 1 16 320.317 - - 9 1 - - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 3 4 6 31 34 31 34 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759914008 12 132330418 C CA 480 PASS MMP17 CCDS31927.1 r.? - - Ins intronic I 132330418 132330424 1 21 426.086 - - 5 1 1 MMP17|CCDS31927.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MMP17|CCDS31927.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 14 6 14 0 0 ./. 6 2 9 4 26 30 26 30 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759914125 12 132860898 G GCA 300 PASS GALNT9 CCDS41866.1 r.? - - Ins intronic I 132860898 132860914 2 12 261.412 - - 7 1 - GALNT9|CCDS41866.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GALNT9|CCDS41866.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 2 4 2 32 21 33 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759914216 12 133118031 CG C 420 PASS FBRSL1 CCDS45010.1 r.? - - Del intronic D 133118031 133118036 1 20 373.201 - - 4 1 1 FBRSL1|CCDS45010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBRSL1|CCDS45010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 3 4 3 29 18 29 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759914218 12 133123293 AC A 269 PASS FBRSL1 CCDS45010.1 r.? - - Del intronic D 133123293 133123302 1 12 270.443 - - 8 1 1 FBRSL1|CCDS45010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBRSL1|CCDS45010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 3 3 4 22 13 22 13 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759914441 12 133607196 G GT 360 PASS AC073911.3 ENST00000443154 r.? - - Ins downstream I 133607196 133607204 1 15 320.919 - - 7 1 1 AC073911.3|ENST00000443154|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 AC073911.3|ENST00000443154|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 ./. 0 0 0 0 12 5 12 5 0 0 ./. 4 2 7 4 36 44 36 44 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759914454 12 133620726 CT C 480 PASS ZNF84 CCDS31940.1 r.? - - Del intronic D 133620726 133620736 1 21 432.106 - - 9 1 1 ZNF84|CCDS31940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF84|CCDS31940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 6 2 7 2 18 21 18 21 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759914696 13 19461266 A AT 420 PASS - - - - - Ins - I 19461266 19461274 1 20 375.415 - - 7 1 1 - - ./. 0 0 0 0 16 11 17 11 0 0 ./. 4 3 5 5 22 26 22 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759914729 13 19531854 G GCA 269 PASS - - - - - Ins - I 19531854 19531866 2 12 261.531 - - 5 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 4 3 34 29 34 30 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759914775 13 19631146 TG T 300 PASS - - - - - Del - D 19631146 19631152 1 12 271.164 - - 5 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 3 5 4 28 22 28 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759914803 13 19649945 AG A 420 PASS - - - - - Del - D 19649945 19649949 1 20 376.017 - - 3 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 3 4 4 6 57 46 57 46 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759915106 13 20219116 AT A 300 PASS MPHOSPH8 CCDS9287.1 r.? - - Del intronic D 20219116 20219126 1 10 265.144 - - 9 1 1 MPHOSPH8|CCDS9287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MPHOSPH8|CCDS9287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 4 1 5 2 25 17 25 17 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759915180 13 20359546 CT C 360 PASS PSPC1 CCDS41870.1 r.? - - Del upstream D 20359546 20359550 1 16 325.397 - - 3 1 1 PSPC1|CCDS41870.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PSPC1|CCDS41870.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 4 4 25 28 25 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759915834 13 21696377 CA C 329 PASS - - - - - Del - D 21696377 21696387 1 15 324.193 - - 9 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 4 4 4 13 25 13 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759915982 13 22061714 A AT 300 PASS - - - - - Ins - I 22061714 22061721 1 10 262.735 - - 6 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 4 1 26 14 26 14 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759916192 13 22564441 GT G 300 PASS - - - - - Del - D 22564441 22564449 1 12 271.164 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 3 4 9 16 9 16 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759916278 13 22824162 TA T 600 PASS AL137248.1 ENST00000413646 r.? - - Del intronic D 22824162 22824168 1 35 538.114 - - 5 1 1 AL137248.1|ENST00000413646|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL137248.1|ENST00000413646|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 6 4 7 5 35 26 35 26 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759916300 13 22878959 CA C 300 PASS - - - - - Del - D 22878959 22878969 1 12 269.96 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 5 4 27 35 27 35 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759916326 13 22953095 GA G 509 PASS - - - - - Del - D 22953095 22953103 1 28 486.891 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 3 7 3 30 20 30 20 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759916397 13 23159135 GT G 480 PASS - - - - - Del - D 23159135 23159141 1 16 433.863 - - 5 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 7 2 10 31 37 31 37 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759916641 13 23665136 CT C 360 PASS - - - - - Del - D 23665136 23665146 1 15 325.397 - - 9 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 4 2 5 2 28 27 28 27 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759916840 13 24129030 GGA G 360 PASS - - - - - Del - D 24129030 24129033 2 16 325.397 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 4 5 32 24 32 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759916955 13 24450142 GT G 360 PASS MIPEP CCDS9303.1 r.? - - Del intronic D 24450142 24450148 1 12 325.397 - - 5 1 1 MIPEP|CCDS9303.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIPEP|CCDS9303.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 1 5 1 22 4 22 4 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759916958 13 24475300 CA C 420 PASS ENSG00000205863 CCDS31947.1 r.? - - Del upstream D 24475300 24475310 1 18 379.63 - - 9 1 1 ENSG00000205863|CCDS31947.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000205863|CCDS31947.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 5 4 6 30 19 30 19 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759917273 13 25241319 TAGG T 420 PASS - - - - - Del - D 25241319 25241328 3 20 379.028 - - 2 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 4 5 4 32 21 32 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759917471 13 25610392 G GA 360 PASS - - - - - Ins - I 25610392 25610401 1 16 321.785 - - 8 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 3 3 5 23 34 23 34 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759917619 13 26018460 CT C 420 PASS ATP8A2 CCDS41873.1 r.? - - Del intronic D 26018460 26018470 1 20 379.63 - - 9 1 1 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 4 3 5 3 26 23 26 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759917661 13 26094494 A AT 300 PASS ATP8A2 CCDS41873.1 r.? - - Ins intronic I 26094494 26094501 1 10 266.348 - - 6 1 1 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 4 1 4 15 29 15 29 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759917701 13 26193668 TA T 360 PASS ATP8A2 CCDS41873.1 r.? - - Del intronic D 26193668 26193676 1 16 325.397 - - 7 1 1 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 3 4 4 20 25 20 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759917798 13 26461968 G GT 360 PASS ATP8A2 CCDS41873.1 r.? - - Ins intronic I 26461968 26461978 1 16 321.785 - - 9 1 1 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 14 5 14 0 0 ./. 3 3 4 5 25 26 25 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759917813 13 26508965 GA G 420 PASS ATP8A2 CCDS41873.1 r.? - - Del intronic D 26508965 26508974 1 14 379.63 - - 8 1 1 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 1 6 2 8 26 25 26 25 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759917839 13 26593943 CA C 360 PASS ATP8A2 CCDS41873.1 r.? - - Del intronic D 26593943 26593952 1 12 322.387 - - 8 1 1 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 1 5 4 7 28 31 28 31 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918000 13 27085913 CT C 300 PASS - - - - - Del - D 27085913 27085923 1 12 270.562 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 2 3 4 24 30 24 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918018 13 27152152 CT C 540 PASS WASF3 CCDS9318.1 r.? - - Del intronic D 27152152 27152161 1 24 488.095 - - 8 1 1 WASF3|CCDS9318.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 WASF3|CCDS9318.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 7 2 7 13 24 13 24 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918029 13 27185401 AT A 360 PASS WASF3 CCDS9318.1 r.? - - Del intronic D 27185401 27185407 1 12 325.397 - - 5 1 1 WASF3|CCDS9318.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 WASF3|CCDS9318.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 1 5 3 8 25 25 25 25 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918157 13 27490466 GT G 360 PASS - - - - - Del - D 27490466 27490476 1 12 325.397 - - 9 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 1 5 2 6 28 29 28 29 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918158 13 27496441 CG C 600 PASS - - - - - Del - D 27496441 27496443 1 36 542.328 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 5 6 5 30 19 30 19 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918160 13 27499806 TA T 389 PASS - - - - - Del - D 27499806 27499816 1 18 379.63 - - 9 1 - - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 5 3 8 22 32 22 32 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918211 13 27623620 A AT 300 PASS - - - - - Ins - I 27623620 27623629 1 12 268.154 - - 8 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 3 5 3 31 31 32 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918250 13 27716085 CA C 300 PASS USP12 CCDS31952.1 r.? - - Del intronic D 27716085 27716095 1 12 271.164 - - 9 1 1 USP12|CCDS31952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP12|CCDS31952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 4 4 21 35 21 35 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918506 13 28434945 AT A 480 PASS AL390738.2 ENST00000499662 r.? - - Del intronic D 28434945 28434951 1 21 433.863 - - 5 1 1 AL390738.2|ENST00000499662|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL390738.2|ENST00000499662|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 6 4 6 21 25 21 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918545 13 28502374 TG T 360 PASS PDX1 CCDS9327.1 r.? - - Del downstream D 28502374 28502380 1 15 325.397 - - 5 1 1 PDX1|CCDS9327.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PDX1|CCDS9327.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 5 12 5 0 0 ./. 2 4 2 4 24 33 24 33 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918567 13 28548805 AC A 389 PASS PRHOXNB CCDS45020.1 r.? - - Del downstream D 28548805 28548811 1 18 379.63 - - 5 1 1 PRHOXNB|CCDS45020.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PRHOXNB|CCDS45020.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 5 4 6 25 26 25 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918766 13 28945013 CT C 420 PASS FLT1 CCDS9330.1 r.? - - Del intronic D 28945013 28945021 1 20 379.63 - - 7 1 1 FLT1|CCDS9330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FLT1|CCDS9330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 4 4 4 22 21 22 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918946 13 29473555 CT C 300 PASS - - - - - Del - D 29473555 29473565 1 12 271.164 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 3 3 5 21 32 21 32 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759918948 13 29489057 CT C 480 PASS - - - - - Del - D 29489057 29489066 1 16 431.454 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 7 1 9 1 28 11 28 11 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919082 13 29864248 GA G 295 PASS MTUS2 CCDS45022.1 r.? - - Del intronic D 29864248 29864254 1 10 271.164 - - 5 1 1 MTUS2|CCDS45022.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTUS2|CCDS45022.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 4 3 5 30 25 30 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919096 13 29904336 CT C 415 PASS MTUS2 CCDS45022.1 r.? - - Del intronic D 29904336 29904344 1 20 379.63 - - 7 1 1 MTUS2|CCDS45022.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTUS2|CCDS45022.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 4 5 7 33 23 33 23 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919183 13 30115414 TA T 269 PASS SLC7A1 CCDS9333.1 r.? - - Del intronic D 30115414 30115422 1 12 267.552 - - 7 1 1 SLC7A1|CCDS9333.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC7A1|CCDS9333.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 4 3 33 18 33 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919205 13 30202417 C CA 300 PASS - - - - - Ins - I 30202417 30202425 1 12 268.154 - - 7 1 1 - - ./. 0 0 0 0 14 14 15 14 0 0 ./. 2 3 2 3 20 21 20 21 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919212 13 30227904 CA C 360 PASS - - - - - Del - D 30227904 30227912 1 15 325.397 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 2 6 2 28 22 28 22 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919374 13 30777686 A AT 360 PASS KATNAL1 CCDS31956.1 r.6631_6632insa c.? p.? Ins 3'UTR variant I 30777686 30777694 1 7 321.785 - - 7 1 1 KATNAL1|CCDS31956.1|r.6631_6632insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 KATNAL1|CCDS31956.1|r.6631_6632insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 15 14 16 15 0 0 ./. 0 6 0 7 1 30 1 30 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919539 13 31091119 TA T 420 PASS HMGB1 CCDS9335.1 r.? - - Del intronic D 31091119 31091128 1 20 379.63 - - 8 1 1 HMGB1|CCDS9335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HMGB1|CCDS9335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 4 3 5 4 28 19 28 19 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919565 13 31163052 TA T 360 PASS HMGB1 CCDS9335.1 r.? - - Del intronic D 31163052 31163062 1 15 324.193 - - 9 1 1 HMGB1|CCDS9335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HMGB1|CCDS9335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 23 10 23 0 0 ./. 4 2 4 4 26 23 26 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919676 13 31503766 GT G 420 PASS C13orf33 CCDS9338.1 r.? - - Del downstream D 31503766 31503772 1 20 377.221 - - 5 1 1 C13orf33|CCDS9338.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C13orf26|CCDS9339.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 5 17 5 0 0 ./. 4 3 6 4 31 22 31 22 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919722 13 31639368 C CA 420 PASS - - - - - Ins - I 31639368 31639375 1 20 375.415 - - 6 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 3 5 4 22 23 22 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919727 13 31651337 TCAAA T 269 PASS - - - - - Del - D 31651337 31651345 4 10 271.164 - - 1 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 1 4 2 27 25 27 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919902 13 32248161 CA C 420 PASS - - - - - Del - D 32248161 32248169 1 14 379.63 - - 7 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 1 6 1 22 23 22 23 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759919916 13 32285483 A AT 360 PASS - - - - - Ins - I 32285483 32285493 1 15 321.785 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 4 6 6 30 42 30 42 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759920041 13 32569761 TG T 360 PASS - - - - - Del - D 32569761 32569769 1 15 325.397 - - 7 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 4 3 7 16 26 16 26 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759920045 13 32576849 AT A 300 PASS - - - - - Del - D 32576849 32576858 1 6 271.164 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 0 5 0 24 5 24 5 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759920308 13 33320005 AT A 300 PASS PDS5B CCDS41878.1 r.? - - Del intronic D 33320005 33320015 1 12 271.164 - - 9 1 1 PDS5B|CCDS41878.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDS5B|CCDS41878.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 4 3 33 16 33 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759920523 13 34076001 CT C 420 PASS - - - - - Del - D 34076001 34076011 1 20 379.63 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 4 3 4 26 22 26 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759920537 13 34107001 CA C 420 PASS - - - - - Del - D 34107001 34107006 1 20 379.63 - - 4 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 4 3 5 32 32 32 32 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759920603 13 34369348 GA G 300 PASS - - - - - Del - D 34369348 34369357 1 10 271.164 - - 8 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 1 5 2 22 19 22 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759920959 13 35552864 CT C 300 PASS NBEA CCDS45026.1 r.? - - Del intronic D 35552864 35552869 1 12 271.164 - - 4 1 1 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 3 6 19 16 19 16 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759920971 13 35601283 CT C 420 PASS NBEA CCDS45026.1 r.? - - Del intronic D 35601283 35601289 1 14 379.63 - - 5 1 1 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 6 1 8 1 22 8 22 8 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759920986 13 35693009 TC T 300 PASS NBEA CCDS45026.1 r.? - - Del intronic D 35693009 35693011 1 10 268.154 - - 1 1 1 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 4 2 5 6 20 6 20 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921075 13 36182329 CT C 480 PASS NBEA CCDS45026.1 r.? - - Del intronic D 36182329 36182339 1 25 433.863 - - 9 1 1 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 4 4 4 5 15 30 15 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921116 13 36299577 CA C 360 PASS - - - - - Del - D 36299577 36299586 1 15 325.397 - - 8 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 4 2 6 18 28 18 28 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921132 13 36350445 T TA 540 PASS DCLK1 CCDS9354.1 r.? - - Ins intronic I 36350445 36350454 1 30 481.473 - - 8 1 1 DCLK1|CCDS9354.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DCLK1|CCDS9354.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 21 17 22 0 0 ./. 5 4 6 5 29 36 30 37 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921142 13 36382548 TC T 300 PASS DCLK1 CCDS9354.1 r.? - - Del intronic D 36382548 36382555 1 12 271.164 - - 6 1 1 DCLK1|CCDS9354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCLK1|CCDS9354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 2 3 3 3 22 28 22 28 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921276 13 36849343 CA C 420 PASS C13orf38 CCDS45027.1 r.? - - Del intronic D 36849343 36849353 1 20 373.609 - - 9 1 1 C13orf38|CCDS45027.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C13orf38|CCDS45027.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 4 4 6 23 20 23 20 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921303 13 36966003 GT G 420 PASS - - - - - Del - D 36966003 36966013 1 18 374.813 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 5 4 7 22 29 22 29 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921306 13 36973944 G GT 360 PASS - - - - - Ins - I 36973944 36973951 1 15 321.785 - - 6 1 - - - ./. 0 0 0 0 8 10 9 10 0 0 ./. 2 4 4 4 29 39 29 39 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921357 13 37200240 A AT 360 PASS - - - - - Ins - I 37200240 37200249 1 15 321.183 - - 8 1 1 - - ./. 0 0 0 0 16 6 16 7 0 0 ./. 2 4 3 5 26 38 27 38 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921359 13 37209831 CA C 360 PASS - - - - - Del - D 37209831 37209841 1 12 323.591 - - 9 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 1 5 1 6 23 19 23 19 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921407 13 37403353 G GT 660 PASS RFXAP CCDS9359.1 r.? - - Ins downstream I 37403353 37403361 1 40 589.336 - - 7 1 1 RFXAP|CCDS9359.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 RFXAP|CCDS9359.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 6 13 7 13 0 0 ./. 7 4 9 8 39 25 39 25 9 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921545 13 37782773 AGAT A 449 PASS - - - - - Del - D 37782773 37782780 3 24 433.863 - - 2 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 3 7 3 27 24 27 24 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921647 13 38089340 AT A 480 PASS - - - - - Del - D 38089340 38089350 1 24 433.863 - - 9 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 5 3 6 20 32 20 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921707 13 38236284 TA T 300 PASS TRPC4 CCDS45037.1 r.? - - Del intronic D 38236284 38236290 1 12 269.358 - - 5 1 1 TRPC4|CCDS45037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPC4|CCDS45037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 4 13 4 0 0 ./. 3 2 4 2 20 25 20 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759921809 13 38554170 GA G 360 PASS - - - - - Del - D 38554170 38554179 1 15 325.397 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 4 3 4 31 20 31 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759922006 13 39128832 GT G 360 PASS - - - - - Del - D 39128832 39128841 1 15 325.397 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 4 4 6 24 23 24 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759922059 13 39340342 CT C 540 PASS FREM2 CCDS31960.1 r.? - - Del intronic D 39340342 39340352 1 28 486.289 - - 9 1 1 FREM2|CCDS31960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FREM2|CCDS31960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 3 7 3 21 27 21 27 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759922063 13 39379476 GA G 300 PASS FREM2 CCDS31960.1 r.? - - Del intronic D 39379476 39379485 1 6 271.164 - - 8 1 1 FREM2|CCDS31960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FREM2|CCDS31960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 0 5 2 6 12 33 12 33 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759922286 13 40109617 TA T 300 PASS LHFP CCDS9369.1 r.? - - Del intronic D 40109617 40109626 1 12 271.164 - - 8 1 1 LHFP|CCDS9369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHFP|CCDS9369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 6 2 18 23 18 23 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759922378 13 40318876 GA G 327 PASS COG6 CCDS45042.1 r.? - - Del intronic D 40318876 40318885 1 15 325.397 - - 8 1 1 COG6|CCDS45042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COG6|CCDS45042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 4 2 5 24 30 24 30 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759922562 13 40949466 CT C 269 PASS - - - - - Del - D 40949466 40949474 1 12 259.725 - - 7 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 3 4 4 23 21 23 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759922593 13 41055249 AC A 360 PASS - - - - - Del - D 41055249 41055256 1 12 324.193 - - 6 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 1 5 3 6 22 24 22 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759922679 13 41370733 C CT 300 PASS SLC25A15 CCDS9373.1 r.? - - Ins intronic I 41370733 41370740 1 10 268.154 - - 6 1 1 SLC25A15|CCDS9373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC25A15|CCDS9373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 16 8 17 0 0 ./. 4 1 6 2 31 31 31 32 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759922825 13 41729595 C CA 360 PASS AL354696.6 ENST00000499512 r.? - - Ins intronic I 41729595 41729604 1 16 315.162 - - 8 1 1 AL354696.6|ENST00000499512|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL354696.6|ENST00000499512|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 3 3 3 3 20 26 20 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759922981 13 42067254 G GT 420 PASS - - - - - Ins - I 42067254 42067264 1 20 358.558 - - 9 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 3 4 3 30 39 30 39 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923017 13 42189283 GA G 480 PASS KIAA0564 CCDS41881.1 r.? - - Del intronic D 42189283 42189293 1 25 432.658 - - 9 1 1 KIAA0564|CCDS41881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0564|CCDS41881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 4 4 6 4 29 21 29 21 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923075 13 42400837 C CA 300 PASS KIAA0564 CCDS41881.1 r.? - - Ins intronic I 42400837 42400847 1 12 268.154 - - 9 1 1 KIAA0564|CCDS41881.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA0564|CCDS41881.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 5 3 24 16 24 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923152 13 42618423 CT C 300 PASS DGKH CCDS9381.1 r.? - - Del upstream D 42618423 42618432 1 10 266.348 - - 8 1 1 DGKH|CCDS9381.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 DGKH|CCDS9381.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 14 16 14 0 0 ./. 1 4 2 8 21 24 21 24 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923186 13 42707140 TA T 277 PASS DGKH CCDS9381.1 r.? - - Del intronic D 42707140 42707149 1 10 268.756 - - 8 1 1 DGKH|CCDS9381.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DGKH|CCDS9381.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 4 2 5 3 33 3 33 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923283 13 43051548 TA T 600 PASS - - - - - Del - D 43051548 43051558 1 35 540.522 - - 9 1 1 - - ./. 0 0 0 0 27 6 27 6 0 0 ./. 6 4 7 8 45 36 45 36 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923372 13 43350058 AC A 420 PASS - - - - - Del - D 43350058 43350066 1 18 377.824 - - 7 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 5 3 6 31 34 31 34 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923525 13 43830687 GA G 360 PASS ENOX1 CCDS9389.1 r.? - - Del intronic D 43830687 43830697 1 15 325.397 - - 9 1 1 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 2 4 2 4 23 14 23 14 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923553 13 43914446 TC T 300 PASS ENOX1 CCDS9389.1 r.? - - Del intronic D 43914446 43914452 1 12 271.164 - - 5 1 1 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 3 3 20 30 20 30 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923654 13 44228005 GA G 360 PASS ENOX1 CCDS9389.1 r.? - - Del intronic D 44228005 44228015 1 15 323.591 - - 9 1 1 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 2 4 2 36 22 36 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923660 13 44256750 CA C 420 PASS ENOX1 CCDS9389.1 r.? - - Del intronic D 44256750 44256759 1 20 379.63 - - 8 1 1 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 3 7 6 29 20 29 20 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923773 13 44532706 TCA T 300 PASS - - - - - Del - D 44532706 44532723 2 12 271.164 - - 8 1 - - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 3 4 24 24 24 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923906 13 45026781 GC G 600 PASS TSC22D1 CCDS31966.1 r.? - - Del intronic D 45026781 45026789 1 35 541.124 - - 7 1 1 TSC22D1|CCDS31966.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSC22D1|CCDS31966.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 9 20 9 0 0 ./. 4 6 5 7 29 19 29 19 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759923933 13 45112557 C CA 420 PASS TSC22D1 CCDS31966.1 r.? - - Ins intronic I 45112557 45112566 1 20 375.415 - - 8 1 1 TSC22D1|CCDS31966.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TSC22D1|CCDS31966.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 3 5 4 28 23 28 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924018 13 45444308 CT C 540 PASS - - - - - Del - D 45444308 45444316 1 28 488.095 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 3 8 5 31 27 31 27 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924046 13 45528479 TC T 480 PASS NUFIP1 CCDS9393.1 r.? - - Del intronic D 45528479 45528487 1 25 432.056 - - 7 1 1 NUFIP1|CCDS9393.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUFIP1|CCDS9393.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 4 7 6 22 34 22 34 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924061 13 45569478 CT C 329 PASS KIAA1704 CCDS9394.1 r.? - - Del intronic D 45569478 45569488 1 15 325.397 - - 9 1 1 KIAA1704|CCDS9394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1704|CCDS9394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 2 5 2 26 21 26 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924078 13 45611894 ATTTC A 360 PASS KIAA1704 CCDS9394.1 r.? - - Del downstream D 45611894 45611904 4 15 325.397 - - 2 1 1 KIAA1704|CCDS9394.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KIAA1704|CCDS9394.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 2 5 2 32 15 32 15 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924098 13 45653816 CTTA C 329 PASS - - - - - Del - D 45653816 45653823 3 12 325.397 - - 2 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 1 5 2 6 19 30 19 30 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924142 13 45750858 CT C 360 PASS GTF2F2 CCDS9395.1 r.? - - Del intronic D 45750858 45750865 1 15 325.397 - - 6 1 1 GTF2F2|CCDS9395.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GTF2F2|CCDS9395.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 22 8 22 0 0 ./. 4 2 6 3 24 25 24 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924535 13 47010516 CA C 579 PASS C13orf18 ENST00000409879 r.? - - Del intronic D 47010516 47010525 1 49 650.794 - - 8 1 1 C13orf18|ENST00000409879|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C13orf18|ENST00000409879|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 6 6 6 30 26 30 26 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924549 13 47058950 A AT 300 PASS - - - - - Ins - I 47058950 47058958 1 10 268.154 - - 7 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 1 5 5 30 31 30 31 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924665 13 47315042 A AC 480 PASS LRCH1 CCDS31972.1 r.? - - Ins intronic I 47315042 47315050 1 24 429.046 - - 7 1 1 LRCH1|CCDS31972.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRCH1|CCDS31972.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 5 3 5 4 19 28 19 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924739 13 47532243 TA T 360 PASS - - - - - Del - D 47532243 47532252 1 15 317.57 - - 8 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 4 2 7 3 29 19 29 19 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924744 13 47542436 AT A 300 PASS - - - - - Del - D 47542436 47542446 1 10 271.164 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 1 4 2 8 19 31 19 31 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924906 13 48098934 AT A 300 PASS - - - - - Del - D 48098934 48098944 1 6 271.164 - - 9 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 0 5 3 6 24 35 24 35 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759924992 13 48364920 GA G 389 PASS - - - - - Del - D 48364920 48364927 1 20 379.028 - - 6 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 3 6 5 27 30 27 30 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759925036 13 48485606 CA C 360 PASS - - - - - Del - D 48485606 48485614 1 16 325.397 - - 7 1 1 - - ./. 0 0 0 0 22 10 22 10 0 0 ./. 3 3 6 3 22 20 22 20 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759925047 13 48505995 C CT 300 PASS - - - - - Ins - I 48505995 48506005 1 10 265.746 - - 9 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 1 4 3 33 25 33 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759925270 13 49335683 GT G 900 PASS - - - - - Del - D 49335683 49335691 1 72 808.676 - - 7 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 7 8 8 10 30 24 30 24 8 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759925276 13 49382504 TA T 420 PASS - - - - - Del - D 49382504 49382512 1 18 379.63 - - 7 1 1 - - ./. 0 0 0 0 10 3 10 3 0 0 ./. 5 2 5 5 24 12 24 12 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759925355 13 49683045 TG T 360 PASS FNDC3A CCDS9413.2 r.? - - Del upstream D 49683045 49683050 1 12 325.397 - - 4 1 1 FNDC3A|CCDS9413.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 FNDC3A|CCDS41886.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 5 2 5 13 24 13 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759925482 13 50056659 GT G 360 PASS SETDB2 CCDS9417.1 r.? - - Del intronic D 50056659 50056669 1 15 325.397 - - 9 1 1 SETDB2|CCDS9417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SETDB2|CCDS9417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 4 2 4 15 22 15 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759925590 13 50263492 CT C 418 PASS EBPL CCDS9420.1 r.? - - Del intronic D 50263492 50263501 1 24 433.863 - - 8 1 1 EBPL|CCDS9420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EBPL|CCDS9420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 3 7 4 27 21 27 21 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759925718 13 50505307 ATTTTC A 300 PASS C13orf1 CCDS45046.1 r.? - - Del intronic D 50505307 50505332 5 10 271.164 - - 4 1 - C13orf1|CCDS45046.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C13orf1|CCDS45046.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 1 4 1 5 15 26 15 26 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759925819 13 50718569 CT C 300 PASS - - - - - Del - D 50718569 50718577 1 10 271.164 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 4 2 6 12 29 12 29 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759925947 13 51156815 CT C 360 PASS - - - - - Del - D 51156815 51156824 1 15 325.397 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 2 6 3 27 22 27 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759925973 13 51266917 G GT 300 PASS - - - - - Ins - I 51266917 51266925 1 10 268.154 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 12 0 0 ./. 1 4 2 5 28 19 29 20 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759926023 13 51427913 A AT 300 PASS - - - - - Ins - I 51427913 51427923 1 10 266.95 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 18 0 0 ./. 4 1 6 2 28 13 29 13 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759926054 13 51543779 AC A 300 PASS RNASEH2B CCDS45047.1 r.? - - Del intronic D 51543779 51543784 1 10 271.164 - - 4 1 1 RNASEH2B|CCDS45047.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNASEH2B|CCDS45047.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 3 14 3 0 0 ./. 4 1 5 2 30 19 30 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759926393 13 52991503 C CT 600 PASS VPS36 CCDS9434.1 r.? - - Ins intronic I 52991503 52991513 1 32 533.297 - - 9 1 1 VPS36|CCDS9434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS36|CCDS9434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 11 0 0 ./. 3 7 3 11 26 34 27 34 3 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759926406 13 53037613 TA T 480 PASS CKAP2 CCDS9435.1 r.? - - Del intronic D 53037613 53037621 1 24 433.863 - - 7 1 1 CKAP2|CCDS9435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CKAP2|CCDS9435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 5 3 6 33 19 33 19 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759926534 13 53430937 GA G 480 PASS - - - - - Del - D 53430937 53430947 1 24 428.444 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 5 3 6 22 31 22 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759926537 13 53440477 GA G 329 PASS - - - - - Del - D 53440477 53440487 1 16 320.58 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 3 4 5 33 29 33 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759926590 13 53580651 TC T 300 PASS - - - - - Del - D 53580651 53580653 1 12 271.164 - - 1 1 - - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 2 3 3 25 37 25 37 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759926598 13 53618615 AT A 420 PASS OLFM4 CCDS9440.1 r.? - - Del intronic D 53618615 53618622 1 20 375.415 - - 6 1 1 OLFM4|CCDS9440.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OLFM4|CCDS9440.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 3 5 3 33 32 33 32 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759926638 13 53898549 GT G 480 PASS - - - - - Del - D 53898549 53898555 1 21 433.863 - - 5 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 6 2 8 3 36 27 36 27 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759926677 13 54074840 CT C 360 PASS - - - - - Del - D 54074840 54074849 1 16 325.397 - - 8 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 3 4 3 31 20 31 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759926760 13 54452163 CT C 420 PASS - - - - - Del - D 54452163 54452172 1 18 378.426 - - 8 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 2 6 4 20 28 20 28 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927006 13 55342072 C CA 420 PASS - - - - - Ins - I 55342072 55342082 1 18 365.782 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 2 6 2 33 35 33 35 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927012 13 55380548 CT C 300 PASS - - - - - Del - D 55380548 55380557 1 10 269.96 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 1 4 1 7 8 35 8 35 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927026 13 55437027 GA G 540 PASS - - - - - Del - D 55437027 55437029 1 30 488.095 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 5 6 6 34 32 34 32 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927045 13 55512069 CGTT C 298 PASS - - - - - Del - D 55512069 55512075 3 15 325.397 - - 1 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 2 4 3 32 22 32 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927064 13 55554835 AT A 300 PASS - - - - - Del - D 55554835 55554844 1 12 271.164 - - 8 1 1 - - ./. 0 0 0 0 11 3 11 3 0 0 ./. 2 3 2 4 13 17 13 17 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927238 13 55992698 GA G 360 PASS - - - - - Del - D 55992698 55992708 1 15 325.397 - - 9 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 4 3 6 15 29 15 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927257 13 56054000 GT G 300 PASS - - - - - Del - D 56054000 56054009 1 10 269.358 - - 8 1 1 - - ./. 0 0 0 0 15 5 15 5 0 0 ./. 1 4 1 5 8 32 8 32 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927353 13 56367725 CT C 300 PASS - - - - - Del - D 56367725 56367735 1 6 271.164 - - 9 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 5 0 6 2 21 12 21 12 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927477 13 56916771 C CT 360 PASS - - - - - Ins - I 56916771 56916779 1 16 321.785 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 3 4 4 31 32 32 32 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927497 13 56981747 CA C 300 PASS - - - - - Del - D 56981747 56981753 1 12 271.164 - - 5 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 3 2 3 3 12 18 12 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927641 13 57855833 GA G 480 PASS - - - - - Del - D 57855833 57855839 1 24 433.863 - - 5 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 5 3 6 4 31 24 31 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927822 13 58573331 CT C 300 PASS - - - - - Del - D 58573331 58573339 1 10 268.756 - - 7 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 1 4 1 4 32 32 32 32 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927931 13 59064704 AT A 269 PASS - - - - - Del - D 59064704 59064713 1 12 269.96 - - 8 1 1 - - ./. 0 0 0 0 25 9 25 9 0 0 ./. 3 2 5 3 25 17 25 17 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759927982 13 59158817 TC T 540 PASS - - - - - Del - D 59158817 59158822 1 24 488.095 - - 4 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 7 2 10 2 31 6 31 6 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759928047 13 59309681 TA T 540 PASS - - - - - Del - D 59309681 59309688 1 28 488.095 - - 6 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 3 8 4 32 25 32 25 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759928049 13 59325961 AT A 300 PASS - - - - - Del - D 59325961 59325970 1 12 269.96 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 3 2 23 24 23 24 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759928220 13 59916686 G GA 360 PASS - - - - - Ins - I 59916686 59916696 1 16 321.785 - - 9 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 3 7 3 25 22 25 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759928265 13 60021256 G GA 300 PASS - - - - - Ins - I 60021256 60021264 1 10 268.154 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 4 3 6 14 26 14 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759928394 13 60365876 TC T 420 PASS DIAPH3 CCDS41898.1 r.? - - Del intronic D 60365876 60365881 1 14 379.63 - - 4 1 1 DIAPH3|CCDS41898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIAPH3|CCDS41898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 1 7 1 25 18 25 18 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759928438 13 60548324 G GA 300 PASS DIAPH3 CCDS41898.1 r.? - - Ins intronic I 60548324 60548332 1 12 268.154 - - 7 1 1 DIAPH3|CCDS41898.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DIAPH3|CCDS41898.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 3 2 3 14 21 14 21 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759928471 13 60747597 GTCC G 300 PASS - - - - - Del - D 60747597 60747606 3 12 271.164 - - 2 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 2 3 4 11 11 11 11 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759928640 13 61266080 TA T 269 PASS - - - - - Del - D 61266080 61266089 1 10 271.164 - - 8 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 1 6 2 27 30 27 30 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759928816 13 61754549 CA C 600 PASS - - - - - Del - D 61754549 61754558 1 35 542.328 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 6 8 9 31 34 31 34 8 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759928933 13 62153347 GT G 300 PASS - - - - - Del - D 62153347 62153355 1 6 271.164 - - 7 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 0 5 0 20 0 20 0 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759928996 13 62382452 GA G 396 PASS - - - - - Del - D 62382452 62382462 1 20 379.63 - - 9 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 4 3 5 32 22 32 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759929280 13 63540799 CT C 300 PASS - - - - - Del - D 63540799 63540809 1 12 271.164 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 3 3 8 16 8 16 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759929917 13 65060249 CA C 420 PASS - - - - - Del - D 65060249 65060257 1 20 378.426 - - 7 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 3 5 4 17 42 17 42 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759929944 13 65239780 GA G 300 PASS - - - - - Del - D 65239780 65239790 1 10 271.164 - - 9 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 1 4 1 7 24 27 24 27 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930169 13 66162493 CA C 312 PASS - - - - - Del - D 66162493 66162501 1 18 379.63 - - 7 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 5 5 7 29 20 29 20 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930220 13 66335471 CA C 360 PASS - - - - - Del - D 66335471 66335480 1 12 325.397 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 1 5 1 19 11 19 11 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930334 13 66763541 TA T 540 PASS - - - - - Del - D 66763541 66763549 1 30 485.085 - - 7 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 4 5 4 31 27 31 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930338 13 66769580 AT A 329 PASS - - - - - Del - D 66769580 66769588 1 16 325.397 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 3 4 3 21 18 21 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930351 13 66795546 TA T 360 PASS - - - - - Del - D 66795546 66795554 1 16 325.397 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 3 3 4 17 17 17 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930530 13 67440209 GA G 420 PASS PCDH9 CCDS9443.1 r.? - - Del intronic D 67440209 67440217 1 20 379.63 - - 7 1 1 PCDH9|CCDS9443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH9|CCDS9443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 3 5 3 27 26 27 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930534 13 67457780 TA T 300 PASS PCDH9 CCDS9443.1 r.? - - Del intronic D 67457780 67457788 1 10 271.164 - - 7 1 1 PCDH9|CCDS9443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH9|CCDS9443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 1 4 1 21 25 21 25 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930581 13 67597366 CA C 360 PASS PCDH9 CCDS9443.1 r.? - - Del intronic D 67597366 67597372 1 15 325.397 - - 5 1 1 PCDH9|CCDS9443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH9|CCDS9443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 4 2 6 2 36 14 36 14 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930674 13 67924977 GT G 298 PASS - - - - - Del - D 67924977 67924985 1 15 325.397 - - 7 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 2 4 4 8 33 25 33 25 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930685 13 67960228 GT G 420 PASS - - - - - Del - D 67960228 67960231 1 18 379.63 - - 2 1 1 - - ./. 0 0 0 0 2 11 2 11 0 0 ./. 5 2 6 3 28 28 28 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930691 13 67995505 GA G 300 PASS - - - - - Del - D 67995505 67995514 1 12 271.164 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 3 3 22 14 22 14 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930762 13 68204165 GT G 300 PASS - - - - - Del - D 68204165 68204175 1 12 270.562 - - 9 1 1 - - ./. 0 0 0 0 11 23 11 23 0 0 ./. 3 2 3 2 20 25 20 25 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930767 13 68241536 CT C 420 PASS - - - - - Del - D 68241536 68241546 1 18 379.63 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 5 2 5 25 25 25 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930855 13 68700152 AT A 420 PASS - - - - - Del - D 68700152 68700161 1 8 378.426 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 7 0 8 0 26 7 26 7 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759930921 13 68989089 AT A 300 PASS - - - - - Del - D 68989089 68989099 1 6 271.164 - - 9 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 0 8 1 27 25 27 25 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759931047 13 69484870 T TA 360 PASS - - - - - Ins - I 69484870 69484879 1 15 321.785 - - 8 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 4 4 4 25 14 25 14 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759931051 13 69502127 TAC T 480 PASS - - - - - Del - D 69502127 69502131 2 25 433.863 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 4 5 5 20 19 20 19 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759931345 13 70414364 AT A 300 PASS KLHL1 CCDS9445.1 r.? - - Del intronic D 70414364 70414374 1 10 271.164 - - 9 1 1 KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 4 1 5 1 26 12 26 12 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759931424 13 70607592 GT G 300 PASS KLHL1 CCDS9445.1 r.? - - Del intronic D 70607592 70607600 1 10 271.164 - - 7 1 1 KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 1 4 3 14 15 14 15 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759931707 13 71336128 A AT 284 PASS - - - - - Ins - I 71336128 71336137 1 24 420.617 - - 8 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 5 3 6 3 30 22 30 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759931809 13 71645926 AT A 360 PASS - - - - - Del - D 71645926 71645934 1 15 325.397 - - 7 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 2 5 3 22 14 22 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759931890 13 71923442 TA T 420 PASS - - - - - Del - D 71923442 71923452 1 20 378.426 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 4 3 5 12 21 12 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759931900 13 71958148 CT C 480 PASS - - - - - Del - D 71958148 71958157 1 24 433.261 - - 8 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 5 4 5 28 20 28 20 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759931952 13 72146839 AT A 300 PASS DACH1 ENST00000305425 r.? - - Del intronic D 72146839 72146848 1 10 271.164 - - 8 1 1 DACH1|ENST00000305425|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DACH1|ENST00000305425|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 1 4 1 27 10 27 10 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932092 13 72693710 AT A 420 PASS - - - - - Del - D 72693710 72693720 1 14 379.63 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 6 1 6 1 24 14 24 14 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932113 13 72750490 AT A 300 PASS - - - - - Del - D 72750490 72750500 1 12 271.164 - - 9 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 3 3 3 9 26 9 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932154 13 72932354 TG T 360 PASS - - - - - Del - D 72932354 72932356 1 12 325.397 - - 1 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 1 5 1 10 23 40 23 40 1 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932390 13 73551000 A AT 300 PASS PIBF1 CCDS31991.1 r.? - - Ins intronic I 73551000 73551010 1 12 268.154 - - 9 1 1 PIBF1|CCDS31991.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PIBF1|CCDS31991.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 3 5 3 23 19 23 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932530 13 73828064 TA T 300 PASS - - - - - Del - D 73828064 73828074 1 12 261.531 - - 9 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 2 3 4 4 28 24 28 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932594 13 73973808 G GA 660 PASS - - - - - Ins - I 73973808 73973814 1 42 589.938 - - 5 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 6 6 7 29 28 29 29 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932629 13 74095988 CA C 420 PASS - - - - - Del - D 74095988 74095994 1 20 379.028 - - 5 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 3 5 3 34 16 34 16 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932643 13 74156135 CA C 300 PASS - - - - - Del - D 74156135 74156144 1 12 271.164 - - 8 1 1 - - ./. 0 0 0 0 22 6 22 6 0 0 ./. 2 3 5 5 42 22 42 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932692 13 74351965 CT C 360 PASS KLF12 CCDS9449.1 r.? - - Del intronic D 74351965 74351974 1 16 324.795 - - 8 1 1 KLF12|CCDS9449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KLF12|CCDS9449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 3 4 5 26 24 26 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932836 13 74714503 TA T 329 PASS - - - - - Del - D 74714503 74714513 1 7 325.397 - - 9 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 6 0 9 0 29 8 29 8 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932948 13 75024259 GT G 540 PASS - - - - - Del - D 75024259 75024267 1 28 488.095 - - 7 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 6 3 8 4 36 28 36 28 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759932983 13 75136410 G GA 360 PASS - - - - - Ins - I 75136410 75136415 1 12 315.764 - - 4 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 5 1 5 1 32 21 32 22 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759933005 13 75222219 CT C 360 PASS - - - - - Del - D 75222219 75222229 1 16 325.397 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 3 4 6 36 33 36 33 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759933038 13 75336574 CA C 300 PASS - - - - - Del - D 75336574 75336582 1 10 271.164 - - 7 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 4 1 5 2 22 24 22 24 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759933146 13 75626819 TA T 329 PASS - - - - - Del - D 75626819 75626829 1 12 325.397 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 5 1 5 17 30 17 31 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759933286 13 76070354 CAG C 300 PASS - - - - - Del - D 76070354 76070358 2 12 271.164 - - 1 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 2 3 3 4 19 25 19 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759933373 13 76294305 AT A 420 PASS LMO7 CCDS9454.1 r.? - - Del intronic D 76294305 76294312 1 20 378.426 - - 6 1 1 LMO7|CCDS9454.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMO7|CCDS9454.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 16 7 16 0 0 ./. 4 3 5 3 19 22 19 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759933390 13 76353805 G GTA 300 PASS LMO7 CCDS9454.1 r.? - - Ins intronic I 76353805 76353815 2 12 265.143 - - 4 1 1 LMO7|CCDS9454.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LMO7|CCDS9454.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 15 3 15 0 0 ./. 2 3 3 4 28 27 28 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759933420 13 76430508 CT C 360 PASS LMO7 CCDS9454.1 r.? - - Del intronic D 76430508 76430518 1 15 325.397 - - 9 1 1 LMO7|CCDS9454.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMO7|CCDS9454.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 2 5 2 24 28 24 28 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759933514 13 76685305 A AT 412 PASS - - - - - Ins - I 76685305 76685312 1 20 375.415 - - 6 1 1 - - ./. 0 0 0 0 15 8 15 9 0 0 ./. 3 4 4 6 22 33 22 33 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759933566 13 76828588 CT C 360 PASS - - - - - Del - D 76828588 76828598 1 15 325.397 - - 9 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 2 4 2 6 28 31 28 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759933853 13 77969718 T TG 300 PASS - - - - - Ins - I 77969718 77969722 1 10 268.154 - - 3 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 1 4 1 5 8 31 8 31 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759933914 13 78265886 T TA 480 PASS - - - - - Ins - I 78265886 78265895 1 21 429.046 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 2 6 3 35 21 35 21 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934132 13 79071767 CT C 480 PASS - - - - - Del - D 79071767 79071775 1 25 431.454 - - 7 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 4 7 5 34 28 34 28 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934215 13 79360270 G GT 660 PASS - - - - - Ins - I 79360270 79360278 1 42 588.734 - - 7 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 6 5 9 7 31 40 31 40 9 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934408 13 79999730 CT C 300 PASS - - - - - Del - D 79999730 79999739 1 12 271.164 - - 8 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 3 2 3 2 16 15 16 15 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934437 13 80093917 AT A 420 PASS NDFIP2 CCDS31998.1 r.? - - Del intronic D 80093917 80093925 1 8 379.63 - - 7 1 1 NDFIP2|CCDS31998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NDFIP2|CCDS31998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 7 0 8 1 35 17 35 17 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934446 13 80142026 AT A 300 PASS - - - - - Del - D 80142026 80142036 1 10 271.164 - - 9 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 1 4 1 18 23 18 23 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934494 13 80354716 AT A 420 PASS - - - - - Del - D 80354716 80354724 1 20 379.63 - - 7 1 1 - - ./. 0 0 0 0 4 10 4 10 0 0 ./. 3 4 4 5 33 35 33 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934543 13 80551678 T TA 294 PASS - - - - - Ins - I 80551678 80551687 1 10 268.154 - - 8 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 1 4 3 6 25 36 25 36 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934662 13 80900766 A AT 540 PASS - - - - - Ins - I 80900766 80900772 1 30 482.075 - - 5 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 5 6 6 31 26 31 26 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934682 13 80948337 CA C 600 PASS - - - - - Del - D 80948337 80948346 1 32 542.328 - - 8 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 7 3 7 3 27 15 27 15 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934700 13 81019535 TC T 300 PASS - - - - - Del - D 81019535 81019543 1 12 271.164 - - 7 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 2 3 4 4 27 26 27 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934718 13 81062773 GA G 480 PASS - - - - - Del - D 81062773 81062781 1 24 433.863 - - 7 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 5 3 5 31 24 31 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934785 13 81267520 GA G 540 PASS - - - - - Del - D 81267520 81267525 1 24 488.095 - - 4 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 7 5 7 34 31 34 31 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934786 13 81267695 TA T 600 PASS - - - - - Del - D 81267695 81267701 1 36 538.716 - - 5 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 5 5 5 26 31 26 31 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934826 13 81384151 AT A 300 PASS - - - - - Del - D 81384151 81384158 1 12 271.164 - - 6 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 3 2 4 20 15 20 15 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934889 13 81670244 GT G 300 PASS - - - - - Del - D 81670244 81670251 1 12 271.164 - - 6 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 3 6 21 18 21 18 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934931 13 81858151 CT C 540 PASS - - - - - Del - D 81858151 81858161 1 30 488.095 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 4 5 5 28 27 28 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759934934 13 81896721 CT C 360 PASS - - - - - Del - D 81896721 81896730 1 12 324.795 - - 8 1 1 - - ./. 0 0 0 0 19 5 19 5 0 0 ./. 1 5 1 5 27 28 27 28 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935015 13 82273167 GT G 360 PASS - - - - - Del - D 82273167 82273176 1 15 325.397 - - 8 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 2 5 4 23 28 23 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935054 13 82399501 TA T 300 PASS - - - - - Del - D 82399501 82399511 1 10 271.164 - - 9 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 1 5 3 23 35 23 35 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935077 13 82486407 TA T 360 PASS - - - - - Del - D 82486407 82486417 1 15 317.57 - - 9 1 1 - - ./. 0 0 0 0 14 26 14 26 0 0 ./. 4 2 4 3 23 21 23 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935126 13 82810717 C CA 480 PASS - - - - - Ins - I 82810717 82810724 1 21 429.046 - - 6 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 6 2 8 18 33 18 33 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935128 13 82815269 GAAGA G 329 PASS - - - - - Del - D 82815269 82815278 4 15 324.193 - - 2 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 4 2 4 7 23 7 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935130 13 82818231 TA T 300 PASS - - - - - Del - D 82818231 82818240 1 12 271.164 - - 8 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 2 3 2 3 15 29 15 29 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935146 13 82908997 GT G 420 PASS - - - - - Del - D 82908997 82909007 1 14 379.63 - - 9 1 1 - - ./. 0 0 0 0 13 26 13 26 0 0 ./. 6 1 8 1 29 4 29 4 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935157 13 82964851 CT C 300 PASS - - - - - Del - D 82964851 82964861 1 10 271.164 - - 9 1 1 - - ./. 0 0 0 0 17 6 17 6 0 0 ./. 1 4 1 4 14 29 14 29 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935216 13 83177877 CT C 300 PASS - - - - - Del - D 83177877 83177883 1 12 271.164 - - 5 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 3 2 4 4 28 4 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935392 13 83965405 CT C 300 PASS - - - - - Del - D 83965405 83965413 1 6 271.164 - - 7 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 0 5 0 5 2 28 2 28 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935646 13 85127527 A AT 300 PASS - - - - - Ins - I 85127527 85127536 1 12 268.154 - - 8 1 1 - - ./. 0 0 0 0 12 9 13 9 0 0 ./. 3 2 4 2 21 24 22 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935832 13 85741046 CA C 269 PASS - - - - - Del - D 85741046 85741054 1 12 271.164 - - 7 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 5 2 36 21 36 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935834 13 85768008 CA C 337 PASS - - - - - Del - D 85768008 85768017 1 16 325.397 - - 8 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 3 3 3 4 22 27 22 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935835 13 85783616 GTC G 420 PASS - - - - - Del - D 85783616 85783627 2 18 379.63 - - 5 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 2 5 4 20 31 20 31 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935869 13 85864165 C CA 269 PASS - - - - - Ins - I 85864165 85864173 1 12 266.95 - - 7 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 2 5 4 32 18 32 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759935906 13 85918421 AT A 538 PASS - - - - - Del - D 85918421 85918430 1 32 542.328 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 7 4 8 24 28 24 28 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759936107 13 86521377 CT C 420 PASS - - - - - Del - D 86521377 86521386 1 20 379.63 - - 8 1 1 - - ./. 0 0 0 0 10 22 10 22 0 0 ./. 3 4 4 5 19 29 19 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759936248 13 87599005 TA T 300 PASS - - - - - Del - D 87599005 87599015 1 12 271.164 - - 9 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 2 3 4 31 19 31 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759936284 13 87798854 AG A 540 PASS - - - - - Del - D 87798854 87798861 1 24 487.493 - - 6 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 7 2 10 31 39 31 39 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759936342 13 88088167 AT A 300 PASS - - - - - Del - D 88088167 88088176 1 10 271.164 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 1 5 1 15 7 15 7 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759936379 13 88229274 CT C 300 PASS - - - - - Del - D 88229274 88229284 1 12 268.756 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 4 3 19 30 19 30 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759936434 13 88493712 T TA 300 PASS - - - - - Ins - I 88493712 88493721 1 6 268.154 - - 8 1 1 - - ./. 0 0 0 0 20 9 20 9 0 0 ./. 0 5 0 8 26 29 26 29 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759936556 13 88979100 CCTT C 420 PASS - - - - - Del - D 88979100 88979106 3 14 379.63 - - 1 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 1 6 1 25 5 25 5 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759936734 13 89511634 GT G 360 PASS - - - - - Del - D 89511634 89511644 1 15 325.397 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 4 2 5 18 28 18 28 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759936805 13 89849573 GT G 540 PASS - - - - - Del - D 89849573 89849580 1 28 488.095 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 6 5 6 36 28 36 28 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759936866 13 89995095 CT C 420 PASS - - - - - Del - D 89995095 89995103 1 20 379.63 - - 7 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 4 3 5 20 39 20 39 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759937299 13 91299215 CCT C 300 PASS - - - - - Del - D 91299215 91299227 2 12 270.562 - - 5 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 2 3 13 21 13 21 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759937431 13 91783048 T TG 360 PASS - - - - - Ins - I 91783048 91783057 1 16 321.785 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 5 3 31 27 31 28 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759937468 13 91965290 CAA C 420 PASS - - - - - Del - D 91965290 91965300 2 18 379.028 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 2 5 2 23 3 23 3 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759937471 13 91979376 CA C 420 PASS - - - - - Del - D 91979376 91979384 1 14 379.63 - - 7 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 6 1 7 1 31 23 31 23 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759937626 13 92601146 G GT 360 PASS GPC5 CCDS9468.1 r.? - - Ins intronic I 92601146 92601153 1 15 319.376 - - 6 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 18 0 0 ./. 2 4 5 5 24 20 24 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759937662 13 92709543 C CA 360 PASS GPC5 CCDS9468.1 r.? - - Ins intronic I 92709543 92709551 1 15 321.785 - - 7 1 - GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 4 3 4 27 31 27 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759937680 13 92755421 GT G 300 PASS GPC5 CCDS9468.1 r.? - - Del intronic D 92755421 92755430 1 10 271.164 - - 8 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 4 2 8 15 29 15 29 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759937727 13 92896500 C CA 420 PASS GPC5 CCDS9468.1 r.? - - Ins intronic I 92896500 92896502 1 20 374.211 - - 1 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 16 9 0 0 ./. 4 3 5 4 30 25 30 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759937765 13 93044335 C CA 360 PASS GPC5 CCDS9468.1 r.? - - Ins intronic I 93044335 93044342 1 12 321.785 - - 6 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 16 22 16 0 0 ./. 5 1 6 2 32 16 32 16 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759937914 13 93609819 G GT 300 PASS - - - - - Ins - I 93609819 93609828 1 10 268.154 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 15 0 0 ./. 4 1 6 2 34 41 35 41 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759938086 13 94059646 TA T 360 PASS GPC6 CCDS9469.1 r.? - - Del intronic D 94059646 94059656 1 16 325.397 - - 9 1 1 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 3 4 3 37 15 37 15 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759938095 13 94089206 AT A 300 PASS GPC6 CCDS9469.1 r.? - - Del intronic D 94089206 94089216 1 12 271.164 - - 9 1 1 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 2 7 2 25 25 25 25 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759938230 13 94535694 AT A 339 PASS GPC6 CCDS9469.1 r.? - - Del intronic D 94535694 94535703 1 21 433.863 - - 8 1 1 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 2 6 3 6 19 20 19 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759938457 13 95357132 TG T 360 PASS SOX21 CCDS9473.1 r.? - - Del downstream D 95357132 95357141 1 15 320.58 - - 8 1 1 SOX21|CCDS9473.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AL137061.2|ENST00000513062|r.2256delC|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 4 4 18 23 18 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759938463 13 95359965 AC A 420 PASS SOX21 CCDS9473.1 r.? - - Del downstream D 95359965 95359971 1 18 379.63 - - 5 1 1 SOX21|CCDS9473.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AL137061.2|ENST00000513062|r.785delG|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 5 2 6 24 21 24 21 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759938525 13 95536925 TA T 300 PASS AL139381.2 ENST00000505287 r.? - - Del intronic D 95536925 95536935 1 10 271.164 - - 9 1 1 AL139381.2|ENST00000505287|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL139381.2|ENST00000505287|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 15 4 15 0 0 ./. 1 4 1 6 19 32 19 32 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759938869 13 96109518 T TA 300 PASS CLDN10 CCDS9475.1 r.? - - Ins intronic I 96109518 96109528 1 12 268.154 - - 9 1 1 CLDN10|CCDS9475.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLDN10|CCDS9475.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 3 29 29 29 29 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759938909 13 96229381 C CA 420 PASS DZIP1 CCDS9478.1 r.? - - Ins downstream I 96229381 96229389 1 18 374.813 - - 7 1 1 DZIP1|CCDS9478.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CLDN10|CCDS9475.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 2 5 3 17 25 17 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939010 13 96580469 G GC 300 PASS UGGT2 CCDS9480.1 r.? - - Ins intronic I 96580469 96580476 1 10 266.95 - - 6 1 1 UGGT2|CCDS9480.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UGGT2|CCDS9480.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 4 16 4 0 0 ./. 1 4 2 4 25 27 26 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939049 13 96743195 TC T 389 PASS HS6ST3 CCDS9481.1 r.104delC c.80delC p.S29fs*103 Del frameshift D 96743195 96743201 1 20 376.017 - - 5 1 1 HS6ST3|CCDS9481.1|r.104delC|c.80delC|p.S29fs*103|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 HS6ST3|CCDS9481.1|r.104delC|c.80delC|p.S29fs*103|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 3 5 3 29 27 29 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939183 13 97219499 C CA 420 PASS HS6ST3 CCDS9481.1 r.? - - Ins intronic I 97219499 97219505 1 8 375.415 - - 5 1 1 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 0 7 0 8 12 19 12 19 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939254 13 97610534 G GA 360 PASS - - - - - Ins - I 97610534 97610544 1 12 320.58 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 10 0 0 ./. 1 5 3 6 17 26 17 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939360 13 98098522 C CT 420 PASS RAP2A CCDS9485.1 r.? - - Ins intronic I 98098522 98098532 1 18 375.415 - - 9 1 1 RAP2A|CCDS9485.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAP2A|CCDS9485.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 2 6 4 33 32 33 32 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939520 13 98636876 GA G 269 PASS IPO5 CCDS31999.1 r.? - - Del intronic D 98636876 98636881 1 12 271.164 - - 4 1 1 IPO5|CCDS31999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IPO5|CCDS31999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 2 4 4 27 13 27 13 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939539 13 98689217 CA C 540 PASS - - - - - Del - D 98689217 98689227 1 24 487.493 - - 9 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 7 6 8 25 22 25 22 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939585 13 98785642 TA T 360 PASS - - - - - Del - D 98785642 98785651 1 15 325.397 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 2 5 3 20 14 20 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939629 13 98889864 AT A 360 PASS FARP1 CCDS9487.1 r.? - - Del intronic D 98889864 98889871 1 15 325.397 - - 6 1 1 FARP1|CCDS9487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FARP1|CCDS9487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 2 4 2 22 28 22 28 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939743 13 99135651 GA G 600 PASS STK24 CCDS32001.1 r.? - - Del intronic D 99135651 99135661 1 35 542.328 - - 9 1 1 STK24|CCDS32001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK24|CCDS32001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 4 7 9 31 29 31 29 7 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939760 13 99167768 TG T 480 PASS STK24 CCDS32001.1 r.? - - Del intronic D 99167768 99167776 1 16 430.852 - - 7 1 1 STK24|CCDS32001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK24|CCDS32001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 7 1 8 2 29 29 29 29 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939777 13 99259566 AT A 360 PASS - - - - - Del - D 99259566 99259574 1 15 324.193 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 17 0 0 ./. 2 4 3 4 18 32 18 32 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939788 13 99280992 TA T 360 PASS - - - - - Del - D 99280992 99281002 1 12 324.193 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 5 1 8 12 20 12 20 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759939846 13 99399842 CA C 360 PASS SLC15A1 CCDS9489.1 r.? - - Del intronic D 99399842 99399850 1 12 325.397 - - 7 1 1 SLC15A1|CCDS9489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC15A1|CCDS9489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 5 4 7 26 25 26 25 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940086 13 100104995 A AT 551 PASS - - - - - Ins - I 100104995 100105002 1 35 529.083 - - 6 1 1 - - ./. 0 0 0 0 8 17 8 18 0 0 ./. 4 6 7 8 26 27 26 27 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940151 13 100248990 TG T 420 PASS - - - - - Del - D 100248990 100248992 1 18 379.028 - - 1 1 - - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 5 3 5 23 26 23 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940290 13 100600776 CA C 480 PASS - - - - - Del - D 100600776 100600786 1 24 433.863 - - 9 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 5 3 6 3 35 20 35 20 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940292 13 100605855 AGAG A 389 PASS - - - - - Del - D 100605855 100605864 3 20 379.028 - - 2 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 4 3 4 18 25 18 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940371 13 100765005 A AT 360 PASS PCCA CCDS9496.2 r.? - - Ins intronic I 100765005 100765011 1 16 319.978 - - 5 1 1 PCCA|CCDS9496.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCCA|CCDS9496.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 3 3 4 7 28 33 29 33 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940458 13 101014185 AG A 360 PASS PCCA CCDS9496.2 r.? - - Del intronic D 101014185 101014187 1 16 325.397 - - 1 1 1 PCCA|CCDS9496.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCCA|CCDS9496.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 3 6 5 35 29 35 29 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940460 13 101017144 TA T 300 PASS PCCA CCDS9496.2 r.? - - Del intronic D 101017144 101017154 1 12 271.164 - - 9 1 1 PCCA|CCDS9496.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCCA|CCDS9496.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 4 2 27 22 27 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940589 13 101476362 C CT 420 PASS - - - - - Ins - I 101476362 101476372 1 20 374.211 - - 9 1 1 - - ./. 0 0 0 0 22 9 23 9 0 0 ./. 3 4 5 4 27 21 27 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940817 13 102187594 C CA 420 PASS ITGBL1 CCDS9499.1 r.? - - Ins intronic I 102187594 102187603 1 18 375.415 - - 8 1 1 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 2 5 3 6 21 27 21 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940825 13 102220344 GA G 420 PASS ITGBL1 CCDS9499.1 r.? - - Del intronic D 102220344 102220353 1 14 378.426 - - 8 1 1 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 6 1 7 13 39 13 39 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940971 13 102629684 GA G 420 PASS FGF14 CCDS9500.1 r.? - - Del intronic D 102629684 102629694 1 20 371.201 - - 9 1 1 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 3 7 4 34 12 34 12 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759940978 13 102669421 GT G 300 PASS FGF14 CCDS9500.1 r.? - - Del intronic D 102669421 102669430 1 10 271.164 - - 8 1 1 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 1 4 1 4 19 23 19 23 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759941227 13 103456670 C CT 300 PASS BIVM CCDS9505.1 r.? - - Ins intronic I 103456670 103456679 1 12 265.143 - - 8 1 1 BIVM|CCDS9505.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BIVM|CCDS9505.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 3 5 25 24 25 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759941229 13 103468396 A AT 300 PASS BIVM CCDS9505.1 r.? - - Ins intronic I 103468396 103468404 1 12 268.154 - - 7 1 1 BIVM|CCDS9505.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BIVM|CCDS9505.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 4 2 13 31 13 31 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759941249 13 103544049 C CT 360 PASS - - - - - Ins - I 103544049 103544059 1 7 313.958 - - 9 1 - - - ./. 0 0 0 0 11 23 12 23 0 0 ./. 6 0 7 0 27 32 29 32 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759941311 13 103703785 GA G 300 PASS SLC10A2 CCDS9506.1 r.1183-4delu c.586-4delt p.? Del splice region D 103703785 103703795 1 10 269.96 - - 9 1 1 SLC10A2|CCDS9506.1|r.1183-4delu|c.586-4delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 SLC10A2|CCDS9506.1|r.1183-4delu|c.586-4delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 23 9 23 9 0 0 ./. 1 4 2 4 25 20 25 20 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759941633 13 104912326 TA T 449 PASS - - - - - Del - D 104912326 104912335 1 24 433.863 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 5 7 6 27 19 27 19 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759941666 13 105036629 CT C 300 PASS - - - - - Del - D 105036629 105036639 1 12 271.164 - - 9 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 3 3 5 16 23 16 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759941949 13 105893346 GA G 420 PASS - - - - - Del - D 105893346 105893356 1 18 379.63 - - 9 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 2 5 4 7 15 26 15 26 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759941997 13 106103096 CT C 480 PASS - - - - - Del - D 106103096 106103104 1 24 433.863 - - 7 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 5 4 9 24 35 24 35 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942175 13 106647520 TTTG T 569 PASS - - - - - Del - D 106647520 106647528 3 35 542.328 - - 2 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 6 4 6 24 33 24 33 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942244 13 106780287 AC A 420 PASS - - - - - Del - D 106780287 106780289 1 20 379.63 - - 1 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 3 4 3 23 27 23 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942390 13 107191101 CA C 300 PASS EFNB2 CCDS9507.1 r.? - - Del upstream D 107191101 107191110 1 10 269.96 - - 8 1 1 EFNB2|CCDS9507.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 EFNB2|CCDS9507.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 1 4 2 22 20 22 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942398 13 107200526 CA C 300 PASS ARGLU1 CCDS41906.1 r.? - - Del intronic D 107200526 107200536 1 12 271.164 - - 9 1 1 ARGLU1|CCDS41906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARGLU1|CCDS41906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 2 3 2 22 19 22 19 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942452 13 107394304 GA G 420 PASS - - - - - Del - D 107394304 107394313 1 18 379.63 - - 8 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 2 5 2 8 20 35 20 35 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942573 13 107721119 TA T 300 PASS - - - - - Del - D 107721119 107721128 1 12 270.562 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 2 3 3 19 15 19 15 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942590 13 107819029 GT G 480 PASS FAM155A CCDS32006.1 r.? - - Del downstream D 107819029 107819037 1 21 433.863 - - 7 1 1 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 6 4 7 30 44 30 44 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942628 13 107919890 T TA 300 PASS FAM155A CCDS32006.1 r.? - - Ins intronic I 107919890 107919899 1 12 268.154 - - 8 1 1 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 7 24 7 0 0 ./. 2 3 2 4 17 27 17 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942653 13 107996263 GT G 360 PASS FAM155A CCDS32006.1 r.? - - Del intronic D 107996263 107996273 1 15 325.397 - - 9 1 1 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 4 6 5 21 25 21 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942789 13 108388268 AT A 480 PASS FAM155A CCDS32006.1 r.? - - Del intronic D 108388268 108388276 1 24 433.863 - - 7 1 1 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 5 3 6 26 39 26 39 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942939 13 108915470 AT A 300 PASS - - - - - Del - D 108915470 108915480 1 10 271.164 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 4 1 5 8 30 8 30 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759942974 13 109014857 TA T 360 PASS - - - - - Del - D 109014857 109014864 1 12 325.397 - - 6 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 1 5 1 21 17 21 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943018 13 109186329 AT A 420 PASS - - - - - Del - D 109186329 109186338 1 20 379.028 - - 8 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 4 6 4 22 11 22 11 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943091 13 109380731 A AT 300 PASS MYO16 CCDS32008.1 r.? - - Ins intronic I 109380731 109380738 1 6 266.95 - - 6 1 1 MYO16|CCDS32008.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYO16|CCDS32008.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 0 7 0 32 4 32 5 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943319 13 110086397 GA G 360 PASS - - - - - Del - D 110086397 110086407 1 15 325.397 - - 9 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 4 2 4 10 11 10 11 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943355 13 110202062 CT C 329 PASS - - - - - Del - D 110202062 110202072 1 12 324.795 - - 9 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 5 1 8 26 28 26 28 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943389 13 110308300 TC T 300 PASS - - - - - Del - D 110308300 110308307 1 12 271.164 - - 6 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 7 3 22 23 22 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943525 13 110726212 C CT 360 PASS - - - - - Ins - I 110726212 110726219 1 12 321.785 - - 6 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 5 1 6 2 33 31 33 31 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943624 13 111088970 TA T 480 PASS COL4A2 CCDS41907.1 r.? - - Del intronic D 111088970 111088980 1 21 433.261 - - 9 1 1 COL4A2|CCDS41907.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL4A2|CCDS41907.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 6 2 6 3 31 25 31 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943626 13 111092620 CT C 300 PASS COL4A2 CCDS41907.1 r.? - - Del intronic D 111092620 111092629 1 12 271.164 - - 8 1 1 COL4A2|CCDS41907.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL4A2|CCDS41907.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 3 4 11 26 11 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943741 13 111324238 CA C 377 PASS CARS2 CCDS9514.1 r.? - - Del intronic D 111324238 111324247 1 14 375.415 - - 8 1 1 CARS2|CCDS9514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CARS2|CCDS9514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 1 9 5 35 27 35 27 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943749 13 111342745 T TTA 300 PASS CARS2 CCDS9514.1 r.? - - Ins intronic I 111342745 111342756 2 12 265.143 - - 5 1 1 CARS2|CCDS9514.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CARS2|CCDS9514.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 2 5 3 28 14 28 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943873 13 111688769 G GT 300 PASS - - - - - Ins - I 111688769 111688779 1 12 267.552 - - 9 1 - - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 3 2 3 5 25 34 25 34 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759943936 13 111861909 CT C 480 PASS ARHGEF7 CCDS45068.1 r.? - - Del intronic D 111861909 111861918 1 21 429.046 - - 8 1 1 ARHGEF7|CCDS45068.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGEF7|CCDS45068.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 6 2 7 20 27 20 27 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759944011 13 112060801 CA C 420 PASS - - - - - Del - D 112060801 112060809 1 20 379.63 - - 7 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 4 3 6 4 25 33 25 33 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759944109 13 112506076 TA T 300 PASS - - - - - Del - D 112506076 112506082 1 12 270.562 - - 5 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 4 5 21 36 21 36 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759944249 13 112997412 CG C 360 PASS - - - - - Del - D 112997412 112997420 1 16 324.193 - - 7 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 3 5 4 17 26 17 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759944253 13 113015951 AAT A 420 PASS - - - - - Del - D 113015951 113015955 2 20 378.426 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 3 7 5 33 21 33 21 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759944367 13 113446640 GA G 360 PASS ATP11A CCDS32011.1 r.? - - Del intronic D 113446640 113446650 1 12 325.397 - - 9 1 1 ATP11A|CCDS32011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP11A|CCDS32011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 5 3 5 29 29 29 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759944392 13 113555477 AT A 420 PASS MCF2L ENST00000375608 r.? - - Del intronic D 113555477 113555486 1 20 379.63 - - 8 1 1 MCF2L|ENST00000375608|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MCF2L|ENST00000375608|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 3 5 8 27 26 27 26 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759944555 13 114074334 AAGG A 360 PASS ADPRHL1 CCDS9536.1 r.? - - Del downstream D 114074334 114074341 3 16 325.397 - - 2 1 1 ADPRHL1|CCDS9536.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ADPRHL1|CCDS9536.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 4 5 31 21 31 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759944740 13 114873149 TC T 360 PASS RASA3 CCDS32016.1 r.? - - Del intronic D 114873149 114873158 1 12 325.397 - - 8 1 1 RASA3|CCDS32016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASA3|CCDS32016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 7 3 7 0 0 ./. 5 1 5 1 27 22 27 22 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759945014 14 19451480 TA T 262 PASS - - - - - Del - D 19451480 19451489 1 7 323.95 - - 8 1 1 - - ./. 0 0 0 0 29 25 33 25 0 0 ./. 0 6 0 7 8 57 10 57 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759945118 14 19795009 CT C 480 PASS - - - - - Del - D 19795009 19795017 1 25 434.341 - - 7 1 1 - - ./. 0 0 0 0 26 34 26 34 0 0 ./. 4 4 7 4 89 87 89 87 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759945568 14 20983139 CA C 480 PASS RNASE10 CCDS32035.1 r.? - - Del downstream D 20983139 20983149 1 24 431.933 - - 9 1 1 RNASE10|CCDS32035.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RNASE10|CCDS32035.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 3 6 4 26 14 26 14 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759945792 14 21597792 CA C 420 PASS - - - - - Del - D 21597792 21597801 1 18 379.447 - - 8 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 2 5 2 6 31 31 31 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759945832 14 21692244 C CAT 480 PASS HNRNPC CCDS41915.1 r.? - - Ins intronic I 21692244 21692254 2 25 424.708 - - 4 1 1 HNRNPC|CCDS41915.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HNRNPC|CCDS41915.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 10 0 0 ./. 4 4 5 5 41 26 42 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759945853 14 21757499 C CA 449 PASS RPGRIP1 CCDS45080.1 r.? - - Ins intronic I 21757499 21757506 1 25 429.525 - - 6 1 1 RPGRIP1|CCDS45080.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RPGRIP1|CCDS45080.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 16 7 0 0 ./. 4 4 5 6 31 24 32 24 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759945879 14 21790311 GT G 420 PASS RPGRIP1 CCDS45080.1 r.? - - Del intronic D 21790311 21790321 1 18 374.63 - - 9 1 1 RPGRIP1|CCDS45080.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPGRIP1|CCDS45080.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 2 6 4 24 30 24 30 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759946077 14 22203505 CA C 360 PASS - - - - - Del - D 22203505 22203512 1 15 325.756 - - 6 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 2 4 2 25 22 25 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759946121 14 22399572 AT A 660 PASS - - - - - Del - D 22399572 22399582 1 42 597.219 - - 9 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 6 5 9 5 39 19 39 19 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759946213 14 22764685 CT C 300 PASS TRAC ENST00000446346 r.? - - Del intronic D 22764685 22764695 1 12 271.463 - - 9 1 1 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 2 4 4 14 16 14 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759946401 14 23181268 TAG T 360 PASS - - - - - Del - D 23181268 23181287 2 16 325.756 - - 9 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 3 3 3 28 20 28 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759946538 14 23435658 CA C 389 PASS JUB CCDS9581.1 r.? - - Del downstream D 23435658 23435668 1 18 380.049 - - 9 1 1 JUB|CCDS9581.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 JUB|CCDS9581.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 2 5 2 20 19 20 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759947134 14 25333830 GA G 480 PASS STXBP6 CCDS9634.1 r.? - - Del intronic D 25333830 25333839 1 25 434.341 - - 8 1 1 STXBP6|CCDS9634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STXBP6|CCDS9634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 4 4 5 12 30 12 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759947135 14 25334104 TA T 300 PASS STXBP6 CCDS9634.1 r.? - - Del intronic D 25334104 25334113 1 6 270.861 - - 8 1 1 STXBP6|CCDS9634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STXBP6|CCDS9634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 0 5 1 6 2 17 2 17 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759947147 14 25376160 TA T 540 PASS STXBP6 CCDS9634.1 r.? - - Del intronic D 25376160 25376169 1 30 488.634 - - 8 1 1 STXBP6|CCDS9634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STXBP6|CCDS9634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 4 5 4 23 27 23 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759947568 14 26753020 TTG T 360 PASS - - - - - Del - D 26753020 26753029 2 15 325.756 - - 4 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 5 3 26 31 26 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759947761 14 27368767 TA T 480 PASS - - - - - Del - D 27368767 27368777 1 16 430.729 - - 9 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 7 1 9 1 23 3 23 3 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948028 14 28399724 AT A 360 PASS - - - - - Del - D 28399724 28399733 1 7 325.756 - - 8 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 6 0 6 0 25 7 25 7 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948029 14 28410593 CA C 457 PASS - - - - - Del - D 28410593 28410602 1 24 434.341 - - 8 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 5 5 5 28 21 28 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948129 14 29011160 AT A 300 PASS - - - - - Del - D 29011160 29011165 1 12 271.463 - - 4 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 3 2 6 2 25 13 25 13 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948133 14 29030726 C CA 360 PASS - - - - - Ins - I 29030726 29030736 1 12 314.317 - - 9 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 1 5 1 7 14 28 15 28 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948172 14 29124766 CA C 420 PASS - - - - - Del - D 29124766 29124774 1 20 380.049 - - 7 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 3 5 3 27 15 27 15 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948183 14 29181151 TA T 397 PASS - - - - - Del - D 29181151 29181157 1 18 380.049 - - 5 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 2 5 2 8 19 20 19 20 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948230 14 29336295 GT G 360 PASS - - - - - Del - D 29336295 29336304 1 16 325.756 - - 8 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 3 3 4 3 22 20 22 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948257 14 29518269 AT A 420 PASS - - - - - Del - D 29518269 29518279 1 18 380.049 - - 9 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 5 3 7 10 27 10 27 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948411 14 30092598 GA G 360 PASS PRKD1 CCDS9637.1 r.? - - Del intronic D 30092598 30092607 1 15 325.756 - - 8 1 1 PRKD1|CCDS9637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKD1|CCDS9637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 4 4 8 28 39 28 39 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948425 14 30133217 AT A 300 PASS PRKD1 CCDS9637.1 r.? - - Del intronic D 30133217 30133226 1 12 269.657 - - 8 1 1 PRKD1|CCDS9637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKD1|CCDS9637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 2 5 2 30 19 30 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948486 14 30382752 GA G 300 PASS PRKD1 CCDS9637.1 r.? - - Del intronic D 30382752 30382760 1 12 271.463 - - 7 1 1 PRKD1|CCDS9637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKD1|CCDS9637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 3 4 4 22 23 22 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948510 14 30478597 TA T 360 PASS - - - - - Del - D 30478597 30478606 1 12 325.756 - - 8 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 1 5 1 4 10 14 10 14 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948547 14 30624010 CT C 360 PASS - - - - - Del - D 30624010 30624019 1 12 325.756 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 1 5 2 23 19 23 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948763 14 31481129 TA T 300 PASS STRN3 CCDS41938.1 r.? - - Del intronic D 31481129 31481139 1 10 271.463 - - 9 1 1 STRN3|CCDS41938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STRN3|CCDS41938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 1 6 1 27 4 27 4 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948812 14 31585837 CT C 360 PASS HECTD1 CCDS41939.1 r.? - - Del intronic D 31585837 31585847 1 15 325.756 - - 9 1 1 HECTD1|CCDS41939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HECTD1|CCDS41939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 2 5 2 36 28 36 28 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759948960 14 31854701 AT A 540 PASS HEATR5A CCDS45094.1 r.? - - Del intronic D 31854701 31854711 1 28 488.634 - - 9 1 1 HEATR5A|CCDS45094.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HEATR5A|CCDS45094.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 6 3 7 4 33 36 33 36 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759949044 14 32115401 CT C 420 PASS NUBPL CCDS41940.1 r.? - - Del intronic D 32115401 32115411 1 20 379.446 - - 9 1 1 NUBPL|CCDS41940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUBPL|CCDS41940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 4 4 6 32 34 32 34 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759949052 14 32154714 CT C 360 PASS NUBPL CCDS41940.1 r.? - - Del intronic D 32154714 32154724 1 16 325.756 - - 9 1 1 NUBPL|CCDS41940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUBPL|CCDS41940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 4 4 28 24 28 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759949066 14 32182590 AT A 480 PASS NUBPL CCDS41940.1 r.? - - Del intronic D 32182590 32182598 1 21 433.739 - - 7 1 1 NUBPL|CCDS41940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUBPL|CCDS41940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 2 6 3 37 22 37 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759949203 14 32693366 A AT 420 PASS - - - - - Ins - I 32693366 32693373 1 18 371.62 - - 6 1 1 - - ./. 0 0 0 0 15 11 15 12 0 0 ./. 2 5 2 9 19 32 19 33 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759949271 14 32903566 T TA 420 PASS AKAP6 CCDS9644.1 r.? - - Ins intronic I 32903566 32903576 1 20 372.222 - - 9 1 1 AKAP6|CCDS9644.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AKAP6|CCDS9644.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 17 9 18 0 0 ./. 4 3 5 5 24 26 25 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759949468 14 33460146 CA C 300 PASS NPAS3 CCDS9645.1 r.? - - Del intronic D 33460146 33460156 1 6 271.463 - - 9 1 - NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 0 8 1 27 25 27 25 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759949578 14 33818808 AT A 600 PASS NPAS3 CCDS9645.1 r.? - - Del intronic D 33818808 33818817 1 27 541.12 - - 8 1 1 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 2 8 4 11 16 36 16 36 4 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759949623 14 33973482 CTT C 420 PASS NPAS3 CCDS9645.1 r.? - - Del intronic D 33973482 33973490 2 20 380.049 - - 7 1 1 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 3 4 4 18 20 18 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759949728 14 34383426 CA C 300 PASS - - - - - Del - D 34383426 34383436 1 12 271.463 - - 9 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 3 3 21 17 21 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759949732 14 34399023 TA T 360 PASS EGLN3 CCDS9646.1 r.? - - Del intronic D 34399023 34399033 1 15 325.756 - - 9 1 1 EGLN3|CCDS9646.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EGLN3|CCDS9646.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 4 3 18 26 18 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759950204 14 35389470 CA C 420 PASS AL049776.2 ENST00000511927 r.? - - Del intronic D 35389470 35389480 1 20 380.049 - - 9 1 1 AL049776.2|ENST00000511927|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL049776.2|ENST00000511927|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 4 4 4 20 23 20 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759950250 14 35465583 CA C 420 PASS SRP54 CCDS9652.1 r.? - - Del intronic D 35465583 35465591 1 14 379.446 - - 7 1 1 SRP54|CCDS9652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SRP54|CCDS9652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 1 8 1 27 12 27 12 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759950641 14 36489354 GA G 300 PASS - - - - - Del - D 36489354 36489364 1 12 271.463 - - 9 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 2 4 3 29 20 29 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759950773 14 36935582 CCTTT C 251 PASS - - - - - Del - D 36935582 36935593 4 14 378.242 - - 2 1 1 - - ./. 0 0 0 0 4 18 4 18 0 0 ./. 1 6 1 6 17 23 17 23 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759950783 14 36978506 GA G 360 PASS SFTA3 CCDS45097.1 r.? - - Del intronic D 36978506 36978513 1 16 325.756 - - 6 1 1 SFTA3|CCDS45097.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFTA3|CCDS45097.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 3 3 8 28 26 28 26 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759950880 14 37219413 A AT 480 PASS SLC25A21 CCDS9663.1 r.? - - Ins intronic I 37219413 37219422 1 25 428.321 - - 8 1 1 SLC25A21|CCDS9663.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC25A21|CCDS9663.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 4 4 6 17 19 17 19 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759950948 14 37424742 A AT 420 PASS SLC25A21 CCDS9663.1 r.? - - Ins intronic I 37424742 37424752 1 18 368.007 - - 9 1 1 SLC25A21|CCDS9663.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC25A21|CCDS9663.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 2 5 4 29 24 29 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759951017 14 37677207 GT G 480 PASS MIPOL1 CCDS9664.1 r.? - - Del intronic D 37677207 37677215 1 25 434.341 - - 7 1 1 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 4 4 4 4 17 22 17 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759951032 14 37743782 AT A 420 PASS MIPOL1 CCDS9664.1 r.? - - Del intronic D 37743782 37743790 1 14 380.049 - - 7 1 1 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 1 6 2 6 10 26 10 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759951067 14 37848973 AT A 300 PASS MIPOL1 CCDS9664.1 r.? - - Del intronic D 37848973 37848982 1 10 271.463 - - 8 1 1 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 18 5 18 0 0 ./. 1 4 3 4 21 17 21 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759951208 14 38393592 CT C 300 PASS - - - - - Del - D 38393592 38393602 1 10 264.841 - - 9 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 1 4 1 4 26 28 26 28 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759951257 14 38575630 CT C 300 PASS - - - - - Del - D 38575630 38575640 1 12 270.259 - - 9 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 2 3 4 3 15 24 15 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759951467 14 39343713 TA T 360 PASS - - - - - Del - D 39343713 39343723 1 15 325.756 - - 9 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 4 2 4 27 28 27 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759951562 14 39597857 GT G 300 PASS SIP1 CCDS9669.1 r.? - - Del intronic D 39597857 39597866 1 10 271.463 - - 8 1 - SIP1|CCDS9669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SIP1|CCDS9669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 4 1 6 1 31 10 31 10 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759951752 14 40077468 TC T 300 PASS - - - - - Del - D 40077468 40077478 1 10 271.463 - - 9 1 1 - - ./. 0 0 0 0 16 3 16 3 0 0 ./. 4 1 6 1 27 12 27 12 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759951870 14 40508020 AT A 300 PASS - - - - - Del - D 40508020 40508025 1 10 271.463 - - 4 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 1 4 1 6 20 17 20 17 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759951974 14 40833863 AT A 300 PASS - - - - - Del - D 40833863 40833869 1 12 270.259 - - 5 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 5 6 26 32 26 32 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759952060 14 41177898 GA G 300 PASS - - - - - Del - D 41177898 41177907 1 10 271.463 - - 8 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 4 1 4 12 24 12 24 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759952083 14 41317350 CA C 480 PASS - - - - - Del - D 41317350 41317359 1 21 433.739 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 6 3 8 10 25 10 25 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759952108 14 41375285 GA G 420 PASS - - - - - Del - D 41375285 41375293 1 8 380.049 - - 7 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 7 0 9 0 38 2 38 2 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759952207 14 41647098 G GT 300 PASS - - - - - Ins - I 41647098 41647106 1 12 268.453 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 4 3 29 17 29 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759952343 14 42157894 C CA 329 PASS LRFN5 CCDS9678.1 r.? - - Ins intronic I 42157894 42157903 1 7 322.144 - - 8 1 - LRFN5|CCDS9678.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LRFN5|CCDS9678.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 15 0 0 ./. 6 0 10 0 21 1 21 1 10 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759952675 14 43445035 AT A 300 PASS - - - - - Del - D 43445035 43445044 1 10 271.463 - - 8 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 1 4 1 26 14 26 14 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759952963 14 44665426 GT G 420 PASS - - - - - Del - D 44665426 44665434 1 20 380.049 - - 7 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 4 3 5 5 22 31 22 31 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759953030 14 44914627 CT C 480 PASS - - - - - Del - D 44914627 44914637 1 24 431.933 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 5 4 5 24 31 24 31 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759953055 14 44967892 TG T 277 PASS - - - - - Del - D 44967892 44967894 1 10 271.463 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 1 5 2 20 20 20 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759953187 14 45503379 C CA 360 PASS FAM179B CCDS9681.1 r.? - - Ins intronic I 45503379 45503387 1 15 322.144 - - 7 1 1 FAM179B|CCDS9681.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM179B|CCDS9681.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 2 4 4 4 26 19 26 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759953228 14 45596028 CT C 360 PASS FKBP3 CCDS9683.1 r.? - - Del intronic D 45596028 45596037 1 15 324.552 - - 8 1 1 FKBP3|CCDS9683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FKBP3|CCDS9683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 4 2 5 18 36 18 36 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759953312 14 45866303 CA C 300 PASS - - - - - Del - D 45866303 45866313 1 12 271.463 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 3 3 25 20 25 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759953438 14 46345040 C CA 300 PASS - - - - - Ins - I 46345040 46345048 1 6 268.453 - - 7 1 1 - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 5 0 7 0 32 10 32 10 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759953519 14 46619333 GT G 360 PASS - - - - - Del - D 46619333 46619341 1 15 325.756 - - 7 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 4 2 6 2 34 12 34 12 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759953668 14 47081936 CT C 300 PASS - - - - - Del - D 47081936 47081946 1 12 271.463 - - 9 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 6 3 23 24 23 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759953913 14 47934073 CAAACA C 300 PASS MDGA2 CCDS45098.1 r.? - - Del intronic D 47934073 47934096 5 10 271.463 - - 4 1 - MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 1 4 1 24 25 24 25 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759953925 14 48016216 TA T 300 PASS MDGA2 CCDS45098.1 r.? - - Del intronic D 48016216 48016225 1 12 269.657 - - 8 1 1 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 3 4 5 28 29 28 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759953945 14 48100034 CA C 300 PASS MDGA2 CCDS45098.1 r.? - - Del intronic D 48100034 48100041 1 12 271.463 - - 6 1 1 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 2 3 2 18 20 18 20 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954031 14 48342635 CT C 300 PASS - - - - - Del - D 48342635 48342644 1 10 269.657 - - 8 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 1 4 2 4 11 26 11 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954067 14 48438117 CT C 480 PASS - - - - - Del - D 48438117 48438126 1 25 434.341 - - 8 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 4 4 7 6 32 26 32 26 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954330 14 49549434 C CA 300 PASS - - - - - Ins - I 49549434 49549441 1 12 268.453 - - 6 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 4 2 33 16 33 16 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954365 14 49708930 CA C 480 PASS - - - - - Del - D 49708930 49708940 1 16 434.341 - - 9 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 1 7 1 9 22 38 22 38 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954387 14 49813262 TA T 360 PASS - - - - - Del - D 49813262 49813271 1 16 325.756 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 3 5 3 24 29 24 29 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954430 14 50008345 CT C 300 PASS - - - - - Del - D 50008345 50008354 1 12 271.463 - - 8 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 2 5 2 21 32 21 32 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954462 14 50083199 GT G 540 PASS MGAT2 CCDS9690.1 r.? - - Del upstream D 50083199 50083208 1 24 488.032 - - 8 1 1 MGAT2|CCDS9690.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 MGAT2|CCDS9690.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 23 10 23 10 0 0 ./. 2 7 3 7 35 29 35 29 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954471 14 50116176 C CT 389 PASS POLE2 CCDS32073.1 r.? - - Ins intronic I 50116176 50116186 1 14 375.232 - - 9 1 1 POLE2|CCDS32073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 POLE2|CCDS32073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 1 8 2 21 15 21 15 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954550 14 50259919 CA C 420 PASS SDCCAG1 CCDS9694.1 r.? - - Del intronic D 50259919 50259929 1 20 380.049 - - 9 1 1 SDCCAG1|CCDS9694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDCCAG1|CCDS9694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 4 3 5 25 20 25 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954580 14 50305203 AT A 594 PASS SDCCAG1 CCDS9694.1 r.? - - Del intronic D 50305203 50305209 1 35 542.927 - - 5 1 1 SDCCAG1|CCDS9694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDCCAG1|CCDS9694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 6 4 7 4 32 34 32 34 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954604 14 50350120 C CA 600 PASS - - - - - Ins - I 50350120 50350129 1 27 535.1 - - 8 1 1 - - ./. 0 0 0 0 9 6 10 6 0 0 ./. 2 8 2 10 38 36 38 37 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954667 14 50484061 A AC 420 PASS - - - - - Ins - I 50484061 50484069 1 20 375.834 - - 7 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 4 3 4 29 25 30 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954703 14 50578021 GT G 600 PASS C14orf138 CCDS9696.2 r.? - - Del intronic D 50578021 50578030 1 35 542.927 - - 8 1 1 C14orf138|CCDS9696.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C14orf138|CCDS9696.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 6 4 7 5 31 21 31 21 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954813 14 50825257 TA T 300 PASS CDKL1 CCDS9699.1 r.? - - Del intronic D 50825257 50825259 1 10 271.463 - - 1 1 1 CDKL1|CCDS9699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDKL1|CCDS9699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 1 4 2 5 12 34 12 34 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759954886 14 51026462 G GA 360 PASS ATL1 CCDS32077.1 r.? - - Ins intronic I 51026462 51026472 1 12 322.144 - - 9 1 1 ATL1|CCDS32077.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ATL1|CCDS32077.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 1 6 4 37 30 38 31 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759955017 14 51463820 T TG 600 PASS TRIM9 CCDS45105.1 r.3315_3316insc c.? p.? Ins 3'UTR variant I 51463820 51463828 1 35 535.702 - - 7 1 1 TRIM9|CCDS45105.1|r.3315_3316insc|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 TRIM9|CCDS45105.1|r.3315_3316insc|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 6 7 8 28 28 30 29 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759955089 14 51630723 CA C 300 PASS - - - - - Del - D 51630723 51630733 1 10 271.463 - - 9 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 1 4 3 5 40 17 40 17 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759955156 14 51784562 TA T 360 PASS - - - - - Del - D 51784562 51784569 1 15 325.756 - - 6 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 2 5 5 22 21 22 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759955284 14 52183713 AT A 300 PASS FRMD6 CCDS9704.1 r.? - - Del intronic D 52183713 52183722 1 6 271.463 - - 8 1 1 FRMD6|CCDS9704.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD6|CCDS9704.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 0 5 1 5 19 24 19 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759955307 14 52282689 TA T 420 PASS AL079307.3 ENST00000504267 r.? - - Del intronic D 52282689 52282694 1 14 379.447 - - 4 1 1 AL079307.3|ENST00000504267|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL079307.3|ENST00000504267|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 1 6 2 7 14 32 14 32 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759955374 14 52481918 CG C 420 PASS NID2 CCDS9706.1 r.3103delC c.3103delC p.R1035fs*67 Del frameshift D 52481918 52481925 1 18 380.049 - - 6 1 1 NID2|CCDS9706.1|r.3103delC|c.3103delC|p.R1035fs*67|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 NID2|CCDS9706.1|r.3103delC|c.3103delC|p.R1035fs*67|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 2 6 4 27 27 27 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759955514 14 52871729 GT G 360 PASS - - - - - Del - D 52871729 52871737 1 15 325.756 - - 7 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 2 4 5 7 33 30 33 30 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759955923 14 54002766 AT A 300 PASS - - - - - Del - D 54002766 54002775 1 12 271.463 - - 8 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 3 3 4 21 17 21 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759955946 14 54110858 CT C 360 PASS - - - - - Del - D 54110858 54110868 1 15 325.756 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 2 5 2 26 22 26 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759956170 14 54842697 AT A 360 PASS - - - - - Del - D 54842697 54842707 1 16 325.154 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 3 6 5 24 22 24 22 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759956178 14 54872385 CT C 360 PASS CDKN3 CCDS9716.1 r.? - - Del intronic D 54872385 54872394 1 15 325.756 - - 8 1 1 CDKN3|CCDS9716.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDKN3|CCDS9716.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 2 5 5 22 24 22 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759956194 14 54938298 CT C 360 PASS GMFB CCDS9718.1 r.? - - Del downstream D 54938298 54938307 1 15 321.541 - - 8 1 1 GMFB|CCDS9718.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 GMFB|CCDS9718.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 4 2 5 24 23 24 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759956195 14 54942812 CA C 480 PASS GMFB CCDS9718.1 r.2518delU c.? p.? Del 3'UTR variant D 54942812 54942818 1 24 434.341 - - 5 1 1 GMFB|CCDS9718.1|r.2518delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 GMFB|CCDS9718.1|r.2518delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 5 5 6 21 27 21 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759956369 14 55546383 GT G 300 PASS - - - - - Del - D 55546383 55546393 1 12 270.861 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 2 3 4 19 25 19 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759956533 14 56035860 GA G 300 PASS - - - - - Del - D 56035860 56035870 1 10 271.463 - - 9 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 1 4 2 5 10 26 10 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759956594 14 56204018 AT A 300 PASS - - - - - Del - D 56204018 56204027 1 12 271.463 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 4 6 26 28 26 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759956851 14 57078727 TA T 360 PASS C14orf101 CCDS9727.2 r.? - - Del intronic D 57078727 57078735 1 12 325.756 - - 7 1 1 C14orf101|CCDS9727.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C14orf101|CCDS9727.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 1 5 5 20 22 20 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759956867 14 57115954 GA G 360 PASS C14orf101 CCDS9727.2 r.3986delA c.? p.? Del 3'UTR variant D 57115954 57115962 1 7 325.756 - - 7 1 1 C14orf101|CCDS9727.2|r.3986delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 C14orf101|CCDS9727.2|r.3986delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 10 10 10 0 0 ./. 0 6 1 6 14 23 14 23 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759956895 14 57195297 AT A 300 PASS - - - - - Del - D 57195297 57195305 1 6 271.463 - - 7 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 0 5 1 7 3 25 3 25 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759957021 14 57533242 TA T 480 PASS - - - - - Del - D 57533242 57533251 1 21 434.341 - - 8 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 6 3 9 21 30 21 30 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759957153 14 58118435 A AGT 600 PASS - - - - - Ins - I 58118435 58118449 2 35 530.885 - - 6 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 4 6 4 31 25 31 25 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759957237 14 58464772 TTCC T 509 PASS - - - - - Del - D 58464772 58464783 3 30 488.634 - - 3 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 5 4 8 32 39 32 39 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759957378 14 58806929 CT C 420 PASS ARID4A CCDS9732.1 r.? - - Del intronic D 58806929 58806939 1 18 379.447 - - 9 1 1 ARID4A|CCDS9732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARID4A|CCDS9732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 5 4 8 26 22 26 22 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759957442 14 58983537 CA C 360 PASS KIAA0586 CCDS45115.1 r.? - - Del intronic D 58983537 58983547 1 12 325.756 - - 9 1 1 KIAA0586|CCDS45115.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0586|CCDS45115.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 1 7 1 26 19 26 19 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759957443 14 58998751 CG C 300 PASS KIAA0586 CCDS45115.1 r.? - - Del intronic D 58998751 58998758 1 12 271.463 - - 6 1 1 KIAA0586|CCDS45115.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0586|CCDS45115.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 3 2 11 3 33 21 33 21 11 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759957641 14 59681450 A AT 420 PASS DAAM1 CCDS9737.1 r.? - - Ins intronic I 59681450 59681460 1 18 374.028 - - 9 1 1 DAAM1|CCDS9737.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 DAAM1|CCDS9737.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 5 2 7 30 30 30 31 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759957675 14 59800067 GA G 360 PASS DAAM1 CCDS9737.1 r.? - - Del intronic D 59800067 59800075 1 15 325.756 - - 7 1 1 DAAM1|CCDS9737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAAM1|CCDS9737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 2 4 4 26 18 26 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759957764 14 60075633 TA T 329 PASS RTN1 CCDS9740.1 r.? - - Del intronic D 60075633 60075643 1 15 325.756 - - 9 1 1 RTN1|CCDS9740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RTN1|CCDS9740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 4 4 7 22 26 22 26 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759957809 14 60242101 CT C 300 PASS RTN1 CCDS9740.1 r.? - - Del intronic D 60242101 60242111 1 6 271.463 - - 9 1 1 RTN1|CCDS9740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RTN1|CCDS9740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 0 5 1 5 23 31 23 31 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759957930 14 60790106 TG T 420 PASS - - - - - Del - D 60790106 60790111 1 18 378.844 - - 4 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 2 5 2 31 19 31 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759958027 14 61149989 CG C 449 PASS - - - - - Del - D 61149989 61149994 1 24 424.708 - - 4 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 3 5 6 6 26 27 26 27 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759958091 14 61319093 GT G 420 PASS MNAT1 CCDS9750.1 r.? - - Del intronic D 61319093 61319102 1 18 380.049 - - 8 1 1 MNAT1|CCDS9750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MNAT1|CCDS9750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 2 10 5 34 33 34 33 10 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759958124 14 61444961 AT A 480 PASS TRMT5 CCDS32092.1 r.? - - Del intronic D 61444961 61444969 1 16 434.341 - - 7 1 1 TRMT5|CCDS32092.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRMT5|CCDS32092.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 1 7 1 8 12 32 12 32 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759958424 14 62294354 A AT 300 PASS - - - - - Ins - I 62294354 62294364 1 10 268.453 - - 9 1 1 - - ./. 0 0 0 0 9 21 9 21 0 0 ./. 1 4 1 5 2 23 2 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759958488 14 62565877 CTT C 360 PASS SYT16 CCDS45121.1 r.? - - Del intronic D 62565877 62565881 2 16 323.348 - - 3 1 1 SYT16|CCDS45121.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYT16|CCDS45121.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 3 3 7 28 25 28 25 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759958579 14 62919484 GA G 300 PASS - - - - - Del - D 62919484 62919494 1 10 271.463 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 1 5 1 17 6 17 6 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759958876 14 64248196 CT C 300 PASS - - - - - Del - D 64248196 64248206 1 10 270.259 - - 9 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 1 4 1 5 1 28 1 28 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759958898 14 64292590 CA C 360 PASS - - - - - Del - D 64292590 64292599 1 15 325.756 - - 8 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 4 3 4 33 24 33 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759959232 14 65559813 GA G 300 PASS MAX CCDS9773.1 r.? - - Del intronic D 65559813 65559818 1 10 271.463 - - 4 1 1 MAX|CCDS9773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAX|CCDS9773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 4 1 5 17 21 17 21 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759959335 14 65867602 CA C 420 PASS - - - - - Del - D 65867602 65867612 1 20 378.242 - - 9 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 4 3 5 20 25 20 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759959982 14 68464386 AT A 420 PASS RAD51L1 CCDS9789.1 r.? - - Del intronic D 68464386 68464392 1 20 380.049 - - 5 1 1 RAD51L1|CCDS9789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAD51L1|CCDS9789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 4 3 4 19 16 19 16 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759960193 14 69321042 A AC 300 PASS - - - - - Ins - I 69321042 69321048 1 12 267.249 - - 5 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 3 3 19 22 20 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759960368 14 69899766 GT G 300 PASS SLC39A9 CCDS9795.1 r.? - - Del intronic D 69899766 69899775 1 6 271.463 - - 8 1 1 SLC39A9|CCDS9795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC39A9|CCDS9795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 0 5 1 5 2 21 2 21 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759960436 14 70157643 CT C 360 PASS KIAA0247 CCDS9796.1 r.? - - Del intronic D 70157643 70157648 1 15 325.756 - - 4 1 1 KIAA0247|CCDS9796.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0247|CCDS9796.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 2 4 4 4 23 21 23 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759960483 14 70311199 GA G 300 PASS - - - - - Del - D 70311199 70311206 1 10 270.861 - - 6 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 1 4 2 10 18 20 18 20 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759960520 14 70475854 GT G 420 PASS SMOC1 CCDS32110.1 r.? - - Del intronic D 70475854 70475863 1 18 380.049 - - 8 1 1 SMOC1|CCDS32110.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMOC1|CCDS32110.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 2 8 5 31 31 31 31 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759960961 14 71849373 GT G 300 PASS - - - - - Del - D 71849373 71849383 1 12 271.463 - - 9 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 2 4 3 29 22 29 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759961083 14 72325847 C CA 360 PASS - - - - - Ins - I 72325847 72325856 1 15 322.144 - - 8 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 2 4 2 21 22 21 23 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759961156 14 72544348 CT C 600 PASS RGS6 CCDS9808.1 r.? - - Del intronic D 72544348 72544357 1 35 542.927 - - 8 1 1 RGS6|CCDS9808.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS6|CCDS9808.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 6 4 8 6 21 25 21 25 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759961424 14 73476786 C CA 300 PASS ZFYVE1 CCDS9811.1 r.? - - Ins intronic I 73476786 73476795 1 10 268.453 - - 8 1 1 ZFYVE1|CCDS9811.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFYVE1|CCDS9811.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 9 21 0 0 ./. 4 1 4 2 23 30 23 30 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759961845 14 74480262 ATTC A 509 PASS ENTPD5 CCDS9825.1 r.? - - Del intronic D 74480262 74480275 3 30 488.634 - - 4 1 1 ENTPD5|CCDS9825.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENTPD5|CCDS9825.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 4 6 4 17 18 17 18 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759961940 14 74677200 CA C 420 PASS - - - - - Del - D 74677200 74677210 1 20 379.446 - - 9 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 4 3 7 3 27 19 27 19 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759962024 14 74912099 CA C 360 PASS - - - - - Del - D 74912099 74912107 1 16 325.756 - - 7 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 3 4 3 15 8 15 8 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759962348 14 76024284 CAGAG C 298 PASS - - - - - Del - D 76024284 76024297 4 16 320.939 - - 6 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 3 2 17 12 17 12 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759962378 14 76144915 CT C 480 PASS TTLL5 CCDS32124.1 r.? - - Del intronic D 76144915 76144925 1 25 434.341 - - 9 1 1 TTLL5|CCDS32124.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTLL5|CCDS32124.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 4 5 5 23 22 23 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759962565 14 76909508 T TA 360 PASS ESRRB CCDS9850.1 r.? - - Ins intronic I 76909508 76909517 1 15 322.144 - - 8 1 1 ESRRB|CCDS9850.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ESRRB|CCDS9850.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 8 15 8 0 0 ./. 4 2 5 2 20 11 21 11 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759962830 14 77521010 T TG 329 PASS AC007686.1 ENST00000500215 r.? - - Ins intronic I 77521010 77521019 1 16 318.531 - - 8 1 1 AC007686.1|ENST00000500215|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC007686.1|ENST00000500215|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 3 3 4 24 17 24 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759963203 14 78331660 TA T 540 PASS ADCK1 CCDS9869.1 r.? - - Del intronic D 78331660 78331669 1 30 488.634 - - 8 1 1 ADCK1|CCDS9869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCK1|CCDS9869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 20 9 20 0 0 ./. 4 5 7 7 25 32 25 32 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759963359 14 78897998 GA G 300 PASS - - - - - Del - D 78897998 78898008 1 12 271.463 - - 9 1 1 - - ./. 0 0 0 0 3 16 3 16 0 0 ./. 2 3 2 5 14 26 14 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759963362 14 78905512 TA T 300 PASS - - - - - Del - D 78905512 78905521 1 12 271.463 - - 8 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 2 5 2 26 21 26 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759963832 14 80939600 C CG 600 PASS - - - - - Ins - I 80939600 80939608 1 36 534.498 - - 7 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 5 6 6 25 23 26 23 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759963893 14 81240633 TA T 420 PASS C14orf145 CCDS32130.1 r.? - - Del intronic D 81240633 81240642 1 18 380.049 - - 8 1 1 C14orf145|CCDS32130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C14orf145|CCDS32130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 5 4 6 16 25 16 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759963948 14 81548636 TTA T 480 PASS TSHR CCDS9872.1 r.? - - Del intronic D 81548636 81548640 2 25 434.341 - - 1 1 1 TSHR|CCDS9872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSHR|CCDS9872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 4 6 5 24 11 24 11 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759964145 14 82517309 GT G 300 PASS - - - - - Del - D 82517309 82517318 1 10 271.463 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 4 1 4 22 27 22 27 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759964167 14 82612500 TA T 420 PASS - - - - - Del - D 82612500 82612503 1 20 378.242 - - 2 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 3 4 6 12 24 12 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759964417 14 83659317 CT C 480 PASS - - - - - Del - D 83659317 83659325 1 24 434.341 - - 7 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 5 5 6 26 19 26 19 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759964477 14 83929861 TA T 420 PASS - - - - - Del - D 83929861 83929868 1 18 380.049 - - 6 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 5 4 9 16 25 16 25 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759964666 14 84675747 GC G 269 PASS - - - - - Del - D 84675747 84675756 1 10 271.463 - - 8 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 4 6 5 26 21 26 21 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759964773 14 85082339 T TCAA 360 PASS - - - - - Ins - I 85082339 85082364 3 15 314.919 - - 8 1 - - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 2 5 3 23 21 23 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759964907 14 85620255 CT C 360 PASS - - - - - Del - D 85620255 85620264 1 12 325.756 - - 8 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 5 1 5 1 16 19 16 19 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759965152 14 86426139 GT G 420 PASS - - - - - Del - D 86426139 86426148 1 20 380.049 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 3 4 3 18 8 18 8 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759965219 14 86660276 AT A 300 PASS - - - - - Del - D 86660276 86660286 1 10 271.463 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 1 4 1 26 5 26 5 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759965258 14 86736687 AT A 473 PASS - - - - - Del - D 86736687 86736695 1 24 434.341 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 3 7 3 24 3 24 3 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759965344 14 86965139 T TA 300 PASS - - - - - Ins - I 86965139 86965149 1 10 268.453 - - 9 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 1 5 1 27 5 27 6 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759965349 14 86989535 A AT 480 PASS - - - - - Ins - I 86989535 86989541 1 21 429.525 - - 5 1 - - - ./. 0 0 0 0 15 9 15 10 0 0 ./. 6 2 6 2 26 10 26 10 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759965411 14 87191013 CT C 300 PASS - - - - - Del - D 87191013 87191020 1 10 271.463 - - 6 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 4 1 4 1 15 10 15 10 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759965511 14 87591744 CT C 358 PASS - - - - - Del - D 87591744 87591752 1 20 379.446 - - 7 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 3 4 3 12 18 12 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759965582 14 87981730 GA G 360 PASS - - - - - Del - D 87981730 87981740 1 12 320.939 - - 9 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 1 5 2 6 5 24 5 24 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759965911 14 89208074 CA C 300 PASS EML5 CCDS45148.1 r.? - - Del intronic D 89208074 89208082 1 6 271.463 - - 7 1 1 EML5|CCDS45148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EML5|CCDS45148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 0 5 0 7 0 22 0 22 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759966453 14 90839515 TA T 269 PASS - - - - - Del - D 90839515 90839525 1 12 271.463 - - 9 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 2 3 3 4 21 14 21 14 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759967033 14 92630061 GT G 600 PASS CPSF2 CCDS9902.1 r.4560delU c.? p.? Del 3'UTR variant D 92630061 92630071 1 32 541.722 - - 9 1 1 CPSF2|CCDS9902.1|r.4560delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CPSF2|CCDS9902.1|r.4560delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 7 8 7 26 24 26 24 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759967291 14 93435732 TG T 300 PASS ITPK1 CCDS9907.1 r.? - - Del intronic D 93435732 93435740 1 10 270.259 - - 7 1 1 ITPK1|CCDS9907.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITPK1|CCDS9907.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 1 4 1 23 20 23 20 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759967462 14 94125648 GT G 420 PASS KIAA1409 CCDS9911.2 r.? - - Del intronic D 94125648 94125657 1 20 380.049 - - 8 1 1 KIAA1409|CCDS9911.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1409|CCDS9911.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 4 3 4 19 11 19 11 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759967465 14 94139525 CA C 360 PASS KIAA1409 CCDS9911.2 r.? - - Del intronic D 94139525 94139531 1 15 325.756 - - 5 1 1 KIAA1409|CCDS9911.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1409|CCDS9911.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 4 2 4 26 26 26 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759967472 14 94180782 TC T 480 PASS PRIMA1 CCDS9912.1 r.? - - Del downstream D 94180782 94180789 1 25 434.341 - - 6 1 1 PRIMA1|CCDS9912.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PRIMA1|CCDS9912.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 4 5 4 23 22 23 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759967516 14 94365403 GA G 360 PASS - - - - - Del - D 94365403 94365408 1 12 325.154 - - 4 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 5 1 8 3 32 19 32 19 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759967893 14 95697923 CA C 300 PASS CLMN CCDS9933.1 r.? - - Del intronic D 95697923 95697929 1 10 271.463 - - 5 1 1 CLMN|CCDS9933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLMN|CCDS9933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 7 2 30 19 30 19 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759968320 14 97046279 AG A 480 PASS - - - - - Del - D 97046279 97046284 1 25 434.341 - - 4 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 4 6 5 23 26 23 26 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759968593 14 98133377 A AT 300 PASS ENSG00000197176 ENST00000355909 r.? - - Ins intronic I 98133377 98133382 1 12 268.453 - - 4 1 1 ENSG00000197176|ENST00000355909|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENSG00000197176|ENST00000355909|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 3 3 3 21 30 21 30 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759968995 14 99610817 AT A 420 PASS - - - - - Del - D 99610817 99610824 1 18 380.049 - - 6 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 2 8 5 27 25 27 25 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759969112 14 100031694 AC A 600 PASS CCDC85C CCDS45161.1 r.? - - Del intronic D 100031694 100031700 1 32 542.324 - - 5 1 1 CCDC85C|CCDS45161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC85C|CCDS45161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 3 7 4 8 22 37 22 37 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759969269 14 100429262 AT A 420 PASS - - - - - Del - D 100429262 100429272 1 18 380.049 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 2 6 3 14 16 14 16 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759969761 14 102291606 T TA 269 PASS PPP2R5C CCDS9964.1 r.? - - Ins intronic I 102291606 102291614 1 10 261.228 - - 7 1 1 PPP2R5C|CCDS9964.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPP2R5C|CCDS9964.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 4 3 4 13 17 13 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759969768 14 102324180 AT A 420 PASS PPP2R5C CCDS9964.1 r.? - - Del intronic D 102324180 102324190 1 14 377.64 - - 9 1 1 PPP2R5C|CCDS9964.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP2R5C|CCDS9964.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 6 3 7 17 29 17 29 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759969823 14 102528273 GA G 498 PASS - - - - - Del - D 102528273 102528283 1 28 487.43 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 6 4 7 25 29 25 29 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759969893 14 102698844 G GC 600 PASS RAGE CCDS9971.1 r.? - - Ins intronic I 102698844 102698849 1 35 536.906 - - 4 1 1 RAGE|CCDS9971.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAGE|CCDS9971.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 6 6 7 18 30 18 31 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759970021 14 103037949 AT A 300 PASS - - - - - Del - D 103037949 103037956 1 10 271.463 - - 6 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 1 4 1 7 1 31 1 31 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759970145 14 103436335 AC A 420 PASS ENSG00000198752 CCDS9978.1 r.? - - Del intronic D 103436335 103436342 1 18 380.049 - - 6 1 1 ENSG00000198752|CCDS9978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000198752|CCDS9978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 2 6 2 23 29 23 29 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759970267 14 103813734 CA C 600 PASS EIF5 CCDS9980.1 r.? - - Del downstream D 103813734 103813744 1 36 542.927 - - 9 1 1 EIF5|CCDS9980.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 EIF5|CCDS9980.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 5 7 7 31 26 31 26 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759970624 14 104724769 GA G 300 PASS - - - - - Del - D 104724769 104724779 1 12 271.463 - - 9 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 2 5 2 18 21 18 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759970766 14 105420133 TC T 300 PASS AHNAK2 CCDS45177.1 r.1774delG c.1654delG p.D552fs*29 Del frameshift D 105420133 105420139 1 12 271.463 - - 5 1 1 AHNAK2|CCDS45177.1|r.1774delG|c.1654delG|p.D552fs*29|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 AHNAK2|CCDS45177.1|r.1774delG|c.1654delG|p.D552fs*29|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 5 3 24 22 24 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759970838 14 105607960 TG T 300 PASS JAG2 CCDS9998.1 r.5192delC c.? p.? Del 3'UTR variant D 105607960 105607964 1 12 268.453 - - 3 1 1 JAG2|CCDS9998.1|r.5192delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 JAG2|CCDS9998.1|r.5192delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 5 8 5 0 0 ./. 2 3 3 4 20 16 20 16 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759971033 14 106429002 AT A 336 PASS - - - - - Del - D 106429002 106429012 1 15 325.756 - - 9 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 4 5 5 19 17 19 17 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759971068 14 106497385 CA C 420 PASS - - - - - Del - D 106497385 106497394 1 18 380.049 - - 8 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 2 6 3 17 8 17 8 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759971890 15 20394609 GA G 323 PASS - - - - - Del - D 20394609 20394619 1 16 324.482 - - 9 1 1 - - ./. 0 0 0 0 33 18 33 18 0 0 ./. 3 3 4 5 33 51 33 51 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759971916 15 20423027 CA C 300 PASS - - - - - Del - D 20423027 20423036 1 10 271.405 - - 8 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 1 4 2 4 10 29 10 29 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759972606 15 22421257 AC A 323 PASS - - - - - Del - D 22421257 22421263 1 15 325.687 - - 5 1 1 - - ./. 0 0 0 0 23 5 23 5 0 0 ./. 2 4 6 4 31 37 31 37 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759972782 15 22838106 CT C 358 PASS TUBGCP5 CCDS10008.1 r.? - - Del intronic D 22838106 22838116 1 20 378.764 - - 9 1 1 TUBGCP5|CCDS10008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TUBGCP5|CCDS10008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 4 3 6 27 26 27 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759972954 15 23171186 TA T 329 PASS - - - - - Del - D 23171186 23171196 1 16 325.085 - - 9 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 3 4 4 20 21 20 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759973456 15 24677339 C CA 478 PASS - - - - - Ins - I 24677339 24677346 1 28 481.907 - - 6 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 6 3 8 6 35 20 36 20 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759973514 15 24824445 GA G 480 PASS - - - - - Del - D 24824445 24824453 1 16 434.249 - - 7 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 1 7 1 8 18 25 18 25 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759973526 15 24898861 GA G 269 PASS - - - - - Del - D 24898861 24898871 1 6 271.405 - - 9 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 0 5 0 6 5 24 5 24 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759973676 15 25365521 AT A 447 PASS - - - - - Del - D 25365521 25365527 1 28 488.53 - - 5 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 6 4 6 19 26 19 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759974124 15 26667684 G GC 480 PASS - - - - - Ins - I 26667684 26667691 1 21 429.432 - - 6 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 6 3 6 22 39 22 41 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759974181 15 26805993 G GA 540 PASS GABRB3 CCDS10019.1 r.? - - Ins intronic I 26805993 26806000 1 30 483.111 - - 6 1 1 GABRB3|CCDS10019.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GABRB3|CCDS10019.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 5 5 5 23 37 23 37 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759974385 15 27319488 A AAG 360 PASS GABRG3 CCDS45195.1 r.? - - Ins intronic I 27319488 27319499 2 12 318.462 - - 5 1 1 GABRG3|CCDS45195.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GABRG3|CCDS45195.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 5 19 6 0 0 ./. 5 1 6 1 19 22 19 23 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759974471 15 27706428 CT C 300 PASS GABRG3 CCDS45195.1 r.? - - Del intronic D 27706428 27706438 1 12 271.405 - - 9 1 1 GABRG3|CCDS45195.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GABRG3|CCDS45195.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 2 3 4 3 29 33 29 33 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759974705 15 28489310 CA C 420 PASS HERC2 CCDS10021.1 r.? - - Del intronic D 28489310 28489320 1 20 379.968 - - 9 1 1 HERC2|CCDS10021.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HERC2|CCDS10021.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 3 7 5 22 25 22 25 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759974872 15 29241682 G GT 389 PASS APBA2 CCDS10022.1 r.? - - Ins intronic I 29241682 29241690 1 20 374.549 - - 7 1 1 APBA2|CCDS10022.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 APBA2|CCDS10022.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 6 16 6 0 0 ./. 3 4 7 6 26 27 26 27 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759974878 15 29258576 TG T 360 PASS APBA2 CCDS10022.1 r.? - - Del intronic D 29258576 29258583 1 12 325.687 - - 6 1 1 APBA2|CCDS10022.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 APBA2|CCDS10022.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 1 5 1 6 15 27 15 27 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759974926 15 29458781 CA C 540 PASS FAM189A1 CCDS45198.1 r.? - - Del intronic D 29458781 29458789 1 30 488.53 - - 7 1 1 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 4 6 7 20 27 20 27 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759975000 15 29667132 GT G 420 PASS FAM189A1 CCDS45198.1 r.? - - Del intronic D 29667132 29667141 1 20 379.968 - - 8 1 1 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 4 4 4 18 24 18 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759975072 15 29854946 A ATG 480 PASS FAM189A1 CCDS45198.1 r.? - - Ins intronic I 29854946 29854958 2 21 423.412 - - 5 1 - FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 20 11 21 0 0 ./. 2 6 4 8 26 38 26 38 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759975167 15 30058438 G GA 420 PASS TJP1 CCDS42007.1 r.? - - Ins intronic I 30058438 30058446 1 18 375.753 - - 7 1 1 TJP1|CCDS42007.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TJP1|CCDS42007.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 5 4 5 28 31 29 31 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759975316 15 30778981 GT G 406 PASS ENSG00000215302 ENST00000399971 r.? - - Del downstream D 30778981 30778991 1 20 379.968 - - 9 1 1 ENSG00000215302|ENST00000399971|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000215302|ENST00000399971|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 7 16 7 0 0 ./. 4 3 6 7 24 34 24 34 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759975432 15 31293355 CT C 300 PASS TRPM1 CCDS10024.2 r.5595delA c.? p.? Del 3'UTR variant D 31293355 31293363 1 12 271.405 - - 7 1 1 TRPM1|CCDS10024.2|r.5595delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TRPM1|CCDS10024.2|r.5595delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 6 5 26 30 26 30 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759975563 15 31679727 C CA 300 PASS - - - - - Ins - I 31679727 31679734 1 12 268.395 - - 6 1 1 - - ./. 0 0 0 0 17 7 18 7 0 0 ./. 2 3 2 3 19 20 19 22 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759975611 15 31791387 AT A 420 PASS OTUD7A CCDS10026.1 r.? - - Del intronic D 31791387 31791394 1 18 379.968 - - 6 1 1 OTUD7A|CCDS10026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OTUD7A|CCDS10026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 5 3 6 28 30 28 30 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759975758 15 32164727 AT A 300 PASS - - - - - Del - D 32164727 32164735 1 10 267.793 - - 7 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 1 4 1 5 17 36 17 36 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759976028 15 33154786 G GT 480 PASS FMN1 CCDS45209.1 r.? - - Ins intronic I 33154786 33154793 1 21 429.432 - - 6 1 1 FMN1|CCDS45209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMN1|CCDS45209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 2 7 4 31 16 31 16 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759976119 15 33372079 T TA 420 PASS FMN1 ENST00000414268 r.? - - Ins intronic I 33372079 33372086 1 18 375.753 - - 6 1 1 FMN1|ENST00000414268|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMN1|ENST00000414268|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 6 19 6 0 0 ./. 5 2 5 5 26 33 26 33 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759976232 15 33677492 CT C 480 PASS RYR3 CCDS45210.1 r.? - - Del intronic D 33677492 33677502 1 21 434.249 - - 9 1 1 RYR3|CCDS45210.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR3|CCDS45210.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 2 6 3 25 24 25 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759976482 15 34272224 G GA 480 PASS CHRM5 CCDS10031.1 r.? - - Ins intronic I 34272224 34272233 1 21 429.432 - - 8 1 1 CHRM5|CCDS10031.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CHRM5|CCDS10031.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 13 15 0 0 ./. 2 6 4 6 29 21 29 21 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977023 15 35731252 CT C 300 PASS ATPBD4 CCDS10043.1 r.? - - Del intronic D 35731252 35731258 1 12 271.405 - - 5 1 1 ATPBD4|CCDS10043.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATPBD4|CCDS10043.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 2 4 3 18 15 18 15 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977063 15 35879061 AT A 420 PASS AC068867.1 ENST00000501169 r.? - - Del intronic D 35879061 35879071 1 8 378.161 - - 9 1 1 AC068867.1|ENST00000501169|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC068867.1|ENST00000501169|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 0 7 0 9 4 24 4 24 0 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977108 15 36064697 A AT 360 PASS AC068867.1 ENST00000501169 r.? - - Ins intronic I 36064697 36064705 1 12 322.074 - - 7 1 1 AC068867.1|ENST00000501169|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC068867.1|ENST00000501169|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 1 6 1 39 21 40 22 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977333 15 36822793 TA T 300 PASS - - - - - Del - D 36822793 36822802 1 12 268.395 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 3 3 7 29 27 29 27 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977530 15 37298336 AT A 360 PASS MEIS2 CCDS45217.1 r.? - - Del intronic D 37298336 37298345 1 15 325.687 - - 8 1 1 MEIS2|CCDS45217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MEIS2|CCDS45217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 4 2 4 25 19 25 19 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977579 15 37466893 G GA 420 PASS - - - - - Ins - I 37466893 37466901 1 18 375.753 - - 7 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 2 5 2 6 19 29 19 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977586 15 37513087 GA G 360 PASS - - - - - Del - D 37513087 37513096 1 16 325.687 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 3 4 30 25 30 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977669 15 37830948 CA C 540 PASS - - - - - Del - D 37830948 37830958 1 24 488.53 - - 9 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 7 2 8 4 28 19 28 19 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977701 15 37910002 AT A 360 PASS - - - - - Del - D 37910002 37910010 1 12 325.687 - - 7 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 5 2 6 23 23 23 23 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977743 15 38113780 CA C 420 PASS - - - - - Del - D 38113780 38113790 1 14 379.968 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 6 1 7 19 31 19 31 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977750 15 38128522 TA T 300 PASS - - - - - Del - D 38128522 38128530 1 10 271.405 - - 7 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 5 1 18 7 18 7 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977780 15 38205744 T TA 360 PASS - - - - - Ins - I 38205744 38205754 1 12 319.064 - - 9 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 1 5 2 7 24 27 24 27 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759977929 15 38648129 GA G 300 PASS SPRED1 CCDS32193.1 r.5935delA c.? p.? Del 3'UTR variant D 38648129 38648139 1 12 271.405 - - 9 1 1 SPRED1|CCDS32193.1|r.5935delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SPRED1|CCDS32193.1|r.5935delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 3 3 3 14 30 14 30 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759978417 15 40069135 CT C 360 PASS FSIP1 CCDS10050.1 r.? - - Del intronic D 40069135 40069145 1 16 325.687 - - 9 1 1 FSIP1|CCDS10050.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FSIP1|CCDS10050.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 3 4 4 28 23 28 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759978628 15 40713739 GT G 300 PASS IVD CCDS10057.1 r.? - - Del downstream D 40713739 40713746 1 12 271.405 - - 6 1 1 IVD|CCDS10057.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 IVD|ENST00000473112|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 3 2 4 3 22 26 22 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759978701 15 40864278 CA C 360 PASS RPUSD2 CCDS10061.1 r.? - - Del intronic D 40864278 40864286 1 16 325.687 - - 7 1 1 RPUSD2|CCDS10061.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPUSD2|CCDS10061.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 3 4 3 21 21 21 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759978829 15 41119955 CA C 420 PASS PPP1R14D CCDS45230.1 r.? - - Del intronic D 41119955 41119965 1 20 379.968 - - 9 1 1 PPP1R14D|CCDS45230.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R14D|CCDS45230.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 3 6 4 18 20 18 20 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759978892 15 41258355 G GA 420 PASS - - - - - Ins - I 41258355 41258363 1 18 375.151 - - 7 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 5 3 7 22 30 23 30 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759978903 15 41269834 G GA 360 PASS INO80 CCDS10071.1 r.? - - Ins downstream I 41269834 41269841 1 16 322.074 - - 6 1 1 INO80|CCDS10071.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 INO80|CCDS10071.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 5 4 28 26 28 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759978907 15 41278104 TA T 300 PASS INO80 CCDS10071.1 r.? - - Del intronic D 41278104 41278114 1 12 271.405 - - 9 1 1 INO80|CCDS10071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INO80|CCDS10071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 6 4 21 25 21 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759978927 15 41330140 CA C 300 PASS INO80 CCDS10071.1 r.? - - Del intronic D 41330140 41330150 1 12 271.405 - - 9 1 1 INO80|CCDS10071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INO80|CCDS10071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 3 2 3 20 31 20 31 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759978951 15 41385622 C CA 300 PASS INO80 CCDS10071.1 r.? - - Ins intronic I 41385622 41385631 1 12 266.589 - - 8 1 1 INO80|CCDS10071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 INO80|CCDS10071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 12 0 0 ./. 2 3 3 7 29 43 29 45 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759979166 15 41775821 T TC 540 PASS RTF1 CCDS32200.2 r.? - - Ins downstream I 41775821 41775824 1 30 482.509 - - 2 1 1 RTF1|CCDS32200.2|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 RTF1|CCDS32200.2|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 6 7 6 7 0 0 ./. 4 5 9 7 29 26 29 26 9 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759979221 15 41906225 AT A 300 PASS - - - - - Del - D 41906225 41906232 1 10 270.803 - - 6 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 4 2 4 12 26 12 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759979249 15 41968863 GT G 300 PASS MGA ENST00000219905 r.? - - Del intronic D 41968863 41968871 1 12 271.405 - - 7 1 1 MGA|ENST00000219905|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MGA|ENST00000219905|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 3 2 7 10 28 10 28 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759979360 15 42323334 TA T 360 PASS PLA2G4E ENST00000399518 r.? - - Del intronic D 42323334 42323344 1 15 325.687 - - 9 1 1 PLA2G4E|ENST00000399518|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLA2G4E|ENST00000399518|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 4 5 7 32 28 32 28 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759979509 15 42800929 CT C 360 PASS SNAP23 CCDS10087.1 r.? - - Del intronic D 42800929 42800939 1 16 325.687 - - 9 1 1 SNAP23|CCDS10087.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SNAP23|CCDS10087.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 3 4 4 15 22 15 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759979619 15 43179928 CT C 600 PASS TTBK2 CCDS42029.1 r.? - - Del intronic D 43179928 43179937 1 32 542.811 - - 8 1 1 TTBK2|CCDS42029.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TTBK2|CCDS42029.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 3 8 3 32 30 32 30 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759979961 15 44371446 CA C 360 PASS FRMD5 CCDS10107.2 r.? - - Del intronic D 44371446 44371456 1 15 325.085 - - 9 1 1 FRMD5|CCDS10107.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD5|CCDS10107.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 4 3 5 24 31 24 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759980117 15 44765502 C CT 360 PASS CTDSPL2 CCDS10110.1 r.? - - Ins intronic I 44765502 44765512 1 15 319.064 - - 9 1 1 CTDSPL2|CCDS10110.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTDSPL2|CCDS10110.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 2 6 3 25 30 25 30 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759980135 15 44826254 A AT 300 PASS EIF3J CCDS10111.1 r.? - - Ins upstream I 44826254 44826264 1 12 268.395 - - 9 1 1 EIF3J|CCDS10111.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 EIF3J|CCDS10111.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 14 13 15 0 0 ./. 2 3 4 6 29 26 29 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759980569 15 46421892 G GT 300 PASS - - - - - Ins - I 46421892 46421901 1 12 268.395 - - 8 1 1 - - ./. 0 0 0 0 18 14 19 14 0 0 ./. 3 2 5 3 30 29 30 29 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759980579 15 46437556 GT G 360 PASS - - - - - Del - D 46437556 46437561 1 15 325.687 - - 4 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 2 5 4 31 13 31 13 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759980938 15 47681874 GA G 360 PASS - - - - - Del - D 47681874 47681882 1 16 325.687 - - 7 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 3 4 4 30 24 30 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759980962 15 47741954 AT A 360 PASS - - - - - Del - D 47741954 47741961 1 12 325.687 - - 6 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 1 5 2 5 10 29 10 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759980984 15 47817113 CA C 420 PASS - - - - - Del - D 47817113 47817121 1 20 379.968 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 4 5 9 34 32 34 32 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759981000 15 47878969 AC A 300 PASS - - - - - Del - D 47878969 47878976 1 12 271.405 - - 6 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 2 3 2 4 25 19 25 19 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759981014 15 47919013 GA G 360 PASS - - - - - Del - D 47919013 47919023 1 16 322.676 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 3 5 4 23 32 23 32 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759981190 15 48752699 GA G 300 PASS FBN1 CCDS32232.1 r.? - - Del intronic D 48752699 48752707 1 12 271.405 - - 7 1 1 FBN1|CCDS32232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBN1|CCDS32232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 4 3 32 21 32 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759981658 15 50465069 GC G 295 PASS - - - - - Del - D 50465069 50465074 1 16 320.268 - - 4 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 3 3 5 26 29 26 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759982211 15 51706451 TA T 300 PASS - - - - - Del - D 51706451 51706460 1 10 268.997 - - 8 1 1 - - ./. 0 0 0 0 13 3 13 3 0 0 ./. 1 4 5 4 18 36 18 36 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759982243 15 51869161 TA T 360 PASS DMXL2 CCDS10141.1 r.? - - Del intronic D 51869161 51869166 1 16 325.687 - - 4 1 1 DMXL2|CCDS10141.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMXL2|CCDS10141.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 3 5 5 19 28 19 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759982584 15 52828042 CA C 300 PASS - - - - - Del - D 52828042 52828050 1 10 271.405 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 4 1 7 11 26 11 26 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759982603 15 52871982 AT A 540 PASS KIAA1370 CCDS45263.1 r.? - - Del downstream D 52871982 52871992 1 28 486.122 - - 9 1 1 KIAA1370|CCDS45263.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KIAA1370|CCDS45263.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 6 4 7 22 29 22 29 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759982664 15 53102827 AT A 360 PASS - - - - - Del - D 53102827 53102837 1 7 325.687 - - 9 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 6 0 6 1 26 29 26 29 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759982698 15 53211849 TA T 300 PASS - - - - - Del - D 53211849 53211858 1 12 271.405 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 3 2 23 12 23 12 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759982759 15 53421265 AT A 360 PASS - - - - - Del - D 53421265 53421274 1 15 325.687 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 2 7 3 33 24 33 24 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759982829 15 53670713 TA T 360 PASS - - - - - Del - D 53670713 53670722 1 7 325.085 - - 8 1 1 - - ./. 0 0 0 0 20 5 20 5 0 0 ./. 0 6 1 7 9 19 9 19 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759982934 15 54050736 CA C 300 PASS WDR72 CCDS10151.1 r.? - - Del intronic D 54050736 54050746 1 6 271.405 - - 9 1 1 WDR72|CCDS10151.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 WDR72|CCDS10151.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 0 5 0 5 22 16 22 16 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983054 15 54393407 CT C 300 PASS UNC13C CCDS45264.1 r.? - - Del intronic D 54393407 54393416 1 12 268.997 - - 8 1 1 UNC13C|CCDS45264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC13C|CCDS45264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 2 3 11 7 11 7 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983087 15 54507194 A AT 360 PASS UNC13C CCDS45264.1 r.? - - Ins intronic I 54507194 54507201 1 16 322.074 - - 6 1 1 UNC13C|CCDS45264.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UNC13C|CCDS45264.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 3 3 3 26 17 26 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983195 15 54907743 CT C 300 PASS UNC13C CCDS45264.1 r.? - - Del intronic D 54907743 54907751 1 10 271.405 - - 7 1 1 UNC13C|CCDS45264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC13C|CCDS45264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 4 1 6 18 34 18 34 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983226 15 54968581 GA G 360 PASS - - - - - Del - D 54968581 54968589 1 7 325.687 - - 7 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 0 6 0 7 3 22 3 22 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983293 15 55071581 CT C 300 PASS - - - - - Del - D 55071581 55071590 1 6 271.405 - - 8 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 5 0 5 1 20 2 20 2 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983346 15 55237521 T TA 257 PASS - - - - - Ins - I 55237521 55237529 1 12 268.395 - - 7 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 3 2 5 4 28 37 28 37 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983453 15 55578708 G GA 300 PASS RAB27A CCDS10153.1 r.? - - Ins intronic I 55578708 55578714 1 10 268.395 - - 5 1 1 RAB27A|CCDS10153.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RAB27A|CCDS10153.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 4 1 9 1 32 26 32 27 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983502 15 55697560 C CA 600 PASS CCPG1 CCDS42039.1 r.? - - Ins intronic I 55697560 55697570 1 32 530.168 - - 9 1 1 CCPG1|CCDS42039.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CCPG1|CCDS42039.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 8 4 9 0 0 ./. 7 3 8 4 28 26 28 26 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983554 15 55810494 CT C 480 PASS - - - - - Del - D 55810494 55810504 1 25 434.249 - - 9 1 - - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 4 4 4 36 20 36 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983567 15 55844003 TA T 300 PASS PYGO1 CCDS10155.1 r.? - - Del intronic D 55844003 55844012 1 12 271.405 - - 8 1 1 PYGO1|CCDS10155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PYGO1|CCDS10155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 4 4 22 14 22 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983744 15 56224361 TAGTG T 474 PASS NEDD4 CCDS45265.1 r.? - - Del intronic D 56224361 56224373 4 25 432.443 - - 2 1 1 NEDD4|CCDS45265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEDD4|CCDS45265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 4 4 4 26 24 26 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983846 15 56495230 CA C 360 PASS RFX7 ENST00000423270 r.? - - Del intronic D 56495230 56495239 1 16 325.687 - - 8 1 1 RFX7|ENST00000423270|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RFX7|ENST00000423270|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 3 3 3 25 26 25 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983870 15 56574301 GA G 300 PASS - - - - - Del - D 56574301 56574307 1 6 271.405 - - 5 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 0 5 0 6 6 17 6 17 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983900 15 56656965 A AT 449 PASS TEX9 CCDS10157.1 r.? - - Ins upstream I 56656965 56656971 1 21 429.432 - - 5 1 1 TEX9|CCDS10157.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 TEX9|CCDS10157.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 2 6 2 37 24 37 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759983969 15 56924284 AT A 300 PASS ZNF280D CCDS32245.1 r.2568delA c.2351delA p.N784fs*20 Del frameshift D 56924284 56924292 1 6 271.405 - - 7 1 1 ZNF280D|CCDS32245.1|r.2568delA|c.2351delA|p.N784fs*20|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ZNF280D|CCDS32245.1|r.2568delA|c.2351delA|p.N784fs*20|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 18 7 18 0 0 ./. 0 5 0 10 15 36 15 36 0 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759984197 15 57617445 AT A 420 PASS - - - - - Del - D 57617445 57617453 1 18 379.968 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 2 5 3 34 22 34 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759984360 15 58106735 TG T 600 PASS - - - - - Del - D 58106735 58106742 1 32 542.209 - - 6 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 3 7 4 7 17 28 17 28 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759984433 15 58426649 AT A 420 PASS AQP9 CCDS10165.1 r.? - - Del upstream D 58426649 58426657 1 20 379.968 - - 7 1 1 AQP9|CCDS10165.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AQP9|CCDS10165.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 4 5 5 24 14 24 14 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759984455 15 58515041 CAT C 720 PASS - - - - - Del - D 58515041 58515045 2 45 651.373 - - 1 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 8 4 8 5 29 25 29 25 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759984531 15 58775953 CT C 600 PASS LIPC CCDS10166.1 r.? - - Del intronic D 58775953 58775960 1 35 542.811 - - 6 1 1 LIPC|CCDS10166.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIPC|CCDS10166.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 6 4 8 5 31 36 31 36 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759984576 15 58945072 AT A 600 PASS ADAM10 CCDS10167.1 r.? - - Del intronic D 58945072 58945080 1 36 535.586 - - 7 1 1 ADAM10|CCDS10167.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM10|CCDS10167.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 5 16 5 0 0 ./. 5 5 6 6 26 25 26 25 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759984599 15 59022157 TA T 300 PASS ADAM10 CCDS10167.1 r.? - - Del intronic D 59022157 59022167 1 10 270.803 - - 9 1 - ADAM10|CCDS10167.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM10|CCDS10167.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 1 5 5 36 33 36 33 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759984869 15 59705954 TA T 420 PASS - - - - - Del - D 59705954 59705963 1 20 379.366 - - 8 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 3 5 4 24 25 24 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759985144 15 60480261 TA T 480 PASS - - - - - Del - D 60480261 60480271 1 24 434.249 - - 9 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 3 6 5 31 31 31 31 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759985257 15 60787280 C CA 360 PASS RORA CCDS10177.1 r.4046_4047insu c.? p.? Ins 3'UTR variant I 60787280 60787288 1 16 322.074 - - 7 1 - RORA|CCDS10177.1|r.4046_4047insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 RORA|CCDS10177.1|r.4046_4047insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 3 5 3 21 19 21 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759985290 15 60890936 CT C 360 PASS RORA CCDS10177.1 r.? - - Del intronic D 60890936 60890941 1 15 325.687 - - 4 1 1 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 7 3 7 0 0 ./. 4 2 5 3 33 7 33 7 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759985355 15 61113159 AC A 480 PASS RORA CCDS10177.1 r.? - - Del intronic D 61113159 61113166 1 24 430.636 - - 6 1 1 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 15 3 15 0 0 ./. 5 3 6 5 18 28 18 28 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759985389 15 61204482 TG T 420 PASS RORA CCDS10177.1 r.? - - Del intronic D 61204482 61204490 1 20 378.161 - - 7 1 1 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 4 2 4 25 11 25 11 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759985562 15 61653955 CT C 314 PASS - - - - - Del - D 61653955 61653964 1 15 325.687 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 4 2 6 29 32 29 32 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759985610 15 61795106 TA T 360 PASS - - - - - Del - D 61795106 61795116 1 16 325.687 - - 9 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 3 4 5 15 38 15 38 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759985656 15 61954654 ATC A 540 PASS - - - - - Del - D 61954654 61954665 2 30 487.326 - - 5 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 5 4 7 20 32 20 32 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759985663 15 62001203 AT A 420 PASS - - - - - Del - D 62001203 62001205 1 20 379.366 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 4 4 5 24 17 24 17 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759985678 15 62061754 GA G 300 PASS - - - - - Del - D 62061754 62061763 1 6 271.405 - - 8 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 5 0 6 0 24 4 24 4 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759985754 15 62319445 TA T 480 PASS VPS13C CCDS32257.1 r.? - - Del intronic D 62319445 62319455 1 24 434.249 - - 9 1 1 VPS13C|CCDS32257.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS13C|CCDS32257.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 5 3 8 6 38 21 38 21 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759986094 15 63252603 GT G 269 PASS - - - - - Del - D 63252603 63252611 1 12 271.405 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 2 4 5 30 24 30 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759986558 15 64434536 AG A 360 PASS SNX1 CCDS32266.1 r.6325delG c.? p.? Del 3'UTR variant D 64434536 64434538 1 16 325.085 - - 1 1 1 SNX1|CCDS32266.1|r.6325delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SNX1|CCDS32266.1|r.6325delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 3 3 4 23 33 23 33 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759986597 15 64558710 GA G 300 PASS CSNK1G1 CCDS10192.2 r.? - - Del intronic D 64558710 64558720 1 12 271.405 - - 9 1 1 CSNK1G1|CCDS10192.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSNK1G1|CCDS10192.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 4 15 4 0 0 ./. 3 2 3 3 26 20 26 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759986705 15 64750423 GA G 540 PASS TRIP4 CCDS10194.1 r.? - - Del downstream D 64750423 64750433 1 30 488.53 - - 9 1 1 TRIP4|CCDS10194.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF609|ENST00000416172|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 5 5 5 5 0 0 ./. 4 5 6 7 30 22 30 22 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759986908 15 65163740 CT C 300 PASS PLEKHO2 CCDS10196.1 r.? - - Del downstream D 65163740 65163750 1 6 271.405 - - 9 1 1 PLEKHO2|CCDS10196.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000249240|ENST00000437723|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 2 12 2 0 0 ./. 5 0 9 0 39 1 39 1 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759987099 15 65626149 TG T 360 PASS IGDCC3 CCDS10205.1 r.? - - Del intronic D 65626149 65626158 1 12 325.687 - - 8 1 1 IGDCC3|CCDS10205.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGDCC3|CCDS10205.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 9 2 9 0 0 ./. 5 1 6 1 21 18 21 18 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759987187 15 65809640 TG T 360 PASS DPP8 CCDS10207.1 r.? - - Del upstream D 65809640 65809648 1 15 325.085 - - 7 1 1 DPP8|CCDS10207.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 DPP8|CCDS10207.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 2 4 2 26 21 26 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759987228 15 65942643 CA C 780 PASS SLC24A1 CCDS45284.1 r.? - - Del intronic D 65942643 65942651 1 54 705.654 - - 7 1 1 SLC24A1|CCDS45284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC24A1|CCDS45284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 8 5 9 7 41 33 41 33 9 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759987284 15 66087162 CT C 300 PASS DENND4A CCDS45285.1 r.? - - Del upstream D 66087162 66087172 1 10 270.201 - - 9 1 1 DENND4A|CCDS45285.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 DENND4A|CCDS45285.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 4 9 4 0 0 ./. 1 4 1 4 16 30 16 30 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759987357 15 66327381 TA T 360 PASS MEGF11 CCDS10213.2 r.? - - Del intronic D 66327381 66327391 1 15 325.687 - - 9 1 1 MEGF11|CCDS10213.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MEGF11|CCDS10213.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 2 4 3 6 19 29 19 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759987418 15 66500258 T TA 360 PASS MEGF11 CCDS10213.2 r.? - - Ins intronic I 66500258 66500267 1 15 320.87 - - 8 1 1 MEGF11|CCDS10213.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MEGF11|CCDS10213.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 12 10 0 0 ./. 2 4 3 7 13 36 13 36 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759987578 15 66839271 TA T 358 PASS ZWILCH CCDS10219.1 r.? - - Del intronic D 66839271 66839281 1 20 379.968 - - 9 1 1 ZWILCH|CCDS10219.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ZWILCH|CCDS10219.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 4 3 6 15 27 15 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759988058 15 68213227 CT C 480 PASS - - - - - Del - D 68213227 68213237 1 16 430.636 - - 9 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 1 7 2 10 18 37 18 37 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759988163 15 68530460 CA C 360 PASS - - - - - Del - D 68530460 68530470 1 12 323.278 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 5 1 6 20 26 20 26 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759988230 15 68682197 G GT 600 PASS ITGA11 CCDS45291.1 r.? - - Ins intronic I 68682197 68682204 1 27 536.79 - - 6 1 1 ITGA11|CCDS45291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITGA11|CCDS45291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 8 2 9 4 40 43 40 43 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759988505 15 69543369 TA T 600 PASS GLCE CCDS32277.1 r.? - - Del intronic D 69543369 69543377 1 36 541.607 - - 7 1 1 GLCE|CCDS32277.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GLCE|CCDS32277.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 5 6 7 30 17 30 17 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759988615 15 69831085 AG A 360 PASS - - - - - Del - D 69831085 69831093 1 15 325.687 - - 7 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 4 2 4 2 26 28 26 28 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759988772 15 70446516 CG C 480 PASS - - - - - Del - D 70446516 70446524 1 25 433.045 - - 7 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 4 5 7 25 29 25 29 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759988781 15 70499424 TA T 360 PASS - - - - - Del - D 70499424 70499434 1 16 325.687 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 3 3 4 24 24 24 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759989044 15 71422700 A AT 300 PASS THSD4 CCDS10238.2 r.? - - Ins intronic I 71422700 71422707 1 12 265.987 - - 6 1 1 THSD4|CCDS10238.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 THSD4|CCDS10238.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 6 17 6 0 0 ./. 3 2 4 4 16 30 16 31 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759989529 15 72808137 CAT C 300 PASS MIR630 CCDS10244.1 r.? - - Del intronic D 72808137 72808149 2 10 271.405 - - 5 1 1 MIR630|CCDS10244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR630|CCDS10244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 4 1 4 1 19 22 19 22 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759989649 15 73201927 CT C 300 PASS - - - - - Del - D 73201927 73201937 1 6 271.405 - - 9 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 5 0 5 1 33 18 33 18 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759989739 15 73532545 AT A 300 PASS NEO1 CCDS10247.1 r.? - - Del intronic D 73532545 73532555 1 12 271.405 - - 9 1 1 NEO1|CCDS10247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEO1|CCDS10247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 3 2 3 23 17 23 17 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759989794 15 73778447 CT C 300 PASS C15orf60 CCDS45296.1 r.? - - Del intronic D 73778447 73778457 1 12 265.987 - - 9 1 1 C15orf60|CCDS45296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C15orf60|CCDS45296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 2 6 2 22 22 22 22 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759989944 15 74251747 CT C 300 PASS - - - - - Del - D 74251747 74251756 1 12 270.201 - - 8 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 3 5 33 34 33 34 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759989974 15 74437359 GT G 300 PASS - - - - - Del - D 74437359 74437369 1 10 271.405 - - 9 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 1 4 1 4 5 33 5 33 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759990076 15 74796439 TA T 389 PASS - - - - - Del - D 74796439 74796449 1 18 379.968 - - 9 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 5 3 6 14 25 14 25 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759990154 15 74982333 TA T 276 PASS EDC3 CCDS10267.1 r.? - - Del intronic D 74982333 74982343 1 12 271.405 - - 9 1 1 EDC3|CCDS10267.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 EDC3|CCDS10267.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 2 5 15 29 15 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759990277 15 75235629 G GT 420 PASS - - - - - Ins - I 75235629 75235636 1 18 368.529 - - 6 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 5 2 5 6 36 38 37 38 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759990278 15 75236013 GA G 480 PASS - - - - - Del - D 75236013 75236021 1 21 432.443 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 6 4 8 29 34 29 34 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759990381 15 75468787 CT C 300 PASS - - - - - Del - D 75468787 75468789 1 12 271.405 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 6 4 20 16 20 16 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759990394 15 75511360 GC G 414 PASS - - - - - Del - D 75511360 75511367 1 18 377.559 - - 6 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 2 5 3 7 26 33 26 33 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759990395 15 75525021 C CA 300 PASS ENSG00000235063 ENST00000418643 r.? - - Ins upstream I 75525021 75525022 1 12 267.793 - - 0 1 1 ENSG00000235063|ENST00000418643|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ENSG00000235063|ENST00000418643|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 3 3 4 30 27 31 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759990530 15 75970859 AT A 300 PASS CSPG4 CCDS10284.1 r.? - - Del intronic D 75970859 75970869 1 10 271.405 - - 9 1 1 CSPG4|CCDS10284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000203392|ENST00000435356|r.189delU|c.20delT|p.Y10fs*4|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 1 6 3 36 6 36 6 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759990795 15 76806722 CA C 300 PASS SCAPER ENST00000303521 r.? - - Del intronic D 76806722 76806729 1 12 271.405 - - 6 1 1 SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 2 4 4 17 34 17 34 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759990903 15 77190211 C CT 480 PASS SCAPER ENST00000303521 r.? - - Ins intronic I 77190211 77190221 1 24 427.626 - - 9 1 1 SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 5 4 6 27 25 27 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759990997 15 77578058 AT A 277 PASS - - - - - Del - D 77578058 77578068 1 12 271.405 - - 9 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 2 3 2 3 27 19 27 19 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759991036 15 77855080 T TG 600 PASS - - - - - Ins - I 77855080 77855089 1 35 528.964 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 6 5 6 29 32 29 32 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759991232 15 78403648 AG A 360 PASS CIB2 CCDS10296.1 r.? - - Del intronic D 78403648 78403654 1 15 325.687 - - 5 1 1 CIB2|CCDS10296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CIB2|CCDS10296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 2 4 3 4 27 27 27 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759991327 15 78603946 C CAG 360 PASS - - - - - Ins - I 78603946 78603957 2 12 318.462 - - 5 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 1 5 2 42 24 42 25 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759991338 15 78636315 AT A 420 PASS CRABP1 CCDS10301.1 r.? - - Del intronic D 78636315 78636324 1 18 379.968 - - 8 1 1 CRABP1|CCDS10301.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRABP1|CCDS10301.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 5 3 8 22 23 22 23 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759991496 15 79021115 CT C 287 PASS - - - - - Del - D 79021115 79021124 1 12 325.084 - - 8 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 5 1 6 1 28 27 28 27 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759991578 15 79171537 ACT A 420 PASS MORF4 CCDS10307.1 r.? - - Del intronic D 79171537 79171550 2 20 378.161 - - 6 1 1 MORF4|CCDS10307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MORF4|CCDS10307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 4 6 6 22 27 22 27 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759991637 15 79337188 AT A 420 PASS RASGRF1 CCDS42065.1 r.? - - Del intronic D 79337188 79337198 1 18 379.968 - - 9 1 1 RASGRF1|CCDS42065.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RASGRF1|CCDS42065.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 5 2 7 3 28 30 28 30 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759991658 15 79418316 GA G 720 PASS - - - - - Del - D 79418316 79418324 1 45 649.567 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 8 9 10 23 29 23 29 9 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759991855 15 80082204 CA C 300 PASS - - - - - Del - D 80082204 80082214 1 12 269.599 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 2 5 2 24 30 24 30 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992204 15 81072684 CAG C 300 PASS KIAA1199 CCDS10315.1 r.? - - Del intronic D 81072684 81072691 2 12 271.405 - - 3 1 1 KIAA1199|CCDS10315.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1199|CCDS10315.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 2 4 3 27 35 27 35 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992246 15 81228064 GT G 300 PASS KIAA1199 CCDS10315.1 r.? - - Del intronic D 81228064 81228073 1 10 271.405 - - 8 1 - KIAA1199|CCDS10315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1199|CCDS10315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 1 5 2 25 26 25 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992281 15 81352057 TA T 300 PASS - - - - - Del - D 81352057 81352067 1 6 271.405 - - 9 1 1 - - ./. 0 0 0 0 10 3 10 3 0 0 ./. 0 5 0 5 4 18 4 18 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992395 15 81876881 CA C 569 PASS - - - - - Del - D 81876881 81876889 1 32 542.811 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 7 3 9 3 34 22 34 22 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992405 15 81933060 CA C 480 PASS - - - - - Del - D 81933060 81933069 1 24 434.249 - - 8 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 3 5 3 5 28 21 28 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992460 15 82158549 CAG C 360 PASS - - - - - Del - D 82158549 82158558 2 16 325.687 - - 4 1 1 - - ./. 0 0 0 0 10 4 10 4 0 0 ./. 3 3 3 3 18 12 18 12 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992509 15 82326979 A AT 300 PASS - - - - - Ins - I 82326979 82326986 1 10 268.395 - - 6 1 1 - - ./. 0 0 0 0 9 8 9 9 0 0 ./. 4 1 6 1 24 11 24 11 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992710 15 83481453 CT C 360 PASS WHAMM CCDS45333.1 r.? - - Del intronic D 83481453 83481463 1 15 322.074 - - 9 1 1 WHAMM|CCDS45333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WHAMM|CCDS45333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 4 15 4 0 0 ./. 2 4 4 4 14 16 14 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992759 15 83640244 AT A 300 PASS AC022558.1 ENST00000500334 r.? - - Del intronic D 83640244 83640254 1 12 271.405 - - 9 1 1 AC022558.1|ENST00000500334|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC022558.1|ENST00000500334|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 2 3 4 15 19 15 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992764 15 83645918 GA G 720 PASS AC022558.1 ENST00000500334 r.? - - Del intronic D 83645918 83645928 1 49 651.373 - - 9 1 1 AC022558.1|ENST00000500334|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC022558.1|ENST00000500334|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 11 23 11 0 0 ./. 6 6 6 7 30 37 30 37 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992902 15 84227916 GT G 360 PASS SH3GL3 CCDS10325.2 r.? - - Del intronic D 84227916 84227924 1 16 325.687 - - 7 1 1 SH3GL3|CCDS10325.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3GL3|CCDS10325.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 3 3 5 27 29 27 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992915 15 84278606 GGA G 300 PASS SH3GL3 CCDS10325.2 r.? - - Del intronic D 84278606 84278623 2 12 271.405 - - 8 1 1 SH3GL3|CCDS10325.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3GL3|CCDS10325.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 2 3 3 29 19 29 19 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992961 15 84422033 A AT 600 PASS ADAMTSL3 CCDS10326.1 r.? - - Ins intronic I 84422033 84422041 1 35 536.79 - - 7 1 1 ADAMTSL3|CCDS10326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAMTSL3|CCDS10326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 6 4 8 6 33 31 33 31 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759992991 15 84482169 GA G 300 PASS ADAMTSL3 CCDS10326.1 r.? - - Del intronic D 84482169 84482179 1 10 270.803 - - 9 1 1 ADAMTSL3|CCDS10326.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTSL3|CCDS10326.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 1 4 1 6 30 20 30 20 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993141 15 85080122 CT C 385 PASS - - - - - Del - D 85080122 85080129 1 18 379.366 - - 6 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 2 7 5 25 19 25 19 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993219 15 85238021 C CA 300 PASS SEC11B CCDS45340.1 r.? - - Ins intronic I 85238021 85238031 1 12 261.17 - - 9 1 1 SEC11B|CCDS45340.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SEC11B|CCDS45340.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 12 0 0 ./. 3 2 4 2 15 28 15 28 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993283 15 85347259 AT A 360 PASS ZNF592 CCDS32317.1 r.5462delU c.? p.? Del 3'UTR variant D 85347259 85347266 1 16 324.482 - - 6 1 1 ZNF592|CCDS32317.1|r.5462delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ZNF592|CCDS32317.1|r.5462delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 3 5 3 19 9 19 9 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993351 15 85468667 TA T 329 PASS SLC28A1 CCDS10334.1 r.? - - Del intronic D 85468667 85468673 1 15 325.687 - - 5 1 1 SLC28A1|CCDS10334.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC28A1|CCDS10334.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 4 2 5 17 11 17 11 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993410 15 85593714 AT A 600 PASS PDE8A CCDS10336.1 r.? - - Del intronic D 85593714 85593722 1 27 542.811 - - 7 1 1 PDE8A|CCDS10336.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE8A|CCDS10336.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 8 2 11 2 27 10 27 10 11 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993662 15 86195534 CT C 420 PASS AKAP13 CCDS32320.1 r.? - - Del intronic D 86195534 86195542 1 14 379.968 - - 7 1 1 AKAP13|CCDS32320.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AKAP13|CCDS32320.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 1 10 3 28 21 28 21 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993687 15 86240799 CA C 300 PASS AKAP13 CCDS32320.1 r.? - - Del intronic D 86240799 86240807 1 12 271.405 - - 7 1 1 AKAP13|CCDS32320.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AKAP13|CCDS32320.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 3 5 3 24 22 24 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993694 15 86258316 GT G 360 PASS AKAP13 CCDS32320.1 r.? - - Del intronic D 86258316 86258325 1 12 325.687 - - 8 1 1 AKAP13|CCDS32320.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AKAP13|CCDS32320.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 1 6 2 24 18 24 18 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993708 15 86287016 GA G 300 PASS AKAP13 CCDS32320.1 r.8535delA c.8365delA p.K2791fs*34 Del frameshift D 86287016 86287025 1 12 270.803 - - 8 1 1 AKAP13|CCDS32320.1|r.8535delA|c.8365delA|p.K2791fs*34|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 AKAP13|CCDS32320.1|r.8535delA|c.8365delA|p.K2791fs*34|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 6 4 31 25 31 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993822 15 86534559 CAT C 300 PASS - - - - - Del - D 86534559 86534564 2 12 271.405 - - 2 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 3 3 15 18 15 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993869 15 86692685 CA C 351 PASS AGBL1 ENST00000421325 r.? - - Del intronic D 86692685 86692694 1 20 379.968 - - 8 1 1 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 4 5 5 28 32 28 32 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993945 15 87012228 G GAT 300 PASS AGBL1 ENST00000421325 r.? - - Ins intronic I 87012228 87012239 2 12 259.364 - - 5 1 1 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 2 3 6 18 6 18 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759993969 15 87095585 G GA 358 PASS AGBL1 ENST00000421325 r.? - - Ins intronic I 87095585 87095593 1 20 375.753 - - 7 1 1 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 4 3 4 3 26 18 26 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759994035 15 87322310 G GA 360 PASS - - - - - Ins - I 87322310 87322313 1 15 322.074 - - 2 1 1 - - ./. 0 0 0 0 10 14 11 14 0 0 ./. 2 4 3 5 24 29 24 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759994068 15 87456535 A AG 300 PASS - - - - - Ins - I 87456535 87456540 1 12 268.395 - - 4 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 3 3 6 20 28 20 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759994145 15 87666428 CA C 300 PASS - - - - - Del - D 87666428 87666438 1 6 271.405 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 0 6 2 24 24 24 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759994209 15 87948165 TG T 300 PASS - - - - - Del - D 87948165 87948171 1 12 271.405 - - 5 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 2 5 5 29 18 29 18 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759994274 15 88305920 CA C 360 PASS - - - - - Del - D 88305920 88305930 1 16 325.687 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 3 3 5 16 28 16 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759994325 15 88483379 AC A 360 PASS NTRK3 CCDS10340.1 r.? - - Del intronic D 88483379 88483386 1 15 325.085 - - 6 1 1 NTRK3|CCDS10340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTRK3|CCDS10340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 12 3 12 0 0 ./. 2 4 4 5 28 25 28 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759994334 15 88524290 CTTTAA C 329 PASS NTRK3 CCDS10340.1 r.? - - Del intronic D 88524290 88524301 5 12 325.687 - - 2 1 1 NTRK3|CCDS10340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTRK3|CCDS10340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 5 1 6 15 21 15 21 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759994362 15 88733791 CT C 600 PASS NTRK3 CCDS10340.1 r.? - - Del intronic D 88733791 88733799 1 27 542.811 - - 7 1 1 NTRK3|CCDS10340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTRK3|CCDS10340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 8 6 9 34 29 34 29 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759994536 15 89411283 GGCA G 269 PASS ACAN ENST00000439576 r.? - - Del intronic D 89411283 89411308 3 12 268.395 - - 8 1 - ACAN|ENST00000439576|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACAN|ENST00000439576|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 2 3 2 27 24 27 24 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759994731 15 89883510 CA C 300 PASS - - - - - Del - D 89883510 89883520 1 12 271.405 - - 9 1 1 - - ./. 0 0 0 0 10 3 10 3 0 0 ./. 3 2 4 2 17 13 17 13 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759994738 15 89903925 AG A 420 PASS - - - - - Del - D 89903925 89903931 1 20 364.314 - - 5 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 3 5 6 14 26 14 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759995164 15 90907154 G GT 360 PASS ZNF774 CCDS32330.1 r.? - - Ins downstream I 90907154 90907163 1 15 322.074 - - 8 1 1 ZNF774|CCDS32330.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ZNF774|CCDS32330.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 4 3 8 37 34 37 34 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759995192 15 90970817 TA T 300 PASS IQGAP1 CCDS10362.1 r.? - - Del intronic D 90970817 90970823 1 12 270.803 - - 5 1 1 IQGAP1|CCDS10362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IQGAP1|CCDS10362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 4 4 15 25 15 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759995300 15 91126243 CT C 360 PASS CRTC3 CCDS32331.1 r.? - - Del intronic D 91126243 91126253 1 16 323.88 - - 9 1 1 CRTC3|CCDS32331.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRTC3|CCDS32331.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 3 5 4 23 21 23 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759995323 15 91176154 CT C 300 PASS CRTC3 CCDS32331.1 r.? - - Del intronic D 91176154 91176162 1 12 271.405 - - 7 1 1 CRTC3|CCDS32331.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRTC3|CCDS32331.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 11 22 11 0 0 ./. 2 3 4 6 26 31 26 31 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759995433 15 91457745 CT C 360 PASS MAN2A2 CCDS32332.1 r.? - - Del intronic D 91457745 91457755 1 16 324.482 - - 9 1 1 MAN2A2|CCDS32332.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAN2A2|CCDS32332.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 3 4 5 34 30 34 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759995674 15 92274186 C CT 300 PASS - - - - - Ins - I 92274186 92274195 1 10 266.589 - - 8 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 1 4 1 24 14 24 14 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759995708 15 92428088 CT C 420 PASS SLCO3A1 CCDS10371.1 r.? - - Del intronic D 92428088 92428098 1 20 379.968 - - 9 1 1 SLCO3A1|CCDS10371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLCO3A1|CCDS10371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 3 5 3 26 6 26 6 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759995768 15 92598733 GT G 480 PASS SLCO3A1 CCDS10371.1 r.? - - Del intronic D 92598733 92598742 1 21 423.412 - - 8 1 1 SLCO3A1|CCDS10371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLCO3A1|CCDS10371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 6 2 7 3 31 22 31 22 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759995929 15 93195473 CA C 569 PASS FAM174B CCDS45355.1 r.? - - Del intronic D 93195473 93195479 1 32 542.811 - - 5 1 1 FAM174B|CCDS45355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM174B|CCDS45355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 7 6 11 27 38 27 38 6 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996026 15 93389840 CT C 360 PASS - - - - - Del - D 93389840 93389848 1 15 324.482 - - 7 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 2 4 3 21 33 21 33 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996033 15 93393871 CT C 360 PASS - - - - - Del - D 93393871 93393881 1 16 325.687 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 4 3 28 23 28 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996079 15 93480818 CA C 300 PASS CHD2 CCDS10374.2 r.1222delA c.515delA p.V175fs*1 Del frameshift D 93480818 93480827 1 6 269.599 - - 8 1 1 CHD2|CCDS10374.2|r.1222delA|c.515delA|p.V175fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CHD2|CCDS10374.2|r.1222delA|c.515delA|p.V175fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 0 5 0 23 8 23 8 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996264 15 93911533 G GA 300 PASS - - - - - Ins - I 93911533 93911543 1 12 267.191 - - 9 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 2 5 4 40 25 40 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996499 15 94509457 TC T 300 PASS - - - - - Del - D 94509457 94509463 1 6 265.385 - - 5 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 0 5 1 25 14 25 14 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996502 15 94519353 C CCT 480 PASS - - - - - Ins - I 94519353 94519364 2 24 424.014 - - 5 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 3 5 4 30 11 30 11 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996589 15 94782788 CCT C 480 PASS MCTP2 CCDS32338.1 r.? - - Del intronic D 94782788 94782791 2 24 432.443 - - 1 1 1 MCTP2|CCDS32338.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MCTP2|CCDS32338.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 12 5 12 0 0 ./. 5 3 6 4 32 27 32 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996655 15 94920029 CA C 300 PASS MCTP2 CCDS32338.1 r.? - - Del intronic D 94920029 94920037 1 12 271.405 - - 7 1 1 MCTP2|CCDS32338.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCTP2|CCDS32338.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 5 4 23 33 23 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996770 15 95279582 CT C 480 PASS - - - - - Del - D 95279582 95279591 1 24 434.249 - - 8 1 1 - - ./. 0 0 0 0 6 17 6 17 0 0 ./. 3 5 4 6 28 23 28 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996786 15 95329893 CT C 300 PASS - - - - - Del - D 95329893 95329902 1 10 271.405 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 1 4 1 6 3 23 3 23 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996866 15 95577233 TA T 360 PASS - - - - - Del - D 95577233 95577243 1 7 325.687 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 0 6 1 8 11 27 11 27 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996885 15 95653866 AT A 300 PASS - - - - - Del - D 95653866 95653876 1 12 271.405 - - 9 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 2 5 4 20 30 20 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996903 15 95751822 CT C 360 PASS - - - - - Del - D 95751822 95751830 1 16 325.687 - - 7 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 3 3 3 20 18 20 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996952 15 95925005 TA T 300 PASS - - - - - Del - D 95925005 95925015 1 10 271.405 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 4 1 4 8 31 8 31 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759996954 15 95943895 CT C 473 PASS - - - - - Del - D 95943895 95943901 1 24 433.045 - - 5 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 5 4 6 16 29 16 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759997210 15 96750394 TA T 300 PASS - - - - - Del - D 96750394 96750403 1 12 271.405 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 2 4 9 25 9 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759997357 15 97115352 A AT 660 PASS - - - - - Ins - I 97115352 97115361 1 42 590.469 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 6 6 6 26 14 27 14 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759997375 15 97187386 GA G 360 PASS - - - - - Del - D 97187386 97187395 1 12 325.687 - - 8 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 1 5 1 5 16 28 16 28 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759997503 15 97583343 GA G 360 PASS - - - - - Del - D 97583343 97583350 1 12 325.687 - - 6 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 1 5 1 25 15 25 15 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759997711 15 98305833 TA T 298 PASS AC027708.1 ENST00000503768 r.? - - Del intronic D 98305833 98305842 1 16 325.687 - - 8 1 1 AC027708.1|ENST00000503768|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC027708.1|ENST00000503768|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 3 6 4 33 12 33 12 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759997858 15 98680145 GT G 480 PASS - - - - - Del - D 98680145 98680153 1 21 433.045 - - 7 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 6 3 6 28 26 28 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759997922 15 98856043 TAG T 298 PASS - - - - - Del - D 98856043 98856061 2 15 325.687 - - 8 1 - - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 4 2 6 2 33 20 33 20 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759998321 15 99781083 CA C 329 PASS TTC23 CCDS10379.2 r.? - - Del intronic D 99781083 99781092 1 15 322.074 - - 8 1 1 TTC23|CCDS10379.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TTC23|CCDS10379.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 16 3 16 0 0 ./. 2 4 3 5 24 34 24 34 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759998424 15 100131521 GT G 540 PASS MEF2A CCDS45362.1 r.? - - Del intronic D 100131521 100131531 1 24 488.53 - - 9 1 1 MEF2A|CCDS45362.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MEF2A|CCDS45362.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 7 2 10 23 36 23 36 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759998580 15 100616250 CT C 300 PASS ADAMTS17 CCDS10383.1 r.? - - Del intronic D 100616250 100616260 1 12 271.405 - - 9 1 1 ADAMTS17|CCDS10383.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS17|CCDS10383.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 21 6 21 0 0 ./. 3 2 3 3 28 25 28 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759998663 15 100914633 GT G 300 PASS - - - - - Del - D 100914633 100914643 1 6 271.405 - - 9 1 1 - - ./. 0 0 0 0 16 3 16 3 0 0 ./. 5 0 6 0 20 3 20 3 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759998822 15 101277201 GA G 300 PASS - - - - - Del - D 101277201 101277211 1 10 271.405 - - 9 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 1 4 1 4 25 30 25 30 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759998847 15 101367501 AT A 420 PASS - - - - - Del - D 101367501 101367510 1 20 379.968 - - 8 1 1 - - ./. 0 0 0 0 12 4 12 4 0 0 ./. 3 4 4 6 29 29 29 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759998969 15 101668402 GT G 300 PASS - - - - - Del - D 101668402 101668412 1 12 271.405 - - 9 1 - - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 3 5 25 26 25 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759999000 15 101752601 TA T 360 PASS CHSY1 ENST00000254190 r.? - - Del intronic D 101752601 101752609 1 15 325.687 - - 7 1 1 CHSY1|ENST00000254190|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHSY1|ENST00000254190|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 2 4 3 5 23 19 23 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759999194 15 102263890 CA C 360 PASS TARSL2 CCDS10394.1 r.? - - Del intronic D 102263890 102263899 1 15 325.687 - - 8 1 1 TARSL2|CCDS10394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TARSL2|CCDS10394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 2 6 2 23 8 23 8 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759999592 16 776729 CCTT C 480 PASS NARFL CCDS10425.1 r.? - - Del downstream D 776729 776735 3 25 433.801 - - 1 1 1 NARFL|CCDS10425.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CCDC78|ENST00000423653|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 6 15 6 0 0 ./. 4 4 4 4 24 15 24 15 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759999724 16 1193581 CA C 269 PASS - - - - - Del - D 1193581 1193590 1 12 271.125 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 2 3 23 19 23 19 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759999780 16 1354961 TG T 277 PASS UBE2I CCDS10433.1 r.? - - Del upstream D 1354961 1354965 1 12 271.125 - - 3 1 1 UBE2I|CCDS10433.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 UBE2I|CCDS10433.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 2 5 4 25 22 25 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759999881 16 1636311 TA T 335 PASS IFT140 CCDS10439.1 r.? - - Del intronic D 1636311 1636319 1 14 379.576 - - 7 1 1 IFT140|CCDS10439.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IFT140|CCDS10439.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 13 3 13 0 0 ./. 1 6 2 8 20 36 20 36 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2759999982 16 1881158 TA T 300 PASS FAHD1 CCDS32367.1 r.? - - Del intronic D 1881158 1881166 1 12 271.125 - - 7 1 1 FAHD1|CCDS32367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAHD1|CCDS32367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 4 3 26 20 26 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000050 16 2056322 TG T 300 PASS ZNF598 ENST00000431526 r.? - - Del intronic D 2056322 2056327 1 10 271.125 - - 4 1 1 ZNF598|ENST00000431526|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF598|ENST00000431526|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 1 4 3 4 24 27 24 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000259 16 2759338 CT C 300 PASS KCTD5 CCDS10475.1 r.? - - Del downstream D 2759338 2759348 1 10 271.125 - - 9 1 1 KCTD5|CCDS10475.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 KCTD5|CCDS10475.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 8 10 8 10 0 0 ./. 1 4 3 5 29 19 29 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000365 16 2989546 TA T 360 PASS FLYWCH1 CCDS45390.1 r.? - - Del intronic D 2989546 2989556 1 15 325.351 - - 9 1 1 FLYWCH1|CCDS45390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FLYWCH1|CCDS45390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 4 16 4 0 0 ./. 4 2 5 6 27 24 27 24 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000383 16 3074128 AG A 360 PASS THOC6 CCDS10491.1 r.98delG c.? p.? Del 5'UTR variant D 3074128 3074134 1 12 321.738 - - 5 1 1 THOC6|CCDS10491.1|r.98delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 THOC6|CCDS10491.1|r.98delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 9 6 9 6 0 0 ./. 1 5 2 6 18 25 18 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000415 16 3179148 C CA 360 PASS - - - - - Ins - I 3179148 3179158 1 12 321.738 - - 9 1 1 - - ./. 0 0 0 0 11 23 11 23 0 0 ./. 5 1 6 2 34 17 34 17 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000442 16 3242917 TA T 300 PASS - - - - - Del - D 3242917 3242927 1 6 271.125 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 0 5 2 6 16 34 16 34 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000551 16 3494450 GA G 360 PASS NAT15 CCDS45396.1 r.? - - Del intronic D 3494450 3494460 1 12 325.351 - - 9 1 1 NAT15|CCDS45396.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NAT15|CCDS45396.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 1 8 4 37 27 37 27 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000571 16 3522407 GT G 360 PASS NAT15 CCDS45396.1 r.? - - Del intronic D 3522407 3522415 1 15 325.351 - - 7 1 1 NAT15|CCDS45396.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NAT15|CCDS45396.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 2 4 5 4 41 19 41 19 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000598 16 3588996 TA T 360 PASS CLUAP1 CCDS45398.1 r.? - - Del downstream D 3588996 3589006 1 7 325.351 - - 9 1 1 CLUAP1|CCDS45398.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CLUAP1|CCDS45398.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 0 7 1 33 18 33 18 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000713 16 3898943 TA T 480 PASS CREBBP CCDS10509.1 r.? - - Del intronic D 3898943 3898953 1 25 433.801 - - 9 1 1 CREBBP|CCDS10509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CREBBP|CCDS10509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 4 5 7 26 33 26 33 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000903 16 4273076 CA C 301 PASS SRL CCDS42113.1 r.? - - Del intronic D 4273076 4273084 1 20 378.974 - - 7 1 1 SRL|CCDS42113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRL|CCDS42113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 4 3 6 3 21 22 21 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000910 16 4279450 CA C 360 PASS SRL CCDS42113.1 r.? - - Del intronic D 4279450 4279460 1 15 325.351 - - 9 1 1 SRL|CCDS42113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRL|CCDS42113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 2 6 3 34 27 34 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760000947 16 4387550 GC G 300 PASS GLIS2 CCDS10511.1 r.2422delC c.? p.? Del 3'UTR variant D 4387550 4387558 1 12 269.319 - - 7 1 1 GLIS2|CCDS10511.1|r.2422delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 GLIS2|CCDS10511.1|r.2422delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 5 4 30 27 30 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760001253 16 5174315 CT C 537 PASS - - - - - Del - D 5174315 5174325 1 30 487.424 - - 9 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 4 6 6 34 30 34 30 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760001470 16 5680896 GT G 269 PASS - - - - - Del - D 5680896 5680905 1 12 271.125 - - 8 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 3 2 5 3 31 21 31 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760001480 16 5704946 TC T 480 PASS - - - - - Del - D 5704946 5704954 1 9 431.995 - - 7 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 8 0 10 1 23 29 23 29 10 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760001538 16 5894221 GT G 420 PASS - - - - - Del - D 5894221 5894230 1 18 379.576 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 2 7 3 38 23 38 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760001548 16 5924502 AT A 300 PASS - - - - - Del - D 5924502 5924512 1 10 270.523 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 4 2 6 14 23 14 23 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760001745 16 6491151 TG T 300 PASS - - - - - Del - D 6491151 6491158 1 10 271.125 - - 6 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 1 5 3 29 25 29 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760001892 16 6819798 GT G 420 PASS - - - - - Del - D 6819798 6819807 1 20 379.576 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 4 3 5 25 22 25 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760002093 16 7267972 TGC T 358 PASS - - - - - Del - D 7267972 7267976 2 18 379.576 - - 1 1 - - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 5 3 5 22 29 22 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760002347 16 7960462 GA G 420 PASS - - - - - Del - D 7960462 7960469 1 14 379.576 - - 6 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 6 1 9 2 29 16 29 16 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760002464 16 8299340 CT C 300 PASS - - - - - Del - D 8299340 8299347 1 12 271.125 - - 6 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 2 6 3 17 20 17 20 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760002532 16 8483534 TA T 420 PASS - - - - - Del - D 8483534 8483543 1 20 379.576 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 4 4 5 24 33 24 33 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760002790 16 8920654 G GT 360 PASS PMM2 CCDS10536.1 r.? - - Ins intronic I 8920654 8920663 1 12 321.738 - - 8 1 1 PMM2|CCDS10536.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PMM2|CCDS10536.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 1 5 2 6 15 24 15 24 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760002865 16 9084753 C CA 360 PASS - - - - - Ins - I 9084753 9084762 1 12 321.738 - - 8 1 1 - - ./. 0 0 0 0 9 16 10 16 0 0 ./. 1 5 2 7 9 16 9 16 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760002918 16 9166917 G GC 480 PASS - - - - - Ins - I 9166917 9166922 1 21 428.984 - - 4 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 6 4 10 29 45 29 46 4 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760003217 16 9791454 GA G 360 PASS - - - - - Del - D 9791454 9791464 1 7 325.351 - - 9 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 6 0 7 2 34 26 34 26 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760003223 16 9806756 TG T 360 PASS - - - - - Del - D 9806756 9806765 1 16 325.351 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 3 3 3 29 21 29 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760003417 16 10323711 AC A 300 PASS - - - - - Del - D 10323711 10323717 1 12 271.125 - - 5 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 3 2 3 2 19 10 19 10 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760003879 16 11400172 AAAC A 360 PASS MIR548H2 ENST00000408874 r.? - - Del downstream D 11400172 11400193 3 16 323.544 - - 6 1 - MIR548H2|ENST00000408874|r.?|-|-|non_protein_coding:deletion:500B_downstream_variant|SO:0000011:SO:0000159:SO:0001634 MIR548H2|ENST00000408874|r.?|-|-|non_protein_coding:deletion:500B_downstream_variant|SO:0000011:SO:0000159:SO:0001634 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 3 5 5 30 28 30 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760004021 16 11663270 A AT 420 PASS LITAF CCDS32386.1 r.? - - Ins intronic I 11663270 11663279 1 20 375.361 - - 8 1 1 LITAF|CCDS32386.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LITAF|CCDS32386.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 4 4 6 22 29 22 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760004049 16 11720711 GT G 300 PASS - - - - - Del - D 11720711 11720721 1 12 271.125 - - 9 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 3 4 4 20 23 20 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760004639 16 12894805 AT A 420 PASS CPPED1 CCDS42120.1 r.? - - Del intronic D 12894805 12894812 1 18 379.576 - - 6 1 1 CPPED1|CCDS42120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPPED1|CCDS42120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 2 5 3 26 24 26 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760004689 16 12994026 CT C 420 PASS SHISA9 CCDS45418.1 r.? - - Del upstream D 12994026 12994036 1 18 379.576 - - 9 1 1 SHISA9|CCDS45418.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SHISA9|CCDS45418.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 5 4 6 29 24 29 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760004746 16 13118926 AT A 360 PASS SHISA9 CCDS45417.1 r.? - - Del intronic D 13118926 13118934 1 12 325.351 - - 7 1 1 SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 13 4 13 0 0 ./. 1 5 1 6 10 22 10 22 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760004788 16 13266031 CTCT C 418 PASS SHISA9 CCDS45417.1 r.? - - Del intronic D 13266031 13266039 3 24 433.801 - - 2 1 1 SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 3 6 3 27 16 27 16 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760004824 16 13365627 TG T 538 PASS - - - - - Del - D 13365627 13365636 1 35 538.639 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 6 8 8 25 29 25 29 8 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760004826 16 13385884 CT C 420 PASS - - - - - Del - D 13385884 13385893 1 20 379.576 - - 8 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 4 3 5 26 29 26 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760004903 16 13567670 TC T 420 PASS - - - - - Del - D 13567670 13567672 1 14 378.372 - - 1 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 1 6 2 7 27 27 27 27 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760004908 16 13581420 GC G 360 PASS - - - - - Del - D 13581420 13581426 1 15 321.136 - - 5 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 4 2 4 15 23 15 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760005001 16 13799528 GA G 360 PASS - - - - - Del - D 13799528 13799536 1 12 324.146 - - 7 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 5 1 5 1 26 19 26 19 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760005247 16 14493471 TA T 259 PASS - - - - - Del - D 14493471 14493477 1 20 372.351 - - 5 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 3 4 3 31 19 31 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760005263 16 14522506 GA G 360 PASS - - - - - Del - D 14522506 14522515 1 12 325.351 - - 8 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 5 1 5 2 17 21 17 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760005340 16 14741942 CA C 300 PASS BFAR CCDS10554.1 r.? - - Del intronic D 14741942 14741952 1 6 268.717 - - 9 1 1 BFAR|CCDS10554.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BFAR|CCDS10554.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 0 7 0 31 20 31 20 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760005497 16 15283125 G GT 250 PASS - - - - - Ins - I 15283125 15283134 1 16 319.932 - - 8 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 3 3 4 21 13 22 13 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760005639 16 15679903 CA C 269 PASS C16orf45 CCDS10561.1 r.? - - Del intronic D 15679903 15679910 1 10 271.125 - - 6 1 1 C16orf45|CCDS10561.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C16orf45|CCDS10561.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 4 2 5 22 20 22 20 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760005652 16 15716415 AT A 360 PASS KIAA0430 CCDS10562.2 r.? - - Del intronic D 15716415 15716425 1 15 325.351 - - 9 1 1 KIAA0430|CCDS10562.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0430|CCDS10562.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 4 4 4 28 24 28 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760005670 16 15765197 CA C 360 PASS MIR484 CCDS10564.1 r.? - - Del intronic D 15765197 15765205 1 12 324.749 - - 7 1 1 MIR484|CCDS10564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR484|CCDS10564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 1 5 1 5 22 26 22 26 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760005728 16 15927929 CT C 569 PASS MYH11 CCDS45424.1 r.? - - Del intronic D 15927929 15927939 1 35 542.251 - - 9 1 1 MYH11|CCDS45424.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYH11|CCDS45424.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 6 5 6 23 28 23 28 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760005814 16 16102545 CA C 269 PASS ABCC1 CCDS42122.1 r.? - - Del intronic D 16102545 16102551 1 10 271.125 - - 5 1 1 ABCC1|CCDS42122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCC1|CCDS42122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 5 5 5 0 0 ./. 4 1 5 1 25 5 25 5 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760005867 16 16211761 TA T 720 PASS ABCC1 CCDS42122.1 r.? - - Del intronic D 16211761 16211771 1 45 650.701 - - 9 1 1 ABCC1|CCDS42122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCC1|CCDS42122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 8 4 11 4 28 19 28 19 11 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760006325 16 17817522 TA T 480 PASS - - - - - Del - D 17817522 17817532 1 24 433.199 - - 9 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 5 6 6 19 31 19 31 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760006856 16 19354466 CTCTT C 480 PASS - - - - - Del - D 19354466 19354478 4 21 433.801 - - 2 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 2 6 4 28 30 28 30 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760007021 16 19623091 T TG 300 PASS C16orf62 CCDS32397.1 r.? - - Ins intronic I 19623091 19623099 1 12 265.105 - - 7 1 1 C16orf62|CCDS32397.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C16orf62|CCDS32397.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 4 2 26 28 26 28 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760007121 16 19906275 C CCT 300 PASS - - - - - Ins - I 19906275 19906288 2 12 263.299 - - 6 1 - - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 3 2 3 24 25 25 26 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760007146 16 19985124 C CA 329 PASS - - - - - Ins - I 19985124 19985134 1 16 313.309 - - 9 1 1 - - ./. 0 0 0 0 20 13 21 14 0 0 ./. 3 3 5 4 36 28 36 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760007246 16 20294493 AT A 480 PASS - - - - - Del - D 20294493 20294502 1 21 433.801 - - 8 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 6 3 7 28 26 28 26 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760007252 16 20306191 CA C 360 PASS - - - - - Del - D 20306191 20306200 1 15 325.351 - - 8 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 4 3 4 20 28 20 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760007396 16 20876957 CG C 480 PASS DCUN1D3 CCDS10592.1 r.? - - Del intronic D 20876957 20876961 1 16 433.801 - - 3 1 1 DCUN1D3|CCDS10592.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DCUN1D3|CCDS10592.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 7 1 7 1 25 9 25 9 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760007469 16 21077490 G GT 360 PASS DNAH3 CCDS10594.1 r.? - - Ins intronic I 21077490 21077499 1 16 315.116 - - 8 1 1 DNAH3|CCDS10594.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAH3|CCDS10594.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 3 5 5 32 39 33 40 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760008063 16 22934717 GC G 360 PASS - - - - - Del - D 22934717 22934726 1 12 325.351 - - 8 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 1 5 5 7 33 28 33 28 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760008073 16 22954243 GTC G 300 PASS - - - - - Del - D 22954243 22954258 2 10 271.125 - - 7 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 1 4 2 26 25 26 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760008116 16 23078548 G GA 420 PASS USP31 CCDS10607.1 r.4877_4878insu c.? p.? Ins 3'UTR variant I 23078548 23078557 1 20 374.759 - - 8 1 1 USP31|CCDS10607.1|r.4877_4878insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 USP31|CCDS10607.1|r.4877_4878insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 18 12 18 12 0 0 ./. 4 3 4 5 28 35 28 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760008122 16 23085339 T TA 360 PASS USP31 CCDS10607.1 r.? - - Ins intronic I 23085339 23085349 1 16 319.932 - - 9 1 1 USP31|CCDS10607.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USP31|ENST00000381162|r.833_834insu|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 3 5 5 21 22 21 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760008523 16 23928708 GT G 420 PASS PRKCB CCDS10619.1 r.? - - Del intronic D 23928708 23928713 1 18 378.974 - - 4 1 1 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 2 6 4 34 16 34 16 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760008552 16 24009686 AT A 360 PASS PRKCB CCDS10619.1 r.? - - Del intronic D 24009686 24009696 1 16 314.513 - - 9 1 1 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 3 3 3 21 28 21 28 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760008585 16 24075498 G GA 300 PASS PRKCB CCDS10619.1 r.? - - Ins intronic I 24075498 24075508 1 6 266.911 - - 9 1 1 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 0 5 2 39 24 39 24 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760008688 16 24389124 AT A 420 PASS - - - - - Del - D 24389124 24389126 1 18 379.576 - - 1 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 5 2 7 2 29 25 29 25 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760008752 16 24521896 GA G 300 PASS - - - - - Del - D 24521896 24521905 1 6 271.125 - - 8 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 0 8 1 42 23 42 23 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760008869 16 24718818 T TA 360 PASS AC002565.1 ENST00000505247 r.2518_2519insa - - Ins non-coding variant I 24718818 24718823 1 15 320.534 - - 4 1 1 AC002565.1|ENST00000505247|r.2518_2519insa|-|-|non_protein_coding:exon:insertion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000667:SO:0001619 AC002565.1|ENST00000505247|r.2518_2519insa|-|-|non_protein_coding:exon:insertion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000667:SO:0001619 ./. 0 0 0 0 9 3 9 3 0 0 ./. 2 4 2 5 11 26 11 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760009357 16 25725464 CA C 360 PASS HS3ST4 ENST00000331351 r.? - - Del intronic D 25725464 25725473 1 15 325.351 - - 8 1 1 HS3ST4|ENST00000331351|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS3ST4|ENST00000331351|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 4 2 4 24 21 24 21 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760009385 16 25811175 AT A 300 PASS HS3ST4 ENST00000331351 r.? - - Del intronic D 25811175 25811183 1 12 271.125 - - 7 1 - HS3ST4|ENST00000331351|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS3ST4|ENST00000331351|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 3 3 3 15 21 15 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760009497 16 26153108 CT C 360 PASS HS3ST4 ENST00000331351 r.? - - Del downstream D 26153108 26153117 1 16 325.351 - - 8 1 1 HS3ST4|ENST00000331351|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 HS3ST4|ENST00000331351|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 3 3 4 19 19 19 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760009522 16 26219981 TA T 300 PASS - - - - - Del - D 26219981 26219988 1 12 271.125 - - 6 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 3 3 7 15 20 15 20 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760009610 16 26503122 CCT C 360 PASS - - - - - Del - D 26503122 26503139 2 16 325.351 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 3 4 3 31 27 31 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760009668 16 26678288 G GA 480 PASS - - - - - Ins - I 26678288 26678297 1 24 428.984 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 5 4 5 37 38 37 38 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760009749 16 26884392 GA G 420 PASS - - - - - Del - D 26884392 26884401 1 18 379.576 - - 8 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 2 8 4 30 26 30 26 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760009892 16 27246539 CTCTT C 360 PASS NSMCE1 CCDS10628.2 r.295_298delAAGA c.214_217delAAGA p.K72fs*15 Del frameshift D 27246539 27246545 4 16 325.351 - - 1 1 1 NSMCE1|CCDS10628.2|r.295_298delAAGA|c.214_217delAAGA|p.K72fs*15|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 NSMCE1|CCDS10628.2|r.295_298delAAGA|c.214_217delAAGA|p.K72fs*15|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 5 13 5 13 0 0 ./. 3 3 3 3 20 29 20 29 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760009896 16 27256350 AC A 300 PASS NSMCE1 CCDS10628.2 r.? - - Del intronic D 27256350 27256357 1 12 271.125 - - 6 1 1 NSMCE1|CCDS10628.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NSMCE1|CCDS10628.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 2 4 2 31 33 31 33 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760009898 16 27267394 CT C 360 PASS NSMCE1 CCDS10628.2 r.? - - Del intronic D 27267394 27267403 1 15 325.351 - - 8 1 1 NSMCE1|CCDS10628.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NSMCE1|CCDS10628.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 9 21 9 0 0 ./. 4 2 9 4 31 30 31 30 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760009994 16 27555705 C CA 300 PASS GTF3C1 CCDS32414.1 r.? - - Ins intronic I 27555705 27555714 1 12 266.309 - - 8 1 1 GTF3C1|CCDS32414.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GTF3C1|CCDS32414.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 2 5 4 25 29 25 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760010178 16 28084119 CA C 300 PASS - - - - - Del - D 28084119 28084128 1 12 271.125 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 2 4 2 21 12 21 12 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760010200 16 28179819 GA G 300 PASS XPO6 CCDS42135.1 r.? - - Del intronic D 28179819 28179829 1 12 271.125 - - 9 1 1 XPO6|CCDS42135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XPO6|CCDS42135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 2 5 23 22 23 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760010581 16 29269247 GC G 372 PASS - - - - - Del - D 29269247 29269252 1 20 377.167 - - 4 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 3 4 9 21 32 21 32 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760010947 16 30428296 C CA 360 PASS ZNF771 CCDS45460.1 r.? - - Ins intronic I 30428296 30428299 1 15 321.738 - - 2 1 1 ZNF771|CCDS45460.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF771|CCDS45460.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 4 5 5 30 20 30 20 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760011111 16 30800365 CA C 300 PASS ZNF629 CCDS45463.1 r.? - - Del upstream D 30800365 30800375 1 12 271.125 - - 9 1 - ZNF629|CCDS45463.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ZNF629|CCDS45463.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 4 3 30 29 30 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760011131 16 30864430 A AT 300 PASS MIR762 ENST00000380317 r.? - - Ins intronic I 30864430 30864438 1 12 268.115 - - 7 1 1 MIR762|ENST00000380317|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MIR762|ENST00000380317|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 2 3 4 24 8 24 8 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760011184 16 31001921 GCA G 449 PASS STX1B CCDS10699.1 r.3193_3194delUG c.? p.? Del 3'UTR variant D 31001921 31001933 2 24 431.995 - - 5 1 1 STX1B|CCDS10699.1|r.3193_3194delUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 STX1B|CCDS10699.1|r.3193_3194delUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 5 3 5 31 31 31 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760011318 16 31292500 CT C 267 PASS ITGAM CCDS45470.1 r.? - - Del intronic D 31292500 31292509 1 20 379.576 - - 8 1 1 ITGAM|CCDS45470.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGAM|CCDS45470.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 3 5 6 25 29 25 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760011488 16 31853770 CA C 480 PASS - - - - - Del - D 31853770 31853776 1 21 432.597 - - 5 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 6 4 8 19 25 19 25 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760012012 16 32575000 G GA 300 PASS - - - - - Ins - I 32575000 32575009 1 12 268.115 - - 8 1 1 - - ./. 0 0 0 0 26 22 26 22 0 0 ./. 3 2 5 2 46 26 46 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760012459 16 33413035 AG A 298 PASS - - - - - Del - D 33413035 33413038 1 15 325.351 - - 2 1 1 - - ./. 0 0 0 0 27 41 27 41 0 0 ./. 2 4 3 5 73 58 73 58 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760013540 16 34609844 GT G 480 PASS ENSG00000237113 ENST00000425453 r.? - - Del intronic D 34609844 34609853 1 24 433.199 - - 8 1 1 ENSG00000237113|ENST00000425453|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237113|ENST00000425453|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 5 3 6 22 39 22 39 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760013586 16 34968486 GC G 360 PASS - - - - - Del - D 34968486 34968493 1 16 322.942 - - 6 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 3 4 4 20 29 20 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760013593 16 35003395 G GT 300 PASS - - - - - Ins - I 35003395 35003402 1 12 268.115 - - 6 1 1 - - ./. 0 0 0 0 14 13 14 14 0 0 ./. 2 3 2 4 22 31 22 31 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760013619 16 35164233 CA C 420 PASS - - - - - Del - D 35164233 35164242 1 14 379.576 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 6 3 7 26 24 26 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760013980 16 46461343 TA T 600 PASS - - - - - Del - D 46461343 46461353 1 32 541.047 - - 9 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 7 3 8 3 33 16 33 16 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014074 16 46604240 CA C 300 PASS ANKRD26P1 ENST00000329373 r.? - - Del upstream D 46604240 46604247 1 12 271.125 - - 6 1 1 ANKRD26P1|ENST00000329373|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ANKRD26P1|ENST00000329373|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 2 5 5 22 21 22 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014117 16 46730408 TC T 420 PASS ORC6L CCDS10722.1 r.? - - Del intronic D 46730408 46730414 1 20 378.974 - - 5 1 1 ORC6L|CCDS10722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ORC6L|CCDS10722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 3 6 3 21 27 21 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014170 16 46890393 TA T 420 PASS - - - - - Del - D 46890393 46890401 1 8 378.372 - - 7 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 0 7 0 8 9 28 9 28 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014311 16 47389076 TA T 420 PASS ITFG1 CCDS10728.1 r.? - - Del intronic D 47389076 47389086 1 18 379.576 - - 9 1 1 ITFG1|CCDS10728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITFG1|CCDS10728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 2 7 3 29 27 29 27 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014319 16 47435777 G GT 300 PASS ITFG1 CCDS10728.1 r.? - - Ins intronic I 47435777 47435786 1 12 268.115 - - 8 1 1 ITFG1|CCDS10728.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITFG1|CCDS10728.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 4 4 26 19 26 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014320 16 47446448 GA G 360 PASS ITFG1 CCDS10728.1 r.? - - Del intronic D 47446448 47446457 1 15 324.146 - - 8 1 1 ITFG1|CCDS10728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITFG1|CCDS10728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 4 2 5 18 23 18 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014341 16 47570719 G GA 360 PASS PHKB CCDS42161.1 r.? - - Ins intronic I 47570719 47570728 1 12 321.738 - - 8 1 1 PHKB|CCDS42161.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PHKB|CCDS42161.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 1 5 2 6 28 22 28 23 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014379 16 47850968 TA T 480 PASS - - - - - Del - D 47850968 47850977 1 25 433.801 - - 8 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 4 4 6 6 44 23 44 23 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014383 16 47877404 AC A 300 PASS - - - - - Del - D 47877404 47877413 1 10 270.523 - - 8 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 1 4 2 22 20 22 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014416 16 48191544 G GA 420 PASS - - - - - Ins - I 48191544 48191553 1 20 375.361 - - 8 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 3 5 6 27 28 27 28 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014464 16 48434104 GT G 300 PASS - - - - - Del - D 48434104 48434111 1 12 271.125 - - 6 1 1 - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 2 3 3 5 8 27 8 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014484 16 48494408 GT G 300 PASS - - - - - Del - D 48494408 48494418 1 10 271.125 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 1 5 1 18 4 18 4 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014488 16 48519283 A AT 360 PASS - - - - - Ins - I 48519283 48519292 1 12 313.309 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 5 1 5 18 44 19 45 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014541 16 48799762 CA C 300 PASS - - - - - Del - D 48799762 48799771 1 12 270.523 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 4 3 17 28 17 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014669 16 49313899 CA C 300 PASS CBLN1 CCDS10736.1 r.? - - Del intronic D 49313899 49313908 1 12 270.523 - - 8 1 1 CBLN1|CCDS10736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CBLN1|CCDS10736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 5 19 5 0 0 ./. 2 3 2 5 19 19 19 19 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014709 16 49542267 C CA 360 PASS ZNF423 CCDS32445.1 r.? - - Ins intronic I 49542267 49542274 1 12 321.738 - - 6 1 1 ZNF423|CCDS32445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF423|CCDS32445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 1 5 1 7 15 34 15 34 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760014726 16 49611054 TG T 600 PASS ZNF423 CCDS32445.1 r.? - - Del intronic D 49611054 49611062 1 32 542.251 - - 7 1 1 ZNF423|CCDS32445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF423|CCDS32445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 7 3 8 4 30 27 30 27 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760015172 16 50869967 A AT 300 PASS - - - - - Ins - I 50869967 50869977 1 12 267.513 - - 9 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 3 3 4 29 39 29 40 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760015218 16 51044605 TAC T 420 PASS - - - - - Del - D 51044605 51044624 2 18 377.167 - - 9 1 - - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 5 4 6 21 30 21 30 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760015226 16 51090788 CA C 600 PASS - - - - - Del - D 51090788 51090795 1 32 541.047 - - 6 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 7 3 8 17 29 17 29 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760015332 16 51441674 GA G 360 PASS - - - - - Del - D 51441674 51441684 1 15 325.351 - - 9 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 4 2 5 2 26 22 26 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760015421 16 51744810 GT G 600 PASS - - - - - Del - D 51744810 51744817 1 36 538.639 - - 6 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 5 8 5 32 25 32 25 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760015461 16 51820007 TC T 360 PASS - - - - - Del - D 51820007 51820014 1 15 319.932 - - 6 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 4 4 4 16 22 16 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760015560 16 52124128 ACT A 300 PASS - - - - - Del - D 52124128 52124140 2 12 271.125 - - 5 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 5 2 31 18 31 18 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760015601 16 52308299 C CT 360 PASS AC007333.1 ENST00000515084 r.? - - Ins intronic I 52308299 52308309 1 12 319.33 - - 9 1 1 AC007333.1|ENST00000515084|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC007333.1|ENST00000515084|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 5 5 6 27 38 27 38 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760015617 16 52377731 GT G 300 PASS - - - - - Del - D 52377731 52377741 1 10 270.523 - - 9 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 1 4 1 5 9 23 9 23 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760015869 16 53049805 G GT 360 PASS ENSG00000236037 ENST00000416537 r.? - - Ins intronic I 53049805 53049814 1 12 321.738 - - 8 1 1 ENSG00000236037|ENST00000416537|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000236037|ENST00000416537|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 1 6 2 29 26 30 26 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760015933 16 53180818 AT A 300 PASS CHD9 CCDS45485.1 r.? - - Del intronic D 53180818 53180828 1 10 271.125 - - 9 1 1 CHD9|CCDS45485.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHD9|CCDS45485.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 4 1 5 1 18 16 18 16 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016055 16 53479993 G GT 300 PASS RBL2 CCDS10748.1 r.? - - Ins intronic I 53479993 53480003 1 10 268.115 - - 9 1 1 RBL2|CCDS10748.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBL2|CCDS10748.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 4 1 4 1 34 34 35 34 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016068 16 53516949 TA T 360 PASS RBL2 CCDS10748.1 r.? - - Del intronic D 53516949 53516954 1 16 325.351 - - 4 1 1 RBL2|CCDS10748.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBL2|CCDS10748.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 3 4 4 24 24 24 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016260 16 54176055 C CA 480 PASS - - - - - Ins - I 54176055 54176064 1 16 428.382 - - 8 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 1 7 3 8 21 32 22 34 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016306 16 54316169 CA C 600 PASS IRX3 CCDS10750.1 r.? - - Del downstream D 54316169 54316177 1 36 542.251 - - 7 1 1 IRX3|CCDS10750.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 IRX3|CCDS10750.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 13 5 13 0 0 ./. 5 5 7 7 25 32 25 32 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016343 16 54423652 CT C 329 PASS ENSG00000227093 ENST00000449142 r.? - - Del intronic D 54423652 54423660 1 12 325.351 - - 7 1 1 ENSG00000227093|ENST00000449142|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000227093|ENST00000449142|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 1 5 3 5 24 17 24 17 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016360 16 54463505 TGTG T 480 PASS ENSG00000227093 ENST00000449142 r.? - - Del intronic D 54463505 54463512 3 21 433.801 - - 2 1 1 ENSG00000227093|ENST00000449142|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000227093|ENST00000449142|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 2 9 5 36 26 36 26 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016423 16 54652009 AT A 540 PASS ENSG00000234908 ENST00000414611 r.? - - Del intronic D 54652009 54652019 1 30 488.026 - - 9 1 1 ENSG00000234908|ENST00000414611|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000234908|ENST00000414611|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 5 4 5 6 29 23 29 23 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016448 16 54720709 CA C 660 PASS - - - - - Del - D 54720709 54720717 1 42 595.272 - - 7 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 6 6 6 24 20 24 20 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016477 16 54825014 AT A 389 PASS - - - - - Del - D 54825014 54825024 1 20 379.576 - - 9 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 4 6 4 26 23 26 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016515 16 54934814 C CT 480 PASS - - - - - Ins - I 54934814 54934823 1 24 428.984 - - 8 1 1 - - ./. 0 0 0 0 16 14 16 15 0 0 ./. 5 3 6 3 30 23 30 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016541 16 55006050 CT C 540 PASS - - - - - Del - D 55006050 55006059 1 24 484.414 - - 8 1 - - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 7 2 7 2 27 10 27 10 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016557 16 55059210 CA C 300 PASS - - - - - Del - D 55059210 55059219 1 6 271.125 - - 8 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 0 6 0 20 13 20 13 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016638 16 55392559 GAC G 420 PASS - - - - - Del - D 55392559 55392569 2 18 379.576 - - 4 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 2 5 2 24 30 24 30 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016645 16 55423823 G GA 360 PASS - - - - - Ins - I 55423823 55423831 1 16 321.738 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 3 3 6 20 32 21 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016738 16 55631978 C CA 360 PASS - - - - - Ins - I 55631978 55631982 1 12 321.738 - - 3 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 1 5 1 27 9 27 9 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760016739 16 55632574 TA T 420 PASS - - - - - Del - D 55632574 55632584 1 20 379.576 - - 9 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 3 4 5 7 28 26 28 26 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760017147 16 57079561 GC G 360 PASS NLRC5 CCDS10773.1 r.? - - Del intronic D 57079561 57079570 1 16 325.351 - - 8 1 1 NLRC5|CCDS10773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NLRC5|CCDS10773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 3 3 3 19 30 19 30 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760017228 16 57299575 TTCTA T 327 PASS PLLP CCDS10777.1 r.? - - Del intronic D 57299575 57299583 4 20 379.576 - - 1 1 1 PLLP|CCDS10777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLLP|CCDS10777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 4 4 4 29 32 29 32 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760017425 16 57892518 CT C 300 PASS - - - - - Del - D 57892518 57892528 1 10 271.125 - - 9 1 1 - - ./. 0 0 0 0 8 3 8 3 0 0 ./. 1 4 1 6 23 32 23 32 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760017465 16 57975181 C CA 300 PASS CNGB1 CCDS42169.1 r.? - - Ins intronic I 57975181 57975182 1 10 268.115 - - 0 1 1 CNGB1|CCDS42169.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNGB1|CCDS42169.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 1 6 3 22 20 23 20 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760017599 16 58347730 TA T 300 PASS - - - - - Del - D 58347730 58347738 1 12 266.911 - - 7 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 2 5 3 22 27 22 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760017620 16 58415100 CT C 360 PASS - - - - - Del - D 58415100 58415110 1 12 322.942 - - 9 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 5 1 6 11 23 11 23 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760017646 16 58473248 CT C 420 PASS - - - - - Del - D 58473248 58473257 1 8 377.77 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 0 7 1 9 25 30 25 30 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760017796 16 58808082 GA G 660 PASS AC106793.1 ENST00000500117 r.? - - Del intronic D 58808082 58808092 1 42 596.476 - - 9 1 1 AC106793.1|ENST00000500117|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC106793.1|ENST00000500117|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 6 6 7 26 35 26 35 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760017896 16 59143198 CA C 540 PASS AC106793.1 ENST00000500117 r.? - - Del downstream D 59143198 59143205 1 30 487.424 - - 6 1 1 AC106793.1|ENST00000500117|r.?|-|-|non_protein_coding:deletion:500B_downstream_variant|SO:0000011:SO:0000159:SO:0001634 AC106793.1|ENST00000500117|r.?|-|-|non_protein_coding:deletion:500B_downstream_variant|SO:0000011:SO:0000159:SO:0001634 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 4 5 4 26 29 26 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018097 16 59842543 C CA 360 PASS - - - - - Ins - I 59842543 59842550 1 15 321.738 - - 6 1 1 - - ./. 0 0 0 0 20 17 20 18 0 0 ./. 2 4 4 6 22 30 22 30 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018111 16 59899829 CA C 480 PASS AC009094.1 ENST00000500445 r.? - - Del intronic D 59899829 59899839 1 24 433.801 - - 9 1 1 AC009094.1|ENST00000500445|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC009094.1|ENST00000500445|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 3 5 5 21 19 21 19 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018183 16 60152428 T TG 300 PASS - - - - - Ins - I 60152428 60152436 1 10 268.115 - - 7 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 4 1 4 1 14 15 15 15 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018188 16 60170178 A AT 480 PASS - - - - - Ins - I 60170178 60170186 1 24 427.78 - - 7 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 5 3 6 30 22 30 23 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018278 16 60365034 CA C 420 PASS - - - - - Del - D 60365034 60365043 1 18 379.576 - - 8 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 2 8 2 37 11 37 11 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018315 16 60455430 CT C 360 PASS - - - - - Del - D 60455430 60455436 1 16 325.351 - - 5 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 3 5 6 17 34 17 34 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018505 16 61055810 TTC T 360 PASS - - - - - Del - D 61055810 61055827 2 16 325.351 - - 8 1 - - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 4 3 31 31 31 31 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018593 16 61528042 CA C 329 PASS - - - - - Del - D 61528042 61528052 1 15 324.749 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 2 4 4 18 26 18 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018603 16 61574068 CT C 300 PASS - - - - - Del - D 61574068 61574078 1 12 271.125 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 3 6 19 20 19 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018645 16 61674788 C CA 420 PASS - - - - - Ins - I 61674788 61674796 1 18 375.361 - - 7 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 5 2 6 3 38 34 38 34 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018723 16 61941417 TA T 360 PASS CDH8 CCDS10802.1 r.? - - Del intronic D 61941417 61941426 1 15 324.749 - - 8 1 1 CDH8|CCDS10802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH8|CCDS10802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 4 3 5 10 38 10 38 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018729 16 61963627 CA C 329 PASS CDH8 CCDS10802.1 r.? - - Del intronic D 61963627 61963636 1 15 325.351 - - 8 1 1 CDH8|CCDS10802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH8|CCDS10802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 4 1 4 18 18 18 18 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018737 16 62009161 AAG A 540 PASS CDH8 CCDS10802.1 r.? - - Del intronic D 62009161 62009175 2 28 488.026 - - 6 1 - CDH8|CCDS10802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH8|CCDS10802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 6 5 7 21 30 21 30 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018747 16 62055350 AT A 360 PASS CDH8 CCDS10802.1 r.912delA c.? p.? Del 5'UTR variant D 62055350 62055359 1 12 325.351 - - 8 1 1 CDH8|CCDS10802.1|r.912delA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 CDH8|CCDS10802.1|r.912delA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 1 5 1 30 21 30 21 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018829 16 62368567 GAC G 300 PASS - - - - - Del - D 62368567 62368573 2 10 271.125 - - 2 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 1 4 2 5 15 23 15 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018863 16 62467770 A AT 480 PASS - - - - - Ins - I 62467770 62467778 1 21 425.974 - - 7 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 2 8 2 25 16 25 16 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760018995 16 62780978 G GT 360 PASS - - - - - Ins - I 62780978 62780987 1 7 321.738 - - 8 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 0 6 0 7 10 28 10 28 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019033 16 62900683 G GA 420 PASS - - - - - Ins - I 62900683 62900692 1 14 375.361 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 1 6 2 28 32 28 32 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019163 16 63260279 TA T 389 PASS - - - - - Del - D 63260279 63260289 1 18 378.974 - - 9 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 5 2 5 15 27 15 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019197 16 63348513 TA T 300 PASS - - - - - Del - D 63348513 63348522 1 10 269.319 - - 8 1 1 - - ./. 0 0 0 0 10 21 10 21 0 0 ./. 1 4 2 5 17 27 17 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019322 16 63914281 GT G 360 PASS - - - - - Del - D 63914281 63914289 1 15 320.534 - - 7 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 2 5 3 30 18 30 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019377 16 64269867 CT C 480 PASS - - - - - Del - D 64269867 64269876 1 24 433.801 - - 8 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 5 3 9 22 29 22 29 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019384 16 64304784 G GA 480 PASS - - - - - Ins - I 64304784 64304794 1 24 427.78 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 5 4 5 17 18 17 19 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019503 16 64729859 AC A 420 PASS - - - - - Del - D 64729859 64729861 1 20 378.974 - - 1 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 4 3 5 3 28 30 28 30 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019646 16 65207558 AT A 300 PASS - - - - - Del - D 65207558 65207564 1 10 270.523 - - 5 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 1 5 2 14 20 14 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019861 16 65979465 CA C 596 PASS - - - - - Del - D 65979465 65979474 1 49 650.099 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 6 8 6 27 29 27 29 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019873 16 66007642 CA C 360 PASS - - - - - Del - D 66007642 66007652 1 15 325.351 - - 9 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 2 4 4 30 21 30 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019886 16 66045302 CT C 300 PASS - - - - - Del - D 66045302 66045311 1 10 271.125 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 1 4 2 23 26 23 26 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760019934 16 66234159 CA C 660 PASS - - - - - Del - D 66234159 66234168 1 36 594.068 - - 8 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 8 3 11 3 31 29 31 29 11 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020020 16 66630959 GT G 329 PASS - - - - - Del - D 66630959 66630966 1 16 324.749 - - 6 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 3 5 3 27 25 27 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020086 16 66797535 CT C 480 PASS ENSG00000249961 ENST00000503866 r.? - - Del intronic D 66797535 66797543 1 21 428.984 - - 7 1 1 ENSG00000249961|ENST00000503866|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000249961|ENST00000503866|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 6 3 7 23 31 23 31 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020107 16 66839137 G GT 269 PASS NAE1 CCDS42171.1 r.? - - Ins intronic I 66839137 66839144 1 12 268.115 - - 6 1 1 NAE1|CCDS42171.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NAE1|CCDS42171.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 3 4 34 28 35 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020225 16 67347360 AT A 420 PASS KCTD19 CCDS42179.1 r.? - - Del intronic D 67347360 67347369 1 20 379.576 - - 8 1 1 KCTD19|CCDS42179.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCTD19|CCDS42179.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 4 3 5 19 31 19 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020371 16 67811128 GA G 420 PASS RANBP10 CCDS32469.1 r.? - - Del intronic D 67811128 67811137 1 18 378.372 - - 8 1 1 RANBP10|CCDS32469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RANBP10|CCDS32469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 2 5 2 6 4 26 4 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020390 16 67871701 T TA 360 PASS CENPT CCDS42182.1 r.? - - Ins upstream I 67871701 67871710 1 15 320.534 - - 8 1 1 CENPT|CCDS42182.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CENPT|CCDS42182.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 2 4 2 25 25 25 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020426 16 68042272 CT C 269 PASS - - - - - Del - D 68042272 68042281 1 6 257.278 - - 8 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 0 5 0 5 1 27 1 28 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020492 16 68270742 CAG C 300 PASS ESRP2 CCDS10863.1 r.? - - Del upstream D 68270742 68270749 2 6 271.125 - - 3 1 1 ESRP2|CCDS10863.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ESRP2|CCDS10863.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 0 5 2 28 26 28 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020520 16 68337331 CA C 360 PASS SLC7A6 CCDS32470.1 r.? - - Del downstream D 68337331 68337337 1 15 325.351 - - 5 1 1 SLC7A6|CCDS32470.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SLC7A6OS|CCDS10865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 4 2 4 14 25 14 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020551 16 68411198 GA G 660 PASS SMPD3 CCDS10867.1 r.? - - Del intronic D 68411198 68411203 1 22 596.476 - - 4 1 1 SMPD3|CCDS10867.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SMPD3|CCDS10867.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 2 12 2 0 0 ./. 10 1 14 1 44 18 44 18 14 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020554 16 68422592 G GT 300 PASS SMPD3 CCDS10867.1 r.? - - Ins intronic I 68422592 68422600 1 10 268.115 - - 7 1 1 SMPD3|CCDS10867.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SMPD3|CCDS10867.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 15 4 15 0 0 ./. 4 1 6 3 29 27 29 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760020782 16 68917318 GT G 360 PASS TMCO7 CCDS45516.1 r.? - - Del intronic D 68917318 68917327 1 15 325.351 - - 8 1 1 TMCO7|CCDS45516.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMCO7|CCDS45516.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 15 5 15 0 0 ./. 4 2 5 2 26 10 26 10 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760021149 16 69842151 CT C 300 PASS WWP2 CCDS10885.1 r.? - - Del intronic D 69842151 69842159 1 10 270.523 - - 7 1 1 WWP2|CCDS10885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWP2|CCDS10885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 1 4 1 5 3 31 3 31 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760021192 16 69914886 CT C 300 PASS WWP2 CCDS10885.1 r.? - - Del intronic D 69914886 69914895 1 12 271.125 - - 8 1 1 WWP2|CCDS10885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWP2|CCDS10885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 3 2 4 23 24 23 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760021421 16 70370758 AT A 300 PASS DDX19B CCDS10888.1 r.? - - Del downstream D 70370758 70370768 1 12 270.523 - - 9 1 1 DDX19B|CCDS10888.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AC012184.1|ENST00000502022|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 3 2 4 3 28 24 28 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760021464 16 70494316 CT C 389 PASS FUK CCDS10891.2 r.? - - Del intronic D 70494316 70494326 1 18 372.953 - - 9 1 1 FUK|CCDS10891.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FUK|CCDS10891.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 2 9 3 29 20 29 20 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760021712 16 71035672 AGTGAG A 290 PASS HYDIN2 CCDS42189.1 r.? - - Del intronic D 71035672 71035680 5 32 541.649 - - 1 1 1 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 15 22 15 0 0 ./. 3 7 3 7 58 53 58 53 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760021763 16 71090923 G GT 420 PASS HYDIN2 CCDS42189.1 r.? - - Ins intronic I 71090923 71090933 1 18 375.361 - - 9 1 1 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 11 28 11 0 0 ./. 2 5 2 5 36 50 36 50 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760021925 16 71475152 CT C 300 PASS - - - - - Del - D 71475152 71475161 1 10 271.125 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 1 6 5 35 28 35 28 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760021957 16 71594778 G GA 420 PASS TAT CCDS10903.1 r.? - - Ins downstream I 71594778 71594787 1 20 375.361 - - 8 1 1 TAT|CCDS10903.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TAT|CCDS10903.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 3 5 3 16 23 16 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760022066 16 71940640 CT C 300 PASS KIAA0174 CCDS10905.1 r.? - - Del intronic D 71940640 71940649 1 12 271.125 - - 8 1 1 KIAA0174|CCDS10905.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA0174|CCDS10905.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 4 4 23 31 23 31 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760022074 16 71968386 CAG C 300 PASS PKD1L3 ENST00000335106 r.? - - Del intronic D 71968386 71968395 2 10 271.125 - - 4 1 1 PKD1L3|ENST00000335106|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKD1L3|ENST00000335106|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 1 4 3 27 29 27 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760022327 16 73007772 CA C 480 PASS ZFHX3 CCDS10908.1 r.? - - Del intronic D 73007772 73007782 1 25 433.801 - - 9 1 1 ZFHX3|CCDS10908.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZFHX3|CCDS10908.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 14 5 14 0 0 ./. 4 4 7 8 28 30 28 30 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760022362 16 73094439 TC T 360 PASS - - - - - Del - D 73094439 73094448 1 15 319.33 - - 8 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 2 4 3 5 24 15 24 15 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760022436 16 73314304 CA C 360 PASS - - - - - Del - D 73314304 73314312 1 12 325.351 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 1 5 1 6 30 35 30 35 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760022440 16 73331096 AT A 420 PASS - - - - - Del - D 73331096 73331103 1 14 377.167 - - 6 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 6 1 8 1 30 15 30 15 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760022609 16 73750799 A AT 600 PASS - - - - - Ins - I 73750799 73750808 1 35 519.373 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 6 5 7 22 30 23 30 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760023078 16 74883631 AGC A 300 PASS - - - - - Del - D 74883631 74883635 2 12 271.125 - - 1 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 2 5 4 43 33 43 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760023090 16 74904748 TG T 360 PASS WDR59 CCDS32488.1 r.? - - Del downstream D 74904748 74904756 1 15 324.146 - - 7 1 1 WDR59|CCDS32488.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 WDR59|CCDS32488.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 2 4 2 32 28 32 28 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760023146 16 75017077 C CA 300 PASS WDR59 CCDS32488.1 r.? - - Ins intronic I 75017077 75017084 1 12 268.115 - - 6 1 1 WDR59|CCDS32488.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR59|CCDS32488.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 2 4 3 24 26 24 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760023189 16 75094897 TA T 300 PASS ZNRF1 CCDS10912.1 r.? - - Del intronic D 75094897 75094906 1 10 271.125 - - 8 1 1 ZNRF1|CCDS10912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNRF1|CCDS10912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 19 9 19 0 0 ./. 4 1 6 1 17 13 17 13 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760023196 16 75115947 CT C 360 PASS ZNRF1 CCDS10912.1 r.? - - Del intronic D 75115947 75115956 1 15 325.351 - - 8 1 1 ZNRF1|CCDS10912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNRF1|CCDS10912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 4 5 4 21 28 21 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760023484 16 75773633 C CT 329 PASS - - - - - Ins - I 75773633 75773642 1 16 321.738 - - 8 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 4 4 19 36 19 37 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760023598 16 76274952 CA C 300 PASS - - - - - Del - D 76274952 76274961 1 12 265.707 - - 8 1 - - - ./. 0 0 0 0 25 14 25 14 0 0 ./. 2 3 6 5 24 32 24 32 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760023734 16 76838949 AG A 329 PASS - - - - - Del - D 76838949 76838958 1 16 317.524 - - 8 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 3 3 4 4 25 20 25 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760023740 16 76861352 A AT 300 PASS - - - - - Ins - I 76861352 76861359 1 10 268.115 - - 6 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 4 6 4 37 24 38 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760023901 16 77336774 GA G 360 PASS ADAMTS18 CCDS10926.1 r.? - - Del intronic D 77336774 77336784 1 16 325.351 - - 9 1 1 ADAMTS18|CCDS10926.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS18|CCDS10926.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 3 3 3 18 37 18 37 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760023969 16 77523514 AT A 480 PASS - - - - - Del - D 77523514 77523524 1 25 433.199 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 4 5 4 26 20 26 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024038 16 77681232 TG T 300 PASS - - - - - Del - D 77681232 77681239 1 6 271.125 - - 6 1 1 - - ./. 0 0 0 0 23 6 23 6 0 0 ./. 5 0 7 0 26 7 26 7 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024114 16 77879253 TC T 660 PASS VAT1L CCDS32492.1 r.? - - Del intronic D 77879253 77879259 1 40 591.66 - - 5 1 1 VAT1L|CCDS32492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VAT1L|CCDS32492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 7 5 7 18 34 18 34 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024132 16 77942514 T TC 418 PASS VAT1L CCDS32492.1 r.? - - Ins intronic I 77942514 77942516 1 25 425.974 - - 1 1 1 VAT1L|CCDS32492.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VAT1L|CCDS32492.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 4 4 4 24 16 26 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024294 16 78339101 AT A 420 PASS WWOX CCDS42196.1 r.? - - Del intronic D 78339101 78339111 1 14 379.576 - - 9 1 1 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 18 6 18 0 0 ./. 6 1 7 1 23 27 23 27 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024419 16 78663134 TTA T 269 PASS WWOX CCDS42196.1 r.? - - Del intronic D 78663134 78663138 2 12 265.707 - - 1 1 1 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 2 3 3 3 22 31 22 31 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024420 16 78663135 TA T 360 PASS WWOX CCDS42196.1 r.? - - Del intronic D 78663135 78663137 1 16 315.718 - - 1 1 1 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 3 7 5 22 31 22 31 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024456 16 78740702 CT C 360 PASS WWOX CCDS42196.1 r.? - - Del intronic D 78740702 78740712 1 16 325.351 - - 9 1 1 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 3 5 3 25 31 25 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024512 16 78880588 AT A 360 PASS WWOX CCDS42196.1 r.? - - Del intronic D 78880588 78880596 1 15 315.718 - - 7 1 1 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 4 5 4 28 22 28 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024549 16 78939289 AT A 300 PASS WWOX CCDS42196.1 r.? - - Del intronic D 78939289 78939297 1 12 271.125 - - 7 1 1 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 3 2 22 23 22 23 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024655 16 79232300 CT C 360 PASS WWOX CCDS42196.1 r.? - - Del intronic D 79232300 79232308 1 15 325.351 - - 7 1 1 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 4 2 5 4 16 21 16 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024688 16 79304970 AT A 300 PASS - - - - - Del - D 79304970 79304980 1 12 271.125 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 5 3 27 23 27 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024697 16 79319349 GT G 420 PASS - - - - - Del - D 79319349 79319355 1 8 379.576 - - 5 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 7 0 9 0 30 3 30 3 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024907 16 80024273 CA C 360 PASS - - - - - Del - D 80024273 80024281 1 7 325.351 - - 7 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 0 6 3 6 22 35 22 35 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024919 16 80106895 G GA 540 PASS - - - - - Ins - I 80106895 80106904 1 30 482.607 - - 8 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 4 5 4 29 25 30 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760024944 16 80237612 CA C 480 PASS - - - - - Del - D 80237612 80237618 1 24 433.801 - - 5 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 3 5 5 9 31 33 31 33 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025073 16 80673520 CA C 420 PASS CDYL2 CCDS32493.1 r.? - - Del intronic D 80673520 80673530 1 14 377.167 - - 9 1 1 CDYL2|CCDS32493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDYL2|CCDS32493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 6 1 6 2 27 22 27 22 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025231 16 81126347 CA C 660 PASS GCSH CCDS10933.1 r.? - - Del intronic D 81126347 81126356 1 30 594.67 - - 8 1 1 GCSH|CCDS10933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GCSH|CCDS10933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 23 13 23 0 0 ./. 2 9 2 11 27 33 27 33 2 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025286 16 81196098 AT A 540 PASS PKD1L2 ENST00000299598 r.? - - Del intronic D 81196098 81196107 1 28 488.026 - - 8 1 1 PKD1L2|ENST00000299598|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 PKD1L2|ENST00000299598|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 3 7 8 35 29 35 29 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025387 16 81443588 TA T 360 PASS - - - - - Del - D 81443588 81443596 1 12 325.351 - - 7 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 1 5 1 33 23 33 23 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025434 16 81629640 CT C 480 PASS - - - - - Del - D 81629640 81629650 1 16 429.586 - - 9 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 7 1 10 3 34 34 34 34 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025710 16 82399880 C CT 840 PASS - - - - - Ins - I 82399880 82399888 1 60 750.723 - - 7 1 1 - - ./. 0 0 0 0 15 5 15 5 0 0 ./. 9 5 9 7 36 33 36 33 9 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025753 16 82613854 TTG T 480 PASS - - - - - Del - D 82613854 82613868 2 16 431.995 - - 6 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 7 1 6 22 27 22 27 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025770 16 82679961 AT A 360 PASS - - - - - Del - D 82679961 82679971 1 15 324.749 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 4 4 6 34 25 34 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025798 16 82779208 CA C 389 PASS - - - - - Del - D 82779208 82779217 1 14 378.974 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 6 1 8 23 29 23 29 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025845 16 82921461 GT G 300 PASS CDH13 ENST00000268613 r.? - - Del intronic D 82921461 82921471 1 12 269.921 - - 9 1 1 CDH13|ENST00000268613|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH13|ENST00000268613|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 2 3 2 31 28 31 28 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025851 16 82926340 CT C 300 PASS CDH13 ENST00000268613 r.? - - Del intronic D 82926340 82926350 1 12 271.125 - - 9 1 1 CDH13|ENST00000268613|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH13|ENST00000268613|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 3 3 3 15 25 15 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760025938 16 83245516 GA G 420 PASS CDH13 ENST00000268613 r.? - - Del intronic D 83245516 83245526 1 20 379.576 - - 9 1 1 CDH13|ENST00000268613|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH13|ENST00000268613|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 4 5 4 28 26 28 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760026213 16 83955771 GC G 300 PASS ENSG00000229561 ENST00000412414 r.? - - Del intronic D 83955771 83955779 1 12 269.921 - - 7 1 1 ENSG00000229561|ENST00000412414|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000229561|ENST00000412414|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 2 3 3 3 23 20 23 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760026231 16 84025988 CG C 420 PASS NECAB2 CCDS10940.1 r.? - - Del intronic D 84025988 84025990 1 18 376.565 - - 1 1 1 NECAB2|CCDS10940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NECAB2|CCDS10940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 2 5 5 6 30 27 30 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760026355 16 84344295 A AT 360 PASS WFDC1 CCDS10946.1 r.? - - Ins intronic I 84344295 84344303 1 12 321.738 - - 7 1 1 WFDC1|CCDS10946.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WFDC1|CCDS10946.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 1 5 1 8 17 26 17 26 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760026395 16 84408020 GC G 420 PASS ATP2C2 CCDS42207.1 r.? - - Del intronic D 84408020 84408027 1 18 379.576 - - 6 1 1 ATP2C2|CCDS42207.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP2C2|CCDS42207.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 5 4 6 22 27 22 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760026557 16 84761240 CTCTG C 869 PASS USP10 CCDS45537.1 r.? - - Del intronic D 84761240 84761249 4 70 813.376 - - 2 1 - USP10|CCDS45537.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP10|CCDS45537.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 6 17 6 0 0 ./. 9 6 9 9 37 32 37 32 9 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760026677 16 84990732 TG T 360 PASS - - - - - Del - D 84990732 84990738 1 15 325.351 - - 5 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 6 2 18 23 18 23 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760026856 16 85507385 AG A 300 PASS - - - - - Del - D 85507385 85507393 1 12 269.921 - - 7 1 1 - - ./. 0 0 0 0 17 5 17 5 0 0 ./. 3 2 4 2 33 20 33 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760026897 16 85645730 CG C 360 PASS KIAA0182 CCDS10952.1 r.? - - Del upstream D 85645730 85645738 1 15 325.351 - - 7 1 1 KIAA0182|CCDS10952.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KIAA0182|CCDS45539.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 4 3 6 13 19 13 19 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760027171 16 86351666 CG C 480 PASS - - - - - Del - D 86351666 86351674 1 16 433.199 - - 7 1 1 - - ./. 0 0 0 0 9 3 9 3 0 0 ./. 1 7 2 9 25 27 25 27 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760027179 16 86376227 TA T 480 PASS ENSG00000168367 ENST00000304488 r.? - - Del intronic D 86376227 86376235 1 24 433.801 - - 7 1 1 ENSG00000168367|ENST00000304488|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000168367|ENST00000304488|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 3 7 4 35 19 35 19 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760027250 16 86599278 CA C 509 PASS FOXC2 CCDS10958.1 r.? - - Del upstream D 86599278 86599287 1 18 488.026 - - 8 1 1 FOXC2|CCDS10958.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 FOXC2|CCDS10958.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 5 10 5 0 0 ./. 1 8 3 8 20 25 20 25 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760027578 16 87508153 TA T 300 PASS ZCCHC14 CCDS10961.1 r.? - - Del intronic D 87508153 87508161 1 12 268.717 - - 7 1 1 ZCCHC14|CCDS10961.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZCCHC14|CCDS10961.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 3 2 16 23 16 23 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760027750 16 87944193 CT C 360 PASS CA5A CCDS10965.1 r.? - - Del intronic D 87944193 87944203 1 15 325.351 - - 9 1 1 CA5A|CCDS10965.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CA5A|CCDS10965.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 4 6 25 28 25 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760027897 16 88293571 CT C 360 PASS - - - - - Del - D 88293571 88293581 1 12 325.351 - - 9 1 1 - - ./. 0 0 0 0 18 5 18 5 0 0 ./. 5 1 5 2 30 24 30 24 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760027925 16 88460301 C CA 389 PASS - - - - - Ins - I 88460301 88460305 1 20 369.943 - - 3 1 1 - - ./. 0 0 0 0 15 6 16 6 0 0 ./. 3 4 3 4 23 24 23 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760027943 16 88491733 AG A 420 PASS ZNF469 CCDS45544.1 r.? - - Del upstream D 88491733 88491740 1 18 379.576 - - 6 1 1 ZNF469|CCDS45544.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZNF469|CCDS45544.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 5 10 5 10 0 0 ./. 5 2 5 2 27 15 27 15 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760027991 16 88671097 GA G 269 PASS ZC3H18 CCDS10967.1 r.? - - Del intronic D 88671097 88671107 1 12 270.523 - - 9 1 1 ZC3H18|CCDS10967.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZC3H18|CCDS10967.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 2 3 26 29 26 29 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760028040 16 88813923 CA C 360 PASS ENSG00000182376 ENST00000333666 r.? - - Del downstream D 88813923 88813932 1 12 325.351 - - 8 1 1 ENSG00000182376|ENST00000333666|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000182376|ENST00000333666|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 5 1 5 16 26 16 26 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760028077 16 88917765 CT C 420 PASS GALNS CCDS10970.1 r.? - - Del intronic D 88917765 88917775 1 18 378.372 - - 9 1 1 GALNS|CCDS10970.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNS|CCDS10970.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 13 3 13 0 0 ./. 2 5 3 5 21 21 21 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760028102 16 89044342 GA G 540 PASS CBFA2T3 CCDS10972.1 r.? - - Del upstream D 89044342 89044350 1 28 488.026 - - 7 1 1 CBFA2T3|CCDS10972.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CBFA2T3|CCDS10972.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 5 6 5 6 0 0 ./. 6 3 7 5 35 26 35 26 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760028272 16 89577242 GT G 300 PASS SPG7 CCDS10977.1 r.? - - Del intronic D 89577242 89577249 1 10 271.125 - - 6 1 1 SPG7|CCDS10977.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPG7|CCDS10977.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 1 5 1 25 20 25 20 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760028367 16 89784120 CT C 300 PASS ZNF276 CCDS45554.1 r.? - - Del upstream D 89784120 89784124 1 10 271.125 - - 3 1 1 ZNF276|CCDS45554.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 C16orf7|CCDS42220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 1 4 3 6 27 27 27 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760029142 17 1234007 CA C 509 PASS - - - - - Del - D 1234007 1234017 1 28 475.222 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 6 3 6 15 27 15 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760029277 17 1431875 TA T 311 PASS PITPNA CCDS45563.1 r.? - - Del intronic D 1431875 1431883 1 15 325.244 - - 7 1 1 PITPNA|CCDS45563.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PITPNA|CCDS45563.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 2 4 2 19 20 19 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760029322 17 1517547 AC A 300 PASS SLC43A2 CCDS11006.1 r.? - - Del intronic D 1517547 1517549 1 10 271.036 - - 1 1 1 SLC43A2|CCDS11006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC43A2|CCDS11006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 4 1 5 1 18 29 18 29 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760029539 17 1904547 GT G 300 PASS RTN4RL1 CCDS45569.1 r.? - - Del intronic D 1904547 1904557 1 12 270.434 - - 9 1 1 RTN4RL1|CCDS45569.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RTN4RL1|CCDS45569.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 4 3 17 23 17 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760029751 17 2442598 CT C 300 PASS - - - - - Del - D 2442598 2442607 1 12 269.832 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 3 2 20 25 20 25 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760029917 17 2774806 TG T 360 PASS RAP1GAP2 CCDS45573.1 r.? - - Del intronic D 2774806 2774811 1 15 325.244 - - 4 1 1 RAP1GAP2|CCDS45573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAP1GAP2|CCDS45573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 5 5 5 0 0 ./. 2 4 3 4 26 27 26 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760029919 17 2777249 TG T 269 PASS RAP1GAP2 CCDS45573.1 r.? - - Del intronic D 2777249 2777259 1 6 269.23 - - 9 1 1 RAP1GAP2|CCDS45573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAP1GAP2|CCDS45573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 5 0 6 0 31 6 31 6 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760030166 17 3487578 CA C 300 PASS TRPV1 CCDS45576.1 r.? - - Del intronic D 3487578 3487588 1 12 271.036 - - 9 1 1 TRPV1|CCDS45576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPV1|CCDS45576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 4 3 25 18 25 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760030313 17 3781043 AG A 420 PASS CAMKK1 CCDS11038.1 r.? - - Del intronic D 3781043 3781050 1 18 378.849 - - 6 1 1 CAMKK1|CCDS11038.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMKK1|CCDS11038.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 2 5 2 6 23 32 23 32 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760030359 17 3974805 TA T 420 PASS ZZEF1 CCDS11043.1 r.? - - Del intronic D 3974805 3974814 1 20 378.849 - - 8 1 1 ZZEF1|CCDS11043.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZZEF1|CCDS11043.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 3 4 5 23 24 23 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760030504 17 4284058 GC G 277 PASS - - - - - Del - D 4284058 4284066 1 6 269.832 - - 7 1 1 - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 0 5 1 7 8 32 8 32 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760030751 17 4704435 GCA G 480 PASS PSMB6 CCDS11056.1 r.? - - Del downstream D 4704435 4704450 2 25 429.444 - - 7 1 1 PSMB6|CCDS11056.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PSMB6|CCDS11056.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 4 5 4 27 22 27 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760030885 17 5004729 A AG 360 PASS ZNF232 CCDS11068.1 r.? - - Ins downstream I 5004729 5004730 1 16 321.631 - - 0 1 - ZNF232|CCDS11068.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ZNF232|CCDS11068.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 3 4 4 22 17 23 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760030920 17 5082509 CCT C 360 PASS USP6 CCDS11069.2 r.? - - Del downstream D 5082509 5082522 2 15 323.437 - - 6 1 1 USP6|CCDS11069.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 USP6|CCDS11069.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 3 10 3 10 0 0 ./. 4 2 4 3 21 17 21 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760030977 17 5169494 T TA 360 PASS - - - - - Ins - I 5169494 5169500 1 15 321.029 - - 5 1 1 - - ./. 0 0 0 0 23 9 23 9 0 0 ./. 2 4 2 6 22 18 22 18 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031303 17 5898418 TG T 540 PASS - - - - - Del - D 5898418 5898424 1 28 487.865 - - 5 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 6 3 7 4 28 17 28 17 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031490 17 6462942 GC G 480 PASS PITPNM3 CCDS11076.1 r.? - - Del upstream D 6462942 6462949 1 21 433.658 - - 6 1 1 PITPNM3|CCDS11076.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PITPNM3|CCDS11076.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 6 5 7 23 40 23 40 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031533 17 6622970 TG T 300 PASS - - - - - Del - D 6622970 6622980 1 12 271.036 - - 9 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 3 2 3 2 24 22 24 22 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031538 17 6656449 AC A 300 PASS XAF1 CCDS11080.1 r.? - - Del upstream D 6656449 6656456 1 6 271.036 - - 6 1 1 XAF1|CCDS11080.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 XAF1|CCDS11080.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 6 7 6 7 0 0 ./. 0 5 0 5 21 24 21 24 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031586 17 6771544 GA G 300 PASS - - - - - Del - D 6771544 6771552 1 6 271.036 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 0 6 1 21 17 21 17 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031704 17 7031483 CA C 300 PASS - - - - - Del - D 7031483 7031493 1 6 271.036 - - 9 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 5 0 7 1 23 7 23 7 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031720 17 7065882 CT C 329 PASS - - - - - Del - D 7065882 7065891 1 15 324.039 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 2 4 5 17 12 17 12 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031748 17 7145813 G GC 300 PASS PHF23 CCDS42250.1 r.? - - Ins upstream I 7145813 7145822 1 12 267.424 - - 8 1 1 PHF23|CCDS42250.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 PHF23|CCDS42250.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 2 3 3 24 17 24 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031815 17 7316098 G GA 300 PASS NLGN2 CCDS11103.1 r.? - - Ins intronic I 7316098 7316108 1 10 268.026 - - 9 1 1 NLGN2|CCDS11103.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NLGN2|CCDS11103.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 1 4 6 4 27 25 27 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031920 17 7538614 CA C 540 PASS SHBG CCDS11117.1 r.? - - Del downstream D 7538614 7538624 1 28 487.865 - - 9 1 - SHBG|CCDS11117.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SHBG|CCDS11117.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 3 6 3 32 29 32 29 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031935 17 7556715 G GT 480 PASS ATP1B2 CCDS32550.1 r.719_720insu c.136_137insT p.Y48fs*42 Ins frameshift I 7556715 7556722 1 24 428.842 - - 6 1 1 ATP1B2|CCDS32550.1|r.719_720insu|c.136_137insT|p.Y48fs*42|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ATP1B2|CCDS32550.1|r.719_720insu|c.136_137insT|p.Y48fs*42|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 3 6 5 40 15 40 15 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760031976 17 7635677 CG C 387 PASS DNAH2 CCDS32551.1 r.? - - Del intronic D 7635677 7635684 1 25 433.658 - - 6 1 1 DNAH2|CCDS32551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH2|CCDS32551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 4 5 5 21 16 21 16 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760032100 17 7931445 AAAAC A 420 PASS - - - - - Del - D 7931445 7931465 4 20 378.849 - - 4 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 4 4 4 35 27 35 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760032191 17 8131702 TCTC T 298 PASS C17orf68 CCDS42259.1 r.? - - Del intronic D 8131702 8131710 3 7 324.039 - - 2 1 1 C17orf68|CCDS42259.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C17orf68|CCDS42259.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 0 6 0 7 22 26 22 26 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760032361 17 8439859 G GA 300 PASS MYH10 CCDS11144.1 r.? - - Ins intronic I 8439859 8439867 1 12 268.026 - - 7 1 1 MYH10|CCDS11144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYH10|CCDS11144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 6 2 20 10 21 10 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760032470 17 8716773 C CA 300 PASS - - - - - Ins - I 8716773 8716782 1 10 268.026 - - 8 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 1 4 1 29 12 29 13 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760032851 17 9528454 CA C 360 PASS WDR16 CCDS11149.2 r.? - - Del intronic D 9528454 9528461 1 16 325.244 - - 6 1 1 WDR16|CCDS11149.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR16|CCDS11149.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 3 5 3 26 21 26 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760032994 17 9886092 CA C 360 PASS GAS7 CCDS11152.1 r.? - - Del intronic D 9886092 9886102 1 15 323.437 - - 9 1 - GAS7|CCDS11152.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAS7|CCDS11152.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 4 4 4 24 26 24 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033075 17 10063589 TA T 480 PASS GAS7 CCDS11152.1 r.? - - Del intronic D 10063589 10063599 1 16 433.658 - - 9 1 1 GAS7|CCDS11152.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAS7|CCDS11152.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 19 4 19 0 0 ./. 1 7 1 8 15 25 15 25 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033080 17 10077095 GA G 420 PASS GAS7 CCDS11152.1 r.? - - Del intronic D 10077095 10077105 1 20 364.399 - - 9 1 1 GAS7|CCDS11152.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAS7|CCDS11152.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 4 3 5 19 28 19 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033155 17 10193006 TC T 420 PASS - - - - - Del - D 10193006 10193011 1 20 378.247 - - 4 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 3 7 4 34 20 34 20 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033197 17 10347548 GA G 360 PASS MYH4 CCDS11154.1 r.? - - Del intronic D 10347548 10347558 1 12 324.039 - - 9 1 1 MYH4|CCDS11154.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYH4|CCDS11154.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 1 8 2 28 15 28 15 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033309 17 10679585 GA G 329 PASS - - - - - Del - D 10679585 10679595 1 15 325.244 - - 9 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 4 4 5 28 24 28 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033326 17 10712942 CA C 840 PASS - - - - - Del - D 10712942 10712949 1 63 757.095 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 8 6 12 6 36 21 36 21 12 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033524 17 11300609 CT C 300 PASS SHISA6 CCDS45615.1 r.? - - Del intronic D 11300609 11300618 1 12 262.607 - - 8 1 1 SHISA6|CCDS45615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHISA6|CCDS45615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 2 3 2 5 19 20 19 20 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033556 17 11375459 G GT 480 PASS SHISA6 CCDS45615.1 r.? - - Ins intronic I 11375459 11375466 1 24 422.219 - - 6 1 1 SHISA6|CCDS45615.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SHISA6|CCDS45615.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 3 7 4 36 26 36 26 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033617 17 11546220 GA G 297 PASS DNAH9 CCDS11160.1 r.? - - Del intronic D 11546220 11546230 1 12 271.036 - - 9 1 1 DNAH9|CCDS11160.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH9|CCDS11160.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 3 3 5 23 29 23 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033621 17 11563272 CT C 360 PASS DNAH9 CCDS11160.1 r.? - - Del intronic D 11563272 11563278 1 7 325.244 - - 5 1 1 DNAH9|CCDS11160.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH9|CCDS11160.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 0 6 0 7 6 34 6 34 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033682 17 11719568 CA C 540 PASS DNAH9 CCDS11160.1 r.? - - Del intronic D 11719568 11719577 1 30 486.661 - - 8 1 1 DNAH9|CCDS11160.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH9|CCDS11160.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 4 5 6 27 25 27 25 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033772 17 11961256 GT G 298 PASS MAP2K4 CCDS11162.1 r.? - - Del intronic D 11961256 11961266 1 15 325.244 - - 9 1 1 MAP2K4|CCDS11162.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP2K4|CCDS11162.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 2 6 3 16 14 16 14 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760033832 17 12107542 AT A 509 PASS - - - - - Del - D 12107542 12107552 1 30 486.661 - - 9 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 5 4 6 5 26 16 26 16 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760034026 17 12690672 AT A 360 PASS ENSG00000006740 CCDS45616.1 r.? - - Del upstream D 12690672 12690682 1 15 324.641 - - 9 1 1 ENSG00000006740|CCDS45616.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AC005358.1|ENST00000501602|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 2 4 2 23 18 23 18 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760034209 17 12999962 GT G 600 PASS - - - - - Del - D 12999962 12999972 1 32 540.266 - - 9 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 7 3 8 32 38 32 38 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760034252 17 13164146 CA C 360 PASS - - - - - Del - D 13164146 13164156 1 16 305.978 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 3 3 5 30 24 30 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760034282 17 13236661 CT C 720 PASS - - - - - Del - D 13236661 13236670 1 49 650.487 - - 8 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 6 6 9 7 33 34 33 34 9 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760034533 17 13846398 GGA G 360 PASS - - - - - Del - D 13846398 13846403 2 15 325.244 - - 2 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 4 2 4 23 15 23 15 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760034545 17 13864413 CT C 360 PASS - - - - - Del - D 13864413 13864422 1 15 325.244 - - 8 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 4 3 6 33 28 33 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760034653 17 14161544 AT A 420 PASS - - - - - Del - D 14161544 14161553 1 20 379.451 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 4 5 5 22 27 22 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760034942 17 14920082 G GT 389 PASS - - - - - Ins - I 14920082 14920091 1 18 369.216 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 2 5 4 6 20 42 20 42 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760035230 17 15835056 C CT 660 PASS - - - - - Ins - I 15835056 15835066 1 36 589.055 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 8 3 10 5 34 20 34 20 10 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760035248 17 15885064 GA G 300 PASS ZSWIM7 CCDS42266.1 r.? - - Del intronic D 15885064 15885074 1 10 269.23 - - 9 1 1 ZSWIM7|CCDS42266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZSWIM7|CCDS42266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 1 4 1 28 23 28 23 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760035461 17 16255438 GT G 300 PASS CENPV CCDS32575.1 r.? - - Del intronic D 16255438 16255445 1 10 270.434 - - 6 1 1 CENPV|CCDS32575.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CENPV|CCDS32575.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 1 5 1 29 23 29 23 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760035462 17 16255933 CA C 360 PASS CENPV CCDS32575.1 r.? - - Del intronic D 16255933 16255943 1 15 325.244 - - 9 1 1 CENPV|CCDS32575.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CENPV|CCDS32575.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 2 7 3 32 20 32 20 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760035537 17 16407743 C CT 600 PASS - - - - - Ins - I 16407743 16407753 1 35 523.409 - - 9 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 4 6 7 28 29 28 29 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760035540 17 16418322 AT A 300 PASS - - - - - Del - D 16418322 16418332 1 6 271.036 - - 9 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 5 0 5 0 28 5 28 5 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760035558 17 16472956 GA G 300 PASS ZNF287 CCDS11179.2 r.? - - Del upstream D 16472956 16472964 1 10 271.036 - - 7 1 1 ZNF287|CCDS11179.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ZNF287|CCDS11179.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 4 3 5 23 26 23 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760035656 17 16801241 GT G 600 PASS - - - - - Del - D 16801241 16801247 1 35 542.073 - - 5 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 6 4 6 4 19 23 19 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760035900 17 17433807 CA C 360 PASS PEMT CCDS11187.1 r.? - - Del intronic D 17433807 17433817 1 12 325.244 - - 9 1 1 PEMT|CCDS11187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PEMT|CCDS11187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 1 5 2 5 6 23 6 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036006 17 17689434 T TC 420 PASS RAI1 CCDS11188.1 r.? - - Ins intronic I 17689434 17689443 1 18 372.226 - - 8 1 1 RAI1|CCDS11188.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RAI1|CCDS11188.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 5 3 7 30 37 30 38 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036139 17 18087413 G GC 360 PASS ALKBH5 CCDS42272.1 r.125_126insc c.? p.? Ins 5'UTR variant I 18087413 18087420 1 12 320.427 - - 6 1 1 ALKBH5|CCDS42272.1|r.125_126insc|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ALKBH5|CCDS42272.1|r.125_126insc|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 13 5 13 5 0 0 ./. 5 1 6 1 28 16 29 16 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036243 17 18492044 GA G 267 PASS - - - - - Del - D 18492044 18492052 1 21 433.658 - - 7 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 6 3 6 8 13 8 13 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036319 17 18677634 CT C 600 PASS FBXW10 CCDS11199.2 r.? - - Del intronic D 18677634 18677639 1 36 541.471 - - 4 1 1 FBXW10|CCDS11199.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXW10|CCDS11199.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 5 7 6 28 34 28 34 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036473 17 19280643 C CA 300 PASS MAPK7 CCDS11206.1 r.? - - Ins upstream I 19280643 19280650 1 6 268.026 - - 6 1 1 MAPK7|CCDS11206.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 MAPK7|CCDS11206.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 0 6 1 41 30 42 31 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036636 17 19675766 G GA 540 PASS ULK2 CCDS11213.1 r.? - - Ins downstream I 19675766 19675773 1 28 478.834 - - 6 1 1 ULK2|CCDS11213.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ULK2|CCDS11213.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 6 3 6 5 22 20 22 20 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036679 17 19770284 GA G 360 PASS ULK2 CCDS11213.1 r.? - - Del intronic D 19770284 19770292 1 15 322.835 - - 7 1 1 ULK2|CCDS11213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ULK2|CCDS11213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 2 8 5 31 32 31 32 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036800 17 20090039 TG T 600 PASS CYTSB CCDS42280.1 r.? - - Del intronic D 20090039 20090043 1 35 542.073 - - 3 1 1 CYTSB|CCDS42280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYTSB|CCDS42280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 6 4 7 4 27 29 27 29 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036810 17 20107042 GT G 269 PASS CYTSB CCDS42280.1 r.? - - Del intronic D 20107042 20107048 1 12 271.036 - - 5 1 1 CYTSB|CCDS42280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYTSB|CCDS42280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 3 5 19 29 19 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036830 17 20180703 CT C 420 PASS CYTSB CCDS32590.1 r.? - - Del intronic D 20180703 20180713 1 8 379.451 - - 9 1 1 CYTSB|CCDS32590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYTSB|CCDS32590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 0 7 1 8 12 30 12 30 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036966 17 20653058 CA C 277 PASS - - - - - Del - D 20653058 20653068 1 12 271.036 - - 9 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 3 5 3 35 11 35 11 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760036995 17 20717398 CA C 300 PASS - - - - - Del - D 20717398 20717407 1 12 271.036 - - 8 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 3 2 3 2 15 10 15 10 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760037403 17 21246145 CT C 420 PASS - - - - - Del - D 21246145 21246148 1 20 377.043 - - 2 1 1 - - ./. 0 0 0 0 28 24 28 24 0 0 ./. 4 3 5 3 73 85 73 85 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760037997 17 21790052 CA C 600 PASS AC138761.1 ENST00000507397 r.? - - Del intronic D 21790052 21790061 1 36 542.073 - - 8 1 1 AC138761.1|ENST00000507397|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC138761.1|ENST00000507397|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 5 8 6 25 25 25 25 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760038035 17 21887284 AT A 654 PASS - - - - - Del - D 21887284 21887294 1 30 592.065 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 9 2 10 3 29 12 29 12 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760038046 17 21944457 G GC 720 PASS - - - - - Ins - I 21944457 21944462 1 45 643.262 - - 4 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 8 5 9 33 37 33 38 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760038579 17 25669840 TG T 300 PASS - - - - - Del - D 25669840 25669845 1 12 269.23 - - 4 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 2 6 3 25 18 25 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760038677 17 26016856 T TC 480 PASS - - - - - Ins - I 26016856 26016861 1 24 421.617 - - 4 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 5 4 5 30 33 30 33 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760038705 17 26099896 C CA 360 PASS NOS2 CCDS11223.1 r.? - - Ins intronic I 26099896 26099905 1 16 321.631 - - 8 1 1 NOS2|CCDS11223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NOS2|CCDS11223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 3 3 4 5 21 35 21 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760038733 17 26209208 AT A 420 PASS C17orf108 CCDS45631.1 r.? - - Del intronic D 26209208 26209214 1 20 379.451 - - 5 1 1 C17orf108|CCDS45631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C17orf108|CCDS45631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 4 3 7 24 27 24 27 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760038778 17 26354044 AT A 540 PASS ENSG00000235210 ENST00000421163 r.? - - Del upstream D 26354044 26354051 1 30 487.865 - - 6 1 1 ENSG00000235210|ENST00000421163|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000235210|ENST00000421163|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 19 9 19 9 0 0 ./. 4 5 5 6 21 25 21 25 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760038909 17 26822869 G GC 540 PASS SLC13A2 CCDS11231.1 r.? - - Ins intronic I 26822869 26822873 1 30 478.834 - - 3 1 1 SLC13A2|CCDS11231.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC13A2|CCDS11231.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 4 7 4 27 31 27 32 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039008 17 27171680 GA G 600 PASS C17orf63 CCDS45637.1 r.? - - Del upstream D 27171680 27171690 1 36 541.471 - - 9 1 1 C17orf63|CCDS45637.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C17orf63|CCDS45637.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 5 6 5 32 29 32 29 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039011 17 27179069 CA C 300 PASS ERAL1 CCDS11244.1 r.? - - Del upstream D 27179069 27179077 1 12 270.434 - - 7 1 1 ERAL1|CCDS11244.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ERAL1|CCDS11244.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 2 5 5 10 23 10 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039013 17 27184299 A AT 277 PASS ERAL1 CCDS11244.1 r.? - - Ins intronic I 27184299 27184305 1 12 262.607 - - 5 1 1 ERAL1|CCDS11244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ERAL1|CCDS11244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 3 4 16 23 17 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039090 17 27451331 TTCTC T 300 PASS MYO18A CCDS45642.1 r.? - - Del intronic D 27451331 27451340 4 10 268.628 - - 4 1 1 MYO18A|CCDS45642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO18A|CCDS45642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 1 4 1 33 13 33 13 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039148 17 27593928 CT C 360 PASS NUFIP2 CCDS32600.1 r.? - - Del intronic D 27593928 27593938 1 12 325.244 - - 9 1 1 NUFIP2|CCDS32600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUFIP2|CCDS32600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 3 11 3 0 0 ./. 1 5 3 5 10 33 10 33 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039164 17 27627938 G GT 300 PASS - - - - - Ins - I 27627938 27627948 1 6 268.026 - - 9 1 1 - - ./. 0 0 0 0 18 8 18 9 0 0 ./. 5 0 7 0 31 4 31 5 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039217 17 27732798 GA G 480 PASS TAOK1 CCDS32601.1 r.? - - Del intronic D 27732798 27732808 1 24 431.25 - - 9 1 1 TAOK1|CCDS32601.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TAOK1|CCDS32601.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 5 4 6 27 34 27 34 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039260 17 27816526 TA T 420 PASS TAOK1 CCDS32601.1 r.? - - Del intronic D 27816526 27816536 1 18 379.451 - - 9 1 1 TAOK1|CCDS32601.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TAOK1|CCDS32601.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 5 2 6 9 30 9 30 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039370 17 28172204 CTCT C 360 PASS SSH2 CCDS11253.1 r.? - - Del intronic D 28172204 28172215 3 12 324.641 - - 3 1 1 SSH2|CCDS11253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SSH2|CCDS11253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 1 5 3 5 25 25 25 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039394 17 28233776 GA G 300 PASS SSH2 CCDS11253.1 r.? - - Del intronic D 28233776 28233784 1 12 271.036 - - 7 1 1 SSH2|CCDS11253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SSH2|CCDS11253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 6 4 20 35 20 35 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039637 17 29136677 CT C 420 PASS CRLF3 CCDS32607.1 r.? - - Del intronic D 29136677 29136687 1 18 379.451 - - 9 1 1 CRLF3|CCDS32607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRLF3|CCDS32607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 5 3 5 30 28 30 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039736 17 29389293 A AG 300 PASS - - - - - Ins - I 29389293 29389302 1 10 266.22 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 1 4 3 28 21 29 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760039925 17 29938206 AT A 269 PASS - - - - - Del - D 29938206 29938212 1 6 268.628 - - 5 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 0 5 0 6 20 29 20 29 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040010 17 30128704 CT C 540 PASS - - - - - Del - D 30128704 30128710 1 30 487.865 - - 5 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 5 4 5 4 17 19 17 19 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040058 17 30216233 GA G 420 PASS UTP6 CCDS11269.1 r.? - - Del intronic D 30216233 30216243 1 18 377.043 - - 9 1 1 UTP6|CCDS11269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UTP6|CCDS11269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 5 2 6 32 23 32 23 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040325 17 30764826 CT C 360 PASS - - - - - Del - D 30764826 30764835 1 12 325.244 - - 8 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 5 1 6 2 25 29 25 29 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040360 17 30858690 CT C 660 PASS MYO1D CCDS32615.1 r.? - - Del intronic D 30858690 30858695 1 42 596.28 - - 4 1 1 MYO1D|CCDS32615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO1D|CCDS32615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 5 6 6 7 34 29 34 29 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040488 17 31192389 AT A 480 PASS MYO1D CCDS32615.1 r.? - - Del intronic D 31192389 31192399 1 21 433.658 - - 9 1 1 MYO1D|CCDS32615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO1D|CCDS32615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 6 2 7 4 26 22 26 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040523 17 31275282 AT A 300 PASS - - - - - Del - D 31275282 31275292 1 10 271.036 - - 9 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 1 6 1 25 3 25 3 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040564 17 31372660 GC G 360 PASS ACCN1 CCDS11276.1 r.? - - Del intronic D 31372660 31372662 1 15 325.244 - - 1 1 1 ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 4 13 4 0 0 ./. 2 4 3 4 28 29 28 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040603 17 31536381 GA G 420 PASS ACCN1 CCDS11276.1 r.? - - Del intronic D 31536381 31536391 1 14 379.451 - - 9 1 1 ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 6 1 8 3 30 19 30 19 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040660 17 31793499 GA G 459 PASS ACCN1 CCDS42296.1 r.? - - Del intronic D 31793499 31793509 1 24 487.865 - - 9 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 7 2 7 25 27 25 27 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040675 17 31870321 C CA 300 PASS ACCN1 CCDS42296.1 r.? - - Ins intronic I 31870321 31870330 1 12 267.424 - - 8 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 3 4 3 33 20 33 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040707 17 32007032 TG T 300 PASS ACCN1 CCDS42296.1 r.? - - Del intronic D 32007032 32007039 1 10 271.036 - - 6 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 1 4 1 25 26 25 26 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040752 17 32180006 TC T 720 PASS ACCN1 CCDS42296.1 r.? - - Del intronic D 32180006 32180014 1 48 650.487 - - 7 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 5 7 5 9 35 30 35 30 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040935 17 32841484 GT G 480 PASS - - - - - Del - D 32841484 32841494 1 24 433.658 - - 9 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 3 6 3 27 23 27 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760040985 17 33034142 TA T 420 PASS - - - - - Del - D 33034142 33034150 1 18 379.451 - - 7 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 2 6 3 20 28 20 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041067 17 33370181 GA G 418 PASS RFFL CCDS11286.1 r.? - - Del intronic D 33370181 33370189 1 25 433.658 - - 7 1 1 RFFL|CCDS11286.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RFFL|CCDS11286.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 4 5 5 33 23 33 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041072 17 33383941 CT C 389 PASS RFFL CCDS11286.1 r.? - - Del intronic D 33383941 33383951 1 20 374.032 - - 9 1 - RFFL|CCDS11286.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RFFL|CCDS11286.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 3 6 6 27 23 27 23 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041125 17 33535917 TC T 300 PASS - - - - - Del - D 33535917 33535923 1 12 271.036 - - 5 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 2 3 2 28 13 28 13 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041222 17 33826054 T TC 360 PASS SLFN12L CCDS45649.1 r.? - - Ins intronic I 33826054 33826059 1 15 319.223 - - 4 1 1 SLFN12L|CCDS45649.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLFN12L|CCDS45649.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 9 0 0 ./. 2 4 3 4 19 25 20 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041304 17 34023326 CA C 480 PASS AP2B1 CCDS32621.1 r.? - - Del intronic D 34023326 34023334 1 24 433.658 - - 7 1 1 AP2B1|CCDS32621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AP2B1|CCDS32621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 3 6 3 26 19 26 19 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041406 17 34330587 TA T 300 PASS CCL15 CCDS11304.1 r.? - - Del upstream D 34330587 34330597 1 10 271.036 - - 9 1 1 CCL15|CCDS11304.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CCL15|CCDS11304.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 4 10 4 0 0 ./. 1 4 3 7 21 27 21 27 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041443 17 34444371 GT G 300 PASS - - - - - Del - D 34444371 34444381 1 12 271.036 - - 9 1 1 - - ./. 0 0 0 0 27 17 27 17 0 0 ./. 3 2 4 3 47 43 47 43 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041454 17 34463533 CT C 480 PASS - - - - - Del - D 34463533 34463541 1 25 433.658 - - 7 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 4 4 5 5 55 30 55 30 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041456 17 34466045 CA C 300 PASS - - - - - Del - D 34466045 34466051 1 12 271.036 - - 5 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 2 3 3 4 17 36 17 36 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041655 17 35165547 AC A 420 PASS - - - - - Del - D 35165547 35165553 1 18 378.849 - - 5 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 5 2 6 3 31 30 31 30 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041669 17 35231448 GA G 300 PASS - - - - - Del - D 35231448 35231457 1 10 271.036 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 1 8 5 30 25 30 25 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041799 17 35645808 CA C 300 PASS ACACA CCDS11317.1 r.? - - Del intronic D 35645808 35645818 1 10 271.036 - - 9 1 1 ACACA|CCDS11317.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACACA|CCDS11317.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 1 4 2 7 29 26 29 26 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760041948 17 35933344 TA T 389 PASS SYNRG CCDS11321.1 r.? - - Del intronic D 35933344 35933353 1 20 366.808 - - 8 1 1 SYNRG|CCDS11321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYNRG|CCDS11321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 3 4 4 21 22 21 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760042179 17 36493495 G GC 360 PASS GPR179 CCDS42308.1 r.? - - Ins intronic I 36493495 36493501 1 16 318.019 - - 5 1 1 GPR179|CCDS42308.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPR179|CCDS42308.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 3 3 4 20 27 21 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760042182 17 36498765 GC G 389 PASS GPR179 CCDS42308.1 r.? - - Del intronic D 36498765 36498772 1 14 377.645 - - 6 1 1 GPR179|CCDS42308.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR179|CCDS42308.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 1 6 1 9 13 38 13 38 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760042227 17 36636152 GGT G 360 PASS ARHGAP23 CCDS45659.1 r.? - - Del intronic D 36636152 36636160 2 16 310.794 - - 3 1 1 ARHGAP23|CCDS45659.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP23|CCDS45659.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 5 5 5 0 0 ./. 3 3 3 4 21 18 21 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760042233 17 36650828 AT A 300 PASS ARHGAP23 CCDS45659.1 r.? - - Del intronic D 36650828 36650831 1 12 271.036 - - 2 1 1 ARHGAP23|CCDS45659.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP23|CCDS45659.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 5 2 28 30 28 30 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760042569 17 37547295 C CA 300 PASS FBXL20 CCDS32640.1 r.? - - Ins intronic I 37547295 37547305 1 12 268.026 - - 9 1 1 FBXL20|CCDS32640.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBXL20|CCDS32640.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 11 0 0 ./. 2 3 2 5 9 33 11 34 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760042787 17 38085624 AT A 480 PASS ORMDL3 CCDS11355.1 r.? - - Del upstream D 38085624 38085634 1 24 433.658 - - 9 1 1 ORMDL3|CCDS11355.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ORMDL3|CCDS11355.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 5 5 5 23 24 23 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760042854 17 38185264 AC A 360 PASS MED24 CCDS11359.1 r.? - - Del intronic D 38185264 38185271 1 15 324.641 - - 6 1 1 MED24|CCDS11359.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MED24|CCDS11359.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 2 5 2 25 26 25 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760042922 17 38355967 C CA 300 PASS RAPGEFL1 CCDS11363.1 r.? - - Ins downstream I 38355967 38355975 1 12 257.189 - - 7 1 1 RAPGEFL1|CCDS11363.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 RAPGEFL1|CCDS11363.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 4 2 27 24 28 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760043048 17 38718719 TC T 300 PASS CCR7 CCDS11369.1 r.? - - Del intronic D 38718719 38718725 1 10 263.21 - - 5 1 1 CCR7|CCDS11369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCR7|CCDS11369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 1 5 3 34 23 34 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760043341 17 39529784 GT G 480 PASS KRT34 CCDS11390.1 r.? - - Del downstream D 39529784 39529794 1 25 433.658 - - 9 1 1 KRT34|CCDS11390.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KRT33B|CCDS11389.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 4 4 6 27 29 27 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760043342 17 39530327 GA G 360 PASS KRT34 CCDS11390.1 r.? - - Del downstream D 39530327 39530335 1 15 325.244 - - 7 1 1 KRT34|CCDS11390.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KRT33B|CCDS11389.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 5 11 5 0 0 ./. 4 2 5 3 22 21 22 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760043384 17 39638819 CT C 300 PASS KRT35 CCDS11394.2 r.? - - Del upstream D 39638819 39638829 1 12 269.832 - - 9 1 1 KRT35|CCDS11394.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KRT35|CCDS11394.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 3 2 19 34 19 34 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760043411 17 39726475 GA G 360 PASS KRT9 CCDS32654.1 r.709-4delu c.643-4delt p.? Del splice region D 39726475 39726485 1 12 325.244 - - 9 1 1 KRT9|CCDS32654.1|r.709-4delu|c.643-4delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 KRT9|CCDS32654.1|r.709-4delu|c.643-4delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 8 7 8 7 0 0 ./. 1 5 2 5 21 23 21 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760043511 17 39916138 A AT 300 PASS JUP CCDS11407.1 r.? - - Ins intronic I 39916138 39916148 1 6 268.026 - - 9 1 1 JUP|CCDS11407.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 JUP|CCDS11407.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 16 5 16 0 0 ./. 0 5 0 7 3 37 4 37 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760043665 17 40259224 A AT 480 PASS DHX58 CCDS11416.1 r.? - - Ins intronic I 40259224 40259233 1 25 428.842 - - 8 1 1 DHX58|CCDS11416.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DHX58|CCDS11416.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 4 5 4 21 27 21 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760043814 17 40646262 A AG 360 PASS ATP6V0A1 CCDS45683.1 r.? - - Ins intronic I 40646262 40646269 1 15 321.631 - - 6 1 1 ATP6V0A1|CCDS45683.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP6V0A1|CCDS45683.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 2 5 3 31 31 31 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760043891 17 40824341 GC G 300 PASS PLEKHH3 CCDS11434.1 r.1305delG c.838delG p.A280fs*7 Del frameshift D 40824341 40824347 1 12 271.036 - - 5 1 1 PLEKHH3|CCDS11434.1|r.1305delG|c.838delG|p.A280fs*7|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PLEKHH3|CCDS11434.1|r.1305delG|c.838delG|p.A280fs*7|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 2 3 2 19 15 19 15 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760044029 17 41138523 CT C 329 PASS RUNDC1 CCDS11448.1 r.? - - Del intronic D 41138523 41138533 1 15 322.233 - - 9 1 1 RUNDC1|CCDS11448.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RUNDC1|CCDS11448.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 2 7 3 26 23 26 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760044224 17 41456300 TG T 300 PASS ENSG00000188825 ENST00000418911 r.? - - Del intronic D 41456300 41456309 1 12 271.036 - - 8 1 1 ENSG00000188825|ENST00000418911|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000188825|ENST00000418911|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 2 4 4 30 22 30 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760044277 17 41573983 TA T 300 PASS DHX8 CCDS11464.1 r.? - - Del intronic D 41573983 41573991 1 6 271.036 - - 7 1 1 DHX8|CCDS11464.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DHX8|CCDS11464.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 0 5 1 5 25 26 25 26 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760044351 17 41755551 AT A 360 PASS - - - - - Del - D 41755551 41755561 1 12 325.244 - - 9 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 1 6 1 22 15 22 15 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760044352 17 41756210 TG T 480 PASS - - - - - Del - D 41756210 41756217 1 21 433.658 - - 6 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 2 8 4 25 26 25 26 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760044999 17 43194155 TG T 480 PASS PLCD3 ENST00000322765 r.1375-5delc c.1261-5delc p.? Del splice region D 43194155 43194162 1 24 427.637 - - 6 1 1 PLCD3|ENST00000322765|r.1375-5delc|c.1261-5delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 PLCD3|ENST00000322765|r.1375-5delc|c.1261-5delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 5 3 5 25 22 25 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760045219 17 43718687 CA C 480 PASS C17orf69 ENST00000300525 r.? - - Del intronic D 43718687 43718696 1 24 432.454 - - 8 1 1 C17orf69|ENST00000300525|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C17orf69|ENST00000300525|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 5 4 7 27 35 27 35 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760045385 17 43990945 CAGG C 298 PASS MAPT CCDS45715.1 r.? - - Del intronic D 43990945 43990954 3 16 323.437 - - 2 1 1 MAPT|CCDS45715.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAPT|CCDS45715.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 3 4 3 28 30 28 30 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760045618 17 44237832 CT C 300 PASS KIAA1267 CCDS11503.1 r.? - - Del intronic D 44237832 44237841 1 12 271.036 - - 8 1 1 KIAA1267|CCDS11503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1267|CCDS11503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 16 27 16 0 0 ./. 3 2 3 2 33 36 33 36 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760046276 17 45666788 AT A 263 PASS NPEPPS CCDS45721.1 r.? - - Del intronic D 45666788 45666798 1 12 271.036 - - 9 1 1 NPEPPS|CCDS45721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPEPPS|CCDS45721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 2 3 4 4 17 4 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760046592 17 46559571 TA T 300 PASS - - - - - Del - D 46559571 46559579 1 12 271.036 - - 7 1 1 - - ./. 0 0 0 0 17 6 17 6 0 0 ./. 3 2 3 2 32 17 32 17 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760046596 17 46567436 T TA 420 PASS - - - - - Ins - I 46567436 46567442 1 18 375.236 - - 5 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 2 7 2 25 34 25 34 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760046606 17 46587929 T TA 300 PASS - - - - - Ins - I 46587929 46587935 1 6 268.026 - - 5 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 0 7 0 30 4 30 4 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760046670 17 46754437 AT A 296 PASS - - - - - Del - D 46754437 46754447 1 14 378.849 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 1 6 1 6 13 36 13 37 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760046715 17 46880232 C CA 300 PASS TTLL6 CCDS45724.1 r.? - - Ins intronic I 46880232 46880241 1 12 266.822 - - 8 1 1 TTLL6|CCDS45724.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTLL6|CCDS45724.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 3 3 23 28 23 29 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760046747 17 46942612 CT C 420 PASS CALCOCO2 CCDS11538.1 r.? - - Del downstream D 46942612 46942621 1 20 379.451 - - 8 1 1 CALCOCO2|CCDS11538.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 CALCOCO2|CCDS11538.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 3 5 3 23 22 30 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760046970 17 47378664 CT C 540 PASS ZNF652 CCDS32677.1 r.? - - Del intronic D 47378664 47378674 1 30 486.661 - - 9 1 1 ZNF652|CCDS32677.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF652|CCDS32677.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 4 6 5 28 27 28 27 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760047106 17 47775222 AAC A 269 PASS SLC35B1 CCDS11552.1 r.? - - Del downstream D 47775222 47775226 2 10 260.199 - - 1 1 1 SLC35B1|CCDS11552.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SLC35B1|CCDS11552.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 14 8 14 0 0 ./. 1 4 2 3 28 33 28 33 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760047123 17 47833535 CT C 480 PASS FAM117A CCDS11553.1 r.? - - Del intronic D 47833535 47833545 1 25 433.658 - - 9 1 1 FAM117A|CCDS11553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM117A|CCDS11553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 4 4 5 5 25 27 25 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760047385 17 48483056 CCT C 360 PASS - - - - - Del - D 48483056 48483066 2 12 324.641 - - 4 1 1 - - ./. 0 0 0 0 3 8 3 8 0 0 ./. 5 1 6 1 29 20 29 20 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760047424 17 48570191 C CA 329 PASS - - - - - Ins - I 48570191 48570201 1 12 318.019 - - 9 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 5 1 5 1 27 14 27 14 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760047491 17 48767081 AC A 420 PASS ABCC3 CCDS32681.1 r.? - - Del intronic D 48767081 48767088 1 20 379.451 - - 6 1 1 ABCC3|CCDS32681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCC3|CCDS32681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 4 5 7 26 22 26 22 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760047609 17 49012865 CTATT C 420 PASS - - - - - Del - D 49012865 49012872 4 18 375.236 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 2 5 3 19 35 19 35 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760047672 17 49193189 CA C 300 PASS SPAG9 CCDS45740.1 r.? - - Del intronic D 49193189 49193199 1 10 270.434 - - 9 1 - SPAG9|CCDS45740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG9|CCDS45740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 1 6 2 29 23 29 23 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760048068 17 50338888 CT C 300 PASS - - - - - Del - D 50338888 50338896 1 12 271.036 - - 7 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 2 3 3 7 29 28 29 28 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760048083 17 50372035 TA T 360 PASS - - - - - Del - D 50372035 50372045 1 12 325.244 - - 9 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 1 5 1 5 4 16 4 16 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760048259 17 50898179 TG T 480 PASS - - - - - Del - D 50898179 50898187 1 21 430.046 - - 7 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 2 7 3 28 14 28 14 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760048474 17 51664177 CA C 449 PASS - - - - - Del - D 51664177 51664185 1 25 433.658 - - 7 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 4 5 4 22 18 22 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760048601 17 52325837 TA T 360 PASS - - - - - Del - D 52325837 52325845 1 7 325.244 - - 7 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 0 6 0 8 0 27 0 27 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760048719 17 52795544 CT C 420 PASS - - - - - Del - D 52795544 52795553 1 14 379.451 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 1 6 1 22 8 22 8 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760048821 17 53119099 CT C 600 PASS STXBP4 CCDS11584.2 r.? - - Del intronic D 53119099 53119109 1 35 542.073 - - 9 1 1 STXBP4|CCDS11584.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STXBP4|CCDS11584.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 5 15 5 0 0 ./. 6 4 8 5 27 30 27 30 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760048918 17 53456256 TA T 300 PASS - - - - - Del - D 53456256 53456265 1 12 269.832 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 3 3 3 28 20 28 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760049243 17 54681833 AT A 420 PASS - - - - - Del - D 54681833 54681841 1 20 379.451 - - 7 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 4 3 4 4 28 30 28 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760049262 17 54762972 TA T 360 PASS - - - - - Del - D 54762972 54762982 1 7 325.244 - - 9 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 6 0 9 2 32 21 32 21 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760049271 17 54790601 GA G 300 PASS - - - - - Del - D 54790601 54790611 1 10 270.434 - - 9 1 1 - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 4 1 5 1 24 21 24 21 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760049646 17 55632966 AC A 420 PASS MSI2 CCDS11597.1 r.? - - Del intronic D 55632966 55632972 1 18 377.645 - - 5 1 1 MSI2|CCDS11597.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSI2|CCDS11597.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 2 7 4 30 34 30 34 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760049654 17 55663708 GTC G 300 PASS MSI2 CCDS11597.1 r.? - - Del intronic D 55663708 55663728 2 10 268.628 - - 9 1 1 MSI2|CCDS11597.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSI2|CCDS11597.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 4 2 4 24 31 24 31 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760049709 17 55812907 G GA 360 PASS - - - - - Ins - I 55812907 55812915 1 16 321.631 - - 7 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 3 6 4 34 27 35 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760049854 17 56226776 CTCTT C 269 PASS - - - - - Del - D 56226776 56226785 4 12 271.036 - - 2 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 6 3 25 18 25 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050032 17 56711386 GA G 360 PASS TEX14 CCDS32693.1 r.? - - Del intronic D 56711386 56711391 1 15 325.244 - - 4 1 1 TEX14|CCDS32693.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TEX14|CCDS32693.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 4 4 5 31 39 31 39 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050072 17 56767937 G GT 300 PASS TEX14 CCDS32693.1 r.? - - Ins intronic I 56767937 56767944 1 12 266.22 - - 6 1 1 TEX14|CCDS32693.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TEX14|CCDS32693.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 3 6 5 39 34 39 36 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050184 17 57079386 CTG C 420 PASS TRIM37 CCDS32694.1 r.? - - Del intronic D 57079386 57079390 2 18 378.849 - - 1 1 1 TRIM37|CCDS32694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIM37|CCDS32694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 2 5 3 5 11 14 11 14 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050269 17 57279342 CA C 360 PASS PRR11 CCDS11614.1 r.1505delA c.? p.? Del 3'UTR variant D 57279342 57279351 1 16 324.039 - - 8 1 1 PRR11|CCDS11614.1|r.1505delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PRR11|CCDS11614.1|r.1505delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 3 4 6 13 33 13 33 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050279 17 57306331 TA T 300 PASS GDPD1 CCDS11616.1 r.? - - Del intronic D 57306331 57306341 1 6 271.036 - - 9 1 1 GDPD1|CCDS11616.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GDPD1|CCDS11616.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 0 5 0 6 0 23 0 23 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050343 17 57463195 CA C 420 PASS YPEL2 CCDS32695.1 r.? - - Del intronic D 57463195 57463204 1 20 376.441 - - 8 1 1 YPEL2|CCDS32695.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 YPEL2|CCDS32695.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 4 4 7 14 20 14 20 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050578 17 58007880 CT C 480 PASS RPS6KB1 CCDS11621.1 r.? - - Del intronic D 58007880 58007890 1 25 430.046 - - 9 1 1 RPS6KB1|CCDS11621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPS6KB1|CCDS11621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 4 4 5 20 25 20 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050590 17 58025335 AT A 269 PASS RPS6KB1 CCDS11621.1 r.2786delU c.? p.? Del 3'UTR variant D 58025335 58025345 1 10 271.036 - - 9 1 1 RPS6KB1|CCDS11621.1|r.2786delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 RPS6KB1|CCDS11621.1|r.2786delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 1 4 2 19 15 19 15 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050599 17 58040647 TA T 300 PASS RNFT1 CCDS11622.2 r.113-3delu c.57-3delt p.? Del splice region D 58040647 58040654 1 12 271.036 - - 6 1 1 RNFT1|CCDS11622.2|r.113-3delu|c.57-3delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 RNFT1|CCDS11622.2|r.113-3delu|c.57-3delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 3 2 7 28 31 28 31 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050725 17 58536431 CA C 269 PASS APPBP2 CCDS32699.1 r.? - - Del intronic D 58536431 58536440 1 10 271.036 - - 8 1 1 APPBP2|CCDS32699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APPBP2|CCDS32699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 4 1 6 1 18 16 18 16 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050732 17 58573670 GA G 300 PASS APPBP2 CCDS32699.1 r.? - - Del intronic D 58573670 58573679 1 12 271.036 - - 8 1 1 APPBP2|CCDS32699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APPBP2|CCDS32699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 2 4 22 20 22 20 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050774 17 58709228 GT G 300 PASS PPM1D CCDS11625.1 r.? - - Del intronic D 58709228 58709235 1 12 271.036 - - 6 1 1 PPM1D|CCDS11625.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPM1D|CCDS11625.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 3 2 25 12 25 12 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050785 17 58751722 TC T 300 PASS BCAS3 ENST00000360207 r.? - - Del upstream D 58751722 58751725 1 12 270.434 - - 2 1 1 BCAS3|ENST00000360207|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 BCAS3|ENST00000360207|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 5 4 22 29 22 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760050829 17 58848598 AT A 329 PASS BCAS3 CCDS45749.1 r.? - - Del intronic D 58848598 58848608 1 12 325.244 - - 9 1 1 BCAS3|CCDS45749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCAS3|CCDS45749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 1 5 3 6 15 17 15 17 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051073 17 59630471 TA T 300 PASS - - - - - Del - D 59630471 59630478 1 12 269.832 - - 6 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 3 3 4 25 26 25 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051166 17 59887180 GT G 300 PASS BRIP1 CCDS11631.1 r.? - - Del intronic D 59887180 59887190 1 12 271.036 - - 9 1 1 BRIP1|CCDS11631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRIP1|CCDS11631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 3 2 4 2 30 15 30 15 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051199 17 59983049 CT C 329 PASS INTS2 CCDS45750.1 r.? - - Del intronic D 59983049 59983058 1 16 325.244 - - 8 1 1 INTS2|CCDS45750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INTS2|CCDS45750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 3 4 3 25 19 25 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051228 17 60105914 TA T 276 PASS MED13 CCDS42366.1 r.? - - Del intronic D 60105914 60105924 1 10 271.036 - - 9 1 1 MED13|CCDS42366.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MED13|CCDS42366.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 1 4 4 5 15 25 15 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051399 17 60492480 CA C 300 PASS ENSG00000172421 CCDS45751.1 r.? - - Del intronic D 60492480 60492490 1 12 271.036 - - 9 1 - ENSG00000172421|CCDS45751.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000172421|CCDS45751.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 3 2 4 3 34 27 34 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051496 17 60736117 A AT 300 PASS MRC2 CCDS11634.1 r.? - - Ins intronic I 60736117 60736125 1 10 268.026 - - 7 1 1 MRC2|CCDS11634.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MRC2|CCDS11634.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 1 4 1 6 30 35 30 35 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051506 17 60751828 AC A 420 PASS MRC2 CCDS11634.1 r.? - - Del intronic D 60751828 60751834 1 18 379.451 - - 5 1 1 MRC2|CCDS11634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRC2|CCDS11634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 2 5 3 5 18 24 18 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051533 17 60802633 CT C 420 PASS MARCH10 CCDS11635.1 r.? - - Del intronic D 60802633 60802643 1 20 377.645 - - 9 1 1 MARCH10|CCDS11635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MARCH10|CCDS11635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 4 6 4 27 27 27 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051548 17 60839465 CA C 300 PASS MARCH10 CCDS11635.1 r.? - - Del intronic D 60839465 60839467 1 12 271.036 - - 1 1 1 MARCH10|CCDS11635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MARCH10|CCDS11635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 3 5 4 20 26 20 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051645 17 61116492 TA T 300 PASS TANC2 CCDS45754.1 r.? - - Del intronic D 61116492 61116499 1 12 271.036 - - 6 1 1 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 3 2 4 20 16 20 16 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051710 17 61371839 GA G 420 PASS TANC2 CCDS45754.1 r.? - - Del intronic D 61371839 61371849 1 20 379.451 - - 9 1 1 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 3 5 4 26 37 26 37 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051729 17 61440287 GT G 420 PASS TANC2 CCDS45754.1 r.? - - Del intronic D 61440287 61440296 1 18 378.849 - - 8 1 1 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 5 2 8 11 31 11 31 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051763 17 61614970 AT A 540 PASS KCNH6 CCDS11638.1 r.? - - Del intronic D 61614970 61614978 1 30 487.865 - - 7 1 1 KCNH6|CCDS11638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH6|CCDS11638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 5 4 9 5 34 21 34 21 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051797 17 61725492 TA T 329 PASS MAP3K3 CCDS32701.1 r.? - - Del intronic D 61725492 61725498 1 15 325.244 - - 5 1 1 MAP3K3|CCDS32701.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP3K3|CCDS32701.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 10 3 10 0 0 ./. 2 4 3 6 21 32 21 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051825 17 61781803 CG C 449 PASS STRADA CCDS32703.1 r.1156delC c.997delC p.R333fs*42 Del frameshift D 61781803 61781810 1 21 431.25 - - 6 1 1 STRADA|CCDS32703.1|r.1156delC|c.997delC|p.R333fs*42|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 STRADA|CCDS32703.1|r.1156delC|c.997delC|p.R333fs*42|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 6 13 6 13 0 0 ./. 6 2 7 3 25 18 25 18 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051850 17 61821842 CA C 780 PASS CCDC47 CCDS11643.1 r.? - - Del downstream D 61821842 61821851 1 54 695.663 - - 8 1 1 CCDC47|CCDS11643.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 STRADA|CCDS11642.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 8 5 11 25 23 25 23 5 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051863 17 61843791 CT C 300 PASS CCDC47 CCDS11643.1 r.? - - Del intronic D 61843791 61843801 1 12 271.036 - - 9 1 1 CCDC47|CCDS11643.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCDC47|CCDS11643.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 4 4 24 25 24 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051913 17 61933747 GT G 420 PASS - - - - - Del - D 61933747 61933757 1 20 379.451 - - 9 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 3 6 3 24 23 24 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760051944 17 61992327 CA C 334 PASS CSHL1 CCDS11652.1 r.? - - Del upstream D 61992327 61992337 1 20 372.226 - - 9 1 1 CSHL1|CCDS11652.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CSHL1|CCDS11652.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 6 14 6 0 0 ./. 3 4 3 7 14 28 14 28 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052070 17 62323977 TA T 480 PASS TEX2 CCDS11658.1 r.? - - Del intronic D 62323977 62323985 1 24 431.852 - - 7 1 1 TEX2|CCDS11658.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TEX2|CCDS11658.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 5 6 6 32 28 32 28 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052092 17 62364519 CT C 300 PASS - - - - - Del - D 62364519 62364529 1 12 271.036 - - 9 1 1 - - ./. 0 0 0 0 4 10 4 10 0 0 ./. 2 3 3 3 23 21 23 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052124 17 62490694 TC T 534 PASS POLG2 CCDS32706.1 r.? - - Del intronic D 62490694 62490701 1 28 487.865 - - 6 1 1 POLG2|CCDS32706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POLG2|CCDS32706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 3 7 4 36 22 36 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052207 17 62755309 C CA 360 PASS ENSG00000215769 ENST00000400873 r.? - - Ins intronic I 62755309 62755318 1 15 318.019 - - 8 1 1 ENSG00000215769|ENST00000400873|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENSG00000215769|ENST00000400873|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 6 5 30 28 31 29 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052293 17 62969192 TA T 629 PASS - - - - - Del - D 62969192 62969202 1 42 596.28 - - 9 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 5 6 7 6 23 21 23 21 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052328 17 63038854 CA C 480 PASS GNA13 CCDS11661.1 r.? - - Del intronic D 63038854 63038864 1 24 433.658 - - 9 1 1 GNA13|CCDS11661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GNA13|CCDS11661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 5 3 8 10 43 10 43 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052448 17 63406022 TA T 420 PASS - - - - - Del - D 63406022 63406030 1 14 379.451 - - 7 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 6 1 6 22 37 22 37 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052503 17 63512910 A AG 360 PASS - - - - - Ins - I 63512910 63512918 1 15 321.029 - - 7 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 2 8 2 29 25 29 25 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052523 17 63553774 CA C 300 PASS AXIN2 CCDS11662.1 r.? - - Del intronic D 63553774 63553780 1 12 271.036 - - 5 1 1 AXIN2|CCDS11662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AXIN2|CCDS11662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 5 2 38 32 38 32 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052787 17 64097926 GA G 480 PASS CCDC46 CCDS32710.1 r.? - - Del intronic D 64097926 64097936 1 24 433.658 - - 9 1 1 CCDC46|CCDS32710.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC46|CCDS32710.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 5 3 7 3 15 18 15 18 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052865 17 64273339 GA G 569 PASS - - - - - Del - D 64273339 64273349 1 35 525.215 - - 9 1 - - - ./. 0 0 0 0 4 18 4 18 0 0 ./. 6 4 8 9 29 34 29 34 8 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052895 17 64297849 TAA T 480 PASS PRKCA CCDS11664.1 r.? - - Del upstream D 64297849 64297854 2 25 433.658 - - 4 1 1 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 20 7 20 0 0 ./. 4 4 4 4 33 32 33 32 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760052998 17 64518940 AAG A 300 PASS PRKCA CCDS11664.1 r.? - - Del intronic D 64518940 64518944 2 6 263.21 - - 1 1 1 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 5 0 5 1 26 24 26 24 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053086 17 64762114 GA G 600 PASS PRKCA CCDS11664.1 r.? - - Del intronic D 64762114 64762121 1 35 542.073 - - 6 1 1 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 4 6 7 6 36 28 36 28 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053090 17 64776793 C CA 420 PASS PRKCA CCDS11664.1 r.? - - Ins intronic I 64776793 64776802 1 20 374.032 - - 8 1 1 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 22 10 22 0 0 ./. 4 3 4 4 21 37 22 37 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053174 17 65043330 GA G 600 PASS CACNG1 CCDS11668.1 r.? - - Del intronic D 65043330 65043339 1 32 542.073 - - 8 1 1 CACNG1|CCDS11668.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNG1|CCDS11668.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 6 18 6 0 0 ./. 3 7 4 7 26 30 26 30 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053331 17 65357696 TA T 480 PASS PSMD12 CCDS11669.1 r.? - - Del intronic D 65357696 65357706 1 21 433.658 - - 9 1 1 PSMD12|CCDS11669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSMD12|CCDS11669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 15 4 15 0 0 ./. 2 6 2 7 8 37 8 37 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053388 17 65460787 CA C 840 PASS PITPNC1 ENST00000423236 r.? - - Del intronic D 65460787 65460795 1 60 758.902 - - 7 1 1 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 9 9 13 38 39 38 39 9 13 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053440 17 65558655 CT C 720 PASS PITPNC1 ENST00000423236 r.? - - Del intronic D 65558655 65558665 1 45 648.079 - - 9 1 1 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 8 7 10 28 31 28 31 7 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053521 17 65711866 GA G 600 PASS NOL11 CCDS11671.1 r.? - - Del upstream D 65711866 65711876 1 35 537.256 - - 9 1 1 NOL11|CCDS11671.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 NOL11|CCDS11671.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 6 5 8 23 27 23 27 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053539 17 65744658 CA C 600 PASS NOL11 CCDS11671.1 r.? - - Del downstream D 65744658 65744668 1 35 541.471 - - 9 1 1 NOL11|CCDS11671.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NOL11|CCDS11671.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 6 7 8 34 23 34 23 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053567 17 65774732 CA C 356 PASS - - - - - Del - D 65774732 65774742 1 24 432.454 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 3 6 3 26 18 26 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053610 17 65856599 TA T 480 PASS BPTF CCDS11673.1 r.? - - Del intronic D 65856599 65856607 1 16 433.658 - - 7 1 1 BPTF|CCDS11673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BPTF|CCDS11673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 7 1 9 1 21 4 21 4 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053739 17 66137214 GT G 600 PASS - - - - - Del - D 66137214 66137220 1 32 541.471 - - 5 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 7 3 7 3 32 32 32 32 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053748 17 66168297 AAAAG A 420 PASS - - - - - Del - D 66168297 66168306 4 20 376.44 - - 2 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 4 5 7 24 43 24 43 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053801 17 66279266 TA T 358 PASS ARSG CCDS11676.1 r.? - - Del intronic D 66279266 66279275 1 14 378.849 - - 8 1 1 ARSG|CCDS11676.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ARSG|CCDS11676.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 1 10 3 21 21 21 21 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053854 17 66430609 ACT A 300 PASS WIPI1 CCDS11677.1 r.? - - Del intronic D 66430609 66430616 2 12 271.036 - - 3 1 1 WIPI1|CCDS11677.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WIPI1|CCDS11677.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 2 3 3 38 35 38 35 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053899 17 66554173 GT G 840 PASS FAM20A CCDS11679.1 r.? - - Del intronic D 66554173 66554182 1 63 757.697 - - 8 1 1 FAM20A|CCDS11679.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM20A|CCDS11679.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 8 6 12 10 39 34 39 34 12 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760053944 17 66636909 AT A 300 PASS - - - - - Del - D 66636909 66636919 1 10 271.036 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 4 1 4 8 26 8 26 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760054078 17 67052066 GA G 360 PASS ABCA9 CCDS11681.1 r.? - - Del intronic D 67052066 67052074 1 7 325.244 - - 7 1 1 ABCA9|CCDS11681.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ABCA9|CCDS11681.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 0 6 0 6 4 32 4 32 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760054122 17 67221740 AT A 360 PASS ABCA10 CCDS11684.1 r.? - - Del intronic D 67221740 67221746 1 16 322.835 - - 5 1 1 ABCA10|CCDS11684.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ABCA10|CCDS11684.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 3 5 4 26 27 26 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760054154 17 67342570 AT A 540 PASS - - - - - Del - D 67342570 67342580 1 30 487.263 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 4 5 4 26 11 26 11 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760054253 17 67589491 AT A 300 PASS - - - - - Del - D 67589491 67589501 1 12 271.036 - - 9 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 2 5 2 24 24 24 24 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760054286 17 67703227 CT C 269 PASS - - - - - Del - D 67703227 67703237 1 12 268.628 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 3 4 28 25 28 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760054535 17 68412024 CA C 540 PASS - - - - - Del - D 68412024 68412031 1 30 487.865 - - 6 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 5 4 5 5 28 19 28 19 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760054622 17 68668223 CG C 300 PASS - - - - - Del - D 68668223 68668225 1 12 263.812 - - 1 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 3 2 4 4 16 18 16 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760054751 17 68983975 GGA G 300 PASS - - - - - Del - D 68983975 68983978 2 6 271.036 - - 1 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 0 7 0 28 4 28 4 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760054852 17 69242234 CA C 300 PASS - - - - - Del - D 69242234 69242243 1 12 269.832 - - 8 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 3 2 4 6 26 32 26 32 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760055059 17 69939269 T TG 600 PASS - - - - - Ins - I 69939269 69939274 1 35 534.848 - - 4 1 1 - - ./. 0 0 0 0 8 19 8 19 0 0 ./. 6 4 7 5 32 30 32 30 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760055126 17 70226435 GT G 300 PASS - - - - - Del - D 70226435 70226445 1 12 271.036 - - 9 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 3 2 4 2 22 12 22 12 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760055243 17 70542569 CT C 540 PASS - - - - - Del - D 70542569 70542579 1 24 487.865 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 7 3 7 26 25 26 25 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760055253 17 70557369 T TG 420 PASS - - - - - Ins - I 70557369 70557376 1 18 375.236 - - 6 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 5 3 5 24 26 24 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760055678 17 71423225 TA T 360 PASS SDK2 CCDS45769.1 r.? - - Del intronic D 71423225 71423235 1 12 324.039 - - 9 1 1 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 1 5 2 34 25 34 25 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760055704 17 71468717 AT A 480 PASS SDK2 CCDS45769.1 r.? - - Del intronic D 71468717 71468727 1 24 433.658 - - 9 1 1 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 11 3 11 0 0 ./. 5 3 6 3 31 25 31 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760055783 17 71790828 TG T 300 PASS C17orf54 ENST00000444747 r.? - - Del intronic D 71790828 71790837 1 12 270.434 - - 8 1 1 C17orf54|ENST00000444747|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C17orf54|ENST00000444747|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 2 4 3 19 23 19 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760056400 17 73193553 C CA 660 PASS - - - - - Ins - I 73193553 73193562 1 42 589.055 - - 8 1 1 - - ./. 0 0 0 0 8 14 10 14 0 0 ./. 5 6 6 7 16 40 17 43 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760056408 17 73200621 AT A 389 PASS NUP85 CCDS32730.1 r.? - - Del upstream D 73200621 73200631 1 18 351.756 - - 9 1 1 NUP85|CCDS32730.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 NUP85|CCDS32730.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 8 7 8 0 0 ./. 2 5 3 8 22 28 22 28 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760056423 17 73218117 C CGT 300 PASS NUP85 CCDS32730.1 r.? - - Ins intronic I 73218117 73218132 2 12 265.016 - - 7 1 1 NUP85|CCDS32730.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUP85|CCDS32730.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 14 0 0 ./. 3 2 6 3 25 31 25 32 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760056622 17 73530429 TG T 420 PASS LLGL2 CCDS32733.1 r.? - - Del intronic D 73530429 73530436 1 18 375.838 - - 6 1 1 LLGL2|CCDS32733.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LLGL2|CCDS32733.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 5 4 6 42 22 42 22 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760056662 17 73631705 T TC 420 PASS RECQL5 CCDS42380.1 r.? - - Ins intronic I 73631705 73631713 1 20 369.818 - - 7 1 1 RECQL5|CCDS42380.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RECQL5|CCDS42380.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 3 5 4 33 29 33 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760056716 17 73782957 CA C 300 PASS UNK CCDS45778.1 r.? - - Del intronic D 73782957 73782967 1 12 270.434 - - 9 1 - UNK|CCDS45778.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNK|CCDS45778.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 17 3 17 0 0 ./. 2 3 2 4 22 30 22 30 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760056806 17 73985667 AT A 329 PASS C17orf106 CCDS45780.1 r.? - - Del intronic D 73985667 73985675 1 16 325.244 - - 7 1 1 C17orf106|CCDS45780.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C17orf106|CCDS45780.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 3 5 4 21 20 21 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760057227 17 74942379 AC A 360 PASS MGAT5B CCDS11751.1 r.? - - Del intronic D 74942379 74942385 1 15 325.244 - - 5 1 1 MGAT5B|CCDS11751.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MGAT5B|CCDS11751.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 4 2 4 2 21 14 21 14 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760057363 17 75175765 CT C 300 PASS SEC14L1 CCDS42385.1 r.? - - Del intronic D 75175765 75175775 1 12 269.23 - - 9 1 1 SEC14L1|CCDS42385.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEC14L1|CCDS42385.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 4 3 22 28 22 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760057516 17 75512042 TA T 300 PASS - - - - - Del - D 75512042 75512052 1 12 271.036 - - 9 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 3 2 4 5 28 21 28 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760057654 17 75927374 GCA G 360 PASS - - - - - Del - D 75927374 75927384 2 15 325.244 - - 4 1 1 - - ./. 0 0 0 0 7 3 7 3 0 0 ./. 2 4 4 7 25 30 25 30 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760057677 17 75992400 GA G 480 PASS - - - - - Del - D 75992400 75992409 1 24 432.454 - - 8 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 5 3 8 3 32 21 32 21 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760057706 17 76113106 AC A 420 PASS TMC6 CCDS32748.1 r.? - - Del intronic D 76113106 76113113 1 14 378.247 - - 6 1 1 TMC6|CCDS32748.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMC6|CCDS32748.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 1 6 2 6 29 29 29 29 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760057720 17 76146264 AT A 300 PASS C17orf99 ENST00000340363 r.? - - Del intronic D 76146264 76146271 1 10 269.832 - - 6 1 1 C17orf99|ENST00000340363|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C17orf99|ENST00000340363|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 4 1 7 5 22 22 22 22 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760057773 17 76214850 AT A 269 PASS BIRC5 CCDS32752.1 r.? - - Del intronic D 76214850 76214859 1 10 265.016 - - 8 1 1 BIRC5|CCDS32752.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BIRC5|CCDS32752.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 4 2 6 28 20 28 20 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760057811 17 76292076 CT C 269 PASS - - - - - Del - D 76292076 76292085 1 10 270.434 - - 8 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 1 7 2 28 22 28 22 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760057978 17 76688233 TC T 540 PASS CYTH1 CCDS42392.2 r.? - - Del intronic D 76688233 76688239 1 30 486.059 - - 5 1 1 CYTH1|CCDS42392.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYTH1|CCDS42392.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 4 10 4 0 0 ./. 5 4 7 5 32 39 32 39 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760057981 17 76698913 AT A 300 PASS CYTH1 CCDS42392.2 r.? - - Del intronic D 76698913 76698923 1 12 271.036 - - 9 1 1 CYTH1|CCDS42392.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYTH1|CCDS42392.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 2 3 3 4 25 25 25 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760058180 17 77253663 CT C 360 PASS ENSG00000167281 CCDS45805.1 r.? - - Del intronic D 77253663 77253673 1 15 324.039 - - 9 1 1 ENSG00000167281|CCDS45805.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000167281|CCDS45805.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 2 6 3 33 31 33 31 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760058393 17 77951347 GGAGA G 600 PASS TBC1D16 CCDS11766.1 r.? - - Del intronic D 77951347 77951357 4 27 540.266 - - 4 1 1 TBC1D16|CCDS11766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D16|CCDS11766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 2 8 5 10 24 37 24 37 5 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760058514 17 78202222 GC G 360 PASS SLC26A11 CCDS11771.2 r.? - - Del intronic D 78202222 78202227 1 15 325.244 - - 4 1 1 SLC26A11|CCDS11771.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC26A11|CCDS11771.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 4 2 5 2 26 8 26 8 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760058553 17 78284062 G GT 360 PASS RNF213 CCDS11772.1 r.? - - Ins intronic I 78284062 78284070 1 15 321.631 - - 7 1 1 RNF213|CCDS11772.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF213|CCDS11772.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 8 18 8 0 0 ./. 4 2 5 3 28 29 28 29 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760058760 17 78761037 TA T 360 PASS RPTOR CCDS11773.1 r.? - - Del intronic D 78761037 78761045 1 15 325.244 - - 7 1 1 RPTOR|CCDS11773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPTOR|CCDS11773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 4 4 5 19 25 19 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760058761 17 78770849 G GT 300 PASS RPTOR CCDS11773.1 r.? - - Ins intronic I 78770849 78770857 1 12 268.026 - - 7 1 1 RPTOR|CCDS11773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RPTOR|CCDS11773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 3 6 24 22 25 22 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760058836 17 78990587 C CA 300 PASS - - - - - Ins - I 78990587 78990596 1 10 268.026 - - 8 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 1 4 3 6 24 29 24 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760058967 17 79300523 G GT 480 PASS TMEM105 CCDS11781.1 r.? - - Ins intronic I 79300523 79300531 1 21 428.842 - - 7 1 1 TMEM105|CCDS11781.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TMEM105|CCDS11781.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 6 2 6 3 31 29 31 30 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760059045 17 79496847 A AT 360 PASS FSCN2 CCDS45810.1 r.? - - Ins intronic I 79496847 79496854 1 16 321.029 - - 6 1 1 FSCN2|CCDS45810.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FSCN2|CCDS45810.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 3 4 4 27 22 27 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760059088 17 79591634 AAAC A 298 PASS NPLOC4 CCDS45812.1 r.? - - Del intronic D 79591634 79591640 3 15 321.631 - - 1 1 1 NPLOC4|CCDS45812.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPLOC4|CCDS45812.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 4 3 5 26 35 26 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760059146 17 79763317 AG A 420 PASS GCGR ENST00000400723 r.? - - Del intronic D 79763317 79763323 1 18 379.451 - - 5 1 1 GCGR|ENST00000400723|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GCGR|ENST00000400723|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 5 4 6 22 28 22 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760059174 17 79878421 AC A 480 PASS MAFG CCDS11793.1 r.2762delG c.? p.? Del 3'UTR variant D 79878421 79878427 1 21 433.658 - - 5 1 1 MAFG|CCDS11793.1|r.2762delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 MAFG|CCDS11793.1|r.2762delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 6 3 7 32 30 32 30 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760059207 17 79951074 C CT 420 PASS ASPSCR1 CCDS11796.1 r.? - - Ins intronic I 79951074 79951083 1 20 374.032 - - 8 1 - ASPSCR1|CCDS11796.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASPSCR1|CCDS11796.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 4 3 5 3 29 29 29 29 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760059221 17 80012212 TTC T 360 PASS GPS1 CCDS11800.1 r.? - - Del intronic D 80012212 80012220 2 16 322.835 - - 3 1 1 GPS1|CCDS11800.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPS1|ENST00000392357|r.1267_1268delUC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 7 3 7 3 0 0 ./. 3 3 5 4 21 21 21 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760059225 17 80028547 GA G 420 PASS DUS1L CCDS32775.1 r.? - - Del upstream D 80028547 80028556 1 14 379.451 - - 8 1 1 DUS1L|CCDS32775.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000236696|ENST00000426190|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 1 6 1 7 16 24 16 24 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760059308 17 80196008 CG C 480 PASS SLC16A3 CCDS11804.1 r.? - - Del intronic D 80196008 80196018 1 25 428.842 - - 9 1 1 SLC16A3|CCDS11804.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC16A3|CCDS11804.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 6 5 6 0 0 ./. 4 4 5 4 23 23 23 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760059386 17 80444216 CG C 480 PASS NARF CCDS42404.1 r.? - - Del intronic D 80444216 80444225 1 25 432.454 - - 8 1 1 NARF|CCDS42404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NARF|CCDS42404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 4 5 4 25 18 25 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760059397 17 80472991 GA G 300 PASS FOXK2 CCDS11813.1 r.? - - Del upstream D 80472991 80472995 1 10 271.036 - - 3 1 1 FOXK2|CCDS11813.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 FOXK2|CCDS11813.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 5 15 5 15 0 0 ./. 4 1 5 2 19 11 19 11 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760059478 17 80627529 TA T 380 PASS RAB40B CCDS11816.1 r.? - - Del intronic D 80627529 80627539 1 20 379.451 - - 9 1 1 RAB40B|CCDS11816.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB40B|CCDS11816.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 4 5 6 21 15 21 15 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760060017 18 263089 CT C 300 PASS THOC1 CCDS45820.1 r.? - - Del intronic D 263089 263099 1 6 271.511 - - 9 1 1 THOC1|CCDS45820.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THOC1|CCDS45820.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 0 7 2 22 22 22 22 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760060084 18 394938 CA C 540 PASS COLEC12 CCDS32782.1 r.? - - Del intronic D 394938 394947 1 28 488.72 - - 8 1 - COLEC12|CCDS32782.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COLEC12|CCDS32782.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 3 8 6 38 28 38 28 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760060245 18 760468 TA T 480 PASS YES1 CCDS11824.1 r.? - - Del intronic D 760468 760477 1 21 434.418 - - 8 1 1 YES1|CCDS11824.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 YES1|CCDS11824.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 6 2 8 20 22 20 22 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760060451 18 1378664 CA C 300 PASS - - - - - Del - D 1378664 1378670 1 12 269.103 - - 5 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 2 4 2 33 7 33 7 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760060466 18 1422012 TA T 540 PASS - - - - - Del - D 1422012 1422019 1 24 488.72 - - 6 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 7 2 8 4 19 29 19 29 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760060579 18 1706764 AT A 360 PASS - - - - - Del - D 1706764 1706772 1 15 324.007 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 4 4 4 21 26 21 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760060879 18 2511264 CA C 360 PASS - - - - - Del - D 2511264 2511273 1 15 325.813 - - 8 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 2 4 5 5 25 18 25 18 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760060898 18 2547714 CT C 420 PASS METTL4 CCDS11826.1 r.? - - Del intronic D 2547714 2547723 1 20 379.514 - - 8 1 1 METTL4|CCDS11826.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 METTL4|CCDS11826.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 3 4 6 17 27 17 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760061084 18 2997295 G GT 447 PASS LPIN2 CCDS11829.1 r.? - - Ins intronic I 2997295 2997305 1 30 482.7 - - 9 1 1 LPIN2|CCDS11829.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LPIN2|CCDS11829.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 8 6 8 0 0 ./. 4 5 6 6 34 33 34 33 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760061375 18 3604326 CCTT C 329 PASS DLGAP1 CCDS11836.1 r.? - - Del intronic D 3604326 3604333 3 16 325.813 - - 2 1 1 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000238060|ENST00000445581|r.1330_1332delCUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 3 3 5 24 25 24 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760061448 18 3784467 TA T 360 PASS DLGAP1 CCDS11836.1 r.? - - Del intronic D 3784467 3784469 1 12 322.803 - - 1 1 1 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 5 1 5 2 22 21 22 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760061519 18 4005856 AT A 540 PASS - - - - - Del - D 4005856 4005866 1 28 488.72 - - 9 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 3 6 3 22 15 22 15 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760061571 18 4211992 CTG C 420 PASS - - - - - Del - D 4211992 4211998 2 8 380.116 - - 2 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 7 0 8 3 28 26 28 26 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760061807 18 5090817 C CT 474 PASS - - - - - Ins - I 5090817 5090821 1 25 428.397 - - 3 1 1 - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 4 4 5 7 24 29 24 29 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760061819 18 5128965 CA C 600 PASS - - - - - Del - D 5128965 5128971 1 32 543.022 - - 5 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 7 3 10 3 26 13 26 13 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062056 18 5929824 CT C 269 PASS - - - - - Del - D 5929824 5929832 1 10 271.511 - - 7 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 1 4 1 7 17 39 17 39 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062117 18 6264787 GA G 360 PASS L3MBTL4 CCDS11839.2 r.? - - Del intronic D 6264787 6264797 1 15 325.211 - - 9 1 1 L3MBTL4|CCDS11839.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 L3MBTL4|CCDS11839.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 4 2 4 2 19 23 19 23 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062316 18 6811658 AT A 300 PASS ARHGAP28 ENST00000262227 r.? - - Del intronic D 6811658 6811668 1 12 271.511 - - 9 1 1 ARHGAP28|ENST00000262227|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ARHGAP28|ENST00000262227|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 2 3 4 3 12 18 12 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062406 18 7053557 GA G 300 PASS LAMA1 CCDS32787.1 r.? - - Del intronic D 7053557 7053567 1 12 271.511 - - 9 1 1 LAMA1|CCDS32787.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LAMA1|CCDS32787.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 3 3 4 26 24 26 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062467 18 7179856 TA T 300 PASS - - - - - Del - D 7179856 7179866 1 12 270.909 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 2 4 18 25 18 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062635 18 7596609 G GA 420 PASS PTPRM CCDS11840.1 r.? - - Ins intronic I 7596609 7596616 1 20 375.299 - - 6 1 1 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 3 4 4 18 21 18 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062645 18 7615249 GA G 300 PASS PTPRM CCDS11840.1 r.? - - Del intronic D 7615249 7615258 1 12 271.511 - - 8 1 1 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 3 2 5 23 16 23 16 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062683 18 7791237 CT C 300 PASS PTPRM CCDS11840.1 r.? - - Del intronic D 7791237 7791247 1 12 271.511 - - 9 1 1 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 3 4 19 14 19 14 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062739 18 8008016 AT A 420 PASS PTPRM CCDS11840.1 r.? - - Del intronic D 8008016 8008023 1 20 379.514 - - 6 1 1 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 4 3 4 18 26 18 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062789 18 8180945 T TG 300 PASS PTPRM CCDS11840.1 r.? - - Ins intronic I 8180945 8180953 1 12 268.501 - - 7 1 1 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 2 3 3 6 29 30 29 30 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062825 18 8295762 CA C 269 PASS PTPRM CCDS11840.1 r.? - - Del intronic D 8295762 8295772 1 12 270.307 - - 9 1 1 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 2 3 3 4 18 28 18 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760062969 18 8739622 TCATA T 509 PASS KIAA0802 CCDS11841.1 r.? - - Del intronic D 8739622 8739629 4 24 488.72 - - 1 1 1 KIAA0802|CCDS11841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0802|CCDS11841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 7 2 7 24 25 24 25 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063028 18 8898289 CA C 420 PASS - - - - - Del - D 8898289 8898298 1 18 378.912 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 5 3 5 33 27 33 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063046 18 8962675 CT C 420 PASS - - - - - Del - D 8962675 8962683 1 20 380.116 - - 7 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 4 5 6 23 31 23 31 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063147 18 9271359 TA T 300 PASS ANKRD12 CCDS42411.1 r.? - - Del intronic D 9271359 9271365 1 6 261.276 - - 5 1 1 ANKRD12|CCDS42411.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD12|CCDS42411.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 0 5 0 7 9 31 9 31 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063169 18 9322260 CA C 480 PASS - - - - - Del - D 9322260 9322269 1 24 432.612 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 5 3 6 26 24 26 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063234 18 9495627 GA G 300 PASS RALBP1 CCDS11845.1 r.? - - Del intronic D 9495627 9495633 1 12 270.909 - - 5 1 1 RALBP1|CCDS11845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RALBP1|CCDS11845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 2 4 3 32 32 32 32 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063235 18 9496855 CT C 360 PASS RALBP1 CCDS11845.1 r.? - - Del intronic D 9496855 9496864 1 15 325.813 - - 8 1 1 RALBP1|CCDS11845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RALBP1|CCDS11845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 2 6 6 30 29 30 29 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063244 18 9525920 C CT 360 PASS RALBP1 CCDS11845.1 r.? - - Ins intronic I 9525920 9525930 1 15 322.201 - - 9 1 1 RALBP1|CCDS11845.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RALBP1|CCDS11845.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 2 7 3 25 19 26 19 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063331 18 9726917 T TA 360 PASS RAB31 CCDS45826.1 r.? - - Ins intronic I 9726917 9726927 1 16 322.201 - - 9 1 1 RAB31|CCDS45826.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAB31|CCDS45826.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 16 0 0 ./. 3 3 6 6 25 30 26 30 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063398 18 9914391 C CG 300 PASS VAPA CCDS11848.2 r.? - - Ins intronic I 9914391 9914399 1 10 266.695 - - 7 1 1 VAPA|CCDS11848.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VAPA|CCDS11848.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 1 4 4 4 20 35 21 35 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063438 18 10106594 A AT 300 PASS - - - - - Ins - I 10106594 10106603 1 12 268.501 - - 8 1 1 - - ./. 0 0 0 0 21 20 21 20 0 0 ./. 2 3 3 6 14 27 14 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063558 18 10587109 AT A 300 PASS - - - - - Del - D 10587109 10587119 1 10 271.511 - - 9 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 1 5 1 33 12 33 12 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063756 18 11156881 GA G 420 PASS - - - - - Del - D 11156881 11156890 1 20 380.116 - - 8 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 4 3 5 19 29 19 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063831 18 11476475 CT C 337 PASS - - - - - Del - D 11476475 11476480 1 16 325.813 - - 4 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 3 4 3 23 29 23 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063905 18 11646626 C CA 305 PASS AMAC1L1 ENST00000424015 r.? - - Ins downstream I 11646626 11646632 1 16 322.201 - - 5 1 1 AMAC1L1|ENST00000424015|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 AMAC1L1|ENST00000424015|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 13 24 13 24 0 0 ./. 3 3 4 4 38 35 38 36 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760063912 18 11668904 GA G 660 PASS - - - - - Del - D 11668904 11668914 1 36 597.325 - - 9 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 8 3 10 3 24 28 24 28 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760064353 18 12687331 GA G 300 PASS CEP76 CCDS11861.1 r.? - - Del intronic D 12687331 12687341 1 10 271.511 - - 9 1 1 CEP76|CCDS11861.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CEP76|CCDS11861.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 18 7 18 0 0 ./. 1 4 1 6 14 26 14 26 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760064446 18 12877229 GA G 300 PASS PTPN2 CCDS11865.1 r.? - - Del intronic D 12877229 12877239 1 12 271.511 - - 9 1 1 PTPN2|CCDS11865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN2|CCDS11865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 4 4 20 34 20 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760064477 18 12954776 G GA 348 PASS SEH1L CCDS45832.1 r.? - - Ins intronic I 12954776 12954785 1 20 375.901 - - 8 1 1 SEH1L|CCDS45832.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SEH1L|CCDS45832.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 23 12 23 0 0 ./. 4 3 5 5 25 21 26 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760064515 18 13176467 AT A 480 PASS - - - - - Del - D 13176467 13176474 1 24 434.418 - - 6 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 3 7 8 26 31 26 31 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760064563 18 13340875 G GT 360 PASS C18orf1 CCDS32793.1 r.? - - Ins intronic I 13340875 13340881 1 15 319.793 - - 5 1 1 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 2 5 2 30 31 31 31 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760064599 18 13493324 A AT 360 PASS C18orf1 CCDS32793.1 r.? - - Ins intronic I 13493324 13493332 1 15 322.201 - - 7 1 1 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 4 2 5 22 32 22 32 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760064609 18 13524443 GA G 360 PASS C18orf1 CCDS32793.1 r.? - - Del intronic D 13524443 13524452 1 15 325.813 - - 8 1 1 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 4 4 4 32 31 32 31 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760064681 18 13699391 G GC 420 PASS C18orf19 CCDS11866.1 r.? - - Ins intronic I 13699391 13699399 1 14 375.901 - - 7 1 1 C18orf19|CCDS11866.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C18orf19|CCDS11866.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 6 1 6 3 17 26 18 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760065097 18 14797207 AC A 300 PASS ENSG00000180777 ENST00000320584 r.? - - Del intronic D 14797207 14797215 1 12 271.511 - - 7 1 1 ENSG00000180777|ENST00000320584|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000180777|ENST00000320584|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 2 3 2 18 23 18 23 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760065128 18 14911184 AT A 480 PASS - - - - - Del - D 14911184 14911194 1 25 434.418 - - 9 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 4 4 5 5 22 22 22 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760065136 18 14945411 AAGG A 329 PASS - - - - - Del - D 14945411 14945420 3 15 325.813 - - 2 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 2 4 2 29 16 29 16 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760065138 18 14956106 GT G 269 PASS - - - - - Del - D 14956106 14956114 1 6 271.511 - - 7 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 0 6 1 22 12 22 12 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760065699 18 19196813 AT A 295 PASS SNRPD1 CCDS32801.1 r.? - - Del intronic D 19196813 19196822 1 10 271.511 - - 8 1 1 SNRPD1|CCDS32801.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNRPD1|CCDS32801.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 1 4 5 4 33 28 33 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760065739 18 19306352 GA G 420 PASS - - - - - Del - D 19306352 19306362 1 20 380.116 - - 9 1 1 - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 4 3 5 3 27 27 27 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760065744 18 19330101 AT A 300 PASS MIB1 CCDS11871.1 r.? - - Del intronic D 19330101 19330109 1 12 271.511 - - 7 1 1 MIB1|CCDS11871.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIB1|CCDS11871.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 5 5 18 18 18 18 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760065886 18 19717759 AT A 420 PASS - - - - - Del - D 19717759 19717768 1 20 379.514 - - 8 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 4 3 4 16 12 16 12 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760065992 18 20087140 CGA C 269 PASS - - - - - Del - D 20087140 20087152 2 6 270.909 - - 5 1 1 - - ./. 0 0 0 0 6 4 6 4 0 0 ./. 0 5 2 7 15 19 15 19 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760066713 18 22169552 T TG 300 PASS - - - - - Ins - I 22169552 22169557 1 12 268.501 - - 4 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 3 2 4 18 25 18 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760066892 18 22929136 GTTC G 627 PASS ZNF521 CCDS32806.1 r.? - - Del intronic D 22929136 22929145 3 49 651.627 - - 2 1 1 ZNF521|CCDS32806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF521|CCDS32806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 6 8 7 31 22 31 22 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760066894 18 22931247 AC A 360 PASS ZNF521 CCDS32806.1 r.? - - Del intronic D 22931247 22931252 1 16 323.405 - - 4 1 1 ZNF521|CCDS32806.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF521|CCDS32806.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 3 4 25 23 25 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760066934 18 23061634 CA C 420 PASS - - - - - Del - D 23061634 23061644 1 18 379.514 - - 9 1 - - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 5 2 6 2 28 19 28 19 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067026 18 23505858 GT G 300 PASS - - - - - Del - D 23505858 23505865 1 10 269.705 - - 6 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 4 2 5 18 24 18 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067196 18 24102118 CA C 420 PASS KCTD1 CCDS45844.1 r.? - - Del intronic D 24102118 24102123 1 20 379.514 - - 4 1 1 KCTD1|CCDS45844.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCTD1|CCDS45844.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 4 3 6 31 34 31 34 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067222 18 24157689 GT G 300 PASS KCTD1 CCDS11888.1 r.? - - Del intronic D 24157689 24157699 1 10 271.511 - - 9 1 1 KCTD1|CCDS11888.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KCTD1|CCDS11888.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 1 7 3 28 17 28 17 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067265 18 24268796 AT A 360 PASS - - - - - Del - D 24268796 24268806 1 15 321.599 - - 9 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 4 2 5 4 28 15 28 15 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067322 18 24466195 GC G 540 PASS - - - - - Del - D 24466195 24466204 1 28 485.108 - - 8 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 6 3 7 4 33 16 33 16 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067443 18 25027778 CTT C 360 PASS - - - - - Del - D 25027778 25027781 2 12 325.813 - - 2 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 1 5 4 31 23 31 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067605 18 25687751 TA T 360 PASS CDH2 CCDS11891.1 r.? - - Del intronic D 25687751 25687761 1 16 325.813 - - 9 1 1 CDH2|CCDS11891.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH2|CCDS11891.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 3 3 3 4 26 21 26 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067657 18 25921639 CA C 540 PASS - - - - - Del - D 25921639 25921648 1 30 488.72 - - 8 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 4 6 6 19 31 19 31 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067697 18 26059241 CA C 360 PASS - - - - - Del - D 26059241 26059251 1 16 325.813 - - 9 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 3 3 5 20 41 20 41 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067700 18 26071609 TA T 300 PASS - - - - - Del - D 26071609 26071617 1 10 271.511 - - 7 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 1 5 3 22 18 22 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067770 18 26326892 A AT 360 PASS - - - - - Ins - I 26326892 26326902 1 15 321.599 - - 9 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 4 2 4 3 10 25 12 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067928 18 27037678 CT C 480 PASS - - - - - Del - D 27037678 27037683 1 21 434.418 - - 4 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 6 4 9 27 34 27 34 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760067954 18 27112825 T TA 300 PASS - - - - - Ins - I 27112825 27112833 1 12 268.501 - - 7 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 2 3 2 3 23 18 23 19 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760068646 18 29636058 TG T 360 PASS RNF125 CCDS11902.1 r.? - - Del intronic D 29636058 29636060 1 12 324.007 - - 1 1 1 RNF125|CCDS11902.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF125|CCDS11902.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 1 7 1 27 4 27 4 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760068680 18 29697468 GA G 420 PASS RNF138 CCDS11903.1 r.? - - Del intronic D 29697468 29697478 1 20 380.116 - - 9 1 1 RNF138|CCDS11903.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF138|CCDS11903.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 3 5 5 23 21 23 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760068735 18 29855649 CT C 600 PASS FAM59A CCDS11905.1 r.? - - Del intronic D 29855649 29855659 1 27 542.42 - - 9 1 1 FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 8 2 8 13 33 13 33 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760068748 18 29885014 T TA 420 PASS FAM59A CCDS11905.1 r.? - - Ins intronic I 29885014 29885024 1 20 375.901 - - 9 1 1 FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 8 21 8 0 0 ./. 4 3 4 5 35 30 36 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760068755 18 29923176 CA C 420 PASS FAM59A CCDS11905.1 r.? - - Del intronic D 29923176 29923183 1 18 380.116 - - 6 1 1 FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 5 2 6 22 31 22 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760068756 18 29936120 AT A 420 PASS FAM59A CCDS11905.1 r.? - - Del intronic D 29936120 29936128 1 18 380.116 - - 7 1 1 FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 5 3 5 22 34 22 34 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760068832 18 30231259 CT C 300 PASS - - - - - Del - D 30231259 30231267 1 12 271.511 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 5 3 27 21 27 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760068894 18 30414202 TA T 360 PASS - - - - - Del - D 30414202 30414211 1 16 319.191 - - 8 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 3 3 4 24 28 24 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069000 18 30999607 CA C 360 PASS C18orf34 CCDS42424.1 r.? - - Del intronic D 30999607 30999616 1 7 325.813 - - 8 1 1 C18orf34|CCDS42424.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C18orf34|CCDS42424.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 0 6 2 6 29 30 29 30 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069055 18 31163627 AT A 300 PASS ASXL3 CCDS45847.1 r.? - - Del intronic D 31163627 31163635 1 10 271.511 - - 7 1 1 ASXL3|CCDS45847.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASXL3|CCDS45847.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 1 6 1 20 28 20 28 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069101 18 31319985 GA G 300 PASS ASXL3 CCDS45847.1 r.2673delA c.2618delA p.V876fs*59 Del frameshift D 31319985 31319994 1 12 271.511 - - 8 1 1 ASXL3|CCDS45847.1|r.2673delA|c.2618delA|p.V876fs*59|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ASXL3|CCDS45847.1|r.2673delA|c.2618delA|p.V876fs*59|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 7 3 29 15 29 15 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069172 18 31568758 CA C 300 PASS NOL4 CCDS11907.2 r.? - - Del intronic D 31568758 31568766 1 10 270.909 - - 7 1 1 NOL4|CCDS11907.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOL4|CCDS11907.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 4 3 5 30 29 30 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069226 18 31850482 CT C 300 PASS - - - - - Del - D 31850482 31850491 1 6 271.511 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 0 5 0 39 4 39 4 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069256 18 32003928 A AT 336 PASS - - - - - Ins - I 32003928 32003938 1 15 320.395 - - 9 1 1 - - ./. 0 0 0 0 22 11 23 11 0 0 ./. 4 2 4 2 21 14 22 14 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069263 18 32035038 AT A 251 PASS - - - - - Del - D 32035038 32035045 1 10 269.705 - - 6 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 1 5 1 21 27 21 27 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069353 18 32464577 ACT A 300 PASS DTNA CCDS45848.1 r.? - - Del intronic D 32464577 32464592 2 12 271.511 - - 7 1 1 DTNA|CCDS45848.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DTNA|CCDS45848.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 2 5 3 33 9 33 9 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069522 18 32941843 GT G 389 PASS ZNF396 CCDS11913.1 r.? - - Del downstream D 32941843 32941853 1 18 380.116 - - 9 1 1 ZNF396|CCDS11913.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF396|CCDS11913.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 2 7 5 26 32 26 32 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069532 18 32970936 C CA 360 PASS - - - - - Ins - I 32970936 32970945 1 15 322.201 - - 8 1 1 - - ./. 0 0 0 0 11 18 12 18 0 0 ./. 4 2 5 3 28 11 28 12 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069534 18 32975250 G GT 480 PASS - - - - - Ins - I 32975250 32975258 1 24 429.601 - - 7 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 5 3 7 19 37 19 38 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069544 18 33015494 GT G 300 PASS - - - - - Del - D 33015494 33015500 1 12 271.511 - - 5 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 3 3 5 31 19 31 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069622 18 33232838 A AT 420 PASS GALNT1 CCDS11915.1 r.? - - Ins upstream I 33232838 33232846 1 14 375.901 - - 7 1 1 GALNT1|CCDS11915.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 GALNT1|ENST00000392829|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 12 9 0 0 ./. 1 6 1 7 11 21 12 21 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069660 18 33331062 AC A 480 PASS - - - - - Del - D 33331062 33331070 1 25 434.418 - - 7 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 4 4 6 6 29 27 29 27 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069730 18 33653422 TA T 540 PASS - - - - - Del - D 33653422 33653432 1 28 488.72 - - 9 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 3 6 3 6 30 33 30 33 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069814 18 33825262 AT A 420 PASS MOCOS CCDS11919.1 r.? - - Del intronic D 33825262 33825271 1 20 380.116 - - 8 1 1 MOCOS|CCDS11919.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MOCOS|CCDS11919.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 3 7 4 33 21 33 21 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760069833 18 33871943 AT A 300 PASS - - - - - Del - D 33871943 33871953 1 12 271.511 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 3 4 23 23 23 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070045 18 34738005 CT C 300 PASS KIAA1328 CCDS45855.1 r.? - - Del intronic D 34738005 34738015 1 12 269.103 - - 9 1 - KIAA1328|CCDS45855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1328|CCDS45855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 2 4 3 22 13 22 13 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070071 18 34887585 AG A 540 PASS CELF4 CCDS32818.1 r.? - - Del intronic D 34887585 34887591 1 30 488.72 - - 5 1 1 CELF4|CCDS32818.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CELF4|CCDS32818.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 4 6 5 26 18 26 18 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070075 18 34901048 TG T 300 PASS CELF4 CCDS32818.1 r.? - - Del intronic D 34901048 34901057 1 12 271.511 - - 8 1 1 CELF4|CCDS32818.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CELF4|CCDS32818.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 9 4 26 23 26 23 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070194 18 35380618 C CT 540 PASS - - - - - Ins - I 35380618 35380627 1 28 483.302 - - 8 1 1 - - ./. 0 0 0 0 21 15 21 16 0 0 ./. 6 3 6 4 27 32 27 32 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070348 18 36015483 T TA 360 PASS - - - - - Ins - I 36015483 36015493 1 16 322.201 - - 9 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 3 4 3 26 37 26 38 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070510 18 36605687 C CA 360 PASS - - - - - Ins - I 36605687 36605694 1 15 322.201 - - 6 1 1 - - ./. 0 0 0 0 7 20 7 20 0 0 ./. 4 2 4 4 35 23 36 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070516 18 36622163 CAA C 360 PASS - - - - - Del - D 36622163 36622168 2 15 320.395 - - 4 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 4 5 4 29 17 29 17 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070553 18 36753241 GA G 360 PASS - - - - - Del - D 36753241 36753251 1 16 325.813 - - 9 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 3 4 5 18 33 18 33 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070599 18 37021900 GT G 300 PASS AC105201.1 ENST00000510201 r.? - - Del intronic D 37021900 37021910 1 12 271.511 - - 9 1 1 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 3 3 14 29 14 29 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070744 18 37535342 GA G 300 PASS - - - - - Del - D 37535342 37535350 1 12 271.511 - - 7 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 2 3 3 4 5 26 5 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070755 18 37582451 TA T 300 PASS - - - - - Del - D 37582451 37582460 1 12 271.511 - - 8 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 3 4 4 20 23 20 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760070855 18 37966373 AG A 300 PASS - - - - - Del - D 37966373 37966376 1 12 270.307 - - 2 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 6 3 34 18 34 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071084 18 38914321 TA T 600 PASS - - - - - Del - D 38914321 38914331 1 35 541.216 - - 9 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 6 4 9 4 25 20 25 20 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071194 18 39354741 TA T 291 PASS - - - - - Del - D 39354741 39354751 1 16 325.813 - - 9 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 3 4 6 26 24 26 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071278 18 39663690 A AT 420 PASS PIK3C3 CCDS11920.1 r.5339_5340insu c.? p.? Ins 3'UTR variant I 39663690 39663697 1 20 375.901 - - 6 1 1 PIK3C3|CCDS11920.1|r.5339_5340insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 PIK3C3|CCDS11920.1|r.5339_5340insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 17 7 17 7 0 0 ./. 3 4 6 6 29 27 31 27 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071298 18 39727081 GA G 300 PASS - - - - - Del - D 39727081 39727091 1 6 271.511 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 0 5 0 6 10 27 10 27 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071435 18 40152474 GT G 420 PASS - - - - - Del - D 40152474 40152481 1 20 380.116 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 4 4 5 24 21 24 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071504 18 40435871 AT A 360 PASS RIT2 CCDS11921.1 r.? - - Del intronic D 40435871 40435880 1 12 325.813 - - 8 1 1 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 1 7 1 38 17 38 17 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071590 18 40818786 AT A 418 PASS - - - - - Del - D 40818786 40818793 1 9 434.418 - - 6 1 1 - - ./. 0 0 0 0 6 19 6 19 0 0 ./. 0 8 0 9 13 35 13 35 0 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071765 18 41572394 CA C 300 PASS - - - - - Del - D 41572394 41572403 1 10 271.511 - - 8 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 1 4 2 5 11 25 11 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071813 18 41774609 C CT 420 PASS - - - - - Ins - I 41774609 41774618 1 20 375.299 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 3 5 4 21 21 21 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071952 18 42301766 TG T 600 PASS SETBP1 CCDS11923.2 r.? - - Del intronic D 42301766 42301772 1 35 543.022 - - 5 1 1 SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 6 4 8 6 33 24 33 24 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071973 18 42387435 TTTTG T 360 PASS SETBP1 CCDS11923.2 r.? - - Del intronic D 42387435 42387459 4 16 325.813 - - 5 1 - SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 3 3 4 20 25 20 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760071999 18 42492447 G GT 300 PASS SETBP1 CCDS11923.2 r.? - - Ins intronic I 42492447 42492456 1 12 268.501 - - 8 1 - SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 2 3 4 4 23 33 24 33 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760072148 18 43064694 GTC G 269 PASS - - - - - Del - D 43064694 43064712 2 12 269.705 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 3 4 31 22 31 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760072186 18 43212973 AT A 420 PASS SLC14A2 CCDS11924.1 r.? - - Del intronic D 43212973 43212982 1 18 380.116 - - 8 1 1 SLC14A2|CCDS11924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC14A2|CCDS11924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 5 2 6 5 33 35 33 35 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760072326 18 43695593 CA C 300 PASS HAUS1 CCDS11928.1 r.? - - Del intronic D 43695593 43695603 1 12 268.501 - - 9 1 1 HAUS1|CCDS11928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HAUS1|CCDS11928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 2 5 3 14 31 14 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760072331 18 43705225 CA C 360 PASS HAUS1 CCDS11928.1 r.? - - Del intronic D 43705225 43705235 1 16 324.007 - - 9 1 1 HAUS1|CCDS11928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HAUS1|CCDS11928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 3 4 3 21 19 21 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760072373 18 43783574 G GT 300 PASS C18orf25 CCDS42430.1 r.? - - Ins intronic I 43783574 43783584 1 12 263.082 - - 9 1 1 C18orf25|CCDS42430.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C18orf25|CCDS42430.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 9 10 0 0 ./. 3 2 4 5 28 29 28 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760072485 18 44223641 CA C 300 PASS LOXHD1 ENST00000441551 r.? - - Del intronic D 44223641 44223651 1 10 271.511 - - 9 1 1 LOXHD1|ENST00000441551|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LOXHD1|ENST00000441551|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 1 4 4 7 17 26 17 26 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760072667 18 44673870 CA C 300 PASS HDHD2 CCDS32829.1 r.? - - Del intronic D 44673870 44673878 1 12 271.511 - - 7 1 1 HDHD2|CCDS32829.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HDHD2|CCDS32829.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 3 4 18 15 18 15 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760072675 18 44683697 GA G 329 PASS IER3IP1 CCDS11933.1 r.? - - Del intronic D 44683697 44683706 1 12 314.976 - - 8 1 1 IER3IP1|CCDS11933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IER3IP1|CCDS11933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 1 5 2 7 26 30 26 30 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760072781 18 45035578 GT G 420 PASS - - - - - Del - D 45035578 45035587 1 18 380.116 - - 8 1 - - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 5 4 6 26 26 26 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760072871 18 45343845 AT A 360 PASS - - - - - Del - D 45343845 45343855 1 15 325.813 - - 9 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 2 4 3 5 28 22 28 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760072873 18 45353720 TA T 410 PASS SMAD2 CCDS11934.1 r.? - - Del downstream D 45353720 45353730 1 20 380.116 - - 9 1 1 SMAD2|CCDS11934.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SMAD2|CCDS11934.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 4 3 4 25 27 25 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760073094 18 46085727 AC A 540 PASS KIAA0427 CCDS45864.1 r.? - - Del intronic D 46085727 46085736 1 30 487.516 - - 8 1 1 KIAA0427|CCDS45864.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA0427|CCDS45864.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 4 7 6 35 26 35 26 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760073137 18 46226849 TC T 480 PASS KIAA0427 CCDS45864.1 r.? - - Del intronic D 46226849 46226856 1 25 433.816 - - 6 1 1 KIAA0427|CCDS45864.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0427|CCDS45864.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 4 4 5 26 27 26 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760073158 18 46307398 AC A 300 PASS KIAA0427 CCDS45864.1 r.? - - Del intronic D 46307398 46307406 1 10 271.511 - - 7 1 1 KIAA0427|CCDS45864.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0427|CCDS45864.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 1 5 2 26 22 26 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760073277 18 46577325 CA C 480 PASS DYM CCDS11937.1 r.? - - Del intronic D 46577325 46577331 1 25 433.816 - - 5 1 1 DYM|CCDS11937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DYM|CCDS11937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 4 4 6 24 26 24 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760073659 18 47573093 C CA 378 PASS MYO5B CCDS42436.1 r.? - - Ins intronic I 47573093 47573101 1 25 428.397 - - 7 1 1 MYO5B|CCDS42436.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYO5B|CCDS42436.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 4 6 5 29 28 29 28 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760073707 18 47721785 GA G 389 PASS MYO5B CCDS42436.1 r.? - - Del upstream D 47721785 47721792 1 18 375.901 - - 6 1 1 MYO5B|CCDS42436.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 MYO5B|CCDS42436.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 5 2 11 26 37 26 37 2 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760073828 18 48166845 CT C 540 PASS MAPK4 CCDS42437.1 r.? - - Del intronic D 48166845 48166854 1 30 488.118 - - 8 1 - MAPK4|CCDS42437.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAPK4|CCDS42437.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 4 5 4 27 11 27 11 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760073842 18 48262549 TG T 540 PASS MAPK4 CCDS42437.1 r.? - - Del downstream D 48262549 48262554 1 24 488.72 - - 4 1 1 MAPK4|CCDS42437.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MAPK4|CCDS42437.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 18 8 18 0 0 ./. 2 7 2 7 27 26 27 26 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760074641 18 50845815 GA G 535 PASS DCC CCDS11952.1 r.? - - Del intronic D 50845815 50845824 1 24 488.72 - - 8 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 7 2 8 7 21 30 21 30 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760074649 18 50867715 CA C 269 PASS DCC CCDS11952.1 r.? - - Del intronic D 50867715 50867724 1 10 271.511 - - 8 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 1 6 2 32 15 32 15 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760074850 18 51422312 CA C 300 PASS - - - - - Del - D 51422312 51422322 1 12 271.511 - - 9 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 3 2 5 6 15 16 15 16 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075007 18 51857109 CT C 300 PASS STARD6 CCDS11955.1 r.? - - Del intronic D 51857109 51857117 1 6 271.511 - - 7 1 1 STARD6|CCDS11955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STARD6|CCDS11955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 0 6 0 30 16 30 16 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075068 18 52034384 T TA 290 PASS - - - - - Ins - I 52034384 52034392 1 16 321.599 - - 7 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 3 3 5 20 25 21 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075242 18 52778694 GC G 420 PASS - - - - - Del - D 52778694 52778701 1 14 380.116 - - 6 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 1 6 1 28 16 28 16 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075283 18 52895519 AG A 420 PASS TCF4 CCDS42438.1 r.2564delC c.1952delC p.P651fs*32 Del frameshift D 52895519 52895525 1 18 380.116 - - 5 1 1 TCF4|CCDS42438.1|r.2564delC|c.1952delC|p.P651fs*32|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 TCF4|CCDS42438.1|r.2564delC|c.1952delC|p.P651fs*32|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 4 11 4 0 0 ./. 5 2 6 2 20 14 20 14 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075296 18 52935376 GT G 360 PASS TCF4 CCDS42438.1 r.? - - Del intronic D 52935376 52935385 1 15 325.813 - - 8 1 1 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 4 2 5 31 22 31 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075301 18 52954307 GA G 480 PASS TCF4 CCDS42438.1 r.? - - Del intronic D 52954307 52954317 1 21 432.612 - - 9 1 1 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 6 2 6 22 16 22 16 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075314 18 52981171 TC T 360 PASS TCF4 CCDS42438.1 r.? - - Del intronic D 52981171 52981179 1 12 325.813 - - 7 1 1 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 5 1 6 2 23 6 23 6 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075354 18 53152558 TC T 600 PASS TCF4 CCDS42438.1 r.? - - Del intronic D 53152558 53152564 1 35 543.022 - - 5 1 1 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 4 7 4 27 22 27 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075397 18 53342154 GT G 360 PASS - - - - - Del - D 53342154 53342162 1 15 325.813 - - 7 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 2 6 4 26 27 26 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075473 18 53635085 AT A 329 PASS - - - - - Del - D 53635085 53635095 1 15 325.813 - - 9 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 2 5 2 22 20 22 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075475 18 53644466 ATC A 480 PASS - - - - - Del - D 53644466 53644477 2 25 434.418 - - 5 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 4 4 4 21 28 21 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075553 18 53931864 CA C 780 PASS - - - - - Del - D 53931864 53931871 1 56 705.929 - - 6 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 6 7 6 8 33 33 33 33 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075557 18 53941429 AT A 360 PASS - - - - - Del - D 53941429 53941438 1 15 325.813 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 2 5 2 22 21 22 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075600 18 54124066 G GA 420 PASS - - - - - Ins - I 54124066 54124074 1 20 375.901 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 10 0 0 ./. 4 3 6 3 28 14 28 14 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075699 18 54387514 CA C 360 PASS WDR7 CCDS11962.1 r.? - - Del intronic D 54387514 54387524 1 16 325.211 - - 9 1 1 WDR7|CCDS11962.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR7|CCDS11962.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 3 5 4 11 18 11 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075804 18 54848430 AT A 420 PASS - - - - - Del - D 54848430 54848437 1 8 380.116 - - 6 1 1 - - ./. 0 0 0 0 6 19 6 19 0 0 ./. 7 0 7 0 38 16 38 16 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760075888 18 55118384 CT C 360 PASS ONECUT2 CCDS42440.1 r.? - - Del intronic D 55118384 55118391 1 7 317.987 - - 6 1 1 ONECUT2|CCDS42440.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ONECUT2|CCDS42440.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 6 0 7 0 40 1 40 1 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760076046 18 55478428 AT A 569 PASS AC022724.2 ENST00000507923 r.? - - Del downstream D 55478428 55478435 1 36 540.614 - - 6 1 1 AC022724.2|ENST00000507923|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 AC022724.2|ENST00000507923|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 5 5 6 21 27 21 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760076256 18 56022449 GA G 540 PASS NEDD4L CCDS45872.1 r.? - - Del intronic D 56022449 56022458 1 28 488.72 - - 8 1 1 NEDD4L|CCDS45872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEDD4L|CCDS45872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 6 3 11 5 34 30 34 30 11 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760076600 18 56872643 A AT 420 PASS - - - - - Ins - I 56872643 56872649 1 18 375.901 - - 5 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 5 3 5 28 28 28 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760076764 18 57360708 TA T 269 PASS CCBE1 CCDS32838.1 r.? - - Del intronic D 57360708 57360715 1 10 271.511 - - 6 1 1 CCBE1|CCDS32838.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCBE1|CCDS32838.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 1 5 1 34 17 34 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760077002 18 58045393 A AT 360 PASS - - - - - Ins - I 58045393 58045399 1 16 322.201 - - 5 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 3 5 4 27 17 27 17 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760077145 18 58519733 TAAAC T 300 PASS - - - - - Del - D 58519733 58519741 4 12 271.511 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 4 2 31 29 31 29 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760077156 18 58571789 AT A 300 PASS - - - - - Del - D 58571789 58571799 1 12 271.511 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 3 3 4 25 24 25 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760077182 18 58711269 AT A 289 PASS - - - - - Del - D 58711269 58711276 1 20 379.514 - - 6 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 3 4 3 6 23 21 23 21 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760077244 18 59024973 GT G 689 PASS - - - - - Del - D 59024973 59024983 1 48 651.627 - - 9 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 5 7 7 8 27 32 27 32 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760077271 18 59127327 CA C 300 PASS - - - - - Del - D 59127327 59127337 1 12 271.511 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 5 2 33 25 33 25 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760077589 18 60051042 CT C 420 PASS TNFRSF11A CCDS11980.1 r.? - - Del intronic D 60051042 60051052 1 20 378.309 - - 9 1 1 TNFRSF11A|CCDS11980.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNFRSF11A|CCDS11980.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 3 6 6 33 26 33 26 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760077659 18 60289213 C CA 420 PASS - - - - - Ins - I 60289213 60289220 1 18 374.697 - - 6 1 1 - - ./. 0 0 0 0 11 6 12 6 0 0 ./. 2 5 5 7 39 38 39 39 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760077946 18 61154391 CT C 300 PASS SERPINB5 CCDS32839.1 r.? - - Del intronic D 61154391 61154399 1 12 271.511 - - 7 1 1 SERPINB5|CCDS32839.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SERPINB5|CCDS32839.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 3 5 23 28 23 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760078085 18 61658777 GT G 660 PASS SERPINB8 CCDS11991.1 r.? - - Del downstream D 61658777 61658787 1 42 597.325 - - 9 1 1 SERPINB8|CCDS11991.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SERPINB8|CCDS11991.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 23 19 23 19 0 0 ./. 5 6 6 7 27 16 27 16 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760078159 18 61979578 GT G 300 PASS - - - - - Del - D 61979578 61979587 1 10 270.307 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 1 5 1 23 17 23 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760078316 18 62366847 TA T 360 PASS - - - - - Del - D 62366847 62366854 1 15 325.813 - - 6 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 4 2 5 16 21 16 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760078574 18 63317583 TG T 300 PASS - - - - - Del - D 63317583 63317586 1 12 271.511 - - 2 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 2 7 5 29 35 29 35 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760078623 18 63563365 AT A 480 PASS - - - - - Del - D 63563365 63563371 1 16 434.418 - - 5 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 7 1 7 1 26 17 26 17 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760078642 18 63664396 TA T 420 PASS - - - - - Del - D 63664396 63664406 1 14 380.116 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 1 7 2 30 19 30 19 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760078786 18 64325251 A AT 300 PASS - - - - - Ins - I 64325251 64325260 1 6 267.297 - - 8 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 0 5 1 7 13 26 13 26 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760079094 18 65308774 CA C 360 PASS AC114689.1 ENST00000500778 r.? - - Del intronic D 65308774 65308784 1 15 325.813 - - 9 1 1 AC114689.1|ENST00000500778|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC114689.1|ENST00000500778|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 4 2 5 6 17 6 17 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760079124 18 65439988 CT C 360 PASS AC114689.1 ENST00000500778 r.? - - Del intronic D 65439988 65439998 1 15 325.813 - - 9 1 1 AC114689.1|ENST00000500778|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC114689.1|ENST00000500778|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 2 5 4 21 22 21 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760079367 18 66065752 AT A 314 PASS - - - - - Del - D 66065752 66065762 1 16 325.813 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 3 5 4 38 21 38 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760079509 18 66439473 CT C 300 PASS CCDC102B CCDS11996.2 r.? - - Del intronic D 66439473 66439483 1 10 271.511 - - 9 1 1 CCDC102B|CCDS11996.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCDC102B|CCDS11996.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 1 5 2 20 15 20 15 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760079635 18 66855727 T TA 540 PASS - - - - - Ins - I 66855727 66855736 1 30 483.302 - - 8 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 4 5 4 7 26 15 26 16 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760079828 18 67408695 A AT 540 PASS DOK6 CCDS32841.1 r.? - - Ins intronic I 67408695 67408703 1 28 483.302 - - 7 1 1 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 3 6 3 7 15 25 16 25 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760079898 18 67580119 TTC T 480 PASS CD226 CCDS11997.1 r.? - - Del intronic D 67580119 67580132 2 25 434.418 - - 6 1 1 CD226|CCDS11997.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD226|CCDS11997.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 4 4 6 4 30 20 30 20 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760080026 18 67957703 GA G 300 PASS SOCS6 CCDS11998.1 r.? - - Del intronic D 67957703 67957711 1 6 269.705 - - 7 1 1 SOCS6|CCDS11998.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SOCS6|CCDS11998.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 0 5 0 7 25 38 25 38 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760080078 18 68089460 A AT 360 PASS AC013558.1 ENST00000511515 r.? - - Ins intronic I 68089460 68089469 1 15 318.589 - - 8 1 1 AC013558.1|ENST00000511515|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC013558.1|ENST00000511515|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 9 13 0 0 ./. 2 4 2 5 30 37 30 37 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760080157 18 68382572 GA G 326 PASS - - - - - Del - D 68382572 68382579 1 12 325.813 - - 6 1 1 - - ./. 0 0 0 0 25 13 25 13 0 0 ./. 1 5 3 11 35 40 35 40 3 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760080339 18 68941291 CA C 360 PASS - - - - - Del - D 68941291 68941301 1 15 325.813 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 4 4 6 19 31 19 31 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760080549 18 69634492 CA C 360 PASS - - - - - Del - D 69634492 69634500 1 16 325.211 - - 7 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 3 4 3 21 16 21 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760080634 18 70005159 AT A 420 PASS - - - - - Del - D 70005159 70005167 1 18 380.116 - - 7 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 5 2 6 3 31 8 31 8 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760080714 18 70287487 CT C 360 PASS - - - - - Del - D 70287487 70287497 1 16 325.813 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 3 3 4 27 24 27 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760080722 18 70307878 C CT 300 PASS - - - - - Ins - I 70307878 70307885 1 12 265.491 - - 6 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 2 3 2 3 14 9 15 9 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760080938 18 71001830 GT G 420 PASS - - - - - Del - D 71001830 71001838 1 18 380.116 - - 7 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 5 3 6 4 20 4 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760081069 18 71397976 CT C 300 PASS - - - - - Del - D 71397976 71397983 1 10 271.511 - - 6 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 1 4 4 6 31 38 31 38 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760081348 18 72276752 TA T 300 PASS - - - - - Del - D 72276752 72276761 1 12 271.511 - - 8 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 4 5 25 18 25 18 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760081363 18 72397156 AT A 300 PASS ZNF407 CCDS45885.1 r.? - - Del intronic D 72397156 72397165 1 6 271.511 - - 8 1 1 ZNF407|CCDS45885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF407|CCDS45885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 0 6 0 20 6 20 6 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760081380 18 72474667 TA T 420 PASS ZNF407 CCDS45885.1 r.? - - Del intronic D 72474667 72474672 1 18 378.912 - - 4 1 1 ZNF407|CCDS45885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF407|CCDS45885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 5 2 5 2 18 13 18 13 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760081456 18 72791462 GT G 389 PASS - - - - - Del - D 72791462 72791465 1 18 359.646 - - 2 1 - - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 5 6 7 27 28 27 28 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760081478 18 72871974 GT G 300 PASS - - - - - Del - D 72871974 72871983 1 10 271.511 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 1 6 1 27 26 27 26 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760081591 18 73249610 GT G 300 PASS - - - - - Del - D 73249610 73249620 1 10 271.511 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 1 5 1 23 11 23 11 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760081706 18 73708624 AT A 420 PASS - - - - - Del - D 73708624 73708633 1 20 379.514 - - 8 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 4 3 4 16 25 16 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760081947 18 74384281 CA C 540 PASS - - - - - Del - D 74384281 74384290 1 28 488.118 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 6 3 5 23 39 23 39 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760082007 18 74517793 AT A 300 PASS - - - - - Del - D 74517793 74517803 1 12 271.511 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 3 4 3 28 26 28 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760082156 18 74928695 CA C 658 PASS - - - - - Del - D 74928695 74928697 1 49 651.025 - - 1 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 6 6 6 8 29 31 29 31 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760082411 18 75683068 G GA 420 PASS AC134978.1 ENST00000505670 r.? - - Ins downstream I 75683068 75683075 1 18 375.901 - - 6 1 1 AC134978.1|ENST00000505670|r.?|-|-|non_protein_coding:insertion:500B_downstream_variant|SO:0000011:SO:0000667:SO:0001634 AC134978.1|ENST00000505670|r.?|-|-|non_protein_coding:insertion:500B_downstream_variant|SO:0000011:SO:0000667:SO:0001634 ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 5 4 8 31 26 31 26 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760082445 18 75849126 GT G 420 PASS - - - - - Del - D 75849126 75849136 1 18 377.707 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 2 6 4 35 27 35 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760082541 18 76123282 AT A 420 PASS - - - - - Del - D 76123282 76123289 1 14 380.116 - - 6 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 1 6 2 6 22 32 22 32 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760082545 18 76140891 TA T 300 PASS - - - - - Del - D 76140891 76140898 1 10 271.511 - - 6 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 1 4 1 4 23 15 23 15 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760082608 18 76271447 TC T 480 PASS - - - - - Del - D 76271447 76271449 1 21 432.01 - - 1 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 2 6 6 9 27 32 27 32 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760082904 18 77268803 ATC A 360 PASS NFATC1 CCDS12016.1 r.? - - Del intronic D 77268803 77268818 2 7 325.211 - - 7 1 1 NFATC1|CCDS12016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFATC1|CCDS12016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 0 6 2 6 26 29 26 29 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083033 18 77700228 CG C 300 PASS PQLC1 CCDS12020.1 r.? - - Del intronic D 77700228 77700235 1 12 271.511 - - 6 1 1 PQLC1|CCDS12020.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PQLC1|CCDS12020.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 4 2 20 29 20 29 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083053 18 77732074 TA T 360 PASS TXNL4A CCDS32852.1 r.? - - Del downstream D 77732074 77732081 1 16 325.813 - - 6 1 1 TXNL4A|CCDS32852.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TXNL4A|CCDS32852.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 3 3 3 28 20 28 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083086 18 77823566 AT A 300 PASS - - - - - Del - D 77823566 77823576 1 10 271.511 - - 9 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 1 7 3 26 27 26 27 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083116 18 77884425 AT A 360 PASS ADNP2 CCDS32853.1 r.? - - Del intronic D 77884425 77884433 1 7 324.609 - - 7 1 1 ADNP2|CCDS32853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADNP2|CCDS32853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 0 6 0 32 6 32 6 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083244 19 389958 GTC G 360 PASS - - - - - Del - D 389958 389973 2 15 325.622 - - 7 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 2 5 2 24 19 24 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083399 19 768828 G GT 269 PASS C19orf21 CCDS12042.1 r.? - - Ins downstream I 768828 768835 1 12 267.739 - - 6 1 1 C19orf21|CCDS12042.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 C19orf21|CCDS12042.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 14 7 15 0 0 ./. 2 3 5 4 29 37 29 37 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083520 19 1004498 A AC 300 PASS GRIN3B CCDS32861.1 r.? - - Ins intronic I 1004498 1004507 1 12 261.117 - - 8 1 1 GRIN3B|CCDS32861.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRIN3B|CCDS32861.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 6 5 26 26 26 26 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083531 19 1045657 TC T 300 PASS ABCA7 CCDS12055.1 r.? - - Del intronic D 1045657 1045665 1 12 265.933 - - 7 1 1 ABCA7|CCDS12055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCA7|CCDS12055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 2 4 5 20 26 20 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083550 19 1078447 G GT 300 PASS HMHA1 CCDS32863.1 r.? - - Ins intronic I 1078447 1078454 1 12 266.535 - - 6 1 1 HMHA1|CCDS32863.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HMHA1|CCDS32863.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 2 3 3 4 24 31 24 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083594 19 1180111 CT C 360 PASS - - - - - Del - D 1180111 1180120 1 15 325.622 - - 8 1 - - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 4 3 6 28 30 28 30 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083597 19 1185220 GA G 420 PASS - - - - - Del - D 1185220 1185229 1 14 379.892 - - 8 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 1 6 4 6 23 22 23 22 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083649 19 1312771 TG T 269 PASS MUM1 CCDS12062.1 r.? - - Del intronic D 1312771 1312779 1 12 270.75 - - 7 1 1 MUM1|CCDS12062.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MUM1|CCDS12062.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 2 3 2 5 21 25 21 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083690 19 1412211 AG A 420 PASS DAZAP1 CCDS12066.1 r.? - - Del intronic D 1412211 1412219 1 20 378.086 - - 7 1 1 DAZAP1|CCDS12066.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAZAP1|CCDS12066.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 3 4 5 5 17 27 17 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083695 19 1437836 ACCT A 509 PASS DAZAP1 CCDS12066.1 r.? - - Del downstream D 1437836 1437843 3 30 488.433 - - 2 1 1 DAZAP1|CCDS12066.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RPS15|CCDS12067.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 4 8 4 0 0 ./. 5 4 5 4 26 35 26 35 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083696 19 1443902 CAG C 300 PASS RPS15 CCDS12067.1 r.? - - Del downstream D 1443902 1443907 2 12 270.148 - - 2 1 1 RPS15|CCDS12067.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RPS15|CCDS12067.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 3 3 22 24 22 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083699 19 1449940 CG C 360 PASS APC2 CCDS12068.1 r.? - - Del upstream D 1449940 1449948 1 16 325.622 - - 7 1 1 APC2|CCDS12068.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 APC2|CCDS12068.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 3 3 4 38 21 38 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083758 19 1605924 CTT C 540 PASS TCF3 CCDS12074.1 r.? - - Del downstream D 1605924 1605928 2 30 487.831 - - 3 1 1 TCF3|CCDS12074.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 UQCR11|CCDS12073.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 6 8 6 8 0 0 ./. 5 4 5 4 21 24 21 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083774 19 1657095 TG T 540 PASS TCF3 CCDS12074.1 r.? - - Del upstream D 1657095 1657099 1 24 480.004 - - 3 1 1 TCF3|CCDS12074.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TCF3|CCDS12074.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 4 8 4 0 0 ./. 7 2 8 3 31 17 31 17 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083777 19 1663972 C CCCT 300 PASS - - - - - Ins - I 1663972 1663982 3 12 262.321 - - 3 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 3 2 3 3 25 22 25 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760083861 19 1825936 T TG 329 PASS MIR1909 CCDS32866.1 r.2012_2013insc c.1917_1918insC p.K640fs*6 Ins frameshift I 1825936 1825943 1 16 322.01 - - 6 1 1 MIR1909|CCDS32866.1|r.2012_2013insc|c.1917_1918insC|p.K640fs*6|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 MIR1909|CCDS32866.1|r.2012_2013insc|c.1917_1918insC|p.K640fs*6|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 5 10 6 10 0 0 ./. 3 3 4 3 31 21 31 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084111 19 2430510 TA T 360 PASS LMNB2 CCDS12090.1 r.2324delU c.? p.? Del 3'UTR variant D 2430510 2430518 1 15 323.214 - - 7 1 1 LMNB2|CCDS12090.1|r.2324delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 LMNB2|CCDS12090.1|r.2324delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 2 4 3 30 25 30 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084182 19 2555097 T TA 360 PASS GNG7 CCDS12091.1 r.? - - Ins intronic I 2555097 2555104 1 16 322.01 - - 6 1 1 GNG7|CCDS12091.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GNG7|CCDS12091.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 2 8 2 8 0 0 ./. 3 3 5 4 27 30 28 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084223 19 2603075 CT C 277 PASS GNG7 CCDS12091.1 r.? - - Del intronic D 2603075 2603084 1 10 271.352 - - 8 1 1 GNG7|CCDS12091.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GNG7|CCDS12091.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 1 4 1 5 24 27 24 27 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084366 19 2905881 GA G 397 PASS ZNF57 CCDS12098.1 r.? - - Del intronic D 2905881 2905890 1 18 378.086 - - 8 1 1 ZNF57|CCDS12098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF57|CCDS12098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 2 5 3 30 19 30 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084442 19 3027991 G GC 360 PASS TLE2 CCDS45911.1 r.? - - Ins intronic I 3027991 3028000 1 16 320.203 - - 8 1 1 TLE2|CCDS45911.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TLE2|CCDS45911.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 8 4 8 0 0 ./. 3 3 4 3 25 32 25 32 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084668 19 3471820 TG T 300 PASS C19orf77 CCDS45915.1 r.? - - Del downstream D 3471820 3471828 1 10 271.352 - - 7 1 1 C19orf77|CCDS45915.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C19orf77|CCDS45915.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 1 4 2 26 14 26 14 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084682 19 3517803 TAAAC T 269 PASS FZR1 CCDS12109.1 r.? - - Del intronic D 3517803 3517811 4 12 271.352 - - 1 1 1 FZR1|CCDS12109.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FZR1|CCDS12109.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 2 3 4 4 37 25 37 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084695 19 3571825 G GT 300 PASS RAX2 CCDS12112.1 r.? - - Ins intronic I 3571825 3571826 1 12 252.688 - - 0 1 1 RAX2|CCDS12112.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 RAX2|CCDS12112.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 13 8 0 0 ./. 3 2 5 3 30 25 30 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084731 19 3705637 TA T 420 PASS RAX2 CCDS12112.1 r.? - - Del intronic D 3705637 3705646 1 18 379.892 - - 8 1 1 RAX2|CCDS12112.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 RAX2|CCDS12112.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 2 7 2 28 30 28 30 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084855 19 3971320 G GA 360 PASS EEF2 CCDS12117.1 r.? - - Ins downstream I 3971320 3971327 1 16 318.999 - - 6 1 1 EEF2|CCDS12117.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 DAPK3|CCDS12116.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 3 5 4 27 23 27 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084868 19 3998869 TG T 569 PASS - - - - - Del - D 3998869 3998876 1 20 529.458 - - 6 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 1 9 4 10 25 34 25 34 4 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084887 19 4038620 TG T 420 PASS PIAS4 CCDS12118.1 r.2292delG c.? p.? Del 3'UTR variant D 4038620 4038628 1 8 379.892 - - 7 1 1 PIAS4|CCDS12118.1|r.2292delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PIAS4|CCDS12118.1|r.2292delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 4 17 4 0 0 ./. 7 0 9 0 28 11 28 11 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760084908 19 4074490 CA C 269 PASS - - - - - Del - D 4074490 4074499 1 12 268.943 - - 8 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 2 3 7 4 34 24 34 24 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760085173 19 4515293 G GT 449 PASS PLIN4 CCDS45927.1 r.? - - Ins intronic I 4515293 4515300 1 24 429.346 - - 6 1 1 PLIN4|CCDS45927.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLIN4|CCDS45927.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 5 3 8 3 35 13 35 13 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760085208 19 4593474 C CA 300 PASS - - - - - Ins - I 4593474 4593483 1 12 259.311 - - 8 1 1 - - ./. 0 0 0 0 15 11 15 12 0 0 ./. 2 3 4 4 30 21 30 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760085535 19 5222730 CG C 420 PASS PTPRS CCDS45930.1 r.3306delC c.3072delC p.V1025fs*18 Del frameshift D 5222730 5222738 1 14 378.688 - - 7 1 1 PTPRS|CCDS45930.1|r.3306delC|c.3072delC|p.V1025fs*18|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PTPRS|CCDS45930.1|r.3306delC|c.3072delC|p.V1025fs*18|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 1 7 1 30 14 30 14 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760085919 19 5942559 CA C 660 PASS RANBP3 CCDS42478.1 r.? - - Del intronic D 5942559 5942568 1 42 596.974 - - 8 1 1 RANBP3|CCDS42478.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RANBP3|CCDS42478.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 6 6 8 35 23 35 23 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760086000 19 6187352 TAAG T 356 PASS ACSBG2 CCDS12159.1 r.1842_1844delAAG c.1600_1602delAAG p.K536delK Del inframe D 6187352 6187363 3 25 434.163 - - 3 1 1 ACSBG2|CCDS12159.1|r.1842_1844delAAG|c.1600_1602delAAG|p.K536delK|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ACSBG2|CCDS12159.1|r.1842_1844delAAG|c.1600_1602delAAG|p.K536delK|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 5 10 5 10 0 0 ./. 4 4 4 6 28 27 28 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760086019 19 6247204 TG T 360 PASS MLLT1 CCDS12160.1 r.? - - Del intronic D 6247204 6247210 1 15 325.622 - - 5 1 1 MLLT1|CCDS12160.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MLLT1|CCDS12160.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 4 2 9 3 40 26 40 26 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760086099 19 6430130 GC G 269 PASS SLC25A41 CCDS45937.1 r.491delG c.405delG p.L136fs*75 Del frameshift D 6430130 6430138 1 12 252.086 - - 7 1 1 SLC25A41|CCDS45937.1|r.491delG|c.405delG|p.L136fs*75|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SLC25A41|CCDS45937.1|r.491delG|c.405delG|p.L136fs*75|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 4 11 4 0 0 ./. 2 3 2 3 23 19 23 19 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760086211 19 6606542 ATTGT A 389 PASS - - - - - Del - D 6606542 6606551 4 20 379.29 - - 2 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 3 4 5 29 28 29 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760086235 19 6640632 T TG 660 PASS - - - - - Ins - I 6640632 6640639 1 42 590.351 - - 6 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 6 6 8 29 31 29 31 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760086357 19 6887378 GGA G 300 PASS EMR1 CCDS12175.1 r.? - - Del upstream D 6887378 6887393 2 12 271.352 - - 7 1 1 EMR1|CCDS12175.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 EMR1|CCDS12175.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 2 3 3 25 27 25 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760086710 19 7518091 TC T 420 PASS ARHGEF18 CCDS45946.1 r.? - - Del intronic D 7518091 7518101 1 20 378.086 - - 9 1 1 ARHGEF18|CCDS45946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGEF18|CCDS45946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 3 6 7 21 35 21 35 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760086762 19 7622224 ACG A 269 PASS PNPLA6 CCDS32891.1 r.? - - Del intronic D 7622224 7622228 2 10 264.127 - - 1 1 1 PNPLA6|CCDS32891.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PNPLA6|CCDS32891.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 1 4 2 29 21 29 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760087032 19 8161914 TG T 300 PASS FBN3 CCDS12196.1 r.? - - Del intronic D 8161914 8161920 1 10 269.546 - - 5 1 1 FBN3|CCDS12196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBN3|CCDS12196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 4 1 6 1 31 17 31 17 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760087399 19 8885260 TC T 337 PASS - - - - - Del - D 8885260 8885269 1 13 647.03 - - 8 1 1 - - ./. 0 0 0 0 5 21 6 29 0 0 ./. 0 12 0 12 41 79 46 89 0 12 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760087851 19 9690604 C CA 600 PASS ZNF121 CCDS32902.1 r.? - - Ins intronic I 9690604 9690611 1 32 534.877 - - 6 1 1 ZNF121|CCDS32902.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF121|CCDS32902.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 7 5 7 28 34 28 35 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760087880 19 9765646 CA C 420 PASS ZNF562 CCDS45956.1 r.? - - Del intronic D 9765646 9765656 1 18 379.29 - - 9 1 1 ZNF562|CCDS45956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF562|CCDS45956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 5 2 8 4 32 37 32 37 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760087933 19 9884087 A AGT 300 PASS ZNF846 CCDS42496.1 r.? - - Ins upstream I 9884087 9884102 2 10 265.331 - - 7 1 - ZNF846|CCDS42496.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ZNF846|CCDS42496.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 8 14 9 14 0 0 ./. 4 1 5 2 30 14 30 15 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760088055 19 10090753 TC T 418 PASS COL5A3 CCDS12222.1 r.? - - Del intronic D 10090753 10090760 1 24 434.163 - - 6 1 1 COL5A3|CCDS12222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL5A3|CCDS12222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 5 5 7 27 29 27 29 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760088126 19 10210921 CA C 387 PASS ANGPTL6 CCDS12224.1 r.? - - Del intronic D 10210921 10210931 1 21 434.163 - - 9 1 1 ANGPTL6|CCDS12224.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ANGPTL6|CCDS12224.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 6 4 7 26 27 26 27 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760088166 19 10292523 C CA 420 PASS DNMT1 CCDS45958.1 r.? - - Ins intronic I 10292523 10292533 1 14 374.474 - - 9 1 1 DNMT1|CCDS45958.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNMT1|CCDS45958.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 1 9 3 34 17 34 17 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760088205 19 10341541 G GC 300 PASS S1PR2 CCDS12229.1 r.? - - Ins intronic I 10341541 10341551 1 10 266.535 - - 9 1 1 S1PR2|CCDS12229.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 S1PR2|CCDS12229.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 1 10 3 32 27 32 27 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760088447 19 10815271 CT C 300 PASS QTRT1 CCDS12248.1 r.? - - Del intronic D 10815271 10815281 1 12 268.341 - - 9 1 1 QTRT1|CCDS12248.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 QTRT1|CCDS12248.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 3 3 5 27 22 27 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760088487 19 10896495 C CT 389 PASS DNM2 CCDS45969.1 r.? - - Ins intronic I 10896495 10896505 1 18 375.678 - - 9 1 1 DNM2|CCDS45969.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNM2|CCDS45969.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 2 6 3 35 25 35 26 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760088574 19 11150031 GA G 420 PASS SMARCA4 CCDS45971.1 r.? - - Del intronic D 11150031 11150039 1 20 379.892 - - 7 1 1 SMARCA4|CCDS45971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMARCA4|CCDS45971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 4 4 5 12 32 12 32 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760088701 19 11366245 CT C 346 PASS DOCK6 CCDS45975.1 r.? - - Del intronic D 11366245 11366254 1 16 323.816 - - 8 1 1 DOCK6|CCDS45975.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK6|CCDS45975.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 3 3 4 21 29 21 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760088755 19 11471110 T TA 300 PASS ENSG00000105520 CCDS12258.1 r.? - - Ins intronic I 11471110 11471119 1 10 267.137 - - 8 1 1 ENSG00000105520|CCDS12258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000105520|CCDS12258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 1 4 3 7 24 29 24 29 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760088801 19 11577822 TG T 485 PASS ELAVL3 CCDS32912.1 r.? - - Del intronic D 11577822 11577829 1 28 487.229 - - 6 1 1 ELAVL3|CCDS32912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELAVL3|CCDS32912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 6 4 7 25 26 25 26 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760088806 19 11596767 AT A 360 PASS ELAVL3 CCDS32912.1 r.? - - Del upstream D 11596767 11596776 1 15 324.418 - - 8 1 1 ELAVL3|CCDS32912.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZNF653|CCDS12261.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 13 4 13 0 0 ./. 4 2 5 3 29 27 29 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760089045 19 12142917 CT C 360 PASS ZNF433 CCDS45983.1 r.? - - Del intronic D 12142917 12142927 1 16 325.02 - - 9 1 1 ZNF433|CCDS45983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF433|CCDS45983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 3 3 5 34 24 34 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760089108 19 12325990 G GT 540 PASS - - - - - Ins - I 12325990 12325999 1 30 483.015 - - 8 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 5 4 6 5 15 32 15 32 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760089311 19 12777568 GC G 420 PASS MAN2B1 CCDS32919.1 r.? - - Del upstream D 12777568 12777573 1 20 378.688 - - 4 1 1 MAN2B1|CCDS32919.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 MAN2B1|CCDS32919.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 4 5 6 25 29 25 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760089318 19 12800973 GC G 360 PASS FBXW9 CCDS12278.2 r.? - - Del intronic D 12800973 12800982 1 15 325.622 - - 8 1 1 FBXW9|CCDS12278.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXW9|ENST00000380339|r.961delG|c.924delG|p.P309fs*22|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 5 6 5 6 0 0 ./. 4 2 7 4 19 28 19 28 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760089563 19 13347712 TG T 300 PASS CACNA1A CCDS45998.1 r.? - - Del intronic D 13347712 13347721 1 10 271.352 - - 8 1 1 CACNA1A|CCDS45998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1A|CCDS45998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 1 4 4 6 18 31 18 31 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760089655 19 13538759 GT G 420 PASS CACNA1A CCDS45998.1 r.? - - Del intronic D 13538759 13538769 1 20 379.29 - - 9 1 1 CACNA1A|CCDS45998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1A|CCDS45998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 4 7 4 0 0 ./. 4 3 5 3 30 20 30 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760089693 19 13631256 CT C 360 PASS - - - - - Del - D 13631256 13631264 1 7 325.622 - - 7 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 0 6 1 7 7 45 7 45 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760089741 19 13761989 CA C 360 PASS - - - - - Del - D 13761989 13761997 1 16 325.622 - - 7 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 3 4 4 31 23 31 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760089826 19 13924428 GA G 300 PASS ZSWIM4 CCDS32924.1 r.? - - Del intronic D 13924428 13924438 1 12 271.352 - - 9 1 1 ZSWIM4|CCDS32924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZSWIM4|CCDS32924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 2 3 5 22 25 22 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760089871 19 14042032 T TG 480 PASS CC2D1A CCDS42512.1 r.? - - Ins downstream I 14042032 14042041 1 21 429.346 - - 8 1 1 CC2D1A|CCDS42512.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 CC2D1A|CCDS42512.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 6 4 6 4 0 0 ./. 2 6 3 7 22 34 22 34 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760089988 19 14365463 AT A 300 PASS - - - - - Del - D 14365463 14365471 1 10 271.352 - - 7 1 1 - - ./. 0 0 0 0 12 3 12 3 0 0 ./. 4 1 4 2 34 12 34 12 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760090039 19 14431800 CT C 420 PASS - - - - - Del - D 14431800 14431810 1 20 376.28 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 4 4 5 27 25 27 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760090537 19 15320501 C CA 300 PASS - - - - - Ins - I 15320501 15320510 1 12 267.137 - - 8 1 1 - - ./. 0 0 0 0 15 20 15 21 0 0 ./. 2 3 2 5 26 27 26 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760090584 19 15493914 A AT 480 PASS AKAP8 CCDS12329.1 r.? - - Ins upstream I 15493914 15493920 1 24 429.346 - - 5 1 1 AKAP8|CCDS12329.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 AKAP8L|CCDS46005.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 3 7 3 33 24 34 24 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760090689 19 15716625 AT A 300 PASS - - - - - Del - D 15716625 15716632 1 6 270.75 - - 6 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 5 0 8 0 25 20 25 20 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760090796 19 16111959 CT C 840 PASS - - - - - Del - D 16111959 16111968 1 64 759.785 - - 8 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 7 7 10 7 35 26 35 26 10 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760090804 19 16164183 AT A 420 PASS - - - - - Del - D 16164183 16164192 1 18 379.892 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 2 6 3 32 18 32 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760090898 19 16331211 G GT 480 PASS AP1M1 CCDS46008.1 r.? - - Ins intronic I 16331211 16331220 1 24 423.326 - - 8 1 1 AP1M1|CCDS46008.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AP1M1|CCDS46008.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 5 3 6 6 32 31 32 31 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760090955 19 16421909 GA G 300 PASS - - - - - Del - D 16421909 16421919 1 6 267.739 - - 9 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 0 6 1 28 7 28 7 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760091049 19 16592553 GC G 250 PASS CALR3 CCDS12344.1 r.? - - Del intronic D 16592553 16592560 1 12 271.352 - - 6 1 1 CALR3|CCDS12344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CALR3|CCDS12344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 3 2 5 13 25 13 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760091330 19 17114267 CAA C 300 PASS CPAMD8 CCDS42519.1 r.? - - Del intronic D 17114267 17114271 2 10 270.148 - - 3 1 1 CPAMD8|CCDS42519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPAMD8|CCDS42519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 1 4 2 4 20 29 20 29 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760091335 19 17119747 CA C 360 PASS CPAMD8 CCDS42519.1 r.? - - Del intronic D 17119747 17119757 1 12 325.622 - - 9 1 1 CPAMD8|CCDS42519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPAMD8|CCDS42519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 5 2 5 23 29 23 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760091598 19 17550833 CA C 403 PASS TMEM221 ENST00000341130 r.? - - Del intronic D 17550833 17550840 1 14 365.443 - - 6 1 1 TMEM221|ENST00000341130|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM221|ENST00000341130|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 6 1 6 1 23 26 23 26 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760091810 19 17975658 CT C 300 PASS RPL18A CCDS12367.1 r.? - - Del downstream D 17975658 17975666 1 12 271.352 - - 7 1 1 RPL18A|CCDS12367.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RPL18A|CCDS12367.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 6 14 6 0 0 ./. 2 3 4 4 25 27 25 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760091963 19 18269441 CA C 449 PASS PIK3R2 CCDS12371.1 r.? - - Del intronic D 18269441 18269450 1 24 434.163 - - 8 1 1 PIK3R2|CCDS12371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIK3R2|CCDS12371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 3 6 4 18 28 18 28 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092070 19 18408170 CA C 360 PASS - - - - - Del - D 18408170 18408180 1 15 325.02 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 4 2 5 33 36 33 36 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092102 19 18466078 CT C 509 PASS PGPEP1 CCDS12375.1 r.? - - Del intronic D 18466078 18466088 1 30 484.219 - - 9 1 1 PGPEP1|CCDS12375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PGPEP1|CCDS12375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 5 4 7 4 25 25 25 25 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092153 19 18620616 AC A 322 PASS ELL CCDS12380.1 r.? - - Del intronic D 18620616 18620624 1 15 325.622 - - 7 1 1 ELL|CCDS12380.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELL|CCDS12380.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 6 2 28 25 28 25 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092216 19 18806124 CT C 420 PASS CRTC1 CCDS42525.1 r.? - - Del intronic D 18806124 18806132 1 18 379.892 - - 7 1 1 CRTC1|CCDS42525.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRTC1|CCDS42525.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 2 5 12 6 28 32 28 32 12 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092281 19 18992637 AT A 300 PASS GDF1 CCDS42526.1 r.? - - Del intronic D 18992637 18992647 1 10 271.352 - - 9 1 1 GDF1|CCDS42526.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GDF1|CCDS42526.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 1 4 1 31 21 31 21 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092380 19 19224871 AT A 360 PASS SLC25A42 CCDS32966.1 r.? - - Del downstream D 19224871 19224881 1 12 323.816 - - 9 1 1 SLC25A42|CCDS32966.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SLC25A42|CCDS32966.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 1 7 3 27 29 27 29 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092422 19 19343648 TA T 360 PASS NCAN CCDS12397.1 r.? - - Del intronic D 19343648 19343656 1 16 325.622 - - 7 1 1 NCAN|CCDS12397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCAN|CCDS12397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 3 4 5 18 24 18 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092440 19 19414335 CA C 540 PASS SF4 CCDS12399.1 r.? - - Del intronic D 19414335 19414343 1 30 487.831 - - 7 1 1 SF4|CCDS12399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SF4|CCDS12399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 4 6 6 20 20 20 20 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092479 19 19493750 GA G 420 PASS GATAD2A CCDS12402.2 r.? - - Del upstream D 19493750 19493760 1 20 376.28 - - 9 1 1 GATAD2A|CCDS12402.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 GATAD2A|CCDS12402.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 3 5 4 25 27 25 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092487 19 19505758 CT C 420 PASS GATAD2A CCDS12402.2 r.? - - Del intronic D 19505758 19505768 1 18 374.474 - - 9 1 1 GATAD2A|CCDS12402.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GATAD2A|CCDS12402.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 5 4 5 24 28 24 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092488 19 19513960 CTTAA C 298 PASS GATAD2A CCDS12402.2 r.? - - Del intronic D 19513960 19513968 4 16 325.622 - - 1 1 1 GATAD2A|CCDS12402.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GATAD2A|CCDS12402.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 3 3 4 3 22 20 22 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092621 19 19901779 GT G 360 PASS ZNF506 CCDS42531.1 r.? - - Del intronic D 19901779 19901789 1 7 321.408 - - 9 1 1 ZNF506|CCDS42531.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ZNF506|CCDS42531.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 0 7 0 23 2 23 2 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092635 19 19969669 TA T 360 PASS AC011477.2 ENST00000499171 r.? - - Del intronic D 19969669 19969679 1 7 325.622 - - 9 1 1 AC011477.2|ENST00000499171|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC011477.2|ENST00000499171|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 6 0 9 0 37 11 37 11 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092642 19 19979369 C CT 420 PASS ZNF90 CCDS42532.1 r.? - - Ins intronic I 19979369 19979378 1 14 375.076 - - 8 1 1 ZNF90|CCDS42532.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF90|CCDS42532.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 15 18 0 0 ./. 1 6 1 7 3 25 3 25 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092657 19 20080933 T TA 420 PASS ZNF90 ENST00000427401 r.? - - Ins intronic I 20080933 20080941 1 20 375.678 - - 7 1 1 ZNF90|ENST00000427401|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF90|ENST00000427401|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 4 3 4 9 21 9 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092763 19 20288744 CT C 480 PASS ZNF90 CCDS46029.1 r.? - - Del intronic D 20288744 20288754 1 24 433.561 - - 9 1 1 ZNF90|CCDS46029.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF90|CCDS46029.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 5 3 5 30 27 30 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760092859 19 20676779 CA C 287 PASS - - - - - Del - D 20676779 20676787 1 30 488.433 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 4 5 4 33 33 33 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760093282 19 21507044 CA C 269 PASS ZNF708 CCDS32980.1 r.? - - Del intronic D 21507044 21507054 1 12 265.331 - - 9 1 1 ZNF708|CCDS32980.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF708|CCDS32980.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 2 5 3 23 24 23 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760093291 19 21524202 GT G 411 PASS - - - - - Del - D 21524202 21524208 1 20 379.29 - - 5 1 1 - - ./. 0 0 0 0 14 14 19 14 0 0 ./. 4 3 7 4 30 23 35 23 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760093349 19 21650915 GC G 480 PASS AC010615.1 ENST00000504832 r.? - - Del upstream D 21650915 21650924 1 21 433.561 - - 8 1 1 AC010615.1|ENST00000504832|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 AC010615.1|ENST00000504832|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 2 7 2 22 21 22 21 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760093363 19 21672039 A AT 360 PASS - - - - - Ins - I 21672039 21672049 1 15 318.397 - - 9 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 4 2 7 6 34 32 36 32 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760093639 19 22025330 GA G 269 PASS ZNF43 ENST00000397148 r.? - - Del intronic D 22025330 22025338 1 12 270.75 - - 7 1 1 ZNF43|ENST00000397148|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF43|ENST00000397148|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 3 4 27 17 27 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760093640 19 22027283 CA C 300 PASS ZNF43 ENST00000397148 r.? - - Del intronic D 22027283 22027293 1 12 271.352 - - 9 1 1 ZNF43|ENST00000397148|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF43|ENST00000397148|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 13 2 13 0 0 ./. 2 3 2 5 20 25 20 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760093675 19 22125933 GA G 300 PASS - - - - - Del - D 22125933 22125941 1 12 271.352 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 2 3 4 14 31 14 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760093977 19 22777084 AC A 300 PASS ENSG00000235276 ENST00000421840 r.? - - Del upstream D 22777084 22777086 1 12 267.137 - - 1 1 1 ENSG00000235276|ENST00000421840|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000235276|ENST00000421840|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 5 12 5 12 0 0 ./. 2 3 2 3 4 11 4 11 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094129 19 23129923 AT A 360 PASS - - - - - Del - D 23129923 23129930 1 15 325.02 - - 6 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 2 5 5 20 32 20 32 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094142 19 23153749 AG A 480 PASS - - - - - Del - D 23153749 23153751 1 25 431.754 - - 1 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 4 4 4 16 21 16 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094169 19 23189967 TC T 300 PASS - - - - - Del - D 23189967 23189969 1 10 269.546 - - 1 1 - - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 1 4 4 5 25 41 25 41 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094239 19 23335708 AT A 300 PASS ZNF730 ENST00000327867 r.? - - Del downstream D 23335708 23335718 1 12 271.352 - - 9 1 1 ZNF730|ENST00000327867|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF730|ENST00000327867|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 18 9 18 9 0 0 ./. 3 2 4 3 20 21 20 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094276 19 23414544 CT C 300 PASS ZNF724P ENST00000418100 r.? - - Del intronic D 23414544 23414554 1 12 270.148 - - 9 1 1 ZNF724P|ENST00000418100|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF724P|ENST00000418100|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 2 6 2 19 2 19 2 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094313 19 23478524 C CT 360 PASS - - - - - Ins - I 23478524 23478532 1 15 320.806 - - 7 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 2 4 3 17 25 17 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094483 19 23828278 AT A 598 PASS - - - - - Del - D 23828278 23828288 1 30 595.168 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 9 5 9 20 28 20 28 5 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094489 19 23831812 GA G 480 PASS ZNF675 CCDS32981.1 r.? - - Del downstream D 23831812 23831820 1 16 434.163 - - 7 1 1 ZNF675|CCDS32981.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF675|CCDS32981.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 7 16 7 0 0 ./. 7 1 11 4 25 26 25 26 11 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094561 19 23902803 AT A 269 PASS - - - - - Del - D 23902803 23902806 1 10 270.75 - - 2 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 1 4 2 23 24 23 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094734 19 24103158 CT C 300 PASS ZNF726 ENST00000322487 r.? - - Del intronic D 24103158 24103168 1 12 271.352 - - 9 1 1 ZNF726|ENST00000322487|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF726|ENST00000322487|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 16 22 16 0 0 ./. 3 2 3 4 17 26 17 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094746 19 24123308 GT G 480 PASS AC011503.1 ENST00000300996 r.? - - Del intronic D 24123308 24123317 1 21 428.744 - - 8 1 1 AC011503.1|ENST00000300996|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC011503.1|ENST00000300996|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 6 2 6 2 21 21 21 21 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094766 19 24207907 G GT 360 PASS - - - - - Ins - I 24207907 24207915 1 7 322.01 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 0 6 0 26 8 26 8 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094820 19 24318637 CT C 569 PASS - - - - - Del - D 24318637 24318647 1 35 542.703 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 6 4 10 27 23 27 23 4 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094837 19 24402884 CT C 360 PASS - - - - - Del - D 24402884 24402893 1 15 325.622 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 2 6 3 39 28 39 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760094842 19 24422918 CA C 300 PASS - - - - - Del - D 24422918 24422928 1 12 271.352 - - 9 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 2 5 3 31 24 31 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760095143 19 28188805 CT C 337 PASS - - - - - Del - D 28188805 28188815 1 16 324.418 - - 9 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 3 4 4 21 29 21 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760095158 19 28258106 TG T 300 PASS - - - - - Del - D 28258106 28258111 1 10 271.352 - - 4 1 1 - - ./. 0 0 0 0 14 5 14 5 0 0 ./. 4 1 4 1 17 15 17 15 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760095235 19 28461266 AT A 300 PASS - - - - - Del - D 28461266 28461276 1 12 271.352 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 4 2 19 21 19 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760095294 19 28654994 GT G 540 PASS - - - - - Del - D 28654994 28655004 1 24 487.831 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 7 2 8 2 23 21 23 21 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760095348 19 28808063 CCT C 509 PASS - - - - - Del - D 28808063 28808074 2 28 487.229 - - 5 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 6 5 7 38 28 38 28 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760095376 19 28877619 CAG C 443 PASS - - - - - Del - D 28877619 28877634 2 25 431.755 - - 7 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 4 4 5 6 27 38 27 38 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760095522 19 29273981 GT G 300 PASS - - - - - Del - D 29273981 29273987 1 10 271.352 - - 5 1 1 - - ./. 0 0 0 0 13 3 13 3 0 0 ./. 4 1 4 2 17 15 17 15 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760095597 19 29457226 C CA 300 PASS - - - - - Ins - I 29457226 29457236 1 10 268.341 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 1 6 3 32 22 32 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760095646 19 29632171 CT C 300 PASS - - - - - Del - D 29632171 29632180 1 12 271.352 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 3 2 27 25 27 25 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760095872 19 30239918 C CA 460 PASS - - - - - Ins - I 30239918 30239919 1 28 478.198 - - 0 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 3 8 4 25 25 25 25 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760095962 19 30417258 C CT 360 PASS - - - - - Ins - I 30417258 30417264 1 15 320.204 - - 5 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 2 5 3 31 20 31 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760096128 19 30844433 GC G 300 PASS - - - - - Del - D 30844433 30844442 1 12 271.352 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 4 2 21 15 21 15 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760096203 19 31099240 AT A 360 PASS - - - - - Del - D 31099240 31099250 1 16 325.622 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 4 4 32 23 32 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760096234 19 31182653 GA G 540 PASS - - - - - Del - D 31182653 31182663 1 28 488.433 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 3 6 3 28 25 28 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760096298 19 31418477 G GT 480 PASS - - - - - Ins - I 31418477 31418480 1 24 423.928 - - 2 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 5 5 6 36 22 36 22 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760096328 19 31528810 C CT 300 PASS - - - - - Ins - I 31528810 31528820 1 12 265.933 - - 9 1 1 - - ./. 0 0 0 0 9 23 9 23 0 0 ./. 3 2 4 4 14 34 14 34 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760096528 19 32292002 G GA 420 PASS - - - - - Ins - I 32292002 32292009 1 20 375.678 - - 6 1 1 - - ./. 0 0 0 0 18 14 19 14 0 0 ./. 3 4 5 4 25 17 25 17 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760096544 19 32394883 G GT 360 PASS - - - - - Ins - I 32394883 32394889 1 16 322.01 - - 5 1 1 - - ./. 0 0 0 0 7 14 7 15 0 0 ./. 3 3 5 5 29 34 29 34 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760096826 19 33134672 CT C 360 PASS ANKRD27 CCDS32986.1 r.? - - Del intronic D 33134672 33134682 1 15 325.622 - - 9 1 1 ANKRD27|CCDS32986.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD27|CCDS32986.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 4 4 6 32 41 32 41 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760096940 19 33378132 GT G 300 PASS CCDC123 CCDS32987.1 r.? - - Del intronic D 33378132 33378142 1 12 271.352 - - 9 1 1 CCDC123|CCDS32987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC123|CCDS32987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 3 5 4 22 18 22 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760097007 19 33502012 CT C 360 PASS RHPN2 CCDS12427.1 r.? - - Del intronic D 33502012 33502020 1 15 325.622 - - 7 1 1 RHPN2|CCDS12427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RHPN2|CCDS12427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 2 6 4 23 24 23 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760097044 19 33565957 TA T 420 PASS - - - - - Del - D 33565957 33565967 1 14 378.688 - - 9 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 1 6 5 9 29 21 29 21 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760097184 19 33884490 CG C 449 PASS PEPD CCDS42544.1 r.? - - Del intronic D 33884490 33884497 1 24 425.734 - - 6 1 1 PEPD|CCDS42544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PEPD|CCDS42544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 5 3 5 5 28 18 28 18 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760097229 19 34064288 T TA 420 PASS - - - - - Ins - I 34064288 34064295 1 18 375.678 - - 6 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 2 6 3 19 23 19 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760097422 19 34599251 GA G 420 PASS - - - - - Del - D 34599251 34599261 1 18 379.892 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 2 6 2 31 19 31 19 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760097463 19 34687877 AT A 360 PASS LSM14A CCDS46040.1 r.? - - Del intronic D 34687877 34687887 1 16 325.622 - - 9 1 1 LSM14A|CCDS46040.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LSM14A|CCDS46040.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 3 4 4 33 16 33 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760097498 19 34758270 AT A 360 PASS KIAA0355 CCDS12436.1 r.? - - Del intronic D 34758270 34758280 1 15 325.622 - - 9 1 1 KIAA0355|CCDS12436.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA0355|CCDS12436.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 4 3 5 13 27 13 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760097604 19 34986137 C CA 300 PASS WTIP ENST00000270288 r.? - - Ins intronic I 34986137 34986146 1 6 267.137 - - 8 1 1 WTIP|ENST00000270288|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WTIP|ENST00000270288|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 0 5 3 5 33 39 33 40 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760097715 19 35343097 CT C 297 PASS - - - - - Del - D 35343097 35343107 1 12 270.75 - - 9 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 3 4 15 18 15 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760098003 19 36008290 CA C 300 PASS DMKN CCDS12463.1 r.? - - Del upstream D 36008290 36008298 1 12 271.352 - - 7 1 1 DMKN|CCDS12463.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 DMKN|CCDS12463.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 3 3 3 16 32 16 32 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760098251 19 36617321 CA C 300 PASS TBCB CCDS12488.1 r.? - - Del downstream D 36617321 36617331 1 10 271.352 - - 9 1 1 TBCB|CCDS12488.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 TBCB|CCDS12488.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 11 5 11 5 0 0 ./. 1 4 3 6 19 26 19 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760098282 19 36678706 A AT 420 PASS ZNF565 CCDS12491.1 r.? - - Ins intronic I 36678706 36678713 1 14 375.678 - - 6 1 1 ZNF565|CCDS12491.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF565|CCDS12491.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 2 13 3 13 0 0 ./. 1 6 2 8 3 27 3 28 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760098575 19 37210374 G GA 360 PASS ZNF567 CCDS12495.1 r.837_838insa c.655_656insA p.H222fs*5 Ins frameshift I 37210374 37210383 1 15 322.01 - - 8 1 1 ZNF567|CCDS12495.1|r.837_838insa|c.655_656insA|p.H222fs*5|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ZNF567|CCDS12495.1|r.837_838insa|c.655_656insA|p.H222fs*5|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 2 4 2 23 19 23 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760098684 19 37521902 GC G 420 PASS - - - - - Del - D 37521902 37521910 1 18 379.892 - - 7 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 5 5 5 37 28 37 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760098691 19 37566351 AAG A 300 PASS ZNF420 CCDS12498.1 r.? - - Del upstream D 37566351 37566364 2 10 271.352 - - 6 1 1 ZNF420|CCDS12498.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZNF420|CCDS12498.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 1 5 1 12 4 12 4 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760098722 19 37681472 G GT 300 PASS ENSG00000245680 ENST00000501522 r.? - - Ins intronic I 37681472 37681481 1 10 267.739 - - 8 1 - ENSG00000245680|ENST00000501522|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000245680|ENST00000501522|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 10 26 11 0 0 ./. 1 4 4 5 29 23 29 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760098736 19 37719164 GT G 360 PASS ZNF383 CCDS12501.1 r.? - - Del intronic D 37719164 37719171 1 7 325.622 - - 6 1 1 ZNF383|CCDS12501.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF383|CCDS12501.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 0 6 0 6 0 29 0 29 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760098809 19 37936336 CT C 420 PASS ZNF569 CCDS12503.1 r.? - - Del intronic D 37936336 37936341 1 20 379.892 - - 4 1 1 ZNF569|CCDS12503.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF569|CCDS12503.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 3 5 3 25 33 25 33 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760098882 19 38137673 GT G 480 PASS ZFP30 CCDS33005.1 r.? - - Del intronic D 38137673 38137681 1 24 434.163 - - 7 1 - ZFP30|CCDS33005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFP30|CCDS33005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 5 3 7 13 17 13 17 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760098952 19 38277254 TA T 540 PASS ZNF573 ENST00000392138 r.? - - Del intronic D 38277254 38277264 1 30 488.433 - - 9 1 1 ZNF573|ENST00000392138|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF573|ENST00000392138|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 5 7 6 34 21 34 21 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760099176 19 38797330 AT A 300 PASS YIF1B CCDS12512.1 r.? - - Del intronic D 38797330 38797340 1 6 271.352 - - 9 1 1 YIF1B|CCDS12512.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 YIF1B|CCDS12512.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 0 5 4 7 35 23 35 23 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760099227 19 38921420 TG T 300 PASS RYR1 CCDS33011.1 r.? - - Del upstream D 38921420 38921426 1 6 271.352 - - 5 1 1 RYR1|CCDS33011.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RYR1|CCDS33011.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 0 5 0 19 16 19 16 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760099311 19 39099273 TA T 540 PASS MAP4K1 CCDS42564.1 r.? - - Del intronic D 39099273 39099283 1 24 488.433 - - 9 1 1 MAP4K1|CCDS42564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP4K1|CCDS42564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 7 5 8 20 30 20 30 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760099343 19 39217948 A AG 540 PASS ACTN4 CCDS12518.1 r.? - - Ins intronic I 39217948 39217954 1 30 480.004 - - 5 1 1 ACTN4|CCDS12518.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACTN4|CCDS12518.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 4 5 4 6 22 35 22 35 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760099392 19 39308327 G GA 480 PASS LGALS4 CCDS12521.1 r.? - - Ins upstream I 39308327 39308336 1 24 428.142 - - 8 1 1 LGALS4|CCDS12521.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ECH1|CCDS33014.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 13 8 13 0 0 ./. 3 5 4 6 21 35 21 36 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760099407 19 39343653 AC A 360 PASS HNRNPL CCDS33015.1 r.? - - Del upstream D 39343653 39343659 1 16 325.622 - - 5 1 1 HNRNPL|CCDS33015.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HNRNPL|CCDS33015.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 8 16 8 0 0 ./. 3 3 6 4 38 34 38 34 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760099412 19 39349664 TTG T 269 PASS - - - - - Del - D 39349664 39349680 2 12 270.75 - - 7 1 - - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 4 3 31 32 31 32 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760099789 19 40043195 CT C 600 PASS - - - - - Del - D 40043195 40043204 1 27 542.703 - - 8 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 8 2 9 21 38 21 38 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760100167 19 41076368 T TC 300 PASS SPTBN4 CCDS12559.1 r.7155_7156insc c.7053_7054insC p.G2354fs*8 Ins frameshift I 41076368 41076374 1 12 268.341 - - 5 1 1 SPTBN4|CCDS12559.1|r.7155_7156insc|c.7053_7054insC|p.G2354fs*8|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 SPTBN4|CCDS12559.1|r.7155_7156insc|c.7053_7054insC|p.G2354fs*8|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 11 5 11 5 0 0 ./. 3 2 4 3 26 24 26 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760100190 19 41124903 GT G 540 PASS LTBP4 ENST00000308370 r.? - - Del intronic D 41124903 41124913 1 30 488.433 - - 9 1 1 LTBP4|ENST00000308370|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LTBP4|ENST00000308370|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 5 6 9 22 33 22 33 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760100407 19 41583071 CT C 600 PASS - - - - - Del - D 41583071 41583080 1 32 542.101 - - 8 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 7 3 9 7 38 29 38 29 9 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760100502 19 41760817 T TA 360 PASS AXL CCDS12575.1 r.? - - Ins intronic I 41760817 41760827 1 15 320.806 - - 9 1 1 AXL|CCDS12575.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AXL|CCDS12575.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 2 5 3 26 27 26 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760100527 19 41808817 AG A 300 PASS HNRNPUL1 CCDS12576.1 r.2225delG c.1936delG p.G647fs*268 Del frameshift D 41808817 41808823 1 10 271.352 - - 5 1 1 HNRNPUL1|CCDS12576.1|r.2225delG|c.1936delG|p.G647fs*268|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 HNRNPUL1|CCDS12576.1|r.2225delG|c.1936delG|p.G647fs*268|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 4 9 4 0 0 ./. 4 1 5 3 23 24 23 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760100760 19 42562047 C CA 420 PASS GRIK5 CCDS12595.1 r.? - - Ins intronic I 42562047 42562050 1 20 372.668 - - 2 1 1 GRIK5|CCDS12595.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRIK5|CCDS12595.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 4 3 4 20 30 20 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760101025 19 43549116 GT G 269 PASS PSG1 ENST00000449000 r.? - - Del intronic D 43549116 43549126 1 12 268.943 - - 9 1 1 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 3 2 5 4 11 7 11 7 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760101050 19 43660653 AT A 269 PASS PSG1 ENST00000449000 r.? - - Del intronic D 43660653 43660662 1 10 271.352 - - 8 1 1 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 7 3 7 0 0 ./. 4 1 6 5 16 12 16 12 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760101490 19 44728163 AT A 312 PASS ZNF227 CCDS12636.1 r.? - - Del intronic D 44728163 44728168 1 18 379.892 - - 4 1 1 ZNF227|CCDS12636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF227|CCDS12636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 5 3 5 29 26 29 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760101520 19 44803173 A AT 420 PASS ZNF235 CCDS33048.1 r.? - - Ins intronic I 44803173 44803183 1 14 375.678 - - 9 1 1 ZNF235|CCDS33048.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF235|CCDS33048.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 6 1 7 3 24 18 24 18 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760101577 19 44943636 CT C 540 PASS ZNF229 CCDS42574.1 r.? - - Del intronic D 44943636 44943645 1 30 488.433 - - 8 1 1 ZNF229|CCDS42574.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF229|CCDS42574.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 4 7 5 30 28 30 28 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760101714 19 45188344 GC G 420 PASS CEACAM19 CCDS46108.1 r.? - - Del downstream D 45188344 45188351 1 20 378.086 - - 6 1 1 CEACAM19|CCDS46108.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CEACAM19|CCDS46108.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 4 4 6 28 30 28 30 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760101765 19 45292499 ACTGT A 418 PASS CBLC CCDS12643.1 r.? - - Del intronic D 45292499 45292508 4 24 432.357 - - 2 1 1 CBLC|CCDS12643.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CBLC|CCDS12643.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 16 4 16 0 0 ./. 3 5 3 5 28 29 28 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760101858 19 45470088 ATC A 360 PASS CLPTM1 CCDS12651.1 r.? - - Del intronic D 45470088 45470108 2 16 325.622 - - 9 1 1 CLPTM1|CCDS12651.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLPTM1|CCDS12651.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 3 3 3 3 26 27 26 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760101992 19 45812330 CA C 300 PASS MARK4 CCDS12658.1 r.? - - Del downstream D 45812330 45812340 1 12 271.352 - - 9 1 1 MARK4|CCDS12658.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CKM|CCDS12659.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 2 3 3 5 22 29 22 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760102091 19 45987058 G GT 360 PASS RTN2 CCDS12665.1 r.? - - Ins downstream I 45987058 45987065 1 15 322.01 - - 6 1 - RTN2|CCDS12665.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 PPM1N|ENST00000401705|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 17 7 17 7 0 0 ./. 2 4 2 4 25 33 25 35 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760102276 19 46309101 A AT 480 PASS RSPH6A CCDS12675.1 r.? - - Ins intronic I 46309101 46309107 1 24 429.346 - - 5 1 1 RSPH6A|CCDS12675.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RSPH6A|CCDS12675.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 5 3 6 4 24 22 24 22 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760102316 19 46390943 TA T 480 PASS IRF2BP1 CCDS12678.1 r.? - - Del upstream D 46390943 46390952 1 24 434.163 - - 8 1 1 IRF2BP1|CCDS12678.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 IRF2BP1|CCDS12678.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 3 6 5 29 10 29 10 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760102449 19 46757740 TA T 480 PASS - - - - - Del - D 46757740 46757749 1 25 431.754 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 4 5 6 31 31 31 31 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760102615 19 47015096 TTG T 269 PASS - - - - - Del - D 47015096 47015116 2 10 268.341 - - 9 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 4 3 5 28 28 28 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760102659 19 47119068 AT A 360 PASS PTGIR CCDS12686.1 r.? - - Del downstream D 47119068 47119078 1 15 325.622 - - 9 1 1 PTGIR|CCDS12686.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PTGIR|CCDS12686.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 2 5 3 27 27 27 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760102730 19 47274388 AG A 420 PASS SLC1A5 CCDS12692.1 r.? - - Del downstream D 47274388 47274394 1 18 370.862 - - 5 1 1 SLC1A5|CCDS12692.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SLC1A5|CCDS12692.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 4 16 4 16 0 0 ./. 2 5 4 7 34 28 34 28 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760102757 19 47323116 CA C 360 PASS - - - - - Del - D 47323116 47323126 1 15 323.816 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 4 2 4 18 19 18 19 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760102786 19 47366924 TC T 300 PASS - - - - - Del - D 47366924 47366932 1 12 262.321 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 4 5 22 22 22 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760102796 19 47385509 AC A 420 PASS - - - - - Del - D 47385509 47385517 1 8 378.086 - - 7 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 0 7 0 8 6 37 6 37 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760103035 19 47831890 G GT 300 PASS - - - - - Ins - I 47831890 47831898 1 6 268.341 - - 7 1 1 - - ./. 0 0 0 0 15 4 15 4 0 0 ./. 5 0 6 0 27 18 28 19 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760103692 19 49138981 CG C 300 PASS DBP CCDS12728.1 r.793delC c.405delC p.G136fs*50 Del frameshift D 49138981 49138988 1 12 271.352 - - 6 1 1 DBP|CCDS12728.1|r.793delC|c.405delC|p.G136fs*50|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 DBP|CCDS12728.1|r.793delC|c.405delC|p.G136fs*50|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 3 6 21 31 21 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760103868 19 49489041 GC G 420 PASS GYS1 CCDS12747.1 r.? - - Del intronic D 49489041 49489048 1 14 378.086 - - 6 1 1 GYS1|CCDS12747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GYS1|CCDS12747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 1 6 6 8 31 27 31 27 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760103966 19 49662743 G GT 300 PASS TRPM4 CCDS33073.1 r.? - - Ins intronic I 49662743 49662750 1 12 267.739 - - 6 1 1 TRPM4|CCDS33073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRPM4|CCDS33073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 13 14 0 0 ./. 2 3 3 3 25 32 25 32 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760103978 19 49686204 GC G 300 PASS TRPM4 CCDS33073.1 r.? - - Del intronic D 49686204 49686212 1 12 269.546 - - 7 1 1 TRPM4|CCDS33073.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPM4|CCDS33073.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 3 2 4 3 31 26 31 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760103985 19 49699775 CG C 300 PASS TRPM4 CCDS33073.1 r.2362delG c.2290delG p.R766fs*15 Del frameshift D 49699775 49699782 1 12 271.352 - - 6 1 1 TRPM4|CCDS33073.1|r.2362delG|c.2290delG|p.R766fs*15|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 TRPM4|CCDS33073.1|r.2362delG|c.2290delG|p.R766fs*15|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 2 3 3 28 31 28 31 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760104064 19 49850472 T TG 480 PASS TEAD2 CCDS12761.1 r.974_975insc c.883_884insC p.H295fs*19 Ins frameshift I 49850472 49850481 1 25 419.111 - - 8 1 1 TEAD2|CCDS12761.1|r.974_975insc|c.883_884insC|p.H295fs*19|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 TEAD2|CCDS12761.1|r.974_975insc|c.883_884insC|p.H295fs*19|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 6 16 6 16 0 0 ./. 4 4 4 5 32 31 33 31 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760104145 19 50006524 C CA 360 PASS ENSG00000142534 CCDS12769.1 r.? - - Ins downstream I 50006524 50006534 1 16 318.999 - - 9 1 1 ENSG00000142534|CCDS12769.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MIR150|ENST00000385048|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 3 5 6 26 31 27 32 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760104215 19 50138393 C CT 420 PASS RRAS CCDS12774.1 r.? - - Ins downstream I 50138393 50138403 1 14 375.678 - - 9 1 1 RRAS|CCDS12774.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 RRAS|CCDS12774.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 6 1 8 20 31 21 31 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760104217 19 50149954 AC A 360 PASS SCAF1 CCDS33074.1 r.? - - Del intronic D 50149954 50149959 1 15 325.622 - - 4 1 1 SCAF1|CCDS33074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCAF1|CCDS33074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 2 5 3 36 21 36 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760104285 19 50362507 T TG 360 PASS PTOV1 CCDS12782.1 r.? - - Ins intronic I 50362507 50362516 1 16 318.999 - - 8 1 1 PTOV1|CCDS12782.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTOV1|CCDS12782.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 3 3 3 4 21 36 21 36 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760104604 19 51162875 A AT 300 PASS SHANK1 CCDS12799.1 r.? - - Ins downstream I 51162875 51162883 1 12 267.137 - - 7 1 1 SHANK1|CCDS12799.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SHANK1|CCDS12799.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 2 21 2 22 0 0 ./. 3 2 3 5 13 31 13 32 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760104671 19 51335242 GA G 329 PASS KLK15 CCDS12805.1 r.? - - Del upstream D 51335242 51335246 1 15 323.214 - - 3 1 1 KLK15|CCDS12805.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KLK15|CCDS12805.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 4 5 5 15 18 15 18 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760104714 19 51445581 AC A 329 PASS KLK5 CCDS12810.1 r.? - - Del downstream D 51445581 51445590 1 12 325.622 - - 8 1 1 KLK5|CCDS12810.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KLK5|CCDS12810.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 4 9 4 0 0 ./. 1 5 1 5 26 18 26 18 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760104805 19 51716350 CA C 300 PASS - - - - - Del - D 51716350 51716355 1 10 270.148 - - 4 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 1 4 1 5 21 29 21 29 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760104940 19 52085988 CT C 269 PASS ZNF175 CCDS12837.1 r.? - - Del intronic D 52085988 52085997 1 10 271.352 - - 8 1 1 ZNF175|CCDS12837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF175|CCDS12837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 1 4 1 6 26 30 26 30 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760105082 19 52489415 AC A 360 PASS ZNF615 CCDS12845.1 r.? - - Del intronic D 52489415 52489422 1 12 325.622 - - 6 1 1 ZNF615|CCDS12845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF615|CCDS12845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 1 7 1 25 8 25 8 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760105170 19 52850946 AT A 389 PASS ZNF610 CCDS12851.1 r.? - - Del intronic D 52850946 52850956 1 18 379.892 - - 9 1 1 ZNF610|CCDS12851.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF610|CCDS12851.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 5 2 7 30 31 30 31 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760105328 19 53094095 TTTTG T 300 PASS - - - - - Del - D 53094095 53094111 4 6 271.352 - - 3 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 0 5 0 6 9 29 9 29 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760105431 19 53246184 CG C 420 PASS - - - - - Del - D 53246184 53246192 1 20 377.484 - - 7 1 1 - - ./. 0 0 0 0 9 2 9 2 0 0 ./. 4 3 5 4 24 21 24 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760105433 19 53254315 C CG 360 PASS - - - - - Ins - I 53254315 53254323 1 15 314.183 - - 7 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 4 3 4 23 29 25 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760105926 19 54179546 TA T 480 PASS MIR498 ENST00000385134 r.? - - Del downstream D 54179546 54179556 1 16 431.152 - - 9 1 1 MIR498|ENST00000385134|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 MIR519E|ENST00000385075|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 6 11 6 11 0 0 ./. 1 7 2 10 28 28 28 28 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760105935 19 54198646 GT G 420 PASS MIR523 ENST00000385281 r.? - - Del upstream D 54198646 54198656 1 14 379.892 - - 9 1 1 MIR523|ENST00000385281|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 MIR523|ENST00000385281|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 6 4 7 15 37 15 37 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760105947 19 54215508 CA C 480 PASS MIR518C ENST00000384822 r.? - - Del downstream D 54215508 54215517 1 25 434.163 - - 8 1 1 MIR518C|ENST00000384822|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 MIR519D|ENST00000385246|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 4 5 4 34 25 34 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106015 19 54328871 CT C 300 PASS NLRP12 CCDS12864.1 r.? - - Del upstream D 54328871 54328880 1 10 271.352 - - 8 1 1 NLRP12|CCDS12864.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 NLRP12|CCDS12864.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 4 9 4 0 0 ./. 4 1 5 3 38 27 38 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106162 19 54615361 TA T 300 PASS PRPF31 CCDS12879.1 r.? - - Del upstream D 54615361 54615371 1 12 271.352 - - 9 1 1 PRPF31|CCDS12879.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TFPT|CCDS12878.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 5 19 5 0 0 ./. 2 3 4 4 26 26 26 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106172 19 54640283 C CA 480 PASS CNOT3 CCDS12880.1 r.? - - Ins upstream I 54640283 54640289 1 25 425.132 - - 5 1 1 CNOT3|CCDS12880.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CNOT3|CCDS12880.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 20 14 20 14 0 0 ./. 4 4 4 5 32 24 32 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106250 19 54799396 AT A 480 PASS LILRA3 CCDS12887.1 r.? - - Del downstream D 54799396 54799406 1 21 434.163 - - 9 1 1 LILRA3|CCDS12887.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 LILRA3|ENST00000251375|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 6 2 8 18 23 18 23 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106251 19 54804855 CCT C 360 PASS LILRA3 CCDS12887.1 r.? - - Del upstream D 54804855 54804858 2 16 325.622 - - 1 1 1 LILRA3|CCDS12887.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 LILRA3|ENST00000391745|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 3 3 3 21 29 21 29 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106338 19 54972410 TTC T 300 PASS LENG8 CCDS12894.1 r.3185_3186delUC c.? p.? Del 3'UTR variant D 54972410 54972424 2 10 269.546 - - 6 1 1 LENG8|CCDS12894.1|r.3185_3186delUC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 LENG8|ENST00000421200|r.113_114delUC|c.113_114delTC|p.L42fs*81|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 11 7 11 0 0 ./. 1 4 1 6 15 28 15 28 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106388 19 55049765 AT A 300 PASS KIR3DX1 ENST00000335056 r.? - - Del intronic D 55049765 55049771 1 12 270.75 - - 5 1 1 KIR3DX1|ENST00000335056|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIR3DX1|ENST00000335056|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 2 4 2 24 16 24 16 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106418 19 55161596 AT A 420 PASS LILRB4 ENST00000420271 r.? - - Del intronic D 55161596 55161605 1 18 378.688 - - 8 1 1 LILRB4|ENST00000420271|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LILRB4|ENST00000420271|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 5 2 7 23 28 23 28 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106420 19 55170854 TA T 480 PASS LILRB4 CCDS12902.1 r.? - - Del upstream D 55170854 55170864 1 21 434.163 - - 9 1 1 LILRB4|CCDS12902.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LILRB4|ENST00000420271|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 6 2 7 17 22 17 22 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106761 19 55614619 TA T 300 PASS PPP1R12C CCDS12916.1 r.? - - Del intronic D 55614619 55614628 1 6 269.546 - - 8 1 1 PPP1R12C|CCDS12916.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R12C|CCDS12916.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 0 6 0 21 18 21 18 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106851 19 55855915 ATCTT A 420 PASS SUV420H2 CCDS12922.1 r.? - - Del intronic D 55855915 55855924 4 18 379.892 - - 2 1 1 SUV420H2|CCDS12922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUV420H2|CCDS12922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 5 2 5 13 25 13 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106960 19 56077195 AG A 360 PASS - - - - - Del - D 56077195 56077202 1 15 325.02 - - 6 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 2 5 2 27 15 27 15 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106970 19 56110254 AC A 420 PASS FIZ1 CCDS12928.1 r.? - - Del intronic D 56110254 56110261 1 20 379.892 - - 6 1 1 FIZ1|CCDS12928.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FIZ1|CCDS12928.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 3 4 4 17 26 17 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760106990 19 56166989 TG T 300 PASS U2AF2 CCDS12933.1 r.? - - Del intronic D 56166989 56166997 1 12 270.75 - - 7 1 1 U2AF2|CCDS12933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 U2AF2|CCDS12933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 2 3 4 3 25 21 25 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760107120 19 56481501 CA C 420 PASS NLRP8 CCDS12937.1 r.? - - Del intronic D 56481501 56481507 1 20 379.892 - - 5 1 1 NLRP8|CCDS12937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NLRP8|CCDS12937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 4 3 5 19 27 19 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760107211 19 56641072 CA C 315 PASS - - - - - Del - D 56641072 56641080 1 16 325.622 - - 7 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 3 4 6 29 25 29 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760107245 19 56721740 TG T 360 PASS ZSCAN5C ENST00000376267 r.? - - Del downstream D 56721740 56721749 1 15 314.785 - - 8 1 1 ZSCAN5C|ENST00000376267|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZSCAN5C|ENST00000376267|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 4 10 4 10 0 0 ./. 2 4 3 5 26 18 26 18 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760107330 19 56958959 TA T 360 PASS ZNF667 CCDS12944.1 r.? - - Del intronic D 56958959 56958969 1 15 325.622 - - 9 1 1 ZNF667|CCDS12944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF667|CCDS12944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 2 7 2 26 22 26 22 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760107375 19 57061633 AG A 480 PASS ZFP28 CCDS12946.1 r.? - - Del intronic D 57061633 57061639 1 24 429.948 - - 5 1 1 ZFP28|CCDS12946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFP28|CCDS12946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 3 7 4 30 31 30 31 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760107615 19 57624186 GT G 600 PASS - - - - - Del - D 57624186 57624195 1 27 542.703 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 8 2 9 4 31 22 31 22 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760107671 19 57771527 G GAC 300 PASS ZNF805 CCDS46207.1 r.7547_7548insac c.? p.? Ins 3'UTR variant I 57771527 57771540 2 12 265.331 - - 6 1 1 ZNF805|CCDS46207.1|r.7547_7548insac|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ZNF805|CCDS46207.1|r.7547_7548insac|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 4 3 37 23 39 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760107716 19 57855345 G GA 300 PASS - - - - - Ins - I 57855345 57855352 1 6 268.341 - - 6 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 0 5 0 5 15 26 15 26 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760107731 19 57926022 AG A 300 PASS ZNF17 CCDS42636.1 r.? - - Del intronic D 57926022 57926029 1 12 271.352 - - 6 1 1 ZNF17|CCDS42636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF17|CCDS42636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 3 3 6 21 30 21 30 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760107789 19 58065545 CA C 780 PASS ENSG00000251369 ENST00000506609 r.? - - Del intronic D 58065545 58065555 1 56 705.515 - - 9 1 1 ENSG00000251369|ENST00000506609|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000251369|ENST00000506609|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 7 6 7 6 35 30 35 30 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760107949 19 58450044 CA C 780 PASS ZNF418 CCDS42642.1 r.? - - Del upstream D 58450044 58450054 1 56 704.912 - - 9 1 1 ZNF418|CCDS42642.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AC010326.3|ENST00000501768|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 6 7 6 9 31 30 31 30 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760108277 2 43829 CT C 540 PASS FAM110C CCDS42645.1 r.? - - Del intronic D 43829 43838 1 28 483.951 - - 8 1 1 FAM110C|CCDS42645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM110C|CCDS42645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 3 7 3 33 18 33 18 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760108458 2 660688 C CA 360 PASS - - - - - Ins - I 660688 660690 1 15 319.423 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 4 3 5 23 30 23 30 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760108687 2 1438881 AT A 277 PASS TPO CCDS1643.1 r.? - - Del intronic D 1438881 1438887 1 12 268.594 - - 5 1 1 TPO|CCDS1643.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TPO|CCDS1643.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 3 2 4 3 27 29 27 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760108768 2 1685479 AG A 509 PASS PXDN CCDS46221.1 r.? - - Del intronic D 1685479 1685485 1 30 484.553 - - 5 1 1 PXDN|CCDS46221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PXDN|CCDS46221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 5 5 5 22 23 22 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760108769 2 1688246 GA G 420 PASS PXDN CCDS46221.1 r.? - - Del intronic D 1688246 1688253 1 20 376.874 - - 6 1 1 PXDN|CCDS46221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PXDN|CCDS46221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 3 5 3 33 14 33 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760108870 2 2053936 CA C 540 PASS MYT1L CCDS46222.1 r.? - - Del intronic D 2053936 2053945 1 10 483.349 - - 8 1 1 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 9 0 10 0 34 3 34 3 10 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760108871 2 2079018 AT A 360 PASS MYT1L CCDS46222.1 r.? - - Del intronic D 2079018 2079024 1 15 323.035 - - 5 1 1 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 2 5 3 23 22 23 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760108910 2 2337335 TA T 300 PASS MYT1L CCDS46222.1 r.? - - Del upstream D 2337335 2337345 1 10 268.594 - - 9 1 1 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 4 1 5 6 24 6 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760109074 2 2972596 TA T 300 PASS - - - - - Del - D 2972596 2972603 1 10 267.992 - - 6 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 1 4 2 4 14 18 14 18 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760109320 2 3831928 CT C 300 PASS - - - - - Del - D 3831928 3831936 1 6 269.196 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 0 5 0 5 0 24 0 24 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760109501 2 4394687 TA T 300 PASS - - - - - Del - D 4394687 4394693 1 12 265.584 - - 5 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 3 4 25 21 25 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760109896 2 5715815 TC T 269 PASS - - - - - Del - D 5715815 5715818 1 6 269.196 - - 2 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 0 5 0 6 0 24 0 24 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760109983 2 5916073 CA C 360 PASS - - - - - Del - D 5916073 5916083 1 7 323.035 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 0 6 0 6 17 35 17 35 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760109986 2 5925831 TC T 300 PASS - - - - - Del - D 5925831 5925839 1 10 269.196 - - 7 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 1 5 2 35 30 35 30 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760110046 2 6182654 GA G 360 PASS - - - - - Del - D 6182654 6182664 1 12 323.035 - - 9 1 1 - - ./. 0 0 0 0 31 11 31 11 0 0 ./. 5 1 5 2 18 12 18 12 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760110073 2 6315487 CA C 600 PASS - - - - - Del - D 6315487 6315497 1 35 538.392 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 4 6 5 24 41 24 41 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760110099 2 6398740 GT G 420 PASS - - - - - Del - D 6398740 6398749 1 18 375.67 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 5 4 5 18 32 18 32 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760110140 2 6511941 C CT 420 PASS - - - - - Ins - I 6511941 6511948 1 18 372.058 - - 6 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 5 3 5 18 24 18 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760110253 2 6789232 CA C 300 PASS - - - - - Del - D 6789232 6789241 1 12 269.196 - - 8 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 2 3 4 38 27 38 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760110272 2 6849676 CT C 300 PASS - - - - - Del - D 6849676 6849686 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 3 2 5 15 38 15 38 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760110462 2 7550007 CA C 300 PASS ENSG00000234603 ENST00000441133 r.? - - Del intronic D 7550007 7550016 1 10 269.196 - - 8 1 1 ENSG00000234603|ENST00000441133|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000234603|ENST00000441133|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 4 3 4 21 29 21 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760110591 2 8058124 AG A 360 PASS - - - - - Del - D 8058124 8058132 1 15 323.035 - - 7 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 8 2 21 32 21 32 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760110625 2 8183194 CG C 300 PASS - - - - - Del - D 8183194 8183201 1 6 268.594 - - 6 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 0 5 1 7 25 28 25 28 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760110648 2 8245388 AT A 300 PASS - - - - - Del - D 8245388 8245394 1 10 269.196 - - 5 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 3 5 35 26 35 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760110755 2 8682515 GA G 300 PASS - - - - - Del - D 8682515 8682525 1 12 267.992 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 3 2 6 31 29 31 29 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760111004 2 9443650 GGA G 360 PASS ASAP2 CCDS1661.1 r.? - - Del intronic D 9443650 9443660 2 15 321.831 - - 4 1 1 ASAP2|CCDS1661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASAP2|CCDS1661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 2 5 3 30 25 30 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760111079 2 9635850 A AG 360 PASS ADAM17 CCDS1665.1 r.? - - Ins intronic I 9635850 9635851 1 15 317.015 - - 0 1 1 ADAM17|CCDS1665.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAM17|CCDS1665.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 2 10 2 10 0 0 ./. 2 4 2 6 14 20 14 20 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760111095 2 9668868 GA G 480 PASS ADAM17 CCDS1665.1 r.? - - Del intronic D 9668868 9668876 1 24 427.101 - - 7 1 1 ADAM17|CCDS1665.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM17|CCDS1665.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 3 6 5 43 33 43 33 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760111357 2 10228045 C CT 480 PASS ENSG00000233502 ENST00000425235 r.? - - Ins downstream I 10228045 10228053 1 21 425.897 - - 7 1 1 ENSG00000233502|ENST00000425235|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000233502|ENST00000425235|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 2 7 5 25 24 25 24 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760111393 2 10315725 AT A 300 PASS C2orf48 CCDS1670.1 r.? - - Del intronic D 10315725 10315730 1 12 269.196 - - 4 1 1 C2orf48|CCDS1670.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C2orf48|CCDS1670.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 4 2 17 17 17 17 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760111468 2 10472904 AG A 420 PASS HPCAL1 CCDS1671.1 r.? - - Del intronic D 10472904 10472912 1 18 376.874 - - 7 1 1 HPCAL1|CCDS1671.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HPCAL1|CCDS1671.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 5 4 6 25 22 25 22 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760111479 2 10508449 GGT G 360 PASS HPCAL1 CCDS1671.1 r.? - - Del intronic D 10508449 10508459 2 15 323.035 - - 4 1 - HPCAL1|CCDS1671.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HPCAL1|CCDS1671.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 2 4 4 15 25 15 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760111738 2 10969668 TG T 300 PASS PDIA6 ENST00000404371 r.? - - Del intronic D 10969668 10969675 1 6 269.196 - - 6 1 1 PDIA6|ENST00000404371|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PDIA6|ENST00000404371|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 5 0 6 0 15 23 15 23 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760111885 2 11402385 C CA 300 PASS ROCK2 CCDS42654.1 r.? - - Ins intronic I 11402385 11402393 1 12 266.186 - - 7 1 1 ROCK2|CCDS42654.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROCK2|CCDS42654.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 2 3 2 3 12 22 12 22 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760111897 2 11431601 AG A 300 PASS ROCK2 CCDS42654.1 r.? - - Del intronic D 11431601 11431607 1 12 256.553 - - 5 1 1 ROCK2|CCDS42654.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROCK2|CCDS42654.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 4 3 28 21 28 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760112061 2 11812956 AT A 300 PASS NTSR2 CCDS1681.1 r.? - - Del upstream D 11812956 11812962 1 12 269.196 - - 5 1 1 NTSR2|CCDS1681.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 NTSR2|CCDS1681.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 3 3 22 15 22 15 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760112133 2 12085638 A AT 480 PASS - - - - - Ins - I 12085638 12085644 1 21 424.693 - - 5 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 6 2 6 2 27 25 27 26 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760112279 2 12547394 AT A 360 PASS - - - - - Del - D 12547394 12547404 1 15 321.229 - - 9 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 2 4 3 35 17 35 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760112387 2 12861054 CT C 360 PASS TRIB2 CCDS1683.1 r.? - - Del intronic D 12861054 12861064 1 15 323.035 - - 9 1 1 TRIB2|CCDS1683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIB2|CCDS1683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 2 5 5 26 29 26 29 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760112626 2 13870023 CT C 300 PASS - - - - - Del - D 13870023 13870032 1 12 269.196 - - 8 1 1 - - ./. 0 0 0 0 4 15 4 15 0 0 ./. 2 3 3 4 27 19 27 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760112666 2 13994773 CA C 300 PASS - - - - - Del - D 13994773 13994781 1 12 267.992 - - 7 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 3 2 3 3 32 23 32 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760112957 2 14916731 CA C 360 PASS - - - - - Del - D 14916731 14916739 1 7 323.035 - - 7 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 0 6 3 10 21 36 21 36 3 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760113072 2 15389133 AC A 312 PASS NBAS CCDS1685.1 r.? - - Del intronic D 15389133 15389135 1 15 321.831 - - 1 1 1 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 4 4 6 37 24 37 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760113125 2 15561182 G GT 360 PASS NBAS CCDS1685.1 r.? - - Ins intronic I 15561182 15561190 1 15 319.423 - - 7 1 1 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 21 8 21 0 0 ./. 4 2 4 4 19 39 20 39 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760113135 2 15587808 AT A 360 PASS NBAS CCDS1685.1 r.? - - Del intronic D 15587808 15587816 1 12 323.035 - - 7 1 1 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 1 5 2 7 15 32 15 32 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760113554 2 16848344 G GT 300 PASS FAM49A CCDS1688.1 r.? - - Ins upstream I 16848344 16848353 1 6 262.573 - - 8 1 1 FAM49A|CCDS1688.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 FAM49A|CCDS1688.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 11 12 11 13 0 0 ./. 0 5 2 8 20 35 20 35 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760113573 2 17009146 CT C 360 PASS - - - - - Del - D 17009146 17009155 1 15 323.035 - - 8 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 2 6 3 32 27 32 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760113628 2 17264776 CA C 374 PASS - - - - - Del - D 17264776 17264785 1 20 375.67 - - 8 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 4 4 4 16 23 16 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760113876 2 18245030 TC T 480 PASS - - - - - Del - D 18245030 18245038 1 24 430.714 - - 7 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 3 6 4 30 21 30 21 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760113883 2 18279512 CT C 360 PASS - - - - - Del - D 18279512 18279520 1 16 323.035 - - 7 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 3 3 4 27 26 27 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760114415 2 20254200 CTT C 480 PASS LAPTM4A CCDS1696.1 r.? - - Del upstream D 20254200 20254204 2 21 430.714 - - 3 1 1 LAPTM4A|CCDS1696.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LAPTM4A|CCDS1696.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 2 10 3 26 30 26 30 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760114513 2 20552814 TG T 360 PASS PUM2 CCDS1698.1 r.? - - Del upstream D 20552814 20552821 1 15 323.035 - - 6 1 1 PUM2|CCDS1698.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PUM2|CCDS1698.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 2 6 2 28 27 28 27 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760114640 2 20986315 GT G 420 PASS C2orf43 CCDS1702.1 r.? - - Del intronic D 20986315 20986325 1 20 375.068 - - 9 1 1 C2orf43|CCDS1702.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C2orf43|CCDS1702.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 3 4 5 5 24 38 24 38 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760114811 2 21672772 GT G 360 PASS - - - - - Del - D 21672772 21672781 1 16 320.025 - - 8 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 3 3 5 20 34 20 34 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760114841 2 21794771 CA C 720 PASS - - - - - Del - D 21794771 21794779 1 48 646.07 - - 7 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 7 5 8 6 34 33 34 33 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115019 2 22608461 A AC 300 PASS - - - - - Ins - I 22608461 22608469 1 10 266.186 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 10 0 0 ./. 4 1 4 1 17 25 17 25 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115041 2 22704281 TG T 420 PASS - - - - - Del - D 22704281 22704285 1 20 376.272 - - 3 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 3 4 3 32 33 32 33 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115065 2 22796400 GT G 420 PASS - - - - - Del - D 22796400 22796409 1 18 376.874 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 5 3 7 28 31 28 31 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115067 2 22811023 CT C 360 PASS - - - - - Del - D 22811023 22811033 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 4 2 5 14 27 14 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115135 2 23071116 CA C 360 PASS - - - - - Del - D 23071116 23071126 1 12 323.035 - - 9 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 1 5 1 5 13 27 13 27 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115140 2 23090590 TA T 360 PASS - - - - - Del - D 23090590 23090599 1 16 323.035 - - 8 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 4 5 22 25 22 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115182 2 23241629 G GA 600 PASS - - - - - Ins - I 23241629 23241639 1 35 532.371 - - 9 1 1 - - ./. 0 0 0 0 17 8 17 9 0 0 ./. 4 6 6 6 26 34 26 34 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115259 2 23527205 GCT G 300 PASS - - - - - Del - D 23527205 23527224 2 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 3 2 29 19 29 19 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115471 2 24143125 C CA 329 PASS ATAD2B CCDS46227.1 r.? - - Ins intronic I 24143125 24143134 1 16 319.423 - - 8 1 1 ATAD2B|CCDS46227.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATAD2B|CCDS46227.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 3 4 3 31 27 31 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115507 2 24206555 CT C 420 PASS UBXN2A CCDS1704.1 r.? - - Del intronic D 24206555 24206564 1 20 375.67 - - 8 1 1 UBXN2A|CCDS1704.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBXN2A|CCDS1704.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 3 5 3 30 20 30 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115522 2 24255084 AT A 300 PASS C2orf44 CCDS1705.1 r.? - - Del intronic D 24255084 24255093 1 10 264.38 - - 8 1 1 C2orf44|CCDS1705.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C2orf44|CCDS1705.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 17 4 17 0 0 ./. 1 4 3 6 22 24 22 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115540 2 24291727 G GT 420 PASS ENSG00000115128 CCDS1707.1 r.? - - Ins intronic I 24291727 24291735 1 20 372.058 - - 7 1 - ENSG00000115128|CCDS1707.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000115128|CCDS1707.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 4 5 5 21 36 23 37 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115652 2 24512657 AT A 300 PASS ITSN2 CCDS1710.2 r.? - - Del intronic D 24512657 24512666 1 12 269.196 - - 8 1 1 ITSN2|CCDS1710.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITSN2|CCDS1710.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 4 2 26 18 26 18 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115781 2 24810157 T TA 269 PASS NCOA1 CCDS1713.1 r.? - - Ins intronic I 24810157 24810167 1 12 266.186 - - 9 1 1 NCOA1|CCDS1713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NCOA1|CCDS1713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 3 2 5 3 31 16 32 16 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115860 2 25030338 AT A 360 PASS CENPO CCDS1714.1 r.? - - Del intronic D 25030338 25030347 1 12 323.035 - - 8 1 1 CENPO|CCDS1714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CENPO|CCDS1714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 5 1 5 2 18 9 18 9 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760115887 2 25094085 TA T 360 PASS ADCY3 CCDS1715.1 r.? - - Del intronic D 25094085 25094095 1 15 323.035 - - 9 1 1 ADCY3|CCDS1715.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY3|CCDS1715.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 2 4 2 26 18 26 18 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760116105 2 25654809 A AT 300 PASS DTNB CCDS46237.1 r.? - - Ins intronic I 25654809 25654818 1 12 266.186 - - 8 1 1 DTNB|CCDS46237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DTNB|CCDS46237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 3 3 5 19 32 20 32 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760116144 2 25728502 TA T 300 PASS DTNB CCDS46237.1 r.? - - Del intronic D 25728502 25728511 1 12 269.196 - - 8 1 1 DTNB|CCDS46237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DTNB|CCDS46237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 3 5 13 27 13 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760116223 2 25971046 TG T 300 PASS ASXL2 ENST00000435504 r.? - - Del intronic D 25971046 25971053 1 10 255.951 - - 6 1 1 ASXL2|ENST00000435504|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASXL2|ENST00000435504|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 1 4 1 4 21 22 21 22 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760116272 2 26118281 CT C 420 PASS - - - - - Del - D 26118281 26118291 1 20 372.66 - - 9 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 4 3 6 16 28 16 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760116388 2 26326788 CT C 300 PASS RAB10 CCDS1720.1 r.? - - Del intronic D 26326788 26326798 1 12 269.196 - - 9 1 1 RAB10|CCDS1720.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB10|CCDS1720.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 5 2 24 11 24 11 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760116389 2 26328006 GT G 269 PASS RAB10 CCDS1720.1 r.? - - Del intronic D 26328006 26328015 1 10 269.196 - - 8 1 1 RAB10|CCDS1720.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB10|CCDS1720.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 19 5 19 0 0 ./. 4 1 7 3 27 21 27 21 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760116520 2 26700546 GC G 300 PASS OTOF CCDS1725.1 r.2412delG c.2285delG p.G762fs*6 Del frameshift D 26700546 26700551 1 10 269.196 - - 4 1 1 OTOF|CCDS1725.1|r.2412delG|c.2285delG|p.G762fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 OTOF|CCDS1725.1|r.2412delG|c.2285delG|p.G762fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 1 5 2 30 20 30 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760116644 2 27144033 C CA 300 PASS DPYSL5 CCDS1730.1 r.? - - Ins intronic I 27144033 27144042 1 12 257.155 - - 8 1 1 DPYSL5|CCDS1730.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPYSL5|CCDS1730.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 3 2 2 19 22 19 22 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760116700 2 27321894 C CA 480 PASS KHK CCDS1734.1 r.? - - Ins intronic I 27321894 27321901 1 24 425.897 - - 6 1 1 KHK|CCDS1734.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CGREF1|ENST00000402550|r.1437_1438insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 8 6 8 6 0 0 ./. 5 3 5 3 22 37 22 37 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760116853 2 27667818 GT G 478 PASS IFT172 CCDS1755.1 r.? - - Del intronic D 27667818 27667828 1 24 484.553 - - 9 1 1 IFT172|CCDS1755.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IFT172|CCDS1755.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 7 3 9 23 46 23 46 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760116916 2 27819258 CT C 300 PASS ZNF512 CCDS1758.1 r.? - - Del intronic D 27819258 27819267 1 10 267.992 - - 8 1 1 ZNF512|CCDS1758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF512|CCDS1758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 1 4 3 6 19 27 19 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117013 2 28212664 CT C 420 PASS BRE CCDS1764.1 r.? - - Del intronic D 28212664 28212674 1 20 376.874 - - 9 1 1 BRE|CCDS1764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRE|CCDS1764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 3 5 5 23 28 23 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117083 2 28448514 TA T 300 PASS BRE CCDS1764.1 r.? - - Del intronic D 28448514 28448520 1 10 268.594 - - 5 1 1 BRE|CCDS1764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRE|CCDS1764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 1 4 3 5 16 22 16 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117133 2 28648675 GT G 660 PASS - - - - - Del - D 28648675 28648678 1 36 591.027 - - 2 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 8 3 9 28 27 28 27 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117159 2 28722751 CA C 420 PASS PLB1 CCDS33168.1 r.? - - Del intronic D 28722751 28722761 1 20 376.874 - - 9 1 1 PLB1|CCDS33168.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLB1|CCDS33168.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 3 6 3 22 24 22 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117337 2 29183996 CA C 420 PASS FAM179A ENST00000401723 r.? - - Del intronic D 29183996 29184004 1 20 376.874 - - 7 1 1 FAM179A|ENST00000401723|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM179A|ENST00000401723|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 4 3 5 8 29 8 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117485 2 29564489 CA C 360 PASS ALK CCDS33172.1 r.? - - Del intronic D 29564489 29564499 1 15 322.433 - - 9 1 1 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 4 2 5 3 22 15 22 15 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117565 2 29776735 G GT 300 PASS ALK CCDS33172.1 r.? - - Ins intronic I 29776735 29776744 1 12 266.186 - - 8 1 1 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 14 8 0 0 ./. 3 2 3 4 19 39 19 39 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117726 2 30373653 CT C 540 PASS YPEL5 CCDS1771.1 r.? - - Del intronic D 30373653 30373662 1 30 484.553 - - 8 1 1 YPEL5|CCDS1771.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 YPEL5|CCDS1771.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 20 9 20 0 0 ./. 5 4 5 5 21 22 21 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117803 2 30612176 GA G 600 PASS - - - - - Del - D 30612176 30612186 1 35 531.167 - - 9 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 6 4 6 5 26 23 26 23 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117830 2 30701826 AT A 420 PASS LCLAT1 CCDS1772.1 r.? - - Del intronic D 30701826 30701834 1 18 376.874 - - 7 1 1 LCLAT1|CCDS1772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LCLAT1|CCDS1772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 2 5 2 32 16 32 16 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117833 2 30706789 AT A 360 PASS LCLAT1 CCDS1772.1 r.? - - Del intronic D 30706789 30706799 1 15 321.229 - - 9 1 1 LCLAT1|CCDS1772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LCLAT1|CCDS1772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 4 2 8 22 31 22 31 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117884 2 30866717 A AT 480 PASS LCLAT1 CCDS1772.1 r.4686_4687insu c.? p.? Ins 3'UTR variant I 30866717 30866718 1 21 425.897 - - 0 1 1 LCLAT1|CCDS1772.1|r.4686_4687insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 LCLAT1|CCDS1772.1|r.4686_4687insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 6 12 7 13 0 0 ./. 2 6 5 10 31 33 31 33 5 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117918 2 31013200 GA G 480 PASS CAPN13 CCDS46252.1 r.? - - Del intronic D 31013200 31013209 1 21 424.091 - - 8 1 1 CAPN13|CCDS46252.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CAPN13|CCDS46252.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 2 7 3 34 31 34 31 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117922 2 31046060 CA C 420 PASS - - - - - Del - D 31046060 31046070 1 18 376.874 - - 9 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 2 5 3 29 26 29 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117931 2 31089103 T TTG 300 PASS - - - - - Ins - I 31089103 31089119 2 12 263.175 - - 7 1 1 - - ./. 0 0 0 0 11 18 12 18 0 0 ./. 2 3 4 3 27 30 27 31 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117933 2 31105363 CT C 420 PASS - - - - - Del - D 31105363 31105373 1 20 376.874 - - 9 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 4 3 4 27 31 27 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760117997 2 31355979 TA T 300 PASS GALNT14 CCDS1773.2 r.? - - Del intronic D 31355979 31355989 1 12 269.196 - - 9 1 1 GALNT14|CCDS1773.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT14|CCDS1773.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 4 2 32 15 32 15 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118001 2 31370519 AT A 360 PASS - - - - - Del - D 31370519 31370529 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 2 4 2 4 28 14 28 14 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118068 2 31561513 A AT 420 PASS XDH CCDS1775.1 r.? - - Ins intronic I 31561513 31561520 1 18 372.66 - - 6 1 1 XDH|CCDS1775.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XDH|CCDS1775.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 25 14 25 0 0 ./. 2 5 3 6 21 42 21 42 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118108 2 31695740 CA C 300 PASS - - - - - Del - D 31695740 31695746 1 12 269.196 - - 5 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 2 4 2 25 24 25 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118141 2 31843910 CA C 360 PASS - - - - - Del - D 31843910 31843918 1 15 323.035 - - 7 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 4 2 6 2 25 12 25 12 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118151 2 31902562 AT A 360 PASS - - - - - Del - D 31902562 31902570 1 16 323.035 - - 7 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 3 3 4 4 17 25 17 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118153 2 31924997 C CT 300 PASS - - - - - Ins - I 31924997 31925007 1 10 263.175 - - 9 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 1 4 3 4 24 35 26 36 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118154 2 31924997 CT C 420 PASS - - - - - Del - D 31924997 31925007 1 20 376.874 - - 9 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 3 4 4 22 31 22 31 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118196 2 32078451 ACTAT A 478 PASS - - - - - Del - D 32078451 32078458 4 28 484.553 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 6 3 6 26 29 26 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118327 2 32438150 AT A 420 PASS SLC30A6 CCDS1780.1 r.? - - Del intronic D 32438150 32438159 1 20 376.874 - - 8 1 1 SLC30A6|CCDS1780.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC30A6|CCDS1780.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 4 3 4 26 19 26 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118355 2 32535647 G GA 360 PASS YIPF4 CCDS1781.1 r.5933_5934insa c.? p.? Ins 3'UTR variant I 32535647 32535657 1 15 319.423 - - 9 1 1 YIPF4|CCDS1781.1|r.5933_5934insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 YIPF4|CCDS1781.1|r.5933_5934insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 12 5 12 6 0 0 ./. 4 2 5 2 44 18 44 18 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118374 2 32588420 CT C 300 PASS BIRC6 CCDS33175.2 r.? - - Del intronic D 32588420 32588430 1 10 269.196 - - 9 1 1 BIRC6|CCDS33175.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BIRC6|CCDS33175.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 1 7 5 19 26 19 26 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118384 2 32605797 CAA C 300 PASS BIRC6 CCDS33175.2 r.? - - Del intronic D 32605797 32605807 2 12 269.196 - - 9 1 1 BIRC6|CCDS33175.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BIRC6|CCDS33175.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 3 5 8 20 30 20 30 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118645 2 33341798 GGA G 269 PASS LTBP1 CCDS33177.1 r.? - - Del intronic D 33341798 33341813 2 12 260.165 - - 7 1 1 LTBP1|CCDS33177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LTBP1|CCDS33177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 2 7 2 29 24 29 24 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118725 2 33610470 T TA 540 PASS LTBP1 CCDS33177.1 r.? - - Ins intronic I 33610470 33610479 1 30 479.134 - - 8 1 1 LTBP1|CCDS33177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LTBP1|CCDS33177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 21 11 21 0 0 ./. 5 4 6 5 33 32 34 32 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118755 2 33651103 TA T 509 PASS - - - - - Del - D 33651103 33651112 1 28 484.553 - - 8 1 1 - - ./. 0 0 0 0 16 3 16 3 0 0 ./. 3 6 5 7 30 27 30 27 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760118999 2 34218897 CA C 480 PASS - - - - - Del - D 34218897 34218904 1 24 430.714 - - 6 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 5 5 5 36 26 36 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760119105 2 34587549 GA G 300 PASS - - - - - Del - D 34587549 34587558 1 6 269.196 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 0 7 0 31 11 31 11 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760119197 2 34822549 TG T 360 PASS - - - - - Del - D 34822549 34822551 1 16 323.035 - - 1 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 3 3 3 3 12 13 12 13 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760119423 2 35532213 CA C 300 PASS - - - - - Del - D 35532213 35532223 1 6 269.196 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 0 5 0 12 15 12 15 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760119577 2 35901317 CT C 660 PASS - - - - - Del - D 35901317 35901327 1 30 592.231 - - 9 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 9 2 10 3 34 23 34 23 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760119617 2 36026782 AT A 300 PASS - - - - - Del - D 36026782 36026789 1 10 269.196 - - 6 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 4 1 4 1 32 27 32 27 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760119641 2 36114619 AT A 420 PASS - - - - - Del - D 36114619 36114629 1 18 375.068 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 2 7 2 21 9 21 9 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760119702 2 36313403 C CCA 360 PASS - - - - - Ins - I 36313403 36313423 2 15 315.811 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 2 5 2 30 19 31 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760119786 2 36594541 GA G 540 PASS CRIM1 CCDS1783.1 r.? - - Del intronic D 36594541 36594549 1 30 482.747 - - 7 1 1 CRIM1|CCDS1783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRIM1|CCDS1783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 4 5 4 7 35 34 35 34 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760119866 2 36879209 CA C 360 PASS - - - - - Del - D 36879209 36879218 1 12 323.035 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 1 8 2 25 6 25 6 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760120028 2 37195138 T TC 360 PASS STRN CCDS1784.1 r.? - - Ins upstream I 37195138 37195146 1 16 315.208 - - 7 1 1 STRN|CCDS1784.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 STRN|CCDS1784.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 3 6 3 19 25 20 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760120050 2 37229313 TA T 540 PASS HEATR5B CCDS33181.1 r.? - - Del intronic D 37229313 37229321 1 30 484.553 - - 7 1 1 HEATR5B|CCDS33181.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HEATR5B|CCDS33181.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 5 4 5 5 28 33 28 33 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760120457 2 38075442 A AC 360 PASS - - - - - Ins - I 38075442 38075450 1 12 318.219 - - 7 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 1 7 3 35 26 35 26 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760120706 2 38657244 CA C 540 PASS - - - - - Del - D 38657244 38657254 1 18 480.94 - - 9 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 1 8 1 9 18 25 18 25 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760120763 2 38897560 GA G 300 PASS GALM CCDS1797.1 r.? - - Del intronic D 38897560 38897569 1 10 269.196 - - 8 1 1 GALM|CCDS1797.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALM|CCDS1797.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 1 7 4 33 17 33 17 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760121072 2 39662085 AT A 300 PASS MAP4K3 CCDS1803.1 r.? - - Del intronic D 39662085 39662095 1 12 269.196 - - 9 1 1 MAP4K3|CCDS1803.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP4K3|CCDS1803.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 4 4 22 14 22 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760121103 2 39719460 ATATT A 269 PASS - - - - - Del - D 39719460 39719467 4 12 269.196 - - 1 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 3 2 3 4 24 31 24 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760121106 2 39722100 TG T 480 PASS - - - - - Del - D 39722100 39722108 1 21 429.51 - - 7 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 2 9 3 23 23 23 23 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760121192 2 40058775 AT A 420 PASS - - - - - Del - D 40058775 40058785 1 20 369.048 - - 9 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 3 5 4 23 41 23 41 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760121216 2 40137100 G GA 540 PASS - - - - - Ins - I 40137100 40137109 1 30 477.93 - - 8 1 1 - - ./. 0 0 0 0 6 14 7 15 0 0 ./. 4 5 7 5 30 31 30 32 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760121221 2 40142663 ATT A 360 PASS - - - - - Del - D 40142663 40142672 2 12 323.035 - - 8 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 5 1 7 1 37 21 37 21 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760121555 2 41267401 AT A 360 PASS - - - - - Del - D 41267401 41267410 1 16 320.627 - - 8 1 1 - - ./. 0 0 0 0 14 5 14 5 0 0 ./. 3 3 4 6 22 26 22 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760121604 2 41548438 CA C 420 PASS - - - - - Del - D 41548438 41548447 1 14 376.874 - - 8 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 1 6 1 23 22 23 22 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760121777 2 42061778 GA G 360 PASS - - - - - Del - D 42061778 42061788 1 12 323.035 - - 9 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 1 6 2 29 24 29 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760122011 2 42684631 CA C 420 PASS KCNG3 CCDS1809.1 r.? - - Del intronic D 42684631 42684641 1 18 376.874 - - 9 1 1 KCNG3|CCDS1809.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNG3|CCDS1809.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 5 2 6 11 23 11 23 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760122180 2 43001625 CT C 300 PASS HAAO CCDS33187.1 r.? - - Del intronic D 43001625 43001634 1 12 269.196 - - 8 1 1 HAAO|CCDS33187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HAAO|CCDS33187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 3 2 27 30 27 30 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760122198 2 43019548 AG A 420 PASS HAAO CCDS33187.1 r.? - - Del intronic D 43019548 43019554 1 20 375.068 - - 5 1 1 HAAO|CCDS33187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HAAO|CCDS33187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 4 3 5 22 21 22 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760122701 2 44424262 CT C 300 PASS PPM1B CCDS1816.1 r.? - - Del intronic D 44424262 44424272 1 12 263.777 - - 9 1 1 PPM1B|CCDS1816.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PPM1B|CCDS1816.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 6 18 6 0 0 ./. 3 2 3 3 21 17 21 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760122723 2 44490313 TA T 269 PASS - - - - - Del - D 44490313 44490319 1 6 269.196 - - 5 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 0 5 1 7 21 22 21 22 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760122725 2 44507686 A AT 540 PASS SLC3A1 CCDS1819.1 r.? - - Ins intronic I 44507686 44507693 1 18 479.134 - - 6 1 1 SLC3A1|CCDS1819.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC3A1|CCDS1819.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 8 1 10 3 35 26 35 26 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760122791 2 44715485 CA C 297 PASS C2orf34 CCDS1820.1 r.? - - Del intronic D 44715485 44715494 1 20 376.874 - - 8 1 1 C2orf34|CCDS1820.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C2orf34|CCDS1820.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 3 4 3 5 18 25 18 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760122866 2 44936757 AT A 300 PASS C2orf34 CCDS1820.1 r.? - - Del intronic D 44936757 44936767 1 12 269.196 - - 9 1 1 C2orf34|CCDS1820.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C2orf34|CCDS1820.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 3 2 3 10 28 10 28 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123068 2 45572540 GC G 300 PASS - - - - - Del - D 45572540 45572547 1 10 269.196 - - 6 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 4 2 5 18 33 18 33 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123087 2 45668061 GA G 360 PASS SRBD1 CCDS1823.1 r.? - - Del intronic D 45668061 45668069 1 15 323.035 - - 7 1 1 SRBD1|CCDS1823.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRBD1|CCDS1823.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 4 2 6 2 21 19 21 19 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123146 2 45900507 CT C 300 PASS PRKCE CCDS1824.1 r.? - - Del intronic D 45900507 45900516 1 12 269.196 - - 8 1 1 PRKCE|CCDS1824.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCE|CCDS1824.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 4 3 24 29 24 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123151 2 45929824 CT C 480 PASS PRKCE CCDS1824.1 r.? - - Del intronic D 45929824 45929833 1 25 430.714 - - 8 1 1 PRKCE|CCDS1824.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCE|CCDS1824.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 4 4 5 28 27 28 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123316 2 46454462 GA G 300 PASS - - - - - Del - D 46454462 46454472 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 2 4 6 21 6 21 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123379 2 46643640 TA T 360 PASS - - - - - Del - D 46643640 46643649 1 12 322.433 - - 8 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 1 5 1 25 6 25 6 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123385 2 46662170 TA T 420 PASS - - - - - Del - D 46662170 46662179 1 14 376.874 - - 8 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 1 6 1 6 23 29 23 29 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123642 2 47387458 CA C 300 PASS CALM2 CCDS1832.1 r.1064delU c.? p.? Del 3'UTR variant D 47387458 47387466 1 12 268.594 - - 7 1 1 CALM2|CCDS1832.1|r.1064delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CALM2|CCDS1832.1|r.1064delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 3 3 22 22 22 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123782 2 47780537 GT G 540 PASS KCNK12 CCDS1835.1 r.? - - Del intronic D 47780537 47780546 1 28 483.951 - - 8 1 1 KCNK12|CCDS1835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNK12|CCDS1835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 3 7 4 26 29 26 29 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123791 2 47822211 CT C 480 PASS - - - - - Del - D 47822211 47822219 1 24 428.305 - - 7 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 5 5 5 28 35 28 35 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123942 2 48243239 CT C 540 PASS - - - - - Del - D 48243239 48243244 1 28 483.951 - - 4 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 6 4 7 13 38 13 38 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123964 2 48305274 CA C 600 PASS - - - - - Del - D 48305274 48305284 1 35 538.392 - - 9 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 6 6 6 29 26 29 26 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123984 2 48386466 TA T 300 PASS - - - - - Del - D 48386466 48386475 1 6 269.196 - - 8 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 0 6 1 24 12 24 12 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760123996 2 48444354 CA C 300 PASS - - - - - Del - D 48444354 48444362 1 6 264.38 - - 7 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 0 5 1 7 4 35 4 35 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760124020 2 48526461 GT G 422 PASS - - - - - Del - D 48526461 48526471 1 36 592.231 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 8 3 9 7 32 33 32 33 9 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760124166 2 48952905 GA G 540 PASS LHCGR CCDS1842.1 r.? - - Del intronic D 48952905 48952915 1 28 483.349 - - 9 1 1 LHCGR|CCDS1842.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHCGR|CCDS1842.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 6 3 6 22 26 22 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760124184 2 49006040 TTC T 420 PASS STON1-GTF2A1L ENST00000402114 r.? - - Del downstream D 49006040 49006044 2 18 376.874 - - 1 1 1 STON1-GTF2A1L|ENST00000402114|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 STON1-GTF2A1L|ENST00000402114|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 2 5 3 26 28 26 28 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760124216 2 49109051 GT G 660 PASS - - - - - Del - D 49109051 49109061 1 22 591.629 - - 9 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 1 10 1 11 22 37 22 37 1 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760124234 2 49203755 CT C 389 PASS FSHR CCDS1843.1 r.? - - Del intronic D 49203755 49203763 1 25 430.714 - - 7 1 1 FSHR|CCDS1843.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSHR|CCDS1843.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 4 4 9 22 33 22 33 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760124246 2 49239056 AAG A 480 PASS FSHR CCDS1843.1 r.? - - Del intronic D 49239056 49239067 2 24 428.908 - - 5 1 1 FSHR|CCDS1843.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSHR|CCDS1843.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 5 3 5 26 19 26 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760124496 2 50272026 TA T 538 PASS NRXN1 CCDS46282.1 r.? - - Del intronic D 50272026 50272035 1 27 538.392 - - 8 1 1 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 8 2 9 3 28 32 28 32 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760124607 2 50592247 CT C 300 PASS NRXN1 CCDS46282.1 r.? - - Del intronic D 50592247 50592257 1 10 269.196 - - 9 1 1 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 1 4 2 4 10 27 10 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760124768 2 51086272 AT A 360 PASS NRXN1 CCDS46282.1 r.? - - Del intronic D 51086272 51086282 1 12 323.035 - - 9 1 1 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 1 6 1 30 29 30 29 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760124836 2 51335531 A AT 420 PASS - - - - - Ins - I 51335531 51335540 1 18 372.66 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 5 3 5 23 29 24 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760124977 2 51785383 CT C 321 PASS - - - - - Del - D 51785383 51785393 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 2 4 3 5 30 23 30 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760125058 2 52068628 CT C 480 PASS - - - - - Del - D 52068628 52068637 1 21 430.714 - - 8 1 - - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 6 2 7 7 30 26 30 26 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760125080 2 52284036 G GT 360 PASS - - - - - Ins - I 52284036 52284043 1 12 319.423 - - 6 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 1 5 1 7 19 27 21 27 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760125149 2 52579890 C CT 420 PASS - - - - - Ins - I 52579890 52579894 1 8 372.66 - - 3 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 7 0 7 0 26 5 26 5 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760125188 2 52688541 TA T 420 PASS - - - - - Del - D 52688541 52688550 1 18 376.874 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 5 2 7 11 38 11 38 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760125241 2 52912745 TA T 360 PASS - - - - - Del - D 52912745 52912753 1 15 321.229 - - 7 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 2 4 4 23 27 23 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760125243 2 52926531 AT A 360 PASS - - - - - Del - D 52926531 52926541 1 12 319.423 - - 9 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 5 1 6 22 24 22 24 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760125307 2 53128891 GA G 360 PASS - - - - - Del - D 53128891 53128900 1 15 323.035 - - 8 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 4 2 5 15 18 15 18 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760125393 2 53442440 CT C 355 PASS - - - - - Del - D 53442440 53442449 1 16 323.035 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 3 5 3 32 21 32 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760125443 2 53695418 GA G 420 PASS - - - - - Del - D 53695418 53695427 1 18 376.874 - - 8 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 5 2 5 3 23 29 23 29 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760125738 2 54621606 CA C 509 PASS - - - - - Del - D 54621606 54621616 1 30 484.553 - - 9 1 1 - - ./. 0 0 0 0 9 3 9 3 0 0 ./. 4 5 4 8 29 18 29 18 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760125758 2 54715886 GA G 300 PASS SPTBN1 CCDS33198.1 r.? - - Del intronic D 54715886 54715895 1 10 264.38 - - 8 1 1 SPTBN1|CCDS33198.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SPTBN1|CCDS33198.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 1 4 3 4 10 21 10 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126114 2 55734936 CT C 480 PASS - - - - - Del - D 55734936 55734946 1 21 430.714 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 2 10 4 30 30 30 30 10 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126233 2 55988437 A AT 360 PASS - - - - - Ins - I 55988437 55988445 1 15 319.423 - - 7 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 4 2 4 29 22 30 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126273 2 56128404 GC G 720 PASS EFEMP1 CCDS1857.1 r.? - - Del intronic D 56128404 56128406 1 40 646.07 - - 1 1 1 EFEMP1|CCDS1857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EFEMP1|CCDS1857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 4 13 4 0 0 ./. 9 3 10 3 30 24 30 24 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126284 2 56167810 GT G 300 PASS - - - - - Del - D 56167810 56167814 1 10 269.196 - - 3 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 1 4 3 6 16 22 16 22 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126290 2 56195772 AT A 660 PASS - - - - - Del - D 56195772 56195780 1 36 592.231 - - 7 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 8 4 10 20 26 20 26 4 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126310 2 56290511 CT C 269 PASS - - - - - Del - D 56290511 56290521 1 12 267.992 - - 9 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 2 3 4 4 37 31 37 31 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126453 2 57061292 A AG 780 PASS - - - - - Ins - I 57061292 57061298 1 54 692.083 - - 5 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 8 6 10 25 21 25 21 6 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126627 2 57616052 C CA 600 PASS - - - - - Ins - I 57616052 57616057 1 35 532.371 - - 4 1 1 - - ./. 0 0 0 0 12 10 12 12 0 0 ./. 4 6 4 7 25 33 25 33 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126740 2 58105770 CA C 300 PASS - - - - - Del - D 58105770 58105780 1 12 268.594 - - 9 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 2 3 3 4 21 33 21 33 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126744 2 58121857 GA G 480 PASS - - - - - Del - D 58121857 58121867 1 21 430.714 - - 9 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 2 6 2 6 14 28 14 28 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126861 2 58594575 TA T 540 PASS - - - - - Del - D 58594575 58594585 1 28 484.553 - - 9 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 6 3 6 6 14 15 14 15 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126864 2 58622684 A AT 480 PASS - - - - - Ins - I 58622684 58622693 1 21 425.897 - - 8 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 6 2 6 2 33 8 34 8 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126909 2 58871318 GTT G 360 PASS - - - - - Del - D 58871318 58871322 2 16 320.627 - - 3 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 3 5 20 16 20 16 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760126921 2 58918149 CAA C 480 PASS - - - - - Del - D 58918149 58918153 2 21 430.714 - - 3 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 6 2 8 4 34 31 34 31 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127036 2 59386497 TA T 300 PASS - - - - - Del - D 59386497 59386506 1 10 269.196 - - 8 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 1 4 1 28 14 28 14 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127054 2 59460890 TC T 300 PASS - - - - - Del - D 59460890 59460896 1 12 269.196 - - 5 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 2 3 4 3 22 23 22 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127086 2 59624010 GA G 540 PASS - - - - - Del - D 59624010 59624019 1 30 484.553 - - 8 1 1 - - ./. 0 0 0 0 2 9 2 9 0 0 ./. 4 5 4 6 22 24 22 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127103 2 59679798 CTT C 300 PASS - - - - - Del - D 59679798 59679802 2 12 269.196 - - 3 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 4 6 13 35 13 35 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127131 2 59776077 CAA C 360 PASS - - - - - Del - D 59776077 59776086 2 15 323.035 - - 8 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 4 7 4 32 26 32 26 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127162 2 59898192 AT A 480 PASS - - - - - Del - D 59898192 59898202 1 21 425.295 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 2 7 6 28 26 28 26 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127228 2 60203156 CT C 540 PASS - - - - - Del - D 60203156 60203166 1 28 476.726 - - 9 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 6 3 8 3 31 24 31 24 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127242 2 60284276 TA T 480 PASS - - - - - Del - D 60284276 60284283 1 25 430.112 - - 6 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 4 5 4 23 24 23 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127256 2 60336359 C CA 360 PASS - - - - - Ins - I 60336359 60336369 1 15 317.617 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 2 5 5 35 26 36 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127317 2 60547292 CT C 420 PASS - - - - - Del - D 60547292 60547302 1 18 376.874 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 5 3 5 22 16 22 16 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127394 2 60747449 CT C 360 PASS BCL11A CCDS1862.1 r.? - - Del intronic D 60747449 60747459 1 15 323.035 - - 9 1 1 BCL11A|CCDS1862.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCL11A|CCDS1862.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 25 10 25 0 0 ./. 2 4 4 5 21 22 21 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127572 2 61199816 CA C 480 PASS PUS10 CCDS1865.1 r.? - - Del intronic D 61199816 61199824 1 21 430.112 - - 7 1 1 PUS10|CCDS1865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PUS10|CCDS1865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 6 2 8 2 31 8 31 8 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127701 2 61506608 CT C 300 PASS USP34 CCDS42686.1 r.? - - Del intronic D 61506608 61506618 1 12 269.196 - - 9 1 1 USP34|CCDS42686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP34|CCDS42686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 3 2 4 3 24 9 24 9 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760127870 2 61844282 C CA 420 PASS - - - - - Ins - I 61844282 61844289 1 20 372.66 - - 6 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 3 6 3 31 26 31 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760128105 2 62371831 CA C 300 PASS AC107081.2 ENST00000506268 r.? - - Del intronic D 62371831 62371840 1 12 269.196 - - 8 1 1 AC107081.2|ENST00000506268|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC107081.2|ENST00000506268|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 2 3 3 6 34 20 34 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760128148 2 62498675 TA T 360 PASS AC107081.2 ENST00000506268 r.? - - Del intronic D 62498675 62498683 1 15 323.035 - - 7 1 1 AC107081.2|ENST00000506268|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC107081.2|ENST00000506268|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 7 3 33 26 33 26 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760128205 2 62666391 CT C 298 PASS - - - - - Del - D 62666391 62666401 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 4 4 5 27 27 27 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760128550 2 63914210 T TA 300 PASS - - - - - Ins - I 63914210 63914219 1 10 266.186 - - 8 1 1 - - ./. 0 0 0 0 13 20 13 21 0 0 ./. 1 4 2 4 25 21 25 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760128640 2 64177916 CT C 300 PASS VPS54 CCDS33208.1 r.? - - Del intronic D 64177916 64177926 1 12 269.196 - - 9 1 1 VPS54|CCDS33208.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS54|CCDS33208.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 2 5 2 30 18 30 18 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760128655 2 64230850 CA C 300 PASS VPS54 CCDS33208.1 r.? - - Del intronic D 64230850 64230860 1 10 269.196 - - 9 1 1 VPS54|CCDS33208.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 VPS54|CCDS33208.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 4 4 4 20 6 20 6 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760128683 2 64298654 CT C 269 PASS - - - - - Del - D 64298654 64298664 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 1 7 1 33 21 33 21 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129102 2 65429142 TA T 329 PASS - - - - - Del - D 65429142 65429151 1 15 315.208 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 4 2 5 24 34 24 34 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129370 2 66026550 G GA 449 PASS - - - - - Ins - I 66026550 66026557 1 21 425.897 - - 6 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 2 6 4 30 25 30 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129394 2 66136687 AT A 300 PASS - - - - - Del - D 66136687 66136697 1 12 268.594 - - 9 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 3 2 3 20 27 20 27 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129488 2 66450670 GA G 420 PASS - - - - - Del - D 66450670 66450677 1 18 376.874 - - 6 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 5 2 5 16 26 16 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129512 2 66570748 CA C 300 PASS - - - - - Del - D 66570748 66570756 1 6 267.992 - - 7 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 0 5 0 5 36 30 36 30 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129558 2 66760852 TA T 360 PASS MEIS1 CCDS46309.1 r.? - - Del intronic D 66760852 66760862 1 16 321.229 - - 9 1 1 MEIS1|CCDS46309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MEIS1|CCDS46309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 3 3 3 4 13 18 13 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129604 2 66879113 GA G 360 PASS - - - - - Del - D 66879113 66879123 1 16 323.035 - - 9 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 3 3 4 14 38 14 38 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129609 2 66890777 CT C 360 PASS - - - - - Del - D 66890777 66890785 1 12 321.831 - - 7 1 1 - - ./. 0 0 0 0 14 4 14 4 0 0 ./. 5 1 6 2 27 28 27 28 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129616 2 66901484 CT C 540 PASS - - - - - Del - D 66901484 66901492 1 30 483.951 - - 7 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 4 5 6 25 26 25 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129682 2 67100365 C CAG 300 PASS - - - - - Ins - I 67100365 67100381 2 12 261.369 - - 7 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 2 3 3 4 30 33 30 33 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129835 2 67669711 CA C 360 PASS - - - - - Del - D 67669711 67669721 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 7 2 23 10 23 10 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129886 2 67806696 AT A 420 PASS - - - - - Del - D 67806696 67806704 1 18 376.874 - - 7 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 5 4 7 22 23 22 23 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760129915 2 67905698 AT A 420 PASS - - - - - Del - D 67905698 67905705 1 8 376.874 - - 6 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 0 7 0 8 2 19 2 19 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130120 2 68507770 GA G 300 PASS CNRIP1 CCDS46311.1 r.? - - Del downstream D 68507770 68507779 1 6 269.196 - - 8 1 1 CNRIP1|CCDS46311.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CNRIP1|CCDS46311.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 16 12 16 0 0 ./. 0 5 0 6 4 31 4 31 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130338 2 69312471 AT A 300 PASS ANTXR1 CCDS1892.1 r.? - - Del intronic D 69312471 69312481 1 10 269.196 - - 9 1 1 ANTXR1|CCDS1892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANTXR1|CCDS1892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 1 4 2 6 17 25 17 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130368 2 69458722 AT A 360 PASS ANTXR1 CCDS1892.1 r.? - - Del intronic D 69458722 69458729 1 12 323.035 - - 6 1 1 ANTXR1|CCDS1892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANTXR1|CCDS1892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 1 5 2 5 19 26 19 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130376 2 69484720 GA G 449 PASS - - - - - Del - D 69484720 69484728 1 21 430.112 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 2 7 2 24 24 24 24 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130378 2 69505489 CA C 300 PASS - - - - - Del - D 69505489 69505497 1 10 269.196 - - 7 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 1 4 2 5 25 33 25 33 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130474 2 69747484 TC T 269 PASS AAK1 CCDS1893.2 r.? - - Del intronic D 69747484 69747486 1 6 252.94 - - 1 1 - AAK1|CCDS1893.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AAK1|CCDS1893.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 0 5 0 9 13 38 13 38 0 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130577 2 70039263 T TG 540 PASS ANXA4 CCDS1894.1 r.? - - Ins intronic I 70039263 70039264 1 30 477.93 - - 0 1 1 ANXA4|CCDS1894.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANXA4|CCDS1894.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 4 7 5 17 31 17 31 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130793 2 70613094 AT A 420 PASS - - - - - Del - D 70613094 70613104 1 20 376.874 - - 9 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 3 5 3 21 35 21 35 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130962 2 71067483 G GT 329 PASS CD207 ENST00000410009 r.? - - Ins upstream I 71067483 71067491 1 15 318.821 - - 7 1 - CD207|ENST00000410009|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CD207|ENST00000410009|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 19 7 19 7 0 0 ./. 2 4 4 4 31 16 31 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130963 2 71078817 CT C 300 PASS - - - - - Del - D 71078817 71078827 1 6 269.196 - - 9 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 5 0 5 0 19 0 19 0 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130983 2 71123827 TG T 420 PASS VAX2 CCDS1911.1 r.? - - Del upstream D 71123827 71123833 1 20 376.272 - - 5 1 1 VAX2|CCDS1911.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 VAX2|CCDS1911.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 3 4 4 26 34 26 34 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760130986 2 71139879 TG T 300 PASS VAX2 CCDS1911.1 r.? - - Del intronic D 71139879 71139887 1 12 269.196 - - 7 1 1 VAX2|CCDS1911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VAX2|CCDS1911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 3 9 3 0 0 ./. 2 3 4 4 30 26 30 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131288 2 72299027 CT C 360 PASS - - - - - Del - D 72299027 72299037 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 2 4 2 6 7 26 7 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131436 2 72933678 GT G 660 PASS EXOC6B CCDS46333.1 r.? - - Del intronic D 72933678 72933687 1 42 592.231 - - 8 1 1 EXOC6B|CCDS46333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC6B|CCDS46333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 5 6 5 6 24 26 24 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131444 2 72968602 TA T 420 PASS EXOC6B CCDS46333.1 r.245-5delu c.114-5delt p.? Del splice region D 72968602 72968612 1 20 376.874 - - 9 1 1 EXOC6B|CCDS46333.1|r.245-5delu|c.114-5delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 EXOC6B|CCDS46333.1|r.245-5delu|c.114-5delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 4 5 4 28 30 28 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131454 2 73020722 GA G 480 PASS EXOC6B CCDS46333.1 r.? - - Del intronic D 73020722 73020731 1 25 430.714 - - 8 1 1 EXOC6B|CCDS46333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC6B|CCDS46333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 4 5 6 33 20 33 20 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131482 2 73100289 CT C 300 PASS - - - - - Del - D 73100289 73100299 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 2 3 25 24 25 24 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131593 2 73513649 AAG A 300 PASS AC010913.1 ENST00000500494 r.664_665delAG - - Del non-coding variant D 73513649 73513662 2 10 269.196 - - 6 1 1 AC010913.1|ENST00000500494|r.664_665delAG|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 AC010913.1|ENST00000500494|r.664_665delAG|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 10 4 10 4 0 0 ./. 4 1 8 3 28 23 28 23 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131656 2 73739680 AT A 300 PASS ALMS1 CCDS42697.1 r.? - - Del intronic D 73739680 73739689 1 10 269.196 - - 8 1 1 ALMS1|CCDS42697.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALMS1|CCDS42697.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 1 4 2 5 10 12 10 12 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131688 2 73854469 GA G 300 PASS - - - - - Del - D 73854469 73854478 1 6 268.594 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 0 5 0 6 17 26 17 26 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131707 2 73917432 GA G 276 PASS - - - - - Del - D 73917432 73917442 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 4 35 25 35 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131790 2 74173717 CTT C 300 PASS DGUOK CCDS1931.1 r.? - - Del intronic D 74173717 74173722 2 10 268.594 - - 4 1 1 DGUOK|CCDS1931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DGUOK|CCDS1931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 4 1 4 6 25 41 25 41 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131817 2 74238806 CT C 420 PASS TET3 ENST00000409262 r.? - - Del intronic D 74238806 74238815 1 20 376.874 - - 8 1 1 TET3|ENST00000409262|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TET3|ENST00000409262|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 3 4 3 34 29 34 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760131995 2 74896981 CT C 300 PASS SEMA4F CCDS1955.1 r.? - - Del intronic D 74896981 74896991 1 6 269.196 - - 9 1 1 SEMA4F|CCDS1955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEMA4F|CCDS1955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 0 5 1 8 5 28 5 28 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132056 2 75064717 AC A 300 PASS HK2 CCDS1956.1 r.? - - Del intronic D 75064717 75064724 1 12 269.196 - - 6 1 1 HK2|CCDS1956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HK2|CCDS1956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 2 3 2 4 22 25 22 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132132 2 75347193 CT C 389 PASS TACR1 CCDS1958.1 r.? - - Del intronic D 75347193 75347203 1 20 375.67 - - 9 1 1 TACR1|CCDS1958.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TACR1|CCDS1958.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 4 3 5 24 31 24 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132209 2 75654570 TA T 300 PASS - - - - - Del - D 75654570 75654579 1 10 269.196 - - 8 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 1 4 2 5 19 29 19 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132216 2 75676217 CA C 300 PASS - - - - - Del - D 75676217 75676227 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 29 10 29 10 0 0 ./. 1 4 3 4 23 23 23 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132236 2 75760314 GA G 300 PASS FAM176A CCDS1959.1 r.? - - Del intronic D 75760314 75760324 1 12 262.573 - - 9 1 - FAM176A|CCDS1959.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM176A|CCDS1959.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 2 3 4 3 22 16 22 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132240 2 75774693 CT C 360 PASS FAM176A CCDS1959.1 r.? - - Del intronic D 75774693 75774702 1 15 322.433 - - 8 1 1 FAM176A|CCDS1959.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM176A|CCDS1959.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 4 6 6 31 29 31 29 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132249 2 75818529 GA G 360 PASS - - - - - Del - D 75818529 75818539 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 4 4 5 19 16 19 16 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132250 2 75819579 AT A 300 PASS - - - - - Del - D 75819579 75819589 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 3 3 7 17 31 17 31 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132396 2 76342496 CT C 300 PASS - - - - - Del - D 76342496 76342506 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 2 3 3 6 18 25 18 25 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132513 2 76657787 C CA 600 PASS - - - - - Ins - I 76657787 76657795 1 27 531.769 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 8 4 9 27 33 28 33 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132625 2 76922456 GT G 420 PASS - - - - - Del - D 76922456 76922464 1 20 376.874 - - 7 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 4 3 6 6 35 34 35 34 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132658 2 76984862 GA G 480 PASS LRRTM4 CCDS46346.1 r.? - - Del intronic D 76984862 76984870 1 24 430.714 - - 7 1 1 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 5 4 6 22 25 22 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132791 2 77557310 TG T 329 PASS LRRTM4 CCDS46346.1 r.? - - Del intronic D 77557310 77557318 1 12 323.035 - - 7 1 1 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 1 5 1 6 10 36 10 36 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760132950 2 78162080 CA C 360 PASS - - - - - Del - D 78162080 78162090 1 16 323.035 - - 9 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 4 3 13 18 13 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133063 2 78560904 TG T 350 PASS - - - - - Del - D 78560904 78560909 1 12 322.433 - - 4 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 1 5 2 5 36 30 36 30 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133210 2 79179271 TGA T 749 PASS - - - - - Del - D 79179271 79179278 2 56 697.501 - - 3 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 6 7 6 9 29 45 29 45 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133237 2 79231790 TA T 360 PASS - - - - - Del - D 79231790 79231799 1 15 322.433 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 4 3 4 26 19 26 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133284 2 79428553 G GA 420 PASS CTNNA2 CCDS42703.2 r.? - - Ins intronic I 79428553 79428560 1 14 372.66 - - 6 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 16 6 16 0 0 ./. 1 6 3 7 29 29 29 30 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133433 2 80009955 CA C 329 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 80009955 80009964 1 12 321.229 - - 8 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 5 1 6 1 20 19 20 19 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133570 2 80527741 T TTC 598 PASS CTNNA2 CCDS42703.2 r.? - - Ins intronic I 80527741 80527752 2 40 574.17 - - 5 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 4 7 7 9 17 22 17 22 7 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133591 2 80588709 C CA 480 PASS CTNNA2 CCDS42703.2 r.? - - Ins intronic I 80588709 80588717 1 25 425.897 - - 7 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 4 6 6 23 35 23 35 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133603 2 80615148 C CA 300 PASS CTNNA2 CCDS42703.2 r.? - - Ins intronic I 80615148 80615155 1 12 266.186 - - 6 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 15 9 0 0 ./. 2 3 2 3 25 14 26 15 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133771 2 81226453 AT A 300 PASS - - - - - Del - D 81226453 81226460 1 10 269.196 - - 6 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 1 4 3 25 18 25 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133775 2 81303103 GA G 300 PASS - - - - - Del - D 81303103 81303112 1 12 269.196 - - 8 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 2 3 2 24 24 24 24 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133820 2 81530406 CT C 389 PASS - - - - - Del - D 81530406 81530414 1 20 376.874 - - 7 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 3 4 3 34 26 34 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133870 2 81792024 TCAAA T 269 PASS - - - - - Del - D 81792024 81792031 4 12 269.196 - - 1 1 1 - - ./. 0 0 0 0 20 22 20 22 0 0 ./. 3 2 5 2 17 16 17 16 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133899 2 81967131 GA G 300 PASS - - - - - Del - D 81967131 81967140 1 12 268.594 - - 8 1 1 - - ./. 0 0 0 0 22 10 22 10 0 0 ./. 3 2 5 3 41 30 41 30 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760133942 2 82072390 CA C 370 PASS - - - - - Del - D 82072390 82072392 1 24 484.553 - - 1 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 7 3 9 28 35 28 35 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134056 2 82395114 CT C 300 PASS - - - - - Del - D 82395114 82395124 1 6 268.594 - - 9 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 0 5 0 5 6 26 6 26 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134086 2 82477366 ACT A 540 PASS - - - - - Del - D 82477366 82477369 2 30 482.747 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 5 5 6 29 36 29 36 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134101 2 82540894 TA T 360 PASS - - - - - Del - D 82540894 82540903 1 7 323.035 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 6 0 8 1 18 3 18 3 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134110 2 82623366 CT C 360 PASS - - - - - Del - D 82623366 82623374 1 15 323.035 - - 7 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 2 4 3 5 21 18 21 18 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134211 2 83106898 G GA 360 PASS - - - - - Ins - I 83106898 83106907 1 16 319.423 - - 8 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 3 3 4 23 23 23 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134263 2 83263496 TA T 360 PASS - - - - - Del - D 83263496 83263505 1 15 323.035 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 2 4 2 5 6 26 6 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134269 2 83295317 GT G 300 PASS - - - - - Del - D 83295317 83295326 1 10 269.196 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 1 4 1 23 18 23 18 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134278 2 83350911 CA C 300 PASS - - - - - Del - D 83350911 83350921 1 12 268.594 - - 9 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 2 3 2 3 6 21 6 21 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134332 2 83516294 GAC G 360 PASS - - - - - Del - D 83516294 83516308 2 12 321.831 - - 6 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 1 8 2 41 22 41 22 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134427 2 84059104 AT A 420 PASS - - - - - Del - D 84059104 84059113 1 20 376.874 - - 8 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 4 3 5 8 18 8 18 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134531 2 84587083 TA T 420 PASS - - - - - Del - D 84587083 84587093 1 20 374.466 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 4 3 5 22 25 22 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134632 2 85056051 TG T 300 PASS C2orf89 CCDS46349.1 r.? - - Del intronic D 85056051 85056057 1 12 269.196 - - 5 1 1 C2orf89|CCDS46349.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C2orf89|CCDS46349.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 2 3 3 6 20 34 20 34 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134706 2 85238812 AT A 360 PASS KCMF1 CCDS46350.1 r.? - - Del intronic D 85238812 85238822 1 12 323.035 - - 9 1 1 KCMF1|CCDS46350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCMF1|CCDS46350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 5 1 5 16 31 16 31 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134713 2 85249241 G GT 540 PASS KCMF1 CCDS46350.1 r.? - - Ins intronic I 85249241 85249250 1 28 476.124 - - 8 1 1 KCMF1|CCDS46350.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCMF1|CCDS46350.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 6 3 8 6 25 29 25 30 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134716 2 85266941 CT C 420 PASS KCMF1 CCDS46350.1 r.? - - Del intronic D 85266941 85266951 1 18 376.874 - - 9 1 1 KCMF1|CCDS46350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCMF1|CCDS46350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 2 5 3 7 22 27 22 27 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134794 2 85432814 AT A 360 PASS TCF7L1 CCDS1971.1 r.? - - Del intronic D 85432814 85432824 1 15 322.433 - - 9 1 1 TCF7L1|CCDS1971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF7L1|CCDS1971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 2 4 4 33 25 33 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134841 2 85517457 CT C 300 PASS TCF7L1 CCDS1971.1 r.? - - Del intronic D 85517457 85517462 1 10 267.992 - - 4 1 1 TCF7L1|CCDS1971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AC093162.1|ENST00000502432|r.2698delU|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 10 17 10 17 0 0 ./. 1 4 1 5 17 35 17 35 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134912 2 85695685 CT C 306 PASS - - - - - Del - D 85695685 85695695 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 2 4 2 5 22 35 22 35 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134926 2 85728489 AAG A 300 PASS - - - - - Del - D 85728489 85728501 2 12 268.594 - - 5 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 4 2 10 33 10 33 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760134934 2 85753822 A ACT 389 PASS - - - - - Ins - I 85753822 85753834 2 20 366.639 - - 5 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 3 5 5 28 31 28 31 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760135204 2 86490293 T TA 420 PASS REEP1 CCDS1989.1 r.? - - Ins intronic I 86490293 86490302 1 20 372.66 - - 8 1 1 REEP1|CCDS1989.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 REEP1|CCDS1989.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 18 14 0 0 ./. 3 4 3 5 32 19 32 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760135327 2 86914335 CA C 360 PASS VPS24 ENST00000409384 r.? - - Del intronic D 86914335 86914344 1 12 323.035 - - 8 1 1 VPS24|ENST00000409384|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 VPS24|ENST00000409384|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 1 7 3 37 23 37 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760135586 2 87816446 CT C 332 PASS - - - - - Del - D 87816446 87816456 1 24 430.112 - - 9 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 5 3 6 24 28 24 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760135632 2 88210770 CT C 360 PASS - - - - - Del - D 88210770 88210780 1 16 323.035 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 3 5 3 18 14 18 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760135650 2 88296690 AT A 300 PASS - - - - - Del - D 88296690 88296696 1 12 269.196 - - 5 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 4 3 19 21 19 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760135778 2 88695722 TA T 300 PASS - - - - - Del - D 88695722 88695732 1 6 269.196 - - 9 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 5 0 6 1 26 19 26 19 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760135876 2 89016197 CT C 660 PASS RPIA CCDS2004.2 r.? - - Del intronic D 89016197 89016205 1 40 592.231 - - 7 1 1 RPIA|CCDS2004.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPIA|CCDS2004.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 7 4 10 30 50 30 50 4 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760135888 2 89071205 C CA 270 PASS - - - - - Ins - I 89071205 89071212 1 50 692.083 - - 6 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 9 4 11 55 95 55 95 4 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760136654 2 91846434 T TG 375 PASS - - - - - Ins - I 91846434 91846444 1 20 360.619 - - 9 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 3 4 2 52 45 52 45 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760136967 2 92120082 AT A 366 PASS - - - - - Del - D 92120082 92120088 1 14 376.874 - - 5 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 6 1 7 2 41 24 41 24 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760137125 2 92304327 CT C 271 PASS - - - - - Del - D 92304327 92304335 1 12 269.196 - - 7 1 1 - - ./. 0 0 0 0 7 7 10 8 0 0 ./. 3 2 6 2 22 15 22 15 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760137417 2 95907694 GA G 300 PASS - - - - - Del - D 95907694 95907702 1 12 269.196 - - 7 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 3 2 4 30 23 30 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760137423 2 95940785 GTC G 360 PASS PROM2 CCDS2012.1 r.? - - Del intronic D 95940785 95940789 2 12 323.035 - - 1 1 1 PROM2|CCDS2012.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PROM2|CCDS2012.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 5 1 7 3 26 20 26 20 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760137476 2 96408724 AT A 360 PASS - - - - - Del - D 96408724 96408731 1 15 323.035 - - 6 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 6 6 26 21 26 21 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760137489 2 96484190 CA C 534 PASS - - - - - Del - D 96484190 96484196 1 28 484.553 - - 5 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 6 6 7 32 39 32 39 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760137664 2 96904608 CA C 360 PASS - - - - - Del - D 96904608 96904618 1 12 315.208 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 5 1 5 13 27 13 27 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760137715 2 97155332 CT C 269 PASS - - - - - Del - D 97155332 97155340 1 12 257.155 - - 7 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 4 2 23 15 23 15 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760137727 2 97193336 TG T 300 PASS - - - - - Del - D 97193336 97193342 1 12 267.992 - - 5 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 2 3 5 5 8 25 8 25 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760137729 2 97194979 TCTTC T 420 PASS - - - - - Del - D 97194979 97194989 4 18 376.874 - - 2 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 5 3 5 22 24 22 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760137766 2 97362483 CA C 360 PASS ENSG00000249715 CCDS4406.1 r.? - - Del intronic D 97362483 97362493 1 12 323.035 - - 9 1 1 ENSG00000249715|CCDS4406.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000249715|CCDS4406.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 1 5 3 20 22 20 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138033 2 98370871 CT C 300 PASS TMEM131 CCDS46368.1 r.? - - Del downstream D 98370871 98370881 1 12 268.594 - - 9 1 1 TMEM131|CCDS46368.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TMEM131|CCDS46368.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 2 4 3 31 13 31 13 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138067 2 98473895 GA G 540 PASS TMEM131 CCDS46368.1 r.? - - Del intronic D 98473895 98473903 1 28 484.553 - - 7 1 1 TMEM131|CCDS46368.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM131|CCDS46368.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 6 3 9 34 29 34 29 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138119 2 98681951 CT C 271 PASS - - - - - Del - D 98681951 98681958 1 12 269.196 - - 6 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 2 4 2 10 11 10 11 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138162 2 98800383 CT C 300 PASS VWA3B CCDS42718.1 r.? - - Del intronic D 98800383 98800391 1 10 269.196 - - 7 1 1 VWA3B|CCDS42718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VWA3B|CCDS42718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 1 4 3 4 20 33 20 33 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138335 2 99700108 TA T 360 PASS TSGA10 CCDS2037.1 r.? - - Del intronic D 99700108 99700114 1 15 323.035 - - 5 1 1 TSGA10|CCDS2037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSGA10|CCDS2037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 2 4 3 8 31 27 31 27 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138531 2 100166045 CA C 300 PASS AFF3 CCDS33258.1 r.5790delU c.? p.? Del 3'UTR variant D 100166045 100166055 1 12 269.196 - - 9 1 1 AFF3|CCDS33258.1|r.5790delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 AFF3|CCDS33258.1|r.5790delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 6 3 27 14 27 14 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138537 2 100185024 GA G 480 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100185024 100185034 1 21 430.714 - - 9 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 6 4 6 31 33 31 33 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138540 2 100193375 TG T 389 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100193375 100193382 1 20 376.874 - - 6 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 4 3 4 19 23 19 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138619 2 100395230 AT A 540 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100395230 100395238 1 30 484.553 - - 7 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 5 5 7 29 23 29 23 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138664 2 100530285 CA C 360 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100530285 100530295 1 15 323.035 - - 9 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 4 2 4 19 26 19 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138723 2 100871018 AT A 840 PASS - - - - - Del - D 100871018 100871026 1 48 753.749 - - 7 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 11 3 13 4 36 13 36 13 13 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138801 2 101201458 CCA C 420 PASS - - - - - Del - D 101201458 101201475 2 18 374.466 - - 8 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 5 2 5 6 28 27 28 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138873 2 101388550 CT C 300 PASS - - - - - Del - D 101388550 101388559 1 10 269.196 - - 8 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 1 4 2 5 23 33 23 33 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138988 2 101715843 CA C 280 PASS TBC1D8 CCDS46375.1 r.? - - Del intronic D 101715843 101715851 1 15 323.035 - - 7 1 1 TBC1D8|CCDS46375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D8|CCDS46375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 2 4 2 4 28 22 28 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760138996 2 101734202 AT A 412 PASS TBC1D8 CCDS46375.1 r.? - - Del intronic D 101734202 101734211 1 21 423.489 - - 8 1 1 TBC1D8|CCDS46375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D8|CCDS46375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 6 3 6 20 20 20 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139000 2 101738708 AT A 360 PASS TBC1D8 CCDS46375.1 r.? - - Del intronic D 101738708 101738715 1 12 323.035 - - 6 1 1 TBC1D8|CCDS46375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D8|CCDS46375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 1 5 3 21 16 21 16 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139037 2 101858588 CA C 297 PASS - - - - - Del - D 101858588 101858598 1 12 268.594 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 3 4 22 26 22 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139150 2 102105711 AT A 540 PASS - - - - - Del - D 102105711 102105721 1 24 484.553 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 7 5 8 14 34 14 34 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139162 2 102136750 CA C 540 PASS - - - - - Del - D 102136750 102136759 1 28 484.553 - - 8 1 1 - - ./. 0 0 0 0 1 14 1 14 0 0 ./. 6 3 7 3 27 20 27 20 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139167 2 102142742 GA G 300 PASS - - - - - Del - D 102142742 102142751 1 12 269.196 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 5 3 30 25 30 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139270 2 102363573 CT C 300 PASS MAP4K4 ENST00000425019 r.? - - Del intronic D 102363573 102363583 1 6 269.196 - - 9 1 1 MAP4K4|ENST00000425019|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP4K4|ENST00000425019|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 0 6 2 32 19 32 19 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139307 2 102497875 A AT 540 PASS MAP4K4 ENST00000425019 r.? - - Ins intronic I 102497875 102497884 1 24 478.532 - - 8 1 1 MAP4K4|ENST00000425019|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAP4K4|ENST00000425019|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 7 2 10 4 32 20 33 20 10 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139367 2 102771179 CA C 300 PASS IL1R1 CCDS2055.1 r.? - - Del intronic D 102771179 102771186 1 10 269.196 - - 6 1 1 IL1R1|CCDS2055.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IL1R1|CCDS2055.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 4 2 4 22 26 22 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139550 2 103545120 CA C 300 PASS - - - - - Del - D 103545120 103545126 1 6 269.196 - - 5 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 0 5 0 6 15 29 15 29 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139606 2 103792655 CT C 360 PASS - - - - - Del - D 103792655 103792664 1 12 323.035 - - 8 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 1 5 2 5 15 27 15 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139679 2 104147902 AT A 420 PASS - - - - - Del - D 104147902 104147908 1 18 376.272 - - 5 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 2 5 2 8 17 21 17 21 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139685 2 104161654 AT A 300 PASS - - - - - Del - D 104161654 104161664 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 4 2 4 7 12 7 12 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139713 2 104300056 A AT 300 PASS - - - - - Ins - I 104300056 104300062 1 10 266.186 - - 5 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 1 5 1 17 9 17 9 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139763 2 104549681 T TCA 300 PASS - - - - - Ins - I 104549681 104549691 2 6 263.175 - - 4 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 0 5 1 19 17 19 18 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139813 2 104832595 CA C 300 PASS - - - - - Del - D 104832595 104832604 1 12 268.594 - - 8 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 3 2 3 6 24 24 24 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139815 2 104836145 CA C 420 PASS - - - - - Del - D 104836145 104836155 1 8 376.272 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 0 7 0 9 0 28 0 28 0 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139862 2 104963082 CA C 300 PASS - - - - - Del - D 104963082 104963092 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 1 5 1 22 22 22 22 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139901 2 105070563 AT A 420 PASS - - - - - Del - D 105070563 105070572 1 20 375.67 - - 8 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 3 4 4 6 21 24 21 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139944 2 105310912 TA T 300 PASS - - - - - Del - D 105310912 105310920 1 10 269.196 - - 7 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 1 5 4 20 9 20 9 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139997 2 105497784 TA T 480 PASS - - - - - Del - D 105497784 105497792 1 25 428.305 - - 7 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 4 4 4 18 12 18 12 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760139998 2 105501506 CA C 300 PASS - - - - - Del - D 105501506 105501514 1 10 269.196 - - 7 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 1 4 1 28 23 28 23 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760140013 2 105561321 CT C 300 PASS - - - - - Del - D 105561321 105561331 1 12 268.594 - - 9 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 2 3 3 5 30 37 30 37 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760140125 2 105965882 A AT 300 PASS C2orf49 CCDS2068.1 r.? - - Ins downstream I 105965882 105965891 1 10 266.186 - - 8 1 1 C2orf49|CCDS2068.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 C2orf49|CCDS2068.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 7 17 7 17 0 0 ./. 1 4 2 4 32 18 32 18 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760140131 2 105982685 A AT 300 PASS FHL2 CCDS2070.1 r.? - - Ins intronic I 105982685 105982686 1 10 258.359 - - 0 1 1 FHL2|CCDS2070.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FHL2|CCDS2070.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 1 5 2 20 12 20 12 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760140204 2 106156268 TA T 300 PASS - - - - - Del - D 106156268 106156276 1 6 269.196 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 0 9 0 25 16 25 16 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760140443 2 106781979 AT A 300 PASS UXS1 CCDS46378.1 r.? - - Del intronic D 106781979 106781989 1 10 269.196 - - 9 1 1 UXS1|CCDS46378.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UXS1|CCDS46378.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 1 8 1 27 25 27 25 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760140606 2 107186582 T TC 300 PASS - - - - - Ins - I 107186582 107186591 1 12 266.186 - - 8 1 1 - - ./. 0 0 0 0 9 9 9 10 0 0 ./. 3 2 4 3 28 21 28 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760140613 2 107195819 CA C 420 PASS - - - - - Del - D 107195819 107195827 1 18 374.466 - - 7 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 2 5 3 5 40 37 40 37 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760140655 2 107264660 G GT 540 PASS - - - - - Ins - I 107264660 107264668 1 30 479.134 - - 7 1 1 - - ./. 0 0 0 0 12 15 13 15 0 0 ./. 4 5 5 6 31 40 32 40 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760140786 2 107913258 G GT 286 PASS - - - - - Ins - I 107913258 107913266 1 20 370.854 - - 7 1 1 - - ./. 0 0 0 0 9 18 9 19 0 0 ./. 4 3 5 5 24 35 24 35 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760140944 2 108611047 GA G 360 PASS SLC5A7 CCDS2074.1 r.? - - Del intronic D 108611047 108611057 1 12 321.831 - - 9 1 1 SLC5A7|CCDS2074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC5A7|CCDS2074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 5 1 5 3 30 27 30 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760141225 2 109424484 G GT 600 PASS CCDC138 CCDS2080.1 r.? - - Ins intronic I 109424484 109424491 1 27 530.565 - - 6 1 1 CCDC138|CCDS2080.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC138|CCDS2080.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 8 3 9 32 31 32 31 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760141600 2 110943096 AC A 300 PASS NPHP1 CCDS2086.1 r.? - - Del intronic D 110943096 110943102 1 12 269.196 - - 5 1 1 NPHP1|CCDS2086.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPHP1|CCDS2086.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 2 3 2 4 20 28 20 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760141643 2 111420856 CA C 360 PASS BUB1 CCDS33273.1 r.? - - Del intronic D 111420856 111420866 1 16 323.035 - - 9 1 1 BUB1|CCDS33273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BUB1|CCDS33273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 3 4 5 26 28 26 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760141671 2 111559793 T TC 360 PASS ACOXL CCDS42730.1 r.? - - Ins intronic I 111559793 111559802 1 15 319.423 - - 8 1 1 ACOXL|CCDS42730.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACOXL|CCDS42730.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 2 5 4 27 28 27 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760141709 2 111680896 CT C 480 PASS ACOXL CCDS42730.1 r.? - - Del intronic D 111680896 111680906 1 25 430.112 - - 9 1 1 ACOXL|CCDS42730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACOXL|CCDS42730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 4 6 7 27 23 27 23 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760141752 2 111786724 TAAG T 389 PASS ACOXL CCDS42730.1 r.? - - Del intronic D 111786724 111786731 3 8 375.67 - - 2 1 1 ACOXL|CCDS42730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACOXL|CCDS42730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 0 7 2 8 32 36 32 36 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760141773 2 111858828 CA C 420 PASS ACOXL CCDS46389.1 r.? - - Del intronic D 111858828 111858838 1 20 376.874 - - 9 1 1 ACOXL|CCDS46389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACOXL|CCDS46389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 3 5 5 30 26 30 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760142006 2 112749813 CT C 480 PASS MERTK CCDS2094.1 r.? - - Del intronic D 112749813 112749820 1 24 430.112 - - 6 1 1 MERTK|CCDS2094.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MERTK|CCDS2094.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 5 4 6 22 27 22 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760142053 2 112874268 TC T 300 PASS TMEM87B CCDS33275.1 r.2586delC c.? p.? Del 3'UTR variant D 112874268 112874276 1 12 269.196 - - 7 1 1 TMEM87B|CCDS33275.1|r.2586delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TMEM87B|CCDS33275.1|r.2586delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 2 4 3 22 20 22 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760142087 2 113019739 CA C 420 PASS - - - - - Del - D 113019739 113019749 1 20 376.272 - - 9 1 1 - - ./. 0 0 0 0 11 24 11 24 0 0 ./. 4 3 4 3 20 24 20 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760142208 2 113407595 AT A 540 PASS SLC20A1 CCDS2099.1 r.? - - Del intronic D 113407595 113407605 1 24 483.951 - - 9 1 1 SLC20A1|CCDS2099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC20A1|CCDS2099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 7 2 9 2 30 20 30 20 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760142252 2 113509219 CT C 300 PASS CKAP2L CCDS2100.1 r.? - - Del intronic D 113509219 113509228 1 12 269.196 - - 8 1 1 CKAP2L|CCDS2100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CKAP2L|CCDS2100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 3 2 3 7 14 7 14 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760142417 2 114017611 CT C 360 PASS PAX8 CCDS46398.1 r.? - - Del intronic D 114017611 114017621 1 15 322.433 - - 9 1 1 PAX8|CCDS46398.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAX8|CCDS46398.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 4 4 5 27 26 27 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760142422 2 114031883 CT C 449 PASS PAX8 CCDS46398.1 r.? - - Del intronic D 114031883 114031893 1 21 430.714 - - 9 1 1 PAX8|CCDS46398.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAX8|CCDS46398.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 6 3 9 22 29 22 29 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760142751 2 115031179 CA C 540 PASS - - - - - Del - D 115031179 115031189 1 10 482.747 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 9 0 9 1 22 20 22 20 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143202 2 116683789 AT A 360 PASS - - - - - Del - D 116683789 116683797 1 15 323.035 - - 7 1 1 - - ./. 0 0 0 0 9 21 9 21 0 0 ./. 4 2 5 2 24 26 24 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143238 2 116835802 T TAC 420 PASS - - - - - Ins - I 116835802 116835821 2 20 366.639 - - 9 1 1 - - ./. 0 0 0 0 11 14 12 14 0 0 ./. 4 3 6 3 33 25 34 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143317 2 117092174 A AT 540 PASS - - - - - Ins - I 117092174 117092180 1 30 476.124 - - 5 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 5 4 7 7 45 23 45 24 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143319 2 117100418 G GT 420 PASS - - - - - Ins - I 117100418 117100426 1 18 372.66 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 12 0 0 ./. 2 5 2 7 7 28 7 28 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143462 2 117712255 A AT 420 PASS - - - - - Ins - I 117712255 117712264 1 14 372.058 - - 8 1 1 - - ./. 0 0 0 0 16 13 16 14 0 0 ./. 1 6 1 6 10 19 10 19 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143503 2 117885186 GA G 360 PASS - - - - - Del - D 117885186 117885196 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 2 4 2 22 14 22 14 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143576 2 118176411 AT A 449 PASS - - - - - Del - D 118176411 118176419 1 24 428.907 - - 7 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 3 6 3 23 34 23 34 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143584 2 118215170 GT G 418 PASS - - - - - Del - D 118215170 118215180 1 24 430.714 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 5 3 6 16 21 16 21 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143720 2 118705842 TA T 300 PASS CCDC93 CCDS2121.2 r.? - - Del intronic D 118705842 118705849 1 12 267.992 - - 6 1 1 CCDC93|CCDS2121.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC93|CCDS2121.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 3 2 3 36 28 36 28 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143763 2 118857026 CT C 480 PASS INSIG2 CCDS2122.1 r.? - - Del intronic D 118857026 118857035 1 21 430.714 - - 8 1 1 INSIG2|CCDS2122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INSIG2|CCDS2122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 6 2 6 16 24 16 24 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143772 2 118884919 CT C 277 PASS - - - - - Del - D 118884919 118884929 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 5 6 32 26 32 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143885 2 119346094 TC T 480 PASS - - - - - Del - D 119346094 119346099 1 9 430.714 - - 4 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 0 8 0 8 0 34 0 34 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760143925 2 119527272 TA T 420 PASS - - - - - Del - D 119527272 119527282 1 14 376.874 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 1 6 2 24 27 24 27 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144025 2 119898246 TG T 600 PASS - - - - - Del - D 119898246 119898254 1 35 538.392 - - 7 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 4 6 4 8 25 33 25 33 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144148 2 120271534 A AT 480 PASS SCTR CCDS2127.1 r.? - - Ins intronic I 120271534 120271541 1 24 424.693 - - 6 1 1 SCTR|CCDS2127.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCTR|CCDS2127.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 3 6 4 34 28 34 28 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144257 2 120615109 C CA 300 PASS PTPN4 CCDS2129.1 r.? - - Ins intronic I 120615109 120615118 1 10 264.38 - - 8 1 1 PTPN4|CCDS2129.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPN4|CCDS2129.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 5 14 5 0 0 ./. 4 1 5 2 16 14 17 14 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144396 2 121149844 C CT 327 PASS - - - - - Ins - I 121149844 121149848 1 18 372.66 - - 3 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 5 3 6 33 28 33 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144448 2 121360887 AT A 300 PASS - - - - - Del - D 121360887 121360896 1 10 269.196 - - 8 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 4 1 5 2 33 7 33 7 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144557 2 121727287 GC G 360 PASS GLI2 CCDS33283.1 r.? - - Del intronic D 121727287 121727293 1 15 322.433 - - 5 1 1 GLI2|CCDS33283.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLI2|CCDS33283.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 4 2 5 3 25 23 25 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144637 2 121986922 C CT 360 PASS TFCP2L1 CCDS2134.1 r.? - - Ins intronic I 121986922 121986929 1 7 319.423 - - 6 1 1 TFCP2L1|CCDS2134.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TFCP2L1|CCDS2134.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 0 6 1 7 18 27 18 27 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144671 2 122127409 AT A 420 PASS CLASP1 ENST00000263710 r.? - - Del intronic D 122127409 122127419 1 8 376.874 - - 9 1 1 CLASP1|ENST00000263710|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLASP1|ENST00000263710|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 7 0 8 0 32 11 32 11 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144679 2 122173747 TA T 300 PASS CLASP1 ENST00000263710 r.? - - Del intronic D 122173747 122173756 1 6 269.196 - - 8 1 1 CLASP1|ENST00000263710|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLASP1|ENST00000263710|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 0 6 0 36 14 36 14 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144713 2 122368088 AGAG A 269 PASS ENSG00000228632 ENST00000417150 r.151_153delGAG c.151_153delGAG p.E55delE Del inframe D 122368088 122368104 3 12 258.359 - - 5 1 1 ENSG00000228632|ENST00000417150|r.151_153delGAG|c.151_153delGAG|p.E55delE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ENSG00000228632|ENST00000417150|r.151_153delGAG|c.151_153delGAG|p.E55delE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 3 4 7 24 38 24 38 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144716 2 122382315 G GT 360 PASS CLASP1 ENST00000263710 r.? - - Ins intronic I 122382315 122382323 1 15 319.423 - - 7 1 1 CLASP1|ENST00000263710|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CLASP1|ENST00000263710|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 15 7 15 0 0 ./. 2 4 6 5 26 25 27 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144790 2 122632372 CT C 420 PASS - - - - - Del - D 122632372 122632382 1 18 376.874 - - 9 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 5 3 6 13 21 13 21 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760144994 2 123388423 GA G 480 PASS - - - - - Del - D 123388423 123388433 1 21 430.112 - - 9 1 1 - - ./. 0 0 0 0 10 23 10 23 0 0 ./. 6 2 8 4 26 27 26 27 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145014 2 123464661 TA T 360 PASS - - - - - Del - D 123464661 123464670 1 16 322.433 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 3 4 3 30 23 30 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145071 2 123707905 GT G 329 PASS - - - - - Del - D 123707905 123707915 1 7 322.433 - - 9 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 0 6 2 7 11 27 11 27 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145195 2 124093834 AT A 540 PASS - - - - - Del - D 124093834 124093843 1 24 484.553 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 7 2 8 2 30 19 30 19 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145277 2 124362042 GA G 300 PASS - - - - - Del - D 124362042 124362051 1 12 269.196 - - 8 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 3 2 4 5 25 26 25 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145336 2 124569456 TA T 300 PASS - - - - - Del - D 124569456 124569462 1 12 267.992 - - 5 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 4 2 25 18 25 18 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145408 2 124853084 TA T 329 PASS CNTNAP5 CCDS46401.1 r.? - - Del intronic D 124853084 124853094 1 16 323.035 - - 9 1 1 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 3 4 3 29 23 29 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145477 2 125128552 C CA 420 PASS CNTNAP5 CCDS46401.1 r.? - - Ins intronic I 125128552 125128561 1 20 372.66 - - 8 1 1 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 4 3 5 21 35 21 35 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145508 2 125290642 AC A 360 PASS CNTNAP5 CCDS46401.1 r.? - - Del intronic D 125290642 125290649 1 15 323.035 - - 6 1 1 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 4 3 6 23 19 23 19 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145604 2 125570634 GT G 300 PASS CNTNAP5 CCDS46401.1 r.? - - Del intronic D 125570634 125570643 1 6 267.992 - - 8 1 1 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 19 8 19 0 0 ./. 0 5 3 8 33 31 33 31 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145666 2 125790922 AT A 457 PASS - - - - - Del - D 125790922 125790932 1 21 430.714 - - 9 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 6 2 7 5 22 36 22 36 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145770 2 126335811 AT A 360 PASS - - - - - Del - D 126335811 126335820 1 7 322.433 - - 8 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 6 0 6 0 28 3 28 3 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145784 2 126401628 GT G 600 PASS - - - - - Del - D 126401628 126401635 1 36 538.392 - - 6 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 5 5 8 31 38 31 38 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760145796 2 126448324 GA G 300 PASS - - - - - Del - D 126448324 126448333 1 12 268.594 - - 8 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 2 3 2 3 20 24 20 24 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760146117 2 127930643 GA G 300 PASS - - - - - Del - D 127930643 127930652 1 10 269.196 - - 8 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 1 4 5 5 25 21 25 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760146206 2 128123671 TC T 420 PASS MAP3K2 CCDS46404.1 r.? - - Del intronic D 128123671 128123674 1 20 376.874 - - 2 1 1 MAP3K2|CCDS46404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAP3K2|CCDS46404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 4 6 5 36 35 36 35 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760146276 2 128356866 GT G 360 PASS MYO7B CCDS46405.1 r.? - - Del intronic D 128356866 128356875 1 15 323.035 - - 8 1 1 MYO7B|CCDS46405.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO7B|CCDS46405.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 9 20 9 0 0 ./. 2 4 3 5 29 20 29 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760146287 2 128424872 G GA 300 PASS LIMS2 CCDS2147.1 r.? - - Ins upstream I 128424872 128424880 1 10 265.584 - - 7 1 1 LIMS2|CCDS2147.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 LIMS2|ENST00000409455|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 4 1 6 27 28 27 28 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760146326 2 128596342 CA C 329 PASS - - - - - Del - D 128596342 128596351 1 12 318.219 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 1 5 3 6 22 27 22 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760146331 2 128608836 T TA 360 PASS POLR2D CCDS2151.1 r.? - - Ins intronic I 128608836 128608844 1 12 318.821 - - 7 1 1 POLR2D|CCDS2151.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 POLR2D|CCDS2151.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 1 7 2 25 15 25 15 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760146541 2 129195320 AT A 360 PASS - - - - - Del - D 129195320 129195330 1 16 322.433 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 4 3 24 24 24 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760146763 2 129843014 C CT 480 PASS - - - - - Ins - I 129843014 129843017 1 25 425.897 - - 2 1 1 - - ./. 0 0 0 0 18 13 18 14 0 0 ./. 4 4 5 5 25 15 25 15 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760146784 2 129927619 GA G 480 PASS - - - - - Del - D 129927619 129927628 1 25 430.714 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 4 5 4 21 29 21 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760146836 2 130147461 AT A 300 PASS - - - - - Del - D 130147461 130147470 1 10 266.788 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 1 6 1 17 26 17 26 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760146953 2 130541848 AT A 480 PASS - - - - - Del - D 130541848 130541857 1 24 428.305 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 3 6 4 35 23 35 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760147345 2 132300201 C CT 360 PASS - - - - - Ins - I 132300201 132300210 1 12 319.423 - - 8 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 5 1 6 1 19 15 20 15 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760147460 2 132618977 CT C 252 PASS - - - - - Del - D 132618977 132618987 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 3 4 37 20 37 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760147657 2 132881656 GT G 260 PASS - - - - - Del - D 132881656 132881665 1 12 269.196 - - 8 1 - - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 2 3 26 29 26 29 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760148185 2 133360889 TA T 329 PASS GPR39 CCDS2170.1 r.? - - Del intronic D 133360889 133360898 1 15 323.035 - - 8 1 1 GPR39|CCDS2170.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR39|CCDS2170.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 4 2 5 16 20 16 20 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760148221 2 133498434 GA G 300 PASS NCKAP5 CCDS46418.1 r.? - - Del intronic D 133498434 133498444 1 10 268.594 - - 9 1 1 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 1 6 1 28 12 28 12 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760148365 2 134123715 A AT 420 PASS NCKAP5 CCDS46418.1 r.? - - Ins intronic I 134123715 134123724 1 8 372.66 - - 8 1 1 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 0 7 0 10 17 35 17 35 0 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760148460 2 134586602 GA G 360 PASS - - - - - Del - D 134586602 134586609 1 12 323.035 - - 6 1 1 - - ./. 0 0 0 0 8 2 8 2 0 0 ./. 5 1 7 1 25 3 25 3 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760148535 2 134764369 CA C 420 PASS - - - - - Del - D 134764369 134764377 1 20 376.874 - - 7 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 4 4 4 32 28 32 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760148699 2 135241799 GA G 540 PASS TMEM163 CCDS2172.1 r.? - - Del intronic D 135241799 135241809 1 30 484.553 - - 9 1 1 TMEM163|CCDS2172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM163|CCDS2172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 23 7 23 0 0 ./. 5 4 6 4 27 24 27 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760148915 2 135920280 AATTT A 300 PASS RAB3GAP1 CCDS33294.1 r.? - - Del intronic D 135920280 135920290 4 10 269.196 - - 2 1 1 RAB3GAP1|CCDS33294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB3GAP1|CCDS33294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 1 4 1 16 9 16 9 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760148998 2 136194008 C CA 420 PASS ZRANB3 CCDS46419.1 r.? - - Ins intronic I 136194008 136194014 1 14 372.66 - - 5 1 1 ZRANB3|CCDS46419.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZRANB3|CCDS46419.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 6 1 8 2 24 31 24 32 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760149362 2 137284862 TC T 420 PASS - - - - - Del - D 137284862 137284868 1 20 376.874 - - 5 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 4 4 5 34 34 34 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760149383 2 137379728 G GT 540 PASS - - - - - Ins - I 137379728 137379735 1 18 479.134 - - 6 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 8 1 11 4 43 20 43 21 11 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760149467 2 137635008 GA G 480 PASS THSD7B ENST00000409968 r.? - - Del intronic D 137635008 137635016 1 21 428.907 - - 7 1 1 THSD7B|ENST00000409968|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 THSD7B|ENST00000409968|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 6 2 7 22 27 22 27 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760149625 2 138082089 C CA 300 PASS THSD7B ENST00000409968 r.? - - Ins intronic I 138082089 138082099 1 6 265.584 - - 9 1 1 THSD7B|ENST00000409968|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 THSD7B|ENST00000409968|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 0 5 2 8 17 29 17 29 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760149704 2 138375607 GT G 360 PASS THSD7B ENST00000409968 r.? - - Del intronic D 138375607 138375614 1 15 323.035 - - 6 1 1 THSD7B|ENST00000409968|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THSD7B|ENST00000409968|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 2 5 4 31 28 31 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760149756 2 138473693 GC G 412 PASS - - - - - Del - D 138473693 138473699 1 18 374.466 - - 5 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 2 5 2 25 23 25 23 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760149925 2 139070063 GA G 360 PASS - - - - - Del - D 139070063 139070073 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 4 4 29 24 29 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760149956 2 139206995 TA T 360 PASS - - - - - Del - D 139206995 139207004 1 15 321.229 - - 8 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 4 2 6 3 24 14 24 14 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150028 2 139459891 A AT 300 PASS NXPH2 CCDS46421.1 r.? - - Ins intronic I 139459891 139459896 1 12 266.186 - - 4 1 1 NXPH2|CCDS46421.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NXPH2|CCDS46421.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 3 3 26 21 26 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150170 2 139968584 TA T 329 PASS - - - - - Del - D 139968584 139968593 1 20 373.262 - - 8 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 4 3 7 20 27 20 27 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150192 2 140037125 C CA 300 PASS - - - - - Ins - I 140037125 140037132 1 12 264.982 - - 6 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 2 3 2 3 19 23 19 24 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150195 2 140045165 GA G 300 PASS - - - - - Del - D 140045165 140045174 1 12 269.196 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 4 4 26 14 26 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150376 2 140630394 CA C 420 PASS - - - - - Del - D 140630394 140630401 1 18 373.262 - - 6 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 5 4 7 25 30 25 30 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150383 2 140659777 CT C 360 PASS - - - - - Del - D 140659777 140659786 1 16 323.035 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 3 4 5 24 24 24 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150453 2 140854158 AT A 300 PASS - - - - - Del - D 140854158 140854166 1 10 269.196 - - 7 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 1 4 1 4 4 18 4 18 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150455 2 140861931 GT G 298 PASS - - - - - Del - D 140861931 140861940 1 7 323.035 - - 8 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 0 6 0 6 5 21 5 21 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150540 2 141125642 TA T 300 PASS LRP1B CCDS2182.1 r.? - - Del intronic D 141125642 141125650 1 10 269.196 - - 7 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 1 4 1 7 8 26 8 26 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150597 2 141385944 C CA 420 PASS LRP1B CCDS2182.1 r.? - - Ins intronic I 141385944 141385953 1 20 357.006 - - 8 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 7 18 7 0 0 ./. 3 4 3 5 23 27 23 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150655 2 141585673 CA C 387 PASS LRP1B CCDS2182.1 r.? - - Del intronic D 141585673 141585683 1 24 430.112 - - 9 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 5 4 6 22 24 22 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150757 2 141866892 CTCTT C 480 PASS LRP1B CCDS2182.1 r.? - - Del intronic D 141866892 141866898 4 25 430.714 - - 1 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 4 4 4 4 19 32 19 32 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760150873 2 142153721 CA C 509 PASS LRP1B CCDS2182.1 r.? - - Del intronic D 142153721 142153730 1 30 484.553 - - 8 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 5 5 6 24 33 24 33 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151027 2 142479034 GT G 300 PASS LRP1B CCDS2182.1 r.? - - Del intronic D 142479034 142479042 1 10 269.196 - - 7 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 1 4 1 16 23 16 23 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151052 2 142532882 A AT 360 PASS LRP1B CCDS2182.1 r.? - - Ins intronic I 142532882 142532888 1 16 319.423 - - 5 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 13 10 0 0 ./. 3 3 3 4 29 21 29 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151093 2 142663832 C CA 360 PASS LRP1B CCDS2182.1 r.? - - Ins intronic I 142663832 142663842 1 16 318.821 - - 9 1 - LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 3 3 7 2 28 23 28 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151334 2 143634231 TA T 480 PASS KYNU CCDS2183.1 r.? - - Del upstream D 143634231 143634240 1 21 430.714 - - 8 1 1 KYNU|CCDS2183.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KYNU|CCDS2183.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 6 3 7 25 26 25 26 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151371 2 143775731 A AT 420 PASS KYNU CCDS2183.1 r.? - - Ins intronic I 143775731 143775737 1 20 372.66 - - 5 1 1 KYNU|CCDS2183.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KYNU|CCDS2183.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 4 4 5 24 24 24 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151437 2 144095308 TA T 600 PASS ARHGAP15 CCDS2184.1 r.? - - Del intronic D 144095308 144095318 1 32 538.392 - - 9 1 1 ARHGAP15|CCDS2184.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP15|CCDS2184.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 7 4 8 22 35 22 35 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151442 2 144103132 AT A 540 PASS ARHGAP15 CCDS2184.1 r.? - - Del intronic D 144103132 144103142 1 30 483.951 - - 9 1 1 ARHGAP15|CCDS2184.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP15|CCDS2184.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 5 5 5 30 22 30 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151544 2 144404605 CA C 360 PASS ARHGAP15 CCDS2184.1 r.? - - Del intronic D 144404605 144404613 1 15 321.831 - - 7 1 1 ARHGAP15|CCDS2184.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP15|CCDS2184.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 4 4 6 27 26 27 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151684 2 144980217 CA C 291 PASS GTDC1 CCDS33300.1 r.? - - Del intronic D 144980217 144980226 1 16 322.433 - - 8 1 1 GTDC1|CCDS33300.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GTDC1|CCDS33300.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 4 3 30 18 30 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151685 2 144994464 TG T 360 PASS GTDC1 CCDS33300.1 r.? - - Del intronic D 144994464 144994469 1 12 323.035 - - 4 1 1 GTDC1|CCDS33300.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GTDC1|CCDS33300.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 1 5 3 5 25 21 25 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151702 2 145075378 CT C 569 PASS GTDC1 ENST00000417450 r.? - - Del intronic D 145075378 145075388 1 32 538.392 - - 9 1 1 GTDC1|ENST00000417450|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GTDC1|ENST00000417450|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 7 5 8 15 20 15 20 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151716 2 145142962 AT A 360 PASS ZEB2 CCDS2186.1 r.? - - Del downstream D 145142962 145142969 1 7 323.035 - - 6 1 1 ZEB2|CCDS2186.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZEB2|CCDS2186.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 21 16 21 16 0 0 ./. 6 0 7 0 28 4 28 4 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760151956 2 145915684 CA C 360 PASS - - - - - Del - D 145915684 145915693 1 15 322.433 - - 8 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 2 6 2 31 21 31 21 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760152052 2 146389577 CTATT C 300 PASS - - - - - Del - D 146389577 146389583 4 12 269.196 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 5 2 28 19 28 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760152181 2 146898664 AT A 269 PASS - - - - - Del - D 146898664 146898673 1 10 269.196 - - 8 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 1 4 1 5 25 20 25 20 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760152228 2 147102625 AT A 360 PASS - - - - - Del - D 147102625 147102634 1 12 323.035 - - 8 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 1 5 1 7 7 24 7 24 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760152233 2 147134555 GT G 480 PASS - - - - - Del - D 147134555 147134565 1 25 430.714 - - 9 1 1 - - ./. 0 0 0 0 4 12 4 12 0 0 ./. 4 4 5 4 39 33 39 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760152398 2 147892998 GT G 420 PASS - - - - - Del - D 147892998 147893004 1 20 376.874 - - 5 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 3 4 6 5 23 35 23 35 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760152466 2 148260972 AT A 420 PASS - - - - - Del - D 148260972 148260982 1 18 376.874 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 5 2 8 17 23 17 23 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760152563 2 148572967 TA T 300 PASS - - - - - Del - D 148572967 148572976 1 12 269.196 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 5 6 20 26 20 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760152604 2 148700367 AC A 360 PASS ORC4L CCDS2187.1 r.? - - Del intronic D 148700367 148700370 1 12 321.229 - - 2 1 1 ORC4L|CCDS2187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ORC4L|CCDS2187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 1 5 1 7 5 28 5 28 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760152676 2 148935724 CT C 300 PASS MBD5 CCDS33302.1 r.? - - Del intronic D 148935724 148935734 1 12 269.196 - - 9 1 1 MBD5|CCDS33302.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MBD5|CCDS33302.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 5 17 25 17 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760152764 2 149176943 ATTC A 269 PASS MBD5 CCDS33302.1 r.? - - Del intronic D 149176943 149176951 3 12 269.196 - - 2 1 1 MBD5|CCDS33302.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MBD5|CCDS33302.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 2 3 2 21 22 21 22 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153005 2 150129783 CA C 269 PASS - - - - - Del - D 150129783 150129791 1 10 267.992 - - 7 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 1 5 1 22 20 22 20 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153118 2 150511335 GA G 360 PASS - - - - - Del - D 150511335 150511345 1 16 323.035 - - 9 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 3 3 5 6 19 33 19 33 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153150 2 150578871 AT A 540 PASS - - - - - Del - D 150578871 150578879 1 24 479.736 - - 7 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 2 7 2 7 20 38 20 38 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153219 2 150748474 CT C 360 PASS - - - - - Del - D 150748474 150748480 1 16 323.035 - - 5 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 3 3 3 13 31 13 31 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153230 2 150767697 CA C 300 PASS - - - - - Del - D 150767697 150767705 1 10 269.196 - - 7 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 1 7 1 35 19 35 19 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153489 2 151784482 GA G 420 PASS - - - - - Del - D 151784482 151784491 1 20 376.874 - - 8 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 4 3 6 26 21 26 21 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153540 2 151932626 TA T 300 PASS - - - - - Del - D 151932626 151932633 1 12 269.196 - - 6 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 2 5 2 33 26 33 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153549 2 151943133 AT A 300 PASS - - - - - Del - D 151943133 151943141 1 10 268.594 - - 7 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 4 2 5 20 30 20 30 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153579 2 152003889 CT C 540 PASS - - - - - Del - D 152003889 152003897 1 18 479.736 - - 7 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 8 1 9 3 28 24 28 24 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153663 2 152186375 C CA 449 PASS - - - - - Ins - I 152186375 152186383 1 16 425.897 - - 7 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 7 1 7 1 40 5 40 5 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153823 2 152760604 GA G 360 PASS CACNB4 CCDS46428.1 r.? - - Del intronic D 152760604 152760612 1 16 321.831 - - 7 1 1 CACNB4|CCDS46428.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNB4|CCDS46428.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 3 3 3 3 24 25 24 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153897 2 152938178 CA C 300 PASS CACNB4 CCDS46426.1 r.? - - Del intronic D 152938178 152938183 1 6 269.196 - - 4 1 1 CACNB4|CCDS46426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNB4|CCDS46426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 5 0 5 0 19 22 19 22 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153903 2 152960654 TA T 420 PASS - - - - - Del - D 152960654 152960663 1 20 376.272 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 4 8 22 35 22 35 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153935 2 153042850 C CT 300 PASS - - - - - Ins - I 153042850 153042858 1 12 266.186 - - 7 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 7 3 34 10 35 10 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153943 2 153077774 AT A 420 PASS - - - - - Del - D 153077774 153077782 1 20 376.874 - - 7 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 4 3 6 4 40 29 40 29 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760153956 2 153114650 TTC T 360 PASS - - - - - Del - D 153114650 153114670 2 7 321.831 - - 9 1 - - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 6 0 6 0 27 14 27 14 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154265 2 153972702 GTA G 480 PASS - - - - - Del - D 153972702 153972714 2 21 430.714 - - 5 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 6 3 6 20 17 20 17 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154302 2 154096298 CT C 360 PASS - - - - - Del - D 154096298 154096308 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 2 8 2 34 17 34 17 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154353 2 154314158 TA T 300 PASS - - - - - Del - D 154314158 154314167 1 6 269.196 - - 8 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 0 8 0 42 9 42 9 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154420 2 154549504 TA T 360 PASS - - - - - Del - D 154549504 154549512 1 15 322.433 - - 7 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 4 5 4 38 23 38 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154421 2 154550462 C CA 360 PASS - - - - - Ins - I 154550462 154550472 1 12 319.423 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 1 5 3 30 18 31 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154626 2 155230441 AT A 720 PASS GALNT13 CCDS2199.1 r.? - - Del intronic D 155230441 155230448 1 49 646.07 - - 6 1 1 GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 6 6 7 7 23 31 23 31 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154689 2 155453466 AT A 300 PASS - - - - - Del - D 155453466 155453475 1 12 267.992 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 3 3 3 17 22 17 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154741 2 155677720 A AT 300 PASS KCNJ3 CCDS2200.1 r.? - - Ins intronic I 155677720 155677728 1 12 266.186 - - 7 1 1 KCNJ3|CCDS2200.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNJ3|CCDS2200.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 3 3 25 24 25 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154817 2 155944649 GT G 420 PASS - - - - - Del - D 155944649 155944658 1 20 376.874 - - 8 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 3 4 3 24 12 24 12 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154846 2 156130098 GT G 300 PASS - - - - - Del - D 156130098 156130108 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 5 21 5 21 0 0 ./. 3 2 4 4 20 26 20 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154922 2 156466124 T TA 360 PASS - - - - - Ins - I 156466124 156466133 1 12 319.423 - - 8 1 1 - - ./. 0 0 0 0 12 19 12 20 0 0 ./. 1 5 2 6 12 35 12 35 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760154970 2 156679403 CA C 420 PASS - - - - - Del - D 156679403 156679413 1 14 376.874 - - 9 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 6 1 7 1 27 17 27 17 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760155034 2 156903600 C CA 600 PASS - - - - - Ins - I 156903600 156903607 1 32 532.371 - - 6 1 1 - - ./. 0 0 0 0 18 24 18 25 0 0 ./. 7 3 9 5 31 38 31 39 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760155133 2 157274950 TA T 300 PASS - - - - - Del - D 157274950 157274959 1 12 268.594 - - 8 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 2 4 11 22 11 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760155162 2 157341007 GT G 360 PASS GPD2 CCDS2202.1 r.? - - Del intronic D 157341007 157341016 1 12 323.035 - - 8 1 1 GPD2|CCDS2202.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPD2|CCDS2202.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 1 5 1 27 13 27 13 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760155254 2 157636806 GT G 269 PASS - - - - - Del - D 157636806 157636816 1 12 266.788 - - 9 1 - - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 3 3 20 25 20 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760155259 2 157641110 CT C 480 PASS - - - - - Del - D 157641110 157641119 1 25 430.714 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 4 4 5 7 26 7 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760155267 2 157689513 AC A 420 PASS - - - - - Del - D 157689513 157689522 1 20 376.874 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 4 3 4 26 16 26 16 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760155334 2 157878930 AT A 300 PASS - - - - - Del - D 157878930 157878940 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 3 4 4 30 22 30 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760155353 2 157990185 GA G 300 PASS - - - - - Del - D 157990185 157990194 1 12 269.196 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 3 3 4 30 28 30 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760155614 2 159107275 AT A 277 PASS CCDC148 CCDS33304.1 r.1565+8dela c.1251+8dela p.? Del splice region D 159107275 159107282 1 12 269.196 - - 6 1 1 CCDC148|CCDS33304.1|r.1565+8dela|c.1251+8dela|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 CCDC148|CCDS33304.1|r.1565+8dela|c.1251+8dela|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 4 3 34 32 34 32 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760155935 2 159948492 GTA G 360 PASS TANC1 CCDS42766.1 r.? - - Del intronic D 159948492 159948496 2 15 319.423 - - 1 1 1 TANC1|CCDS42766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TANC1|CCDS42766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 3 5 16 30 16 30 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760155942 2 159957292 AT A 480 PASS TANC1 CCDS42766.1 r.? - - Del intronic D 159957292 159957301 1 25 430.714 - - 8 1 1 TANC1|CCDS42766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TANC1|CCDS42766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 4 4 6 5 27 26 27 26 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760156228 2 160769371 ATG A 300 PASS - - - - - Del - D 160769371 160769385 2 12 269.196 - - 6 1 - - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 3 4 4 24 15 24 15 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760156243 2 160828894 TA T 420 PASS PLA2R1 CCDS33309.1 r.? - - Del intronic D 160828894 160828901 1 18 376.874 - - 6 1 1 PLA2R1|CCDS33309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLA2R1|CCDS33309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 5 2 5 17 22 17 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760156281 2 160946570 CT C 450 PASS - - - - - Del - D 160946570 160946578 1 21 430.714 - - 7 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 6 3 6 25 28 25 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760156323 2 161089970 G GA 300 PASS - - - - - Ins - I 161089970 161089979 1 12 266.186 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 2 4 3 28 28 28 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760156463 2 161500002 A AT 420 PASS - - - - - Ins - I 161500002 161500008 1 20 372.66 - - 5 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 3 9 5 22 38 22 39 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760156749 2 162338866 CA C 300 PASS - - - - - Del - D 162338866 162338875 1 6 269.196 - - 8 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 5 0 11 3 30 19 30 19 11 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760156897 2 163111099 AT A 420 PASS - - - - - Del - D 163111099 163111107 1 20 376.272 - - 7 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 3 5 5 28 28 28 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760156913 2 163276588 C CA 540 PASS KCNH7 CCDS2219.1 r.? - - Ins intronic I 163276588 163276596 1 28 478.532 - - 7 1 1 KCNH7|CCDS2219.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH7|CCDS2219.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 6 5 6 29 24 29 24 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760156914 2 163286549 CT C 300 PASS KCNH7 CCDS2219.1 r.? - - Del intronic D 163286549 163286559 1 10 269.196 - - 9 1 1 KCNH7|CCDS2219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH7|CCDS2219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 1 6 1 26 4 26 4 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760156935 2 163503251 CA C 269 PASS KCNH7 CCDS2219.1 r.? - - Del intronic D 163503251 163503259 1 10 269.196 - - 7 1 1 KCNH7|CCDS2219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH7|CCDS2219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 4 2 5 31 28 31 28 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760157111 2 164376641 CT C 300 PASS - - - - - Del - D 164376641 164376650 1 10 269.196 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 4 1 6 25 27 25 27 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760157237 2 164964328 CT C 480 PASS - - - - - Del - D 164964328 164964336 1 21 430.714 - - 7 1 1 - - ./. 0 0 0 0 24 15 24 15 0 0 ./. 6 2 6 2 23 2 23 2 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760157250 2 165016165 GT G 420 PASS - - - - - Del - D 165016165 165016175 1 18 375.67 - - 9 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 2 5 3 5 18 16 18 16 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760157261 2 165054055 CT C 300 PASS - - - - - Del - D 165054055 165054065 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 4 2 4 31 30 31 30 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760157281 2 165151717 G GA 300 PASS - - - - - Ins - I 165151717 165151725 1 12 266.186 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 3 3 13 24 13 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760157333 2 165367171 CA C 329 PASS GRB14 CCDS2222.1 r.? - - Del intronic D 165367171 165367180 1 16 321.831 - - 8 1 1 GRB14|CCDS2222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRB14|CCDS2222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 5 7 23 27 23 27 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760157474 2 165873024 GT G 420 PASS - - - - - Del - D 165873024 165873031 1 20 376.874 - - 6 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 3 4 5 6 22 30 22 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760157519 2 166102869 GT G 480 PASS SCN2A CCDS33314.1 r.? - - Del intronic D 166102869 166102878 1 24 430.714 - - 8 1 1 SCN2A|CCDS33314.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SCN2A|CCDS33314.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 5 4 5 33 29 33 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760158001 2 167586907 T TA 300 PASS - - - - - Ins - I 167586907 167586913 1 12 265.584 - - 5 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 4 2 18 30 18 30 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760158048 2 167853910 CA C 300 PASS XIRP2 CCDS42769.1 r.? - - Del intronic D 167853910 167853918 1 6 266.788 - - 7 1 1 XIRP2|CCDS42769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XIRP2|CCDS42769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 6 28 6 0 0 ./. 5 0 6 1 27 22 27 22 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760158148 2 168236291 AG A 300 PASS - - - - - Del - D 168236291 168236294 1 12 257.155 - - 2 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 3 2 4 3 24 23 24 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760158331 2 168916635 TC T 300 PASS STK39 CCDS42770.1 r.? - - Del intronic D 168916635 168916644 1 10 269.196 - - 8 1 1 STK39|CCDS42770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK39|CCDS42770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 2 5 21 18 21 18 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760158627 2 169784976 G GA 300 PASS ABCB11 CCDS46444.1 r.? - - Ins intronic I 169784976 169784986 1 10 266.186 - - 9 1 1 ABCB11|CCDS46444.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCB11|CCDS46444.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 1 6 1 18 13 18 13 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760158702 2 170067517 AT A 360 PASS LRP2 CCDS2232.1 r.? - - Del intronic D 170067517 170067525 1 15 322.433 - - 7 1 1 LRP2|CCDS2232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP2|CCDS2232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 2 4 2 26 20 26 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760159074 2 170991818 GA G 254 PASS - - - - - Del - D 170991818 170991820 1 12 267.992 - - 1 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 3 2 5 21 31 21 31 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760159212 2 171334253 CA C 720 PASS MYO3B CCDS42773.1 r.? - - Del intronic D 171334253 171334258 1 48 641.254 - - 4 1 1 MYO3B|CCDS42773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO3B|CCDS42773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 5 7 6 7 36 34 36 34 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760159349 2 171630243 CT C 480 PASS ENSG00000204334 ENST00000375280 r.? - - Del intronic D 171630243 171630253 1 25 429.51 - - 9 1 1 ENSG00000204334|ENST00000375280|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000204334|ENST00000375280|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 4 5 4 21 21 21 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760159409 2 171756803 CT C 300 PASS - - - - - Del - D 171756803 171756812 1 6 269.196 - - 8 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 0 5 1 6 7 23 7 23 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760159670 2 172354973 CT C 569 PASS - - - - - Del - D 172354973 172354981 1 36 538.392 - - 7 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 5 5 6 6 24 30 24 30 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760159811 2 172704093 CT C 300 PASS SLC25A12 CCDS33327.1 r.? - - Del intronic D 172704093 172704102 1 6 269.196 - - 8 1 1 SLC25A12|CCDS33327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC25A12|CCDS33327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 18 7 18 0 0 ./. 5 0 9 1 29 19 29 19 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160177 2 173753932 AT A 360 PASS RAPGEF4 CCDS42775.1 r.? - - Del intronic D 173753932 173753942 1 15 323.035 - - 9 1 1 RAPGEF4|CCDS42775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAPGEF4|CCDS42775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 2 4 3 4 21 22 21 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160339 2 174228064 CA C 300 PASS CDCA7 CCDS2252.1 r.599delA c.496delA p.A168fs*11 Del frameshift D 174228064 174228071 1 12 264.982 - - 6 1 1 CDCA7|CCDS2252.1|r.599delA|c.496delA|p.A168fs*11|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CDCA7|CCDS2252.1|r.599delA|c.496delA|p.A168fs*11|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 2 5 3 34 19 34 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160345 2 174232024 GT G 300 PASS CDCA7 CCDS2252.1 r.? - - Del intronic D 174232024 174232034 1 12 269.196 - - 9 1 1 CDCA7|CCDS2252.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDCA7|CCDS2252.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 2 3 2 24 27 24 27 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160347 2 174238784 CT C 300 PASS - - - - - Del - D 174238784 174238792 1 12 269.196 - - 7 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 2 4 3 27 19 27 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160377 2 174327278 CT C 480 PASS - - - - - Del - D 174327278 174327288 1 25 430.714 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 4 5 5 20 25 20 25 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160413 2 174509518 GA G 300 PASS - - - - - Del - D 174509518 174509528 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 4 6 34 31 34 31 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160466 2 174699917 CA C 360 PASS - - - - - Del - D 174699917 174699927 1 16 321.831 - - 9 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 3 5 7 16 33 16 33 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160516 2 174861258 ACT A 269 PASS - - - - - Del - D 174861258 174861268 2 12 269.196 - - 4 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 2 3 3 4 27 24 27 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160555 2 174978314 TA T 420 PASS OLA1 CCDS2255.1 r.? - - Del intronic D 174978314 174978324 1 8 376.874 - - 9 1 1 OLA1|CCDS2255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OLA1|CCDS2255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 7 0 9 0 24 8 24 8 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160685 2 175348747 TA T 540 PASS GPR155 CCDS2259.1 r.? - - Del intronic D 175348747 175348753 1 30 484.553 - - 5 1 1 GPR155|CCDS2259.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GPR155|CCDS2259.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 5 5 6 24 28 24 28 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160690 2 175358099 CT C 420 PASS - - - - - Del - D 175358099 175358109 1 18 359.415 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 5 3 6 19 20 19 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160699 2 175372039 TGA T 420 PASS - - - - - Del - D 175372039 175372052 2 18 376.874 - - 6 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 5 2 7 26 20 26 20 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160788 2 175622345 A AT 360 PASS CHRNA1 CCDS33331.1 r.434_435insa c.367_368insA p.I123fs*17 Ins frameshift I 175622345 175622353 1 15 318.821 - - 7 1 1 CHRNA1|CCDS33331.1|r.434_435insa|c.367_368insA|p.I123fs*17|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 CHRNA1|CCDS33331.1|r.434_435insa|c.367_368insA|p.I123fs*17|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 4 3 5 23 25 23 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760160992 2 176441081 AT A 420 PASS - - - - - Del - D 176441081 176441090 1 14 376.874 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 6 1 8 1 26 22 26 22 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760161376 2 177767208 GA G 300 PASS - - - - - Del - D 177767208 177767218 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 1 4 2 5 28 31 28 31 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760161701 2 178713235 GT G 480 PASS PDE11A CCDS42786.1 r.? - - Del intronic D 178713235 178713241 1 21 430.714 - - 5 1 1 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 2 9 3 28 20 28 20 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760161805 2 179052150 GT G 420 PASS - - - - - Del - D 179052150 179052160 1 20 376.874 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 3 5 4 22 12 22 12 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760161814 2 179083711 CT C 329 PASS OSBPL6 CCDS2277.1 r.? - - Del intronic D 179083711 179083721 1 15 322.433 - - 9 1 1 OSBPL6|CCDS2277.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 OSBPL6|CCDS2277.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 4 2 4 25 24 25 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760161975 2 179770718 CT C 360 PASS CCDC141 ENST00000409284 r.? - - Del intronic D 179770718 179770726 1 15 323.035 - - 7 1 1 CCDC141|ENST00000409284|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC141|ENST00000409284|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 2 5 3 19 19 19 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162052 2 180061984 GA G 339 PASS SESTD1 CCDS33338.1 r.? - - Del intronic D 180061984 180061994 1 24 425.295 - - 9 1 1 SESTD1|CCDS33338.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SESTD1|CCDS33338.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 5 4 8 33 25 33 25 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162122 2 180293278 G GT 360 PASS - - - - - Ins - I 180293278 180293286 1 16 318.219 - - 7 1 1 - - ./. 0 0 0 0 13 11 13 12 0 0 ./. 3 3 6 3 29 31 29 31 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162128 2 180308472 G GA 420 PASS ZNF385B CCDS33339.1 r.? - - Ins intronic I 180308472 180308481 1 14 372.66 - - 8 1 1 ZNF385B|CCDS33339.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF385B|CCDS33339.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 12 5 12 0 0 ./. 1 6 3 7 21 28 21 28 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162209 2 180632343 CA C 300 PASS ZNF385B CCDS33339.1 r.? - - Del intronic D 180632343 180632352 1 6 269.196 - - 8 1 1 ZNF385B|CCDS33339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF385B|CCDS33339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 8 4 8 0 0 ./. 0 5 0 6 3 29 3 29 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162251 2 180809561 TA T 420 PASS CWC22 CCDS46465.1 r.? - - Del downstream D 180809561 180809569 1 8 376.874 - - 7 1 1 CWC22|CCDS46465.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 CWC22|CCDS46465.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 14 13 14 13 0 0 ./. 0 7 1 7 17 18 17 18 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162256 2 180832566 G GA 420 PASS CWC22 CCDS46465.1 r.? - - Ins intronic I 180832566 180832574 1 20 372.66 - - 7 1 1 CWC22|CCDS46465.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CWC22|CCDS46465.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 4 3 6 24 37 24 39 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162377 2 181280251 CA C 540 PASS - - - - - Del - D 181280251 181280260 1 30 484.553 - - 8 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 5 4 5 5 25 23 25 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162387 2 181388689 AT A 300 PASS - - - - - Del - D 181388689 181388699 1 10 267.39 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 1 8 5 38 20 38 20 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162452 2 181649771 CT C 300 PASS - - - - - Del - D 181649771 181649779 1 12 267.992 - - 7 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 5 4 26 21 26 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162704 2 182513133 CA C 480 PASS CERKL CCDS46466.1 r.? - - Del intronic D 182513133 182513143 1 24 429.51 - - 9 1 1 CERKL|CCDS46466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CERKL|CCDS46466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 3 6 5 32 26 32 26 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162743 2 182741842 C CT 420 PASS - - - - - Ins - I 182741842 182741845 1 18 372.66 - - 2 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 5 2 5 24 21 24 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162753 2 182854382 CT C 540 PASS PPP1R1C CCDS46468.1 r.? - - Del intronic D 182854382 182854392 1 28 484.553 - - 9 1 1 PPP1R1C|CCDS46468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R1C|CCDS46468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 3 6 6 7 29 30 29 30 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162866 2 183221458 C CA 272 PASS PDE1A CCDS2285.1 r.? - - Ins intronic I 183221458 183221467 1 6 266.186 - - 8 1 1 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 5 0 6 0 34 2 34 2 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162867 2 183225920 CTA C 300 PASS PDE1A CCDS2285.1 r.? - - Del intronic D 183225920 183225924 2 12 269.196 - - 1 1 1 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 4 6 17 17 17 17 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162895 2 183338218 CT C 300 PASS PDE1A CCDS2285.1 r.? - - Del intronic D 183338218 183338226 1 10 269.196 - - 7 1 1 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 4 1 5 2 24 29 24 29 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760162991 2 183621811 GA G 480 PASS DNAJC10 CCDS33345.1 r.? - - Del intronic D 183621811 183621820 1 21 430.112 - - 8 1 1 DNAJC10|CCDS33345.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC10|CCDS33345.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 6 2 6 2 19 23 19 23 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163021 2 183716741 GA G 389 PASS FRZB CCDS2286.1 r.? - - Del intronic D 183716741 183716750 1 20 376.874 - - 8 1 1 FRZB|CCDS2286.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRZB|CCDS2286.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 3 6 6 27 24 27 24 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163029 2 183738939 TA T 360 PASS - - - - - Del - D 183738939 183738947 1 12 323.035 - - 7 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 5 1 6 27 37 27 37 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163054 2 183782986 AT A 420 PASS - - - - - Del - D 183782986 183782995 1 14 376.874 - - 8 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 6 1 8 1 30 26 30 26 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163093 2 183931685 GT G 300 PASS - - - - - Del - D 183931685 183931695 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 1 4 1 19 16 19 16 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163147 2 184076409 CT C 329 PASS - - - - - Del - D 184076409 184076419 1 16 320.627 - - 9 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 3 3 3 22 5 22 5 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163166 2 184108913 CT C 420 PASS - - - - - Del - D 184108913 184108921 1 18 376.874 - - 7 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 2 5 4 18 22 18 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163264 2 184394330 T TGTTGAAGGGACCTCAGTCAGTTG 319 PASS - - - - - Ins - I 184394330 184394354 23 30 439.91 - - 1 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 9 1 1 20 29 21 37 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163297 2 184550924 AT A 360 PASS - - - - - Del - D 184550924 184550931 1 12 323.035 - - 6 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 5 1 6 4 27 27 27 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163382 2 184898504 C CT 300 PASS - - - - - Ins - I 184898504 184898512 1 10 266.186 - - 7 1 1 - - ./. 0 0 0 0 9 8 10 8 0 0 ./. 4 1 6 1 20 5 21 5 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163476 2 185117183 GA G 360 PASS - - - - - Del - D 185117183 185117193 1 16 323.035 - - 9 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 3 4 7 17 27 17 27 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163554 2 185486347 CT C 360 PASS ZNF804A CCDS2291.1 r.? - - Del intronic D 185486347 185486355 1 12 323.035 - - 7 1 1 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 1 5 1 6 3 18 3 18 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163698 2 186182526 CT C 420 PASS - - - - - Del - D 186182526 186182531 1 14 376.874 - - 4 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 6 1 7 9 29 9 29 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163807 2 186634202 AT A 360 PASS FSIP2 ENST00000424728 r.? - - Del intronic D 186634202 186634211 1 16 323.035 - - 8 1 1 FSIP2|ENST00000424728|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSIP2|ENST00000424728|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 3 3 5 23 16 23 16 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163844 2 186772511 CA C 480 PASS - - - - - Del - D 186772511 186772519 1 25 430.714 - - 7 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 4 5 5 28 30 28 30 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760163932 2 187199018 GA G 360 PASS - - - - - Del - D 187199018 187199028 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 4 5 5 24 31 24 31 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760164050 2 187596315 G GT 480 PASS FAM171B CCDS33347.1 r.? - - Ins intronic I 187596315 187596322 1 21 425.897 - - 6 1 1 FAM171B|CCDS33347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM171B|CCDS33347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 6 2 6 25 25 26 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760164180 2 188091122 CT C 300 PASS - - - - - Del - D 188091122 188091132 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 3 4 5 26 35 26 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760164332 2 188665443 C CT 300 PASS - - - - - Ins - I 188665443 188665452 1 12 265.584 - - 8 1 1 - - ./. 0 0 0 0 10 15 11 15 0 0 ./. 2 3 4 3 31 20 32 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760164359 2 188771851 C CA 360 PASS - - - - - Ins - I 188771851 188771861 1 15 317.617 - - 9 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 4 2 4 4 22 4 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760164531 2 189385864 CA C 329 PASS GULP1 CCDS2295.1 r.? - - Del intronic D 189385864 189385874 1 12 323.035 - - 9 1 1 GULP1|CCDS2295.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GULP1|CCDS2295.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 1 5 2 7 10 24 10 24 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760164548 2 189484633 CT C 480 PASS - - - - - Del - D 189484633 189484643 1 25 430.714 - - 9 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 4 5 6 31 29 31 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760164592 2 189678487 A AT 480 PASS - - - - - Ins - I 189678487 189678494 1 21 425.897 - - 6 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 6 2 8 2 29 14 29 15 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760164868 2 190763130 AT A 300 PASS - - - - - Del - D 190763130 190763140 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 4 3 6 22 22 22 22 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760164953 2 191121919 TA T 360 PASS HIBCH CCDS46475.1 r.? - - Del intronic D 191121919 191121925 1 16 323.035 - - 5 1 1 HIBCH|CCDS46475.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HIBCH|CCDS46475.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 3 3 4 28 28 28 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760165111 2 191597390 TA T 360 PASS - - - - - Del - D 191597390 191597400 1 12 322.433 - - 9 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 1 6 1 22 22 22 22 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760165174 2 191734255 CA C 300 PASS - - - - - Del - D 191734255 191734265 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 2 3 2 30 24 30 24 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760165383 2 192417091 G GA 300 PASS - - - - - Ins - I 192417091 192417100 1 12 266.186 - - 8 1 - - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 2 4 29 16 29 16 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760165462 2 192668112 CA C 420 PASS - - - - - Del - D 192668112 192668122 1 18 376.874 - - 9 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 5 2 6 2 27 12 27 12 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760165475 2 192709448 GT G 480 PASS SDPR CCDS2313.1 r.? - - Del intronic D 192709448 192709458 1 25 430.714 - - 9 1 1 SDPR|CCDS2313.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDPR|CCDS2313.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 4 4 8 26 32 26 32 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760165716 2 193501843 CA C 420 PASS - - - - - Del - D 193501843 193501852 1 20 376.874 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 4 3 7 16 18 16 18 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760165737 2 193653129 AT A 360 PASS - - - - - Del - D 193653129 193653137 1 12 323.035 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 5 2 6 16 28 16 28 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760165743 2 193763398 TA T 269 PASS - - - - - Del - D 193763398 193763408 1 6 269.196 - - 9 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 5 0 5 0 27 0 27 0 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760165771 2 193892154 TA T 300 PASS - - - - - Del - D 193892154 193892164 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 1 4 2 5 15 18 15 18 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760165875 2 194395821 AT A 357 PASS - - - - - Del - D 194395821 194395831 1 12 323.035 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 1 5 1 6 7 21 7 21 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760166344 2 196272774 AT A 300 PASS - - - - - Del - D 196272774 196272784 1 10 268.594 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 1 6 2 30 26 30 26 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760166351 2 196294440 CT C 360 PASS - - - - - Del - D 196294440 196294449 1 16 323.035 - - 8 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 3 4 8 12 28 12 28 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760166523 2 196815190 AT A 371 PASS DNAH7 CCDS42794.1 r.? - - Del intronic D 196815190 196815199 1 14 376.874 - - 8 1 1 DNAH7|CCDS42794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH7|CCDS42794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 1 6 1 8 24 26 24 26 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760166632 2 197146429 GA G 360 PASS HECW2 CCDS33354.1 r.? - - Del intronic D 197146429 197146437 1 16 323.035 - - 7 1 1 HECW2|CCDS33354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HECW2|CCDS33354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 3 3 4 19 13 19 13 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760166849 2 197866395 CT C 360 PASS ANKRD44 CCDS33355.1 r.? - - Del intronic D 197866395 197866402 1 15 323.035 - - 6 1 1 ANKRD44|CCDS33355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD44|CCDS33355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 4 2 5 3 24 23 24 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760167114 2 198564565 AT A 360 PASS ENSG00000222017 ENST00000409845 r.? - - Del intronic D 198564565 198564575 1 16 323.035 - - 9 1 1 ENSG00000222017|ENST00000409845|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000222017|ENST00000409845|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 3 5 3 24 20 24 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760167210 2 199032021 CT C 420 PASS - - - - - Del - D 199032021 199032027 1 18 376.874 - - 5 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 5 3 5 23 23 23 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760167231 2 199091781 T TA 300 PASS - - - - - Ins - I 199091781 199091791 1 12 266.186 - - 9 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 2 4 2 24 33 24 33 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760167370 2 199512039 TA T 480 PASS - - - - - Del - D 199512039 199512048 1 24 430.714 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 5 4 5 18 22 18 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760167445 2 199757746 GA G 300 PASS - - - - - Del - D 199757746 199757754 1 12 268.594 - - 7 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 3 3 4 28 21 28 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760167448 2 199760342 C CA 300 PASS - - - - - Ins - I 199760342 199760351 1 6 265.584 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 0 8 0 36 27 37 28 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760167593 2 200288344 AC A 300 PASS SATB2 CCDS2327.1 r.? - - Del intronic D 200288344 200288350 1 12 269.196 - - 5 1 1 SATB2|CCDS2327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SATB2|CCDS2327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 3 6 5 28 18 28 18 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760167693 2 200652446 GA G 300 PASS - - - - - Del - D 200652446 200652454 1 6 269.196 - - 7 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 0 5 0 6 3 25 3 25 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760167787 2 201007386 GA G 300 PASS - - - - - Del - D 201007386 201007396 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 1 4 2 5 7 17 7 17 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760167928 2 201451861 CA C 300 PASS AOX1 CCDS33360.1 r.? - - Del intronic D 201451861 201451871 1 12 268.594 - - 9 1 - AOX1|CCDS33360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AOX1|CCDS33360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 2 5 3 23 23 23 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760168010 2 201693523 GA G 660 PASS BZW1 ENST00000409600 r.? - - Del downstream D 201693523 201693531 1 30 592.231 - - 7 1 1 BZW1|ENST00000409600|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 BZW1|ENST00000409600|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 15 9 15 0 0 ./. 9 2 10 6 37 31 37 31 10 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760168012 2 201697209 C CA 360 PASS - - - - - Ins - I 201697209 201697218 1 12 319.423 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 1 5 1 30 17 31 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760168074 2 201837256 TTTTG T 360 PASS - - - - - Del - D 201837256 201837272 4 15 318.821 - - 3 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 2 5 4 21 12 21 12 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760168092 2 201914081 C CT 300 PASS FAM126B CCDS2335.1 r.? - - Ins intronic I 201914081 201914091 1 12 265.584 - - 9 1 1 FAM126B|CCDS2335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FAM126B|CCDS2335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 4 14 5 0 0 ./. 2 3 2 5 16 26 16 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760168454 2 202830737 CA C 360 PASS - - - - - Del - D 202830737 202830747 1 15 323.035 - - 9 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 2 4 2 4 24 28 24 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760168481 2 202888494 TC T 420 PASS - - - - - Del - D 202888494 202888502 1 14 372.66 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 1 7 3 30 25 30 25 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760168684 2 203426266 CT C 360 PASS BMPR2 CCDS33361.1 r.5254delU c.? p.? Del 3'UTR variant D 203426266 203426275 1 15 323.035 - - 8 1 1 BMPR2|CCDS33361.1|r.5254delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 BMPR2|CCDS33361.1|r.5254delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 6 2 26 11 26 11 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760168779 2 203699350 CA C 300 PASS ICA1L CCDS2354.1 r.? - - Del intronic D 203699350 203699358 1 10 260.767 - - 7 1 1 ICA1L|CCDS2354.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ICA1L|CCDS2354.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 4 2 5 22 16 22 16 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760168960 2 204231586 GT G 600 PASS ABI2 CCDS2358.1 r.? - - Del intronic D 204231586 204231595 1 36 538.392 - - 8 1 1 ABI2|CCDS2358.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABI2|CCDS2358.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 5 5 6 23 27 23 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760168986 2 204293343 TC T 360 PASS ABI2 CCDS2358.1 r.2932delC c.? p.? Del 3'UTR variant D 204293343 204293349 1 16 323.035 - - 5 1 1 ABI2|CCDS2358.1|r.2932delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ABI2|CCDS2358.1|r.2932delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 3 3 5 20 19 20 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169025 2 204383406 C CA 360 PASS RAPH1 CCDS2359.1 r.? - - Ins intronic I 204383406 204383414 1 7 319.423 - - 7 1 1 RAPH1|CCDS2359.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RAPH1|CCDS2359.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 15 13 0 0 ./. 0 6 2 6 25 25 25 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169058 2 204487255 ATAT A 269 PASS - - - - - Del - D 204487255 204487261 3 10 267.39 - - 1 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 4 1 5 1 24 22 24 22 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169079 2 204554213 TA T 420 PASS - - - - - Del - D 204554213 204554220 1 20 376.874 - - 6 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 4 4 7 21 27 21 27 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169165 2 204767551 T TG 420 PASS - - - - - Ins - I 204767551 204767559 1 20 372.66 - - 7 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 4 5 7 27 27 27 27 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169185 2 204806888 AT A 300 PASS ICOS CCDS2363.1 r.? - - Del intronic D 204806888 204806897 1 12 269.196 - - 8 1 1 ICOS|CCDS2363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ICOS|CCDS2363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 3 4 4 16 27 16 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169273 2 205145324 AG A 540 PASS - - - - - Del - D 205145324 205145330 1 28 484.553 - - 5 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 3 6 4 6 20 36 20 36 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169390 2 205675489 GT G 420 PASS PARD3B CCDS42806.1 r.? - - Del intronic D 205675489 205675498 1 18 376.272 - - 8 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 5 2 5 36 23 36 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169619 2 206498385 CT C 480 PASS - - - - - Del - D 206498385 206498394 1 25 428.907 - - 8 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 4 4 6 4 26 34 26 34 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169630 2 206529577 GT G 300 PASS - - - - - Del - D 206529577 206529587 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 1 8 2 28 25 28 25 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169658 2 206615457 CA C 300 PASS NRP2 CCDS2364.1 r.? - - Del intronic D 206615457 206615462 1 12 269.196 - - 4 1 1 NRP2|CCDS2364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRP2|CCDS2364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 3 5 5 21 22 21 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169678 2 206698973 CT C 300 PASS - - - - - Del - D 206698973 206698982 1 12 269.196 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 2 5 3 22 29 22 29 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169751 2 206868455 CA C 360 PASS INO80D CCDS46500.1 r.4125delU c.? p.? Del 3'UTR variant D 206868455 206868465 1 12 321.831 - - 9 1 1 INO80D|CCDS46500.1|r.4125delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 INO80D|CCDS46500.1|r.4125delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 1 10 2 35 22 35 22 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169909 2 207155635 GT G 420 PASS ZDBF2 CCDS46501.1 r.? - - Del intronic D 207155635 207155644 1 14 376.874 - - 8 1 1 ZDBF2|CCDS46501.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZDBF2|CCDS46501.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 1 6 1 27 18 27 18 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760169920 2 207275798 TC T 449 PASS - - - - - Del - D 207275798 207275806 1 24 419.877 - - 7 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 5 4 6 28 38 28 38 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760170049 2 207830015 GT G 300 PASS CPO CCDS2372.1 r.? - - Del intronic D 207830015 207830021 1 10 268.594 - - 5 1 1 CPO|CCDS2372.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPO|CCDS2372.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 1 4 3 6 23 37 23 37 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760170190 2 208233359 GC G 360 PASS - - - - - Del - D 208233359 208233366 1 16 322.433 - - 6 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 3 3 4 4 21 29 21 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760170250 2 208458848 TA T 300 PASS CREB1 CCDS2375.1 r.? - - Del intronic D 208458848 208458855 1 6 269.196 - - 6 1 1 CREB1|CCDS2375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CREB1|CCDS2375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 0 5 0 7 4 20 4 20 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760170261 2 208479429 C CT 300 PASS FAM119A CCDS2376.1 r.? - - Ins intronic I 208479429 208479438 1 12 266.186 - - 8 1 1 FAM119A|CCDS2376.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM119A|CCDS2376.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 5 4 28 20 28 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760170355 2 208647252 GA G 300 PASS - - - - - Del - D 208647252 208647262 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 2 3 2 4 21 20 21 20 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760170444 2 208893843 CT C 269 PASS PLEKHM3 CCDS42808.1 r.? - - Del upstream D 208893843 208893852 1 12 268.594 - - 8 1 1 PLEKHM3|CCDS42808.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PLEKHM3|CCDS42808.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 18 16 20 0 0 ./. 3 2 5 2 27 34 27 42 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760170568 2 209112849 G GA 540 PASS IDH1 CCDS2381.1 r.? - - Ins intronic I 209112849 209112858 1 30 470.103 - - 8 1 1 IDH1|CCDS2381.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IDH1|CCDS2381.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 16 21 17 0 0 ./. 5 4 5 5 27 26 27 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760170649 2 209316554 AT A 300 PASS PTH2R CCDS2383.1 r.? - - Del intronic D 209316554 209316560 1 10 269.196 - - 5 1 1 PTH2R|CCDS2383.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTH2R|CCDS2383.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 1 4 1 17 4 17 4 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760170653 2 209330917 AT A 420 PASS PTH2R CCDS2383.1 r.? - - Del intronic D 209330917 209330927 1 18 373.262 - - 9 1 1 PTH2R|CCDS2383.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTH2R|CCDS2383.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 2 9 3 33 22 33 22 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760170883 2 210298072 TGA T 300 PASS MAP2 CCDS33369.1 r.? - - Del intronic D 210298072 210298082 2 12 269.196 - - 4 1 1 MAP2|CCDS33369.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAP2|CCDS33369.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 3 2 4 2 19 25 19 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760170989 2 210871128 GT G 420 PASS RPE CCDS2388.1 r.? - - Del intronic D 210871128 210871138 1 20 376.874 - - 9 1 1 RPE|CCDS2388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPE|CCDS2388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 4 3 4 14 27 14 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760171086 2 211255754 GT G 300 PASS - - - - - Del - D 211255754 211255764 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 4 3 6 28 24 28 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760171176 2 211618624 CT C 360 PASS - - - - - Del - D 211618624 211618633 1 7 323.035 - - 8 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 6 0 7 0 27 13 27 13 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760171506 2 212693095 TAAGGA T 261 PASS ERBB4 CCDS2394.1 r.? - - Del intronic D 212693095 212693104 5 30 483.951 - - 1 1 1 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 4 7 5 32 25 32 25 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760171640 2 213128321 G GA 300 PASS ERBB4 CCDS2394.1 r.? - - Ins intronic I 213128321 213128328 1 6 266.186 - - 6 1 1 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 0 5 0 6 0 20 0 20 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760171702 2 213298035 TAAAAG T 269 PASS ERBB4 CCDS2394.1 r.? - - Del intronic D 213298035 213298043 5 12 269.196 - - 1 1 1 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 2 3 2 3 17 14 17 14 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760172074 2 214636026 GT G 360 PASS SPAG16 CCDS2396.1 r.? - - Del intronic D 214636026 214636034 1 16 320.025 - - 7 1 1 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 3 3 3 20 36 20 36 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760172133 2 214918723 CT C 420 PASS SPAG16 CCDS2396.1 r.? - - Del intronic D 214918723 214918733 1 14 376.874 - - 9 1 1 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 1 6 3 8 24 24 24 24 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760172357 2 215568769 CA C 300 PASS - - - - - Del - D 215568769 215568778 1 12 269.196 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 3 2 22 8 22 8 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760172408 2 215721708 CT C 300 PASS - - - - - Del - D 215721708 215721718 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 4 1 4 1 36 11 36 11 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760172435 2 215803527 G GT 360 PASS ABCA12 CCDS33372.1 r.? - - Ins intronic I 215803527 215803536 1 16 315.208 - - 8 1 1 ABCA12|CCDS33372.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCA12|CCDS33372.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 16 12 0 0 ./. 3 3 5 5 33 25 35 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760172829 2 216772383 TG T 269 PASS - - - - - Del - D 216772383 216772389 1 10 267.992 - - 5 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 1 5 4 23 20 23 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173020 2 217235079 TG T 480 PASS MARCH4 CCDS33376.1 r.1671delC c.? p.? Del 5'UTR variant D 217235079 217235086 1 21 429.51 - - 6 1 1 MARCH4|CCDS33376.1|r.1671delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 MARCH4|CCDS33376.1|r.1671delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 7 8 7 8 0 0 ./. 2 6 2 7 17 29 17 29 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173080 2 217385386 TA T 360 PASS RPL37A ENST00000446558 r.? - - Del intronic D 217385386 217385395 1 15 322.433 - - 8 1 1 RPL37A|ENST00000446558|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPL37A|ENST00000446558|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 4 3 26 15 26 15 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173145 2 217600241 C CA 420 PASS - - - - - Ins - I 217600241 217600249 1 18 372.058 - - 7 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 2 5 2 7 4 28 4 29 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173184 2 217690385 A AT 420 PASS - - - - - Ins - I 217690385 217690387 1 20 372.66 - - 1 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 3 4 3 5 27 21 28 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173191 2 217731812 TA T 540 PASS ENSG00000223874 ENST00000456163 r.? - - Del upstream D 217731812 217731821 1 30 484.553 - - 8 1 1 ENSG00000223874|ENST00000456163|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000223874|ENST00000456163|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 4 5 5 29 29 29 29 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173255 2 217978882 CT C 540 PASS - - - - - Del - D 217978882 217978891 1 30 484.553 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 5 6 7 28 27 28 27 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173387 2 218460739 GC G 360 PASS - - - - - Del - D 218460739 218460747 1 15 323.035 - - 7 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 4 4 31 27 31 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173420 2 218604776 AT A 300 PASS DIRC3 ENST00000423123 r.? - - Del intronic D 218604776 218604785 1 6 269.196 - - 8 1 1 DIRC3|ENST00000423123|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIRC3|ENST00000423123|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 0 6 0 37 10 37 10 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173476 2 218882993 CT C 420 PASS - - - - - Del - D 218882993 218882998 1 18 376.874 - - 4 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 5 3 8 20 39 20 39 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173497 2 218987108 CTT C 420 PASS CXCR2 CCDS2408.1 r.? - - Del upstream D 218987108 218987112 2 20 376.874 - - 3 1 1 CXCR2|CCDS2408.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CXCR2|CCDS2408.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 3 4 4 21 14 21 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173641 2 219297439 G GT 360 PASS VIL1 CCDS2417.1 r.? - - Ins intronic I 219297439 219297442 1 16 319.423 - - 2 1 1 VIL1|CCDS2417.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VIL1|CCDS2417.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 3 4 4 21 26 21 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173668 2 219372911 GT G 600 PASS USP37 CCDS2418.1 r.? - - Del intronic D 219372911 219372920 1 35 538.392 - - 8 1 1 USP37|CCDS2418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP37|CCDS2418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 6 4 6 4 24 21 24 21 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173834 2 219807911 CA C 360 PASS - - - - - Del - D 219807911 219807921 1 12 319.423 - - 9 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 1 5 1 5 32 29 32 29 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173893 2 220028425 G GT 300 PASS SLC23A3 CCDS46517.1 r.? - - Ins intronic I 220028425 220028435 1 12 264.982 - - 9 1 - SLC23A3|CCDS46517.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC23A3|CCDS46517.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 2 5 3 34 30 34 30 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760173910 2 220067890 CT C 420 PASS ZFAND2B CCDS2435.1 r.? - - Del upstream D 220067890 220067899 1 18 376.272 - - 8 1 1 ZFAND2B|CCDS2435.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZFAND2B|ENST00000436556|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 2 6 6 34 29 34 29 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760174011 2 220366325 TG T 300 PASS GMPPA CCDS2441.1 r.? - - Del intronic D 220366325 220366333 1 12 269.196 - - 7 1 1 GMPPA|CCDS2441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GMPPA|CCDS2441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 3 4 23 26 23 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760174218 2 220943916 AT A 300 PASS - - - - - Del - D 220943916 220943926 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 2 3 2 18 14 18 14 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760174321 2 221232643 CT C 360 PASS - - - - - Del - D 221232643 221232649 1 16 323.035 - - 5 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 3 3 3 30 14 30 14 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760174421 2 221639618 AT A 300 PASS - - - - - Del - D 221639618 221639628 1 6 269.196 - - 9 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 5 0 6 1 31 15 31 15 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760174581 2 222123383 CA C 420 PASS - - - - - Del - D 222123383 222123393 1 20 376.874 - - 9 1 1 - - ./. 0 0 0 0 3 22 3 22 0 0 ./. 4 3 5 4 19 16 19 16 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760174642 2 222356744 AC A 420 PASS EPHA4 CCDS2447.1 r.? - - Del intronic D 222356744 222356749 1 18 375.068 - - 4 1 1 EPHA4|CCDS2447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA4|CCDS2447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 19 8 19 0 0 ./. 2 5 4 6 26 30 26 30 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760174682 2 222458623 AT A 300 PASS - - - - - Del - D 222458623 222458633 1 10 269.196 - - 9 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 4 1 5 1 28 27 28 27 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760174740 2 222679504 CT C 420 PASS - - - - - Del - D 222679504 222679512 1 20 376.874 - - 7 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 3 4 5 27 20 27 20 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760174843 2 223022439 GT G 480 PASS - - - - - Del - D 223022439 223022447 1 21 430.714 - - 7 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 2 7 4 31 22 31 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760174847 2 223029555 CA C 420 PASS - - - - - Del - D 223029555 223029563 1 18 376.874 - - 7 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 2 5 2 9 17 36 17 36 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760174918 2 223171299 GA G 360 PASS CCDC140 CCDS2452.1 r.? - - Del downstream D 223171299 223171305 1 15 322.433 - - 5 1 1 CCDC140|CCDS2452.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CCDC140|CCDS2452.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 2 7 2 27 19 27 19 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760175026 2 223553949 CT C 360 PASS MOGAT1 CCDS46524.1 r.? - - Del intronic D 223553949 223553958 1 12 323.035 - - 8 1 1 MOGAT1|CCDS46524.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MOGAT1|CCDS46524.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 1 5 4 5 32 22 32 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760175247 2 224138019 GGA G 300 PASS - - - - - Del - D 224138019 224138035 2 6 267.39 - - 7 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 0 5 0 20 25 20 25 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760175278 2 224317731 GA G 420 PASS - - - - - Del - D 224317731 224317741 1 20 376.874 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 3 4 3 22 17 22 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760175350 2 224577720 GT G 660 PASS - - - - - Del - D 224577720 224577729 1 42 592.231 - - 8 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 5 8 5 31 28 31 28 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760175421 2 224719448 TA T 420 PASS - - - - - Del - D 224719448 224719455 1 18 376.874 - - 6 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 5 2 5 16 18 16 18 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760175515 2 224908945 TC T 360 PASS SERPINE2 CCDS2460.1 r.? - - Del upstream D 224908945 224908947 1 15 322.433 - - 1 1 - SERPINE2|CCDS2460.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SERPINE2|CCDS2460.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 2 5 3 24 20 24 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760175521 2 224916756 AT A 480 PASS - - - - - Del - D 224916756 224916766 1 24 430.714 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 3 8 4 28 26 28 26 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760176011 2 226529915 CT C 420 PASS - - - - - Del - D 226529915 226529925 1 14 376.874 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 1 6 3 6 25 29 25 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760176039 2 226666476 CT C 300 PASS - - - - - Del - D 226666476 226666484 1 12 269.196 - - 7 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 3 3 5 12 25 12 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760176215 2 227235081 CT C 780 PASS - - - - - Del - D 227235081 227235083 1 44 698.706 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 10 3 12 30 31 30 31 3 12 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760176264 2 227384212 GA G 300 PASS - - - - - Del - D 227384212 227384222 1 12 269.196 - - 9 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 3 2 3 8 22 8 22 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760176339 2 227722590 T TA 300 PASS RHBDD1 CCDS2464.1 r.? - - Ins intronic I 227722590 227722600 1 6 266.186 - - 9 1 1 RHBDD1|CCDS2464.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RHBDD1|CCDS2464.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 12 0 0 ./. 0 5 1 7 31 31 31 32 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760176347 2 227779363 TA T 360 PASS RHBDD1 CCDS2464.1 r.? - - Del intronic D 227779363 227779372 1 7 321.831 - - 8 1 1 RHBDD1|CCDS2464.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RHBDD1|CCDS2464.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 0 6 1 10 27 38 27 38 1 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760176348 2 227805841 G GT 360 PASS RHBDD1 CCDS2464.1 r.? - - Ins intronic I 227805841 227805844 1 16 318.821 - - 2 1 - RHBDD1|CCDS2464.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RHBDD1|CCDS2464.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 15 11 0 0 ./. 3 3 5 4 33 22 33 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760176420 2 228030339 TA T 360 PASS COL4A4 CCDS42828.1 r.? - - Del upstream D 228030339 228030345 1 15 320.627 - - 5 1 1 COL4A4|CCDS42828.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 COL4A3|CCDS42829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 4 2 6 12 25 12 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760177083 2 229740232 CCTT C 689 PASS - - - - - Del - D 229740232 229740241 3 33 646.07 - - 2 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 10 2 11 23 38 23 38 2 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760177130 2 229933663 CCT C 480 PASS PID1 CCDS2471.1 r.? - - Del intronic D 229933663 229933677 2 24 429.51 - - 6 1 1 PID1|CCDS2471.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PID1|CCDS2471.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 5 3 5 3 20 28 20 28 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760177260 2 230263659 TA T 600 PASS DNER CCDS33390.1 r.? - - Del intronic D 230263659 230263669 1 36 538.392 - - 9 1 1 DNER|CCDS33390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNER|CCDS33390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 5 5 5 21 23 21 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760177535 2 231043970 TC T 329 PASS SP110 CCDS2475.1 r.? - - Del intronic D 231043970 231043977 1 12 321.831 - - 6 1 1 SP110|CCDS2475.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SP110|CCDS2475.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 5 2 6 23 31 23 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760177562 2 231104867 CA C 300 PASS SP140 CCDS42831.1 r.? - - Del intronic D 231104867 231104875 1 12 268.594 - - 7 1 1 SP140|CCDS42831.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SP140|CCDS42831.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 2 4 4 29 25 29 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760177787 2 231735595 TC T 300 PASS ITM2C CCDS2479.1 r.? - - Del intronic D 231735595 231735599 1 12 268.594 - - 3 1 1 ITM2C|CCDS2479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITM2C|CCDS2479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 5 2 21 27 21 27 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760177837 2 231884215 AT A 268 PASS SPATA3 ENST00000355662 r.? - - Del intronic D 231884215 231884221 1 12 268.594 - - 5 1 1 SPATA3|ENST00000355662|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 SPATA3|ENST00000355662|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 2 3 3 4 25 22 25 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760178109 2 232531746 TG T 480 PASS - - - - - Del - D 232531746 232531753 1 25 430.714 - - 6 1 1 - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 4 4 6 5 23 20 23 20 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760178433 2 233560571 G GT 300 PASS GIGYF2 CCDS33401.1 r.? - - Ins upstream I 233560571 233560579 1 6 264.982 - - 7 1 - GIGYF2|CCDS33401.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 GIGYF2|CCDS33401.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 19 10 19 10 0 0 ./. 5 0 6 0 30 2 30 2 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760178928 2 234859898 CA C 300 PASS TRPM8 CCDS33407.1 r.? - - Del intronic D 234859898 234859906 1 12 269.196 - - 7 1 1 TRPM8|CCDS33407.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPM8|CCDS33407.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 3 2 4 22 29 22 29 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760178992 2 235114680 AT A 300 PASS - - - - - Del - D 235114680 235114690 1 12 268.594 - - 9 1 1 - - ./. 0 0 0 0 13 4 13 4 0 0 ./. 3 2 4 2 21 13 21 13 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760178995 2 235120824 AT A 360 PASS - - - - - Del - D 235120824 235120831 1 15 323.035 - - 6 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 4 2 4 4 18 18 18 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760179040 2 235228281 CT C 420 PASS - - - - - Del - D 235228281 235228290 1 18 376.272 - - 8 1 - - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 5 2 5 6 25 30 25 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760179159 2 235466190 T TG 300 PASS - - - - - Ins - I 235466190 235466198 1 12 266.186 - - 7 1 1 - - ./. 0 0 0 0 6 8 7 8 0 0 ./. 3 2 4 2 25 31 25 31 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760179170 2 235489654 CA C 540 PASS - - - - - Del - D 235489654 235489658 1 18 483.349 - - 3 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 1 8 2 8 17 20 17 20 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760179211 2 235569137 GA G 300 PASS - - - - - Del - D 235569137 235569143 1 12 269.196 - - 5 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 4 3 22 18 22 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760179381 2 236115382 TA T 360 PASS - - - - - Del - D 236115382 236115391 1 15 322.433 - - 8 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 4 2 6 32 29 32 29 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760179403 2 236175546 AC A 420 PASS - - - - - Del - D 236175546 236175552 1 20 376.874 - - 5 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 4 3 7 5 28 34 29 34 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760179637 2 236883989 GT G 300 PASS AGAP1 CCDS33408.1 r.? - - Del intronic D 236883989 236883998 1 12 269.196 - - 8 1 1 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 2 3 2 25 16 25 16 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760179788 2 237203398 GT G 480 PASS ENSG00000233611 ENST00000415226 r.? - - Del intronic D 237203398 237203407 1 24 430.714 - - 8 1 1 ENSG00000233611|ENST00000415226|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ENSG00000233611|ENST00000415226|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 3 7 4 36 27 36 27 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760179961 2 237910224 CA C 480 PASS - - - - - Del - D 237910224 237910233 1 24 430.714 - - 8 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 5 4 6 33 28 33 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180067 2 238365906 TG T 300 PASS - - - - - Del - D 238365906 238365914 1 12 269.196 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 4 3 18 21 18 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180133 2 238605672 C CT 360 PASS LRRFIP1 CCDS2521.1 r.? - - Ins intronic I 238605672 238605682 1 12 314.606 - - 9 1 1 LRRFIP1|CCDS2521.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRFIP1|CCDS2521.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 14 7 0 0 ./. 5 1 8 2 32 23 32 23 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180150 2 238696720 AT A 300 PASS - - - - - Del - D 238696720 238696729 1 12 269.196 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 2 7 3 26 16 26 16 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180269 2 239010795 T TG 629 PASS ESPNL CCDS2525.1 r.? - - Ins intronic I 239010795 239010803 1 40 585.609 - - 7 1 1 ESPNL|CCDS2525.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ESPNL|CCDS2525.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 7 4 9 5 31 30 31 30 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180316 2 239167483 TG T 360 PASS PER2 CCDS2528.1 r.? - - Del intronic D 239167483 239167492 1 7 319.423 - - 8 1 1 PER2|CCDS2528.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PER2|CCDS2528.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 0 6 1 7 22 25 22 25 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180374 2 239351289 GT G 360 PASS ASB1 CCDS33416.1 r.? - - Del intronic D 239351289 239351297 1 15 323.035 - - 7 1 1 ASB1|CCDS33416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASB1|CCDS33416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 2 4 3 31 30 31 30 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180508 2 239833377 GAC G 300 PASS - - - - - Del - D 239833377 239833394 2 12 269.196 - - 8 1 - - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 2 4 5 24 27 24 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180560 2 239974109 TA T 300 PASS HDAC4 CCDS2529.1 r.4730delU c.? p.? Del 3'UTR variant D 239974109 239974119 1 12 264.38 - - 9 1 1 HDAC4|CCDS2529.1|r.4730delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 HDAC4|CCDS2529.1|r.4730delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 4 4 31 18 31 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180610 2 240131110 G GA 598 PASS HDAC4 CCDS2529.1 r.? - - Ins intronic I 240131110 240131117 1 42 585.609 - - 6 1 1 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 6 7 7 36 23 36 23 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180688 2 240379055 AT A 720 PASS - - - - - Del - D 240379055 240379065 1 49 644.264 - - 9 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 6 6 7 38 32 38 32 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180689 2 240379730 C CT 720 PASS - - - - - Ins - I 240379730 240379733 1 49 636.438 - - 2 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 6 6 6 8 27 35 27 35 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180741 2 240633741 GC G 629 PASS - - - - - Del - D 240633741 240633750 1 42 586.211 - - 8 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 6 8 8 26 37 26 37 8 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180790 2 240819005 CT C 420 PASS - - - - - Del - D 240819005 240819013 1 20 376.272 - - 7 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 4 3 4 3 19 24 19 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760180919 2 241182385 CT C 360 PASS - - - - - Del - D 241182385 241182395 1 7 321.229 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 0 7 0 30 4 30 4 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760181237 2 242267845 CA C 360 PASS SEPT2 CCDS2548.1 r.? - - Del intronic D 242267845 242267852 1 16 323.035 - - 6 1 1 SEPT2|CCDS2548.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEPT2|CCDS2548.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 4 4 20 20 20 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760181304 2 242437928 AG A 300 PASS STK25 CCDS2549.1 r.? - - Del intronic D 242437928 242437934 1 10 269.196 - - 5 1 1 STK25|CCDS2549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK25|CCDS2549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 1 4 2 25 33 25 33 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760181625 20 162985 GA G 1020 PASS - - - - - Del - D 162985 162993 1 88 924.642 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 10 7 12 9 28 21 28 21 12 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760181639 20 208335 C CT 300 PASS DEFB129 CCDS12992.1 r.? - - Ins intronic I 208335 208345 1 12 268.943 - - 9 1 1 DEFB129|CCDS12992.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DEFB129|CCDS12992.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 16 15 0 0 ./. 2 3 2 3 30 33 32 33 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760181721 20 363875 CT C 480 PASS TRIB3 CCDS12997.1 r.? - - Del intronic D 363875 363880 1 21 435.126 - - 4 1 1 TRIB3|CCDS12997.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRIB3|CCDS12997.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 2 6 4 6 27 27 27 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760181780 20 483799 G GT 300 PASS CSNK2A1P CCDS13003.1 r.? - - Ins intronic I 483799 483806 1 12 268.943 - - 6 1 1 CSNK2A1P|CCDS13003.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSNK2A1P|CCDS13003.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 2 3 3 4 25 31 25 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760181901 20 763102 GC G 360 PASS - - - - - Del - D 763102 763109 1 15 325.14 - - 6 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 2 4 2 4 22 21 22 21 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760181935 20 836059 CA C 480 PASS - - - - - Del - D 836059 836068 1 24 435.126 - - 8 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 5 3 6 33 28 33 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760182108 20 1369882 CTAGAG CTG 387 PASS FKBP1A CCDS13014.1 r.? - - Complex intronic DI 1369883 1369887 5 21 0 - - 0 1 1 FKBP1A|CCDS13014.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 FKBP1A|CCDS13014.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 6 2 0 0 20 24 20 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760182351 20 2230608 TA T 300 PASS ENSG00000225631 ENST00000437539 r.? - - Del upstream D 2230608 2230615 1 12 271.351 - - 6 1 1 ENSG00000225631|ENST00000437539|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000225631|ENST00000437539|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 6 12 6 12 0 0 ./. 2 3 4 4 28 26 28 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760182554 20 2738427 TA T 300 PASS EBF4 CCDS46573.1 r.? - - Del intronic D 2738427 2738436 1 6 265.933 - - 8 1 1 EBF4|CCDS46573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EBF4|CCDS46573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 0 5 1 6 12 22 12 22 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760182560 20 2756406 TTTTG T 300 PASS - - - - - Del - D 2756406 2756416 4 10 271.954 - - 2 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 4 1 5 10 29 10 29 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760182681 20 3099584 CA C 300 PASS UBOX5 CCDS13046.1 r.? - - Del intronic D 3099584 3099594 1 12 268.341 - - 9 1 1 UBOX5|CCDS13046.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBOX5|CCDS13046.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 5 5 15 31 15 31 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760182700 20 3153703 AG A 360 PASS ENSG00000088899 CCDS13049.1 r.? - - Del upstream D 3153703 3153711 1 15 319.722 - - 7 1 1 ENSG00000088899|CCDS13049.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000088899|ENST00000360342|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 7 3 7 0 0 ./. 2 4 4 7 14 23 14 23 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760182800 20 3336683 A AT 360 PASS C20orf194 CCDS42851.1 r.? - - Ins intronic I 3336683 3336691 1 12 316.711 - - 7 1 1 C20orf194|CCDS42851.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C20orf194|CCDS42851.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 1 8 2 32 15 32 15 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760182916 20 3565223 TA T 449 PASS ATRN CCDS13053.1 r.? - - Del intronic D 3565223 3565233 1 25 434.524 - - 9 1 1 ATRN|CCDS13053.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRN|CCDS13053.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 4 4 6 39 24 39 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760183063 20 3880128 T TC 360 PASS PANK2 CCDS13072.1 r.? - - Ins intronic I 3880128 3880129 1 16 322.732 - - 0 1 1 PANK2|CCDS13072.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PANK2|CCDS13072.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 15 0 0 ./. 3 3 5 5 23 32 23 32 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760183065 20 3882339 T TA 329 PASS PANK2 CCDS13072.1 r.? - - Ins intronic I 3882339 3882348 1 16 322.732 - - 8 1 1 PANK2|CCDS13072.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PANK2|CCDS13072.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 3 3 4 4 31 20 31 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760183079 20 3922257 CA C 360 PASS RNF24 CCDS13074.1 r.? - - Del intronic D 3922257 3922267 1 12 326.344 - - 9 1 1 RNF24|CCDS13074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF24|CCDS13074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 11 21 11 0 0 ./. 5 1 9 2 24 8 24 8 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760183132 20 4046106 ATCTT A 300 PASS ENSG00000205300 ENST00000379526 r.? - - Del downstream D 4046106 4046116 4 10 271.954 - - 2 1 1 ENSG00000205300|ENST00000379526|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000205300|ENST00000379526|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 7 16 7 0 0 ./. 1 4 2 6 21 18 21 18 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760183245 20 4394868 A AT 360 PASS - - - - - Ins - I 4394868 4394875 1 15 322.13 - - 6 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 2 4 2 29 23 32 23 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760183566 20 5198597 TA T 360 PASS - - - - - Del - D 5198597 5198605 1 16 325.742 - - 7 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 3 3 5 5 30 27 30 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760183767 20 5627900 CA C 360 PASS - - - - - Del - D 5627900 5627910 1 12 326.344 - - 9 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 1 6 1 24 13 24 13 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760183850 20 5766560 TC T 300 PASS C20orf196 CCDS13091.1 r.? - - Del intronic D 5766560 5766563 1 10 271.954 - - 2 1 1 C20orf196|CCDS13091.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C20orf196|CCDS13091.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 1 4 1 28 17 28 17 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760183940 20 5967642 GA G 300 PASS MCM8 CCDS13094.1 r.? - - Del intronic D 5967642 5967647 1 10 271.954 - - 4 1 1 MCM8|CCDS13094.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCM8|CCDS13094.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 1 4 2 6 27 27 27 27 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760183942 20 5971421 TA T 360 PASS MCM8 CCDS13094.1 r.? - - Del intronic D 5971421 5971430 1 15 326.344 - - 8 1 1 MCM8|CCDS13094.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCM8|CCDS13094.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 4 2 6 13 17 13 17 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760184075 20 6387967 GT G 300 PASS - - - - - Del - D 6387967 6387973 1 12 271.954 - - 5 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 3 2 4 14 23 14 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760184131 20 6581730 T TA 300 PASS - - - - - Ins - I 6581730 6581737 1 12 266.535 - - 6 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 2 4 2 39 30 40 30 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760184196 20 6809757 AT A 360 PASS - - - - - Del - D 6809757 6809767 1 12 326.344 - - 9 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 1 5 2 5 24 32 24 32 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760184370 20 7389030 CT C 480 PASS - - - - - Del - D 7389030 7389037 1 24 435.126 - - 6 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 3 5 3 33 11 33 11 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760184482 20 7775220 CA C 300 PASS - - - - - Del - D 7775220 7775228 1 6 271.954 - - 7 1 1 - - ./. 0 0 0 0 17 4 17 4 0 0 ./. 5 0 6 0 24 0 24 0 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760184495 20 7860885 GAGA G 300 PASS HAO1 CCDS13100.1 r.? - - Del downstream D 7860885 7860894 3 12 271.954 - - 2 1 1 HAO1|CCDS13100.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 HAO1|CCDS13100.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 2 4 13 38 13 38 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760184574 20 8179674 AT A 360 PASS PLCB1 CCDS13103.1 r.? - - Del intronic D 8179674 8179683 1 16 326.344 - - 8 1 1 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 3 3 5 8 15 8 15 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760184682 20 8601547 C CT 300 PASS PLCB1 CCDS13103.1 r.? - - Ins intronic I 8601547 8601554 1 12 268.943 - - 6 1 1 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 2 5 2 20 22 20 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760184700 20 8658388 TA T 360 PASS PLCB1 CCDS13103.1 r.? - - Del intronic D 8658388 8658398 1 12 326.344 - - 9 1 1 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 1 5 5 7 24 28 24 28 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760184850 20 9129156 AT A 360 PASS PLCB4 CCDS13104.1 r.? - - Del intronic D 9129156 9129166 1 12 325.742 - - 9 1 1 PLCB4|CCDS13104.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLCB4|CCDS13104.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 1 5 3 6 25 34 25 34 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185034 20 9899736 C CA 300 PASS - - - - - Ins - I 9899736 9899745 1 10 268.943 - - 8 1 1 - - ./. 0 0 0 0 21 24 21 24 0 0 ./. 1 4 1 5 13 17 13 18 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185144 20 10192381 CA C 480 PASS - - - - - Del - D 10192381 10192391 1 24 433.922 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 5 5 6 23 32 23 32 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185310 20 10627651 ACT A 360 PASS JAG1 CCDS13112.1 r.2249_2250delAG c.1819_1820delAG p.Q608fs*8 Del frameshift D 10627651 10627656 2 15 325.14 - - 2 1 1 JAG1|CCDS13112.1|r.2249_2250delAG|c.1819_1820delAG|p.Q608fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 JAG1|CCDS13112.1|r.2249_2250delAG|c.1819_1820delAG|p.Q608fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 2 6 3 26 28 26 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185377 20 10856890 GA G 420 PASS - - - - - Del - D 10856890 10856897 1 20 380.735 - - 6 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 3 5 3 31 25 31 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185400 20 10931963 C CT 480 PASS - - - - - Ins - I 10931963 10931970 1 24 429.105 - - 6 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 5 3 8 4 33 23 33 23 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185426 20 11105363 CG C 480 PASS - - - - - Del - D 11105363 11105368 1 21 435.126 - - 4 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 6 2 8 2 33 19 33 19 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185556 20 11525820 AT A 300 PASS - - - - - Del - D 11525820 11525828 1 12 271.954 - - 7 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 2 3 3 27 34 27 34 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185558 20 11528068 TA T 300 PASS - - - - - Del - D 11528068 11528077 1 12 271.954 - - 8 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 3 2 17 17 17 17 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185718 20 11949877 C CA 540 PASS - - - - - Ins - I 11949877 11949885 1 28 484.098 - - 7 1 1 - - ./. 0 0 0 0 6 19 6 19 0 0 ./. 6 3 6 4 35 24 35 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185746 20 12017784 TA T 300 PASS - - - - - Del - D 12017784 12017792 1 12 271.954 - - 7 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 4 3 22 21 22 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185867 20 12388492 CA C 360 PASS - - - - - Del - D 12388492 12388502 1 16 325.14 - - 9 1 1 - - ./. 0 0 0 0 8 22 8 22 0 0 ./. 3 3 3 3 25 19 25 19 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760185976 20 12697418 CT C 360 PASS - - - - - Del - D 12697418 12697427 1 16 326.344 - - 8 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 3 4 4 23 23 23 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186044 20 12896056 AT A 480 PASS - - - - - Del - D 12896056 12896063 1 24 435.126 - - 6 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 5 3 8 15 29 15 29 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186078 20 12989531 C CTG 360 PASS SPTLC3 CCDS13115.2 r.? - - Ins upstream I 12989531 12989545 2 16 319.12 - - 6 1 1 SPTLC3|CCDS13115.2|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 SPTLC3|CCDS13115.2|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 6 10 7 10 0 0 ./. 3 3 4 3 30 27 30 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186151 20 13173971 G GA 660 PASS - - - - - Ins - I 13173971 13173980 1 36 589.267 - - 8 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 3 8 3 8 30 28 30 28 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186154 20 13195978 C CT 300 PASS - - - - - Ins - I 13195978 13195985 1 12 268.943 - - 6 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 2 4 4 30 19 30 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186223 20 13404137 TA T 360 PASS TASP1 CCDS13116.1 r.? - - Del intronic D 13404137 13404147 1 16 326.344 - - 9 1 1 TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 21 11 21 0 0 ./. 3 3 3 3 23 22 23 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186226 20 13417265 GAA G 480 PASS TASP1 CCDS13116.1 r.? - - Del intronic D 13417265 13417269 2 24 433.922 - - 3 1 1 TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 5 6 6 28 30 28 30 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186315 20 13659017 TC T 360 PASS - - - - - Del - D 13659017 13659023 1 15 326.344 - - 5 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 4 3 5 22 28 22 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186475 20 14216755 GT G 360 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 14216755 14216763 1 12 326.344 - - 7 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 1 5 2 23 5 23 5 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186622 20 14745486 AT A 360 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 14745486 14745495 1 15 325.14 - - 8 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 2 4 3 21 33 21 33 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186634 20 14803542 TA T 360 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 14803542 14803551 1 16 323.334 - - 8 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 3 3 3 29 20 29 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186645 20 14872405 CA C 360 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 14872405 14872413 1 12 325.14 - - 7 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 5 2 9 8 24 8 24 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186670 20 14952245 T TG 300 PASS MACROD2 CCDS13120.2 r.? - - Ins intronic I 14952245 14952250 1 12 268.943 - - 4 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 2 6 3 22 30 22 30 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186763 20 15272940 TA T 300 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 15272940 15272949 1 12 271.351 - - 8 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 2 4 2 18 19 18 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186800 20 15401731 TA T 720 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 15401731 15401740 1 48 652.688 - - 8 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 7 5 11 6 36 20 36 20 11 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186817 20 15453169 GT G 360 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 15453169 15453178 1 16 325.14 - - 8 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 3 4 3 27 19 27 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186877 20 15697262 C CT 360 PASS MACROD2 CCDS13120.2 r.? - - Ins intronic I 15697262 15697270 1 15 322.13 - - 7 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 4 3 6 34 31 34 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760186946 20 15961635 GT G 540 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 15961635 15961641 1 30 489.516 - - 5 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 5 5 5 22 18 22 18 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187050 20 16270881 TA T 360 PASS KIF16B CCDS13122.1 r.? - - Del intronic D 16270881 16270886 1 12 326.344 - - 4 1 1 KIF16B|CCDS13122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF16B|CCDS13122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 1 5 1 6 22 26 22 26 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187170 20 16724694 TC T 300 PASS SNRPB2 CCDS13123.1 r.? - - Del downstream D 16724694 16724703 1 10 271.954 - - 8 1 1 SNRPB2|CCDS13123.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OTOR|CCDS13124.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 4 3 4 20 16 20 16 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187313 20 17264316 A AT 540 PASS PCSK2 CCDS13125.1 r.? - - Ins intronic I 17264316 17264324 1 28 482.894 - - 7 1 1 PCSK2|CCDS13125.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCSK2|CCDS13125.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 6 4 8 17 35 17 36 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187316 20 17269943 TA T 300 PASS PCSK2 CCDS13125.1 r.? - - Del intronic D 17269943 17269952 1 6 271.954 - - 8 1 1 PCSK2|CCDS13125.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCSK2|CCDS13125.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 0 5 0 5 1 38 1 38 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187430 20 17581679 GT G 360 PASS DSTN CCDS13127.1 r.647delU c.301delT p.L103fs*6 Del frameshift D 17581679 17581688 1 16 326.344 - - 8 1 1 DSTN|CCDS13127.1|r.647delU|c.301delT|p.L103fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 DSTN|CCDS13127.1|r.647delU|c.301delT|p.L103fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 17 6 17 6 0 0 ./. 3 3 5 4 24 13 24 13 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187442 20 17611012 TAC T 360 PASS RRBP1 CCDS13128.1 r.? - - Del intronic D 17611012 17611025 2 12 323.334 - - 6 1 1 RRBP1|CCDS13128.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RRBP1|CCDS13128.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 1 8 2 31 18 31 18 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187480 20 17794715 GGA G 269 PASS - - - - - Del - D 17794715 17794733 2 12 268.341 - - 8 1 - - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 5 2 17 4 17 4 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187510 20 17880243 CA C 300 PASS - - - - - Del - D 17880243 17880252 1 12 270.147 - - 8 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 2 6 2 28 20 28 20 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187554 20 17993982 CA C 389 PASS - - - - - Del - D 17993982 17993990 1 14 380.735 - - 7 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 1 6 2 6 32 20 32 20 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187653 20 18211448 TA T 300 PASS - - - - - Del - D 18211448 18211458 1 10 268.943 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 1 5 2 28 18 28 18 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187875 20 18773444 CT C 300 PASS - - - - - Del - D 18773444 18773452 1 10 271.954 - - 7 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 4 1 5 1 26 20 26 20 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187883 20 18800408 CT C 360 PASS C20orf78 ENST00000278779 r.? - - Del intronic D 18800408 18800414 1 15 325.742 - - 5 1 1 C20orf78|ENST00000278779|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C20orf78|ENST00000278779|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 2 6 3 29 24 29 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187888 20 18829174 AGAAG A 329 PASS - - - - - Del - D 18829174 18829183 4 16 324.538 - - 2 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 3 3 4 20 35 20 35 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760187999 20 19251454 AAG A 569 PASS SLC24A3 CCDS13140.1 r.? - - Del intronic D 19251454 19251470 2 36 542.703 - - 7 1 1 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 5 6 7 25 30 25 30 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188041 20 19415119 G GA 569 PASS SLC24A3 CCDS13140.1 r.? - - Ins intronic I 19415119 19415126 1 35 537.886 - - 6 1 1 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 20 16 20 0 0 ./. 6 4 7 6 37 33 37 34 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188047 20 19436729 CT C 300 PASS SLC24A3 CCDS13140.1 r.? - - Del intronic D 19436729 19436739 1 12 271.352 - - 9 1 1 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 3 4 20 21 20 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188064 20 19487078 TA T 300 PASS SLC24A3 CCDS13140.1 r.? - - Del intronic D 19487078 19487086 1 12 271.352 - - 7 1 1 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 4 4 22 25 22 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188101 20 19636039 CA C 300 PASS SLC24A3 CCDS13140.1 r.? - - Del intronic D 19636039 19636049 1 12 271.954 - - 9 1 1 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 3 3 3 21 32 21 32 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188106 20 19657265 GA G 300 PASS SLC24A3 CCDS13140.1 r.? - - Del intronic D 19657265 19657274 1 12 271.351 - - 8 1 1 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 2 3 11 28 11 28 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188218 20 19916956 AT A 540 PASS RIN2 ENST00000255006 r.? - - Del intronic D 19916956 19916963 1 24 489.516 - - 6 1 1 RIN2|ENST00000255006|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIN2|ENST00000255006|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 7 2 8 3 33 31 33 31 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188456 20 20821311 C CA 269 PASS - - - - - Ins - I 20821311 20821313 1 6 268.943 - - 1 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 0 5 5 6 20 23 20 23 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188774 20 22147470 CT C 300 PASS - - - - - Del - D 22147470 22147477 1 12 270.147 - - 6 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 4 3 21 24 21 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188796 20 22233457 TG T 360 PASS - - - - - Del - D 22233457 22233463 1 16 323.334 - - 5 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 3 3 5 35 26 35 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188821 20 22337386 CA C 360 PASS - - - - - Del - D 22337386 22337394 1 16 326.344 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 3 3 4 27 28 27 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188824 20 22363057 CA C 420 PASS - - - - - Del - D 22363057 22363066 1 18 378.327 - - 8 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 5 3 7 23 33 23 33 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188901 20 22701772 TG T 300 PASS - - - - - Del - D 22701772 22701774 1 6 271.954 - - 1 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 0 5 0 5 7 31 7 31 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188967 20 22958621 AT A 420 PASS - - - - - Del - D 22958621 22958630 1 20 380.133 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 4 3 5 21 23 21 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760188985 20 23072238 TA T 600 PASS - - - - - Del - D 23072238 23072248 1 35 543.305 - - 9 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 6 4 6 5 22 28 22 28 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189003 20 23122798 TC T 720 PASS - - - - - Del - D 23122798 23122804 1 45 651.484 - - 5 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 8 4 8 4 21 28 21 28 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189011 20 23164354 CT C 540 PASS - - - - - Del - D 23164354 23164363 1 30 482.894 - - 8 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 5 5 6 26 34 26 34 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189020 20 23222037 GT G 660 PASS - - - - - Del - D 23222037 23222045 1 42 595.89 - - 7 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 5 7 6 32 26 32 26 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189118 20 23564722 TA T 480 PASS - - - - - Del - D 23564722 23564731 1 21 435.126 - - 8 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 6 2 7 2 36 7 36 7 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189218 20 24061790 GC G 420 PASS - - - - - Del - D 24061790 24061796 1 18 380.735 - - 5 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 2 6 3 26 26 26 26 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189230 20 24117889 CA C 300 PASS - - - - - Del - D 24117889 24117897 1 12 271.954 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 2 5 26 23 26 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189282 20 24322674 CAG C 360 PASS - - - - - Del - D 24322674 24322679 2 15 326.344 - - 2 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 4 2 5 2 30 18 30 18 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189348 20 24591087 C CG 360 PASS TMEM90B CCDS13164.1 r.? - - Ins intronic I 24591087 24591095 1 16 322.13 - - 7 1 1 TMEM90B|CCDS13164.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM90B|CCDS13164.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 4 4 30 26 30 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189355 20 24620826 TG T 298 PASS TMEM90B CCDS13164.1 r.? - - Del intronic D 24620826 24620832 1 16 320.324 - - 5 1 1 TMEM90B|CCDS13164.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM90B|CCDS13164.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 3 5 3 13 19 13 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189374 20 24724033 AC A 300 PASS - - - - - Del - D 24724033 24724041 1 10 271.954 - - 7 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 1 5 2 25 31 25 31 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189390 20 24777168 GA G 300 PASS - - - - - Del - D 24777168 24777174 1 12 271.954 - - 5 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 2 5 2 29 13 29 13 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189540 20 25383088 CT C 300 PASS - - - - - Del - D 25383088 25383093 1 12 268.943 - - 4 1 1 - - ./. 0 0 0 0 11 10 11 15 0 0 ./. 2 3 4 3 35 18 35 31 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189549 20 25403067 C CA 300 PASS GINS1 CCDS33451.1 r.? - - Ins intronic I 25403067 25403077 1 12 255.698 - - 9 1 - GINS1|CCDS33451.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GINS1|CCDS33451.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 2 3 4 3 31 23 33 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189592 20 25556381 C CA 300 PASS NINL CCDS33452.1 r.? - - Ins intronic I 25556381 25556390 1 6 268.943 - - 8 1 1 NINL|CCDS33452.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NINL|CCDS33452.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 17 7 18 0 0 ./. 5 0 5 0 24 18 24 19 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760189918 20 26057336 CT C 389 PASS FAM182A ENST00000376398 r.? - - Del intronic D 26057336 26057346 1 18 380.735 - - 9 1 1 FAM182A|ENST00000376398|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM182A|ENST00000376398|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 42 27 42 27 0 0 ./. 2 5 6 6 32 61 32 61 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760190425 20 29463998 A AT 271 PASS - - - - - Ins - I 29463998 29464004 1 16 322.732 - - 5 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 3 3 5 4 45 41 46 42 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760191461 20 30470430 T TA 360 PASS TTLL9 CCDS42863.1 r.? - - Ins intronic I 30470430 30470440 1 15 322.13 - - 9 1 1 TTLL9|CCDS42863.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTLL9|CCDS42863.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 4 2 5 12 19 14 19 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760191650 20 31018439 GT G 360 PASS ASXL1 CCDS13201.1 r.? - - Del intronic D 31018439 31018448 1 15 326.344 - - 8 1 1 ASXL1|CCDS13201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASXL1|CCDS13201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 2 6 2 24 16 24 16 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760191707 20 31204141 AAG A 449 PASS - - - - - Del - D 31204141 31204161 2 24 430.309 - - 9 1 - - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 3 6 4 33 35 33 35 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760191831 20 31400868 AT A 300 PASS DNMT3B CCDS13205.1 r.? - - Del downstream D 31400868 31400878 1 10 267.739 - - 9 1 1 DNMT3B|CCDS13205.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DNMT3B|CCDS13205.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 1 10 1 10 0 0 ./. 1 4 1 5 1 29 1 29 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760192097 20 32215201 AG A 449 PASS CBFA2T2 CCDS13221.1 r.? - - Del intronic D 32215201 32215210 1 21 434.524 - - 8 1 1 CBFA2T2|CCDS13221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CBFA2T2|CCDS13221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 6 2 10 3 23 20 23 20 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760192285 20 32765823 CA C 300 PASS - - - - - Del - D 32765823 32765831 1 12 271.954 - - 7 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 2 3 3 5 27 26 27 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760192477 20 33260363 C CA 269 PASS PIGU CCDS13239.1 r.? - - Ins intronic I 33260363 33260373 1 12 267.739 - - 9 1 1 PIGU|CCDS13239.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PIGU|CCDS13239.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 3 4 4 26 24 26 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760192478 20 33260363 CA C 298 PASS PIGU CCDS13239.1 r.? - - Del intronic D 33260363 33260373 1 15 326.344 - - 9 1 1 PIGU|CCDS13239.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIGU|CCDS13239.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 4 3 4 24 24 24 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760192604 20 33549865 C CA 360 PASS - - - - - Ins - I 33549865 33549873 1 15 322.732 - - 7 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 2 4 2 4 23 29 23 29 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760192650 20 33655839 TA T 300 PASS TRPC4AP CCDS13246.1 r.? - - Del intronic D 33655839 33655848 1 12 271.954 - - 8 1 1 TRPC4AP|CCDS13246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPC4AP|CCDS13246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 21 9 21 0 0 ./. 3 2 3 4 26 22 26 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760192723 20 33802876 AT A 269 PASS - - - - - Del - D 33802876 33802884 1 12 271.352 - - 7 1 1 - - ./. 0 0 0 0 7 3 7 3 0 0 ./. 2 3 3 3 24 27 24 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760192731 20 33824006 GA G 480 PASS MMP24 CCDS46593.1 r.? - - Del intronic D 33824006 33824015 1 21 435.126 - - 8 1 1 MMP24|CCDS46593.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MMP24|CCDS46593.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 2 6 3 9 27 27 27 27 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760192775 20 33959816 T TA 300 PASS UQCC CCDS13252.1 r.? - - Ins intronic I 33959816 33959825 1 10 267.137 - - 8 1 1 UQCC|CCDS13252.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UQCC|CCDS13252.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 1 4 4 24 13 24 13 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760192903 20 34360577 TC T 358 PASS PHF20 CCDS13268.1 r.? - - Del intronic D 34360577 34360587 1 20 375.316 - - 9 1 1 PHF20|CCDS13268.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PHF20|CCDS13268.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 3 7 6 29 23 29 23 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760192994 20 34601048 G GA 269 PASS C20orf152 CCDS13270.1 r.? - - Ins intronic I 34601048 34601057 1 10 267.137 - - 8 1 1 C20orf152|CCDS13270.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C20orf152|CCDS13270.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 11 20 11 0 0 ./. 1 4 2 6 30 35 30 35 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760193018 20 34691079 TG T 360 PASS EPB41L1 CCDS13272.1 r.? - - Del intronic D 34691079 34691085 1 15 326.344 - - 5 1 1 EPB41L1|CCDS13272.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 EPB41L1|CCDS13272.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 4 5 4 25 27 25 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760193084 20 34997679 AT A 449 PASS DLGAP4 CCDS13274.1 r.? - - Del intronic D 34997679 34997688 1 25 425.493 - - 8 1 1 DLGAP4|CCDS13274.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DLGAP4|CCDS13274.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 4 4 4 6 26 28 26 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760193085 20 34997983 CA C 360 PASS DLGAP4 CCDS13274.1 r.? - - Del intronic D 34997983 34997990 1 12 326.344 - - 6 1 1 DLGAP4|CCDS13274.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DLGAP4|CCDS13274.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 1 5 2 7 27 31 27 31 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760193238 20 35463711 TG T 480 PASS C20orf117 CCDS46598.1 r.? - - Del intronic D 35463711 35463721 1 24 432.115 - - 9 1 1 C20orf117|CCDS46598.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C20orf117|CCDS46598.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 3 7 4 32 24 32 24 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760193411 20 35806110 AT A 360 PASS RPN2 CCDS13291.1 r.? - - Del upstream D 35806110 35806115 1 15 326.344 - - 4 1 1 RPN2|CCDS13291.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C20orf132|ENST00000343811|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 2 4 2 5 8 20 8 20 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760193435 20 35841047 AT A 360 PASS RPN2 CCDS13291.1 r.? - - Del intronic D 35841047 35841056 1 15 318.517 - - 8 1 1 RPN2|CCDS13291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPN2|CCDS13291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 4 3 5 10 31 10 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760193621 20 36468836 AT A 480 PASS CTNNBL1 CCDS13298.1 r.? - - Del intronic D 36468836 36468842 1 16 432.717 - - 5 1 1 CTNNBL1|CCDS13298.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNBL1|CCDS13298.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 1 7 1 8 18 30 18 30 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760193789 20 37071466 C CT 300 PASS - - - - - Ins - I 37071466 37071474 1 10 265.933 - - 7 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 4 1 4 3 20 24 20 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760193806 20 37120493 A AT 420 PASS RALGAPB CCDS13305.1 r.? - - Ins intronic I 37120493 37120497 1 20 374.714 - - 3 1 1 RALGAPB|CCDS13305.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RALGAPB|CCDS13305.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 3 4 4 33 27 33 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194137 20 38067509 AT A 420 PASS - - - - - Del - D 38067509 38067519 1 20 380.735 - - 9 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 3 4 3 14 24 14 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194280 20 38700235 TA T 300 PASS - - - - - Del - D 38700235 38700243 1 6 271.954 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 0 7 1 17 28 17 28 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194333 20 38942061 GA G 300 PASS - - - - - Del - D 38942061 38942071 1 12 271.954 - - 9 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 3 3 3 18 26 18 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194420 20 39576369 AT A 360 PASS - - - - - Del - D 39576369 39576379 1 15 326.344 - - 9 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 2 4 4 4 30 27 30 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194456 20 39718975 AT A 569 PASS TOP1 CCDS13312.1 r.? - - Del intronic D 39718975 39718983 1 36 543.907 - - 7 1 1 TOP1|CCDS13312.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TOP1|CCDS13312.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 5 6 6 26 20 26 20 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194462 20 39764985 AG A 600 PASS PLCG1 CCDS13313.1 r.? - - Del upstream D 39764985 39764995 1 35 537.886 - - 9 1 1 PLCG1|CCDS13313.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PLCG1|CCDS13313.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 6 9 6 9 0 0 ./. 6 4 7 5 32 21 32 21 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194485 20 39895848 CT C 389 PASS ZHX3 CCDS13315.1 r.? - - Del intronic D 39895848 39895857 1 20 380.735 - - 8 1 1 ZHX3|CCDS13315.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZHX3|CCDS13315.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 4 3 4 31 9 31 9 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194504 20 40011971 G GT 300 PASS - - - - - Ins - I 40011971 40011979 1 12 258.106 - - 7 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 3 3 3 24 26 25 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194511 20 40045113 CA C 420 PASS CHD6 CCDS13317.1 r.? - - Del intronic D 40045113 40045123 1 18 380.735 - - 9 1 1 CHD6|CCDS13317.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHD6|CCDS13317.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 2 5 2 5 23 21 23 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194700 20 40930101 GT G 360 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 40930101 40930111 1 16 326.344 - - 9 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 10 12 0 0 ./. 3 3 4 5 18 23 20 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194717 20 40980129 CA C 420 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 40980129 40980138 1 20 380.735 - - 8 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 4 5 6 29 23 29 23 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194815 20 41323110 A AT 257 PASS PTPRT CCDS42874.1 r.? - - Ins intronic I 41323110 41323115 1 12 266.535 - - 4 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 5 4 34 28 34 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194833 20 41384721 TA T 300 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 41384721 41384731 1 12 271.954 - - 9 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 3 5 26 30 26 30 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194835 20 41387253 TA T 300 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 41387253 41387263 1 12 271.954 - - 9 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 2 3 4 5 33 26 33 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194852 20 41461146 TA T 389 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 41461146 41461156 1 20 380.133 - - 9 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 3 4 4 8 29 8 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760194880 20 41577255 CA C 300 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 41577255 41577265 1 10 270.749 - - 9 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 1 6 1 21 13 21 13 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760195284 20 42606219 TG T 300 PASS TOX2 CCDS42875.1 r.? - - Del intronic D 42606219 42606221 1 12 271.954 - - 1 1 1 TOX2|CCDS42875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TOX2|CCDS42875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 3 2 5 4 27 26 27 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760195298 20 42641947 T TC 300 PASS TOX2 CCDS42875.1 r.? - - Ins intronic I 42641947 42641952 1 12 268.943 - - 4 1 1 TOX2|CCDS42875.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TOX2|CCDS42875.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 2 3 5 4 32 22 32 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760195431 20 42980661 G GTC 660 PASS HNF4A CCDS42876.1 r.? - - Ins upstream I 42980661 42980673 2 36 583.246 - - 5 1 - HNF4A|CCDS42876.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 HNF4A|CCDS42876.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 8 12 8 12 0 0 ./. 8 3 11 4 32 32 33 32 11 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760195436 20 42990344 CA C 254 PASS HNF4A CCDS42876.1 r.? - - Del intronic D 42990344 42990354 1 6 271.351 - - 9 1 - HNF4A|CCDS42876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HNF4A|CCDS42876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 21 15 21 0 0 ./. 0 5 2 8 24 30 24 30 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760195461 20 43060128 TG T 360 PASS HNF4A CCDS13330.1 r.? - - Del downstream D 43060128 43060134 1 15 326.344 - - 5 1 1 HNF4A|CCDS13330.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 HNF4A|CCDS13330.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 11 5 11 5 0 0 ./. 2 4 3 4 27 22 27 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760195476 20 43144640 CT C 420 PASS SERINC3 CCDS13333.1 r.? - - Del intronic D 43144640 43144649 1 20 380.735 - - 8 1 1 SERINC3|CCDS13333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SERINC3|CCDS13333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 3 4 3 15 37 15 37 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760195562 20 43447356 AT A 300 PASS - - - - - Del - D 43447356 43447363 1 12 271.351 - - 6 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 3 4 5 21 34 21 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760195613 20 43611059 AC A 387 PASS STK4 CCDS13341.1 r.? - - Del intronic D 43611059 43611067 1 25 434.524 - - 7 1 1 STK4|CCDS13341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK4|CCDS13341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 4 6 4 21 16 21 16 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760195959 20 44618106 C CA 540 PASS - - - - - Ins - I 44618106 44618115 1 28 484.098 - - 8 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 6 3 7 4 25 42 25 42 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760196078 20 45034533 CA C 300 PASS ELMO2 CCDS13398.1 r.? - - Del intronic D 45034533 45034543 1 12 270.749 - - 9 1 1 ELMO2|CCDS13398.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ELMO2|CCDS13398.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 2 3 5 4 22 38 22 38 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760196084 20 45056518 C CA 600 PASS - - - - - Ins - I 45056518 45056526 1 35 537.886 - - 7 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 4 9 4 36 31 36 32 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760196300 20 45724304 TA T 300 PASS EYA2 CCDS13403.1 r.? - - Del intronic D 45724304 45724313 1 10 271.954 - - 8 1 1 EYA2|CCDS13403.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYA2|CCDS13403.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 1 6 1 19 5 19 5 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760196488 20 46097818 CT C 300 PASS - - - - - Del - D 46097818 46097828 1 12 269.545 - - 9 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 3 2 4 2 24 26 24 26 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760196575 20 46262144 CT C 600 PASS NCOA3 CCDS13406.1 r.? - - Del intronic D 46262144 46262149 1 35 543.907 - - 4 1 1 NCOA3|CCDS13406.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCOA3|CCDS13406.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 4 6 6 8 26 26 26 26 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197210 20 47928445 GT G 300 PASS - - - - - Del - D 47928445 47928455 1 12 271.954 - - 9 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 2 3 2 5 4 26 4 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197316 20 48242746 CT C 480 PASS - - - - - Del - D 48242746 48242756 1 21 435.126 - - 9 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 6 2 8 26 26 26 26 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197330 20 48274846 A AG 360 PASS B4GALT5 CCDS13420.1 r.? - - Ins intronic I 48274846 48274853 1 15 322.732 - - 6 1 1 B4GALT5|CCDS13420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 B4GALT5|CCDS13420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 5 3 26 21 26 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197600 20 48897001 TG T 480 PASS - - - - - Del - D 48897001 48897008 1 24 435.126 - - 6 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 5 3 6 14 26 14 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197870 20 49520545 GA G 360 PASS ADNP CCDS13433.1 r.564-8delu c.? p.? Del splice region D 49520545 49520555 1 15 326.344 - - 9 1 1 ADNP|CCDS13433.1|r.564-8delu|c.?|p.?|protein_coding:five_prime_UTR:extended_intronic_splice_region:deletion:5_prime_UTR_variant:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000204:SO:CGPX05:SO:0000159:SO:0001623:SO:CGPX04:SO:0001576 ADNP|CCDS13433.1|r.308delU|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 14 18 14 18 0 0 ./. 4 2 4 3 22 27 22 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197878 20 49538921 A AC 300 PASS ADNP CCDS13433.1 r.? - - Ins intronic I 49538921 49538927 1 12 268.943 - - 5 1 1 ADNP|CCDS13433.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ADNP|CCDS13433.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 15 0 0 ./. 2 3 2 3 27 35 27 35 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197879 20 49539283 AT A 540 PASS ADNP CCDS13433.1 r.? - - Del intronic D 49539283 49539292 1 30 488.312 - - 8 1 1 ADNP|CCDS13433.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ADNP|CCDS13433.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 4 5 6 30 25 30 25 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197888 20 49548031 A AG 420 PASS ADNP CCDS13433.1 r.? - - Ins upstream I 49548031 49548040 1 8 375.316 - - 8 1 1 ADNP|CCDS13433.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ADNP|CCDS13433.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 16 7 16 7 0 0 ./. 7 0 9 1 33 14 33 14 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197890 20 49550235 AT A 360 PASS ADNP CCDS13433.1 r.? - - Del upstream D 49550235 49550245 1 16 326.344 - - 9 1 1 ADNP|CCDS13433.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ADNP|CCDS13433.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 3 4 3 34 20 34 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197908 20 49593233 CA C 420 PASS - - - - - Del - D 49593233 49593243 1 20 380.735 - - 9 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 3 5 5 22 18 22 18 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197920 20 49624030 G GT 300 PASS KCNG1 CCDS13436.1 r.? - - Ins intronic I 49624030 49624039 1 12 267.739 - - 8 1 1 KCNG1|CCDS13436.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNG1|CCDS13436.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 3 3 4 18 29 18 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760197979 20 49848346 G GA 420 PASS - - - - - Ins - I 49848346 49848356 1 14 376.521 - - 9 1 1 - - ./. 0 0 0 0 13 9 14 9 0 0 ./. 6 1 6 2 29 31 29 33 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760198354 20 50610423 CA C 300 PASS - - - - - Del - D 50610423 50610433 1 6 271.954 - - 9 1 1 - - ./. 0 0 0 0 4 13 4 13 0 0 ./. 0 5 0 6 3 17 3 17 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760198360 20 50625651 C CA 420 PASS - - - - - Ins - I 50625651 50625660 1 20 376.521 - - 8 1 1 - - ./. 0 0 0 0 12 13 16 13 0 0 ./. 3 4 4 4 19 25 19 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760198388 20 50681095 CA C 540 PASS ZFP64 ENST00000371518 r.? - - Del intronic D 50681095 50681104 1 28 489.516 - - 8 1 1 ZFP64|ENST00000371518|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFP64|ENST00000371518|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 3 6 3 8 18 34 18 34 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760198402 20 50696943 TA T 420 PASS ZFP64 CCDS13439.1 r.? - - Del downstream D 50696943 50696952 1 20 378.327 - - 8 1 1 ZFP64|CCDS13439.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZFP64|ENST00000371518|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 4 3 6 23 24 23 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760198459 20 50821469 GT G 389 PASS - - - - - Del - D 50821469 50821479 1 20 380.735 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 4 5 5 35 26 35 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760198586 20 51204075 GA G 720 PASS - - - - - Del - D 51204075 51204085 1 48 649.678 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 7 5 9 28 35 28 35 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760198835 20 52003905 AT A 300 PASS TSHZ2 CCDS33490.1 r.? - - Del intronic D 52003905 52003910 1 10 271.954 - - 4 1 1 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 1 5 3 29 34 29 34 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760198852 20 52042992 CTCT C 329 PASS TSHZ2 CCDS33490.1 r.? - - Del intronic D 52042992 52043003 3 15 326.344 - - 3 1 1 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 2 4 3 30 19 30 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760198889 20 52144424 G GT 300 PASS - - - - - Ins - I 52144424 52144434 1 10 267.137 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 1 5 2 27 29 27 29 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760198949 20 52239687 CT C 600 PASS - - - - - Del - D 52239687 52239697 1 32 538.489 - - 9 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 7 3 9 11 31 11 31 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760199018 20 52365409 TA T 300 PASS - - - - - Del - D 52365409 52365419 1 12 271.954 - - 9 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 3 3 4 15 20 15 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760199020 20 52371283 TA T 360 PASS - - - - - Del - D 52371283 52371290 1 16 326.344 - - 6 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 3 4 3 34 23 34 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760199076 20 52473781 CA C 360 PASS - - - - - Del - D 52473781 52473787 1 16 326.344 - - 5 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 3 3 5 14 18 14 18 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760199390 20 53387428 TA T 269 PASS - - - - - Del - D 53387428 53387437 1 12 271.954 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 2 3 3 20 25 20 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760199400 20 53431388 TA T 300 PASS - - - - - Del - D 53431388 53431396 1 12 271.954 - - 7 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 3 4 3 20 12 20 12 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760199521 20 53794873 GT G 360 PASS - - - - - Del - D 53794873 53794883 1 16 325.14 - - 9 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 3 8 6 23 21 23 21 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760199584 20 53964967 GT G 480 PASS - - - - - Del - D 53964967 53964971 1 25 435.126 - - 3 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 4 4 5 28 24 28 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760199785 20 54452381 CA C 360 PASS - - - - - Del - D 54452381 54452390 1 12 326.344 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 1 5 2 5 22 26 22 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760199823 20 54573004 CT C 300 PASS CBLN4 CCDS13448.1 r.2515delA c.? p.? Del 3'UTR variant D 54573004 54573014 1 12 271.954 - - 9 1 1 CBLN4|CCDS13448.1|r.2515delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CBLN4|CCDS13448.1|r.2515delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 3 2 12 6 12 6 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760199924 20 54908750 C CA 418 PASS - - - - - Ins - I 54908750 54908760 1 9 430.309 - - 9 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 0 8 0 10 17 25 18 25 0 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760199936 20 54941117 TC T 360 PASS C20orf108 CCDS13450.1 r.454-9delc c.363-9delc p.? Del splice region D 54941117 54941124 1 12 326.344 - - 6 1 1 C20orf108|CCDS13450.1|r.454-9delc|c.363-9delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 C20orf108|CCDS13450.1|r.454-9delc|c.363-9delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 1 7 4 38 24 38 24 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760200290 20 55697485 T TA 540 PASS - - - - - Ins - I 55697485 55697493 1 30 482.292 - - 7 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 5 4 8 23 24 23 24 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760200325 20 55807472 GA G 360 PASS BMP7 CCDS13455.1 r.? - - Del intronic D 55807472 55807482 1 16 326.344 - - 9 1 1 BMP7|CCDS13455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BMP7|CCDS13455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 4 7 22 33 22 33 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760200445 20 56299348 CT C 480 PASS - - - - - Del - D 56299348 56299357 1 24 435.126 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 3 6 4 25 27 25 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760200446 20 56307343 AC A 540 PASS - - - - - Del - D 56307343 56307350 1 30 489.516 - - 6 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 5 9 6 30 24 30 24 9 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760200447 20 56316145 C CA 300 PASS - - - - - Ins - I 56316145 56316152 1 10 268.943 - - 6 1 1 - - ./. 0 0 0 0 2 13 2 13 0 0 ./. 1 4 1 7 1 35 1 35 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760200493 20 56625780 CA C 300 PASS - - - - - Del - D 56625780 56625788 1 6 271.351 - - 7 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 0 5 1 7 8 26 8 26 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760200592 20 56902754 CA C 300 PASS RAB22A CCDS33497.1 r.? - - Del intronic D 56902754 56902763 1 12 271.954 - - 8 1 1 RAB22A|CCDS33497.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB22A|CCDS33497.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 2 3 20 35 20 35 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760200857 20 57753656 GA G 360 PASS - - - - - Del - D 57753656 57753664 1 15 326.344 - - 7 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 2 5 3 20 28 20 28 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760200889 20 57886107 CA C 540 PASS EDN3 CCDS13479.1 r.? - - Del intronic D 57886107 57886117 1 30 489.516 - - 9 1 1 EDN3|CCDS13479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EDN3|CCDS13479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 4 5 5 37 29 37 29 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760201063 20 58507743 CA C 329 PASS SYCP2 CCDS13482.1 r.? - - Del intronic D 58507743 58507753 1 15 317.915 - - 9 1 1 SYCP2|CCDS13482.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SYCP2|CCDS13482.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 2 9 5 32 26 32 26 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760201155 20 58966550 GA G 360 PASS - - - - - Del - D 58966550 58966560 1 12 326.344 - - 9 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 1 5 2 16 22 16 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760201259 20 59301096 C CT 449 PASS ENSG00000237240 ENST00000456299 r.? - - Ins intronic I 59301096 59301105 1 21 424.891 - - 8 1 1 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 14 15 0 0 ./. 2 6 3 8 16 44 16 45 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760201314 20 59492325 CA C 720 PASS - - - - - Del - D 59492325 59492334 1 48 652.688 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 7 7 8 30 33 30 33 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760201354 20 59703849 TG T 478 PASS - - - - - Del - D 59703849 59703858 1 30 489.516 - - 8 1 1 - - ./. 0 0 0 0 9 3 9 3 0 0 ./. 4 5 6 6 17 22 17 22 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760201387 20 59810955 CT C 269 PASS ENSG00000212701 ENST00000391394 r.? - - Del intronic D 59810955 59810961 1 12 271.954 - - 5 1 1 ENSG00000212701|ENST00000391394|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000212701|ENST00000391394|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 4 3 31 28 31 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760201727 20 60810432 CG C 300 PASS OSBPL2 CCDS13495.1 r.? - - Del upstream D 60810432 60810438 1 12 271.954 - - 5 1 1 OSBPL2|CCDS13495.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000203951|ENST00000370795|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 5 4 29 33 29 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760201976 20 61713745 A AC 480 PASS ENSG00000203905 ENST00000370344 r.? - - Ins downstream I 61713745 61713751 1 16 428.503 - - 5 1 1 ENSG00000203905|ENST00000370344|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000203905|ENST00000370344|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 7 4 9 34 29 34 30 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760202074 20 62080187 TG T 540 PASS KCNQ2 CCDS13520.1 r.? - - Del intronic D 62080187 62080195 1 28 488.914 - - 7 1 1 KCNQ2|CCDS13520.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ2|CCDS13520.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 6 3 9 25 24 25 24 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760202244 20 62485869 CCT C 420 PASS TPD52L2 ENST00000369927 r.? - - Del upstream D 62485869 62485873 2 20 380.133 - - 1 1 1 TPD52L2|ENST00000369927|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TPD52L2|ENST00000369927|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 4 5 5 29 26 29 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760202934 21 9667920 TG T 250 PASS - - - - - Del - D 9667920 9667922 1 12 598.201 - - 1 1 1 - - ./. 0 0 0 0 29 11 29 11 0 0 ./. 11 0 14 0 62 64 62 64 14 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760202977 21 9681971 AT A 288 PASS - - - - - Del - D 9681971 9681978 1 15 326.62 - - 6 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 4 2 6 3 21 27 21 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760203641 21 10002206 GC G 251 PASS - - - - - Del - D 10002206 10002208 1 11 544.367 - - 1 1 1 - - ./. 0 0 0 0 45 41 45 41 0 0 ./. 10 0 11 0 114 97 114 97 11 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760204859 21 10877689 CT C 252 PASS - - - - - Del - D 10877689 10877697 1 30 489.93 - - 7 1 1 - - ./. 0 0 0 0 36 20 36 20 0 0 ./. 5 4 6 6 44 48 44 48 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760204912 21 10936524 A AT 300 PASS TPTE CCDS33512.1 r.? - - Ins intronic I 10936524 10936531 1 12 269.173 - - 6 1 1 TPTE|CCDS33512.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TPTE|CCDS33512.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 27 22 27 0 0 ./. 3 2 4 2 56 54 56 55 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760206421 21 15895375 AT A 360 PASS SAMSN1 CCDS42906.1 r.? - - Del intronic D 15895375 15895385 1 12 326.018 - - 9 1 1 SAMSN1|CCDS42906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SAMSN1|CCDS42906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 1 5 1 18 2 18 2 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760206427 21 15911177 TA T 420 PASS SAMSN1 CCDS42906.1 r.? - - Del intronic D 15911177 15911186 1 8 377.444 - - 8 1 1 SAMSN1|CCDS42906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SAMSN1|CCDS42906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 0 7 0 9 25 28 25 28 0 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760206657 21 16714799 G GA 300 PASS - - - - - Ins - I 16714799 16714808 1 10 269.173 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 1 7 3 29 19 29 19 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760206662 21 16738329 GA G 300 PASS - - - - - Del - D 16738329 16738338 1 12 272.183 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 3 3 4 22 34 22 34 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760206672 21 16788268 CT C 360 PASS - - - - - Del - D 16788268 16788278 1 16 326.62 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 4 3 26 27 26 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760206726 21 17016944 G GA 420 PASS - - - - - Ins - I 17016944 17016952 1 14 373.832 - - 7 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 1 7 2 40 14 41 14 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760206744 21 17083371 CA C 300 PASS - - - - - Del - D 17083371 17083381 1 12 271.581 - - 9 1 1 - - ./. 0 0 0 0 15 5 15 5 0 0 ./. 3 2 3 4 23 21 23 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760206837 21 17460946 TA T 300 PASS - - - - - Del - D 17460946 17460955 1 10 272.183 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 1 5 1 21 20 21 20 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760206933 21 17741873 AC A 360 PASS - - - - - Del - D 17741873 17741879 1 7 326.62 - - 5 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 6 0 6 0 32 4 32 4 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760206980 21 17972997 AT A 420 PASS - - - - - Del - D 17972997 17973006 1 20 381.057 - - 8 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 3 6 5 28 24 28 24 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760207102 21 18401734 G GT 360 PASS - - - - - Ins - I 18401734 18401743 1 15 323.008 - - 8 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 2 4 2 32 20 32 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760207250 21 18771302 CT C 420 PASS - - - - - Del - D 18771302 18771311 1 18 381.057 - - 8 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 2 7 3 37 23 37 23 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760207438 21 19234590 GA G 540 PASS CHODL ENST00000427223 r.? - - Del intronic D 19234590 19234600 1 30 489.93 - - 9 1 1 CHODL|ENST00000427223|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHODL|ENST00000427223|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 4 6 5 29 22 29 22 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760207621 21 19787344 GT G 300 PASS PRSS7 ENST00000422787 r.? - - Del intronic D 19787344 19787354 1 10 272.183 - - 9 1 1 PRSS7|ENST00000422787|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRSS7|ENST00000422787|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 4 1 4 38 22 38 22 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760207741 21 20210290 CT C 300 PASS - - - - - Del - D 20210290 20210298 1 12 272.183 - - 7 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 3 5 4 21 26 21 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760207946 21 20839714 TA T 300 PASS - - - - - Del - D 20839714 20839722 1 10 272.183 - - 7 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 1 4 2 5 16 26 16 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760208003 21 20942783 TA T 300 PASS - - - - - Del - D 20942783 20942791 1 10 272.183 - - 7 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 4 2 4 21 20 21 20 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760208282 21 21787397 A AT 300 PASS - - - - - Ins - I 21787397 21787406 1 12 267.969 - - 8 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 3 2 6 26 25 26 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760208364 21 21969753 CT C 360 PASS - - - - - Del - D 21969753 21969762 1 16 326.62 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 3 6 6 20 21 20 21 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760208442 21 22197414 GGA G 360 PASS - - - - - Del - D 22197414 22197426 2 15 326.62 - - 5 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 4 4 4 32 30 32 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760208450 21 22219871 GT G 360 PASS - - - - - Del - D 22219871 22219879 1 16 326.62 - - 7 1 1 - - ./. 0 0 0 0 7 20 7 20 0 0 ./. 3 3 5 3 25 22 25 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760208484 21 22303717 AT A 300 PASS - - - - - Del - D 22303717 22303723 1 6 272.183 - - 5 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 0 5 1 6 9 26 9 26 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760208758 21 22991393 GT G 300 PASS - - - - - Del - D 22991393 22991403 1 10 272.183 - - 9 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 4 1 4 6 14 27 14 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760208861 21 23333836 AT A 360 PASS - - - - - Del - D 23333836 23333846 1 7 326.62 - - 9 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 0 6 0 6 6 24 6 24 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760208871 21 23346702 T TA 420 PASS - - - - - Ins - I 23346702 23346710 1 18 376.842 - - 7 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 5 2 6 8 31 8 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760208891 21 23463523 T TG 360 PASS - - - - - Ins - I 23463523 23463533 1 15 321.804 - - 9 1 1 - - ./. 0 0 0 0 15 11 16 11 0 0 ./. 4 2 4 4 21 40 22 40 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760209165 21 24412563 CT C 300 PASS - - - - - Del - D 24412563 24412573 1 6 271.581 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 0 5 0 7 1 27 1 27 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760209179 21 24454306 C CT 300 PASS - - - - - Ins - I 24454306 24454315 1 10 269.173 - - 8 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 1 5 1 15 9 15 9 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760209363 21 25100249 AT A 660 PASS - - - - - Del - D 25100249 25100259 1 42 598.201 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 6 6 6 16 21 16 21 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760209369 21 25109992 CA C 300 PASS - - - - - Del - D 25109992 25110002 1 12 272.183 - - 9 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 2 6 2 30 15 30 15 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760209443 21 25294276 TGA T 509 PASS - - - - - Del - D 25294276 25294285 2 30 483.91 - - 4 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 4 5 4 29 26 29 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760209528 21 25467865 G GT 420 PASS - - - - - Ins - I 25467865 25467873 1 8 376.842 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 0 7 2 7 34 25 34 27 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760209660 21 25892035 CT C 300 PASS - - - - - Del - D 25892035 25892045 1 10 272.183 - - 9 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 1 4 1 4 15 20 15 20 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760209664 21 25899943 CA C 365 PASS - - - - - Del - D 25899943 25899952 1 14 378.649 - - 8 1 1 - - ./. 0 0 0 0 16 6 16 6 0 0 ./. 1 6 3 6 4 20 4 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760209825 21 26493832 AAG A 300 PASS - - - - - Del - D 26493832 26493843 2 10 270.979 - - 5 1 1 - - ./. 0 0 0 0 15 3 15 3 0 0 ./. 1 4 1 5 22 31 22 31 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760209859 21 26567564 TA T 389 PASS - - - - - Del - D 26567564 26567572 1 14 381.057 - - 7 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 6 1 6 4 33 4 33 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760209994 21 27009723 C CA 360 PASS JAM2 CCDS42911.1 r.? - - Ins upstream I 27009723 27009732 1 15 319.395 - - 8 1 1 JAM2|CCDS42911.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 AP001441.1|ENST00000509807|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 14 23 14 0 0 ./. 2 4 3 5 17 23 17 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760210371 21 27746412 AT A 480 PASS - - - - - Del - D 27746412 27746419 1 24 435.493 - - 6 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 5 3 7 3 38 34 38 34 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760210514 21 28174738 AT A 300 PASS - - - - - Del - D 28174738 28174747 1 12 271.581 - - 8 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 3 4 28 21 28 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760210903 21 29337910 TA T 540 PASS - - - - - Del - D 29337910 29337920 1 28 489.93 - - 9 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 3 6 5 6 31 23 31 23 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760211299 21 30590882 AT A 420 PASS - - - - - Del - D 30590882 30590891 1 20 381.057 - - 8 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 3 5 3 26 20 26 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760211450 21 31050989 AT A 300 PASS GRIK1 CCDS42913.1 r.? - - Del intronic D 31050989 31050998 1 12 269.775 - - 8 1 1 GRIK1|CCDS42913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIK1|CCDS42913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 2 3 3 30 23 30 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760211451 21 31054793 AT A 300 PASS GRIK1 CCDS42913.1 r.? - - Del intronic D 31054793 31054802 1 12 272.183 - - 8 1 1 GRIK1|CCDS42913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIK1|CCDS42913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 3 6 22 25 22 25 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760211592 21 31535139 GT G 360 PASS CLDN17 CCDS13586.1 r.? - - Del downstream D 31535139 31535146 1 16 326.62 - - 6 1 1 CLDN17|CCDS13586.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CLDN17|CCDS13586.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 11 17 11 0 0 ./. 3 3 3 4 18 23 18 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760211607 21 31568949 GA G 360 PASS - - - - - Del - D 31568949 31568959 1 15 326.62 - - 9 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 2 4 3 8 19 26 19 26 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760211647 21 31685129 TA T 300 PASS - - - - - Del - D 31685129 31685137 1 12 272.183 - - 7 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 2 4 21 18 21 18 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760211738 21 31945215 GT G 420 PASS - - - - - Del - D 31945215 31945221 1 20 381.057 - - 5 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 4 3 5 3 30 24 30 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760211915 21 32506396 C CA 360 PASS TIAM1 CCDS13609.1 r.? - - Ins intronic I 32506396 32506404 1 16 323.008 - - 7 1 - TIAM1|CCDS13609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TIAM1|CCDS13609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 3 3 4 5 35 19 36 19 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760212132 21 32964436 TA T 360 PASS - - - - - Del - D 32964436 32964445 1 15 326.62 - - 8 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 2 4 4 25 23 25 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760212150 21 32997121 CT C 420 PASS - - - - - Del - D 32997121 32997125 1 20 380.455 - - 3 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 4 4 4 25 22 25 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760212171 21 33030692 TA T 360 PASS SOD1 CCDS33536.1 r.? - - Del upstream D 33030692 33030700 1 16 326.62 - - 7 1 1 SOD1|CCDS33536.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SOD1|CCDS33536.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 18 18 18 18 0 0 ./. 3 3 4 5 25 17 25 17 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760212184 21 33063148 CA C 300 PASS SFRS15 CCDS33537.1 r.2229delU c.1846delT p.C616fs*60 Del frameshift D 33063148 33063154 1 12 272.183 - - 5 1 1 SFRS15|CCDS33537.1|r.2229delU|c.1846delT|p.C616fs*60|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SFRS15|CCDS33537.1|r.2229delU|c.1846delT|p.C616fs*60|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 2 4 3 22 25 22 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760212285 21 33294336 CT C 360 PASS HUNK CCDS13610.1 r.? - - Del intronic D 33294336 33294346 1 12 326.62 - - 9 1 1 HUNK|CCDS13610.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HUNK|CCDS13610.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 1 5 3 6 28 35 28 35 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760212455 21 33655482 GGA G 300 PASS C21orf45 CCDS13611.1 r.? - - Del upstream D 33655482 33655496 2 12 272.183 - - 6 1 1 C21orf45|CCDS13611.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 C21orf45|CCDS13611.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 2 4 2 28 20 28 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760212567 21 33857501 CT C 660 PASS C21orf63 CCDS13614.1 r.? - - Del intronic D 33857501 33857511 1 36 596.997 - - 9 1 1 C21orf63|CCDS13614.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C21orf63|CCDS13614.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 8 3 9 25 42 25 42 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760212677 21 34222880 CA C 300 PASS - - - - - Del - D 34222880 34222888 1 6 272.183 - - 7 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 0 8 0 26 12 26 12 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760212859 21 34650795 G GT 300 PASS IL10RB CCDS13623.1 r.? - - Ins intronic I 34650795 34650801 1 12 269.173 - - 5 1 1 IL10RB|CCDS13623.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL10RB|CCDS13623.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 11 19 11 0 0 ./. 2 3 4 3 25 22 25 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760213002 21 34899821 GA G 300 PASS GART CCDS13627.1 r.? - - Del intronic D 34899821 34899831 1 12 272.183 - - 9 1 1 GART|CCDS13627.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GART|CCDS13627.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 2 5 2 28 21 28 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760213117 21 35123411 CT C 360 PASS ITSN1 CCDS33545.1 r.? - - Del intronic D 35123411 35123419 1 15 326.62 - - 7 1 1 ITSN1|CCDS33545.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITSN1|CCDS33545.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 4 3 5 22 21 22 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760213179 21 35308228 GA G 360 PASS - - - - - Del - D 35308228 35308238 1 15 325.416 - - 9 1 1 - - ./. 0 0 0 0 15 4 15 4 0 0 ./. 4 2 5 3 25 22 25 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760213183 21 35312956 GA G 360 PASS - - - - - Del - D 35312956 35312964 1 15 326.62 - - 7 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 4 2 5 2 24 10 24 10 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760213226 21 35429928 GT G 360 PASS - - - - - Del - D 35429928 35429938 1 16 326.62 - - 9 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 3 3 4 22 29 22 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760213227 21 35440074 AT A 540 PASS - - - - - Del - D 35440074 35440084 1 30 489.93 - - 9 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 5 5 7 23 30 23 30 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760213267 21 35530172 AT A 420 PASS - - - - - Del - D 35530172 35530181 1 20 380.455 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 4 4 5 31 38 31 38 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760213296 21 35649437 G GT 300 PASS - - - - - Ins - I 35649437 35649445 1 12 269.173 - - 7 1 1 - - ./. 0 0 0 0 7 16 7 17 0 0 ./. 2 3 3 3 31 32 31 32 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760213347 21 35809838 CT C 300 PASS - - - - - Del - D 35809838 35809848 1 10 272.183 - - 9 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 1 4 3 8 15 33 15 33 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760213587 21 36622160 G GA 420 PASS - - - - - Ins - I 36622160 36622167 1 20 376.842 - - 6 1 1 - - ./. 0 0 0 0 21 11 21 11 0 0 ./. 4 3 4 3 33 18 34 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214094 21 37936069 C CA 300 PASS CLDN14 CCDS13645.1 r.? - - Ins intronic I 37936069 37936075 1 10 269.173 - - 5 1 1 CLDN14|CCDS13645.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CLDN14|CCDS13645.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 1 4 2 4 20 33 20 33 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214186 21 38204332 GA G 480 PASS HLCS CCDS13647.1 r.? - - Del intronic D 38204332 38204341 1 24 435.493 - - 8 1 1 HLCS|CCDS13647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HLCS|CCDS13647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 3 6 3 29 20 29 20 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214225 21 38296530 AT A 420 PASS HLCS CCDS13647.1 r.? - - Del intronic D 38296530 38296539 1 18 381.057 - - 8 1 1 HLCS|CCDS13647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HLCS|CCDS13647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 18 5 18 0 0 ./. 5 2 5 2 23 26 23 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214515 21 39011738 AT A 420 PASS KCNJ6 CCDS42927.1 r.? - - Del intronic D 39011738 39011748 1 18 381.057 - - 9 1 1 KCNJ6|CCDS42927.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNJ6|CCDS42927.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 2 5 3 6 23 29 23 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214659 21 39296995 AT A 300 PASS - - - - - Del - D 39296995 39297003 1 10 272.183 - - 7 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 4 1 5 2 27 22 27 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214722 21 39520166 GT G 420 PASS DSCR8 ENST00000357704 r.? - - Del intronic D 39520166 39520174 1 18 381.057 - - 7 1 1 DSCR8|ENST00000357704|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DSCR8|ENST00000357704|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 5 3 5 26 28 26 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214846 21 39941093 TC T 420 PASS ERG CCDS13657.1 r.? - - Del intronic D 39941093 39941102 1 14 380.455 - - 8 1 1 ERG|CCDS13657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERG|CCDS13657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 6 1 6 21 26 21 26 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214867 21 40021009 GA G 420 PASS ERG CCDS13657.1 r.? - - Del intronic D 40021009 40021016 1 20 381.057 - - 6 1 1 ERG|CCDS13657.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ERG|CCDS13657.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 3 4 3 25 31 25 31 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214889 21 40099580 TC T 660 PASS - - - - - Del - D 40099580 40099588 1 36 598.804 - - 7 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 8 5 9 25 26 25 26 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214911 21 40188760 GT G 540 PASS ETS2 CCDS13659.1 r.? - - Del intronic D 40188760 40188767 1 28 489.93 - - 6 1 1 ETS2|CCDS13659.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ETS2|CCDS13659.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 6 3 7 3 27 32 27 32 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214937 21 40259306 TTACA T 418 PASS - - - - - Del - D 40259306 40259316 4 24 435.493 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 5 4 5 30 27 30 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760214967 21 40308472 C CT 480 PASS - - - - - Ins - I 40308472 40308482 1 25 430.677 - - 9 1 1 - - ./. 0 0 0 0 8 14 8 15 0 0 ./. 4 4 6 5 20 21 20 22 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760215176 21 40740636 CT C 329 PASS - - - - - Del - D 40740636 40740646 1 15 326.62 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 2 7 3 33 13 33 13 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760215558 21 41789759 CA C 300 PASS DSCAM CCDS42929.1 r.? - - Del intronic D 41789759 41789769 1 12 272.183 - - 9 1 1 DSCAM|CCDS42929.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DSCAM|CCDS42929.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 3 2 4 17 7 17 7 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760215841 21 42556261 CT C 480 PASS BACE2 CCDS13668.1 r.? - - Del intronic D 42556261 42556270 1 24 434.289 - - 8 1 1 BACE2|CCDS13668.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BACE2|CCDS13668.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 5 4 6 28 26 28 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760215868 21 42725876 GA G 420 PASS FAM3B CCDS13671.1 r.? - - Del intronic D 42725876 42725883 1 20 381.057 - - 6 1 1 FAM3B|CCDS13671.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM3B|CCDS13671.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 4 3 4 5 14 24 14 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760216162 21 43519431 TC T 360 PASS UMODL1 CCDS42935.1 r.? - - Del intronic D 43519431 43519435 1 16 326.018 - - 3 1 1 UMODL1|CCDS42935.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UMODL1|CCDS42935.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 8 3 8 0 0 ./. 3 3 3 5 32 20 32 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760216197 21 43622548 TG T 480 PASS ABCG1 CCDS42937.1 r.? - - Del intronic D 43622548 43622553 1 24 435.493 - - 4 1 1 ABCG1|CCDS42937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCG1|CCDS42937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 5 3 7 4 25 23 25 23 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760216258 21 43880371 A ATG 300 PASS - - - - - Ins - I 43880371 43880383 2 6 265.561 - - 5 1 - - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 0 5 1 6 32 35 32 35 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760216426 21 44281265 CA C 337 PASS WDR4 CCDS13691.1 r.? - - Del intronic D 44281265 44281275 1 15 326.62 - - 9 1 1 WDR4|CCDS13691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR4|CCDS13691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 4 2 5 11 26 11 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760216637 21 44788793 ATG A 329 PASS - - - - - Del - D 44788793 44788802 2 16 314.579 - - 4 1 - - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 3 6 3 23 19 23 19 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760216683 21 44953375 C CT 300 PASS HSF2BP CCDS13697.1 r.? - - Ins intronic I 44953375 44953384 1 12 269.173 - - 8 1 1 HSF2BP|CCDS13697.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HSF2BP|CCDS13697.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 4 5 17 39 17 39 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760216820 21 45241076 CA C 360 PASS - - - - - Del - D 45241076 45241084 1 16 326.018 - - 7 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 5 3 17 21 17 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760216874 21 45387313 CT C 300 PASS AGPAT3 CCDS13703.1 r.? - - Del intronic D 45387313 45387322 1 12 272.183 - - 8 1 1 AGPAT3|CCDS13703.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGPAT3|CCDS13703.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 3 3 27 22 27 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760216897 21 45482199 CT C 360 PASS TRAPPC10 CCDS13704.1 r.? - - Del intronic D 45482199 45482207 1 15 326.62 - - 7 1 1 TRAPPC10|CCDS13704.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAPPC10|CCDS13704.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 18 7 18 0 0 ./. 4 2 5 2 23 30 23 30 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760216899 21 45486396 C CT 600 PASS TRAPPC10 CCDS13704.1 r.? - - Ins intronic I 45486396 45486406 1 32 534.132 - - 9 1 1 TRAPPC10|CCDS13704.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRAPPC10|CCDS13704.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 7 3 7 4 44 33 45 33 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760217066 21 46090991 TC T 300 PASS C21orf29 CCDS13712.1 r.? - - Del intronic D 46090991 46090999 1 10 271.581 - - 7 1 1 C21orf29|CCDS13712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C21orf29|CCDS13712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 1 5 1 21 21 21 21 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760217077 21 46140667 AC A 540 PASS - - - - - Del - D 46140667 46140673 1 30 489.93 - - 5 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 5 5 6 42 26 42 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760217093 21 46197984 GT G 360 PASS UBE2G2 CCDS13714.1 r.? - - Del intronic D 46197984 46197991 1 7 326.62 - - 6 1 1 UBE2G2|CCDS13714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBE2G2|CCDS13714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 0 6 0 32 1 32 1 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760217132 21 46327017 AG A 300 PASS ITGB2 CCDS13716.1 r.446-8delc c.148-8delc p.? Del splice region D 46327017 46327023 1 12 272.183 - - 5 1 1 ITGB2|CCDS13716.1|r.446-8delc|c.148-8delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ITGB2|CCDS13716.1|r.446-8delc|c.148-8delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 3 3 4 15 19 15 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760217152 21 46381151 CT C 360 PASS C21orf70 CCDS13718.1 r.? - - Del intronic D 46381151 46381161 1 12 326.62 - - 9 1 1 C21orf70|CCDS13718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C21orf70|CCDS13718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 1 7 3 30 27 30 27 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760217252 21 46654470 TG T 420 PASS - - - - - Del - D 46654470 46654475 1 20 378.649 - - 4 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 3 5 4 24 22 24 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760217483 21 47491839 CT C 480 PASS - - - - - Del - D 47491839 47491847 1 24 430.075 - - 7 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 3 6 3 38 27 38 27 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760217552 21 47644875 C CA 300 PASS LSS CCDS13733.1 r.? - - Ins intronic I 47644875 47644881 1 10 267.969 - - 5 1 1 LSS|CCDS13733.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LSS|CCDS13733.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 1 5 2 20 22 20 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760217701 21 47887876 T TA 300 PASS DIP2A CCDS46655.1 r.? - - Ins intronic I 47887876 47887883 1 6 269.173 - - 6 1 1 DIP2A|CCDS46655.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DIP2A|CCDS46655.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 0 5 2 6 23 23 23 23 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760217731 21 47926038 CT C 480 PASS DIP2A CCDS46655.1 r.? - - Del intronic D 47926038 47926048 1 25 432.483 - - 9 1 1 DIP2A|CCDS46655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIP2A|CCDS46655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 4 8 4 24 24 24 24 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760218065 22 16933956 AG A 297 PASS - - - - - Del - D 16933956 16933964 1 20 378.544 - - 7 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 4 3 6 8 51 8 51 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760218586 22 17741578 CT C 360 PASS CECR1 ENST00000366217 r.? - - Del upstream D 17741578 17741586 1 15 326.358 - - 7 1 1 CECR1|ENST00000366217|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CECR1|ENST00000366217|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 5 15 5 0 0 ./. 2 4 4 6 24 29 24 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760218743 22 18104916 GA G 420 PASS ATP6V1E1 CCDS13745.1 r.? - - Del intronic D 18104916 18104925 1 20 382.156 - - 8 1 1 ATP6V1E1|CCDS13745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP6V1E1|CCDS13745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 4 4 5 22 40 22 40 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760218913 22 18498734 AT A 540 PASS ENSG00000093100 CCDS46659.1 r.? - - Del intronic D 18498734 18498741 1 24 491.343 - - 6 1 1 ENSG00000093100|CCDS46659.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000093100|CCDS46659.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 7 2 8 5 29 22 29 22 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760218940 22 18537958 AT A 269 PASS - - - - - Del - D 18537958 18537967 1 10 272.366 - - 8 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 1 4 3 6 27 27 27 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760219190 22 19147383 GT G 600 PASS - - - - - Del - D 19147383 19147392 1 27 544.733 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 8 2 9 5 30 21 30 21 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760219265 22 19323613 CA C 540 PASS HIRA CCDS13759.1 r.? - - Del intronic D 19323613 19323623 1 28 490.741 - - 9 1 1 HIRA|CCDS13759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HIRA|CCDS13759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 6 3 6 4 32 23 32 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760219274 22 19351927 GT G 360 PASS HIRA CCDS13759.1 r.? - - Del intronic D 19351927 19351936 1 12 327.562 - - 8 1 1 HIRA|CCDS13759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HIRA|CCDS13759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 1 5 1 35 23 35 23 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760219330 22 19534211 AT A 420 PASS AC000068.1 ENST00000514976 r.? - - Del intronic D 19534211 19534221 1 20 382.156 - - 9 1 1 AC000068.1|ENST00000514976|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC000068.1|ENST00000514976|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 4 4 4 21 25 21 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760219368 22 19637511 C CAA 420 PASS ENSG00000227127 ENST00000447432 r.? - - Ins intronic I 19637511 19637521 2 20 372.523 - - 9 1 1 ENSG00000227127|ENST00000447432|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ENSG00000227127|ENST00000447432|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 17 17 18 0 0 ./. 4 3 7 5 34 25 35 25 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760219500 22 20093819 TC T 480 PASS MIR1306 CCDS13773.1 r.? - - Del intronic D 20093819 20093826 1 21 436.148 - - 6 1 1 MIR1306|CCDS13773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR1306|CCDS13773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 6 5 6 26 20 26 20 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760219873 22 21270092 TC T 397 PASS CRKL CCDS13785.1 r.? - - Del upstream D 21270092 21270096 1 20 380.952 - - 3 1 1 CRKL|CCDS13785.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CRKL|CCDS13785.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 4 3 5 20 20 20 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760219926 22 21348807 CCT C 300 PASS LZTR1 CCDS33606.1 r.? - - Del intronic D 21348807 21348813 2 12 272.969 - - 2 1 1 LZTR1|CCDS33606.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LZTR1|CCDS33606.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 2 4 20 27 20 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760220047 22 21806941 AT A 360 PASS HIC2 CCDS13789.1 r.? - - Del downstream D 21806941 21806951 1 7 327.562 - - 9 1 1 HIC2|CCDS13789.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 HIC2|CCDS13789.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 5 12 5 0 0 ./. 6 0 8 0 33 0 33 0 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760220176 22 22142284 CA C 540 PASS MAPK1 CCDS13795.1 r.? - - Del intronic D 22142284 22142294 1 28 491.343 - - 9 1 1 MAPK1|CCDS13795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAPK1|CCDS13795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 6 4 8 26 34 26 34 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760220181 22 22153426 G GA 480 PASS MAPK1 CCDS13795.1 r.682-10_682-9insu c.493-10_493-9insT p.? Ins splice region I 22153426 22153435 1 21 431.933 - - 8 1 1 MAPK1|CCDS13795.1|r.682-10_682-9insu|c.493-10_493-9insT|p.?|protein_coding:CDS:extended_intronic_splice_region:insertion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000667:SO:CGPX04:SO:0001576 MAPK1|CCDS13795.1|r.682-10_682-9insu|c.493-10_493-9insT|p.?|protein_coding:CDS:extended_intronic_splice_region:insertion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000667:SO:CGPX04:SO:0001576 ./. 0 0 0 0 8 16 8 17 0 0 ./. 2 6 2 8 27 35 28 35 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760220339 22 22510746 TA T 420 PASS - - - - - Del - D 22510746 22510756 1 18 379.748 - - 9 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 5 3 7 19 40 19 40 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760220391 22 22586710 T TA 300 PASS - - - - - Ins - I 22586710 22586719 1 12 268.152 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 3 4 20 27 20 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760220505 22 22866548 G GT 420 PASS ZNF280B CCDS13799.1 r.? - - Ins upstream I 22866548 22866557 1 14 377.942 - - 8 1 1 ZNF280B|CCDS13799.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ZNF280B|CCDS13799.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 1 7 2 26 24 26 25 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760220886 22 23862906 AG A 449 PASS - - - - - Del - D 23862906 23862913 1 24 435.546 - - 6 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 3 6 4 30 18 30 18 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221019 22 24102440 AC A 329 PASS C22orf15 CCDS13814.2 r.? - - Del upstream D 24102440 24102447 1 15 326.358 - - 6 1 1 C22orf15|CCDS13814.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 C22orf15|CCDS13814.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 4 2 5 19 26 19 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221096 22 24216810 AT A 343 PASS SLC2A11 CCDS46673.1 r.? - - Del intronic D 24216810 24216819 1 20 382.156 - - 8 1 1 SLC2A11|CCDS46673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC2A11|CCDS46673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 4 3 4 3 31 28 31 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221155 22 24455862 ATTC A 269 PASS CABIN1 CCDS13823.1 r.? - - Del intronic D 24455862 24455872 3 12 272.969 - - 3 1 1 CABIN1|CCDS13823.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CABIN1|CCDS13823.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 3 6 31 24 31 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221182 22 24599170 CA C 480 PASS - - - - - Del - D 24599170 24599180 1 25 436.75 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 4 4 4 36 30 36 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221207 22 24678629 A AT 300 PASS CYTSA CCDS33619.1 r.? - - Ins intronic I 24678629 24678637 1 6 268.754 - - 7 1 1 CYTSA|CCDS33619.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CYTSA|CCDS33619.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 10 0 0 ./. 5 0 6 1 27 25 28 26 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221248 22 24872572 AT A 269 PASS C22orf45 ENST00000326341 r.? - - Del intronic D 24872572 24872582 1 10 272.969 - - 9 1 1 C22orf45|ENST00000326341|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C22orf45|ENST00000326341|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 1 4 2 6 16 34 16 34 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221291 22 24983086 GT G 300 PASS GGT1 CCDS42992.1 r.? - - Del intronic D 24983086 24983094 1 12 272.969 - - 7 1 1 GGT1|CCDS42992.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GGT1|CCDS42992.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 2 3 5 3 20 33 20 33 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221297 22 24993352 G GT 509 PASS GGT1 CCDS42992.1 r.? - - Ins intronic I 24993352 24993359 1 18 485.323 - - 6 1 1 GGT1|CCDS42992.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GGT1|CCDS42992.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 8 1 9 4 26 32 26 33 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221549 22 25501711 CT C 420 PASS KIAA1671 CCDS46676.1 r.? - - Del intronic D 25501711 25501716 1 14 379.748 - - 4 1 1 KIAA1671|CCDS46676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1671|CCDS46676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 1 8 2 29 15 29 15 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221581 22 25598073 GCTT G 569 PASS KIAA1671 CCDS46676.1 r.? - - Del downstream D 25598073 25598080 3 36 541.121 - - 2 1 1 KIAA1671|CCDS46676.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CRYBB3|CCDS13830.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 5 6 5 33 33 33 33 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221636 22 25682531 C CA 251 PASS - - - - - Ins - I 25682531 25682538 1 35 537.508 - - 6 1 1 - - ./. 0 0 0 0 12 10 12 11 0 0 ./. 6 4 8 5 32 31 32 31 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221851 22 26255653 AT A 420 PASS MYO18B ENST00000335473 r.? - - Del intronic D 26255653 26255662 1 20 382.156 - - 8 1 1 MYO18B|ENST00000335473|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO18B|ENST00000335473|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 4 3 5 25 15 25 15 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760221929 22 26558775 TA T 420 PASS - - - - - Del - D 26558775 26558783 1 20 382.156 - - 7 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 4 4 5 30 25 30 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760222004 22 26820170 CT C 360 PASS - - - - - Del - D 26820170 26820179 1 12 325.154 - - 8 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 1 7 2 28 7 28 7 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760222134 22 27079698 AT A 420 PASS - - - - - Del - D 27079698 27079708 1 20 380.952 - - 9 1 1 - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 4 3 5 6 26 23 26 23 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760222179 22 27191349 AT A 360 PASS - - - - - Del - D 27191349 27191355 1 15 327.562 - - 5 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 4 2 5 2 25 25 25 25 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760222384 22 27750722 C CA 300 PASS - - - - - Ins - I 27750722 27750731 1 12 261.529 - - 8 1 1 - - ./. 0 0 0 0 8 14 8 15 0 0 ./. 2 3 5 5 31 33 31 33 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760222415 22 27819579 AT A 480 PASS - - - - - Del - D 27819579 27819588 1 25 436.75 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 4 4 4 4 16 17 16 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760222452 22 27932592 A AT 300 PASS - - - - - Ins - I 27932592 27932600 1 12 269.958 - - 7 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 3 2 5 4 27 29 28 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760222537 22 28187115 AG A 480 PASS MN1 CCDS42998.1 r.? - - Del intronic D 28187115 28187122 1 24 434.943 - - 6 1 1 MN1|CCDS42998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MN1|CCDS42998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 5 4 6 22 24 22 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760222612 22 28628345 CA C 360 PASS TTC28 CCDS46678.1 r.? - - Del intronic D 28628345 28628354 1 16 327.562 - - 8 1 1 TTC28|CCDS46678.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC28|CCDS46678.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 3 4 5 22 21 22 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760222747 22 29154134 GTC G 300 PASS HSCB CCDS13845.1 r.? - - Del downstream D 29154134 29154140 2 12 271.764 - - 2 1 1 HSCB|CCDS13845.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 HSCB|CCDS13845.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 3 3 15 23 15 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760222846 22 29423945 A AG 480 PASS ZNRF3 CCDS42999.1 r.? - - Ins intronic I 29423945 29423952 1 24 431.933 - - 6 1 1 ZNRF3|CCDS42999.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNRF3|CCDS42999.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 3 5 4 28 29 28 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760223138 22 30026369 CA C 420 PASS NF2 CCDS13861.1 r.? - - Del intronic D 30026369 30026378 1 14 382.156 - - 8 1 1 NF2|CCDS13861.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NF2|CCDS13861.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 6 2 7 18 29 18 29 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760223254 22 30302008 AT A 480 PASS MTMR3 CCDS13871.1 r.? - - Del intronic D 30302008 30302017 1 24 436.75 - - 8 1 1 MTMR3|CCDS13871.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MTMR3|CCDS13871.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 3 5 5 24 23 24 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760223407 22 30804417 CA C 269 PASS SEC14L2 CCDS13876.1 r.? - - Del intronic D 30804417 30804426 1 12 271.764 - - 8 1 1 SEC14L2|CCDS13876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEC14L2|CCDS13876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 2 3 23 19 23 19 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760223409 22 30808246 CA C 300 PASS SEC14L2 CCDS13876.1 r.? - - Del intronic D 30808246 30808255 1 10 271.764 - - 8 1 1 SEC14L2|CCDS13876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEC14L2|CCDS13876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 1 4 1 5 19 31 19 31 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760223507 22 31062796 TA T 360 PASS DUSP18 CCDS13883.1 r.1051delU c.? p.? Del 5'UTR variant D 31062796 31062801 1 15 326.358 - - 4 1 1 DUSP18|CCDS13883.1|r.1051delU|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 DUSP18|CCDS13883.1|r.1051delU|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 2 6 3 26 14 26 14 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760223582 22 31219974 GT G 420 PASS OSBP2 CCDS43002.1 r.? - - Del intronic D 31219974 31219983 1 18 380.952 - - 8 1 1 OSBP2|CCDS43002.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OSBP2|CCDS43002.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 5 5 6 30 40 30 40 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760223899 22 31913644 CT C 420 PASS SFI1 CCDS43005.1 r.? - - Del intronic D 31913644 31913654 1 20 382.156 - - 9 1 1 SFI1|CCDS43005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFI1|CCDS43005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 15 4 15 0 0 ./. 3 4 5 6 35 31 35 31 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760223903 22 31920792 AT A 509 PASS SFI1 CCDS43005.1 r.? - - Del intronic D 31920792 31920802 1 24 491.343 - - 9 1 1 SFI1|CCDS43005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFI1|CCDS43005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 7 2 8 3 34 9 34 9 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224049 22 32334104 G GA 300 PASS C22orf24 CCDS46693.1 r.119-4_119-3insu c.? p.? Ins splice region I 32334104 32334114 1 10 269.958 - - 9 1 1 C22orf24|CCDS46693.1|r.119-4_119-3insu|c.?|p.?|protein_coding:five_prime_UTR:extended_intronic_splice_region:insertion:5_prime_UTR_variant:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000204:SO:CGPX05:SO:0000667:SO:0001623:SO:CGPX04:SO:0001576 C22orf24|CCDS46693.1|r.119-4_119-3insu|c.?|p.?|protein_coding:five_prime_UTR:extended_intronic_splice_region:insertion:5_prime_UTR_variant:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000204:SO:CGPX05:SO:0000667:SO:0001623:SO:CGPX04:SO:0001576 ./. 0 0 0 0 10 14 11 14 0 0 ./. 1 4 3 5 31 33 31 33 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224050 22 32334104 GA G 360 PASS C22orf24 CCDS46693.1 r.119-4delu c.? p.? Del splice region D 32334104 32334114 1 12 327.562 - - 9 1 1 C22orf24|CCDS46693.1|r.119-4delu|c.?|p.?|protein_coding:five_prime_UTR:extended_intronic_splice_region:deletion:5_prime_UTR_variant:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000204:SO:CGPX05:SO:0000159:SO:0001623:SO:CGPX04:SO:0001576 C22orf24|CCDS46693.1|r.119-4delu|c.?|p.?|protein_coding:five_prime_UTR:extended_intronic_splice_region:deletion:5_prime_UTR_variant:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000204:SO:CGPX05:SO:0000159:SO:0001623:SO:CGPX04:SO:0001576 ./. 0 0 0 0 10 14 10 14 0 0 ./. 1 5 3 6 30 32 30 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224076 22 32369192 CT C 300 PASS - - - - - Del - D 32369192 32369197 1 12 272.366 - - 4 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 2 3 25 28 25 28 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224140 22 32577373 AC A 360 PASS - - - - - Del - D 32577373 32577381 1 16 327.562 - - 7 1 1 - - ./. 0 0 0 0 5 5 5 5 0 0 ./. 3 3 4 4 20 30 20 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224244 22 32813339 AT A 660 PASS BPIL2 CCDS13906.1 r.? - - Del intronic D 32813339 32813348 1 40 599.929 - - 8 1 1 BPIL2|CCDS13906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BPIL2|CCDS13906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 7 4 8 4 27 23 27 23 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224288 22 32912865 T TA 420 PASS SYN3 CCDS13908.1 r.? - - Ins intronic I 32912865 32912874 1 20 377.942 - - 8 1 1 SYN3|CCDS13908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SYN3|CCDS13908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 3 5 3 30 24 30 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224425 22 33227833 AC A 300 PASS TIMP3 CCDS13911.1 r.? - - Del intronic D 33227833 33227842 1 10 272.969 - - 8 1 1 TIMP3|CCDS13911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TIMP3|CCDS13911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 1 5 1 25 28 25 28 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224442 22 33267225 TA T 360 PASS SYN3 CCDS13908.1 r.? - - Del intronic D 33267225 33267233 1 12 327.562 - - 7 1 1 SYN3|CCDS13908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYN3|CCDS13908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 1 5 1 6 10 36 10 36 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224658 22 33830825 GC G 420 PASS LARGE CCDS13912.1 r.? - - Del intronic D 33830825 33830833 1 18 380.952 - - 7 1 1 LARGE|CCDS13912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LARGE|CCDS13912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 5 6 5 30 27 30 27 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224666 22 33860528 CA C 480 PASS LARGE CCDS13912.1 r.? - - Del intronic D 33860528 33860537 1 16 431.331 - - 8 1 1 LARGE|CCDS13912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LARGE|CCDS13912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 7 1 7 1 25 20 25 20 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224737 22 34026184 C CA 360 PASS LARGE CCDS13912.1 r.? - - Ins intronic I 34026184 34026194 1 12 323.95 - - 9 1 1 LARGE|CCDS13912.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LARGE|CCDS13912.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 1 7 2 29 26 30 26 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224799 22 34181634 GA G 300 PASS LARGE CCDS13912.1 r.? - - Del intronic D 34181634 34181643 1 12 272.969 - - 8 1 1 LARGE|CCDS13912.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LARGE|CCDS13912.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 2 3 4 4 24 18 24 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224841 22 34268831 C CA 540 PASS LARGE CCDS13912.1 r.? - - Ins intronic I 34268831 34268839 1 24 485.925 - - 7 1 1 LARGE|CCDS13912.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LARGE|CCDS13912.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 7 2 9 2 31 15 31 16 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224863 22 34324910 C CA 300 PASS - - - - - Ins - I 34324910 34324918 1 10 269.356 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 1 5 3 31 30 31 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760224901 22 34428578 AT A 360 PASS ENSG00000230919 ENST00000412664 r.? - - Del upstream D 34428578 34428587 1 16 327.562 - - 8 1 1 ENSG00000230919|ENST00000412664|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000230919|ENST00000412664|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 18 15 18 15 0 0 ./. 3 3 4 3 20 11 20 11 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225052 22 34785309 AT A 360 PASS - - - - - Del - D 34785309 34785319 1 16 327.562 - - 9 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 3 3 3 5 28 35 28 35 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225103 22 34960113 AT A 420 PASS - - - - - Del - D 34960113 34960121 1 14 382.156 - - 7 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 6 1 8 1 32 14 32 14 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225284 22 35477852 CT C 360 PASS ISX CCDS33640.1 r.? - - Del intronic D 35477852 35477858 1 16 327.562 - - 5 1 1 ISX|CCDS33640.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ISX|CCDS33640.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 3 3 5 2 27 25 27 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225410 22 35784806 CA C 420 PASS HMOX1 CCDS13914.1 r.? - - Del intronic D 35784806 35784816 1 18 382.156 - - 9 1 1 HMOX1|CCDS13914.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMOX1|CCDS13914.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 5 7 5 36 21 36 21 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225460 22 35856299 GA G 457 PASS - - - - - Del - D 35856299 35856309 1 25 433.137 - - 9 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 4 8 7 29 35 29 35 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225507 22 35988839 TTCTC T 300 PASS - - - - - Del - D 35988839 35988851 4 12 272.366 - - 5 1 - - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 2 3 2 5 29 28 29 28 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225582 22 36121324 GT G 480 PASS APOL5 CCDS13920.1 r.? - - Del intronic D 36121324 36121332 1 24 436.75 - - 7 1 - APOL5|CCDS13920.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APOL5|CCDS13920.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 5 3 5 7 32 25 32 25 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225697 22 36549165 AT A 600 PASS APOL3 CCDS13924.1 r.? - - Del intronic D 36549165 36549167 1 36 545.937 - - 1 1 1 APOL3|CCDS13924.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 APOL3|CCDS13924.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 5 6 5 25 27 25 27 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225724 22 36654195 TC T 420 PASS APOL1 CCDS13925.1 r.? - - Del intronic D 36654195 36654204 1 18 382.156 - - 8 1 1 APOL1|CCDS13925.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APOL1|CCDS13925.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 2 7 3 37 18 37 18 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225766 22 36742653 C CT 420 PASS MYH9 CCDS13927.1 r.? - - Ins intronic I 36742653 36742662 1 20 377.942 - - 8 1 1 MYH9|CCDS13927.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYH9|CCDS13927.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 4 5 4 31 42 31 42 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225776 22 36784800 CT C 600 PASS MYH9 CCDS13927.1 r.? - - Del upstream D 36784800 36784810 1 35 545.937 - - 9 1 1 MYH9|CCDS13927.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 MYH9|CCDS13927.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 4 6 5 20 37 20 37 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225959 22 37169403 CA C 300 PASS RABL4 CCDS13932.1 r.? - - Del intronic D 37169403 37169413 1 6 268.152 - - 9 1 1 RABL4|CCDS13932.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RABL4|CCDS13932.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 0 5 4 6 29 29 29 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760225978 22 37222290 TA T 480 PASS - - - - - Del - D 37222290 37222298 1 24 436.148 - - 7 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 5 4 6 20 23 20 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760226248 22 37989459 A AT 290 PASS - - - - - Ins - I 37989459 37989466 1 12 269.958 - - 6 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 2 4 3 28 29 28 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760226271 22 38051634 TC T 598 PASS SH3BP1 CCDS13952.2 r.2363delC c.2050delC p.P685fs*24 Del frameshift D 38051634 38051640 1 36 595.714 - - 5 1 1 SH3BP1|CCDS13952.2|r.2363delC|c.2050delC|p.P685fs*24|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SH3BP1|CCDS13952.2|r.2363delC|c.2050delC|p.P685fs*24|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 4 7 4 0 0 ./. 8 3 8 3 20 10 20 10 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760226513 22 38638658 CG C 389 PASS TMEM184B CCDS13969.2 r.? - - Del intronic D 38638658 38638666 1 18 382.156 - - 7 1 1 TMEM184B|CCDS13969.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM184B|CCDS13969.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 5 5 6 18 29 18 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760226612 22 38907600 GA G 300 PASS DDX17 ENST00000432525 r.? - - Del upstream D 38907600 38907610 1 12 272.969 - - 9 1 1 DDX17|ENST00000432525|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 DDX17|ENST00000432525|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 4 10 4 10 0 0 ./. 2 3 3 4 29 17 29 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760226737 22 39207015 CA C 300 PASS - - - - - Del - D 39207015 39207024 1 12 271.764 - - 8 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 3 2 4 18 19 18 19 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760227144 22 40421259 TA T 360 PASS FAM83F CCDS14000.2 r.? - - Del intronic D 40421259 40421269 1 15 326.358 - - 9 1 1 FAM83F|CCDS14000.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM83F|CCDS14000.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 2 4 6 24 25 24 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760227207 22 40563894 C CA 300 PASS TNRC6B CCDS46712.1 r.? - - Ins intronic I 40563894 40563901 1 12 269.958 - - 6 1 1 TNRC6B|CCDS46712.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TNRC6B|CCDS46712.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 3 2 6 6 29 29 29 29 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760227444 22 41221879 CA C 336 PASS FAM10A4 CCDS14006.1 r.2254delU c.? p.? Del 3'UTR variant D 41221879 41221888 1 16 326.96 - - 8 1 1 FAM10A4|CCDS14006.1|r.2254delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 FAM10A4|CCDS14006.1|r.2254delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 3 4 3 23 19 23 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760227585 22 41523300 AT A 300 PASS MIR1281 CCDS14010.1 r.? - - Del intronic D 41523300 41523309 1 12 272.969 - - 8 1 1 MIR1281|CCDS14010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR1281|CCDS14010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 3 3 24 24 24 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760227638 22 41624178 GA G 480 PASS L3MBTL2 CCDS14011.1 r.? - - Del intronic D 41624178 41624186 1 21 436.75 - - 7 1 1 L3MBTL2|CCDS14011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 L3MBTL2|CCDS14011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 6 2 7 21 30 21 30 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760227693 22 41756653 CG C 300 PASS ZC3H7B CCDS14013.1 r.? - - Del downstream D 41756653 41756661 1 10 271.764 - - 7 1 1 ZC3H7B|CCDS14013.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZC3H7B|CCDS14013.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 14 5 14 0 0 ./. 4 1 6 2 23 16 23 16 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760228049 22 42584993 TAAAG T 298 PASS TCF20 CCDS14033.1 r.? - - Del intronic D 42584993 42584999 4 15 327.562 - - 1 1 1 TCF20|CCDS14033.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF20|CCDS14033.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 2 4 3 26 16 26 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760228402 22 43332055 TA T 505 PASS PACSIN2 CCDS43023.1 r.? - - Del intronic D 43332055 43332064 1 32 545.937 - - 8 1 1 PACSIN2|CCDS43023.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PACSIN2|CCDS43023.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 7 3 7 6 31 36 31 36 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760228528 22 43553869 AT A 420 PASS TSPO CCDS33661.1 r.? - - Del intronic D 43553869 43553876 1 20 380.35 - - 6 1 1 TSPO|CCDS33661.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TSPO|CCDS33661.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 5 16 5 0 0 ./. 3 4 4 5 33 22 33 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760228599 22 43776122 G GA 269 PASS - - - - - Ins - I 43776122 43776131 1 12 263.938 - - 8 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 2 3 2 27 26 27 26 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760228840 22 44469373 CA C 480 PASS PARVB CCDS14056.1 r.? - - Del intronic D 44469373 44469382 1 25 434.943 - - 8 1 1 PARVB|CCDS14056.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARVB|CCDS14056.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 4 4 8 16 28 16 28 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760228847 22 44504813 GA G 360 PASS PARVB CCDS14056.1 r.? - - Del intronic D 44504813 44504822 1 20 373.125 - - 8 1 1 PARVB|CCDS14056.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARVB|CCDS14056.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 4 7 5 33 17 33 17 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760228849 22 44507500 A AT 269 PASS PARVB CCDS14056.1 r.? - - Ins intronic I 44507500 44507509 1 10 269.958 - - 8 1 1 PARVB|CCDS14056.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARVB|CCDS14056.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 1 4 3 5 32 20 32 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760228934 22 44704491 TC T 300 PASS KIAA1644 CCDS43025.1 r.? - - Del intronic D 44704491 44704497 1 12 272.366 - - 5 1 1 KIAA1644|CCDS43025.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1644|CCDS43025.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 2 4 24 29 24 29 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760229040 22 45033904 AT A 300 PASS - - - - - Del - D 45033904 45033914 1 6 271.764 - - 9 1 1 - - ./. 0 0 0 0 5 5 5 5 0 0 ./. 0 5 0 5 0 28 0 28 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760229266 22 45534295 GA G 360 PASS - - - - - Del - D 45534295 45534304 1 15 327.562 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 2 4 4 29 16 29 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760229366 22 45716261 C CA 360 PASS FAM118A CCDS14065.1 r.? - - Ins intronic I 45716261 45716271 1 15 320.338 - - 9 1 1 FAM118A|CCDS14065.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FAM118A|CCDS14065.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 20 9 20 0 0 ./. 2 4 6 6 31 38 32 38 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760229413 22 45800281 G GA 480 PASS SMC1B CCDS43027.1 r.? - - Ins intronic I 45800281 45800289 1 21 431.933 - - 7 1 1 SMC1B|CCDS43027.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMC1B|CCDS43027.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 2 6 2 30 20 30 22 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760229488 22 46023183 CA C 480 PASS - - - - - Del - D 46023183 46023193 1 24 436.75 - - 9 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 3 5 4 7 25 21 25 21 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760229492 22 46031232 C CA 300 PASS - - - - - Ins - I 46031232 46031242 1 10 269.958 - - 9 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 4 1 5 2 33 33 33 33 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760229578 22 46344470 TC T 420 PASS WNT7B CCDS33667.1 r.? - - Del intronic D 46344470 46344479 1 14 380.952 - - 8 1 1 WNT7B|CCDS33667.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WNT7B|CCDS33667.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 1 6 2 8 13 27 13 27 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760229612 22 46431285 A AT 660 PASS - - - - - Ins - I 46431285 46431292 1 40 593.908 - - 6 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 7 6 9 35 34 35 34 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760229751 22 46826524 AC A 329 PASS CELSR1 CCDS14076.1 r.? - - Del intronic D 46826524 46826530 1 15 323.348 - - 5 1 1 CELSR1|CCDS14076.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CELSR1|CCDS14076.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 4 2 5 2 33 14 33 14 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760229913 22 47175286 C CT 417 PASS TBC1D22A CCDS14078.1 r.? - - Ins intronic I 47175286 47175295 1 20 377.942 - - 8 1 1 TBC1D22A|CCDS14078.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TBC1D22A|CCDS14078.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 4 7 4 31 18 31 18 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760230015 22 47519189 GC G 300 PASS TBC1D22A CCDS14078.1 r.? - - Del intronic D 47519189 47519195 1 10 272.969 - - 5 1 1 TBC1D22A|CCDS14078.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D22A|CCDS14078.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 1 6 1 34 24 34 24 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760230293 22 48368878 C CT 360 PASS - - - - - Ins - I 48368878 48368886 1 16 323.95 - - 7 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 3 4 5 43 19 45 19 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760230438 22 48759269 A AC 300 PASS - - - - - Ins - I 48759269 48759277 1 12 268.152 - - 7 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 2 4 2 33 40 34 40 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760230496 22 48873705 CA C 360 PASS - - - - - Del - D 48873705 48873713 1 12 327.562 - - 7 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 5 1 5 31 25 31 25 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760230498 22 48882111 AC A 300 PASS FAM19A5 CCDS46728.1 r.? - - Del upstream D 48882111 48882118 1 12 272.969 - - 6 1 1 FAM19A5|CCDS46728.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 FAM19A5|CCDS46728.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 6 16 6 0 0 ./. 3 2 4 5 28 26 28 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760230514 22 48974672 GA G 300 PASS FAM19A5 CCDS46729.1 r.? - - Del intronic D 48974672 48974674 1 12 267.55 - - 1 1 1 FAM19A5|CCDS46729.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM19A5|CCDS46729.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 3 4 26 18 26 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760230589 22 49158697 T TA 360 PASS FAM19A5 ENST00000336769 r.? - - Ins intronic I 49158697 49158706 1 16 323.95 - - 8 1 1 FAM19A5|ENST00000336769|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM19A5|ENST00000336769|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 18 23 18 0 0 ./. 3 3 4 3 24 14 24 14 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760230963 22 50043836 TA T 420 PASS C22orf34 ENST00000380976 r.? - - Del intronic D 50043836 50043844 1 20 381.554 - - 7 1 1 C22orf34|ENST00000380976|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C22orf34|ENST00000380976|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 3 6 6 26 31 26 31 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760230993 22 50130389 TG T 449 PASS - - - - - Del - D 50130389 50130397 1 16 436.75 - - 7 1 1 - - ./. 0 0 0 0 2 8 2 8 0 0 ./. 1 7 1 7 6 34 6 34 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760231014 22 50213777 CA C 300 PASS BRD1 CCDS14080.1 r.? - - Del intronic D 50213777 50213786 1 12 271.162 - - 8 1 1 BRD1|CCDS14080.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRD1|CCDS14080.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 3 6 3 27 25 27 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760231030 22 50246153 AT A 360 PASS ZBED4 CCDS33677.1 r.? - - Del upstream D 50246153 50246163 1 12 326.96 - - 9 1 1 ZBED4|CCDS33677.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ZBED4|CCDS33677.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 3 13 3 0 0 ./. 1 5 4 5 28 18 28 18 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760231034 22 50257352 CTCT C 329 PASS ZBED4 CCDS33677.1 r.? - - Del intronic D 50257352 50257360 3 15 327.562 - - 2 1 1 ZBED4|CCDS33677.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZBED4|CCDS33677.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 2 5 2 27 21 27 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760231150 22 50656548 TG T 480 PASS TUBGCP6 CCDS14087.1 r.5274-3delc c.5169-3delc p.? Del splice region D 50656548 50656555 1 25 436.148 - - 6 1 1 TUBGCP6|CCDS14087.1|r.5274-3delc|c.5169-3delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 TUBGCP6|CCDS14087.1|r.5274-3delc|c.5169-3delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 4 5 5 33 35 33 35 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760231215 22 50805485 TA T 540 PASS SAPS2 CCDS33681.1 r.? - - Del intronic D 50805485 50805492 1 30 490.139 - - 6 1 1 SAPS2|CCDS33681.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SAPS2|CCDS33681.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 4 6 4 31 21 31 21 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760231247 22 50849883 CA C 300 PASS SAPS2 CCDS33681.1 r.? - - Del intronic D 50849883 50849893 1 12 272.366 - - 9 1 1 SAPS2|CCDS33681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SAPS2|CCDS33681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 2 3 3 5 23 24 23 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760231370 22 51217969 TG T 255 PASS RABL2B CCDS33683.1 r.? - - Del intronic D 51217969 51217978 1 10 272.969 - - 8 1 1 RABL2B|CCDS33683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RABL2B|CCDS33683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 3 5 27 24 27 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760231542 3 673987 GA G 420 PASS - - - - - Del - D 673987 673996 1 20 377.361 - - 8 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 4 3 5 16 18 16 18 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760231620 3 1006694 GA G 420 PASS - - - - - Del - D 1006694 1006703 1 14 377.963 - - 8 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 1 6 1 7 24 33 24 33 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760231693 3 1260464 CA C 300 PASS CNTN6 CCDS2557.1 r.? - - Del intronic D 1260464 1260474 1 12 269.973 - - 9 1 1 CNTN6|CCDS2557.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN6|CCDS2557.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 5 2 17 17 17 17 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760232069 3 2262593 G GA 420 PASS CNTN4 CCDS43041.1 r.? - - Ins intronic I 2262593 2262600 1 20 373.748 - - 6 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 4 4 4 16 21 16 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760232214 3 2686670 GA G 300 PASS CNTN4 CCDS43041.1 r.? - - Del intronic D 2686670 2686679 1 12 269.973 - - 8 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 3 3 20 20 20 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760232221 3 2703580 GT G 420 PASS CNTN4 CCDS43041.1 r.? - - Del intronic D 2703580 2703587 1 18 377.963 - - 6 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 12 21 12 0 0 ./. 5 2 6 2 18 15 18 15 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760232295 3 2846421 CT C 329 PASS CNTN4 CCDS43041.1 r.? - - Del intronic D 2846421 2846431 1 12 323.968 - - 9 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 10 27 10 0 0 ./. 1 5 1 7 23 24 23 24 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760232322 3 2945429 CT C 420 PASS CNTN4 CCDS43041.1 r.? - - Del intronic D 2945429 2945438 1 20 377.963 - - 8 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 3 4 3 14 17 14 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760232583 3 3768800 C CA 360 PASS - - - - - Ins - I 3768800 3768805 1 15 320.356 - - 4 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 4 2 6 22 24 23 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760232888 3 4711839 G GT 420 PASS ITPR1 CCDS46740.1 r.? - - Ins intronic I 4711839 4711842 1 20 373.748 - - 2 1 1 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 6 10 7 0 0 ./. 3 4 5 5 26 23 26 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760232898 3 4734808 C CA 420 PASS ITPR1 CCDS46740.1 r.? - - Ins intronic I 4734808 4734817 1 20 370.136 - - 8 1 1 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 3 5 4 19 21 19 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760233211 3 5562554 AT A 360 PASS - - - - - Del - D 5562554 5562563 1 15 323.968 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 2 6 2 31 18 31 18 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760233498 3 6575088 G GA 480 PASS - - - - - Ins - I 6575088 6575096 1 24 427.141 - - 7 1 1 - - ./. 0 0 0 0 15 23 16 23 0 0 ./. 3 5 3 6 27 24 27 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760233641 3 7278065 AT A 360 PASS GRM7 CCDS43042.1 r.? - - Del intronic D 7278065 7278072 1 15 323.968 - - 6 1 1 GRM7|CCDS43042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM7|CCDS43042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 2 5 3 15 22 15 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760233811 3 7902635 CT C 300 PASS - - - - - Del - D 7902635 7902644 1 12 269.973 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 4 6 17 25 17 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760234088 3 8848857 CT C 360 PASS RAD18 ENST00000427329 r.? - - Del intronic D 8848857 8848865 1 15 323.968 - - 7 1 1 RAD18|ENST00000427329|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAD18|ENST00000427329|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 2 5 2 19 15 19 15 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760234190 3 9274308 CA C 420 PASS SRGAP3 CCDS33689.1 r.? - - Del intronic D 9274308 9274317 1 20 377.963 - - 8 1 1 SRGAP3|CCDS33689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRGAP3|CCDS33689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 3 7 3 20 10 20 10 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760234643 3 11025761 TA T 420 PASS - - - - - Del - D 11025761 11025764 1 20 377.361 - - 2 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 3 9 4 24 12 24 12 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760234703 3 11275761 AT A 449 PASS HRH1 CCDS2604.1 r.? - - Del intronic D 11275761 11275770 1 16 428.947 - - 8 1 1 HRH1|CCDS2604.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HRH1|CCDS2604.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 1 7 2 10 28 32 28 32 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760235399 3 13304230 TA T 300 PASS - - - - - Del - D 13304230 13304236 1 12 269.973 - - 5 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 3 4 20 20 20 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760235472 3 13574919 CT C 360 PASS - - - - - Del - D 13574919 13574927 1 16 322.162 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 5 6 26 23 26 23 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760235494 3 13644204 TG T 480 PASS FBLN2 CCDS46761.1 r.? - - Del intronic D 13644204 13644210 1 25 431.957 - - 5 1 1 FBLN2|CCDS46761.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBLN2|CCDS46761.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 4 5 4 15 24 15 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760235830 3 14925958 CCTT C 267 PASS FGD5 CCDS46767.1 r.? - - Del intronic D 14925958 14925965 3 15 322.764 - - 2 1 1 FGD5|CCDS46767.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGD5|CCDS46767.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 17 4 17 0 0 ./. 4 2 4 3 20 22 20 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760236213 3 16372368 ATCT A 389 PASS RFTN1 CCDS33712.1 r.? - - Del intronic D 16372368 16372375 3 20 376.758 - - 2 1 1 RFTN1|CCDS33712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RFTN1|CCDS33712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 4 5 5 25 24 25 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760236379 3 16880102 CTT C 629 PASS - - - - - Del - D 16880102 16880106 2 42 593.941 - - 3 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 6 5 6 6 30 24 30 24 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760236539 3 17757295 TA T 360 PASS TBC1D5 CCDS33714.1 r.? - - Del intronic D 17757295 17757304 1 15 319.151 - - 8 1 1 TBC1D5|CCDS33714.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TBC1D5|CCDS33714.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 4 4 5 24 18 24 18 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760236664 3 18458583 TGAA T 480 PASS SATB1 CCDS2631.1 r.? - - Del intronic D 18458583 18458595 3 25 431.957 - - 3 1 1 SATB1|CCDS2631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SATB1|CCDS2631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 4 5 4 18 20 18 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760236965 3 20070136 TAG T 420 PASS - - - - - Del - D 20070136 20070145 2 20 377.963 - - 4 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 4 3 4 27 8 27 8 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760236995 3 20169988 GT G 420 PASS KAT2B CCDS2634.1 r.? - - Del intronic D 20169988 20169998 1 18 377.963 - - 9 1 - KAT2B|CCDS2634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KAT2B|CCDS2634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 6 20 6 0 0 ./. 2 5 5 6 24 29 24 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760237029 3 20330726 CT C 300 PASS - - - - - Del - D 20330726 20330734 1 6 269.371 - - 7 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 0 5 0 6 1 16 1 16 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760237070 3 20489411 TA T 360 PASS - - - - - Del - D 20489411 20489420 1 12 323.968 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 1 6 2 25 12 25 12 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760237407 3 21782806 C CT 300 PASS ZNF385D CCDS2636.1 r.? - - Ins intronic I 21782806 21782811 1 10 266.963 - - 4 1 1 ZNF385D|CCDS2636.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF385D|CCDS2636.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 4 1 6 12 22 12 22 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760237657 3 22735289 TA T 300 PASS - - - - - Del - D 22735289 22735299 1 6 269.973 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 0 6 0 22 4 22 4 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760237764 3 23233373 GA G 420 PASS - - - - - Del - D 23233373 23233383 1 14 377.963 - - 9 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 1 6 1 9 14 31 14 31 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760237914 3 23770722 C CT 300 PASS - - - - - Ins - I 23770722 23770731 1 10 266.361 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 1 5 2 23 13 23 13 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760237974 3 23968004 CT C 720 PASS NKIRAS1 CCDS33717.1 r.? - - Del intronic D 23968004 23968014 1 49 647.334 - - 9 1 1 NKIRAS1|CCDS33717.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NKIRAS1|CCDS33717.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 6 6 8 6 19 27 19 27 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760238013 3 24108862 A ATG 300 PASS - - - - - Ins - I 24108862 24108876 2 10 263.953 - - 6 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 1 4 3 4 22 18 23 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760238317 3 25444114 TA T 540 PASS RARB ENST00000404969 r.? - - Del intronic D 25444114 25444121 1 30 485.952 - - 6 1 1 RARB|ENST00000404969|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RARB|ENST00000404969|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 5 5 5 25 17 25 17 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760238447 3 25899680 C CT 480 PASS ENSG00000230891 ENST00000451284 r.? - - Ins downstream I 25899680 25899685 1 21 427.141 - - 4 1 1 ENSG00000230891|ENST00000451284|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ENSG00000230891|ENST00000451284|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 11 12 11 13 0 0 ./. 2 6 3 6 16 21 16 21 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760238486 3 26013494 CT C 540 PASS - - - - - Del - D 26013494 26013501 1 28 485.952 - - 6 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 6 3 6 23 24 23 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760238702 3 27029320 CCTT C 420 PASS - - - - - Del - D 27029320 27029326 3 14 377.963 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 1 7 1 27 12 27 12 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760238753 3 27171791 TCTC T 360 PASS NEK10 ENST00000396636 r.? - - Del intronic D 27171791 27171797 3 15 323.968 - - 1 1 1 NEK10|ENST00000396636|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEK10|ENST00000396636|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 4 2 4 2 11 16 11 16 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760238977 3 28093926 ATG A 600 PASS - - - - - Del - D 28093926 28093937 2 27 539.947 - - 5 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 8 2 10 2 23 18 23 18 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760239080 3 28662261 TA T 358 PASS - - - - - Del - D 28662261 28662269 1 18 377.963 - - 7 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 2 6 3 15 20 15 20 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760239113 3 28758373 TA T 569 PASS - - - - - Del - D 28758373 28758382 1 35 538.14 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 6 4 8 6 26 27 26 27 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760239157 3 28891817 TA T 300 PASS - - - - - Del - D 28891817 28891826 1 12 268.769 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 4 2 21 5 21 5 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760239276 3 29375999 AT A 360 PASS RBMS3 CCDS33725.1 r.? - - Del intronic D 29375999 29376009 1 15 323.968 - - 9 1 1 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 2 5 3 18 6 18 6 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760239335 3 29557926 GT G 360 PASS RBMS3 CCDS33725.1 r.? - - Del intronic D 29557926 29557936 1 12 323.968 - - 9 1 - RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 1 5 1 6 18 26 18 26 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760239359 3 29660153 GA G 300 PASS RBMS3 CCDS33725.1 r.? - - Del intronic D 29660153 29660163 1 12 269.973 - - 9 1 1 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 20 7 20 0 0 ./. 3 2 4 6 25 22 25 22 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760239732 3 31154283 TA T 300 PASS - - - - - Del - D 31154283 31154292 1 12 269.973 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 3 2 5 6 25 6 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760239843 3 31602034 AT A 360 PASS STT3B CCDS2650.1 r.? - - Del intronic D 31602034 31602044 1 12 323.366 - - 9 1 1 STT3B|CCDS2650.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STT3B|CCDS2650.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 5 1 7 3 19 21 19 21 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760240074 3 32406444 CT C 420 PASS CMTM8 CCDS2652.1 r.? - - Del intronic D 32406444 32406453 1 18 371.942 - - 8 1 1 CMTM8|CCDS2652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CMTM8|CCDS2652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 5 2 8 15 32 15 32 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760240130 3 32667403 TC T 349 PASS - - - - - Del - D 32667403 32667410 1 12 322.764 - - 6 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 1 6 1 21 12 21 12 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760240134 3 32714452 TA T 478 PASS - - - - - Del - D 32714452 32714462 1 30 485.952 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 5 5 6 17 20 17 20 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760240245 3 32997251 GC G 298 PASS CCR4 CCDS2656.1 r.2506delC c.? p.? Del 3'UTR variant D 32997251 32997257 1 16 323.968 - - 5 1 1 CCR4|CCDS2656.1|r.2506delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CCR4|CCDS2656.1|r.2506delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 3 3 3 8 3 8 3 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760240483 3 34018464 C CT 300 PASS - - - - - Ins - I 34018464 34018472 1 10 266.963 - - 7 1 1 - - ./. 0 0 0 0 10 7 11 7 0 0 ./. 4 1 5 2 22 26 23 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760240499 3 34086076 AG A 480 PASS - - - - - Del - D 34086076 34086083 1 24 430.753 - - 6 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 3 6 4 26 22 26 22 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760240575 3 34461860 TG T 360 PASS - - - - - Del - D 34461860 34461866 1 16 322.162 - - 5 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 3 3 4 3 22 17 22 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760240739 3 35111610 TA T 300 PASS - - - - - Del - D 35111610 35111616 1 12 269.973 - - 5 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 2 3 3 4 19 16 19 16 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760240774 3 35241146 A AT 420 PASS - - - - - Ins - I 35241146 35241153 1 18 372.544 - - 6 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 5 3 6 22 24 22 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760241060 3 36737666 CT C 420 PASS - - - - - Del - D 36737666 36737674 1 20 377.963 - - 7 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 4 6 7 22 17 22 17 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760241310 3 37567509 A AT 360 PASS ITGA9 CCDS2669.1 r.1584-8_1584-7insu c.1328-8_1328-7insT p.? Ins splice region I 37567509 37567514 1 15 319.754 - - 4 1 1 ITGA9|CCDS2669.1|r.1584-8_1584-7insu|c.1328-8_1328-7insT|p.?|protein_coding:CDS:extended_intronic_splice_region:insertion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000667:SO:CGPX04:SO:0001576 ITGA9|CCDS2669.1|r.1584-8_1584-7insu|c.1328-8_1328-7insT|p.?|protein_coding:CDS:extended_intronic_splice_region:insertion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000667:SO:CGPX04:SO:0001576 ./. 0 0 0 0 9 14 10 14 0 0 ./. 2 4 2 4 17 20 17 20 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760241375 3 37865455 GT G 389 PASS ITGA9 CCDS2669.1 r.? - - Del downstream D 37865455 37865465 1 18 376.758 - - 9 1 1 ITGA9|CCDS2669.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ITGA9|CCDS2669.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 2 7 2 17 17 17 17 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760241383 3 37934265 TG T 300 PASS CTDSPL CCDS33735.1 r.? - - Del intronic D 37934265 37934273 1 12 269.973 - - 7 1 1 CTDSPL|CCDS33735.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTDSPL|CCDS33735.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 11 2 11 0 0 ./. 2 3 2 4 14 22 14 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760241528 3 38666341 AT A 360 PASS SCN5A CCDS46796.1 r.? - - Del intronic D 38666341 38666351 1 12 323.968 - - 9 1 1 SCN5A|CCDS46796.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCN5A|CCDS46796.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 5 1 6 3 32 18 32 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760241554 3 38894243 GA G 300 PASS SCN11A CCDS33737.1 r.? - - Del intronic D 38894243 38894252 1 12 269.973 - - 8 1 1 SCN11A|CCDS33737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCN11A|CCDS33737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 2 3 2 20 14 20 14 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760241863 3 40048359 AT A 509 PASS MYRIP CCDS2689.1 r.? - - Del intronic D 40048359 40048368 1 30 485.952 - - 8 1 1 MYRIP|CCDS2689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYRIP|CCDS2689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 5 4 6 4 22 28 22 28 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760241953 3 40461902 A AT 254 PASS ENTPD3 CCDS2691.1 r.? - - Ins intronic I 40461902 40461912 1 10 264.555 - - 9 1 1 ENTPD3|CCDS2691.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENTPD3|CCDS2691.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 10 0 0 ./. 4 1 4 2 22 11 22 11 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760241984 3 40512805 TGA T 300 PASS - - - - - Del - D 40512805 40512821 2 10 269.973 - - 7 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 5 1 19 9 19 9 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760242172 3 41333487 A AT 300 PASS ULK4 CCDS43071.1 r.? - - Ins intronic I 41333487 41333497 1 12 266.963 - - 9 1 1 ULK4|CCDS43071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ULK4|CCDS43071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 3 3 6 13 25 13 25 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760242277 3 41693791 TA T 420 PASS ULK4 CCDS43071.1 r.? - - Del intronic D 41693791 41693801 1 18 375.554 - - 9 1 1 ULK4|CCDS43071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ULK4|CCDS43071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 5 4 8 25 24 25 24 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760242479 3 42122375 CT C 600 PASS - - - - - Del - D 42122375 42122385 1 35 539.947 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 4 8 4 26 20 26 20 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760242580 3 42433535 AT A 300 PASS - - - - - Del - D 42433535 42433545 1 12 268.769 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 3 3 27 25 27 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760242640 3 42651503 CT C 300 PASS NKTR CCDS2702.1 r.? - - Del intronic D 42651503 42651513 1 12 269.973 - - 9 1 1 NKTR|CCDS2702.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKTR|CCDS2702.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 2 3 2 6 18 29 18 29 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760242809 3 43350643 G GT 480 PASS SNRK CCDS43075.1 r.? - - Ins intronic I 43350643 43350653 1 25 422.926 - - 9 1 1 SNRK|CCDS43075.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNRK|CCDS43075.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 4 4 7 33 31 33 31 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760243002 3 44224719 GA G 480 PASS - - - - - Del - D 44224719 44224729 1 25 430.753 - - 9 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 4 5 5 22 19 22 19 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760243125 3 44574037 C CA 300 PASS - - - - - Ins - I 44574037 44574045 1 10 266.361 - - 7 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 1 4 3 4 21 22 21 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760243230 3 45029054 TA T 300 PASS EXOSC7 CCDS2725.1 r.? - - Del intronic D 45029054 45029064 1 12 269.973 - - 9 1 1 EXOSC7|CCDS2725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOSC7|CCDS2725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 3 13 3 0 0 ./. 3 2 5 4 23 30 23 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760243551 3 45917303 G GT 480 PASS - - - - - Ins - I 45917303 45917311 1 21 424.733 - - 7 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 6 4 7 21 29 21 29 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760243754 3 46717867 AG A 360 PASS ALS2CL CCDS2743.1 r.2137delC c.2053delC p.L685fs*8 Del frameshift D 46717867 46717873 1 16 323.968 - - 5 1 1 ALS2CL|CCDS2743.1|r.2137delC|c.2053delC|p.L685fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ALS2CL|CCDS2743.1|r.2137delC|c.2053delC|p.L685fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 5 11 5 0 0 ./. 3 3 3 3 24 22 24 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760243902 3 47216305 GT G 300 PASS - - - - - Del - D 47216305 47216315 1 12 269.973 - - 9 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 2 4 2 18 20 18 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760244386 3 48778880 AAAAG A 298 PASS AC121252.2 ENST00000501573 r.? - - Del intronic D 48778880 48778886 4 15 323.968 - - 1 1 1 AC121252.2|ENST00000501573|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC121252.2|ENST00000501573|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 4 2 4 2 20 22 20 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760244447 3 48969035 AT A 420 PASS ARIH2 CCDS2780.1 r.? - - Del intronic D 48969035 48969045 1 20 377.963 - - 9 1 1 ARIH2|CCDS2780.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARIH2|CCDS2780.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 4 3 5 18 26 18 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760244455 3 48987739 CT C 360 PASS ARIH2 CCDS2780.1 r.? - - Del intronic D 48987739 48987747 1 15 323.366 - - 7 1 1 ARIH2|CCDS2780.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARIH2|CCDS2780.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 4 2 4 3 18 19 18 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760244538 3 49289042 C CT 269 PASS CCDC36 CCDS33755.2 r.? - - Ins intronic I 49289042 49289052 1 10 266.963 - - 9 1 1 CCDC36|CCDS33755.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC36|CCDS33755.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 4 1 4 25 22 25 22 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760244545 3 49306203 CT C 420 PASS C3orf62 CCDS2792.1 r.? - - Del downstream D 49306203 49306213 1 18 377.963 - - 9 1 1 C3orf62|CCDS2792.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 C3orf62|CCDS2792.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 5 6 6 21 31 21 31 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760244582 3 49399721 TA T 389 PASS RHOA CCDS2795.1 r.? - - Del intronic D 49399721 49399729 1 20 367.126 - - 7 1 1 RHOA|CCDS2795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RHOA|CCDS2795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 3 4 5 5 19 14 19 14 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760244811 3 50021561 CA C 360 PASS RBM6 CCDS2809.1 r.? - - Del intronic D 50021561 50021570 1 16 323.968 - - 8 1 1 RBM6|CCDS2809.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBM6|CCDS2809.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 3 6 3 19 14 19 14 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760244890 3 50190440 G GCA 269 PASS SEMA3F CCDS2811.1 r.? - - Ins upstream I 50190440 50190455 2 12 262.749 - - 7 1 1 SEMA3F|CCDS2811.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SEMA3F|CCDS2811.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 2 3 2 26 11 26 11 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760244902 3 50303458 CG C 420 PASS U73166.1 ENST00000507563 r.? - - Del intronic D 50303458 50303466 1 18 377.963 - - 7 1 1 U73166.1|ENST00000507563|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 U73166.1|ENST00000507563|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 2 5 3 5 22 25 22 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760244933 3 50544073 C CT 480 PASS CACNA2D2 CCDS33763.1 r.? - - Ins upstream I 50544073 50544082 1 25 427.141 - - 8 1 1 CACNA2D2|CCDS33763.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CACNA2D2|CCDS33763.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 7 9 8 9 0 0 ./. 4 4 4 5 23 23 23 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760245065 3 51029198 CA C 329 PASS DOCK3 CCDS46835.1 r.? - - Del intronic D 51029198 51029208 1 15 323.968 - - 9 1 1 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 2 5 2 34 8 34 8 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760245274 3 51828518 CT C 360 PASS - - - - - Del - D 51828518 51828528 1 15 320.958 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 4 3 5 19 14 19 14 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760245392 3 52367783 G GT 389 PASS DNAH1 CCDS46842.1 r.? - - Ins intronic I 52367783 52367793 1 14 372.544 - - 9 1 1 DNAH1|CCDS46842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAH1|CCDS46842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 6 1 6 3 32 32 32 32 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760245416 3 52510314 CAT C 300 PASS NISCH CCDS33767.1 r.? - - Del intronic D 52510314 52510318 2 12 269.973 - - 1 1 1 NISCH|CCDS33767.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NISCH|CCDS33767.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 3 3 23 25 23 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760245420 3 52581925 TAA T 420 PASS PBRM1 CCDS2859.1 r.4964_4965delUU c.? p.? Del 3'UTR variant D 52581925 52581930 2 8 377.963 - - 4 1 1 PBRM1|CCDS2859.1|r.4964_4965delUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PBRM1|CCDS2859.1|r.4964_4965delUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 9 10 9 0 0 ./. 7 0 9 0 21 2 21 2 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760245423 3 52597339 AG A 300 PASS PBRM1 CCDS2859.1 r.3952delC c.3949delC p.L1317fs*35 Del frameshift D 52597339 52597346 1 6 269.973 - - 6 1 1 PBRM1|CCDS2859.1|r.3952delC|c.3949delC|p.L1317fs*35|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PBRM1|CCDS2859.1|r.3952delC|c.3949delC|p.L1317fs*35|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 6 7 6 7 0 0 ./. 5 0 6 0 18 3 18 3 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760245817 3 53954106 AT A 300 PASS - - - - - Del - D 53954106 53954116 1 12 266.963 - - 9 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 2 3 2 5 21 17 21 17 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760245934 3 54404784 GT G 420 PASS CACNA2D3 ENST00000474759 r.? - - Del intronic D 54404784 54404794 1 20 377.963 - - 9 1 1 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 3 6 4 30 14 30 14 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760246045 3 54781170 AT A 360 PASS CACNA2D3 ENST00000474759 r.? - - Del intronic D 54781170 54781177 1 16 323.968 - - 6 1 1 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 3 3 3 19 19 19 19 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760246111 3 55049228 A AT 300 PASS CACNA2D3 ENST00000474759 r.? - - Ins intronic I 55049228 55049237 1 6 266.963 - - 8 1 1 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 0 5 0 6 3 24 3 24 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760246215 3 55413427 T TA 360 PASS - - - - - Ins - I 55413427 55413436 1 16 317.947 - - 8 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 3 3 5 4 24 18 24 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760246561 3 56699198 GA G 480 PASS C3orf63 CCDS46853.1 r.? - - Del intronic D 56699198 56699208 1 24 431.957 - - 9 1 1 C3orf63|CCDS46853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C3orf63|CCDS46853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 5 3 6 4 28 17 28 17 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760247351 3 58931184 TA T 360 PASS C3orf67 CCDS33776.1 r.? - - Del intronic D 58931184 58931193 1 16 323.968 - - 8 1 1 C3orf67|CCDS33776.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C3orf67|CCDS33776.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 3 4 3 23 13 23 13 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760247409 3 59270454 TA T 660 PASS - - - - - Del - D 59270454 59270461 1 40 593.339 - - 6 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 7 4 8 6 22 29 22 29 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760247481 3 59626697 GT G 480 PASS - - - - - Del - D 59626697 59626706 1 21 431.957 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 6 2 8 23 26 23 26 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760247501 3 59687453 TA T 420 PASS - - - - - Del - D 59687453 59687456 1 20 366.523 - - 2 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 3 4 4 22 23 22 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760247601 3 60037561 GA G 420 PASS FHIT CCDS2894.1 r.? - - Del intronic D 60037561 60037569 1 18 377.963 - - 7 1 1 FHIT|CCDS2894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FHIT|CCDS2894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 2 6 3 22 17 22 17 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760247960 3 61151504 GA G 360 PASS FHIT CCDS2894.1 r.? - - Del intronic D 61151504 61151514 1 15 323.968 - - 9 1 1 FHIT|CCDS2894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FHIT|CCDS2894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 2 4 4 24 31 24 31 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760248063 3 61523364 AG A 540 PASS - - - - - Del - D 61523364 61523372 1 28 485.952 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 3 8 5 25 21 25 21 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760248227 3 61984730 CT C 300 PASS PTPRG CCDS2895.1 r.? - - Del intronic D 61984730 61984740 1 12 269.973 - - 9 1 1 PTPRG|CCDS2895.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRG|CCDS2895.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 2 7 16 21 16 21 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760248460 3 62870121 CA C 300 PASS - - - - - Del - D 62870121 62870129 1 10 269.973 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 1 5 2 18 17 18 17 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760248624 3 63425879 GA G 480 PASS SYNPR CCDS46859.1 r.? - - Del intronic D 63425879 63425884 1 21 431.355 - - 4 1 1 SYNPR|CCDS46859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYNPR|CCDS46859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 2 7 4 18 27 18 27 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760248685 3 63817032 AG A 300 PASS THOC7 CCDS2900.1 r.? - - Del downstream D 63817032 63817039 1 12 269.973 - - 6 1 1 THOC7|CCDS2900.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C3orf49|ENST00000295896|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 2 3 2 28 19 28 19 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760248723 3 63983382 AT A 420 PASS ATXN7 CCDS46861.1 r.? - - Del intronic D 63983382 63983391 1 18 377.963 - - 8 1 1 ATXN7|CCDS46861.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATXN7|CCDS46861.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 2 7 2 25 27 25 27 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760248804 3 64445819 C CA 389 PASS - - - - - Ins - I 64445819 64445826 1 20 373.748 - - 6 1 - - - ./. 0 0 0 0 10 21 10 21 0 0 ./. 4 3 7 4 21 20 21 20 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760248998 3 65138014 CA C 360 PASS - - - - - Del - D 65138014 65138022 1 12 323.968 - - 7 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 1 5 1 5 13 22 13 22 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760249035 3 65288989 AT A 360 PASS - - - - - Del - D 65288989 65288996 1 15 323.968 - - 6 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 2 5 4 16 23 16 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760249162 3 65715971 TA T 420 PASS MAGI1 CCDS33781.1 r.? - - Del intronic D 65715971 65715981 1 20 377.963 - - 9 1 1 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 3 5 5 22 24 22 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760249365 3 66349624 CT C 360 PASS SLC25A26 ENST00000354883 r.? - - Del intronic D 66349624 66349634 1 7 323.366 - - 9 1 1 SLC25A26|ENST00000354883|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC25A26|ENST00000354883|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 0 6 1 8 12 26 12 26 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760249447 3 66723367 GA G 300 PASS - - - - - Del - D 66723367 66723377 1 12 269.973 - - 9 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 2 4 3 23 3 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760249459 3 66756541 CA C 269 PASS - - - - - Del - D 66756541 66756551 1 10 268.769 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 4 3 6 24 23 24 23 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760249472 3 66808728 TA T 540 PASS - - - - - Del - D 66808728 66808737 1 28 485.952 - - 8 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 6 3 6 5 32 27 32 27 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760249716 3 67663814 AT A 300 PASS SUCLG2 CCDS43104.1 r.? - - Del intronic D 67663814 67663823 1 10 269.973 - - 8 1 1 SUCLG2|CCDS43104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUCLG2|CCDS43104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 1 6 1 16 7 16 7 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760249800 3 67993105 A AT 420 PASS - - - - - Ins - I 67993105 67993115 1 18 371.942 - - 9 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 5 2 7 3 22 20 22 20 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760249838 3 68175475 G GA 720 PASS FAM19A1 ENST00000478136 r.? - - Ins intronic I 68175475 68175478 1 48 640.711 - - 2 1 1 FAM19A1|ENST00000478136|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM19A1|ENST00000478136|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 7 5 10 6 32 25 33 25 10 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760250230 3 69534132 GC G 360 PASS FRMD4B ENST00000459638 r.? - - Del intronic D 69534132 69534140 1 15 321.56 - - 7 1 1 FRMD4B|ENST00000459638|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FRMD4B|ENST00000459638|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 2 4 2 5 27 15 27 15 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760250323 3 70055365 AAT A 420 PASS - - - - - Del - D 70055365 70055370 2 18 376.758 - - 2 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 2 5 2 6 16 16 16 16 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760250480 3 70824658 T TCA 420 PASS - - - - - Ins - I 70824658 70824673 2 14 369.534 - - 7 1 1 - - ./. 0 0 0 0 21 16 21 17 0 0 ./. 1 6 1 7 10 25 10 25 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760250631 3 71375223 GA G 360 PASS FOXP1 CCDS2914.1 r.? - - Del intronic D 71375223 71375233 1 16 323.968 - - 9 1 1 FOXP1|CCDS2914.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FOXP1|CCDS2914.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 3 3 3 7 28 24 28 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760250667 3 71450497 AAG A 360 PASS FOXP1 CCDS2914.1 r.? - - Del intronic D 71450497 71450512 2 16 323.968 - - 7 1 1 FOXP1|CCDS2914.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FOXP1|CCDS2914.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 8 4 8 0 0 ./. 3 3 3 3 25 17 25 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760250772 3 71804824 TG T 300 PASS GPR27 CCDS2915.1 r.1625delG c.? p.? Del 3'UTR variant D 71804824 71804831 1 12 268.769 - - 6 1 1 GPR27|CCDS2915.1|r.1625delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 GPR27|CCDS2915.1|r.1625delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 2 3 3 25 22 25 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760250777 3 71812476 TA T 300 PASS - - - - - Del - D 71812476 71812484 1 12 269.973 - - 7 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 2 3 4 3 14 9 14 9 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760250819 3 71954170 ATCT A 329 PASS - - - - - Del - D 71954170 71954180 3 12 322.764 - - 3 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 1 5 1 6 17 31 17 31 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760250947 3 72342458 CA C 329 PASS - - - - - Del - D 72342458 72342465 1 12 322.162 - - 6 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 1 7 1 25 6 25 6 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760251032 3 72605368 AT A 389 PASS - - - - - Del - D 72605368 72605378 1 18 370.738 - - 9 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 2 5 3 7 24 20 24 20 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760251070 3 72733227 CT C 300 PASS AC103560.1 ENST00000509224 r.? - - Del intronic D 72733227 72733237 1 10 269.973 - - 9 1 1 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 1 4 2 4 13 21 13 21 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760251598 3 74514756 C CA 300 PASS CNTN3 CCDS33790.1 r.? - - Ins intronic I 74514756 74514764 1 10 266.963 - - 7 1 1 CNTN3|CCDS33790.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTN3|CCDS33790.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 4 5 4 34 25 34 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760251653 3 74735017 AT A 600 PASS - - - - - Del - D 74735017 74735025 1 32 539.345 - - 7 1 1 - - ./. 0 0 0 0 21 11 21 11 0 0 ./. 7 3 9 4 27 20 27 20 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760251737 3 75063029 T TA 300 PASS - - - - - Ins - I 75063029 75063036 1 10 266.963 - - 6 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 1 4 2 5 28 22 28 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760251819 3 75400555 AC A 360 PASS - - - - - Del - D 75400555 75400563 1 16 323.968 - - 7 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 3 3 4 4 24 14 24 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760252880 3 76200035 CA C 300 PASS ROBO2 ENST00000487694 r.? - - Del intronic D 76200035 76200042 1 12 269.973 - - 6 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 2 4 2 20 21 20 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760252968 3 76660498 AT A 360 PASS ROBO2 ENST00000487694 r.? - - Del intronic D 76660498 76660507 1 12 323.968 - - 8 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 9 23 9 0 0 ./. 1 5 1 5 17 30 17 30 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760253367 3 78338250 GT G 300 PASS - - - - - Del - D 78338250 78338257 1 10 269.973 - - 6 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 1 6 1 28 13 28 13 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760253549 3 79053350 AT A 360 PASS ROBO1 CCDS46872.1 r.? - - Del intronic D 79053350 79053360 1 12 322.764 - - 9 1 1 ROBO1|CCDS46872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROBO1|CCDS46872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 1 5 2 6 22 23 22 23 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760254275 3 82480519 CAA C 540 PASS - - - - - Del - D 82480519 82480523 2 30 485.952 - - 3 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 5 5 5 25 22 25 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760254443 3 83320671 G GA 300 PASS - - - - - Ins - I 83320671 83320681 1 6 266.963 - - 9 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 0 5 0 20 8 20 8 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760254526 3 83727845 AT A 360 PASS - - - - - Del - D 83727845 83727852 1 15 323.968 - - 6 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 2 4 2 23 6 23 6 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760254616 3 84126339 TG T 360 PASS - - - - - Del - D 84126339 84126348 1 12 323.968 - - 8 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 5 1 7 1 23 16 23 16 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760254638 3 84233605 CA C 420 PASS - - - - - Del - D 84233605 84233614 1 18 377.963 - - 8 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 2 6 2 14 8 14 8 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760254663 3 84336997 GA G 300 PASS - - - - - Del - D 84336997 84337007 1 6 269.973 - - 9 1 1 - - ./. 0 0 0 0 17 6 17 6 0 0 ./. 0 5 0 6 1 15 1 15 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760254763 3 84679285 CT C 300 PASS - - - - - Del - D 84679285 84679293 1 12 269.973 - - 7 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 2 3 2 3 25 18 25 18 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760254835 3 85017304 CT C 300 PASS CADM2 ENST00000383699 r.? - - Del intronic D 85017304 85017312 1 12 269.973 - - 7 1 1 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 3 2 4 20 14 20 14 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760254860 3 85127689 C CA 480 PASS CADM2 ENST00000383699 r.? - - Ins intronic I 85127689 85127695 1 25 427.141 - - 5 1 1 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 4 7 4 34 13 35 13 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760255522 3 88221143 GA G 540 PASS - - - - - Del - D 88221143 88221149 1 30 485.952 - - 5 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 4 5 5 22 26 22 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760255648 3 88591617 T TTG 360 PASS - - - - - Ins - I 88591617 88591633 2 16 304.1 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 3 3 5 15 27 15 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760255760 3 88987443 G GA 300 PASS - - - - - Ins - I 88987443 88987453 1 12 266.963 - - 9 1 1 - - ./. 0 0 0 0 18 20 19 20 0 0 ./. 3 2 3 2 15 15 15 15 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760255858 3 89370312 CT C 780 PASS EPHA3 CCDS2922.1 r.? - - Del intronic D 89370312 89370321 1 56 701.931 - - 8 1 1 EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 7 6 8 8 33 28 33 28 8 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760255860 3 89423491 AAGTC A 327 PASS EPHA3 CCDS2922.1 r.? - - Del intronic D 89423491 89423499 4 14 377.963 - - 1 1 1 EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 6 1 7 2 23 8 23 8 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760255983 3 90118280 G GAC 540 PASS - - - - - Ins - I 90118280 90118300 2 28 475.115 - - 9 1 - - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 6 3 7 5 21 23 21 23 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760255988 3 90132923 CT C 360 PASS - - - - - Del - D 90132923 90132930 1 16 323.968 - - 6 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 4 5 19 17 19 17 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760256120 3 93907467 G GT 300 PASS - - - - - Ins - I 93907467 93907477 1 10 266.963 - - 9 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 4 1 5 2 21 11 21 11 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760256163 3 94060929 TA T 567 PASS - - - - - Del - D 94060929 94060937 1 42 593.941 - - 7 1 1 - - ./. 0 0 0 0 9 3 9 3 0 0 ./. 5 6 5 6 12 25 12 25 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760256186 3 94122303 AT A 360 PASS - - - - - Del - D 94122303 94122310 1 12 323.968 - - 6 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 1 7 3 36 24 36 24 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760256214 3 94212322 AT A 540 PASS - - - - - Del - D 94212322 94212331 1 28 485.952 - - 8 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 6 3 6 3 26 17 26 17 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760256506 3 95208254 GA G 300 PASS - - - - - Del - D 95208254 95208262 1 12 269.973 - - 7 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 2 3 18 16 18 16 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760256547 3 95478043 T TG 300 PASS - - - - - Ins - I 95478043 95478052 1 10 265.759 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 1 5 1 26 31 26 31 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760256596 3 95888695 GT G 300 PASS - - - - - Del - D 95888695 95888703 1 12 269.371 - - 7 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 2 3 4 4 22 29 22 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760256836 3 96821634 CT C 300 PASS EPHA6 CCDS46876.1 r.? - - Del intronic D 96821634 96821644 1 6 268.167 - - 9 1 1 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 0 5 0 20 17 20 17 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760256908 3 97226971 A AT 300 PASS EPHA6 CCDS46876.1 r.? - - Ins intronic I 97226971 97226981 1 10 266.963 - - 9 1 1 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 22 14 22 0 0 ./. 4 1 6 1 25 13 26 14 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760256966 3 97605050 GT G 360 PASS CRYBG3 CCDS43113.1 r.? - - Del intronic D 97605050 97605058 1 12 323.968 - - 7 1 1 CRYBG3|CCDS43113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRYBG3|CCDS43113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 5 3 5 13 24 13 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760257138 3 98309002 GT G 300 PASS CPOX CCDS2932.1 r.? - - Del intronic D 98309002 98309010 1 10 269.973 - - 7 1 - CPOX|CCDS2932.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPOX|CCDS2932.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 1 8 3 30 19 30 19 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760257150 3 98403037 CA C 420 PASS - - - - - Del - D 98403037 98403047 1 20 377.963 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 4 3 4 20 17 20 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760257213 3 98629745 G GA 300 PASS - - - - - Ins - I 98629745 98629753 1 12 266.963 - - 7 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 2 3 2 4 27 32 27 32 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760257458 3 99908162 CT C 300 PASS TMEM30C ENST00000476804 r.? - - Del intronic D 99908162 99908172 1 12 268.769 - - 9 1 1 TMEM30C|ENST00000476804|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM30C|ENST00000476804|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 2 6 2 23 28 23 28 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760257487 3 99976543 TA T 480 PASS TBC1D23 CCDS2936.1 r.? - - Del upstream D 99976543 99976552 1 21 431.957 - - 8 1 1 TBC1D23|CCDS2936.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TBC1D23|CCDS2936.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 6 11 6 11 0 0 ./. 6 2 8 2 25 17 25 17 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760257531 3 100108882 TA T 360 PASS TOMM70A CCDS33807.1 r.? - - Del intronic D 100108882 100108892 1 16 323.968 - - 9 1 1 TOMM70A|CCDS33807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TOMM70A|CCDS33807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 3 4 5 19 17 19 17 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760257593 3 100346822 C CT 300 PASS GPR128 CCDS2938.1 r.? - - Ins intronic I 100346822 100346829 1 10 266.963 - - 6 1 1 GPR128|CCDS2938.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPR128|CCDS2938.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 4 1 4 22 24 22 24 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760257621 3 100455401 CT C 420 PASS TFG CCDS2939.1 r.? - - Del intronic D 100455401 100455410 1 20 377.963 - - 8 1 1 TFG|CCDS2939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TFG|CCDS2939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 4 5 5 20 19 20 19 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760258811 3 104924175 C CT 300 PASS - - - - - Ins - I 104924175 104924185 1 12 259.738 - - 9 1 1 - - ./. 0 0 0 0 23 7 23 7 0 0 ./. 3 2 4 3 22 20 22 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760259097 3 105883800 CA C 300 PASS - - - - - Del - D 105883800 105883808 1 12 268.769 - - 7 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 3 3 3 19 22 19 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760259394 3 106903066 CT C 360 PASS - - - - - Del - D 106903066 106903076 1 12 323.968 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 1 5 1 19 14 19 14 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760259756 3 108436812 A AT 480 PASS - - - - - Ins - I 108436812 108436822 1 24 427.141 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 3 5 5 30 22 31 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760259808 3 108595207 AG A 300 PASS - - - - - Del - D 108595207 108595213 1 12 269.973 - - 5 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 6 2 29 26 29 26 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760259870 3 108819640 CT C 360 PASS MORC1 CCDS2955.1 r.? - - Del intronic D 108819640 108819650 1 7 323.968 - - 9 1 1 MORC1|CCDS2955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MORC1|CCDS2955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 0 6 1 7 16 21 16 21 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760259929 3 108975279 CA C 360 PASS - - - - - Del - D 108975279 108975288 1 12 323.968 - - 8 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 1 5 2 15 24 15 24 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760260066 3 109532712 GT G 360 PASS - - - - - Del - D 109532712 109532722 1 7 322.764 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 0 6 2 6 18 32 18 32 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760260241 3 110118286 A AT 360 PASS - - - - - Ins - I 110118286 110118294 1 12 320.356 - - 7 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 1 5 1 7 2 25 2 26 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760260424 3 110719782 CA C 517 PASS - - - - - Del - D 110719782 110719791 1 28 485.952 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 6 7 6 22 30 22 30 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760260461 3 110938350 AT A 300 PASS PVRL3 ENST00000485506 r.? - - Del intronic D 110938350 110938357 1 12 269.973 - - 6 1 1 PVRL3|ENST00000485506|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PVRL3|ENST00000485506|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 2 3 2 3 14 10 14 10 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760260464 3 110946604 C CA 360 PASS PVRL3 ENST00000485506 r.? - - Ins intronic I 110946604 110946613 1 15 320.356 - - 8 1 1 PVRL3|ENST00000485506|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PVRL3|ENST00000485506|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 12 21 13 0 0 ./. 2 4 3 6 24 23 24 23 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760260499 3 111077184 T TA 480 PASS - - - - - Ins - I 111077184 111077190 1 24 427.141 - - 5 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 5 4 7 23 14 23 14 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760260726 3 111953988 CT C 332 PASS SLC9A10 CCDS33817.1 r.? - - Del intronic D 111953988 111953993 1 30 485.952 - - 4 1 1 SLC9A10|CCDS33817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC9A10|CCDS33817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 5 5 5 14 28 14 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760260742 3 111989662 CA C 660 PASS SLC9A10 CCDS33817.1 r.? - - Del intronic D 111989662 111989672 1 40 593.941 - - 9 1 1 SLC9A10|CCDS33817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC9A10|CCDS33817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 7 4 7 4 21 22 21 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760260759 3 112022329 GT G 480 PASS - - - - - Del - D 112022329 112022334 1 24 431.957 - - 4 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 5 3 7 4 32 27 32 27 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760260845 3 112264993 C CA 300 PASS ATG3 CCDS2966.1 r.? - - Ins intronic I 112264993 112265001 1 12 265.759 - - 7 1 1 ATG3|CCDS2966.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATG3|CCDS2966.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 21 11 22 0 0 ./. 2 3 3 4 15 18 16 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760261131 3 113484773 CA C 300 PASS ATP6V1A CCDS2976.1 r.? - - Del intronic D 113484773 113484783 1 12 263.351 - - 9 1 1 ATP6V1A|CCDS2976.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ATP6V1A|CCDS2976.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 9 12 0 0 ./. 3 2 4 4 30 22 34 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760261290 3 113978713 CT C 300 PASS - - - - - Del - D 113978713 113978722 1 6 269.973 - - 8 1 1 - - ./. 0 0 0 0 16 1 16 1 0 0 ./. 5 0 6 0 18 0 18 0 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760261414 3 114558917 TA T 360 PASS ZBTB20 CCDS2981.1 r.? - - Del intronic D 114558917 114558927 1 16 323.968 - - 9 1 1 ZBTB20|CCDS2981.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZBTB20|CCDS2981.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 3 4 4 20 16 20 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760261473 3 114995539 TA T 480 PASS - - - - - Del - D 114995539 114995548 1 24 431.355 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 3 7 4 16 15 16 15 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760261511 3 115224561 GC G 600 PASS - - - - - Del - D 115224561 115224568 1 35 538.14 - - 6 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 4 6 4 6 20 24 20 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760261915 3 116792043 AT A 360 PASS LSAMP ENST00000474851 r.? - - Del intronic D 116792043 116792051 1 15 323.366 - - 7 1 1 LSAMP|ENST00000474851|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LSAMP|ENST00000474851|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 4 3 5 31 23 31 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760262032 3 117166367 GA G 360 PASS - - - - - Del - D 117166367 117166376 1 16 323.968 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 3 7 16 20 16 20 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760262104 3 117549436 GA G 360 PASS - - - - - Del - D 117549436 117549445 1 16 323.366 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 3 5 4 21 14 21 14 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760262110 3 117585610 TTC T 300 PASS - - - - - Del - D 117585610 117585619 2 10 269.973 - - 4 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 1 4 1 4 13 13 13 13 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760262276 3 118261497 A AAC 480 PASS - - - - - Ins - I 118261497 118261511 2 24 422.324 - - 6 1 1 - - ./. 0 0 0 0 13 14 13 15 0 0 ./. 3 5 3 6 18 26 18 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760262616 3 119665182 T TA 300 PASS GSK3B CCDS2996.1 r.? - - Ins intronic I 119665182 119665192 1 12 266.963 - - 9 1 1 GSK3B|CCDS2996.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GSK3B|CCDS2996.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 2 3 3 26 12 26 12 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760262736 3 120060876 TC T 300 PASS LRRC58 CCDS46892.1 r.? - - Del intronic D 120060876 120060883 1 12 264.555 - - 6 1 1 LRRC58|CCDS46892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRC58|CCDS46892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 10 2 10 0 0 ./. 2 3 5 6 25 31 25 31 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760262886 3 120889232 CA C 277 PASS STXBP5L CCDS43137.1 r.? - - Del intronic D 120889232 120889240 1 12 269.973 - - 7 1 1 STXBP5L|CCDS43137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STXBP5L|CCDS43137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 2 3 3 18 21 18 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760262973 3 121244740 CT C 300 PASS POLQ CCDS33833.1 r.? - - Del intronic D 121244740 121244749 1 10 269.973 - - 8 1 1 POLQ|CCDS33833.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POLQ|CCDS33833.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 1 4 2 5 18 20 18 20 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760263089 3 121628492 G GT 420 PASS SLC15A2 CCDS3007.1 r.? - - Ins intronic I 121628492 121628500 1 8 373.748 - - 7 1 - SLC15A2|CCDS3007.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC15A2|CCDS3007.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 0 7 3 9 9 27 9 28 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760263234 3 122166776 AC A 324 PASS KPNA1 CCDS3013.1 r.? - - Del intronic D 122166776 122166782 1 15 323.968 - - 5 1 1 KPNA1|CCDS3013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KPNA1|CCDS3013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 4 3 4 20 26 20 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760263368 3 122524719 GA G 480 PASS DIRC2 CCDS3018.1 r.? - - Del intronic D 122524719 122524726 1 24 430.753 - - 6 1 1 DIRC2|CCDS3018.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIRC2|CCDS3018.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 5 3 6 11 24 11 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760263508 3 123154450 CT C 300 PASS ADCY5 CCDS3022.1 r.? - - Del intronic D 123154450 123154459 1 6 269.973 - - 8 1 1 ADCY5|CCDS3022.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY5|CCDS3022.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 0 5 0 7 1 28 1 28 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760263660 3 123861600 AC A 300 PASS KALRN CCDS3027.1 r.? - - Del intronic D 123861600 123861607 1 12 269.973 - - 6 1 1 KALRN|CCDS3027.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KALRN|CCDS3027.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 4 5 27 23 27 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760264003 3 125097145 GT G 480 PASS ZNF148 CCDS3031.1 r.? - - Del upstream D 125097145 125097155 1 24 431.957 - - 9 1 1 ZNF148|CCDS3031.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZNF148|CCDS3031.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 3 8 3 25 19 25 19 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760264312 3 125972412 AT A 540 PASS - - - - - Del - D 125972412 125972418 1 28 483.544 - - 5 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 6 6 8 18 34 18 34 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760264405 3 126333768 TG T 300 PASS TXNRD3 ENST00000457556 r.? - - Del intronic D 126333768 126333775 1 12 269.973 - - 6 1 1 TXNRD3|ENST00000457556|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TXNRD3|ENST00000457556|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 3 3 3 17 6 17 6 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760264609 3 127268417 A AC 720 PASS ENSG00000230883 ENST00000455379 r.? - - Ins intronic I 127268417 127268425 1 33 640.711 - - 7 1 1 ENSG00000230883|ENST00000455379|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000230883|ENST00000455379|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 10 3 11 23 29 23 29 3 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760264714 3 127761859 A AT 360 PASS - - - - - Ins - I 127761859 127761865 1 15 320.356 - - 5 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 4 6 4 25 28 25 29 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760264861 3 128353572 AT A 660 PASS RPN1 CCDS3051.1 r.? - - Del intronic D 128353572 128353580 1 42 593.339 - - 7 1 1 RPN1|CCDS3051.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPN1|CCDS3051.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 6 5 8 5 17 24 17 24 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760264909 3 128445242 TC T 329 PASS RAB7A CCDS3052.1 r.? - - Del intronic D 128445242 128445251 1 15 319.151 - - 8 1 1 RAB7A|CCDS3052.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RAB7A|CCDS3052.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 4 4 6 19 18 19 18 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760265023 3 128747494 T TC 360 PASS CCDC48 ENST00000480450 r.? - - Ins intronic I 128747494 128747496 1 15 319.754 - - 1 1 - CCDC48|ENST00000480450|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC48|ENST00000480450|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 2 5 4 23 19 23 19 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760265194 3 129316326 G GC 360 PASS PLXND1 CCDS33854.1 r.? - - Ins intronic I 129316326 129316336 1 15 320.356 - - 9 1 1 PLXND1|CCDS33854.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLXND1|CCDS33854.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 4 2 5 4 30 24 30 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760265208 3 129406142 G GA 360 PASS TMCC1 CCDS33855.1 r.? - - Ins intronic I 129406142 129406151 1 15 320.356 - - 8 1 1 TMCC1|CCDS33855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMCC1|CCDS33855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 2 6 2 27 19 27 19 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760265482 3 130268403 GT G 360 PASS - - - - - Del - D 130268403 130268413 1 15 323.366 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 4 3 4 29 21 29 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760265492 3 130300812 CT C 569 PASS COL6A6 CCDS46911.1 r.? - - Del intronic D 130300812 130300820 1 36 539.947 - - 7 1 1 COL6A6|CCDS46911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL6A6|CCDS46911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 5 8 5 23 23 23 23 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760265705 3 131032967 GAA G 300 PASS NEK11 CCDS3069.1 r.? - - Del intronic D 131032967 131032973 2 12 269.973 - - 5 1 1 NEK11|CCDS3069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEK11|CCDS3069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 2 5 4 22 22 22 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760265707 3 131033053 GTT G 300 PASS NEK11 CCDS3069.1 r.? - - Del intronic D 131033053 131033057 2 10 269.973 - - 3 1 1 NEK11|CCDS3069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEK11|CCDS3069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 1 4 4 17 19 17 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760265761 3 131182910 TC T 300 PASS MRPL3 CCDS3071.1 r.? - - Del intronic D 131182910 131182917 1 12 269.973 - - 6 1 1 MRPL3|CCDS3071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRPL3|CCDS3071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 3 2 4 18 9 18 9 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760265954 3 131773091 TG T 397 PASS CPNE4 ENST00000512055 r.? - - Del intronic D 131773091 131773098 1 18 377.361 - - 6 1 1 CPNE4|ENST00000512055|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CPNE4|ENST00000512055|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 5 2 5 12 24 12 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760266170 3 132630903 GT G 300 PASS - - - - - Del - D 132630903 132630912 1 12 269.973 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 3 7 3 34 25 34 25 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760266429 3 133489317 CT C 360 PASS TF CCDS3080.1 r.? - - Del intronic D 133489317 133489327 1 16 321.56 - - 9 1 1 TF|CCDS3080.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TF|CCDS3080.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 3 4 4 24 19 24 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760266777 3 134880634 C CT 360 PASS EPHB1 CCDS46921.1 r.? - - Ins intronic I 134880634 134880641 1 15 319.151 - - 6 1 1 EPHB1|CCDS46921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPHB1|CCDS46921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 4 2 4 19 33 20 33 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760266895 3 135539373 C CA 360 PASS - - - - - Ins - I 135539373 135539381 1 16 320.356 - - 7 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 3 3 4 3 25 18 25 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760266918 3 135727501 AT A 420 PASS PPP2R3A CCDS3087.1 r.? - - Del intronic D 135727501 135727507 1 8 377.963 - - 5 1 1 PPP2R3A|CCDS3087.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP2R3A|CCDS3087.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 7 0 10 3 20 22 20 22 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760267245 3 136829280 TA T 300 PASS - - - - - Del - D 136829280 136829289 1 10 268.769 - - 8 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 1 4 1 6 4 17 4 17 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760267293 3 136995411 A AT 329 PASS - - - - - Ins - I 136995411 136995417 1 15 320.356 - - 5 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 2 6 4 20 24 20 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760267316 3 137090991 GGTT G 269 PASS - - - - - Del - D 137090991 137090998 3 12 266.963 - - 2 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 2 3 2 21 16 21 16 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760267635 3 138292485 GA G 480 PASS CEP70 CCDS3102.1 r.? - - Del intronic D 138292485 138292493 1 24 430.151 - - 7 1 1 CEP70|CCDS3102.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CEP70|CCDS3102.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 3 5 3 30 11 30 11 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760268038 3 139656746 AT A 389 PASS CLSTN2 CCDS3112.1 r.? - - Del intronic D 139656746 139656756 1 20 377.963 - - 9 1 1 CLSTN2|CCDS3112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLSTN2|CCDS3112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 3 7 3 24 17 24 17 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760268420 3 141539535 AG A 254 PASS GRK7 CCDS3120.1 r.? - - Del downstream D 141539535 141539544 1 15 323.968 - - 8 1 1 GRK7|CCDS3120.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 GRK7|CCDS3120.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 4 2 5 22 19 22 19 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760268481 3 141659857 CA C 780 PASS AC133435.2 ENST00000453700 r.? - - Del intronic D 141659857 141659867 1 56 701.931 - - 9 1 1 AC133435.2|ENST00000453700|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC133435.2|ENST00000453700|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 7 6 10 7 31 25 31 25 10 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760268557 3 141855077 CT C 325 PASS TFDP2 CCDS43159.1 r.? - - Del intronic D 141855077 141855083 1 20 377.963 - - 5 1 1 TFDP2|CCDS43159.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TFDP2|CCDS43159.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 3 8 5 25 31 25 31 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760268911 3 143022867 TG T 300 PASS SLC9A9 CCDS33872.1 r.? - - Del intronic D 143022867 143022873 1 12 267.565 - - 5 1 1 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 2 4 27 28 27 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760268995 3 143411001 CT C 300 PASS SLC9A9 CCDS33872.1 r.? - - Del intronic D 143411001 143411011 1 12 269.973 - - 9 1 1 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 3 3 4 12 25 12 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760269020 3 143510781 AT A 540 PASS SLC9A9 CCDS33872.1 r.? - - Del intronic D 143510781 143510789 1 30 485.952 - - 7 1 1 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 5 4 7 6 21 25 21 25 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760269064 3 143665042 GT G 360 PASS - - - - - Del - D 143665042 143665050 1 12 323.968 - - 7 1 1 - - ./. 0 0 0 0 2 15 2 15 0 0 ./. 1 5 1 6 1 24 1 24 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760269098 3 143743391 GT G 357 PASS - - - - - Del - D 143743391 143743399 1 56 701.931 - - 7 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 6 7 6 8 29 33 29 33 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760269202 3 144194755 TA T 420 PASS - - - - - Del - D 144194755 144194764 1 18 377.361 - - 8 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 5 5 5 11 19 11 19 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760269657 3 146075718 GC G 272 PASS - - - - - Del - D 146075718 146075724 1 15 323.968 - - 5 1 1 - - ./. 0 0 0 0 13 4 13 4 0 0 ./. 4 2 4 4 18 19 18 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760269658 3 146079810 TA T 250 PASS - - - - - Del - D 146079810 146079820 1 15 323.968 - - 9 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 4 5 5 19 12 19 12 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760269670 3 146180975 CT C 300 PASS PLSCR2 CCDS3134.1 r.? - - Del intronic D 146180975 146180984 1 12 269.973 - - 8 1 1 PLSCR2|CCDS3134.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLSCR2|CCDS3134.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 23 16 23 0 0 ./. 2 3 2 4 20 14 20 14 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760270046 3 148247358 C CA 300 PASS - - - - - Ins - I 148247358 148247361 1 12 266.963 - - 2 1 1 - - ./. 0 0 0 0 16 13 16 14 0 0 ./. 2 3 2 4 20 24 20 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760270107 3 148439975 GA G 480 PASS AGTR1 CCDS3137.1 r.? - - Del intronic D 148439975 148439983 1 21 431.957 - - 7 1 1 AGTR1|CCDS3137.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 AGTR1|CCDS3137.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 6 2 6 3 22 21 22 21 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760271308 3 152836594 GT G 300 PASS - - - - - Del - D 152836594 152836600 1 12 269.973 - - 5 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 2 3 2 16 9 16 9 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760271332 3 152964584 TA T 300 PASS - - - - - Del - D 152964584 152964594 1 10 269.973 - - 9 1 1 - - ./. 0 0 0 0 15 2 15 2 0 0 ./. 4 1 4 1 23 17 23 17 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760271388 3 153182620 CT C 480 PASS - - - - - Del - D 153182620 153182629 1 25 430.151 - - 8 1 1 - - ./. 0 0 0 0 4 12 4 12 0 0 ./. 4 4 4 6 25 23 25 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760271417 3 153337575 GT G 360 PASS - - - - - Del - D 153337575 153337581 1 12 323.968 - - 5 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 1 6 1 21 9 21 9 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760271469 3 153598750 TC T 300 PASS - - - - - Del - D 153598750 153598757 1 12 268.769 - - 6 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 5 3 28 23 28 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760271538 3 153921693 A AT 360 PASS ENSG00000114790 CCDS46938.1 r.? - - Ins intronic I 153921693 153921701 1 12 320.356 - - 7 1 1 ENSG00000114790|CCDS46938.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000114790|CCDS46938.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 1 5 1 6 23 21 23 21 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760271563 3 153977296 GA G 600 PASS ENSG00000114790 CCDS46938.1 r.? - - Del downstream D 153977296 153977304 1 36 539.947 - - 7 1 1 ENSG00000114790|CCDS46938.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000114790|CCDS46938.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 5 6 6 29 23 29 23 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760271681 3 154478490 C CA 480 PASS - - - - - Ins - I 154478490 154478498 1 24 427.141 - - 7 1 1 - - ./. 0 0 0 0 12 12 12 13 0 0 ./. 5 3 5 4 22 23 22 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760271729 3 154722262 GA G 300 PASS - - - - - Del - D 154722262 154722272 1 6 269.973 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 0 7 1 18 12 18 12 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760271835 3 155236523 CA C 300 PASS PLCH1 CCDS33881.1 r.? - - Del intronic D 155236523 155236533 1 12 269.973 - - 9 1 1 PLCH1|CCDS33881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCH1|CCDS33881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 2 3 2 14 18 14 18 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760271890 3 155471952 CA C 360 PASS - - - - - Del - D 155471952 155471962 1 15 323.968 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 2 5 2 26 6 26 6 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760272752 3 158915697 CA C 300 PASS IQCJ CCDS46947.1 r.? - - Del intronic D 158915697 158915703 1 12 269.973 - - 5 1 1 IQCJ|CCDS46947.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IQCJ|CCDS46947.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 8 19 8 0 0 ./. 2 3 2 3 10 16 10 16 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760272805 3 159155164 AT A 269 PASS SCHIP1 CCDS3186.1 r.? - - Del intronic D 159155164 159155172 1 10 266.361 - - 7 1 1 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 1 4 2 5 19 25 19 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760272811 3 159260796 T TA 300 PASS SCHIP1 CCDS3186.1 r.? - - Ins intronic I 159260796 159260803 1 6 266.963 - - 6 1 1 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 0 5 0 6 0 27 0 28 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760272818 3 159334054 AT A 337 PASS SCHIP1 CCDS3186.1 r.? - - Del intronic D 159334054 159334063 1 15 323.968 - - 8 1 1 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 2 4 3 7 23 24 23 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760272821 3 159357794 CT C 360 PASS SCHIP1 CCDS3186.1 r.? - - Del intronic D 159357794 159357802 1 15 323.968 - - 7 1 1 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 4 4 6 17 18 17 18 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760272936 3 159836872 CA C 360 PASS - - - - - Del - D 159836872 159836881 1 15 323.366 - - 8 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 4 2 4 2 21 21 21 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760273031 3 160302549 CA C 300 PASS - - - - - Del - D 160302549 160302559 1 6 268.167 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 0 5 2 5 15 19 15 19 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760273213 3 161115909 CA C 300 PASS - - - - - Del - D 161115909 161115917 1 10 269.973 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 4 2 4 15 16 15 16 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760273228 3 161240769 GA G 480 PASS - - - - - Del - D 161240769 161240776 1 24 431.957 - - 6 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 5 3 6 3 27 16 27 16 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760273251 3 161366662 CT C 360 PASS - - - - - Del - D 161366662 161366671 1 12 323.968 - - 8 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 1 7 4 24 20 24 20 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760273311 3 161632966 AT A 449 PASS - - - - - Del - D 161632966 161632975 1 24 425.335 - - 8 1 1 - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 3 5 3 5 16 21 16 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760273446 3 162221527 AT A 360 PASS - - - - - Del - D 162221527 162221534 1 12 323.968 - - 6 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 1 5 1 6 12 19 12 19 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760273535 3 162891556 CT C 420 PASS - - - - - Del - D 162891556 162891564 1 20 377.963 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 4 4 21 23 21 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760273556 3 163111124 TA T 269 PASS - - - - - Del - D 163111124 163111131 1 12 269.973 - - 6 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 3 3 9 19 9 19 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760273842 3 164258708 CA C 360 PASS - - - - - Del - D 164258708 164258714 1 16 323.968 - - 5 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 3 5 4 20 24 20 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760274492 3 167100523 TA T 329 PASS ZBBX CCDS3199.2 r.? - - Del upstream D 167100523 167100532 1 15 323.968 - - 8 1 1 ZBBX|CCDS3199.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZBBX|CCDS3199.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 25 12 25 0 0 ./. 2 4 2 6 9 20 9 20 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760274525 3 167352469 TA T 420 PASS WDR49 CCDS3201.1 r.? - - Del intronic D 167352469 167352479 1 14 374.952 - - 9 1 1 WDR49|CCDS3201.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 WDR49|CCDS3201.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 6 1 8 8 25 8 25 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760274624 3 167874715 TG T 420 PASS - - - - - Del - D 167874715 167874722 1 20 377.963 - - 6 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 4 4 6 20 28 20 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760274627 3 167912171 C CT 540 PASS - - - - - Ins - I 167912171 167912180 1 10 480.533 - - 8 1 1 - - ./. 0 0 0 0 13 7 14 8 0 0 ./. 9 0 11 2 34 19 34 19 11 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760274632 3 167953976 GT G 420 PASS - - - - - Del - D 167953976 167953986 1 18 377.963 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 5 3 7 16 24 16 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760274672 3 168286409 A AT 300 PASS - - - - - Ins - I 168286409 168286416 1 12 266.963 - - 6 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 2 3 3 19 15 19 15 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760274860 3 169035115 GT G 600 PASS MECOM ENST00000494292 r.? - - Del intronic D 169035115 169035123 1 32 539.345 - - 7 1 1 MECOM|ENST00000494292|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MECOM|ENST00000494292|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 7 4 8 25 35 25 35 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760274991 3 169697768 GA G 360 PASS SEC62 CCDS3210.1 r.? - - Del intronic D 169697768 169697778 1 15 323.968 - - 9 1 1 SEC62|CCDS3210.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEC62|CCDS3210.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 4 4 5 21 22 21 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760274998 3 169727922 CA C 420 PASS - - - - - Del - D 169727922 169727930 1 20 375.554 - - 7 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 4 7 6 24 27 24 27 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760275023 3 169807788 CT C 480 PASS PHC3 CCDS46952.1 r.10251delA c.? p.? Del 3'UTR variant D 169807788 169807798 1 24 430.753 - - 9 1 1 PHC3|CCDS46952.1|r.10251delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PHC3|CCDS46952.1|r.10251delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 16 17 16 0 0 ./. 5 3 6 3 16 14 16 14 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760275280 3 170625015 TA T 300 PASS EIF5A2 CCDS3214.1 r.? - - Del intronic D 170625015 170625025 1 12 269.973 - - 9 1 1 EIF5A2|CCDS3214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF5A2|CCDS3214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 2 3 2 21 14 21 14 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760275335 3 170928493 AT A 360 PASS TNIK CCDS46956.1 r.? - - Del intronic D 170928493 170928500 1 12 323.968 - - 6 1 1 TNIK|CCDS46956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNIK|CCDS46956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 1 6 2 20 24 20 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760275533 3 171723132 C CA 689 PASS - - - - - Ins - I 171723132 171723138 1 45 640.711 - - 5 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 8 4 9 6 19 24 21 25 9 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760275584 3 171847300 CCTT C 449 PASS FNDC3B CCDS3217.1 r.? - - Del intronic D 171847300 171847307 3 25 431.957 - - 2 1 1 FNDC3B|CCDS3217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FNDC3B|CCDS3217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 4 6 6 19 26 19 26 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760275804 3 172485231 CA C 300 PASS ECT2 CCDS3220.1 r.? - - Del intronic D 172485231 172485240 1 6 269.371 - - 8 1 1 ECT2|CCDS3220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ECT2|CCDS3220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 0 5 0 5 2 21 2 21 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276192 3 174340832 CA C 480 PASS NAALADL2 ENST00000434257 r.? - - Del intronic D 174340832 174340842 1 25 430.753 - - 9 1 1 NAALADL2|ENST00000434257|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NAALADL2|ENST00000434257|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 4 4 4 6 26 24 26 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276413 3 175088288 TG T 300 PASS NAALADL2 CCDS46960.1 r.? - - Del intronic D 175088288 175088298 1 10 269.973 - - 9 1 1 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 7 1 27 1 27 1 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276435 3 175166876 T TA 300 PASS NAALADL2 CCDS46960.1 r.? - - Ins intronic I 175166876 175166884 1 12 266.963 - - 7 1 1 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 2 3 2 18 18 18 19 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276455 3 175203980 AT A 540 PASS NAALADL2 CCDS46960.1 r.? - - Del intronic D 175203980 175203986 1 28 485.952 - - 5 1 1 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 3 6 3 22 26 22 26 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276514 3 175372474 CT C 277 PASS NAALADL2 CCDS46960.1 r.? - - Del intronic D 175372474 175372483 1 6 269.973 - - 8 1 1 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 0 5 2 6 22 27 22 27 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276589 3 175640414 CA C 300 PASS - - - - - Del - D 175640414 175640422 1 12 269.973 - - 7 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 2 4 2 19 2 19 2 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276617 3 175814362 CT C 269 PASS - - - - - Del - D 175814362 175814372 1 10 269.973 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 1 4 1 12 2 12 2 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276648 3 175952935 GA G 300 PASS - - - - - Del - D 175952935 175952945 1 10 269.973 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 1 4 1 16 16 16 16 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276740 3 176315714 AT A 480 PASS - - - - - Del - D 176315714 176315724 1 21 430.151 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 6 4 8 21 28 21 28 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276751 3 176382010 T TA 300 PASS - - - - - Ins - I 176382010 176382019 1 12 266.963 - - 8 1 1 - - ./. 0 0 0 0 11 12 13 12 0 0 ./. 3 2 3 3 28 25 28 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276821 3 176626190 TA T 300 PASS - - - - - Del - D 176626190 176626198 1 10 269.973 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 1 6 1 15 18 15 18 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760276846 3 176699954 T TA 420 PASS - - - - - Ins - I 176699954 176699963 1 20 373.748 - - 8 1 1 - - ./. 0 0 0 0 14 12 15 12 0 0 ./. 4 3 6 4 34 14 34 14 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760277254 3 177823876 CA C 360 PASS - - - - - Del - D 177823876 177823884 1 15 323.968 - - 7 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 2 5 2 19 22 19 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760277335 3 178178975 G GA 300 PASS KCNMB2 ENST00000437510 r.? - - Ins intronic I 178178975 178178982 1 12 266.361 - - 6 1 1 KCNMB2|ENST00000437510|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KCNMB2|ENST00000437510|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 12 0 0 ./. 2 3 3 5 25 25 25 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760277520 3 178900458 CA C 360 PASS PIK3CA CCDS43171.1 r.? - - Del intronic D 178900458 178900468 1 12 319.151 - - 9 1 1 PIK3CA|CCDS43171.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PIK3CA|CCDS43171.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 1 5 1 7 22 24 22 24 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760277590 3 179088994 TA T 420 PASS MFN1 CCDS3228.1 r.? - - Del intronic D 179088994 179089003 1 20 377.963 - - 8 1 1 MFN1|CCDS3228.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MFN1|CCDS3228.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 4 3 4 5 28 34 28 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760277692 3 179304888 C CA 300 PASS ACTL6A CCDS3231.1 r.? - - Ins intronic I 179304888 179304894 1 6 266.963 - - 5 1 1 ACTL6A|CCDS3231.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACTL6A|CCDS3231.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 0 5 0 5 2 24 2 24 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760277788 3 179524802 G GA 300 PASS PEX5L CCDS3236.1 r.? - - Ins intronic I 179524802 179524809 1 10 266.963 - - 6 1 1 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 1 7 1 28 18 28 19 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760277870 3 179845039 CT C 300 PASS - - - - - Del - D 179845039 179845047 1 10 269.973 - - 7 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 4 2 5 30 33 30 33 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760277876 3 179863063 CA C 540 PASS - - - - - Del - D 179863063 179863073 1 30 485.35 - - 9 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 5 4 6 6 18 11 18 11 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760277946 3 180305395 GA G 360 PASS - - - - - Del - D 180305395 180305405 1 15 323.968 - - 9 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 2 6 3 20 21 20 21 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278087 3 180790101 AT A 660 PASS - - - - - Del - D 180790101 180790110 1 36 593.941 - - 8 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 8 5 8 28 23 28 23 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278145 3 181065504 GA G 389 PASS - - - - - Del - D 181065504 181065512 1 20 377.963 - - 7 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 3 5 5 32 31 32 31 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278195 3 181279183 CTT C 360 PASS - - - - - Del - D 181279183 181279193 2 15 318.549 - - 9 1 1 - - ./. 0 0 0 0 22 11 22 11 0 0 ./. 4 2 4 4 21 28 21 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278297 3 181616181 GT G 480 PASS - - - - - Del - D 181616181 181616190 1 21 428.947 - - 8 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 6 2 6 5 21 25 21 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278349 3 181772924 AT A 300 PASS - - - - - Del - D 181772924 181772933 1 12 269.973 - - 8 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 2 5 4 9 14 9 14 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278382 3 181949907 TA T 360 PASS - - - - - Del - D 181949907 181949915 1 15 323.968 - - 7 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 4 2 6 17 27 17 27 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278395 3 182003286 CA C 300 PASS - - - - - Del - D 182003286 182003295 1 10 269.973 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 1 5 5 27 28 27 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278445 3 182245509 GTA G 420 PASS - - - - - Del - D 182245509 182245513 2 14 377.963 - - 1 1 - - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 1 6 1 33 19 33 19 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278456 3 182288442 AT A 300 PASS - - - - - Del - D 182288442 182288450 1 10 269.973 - - 7 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 1 4 1 5 24 25 24 25 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278538 3 182529819 CT C 300 PASS ATP11B CCDS33896.1 r.? - - Del intronic D 182529819 182529829 1 12 269.973 - - 9 1 1 ATP11B|CCDS33896.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP11B|CCDS33896.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 2 3 3 25 18 25 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278658 3 182885750 TC T 420 PASS LAMP3 ENST00000476015 r.? - - Del upstream D 182885750 182885758 1 20 377.963 - - 7 1 1 LAMP3|ENST00000476015|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LAMP3|ENST00000476015|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 5 8 5 8 0 0 ./. 3 4 8 7 29 29 29 29 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278824 3 183352923 CA C 300 PASS KLHL24 CCDS3246.1 r.? - - Del upstream D 183352923 183352933 1 12 269.973 - - 9 1 1 KLHL24|CCDS3246.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KLHL24|CCDS3246.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 3 6 25 38 25 38 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760278983 3 183713604 G GT 300 PASS ABCC5 CCDS43176.1 r.? - - Ins intronic I 183713604 183713614 1 10 264.555 - - 9 1 1 ABCC5|CCDS43176.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCC5|CCDS43176.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 1 4 2 40 21 40 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760279120 3 184084292 A AT 371 PASS CLCN2 CCDS3263.1 r.? - - Ins upstream I 184084292 184084300 1 24 476.921 - - 7 1 1 CLCN2|CCDS3263.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 POLR2H|CCDS3264.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 14 0 0 ./. 7 2 8 2 39 23 39 25 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760279164 3 184167227 CT C 600 PASS EIF2B5 ENST00000444495 r.? - - Del intronic D 184167227 184167237 1 32 533.324 - - 9 1 1 EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 3 7 3 8 27 33 27 33 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760279245 3 184381178 TA T 300 PASS EIF2B5 ENST00000444495 r.? - - Del intronic D 184381178 184381184 1 12 269.973 - - 5 1 1 EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 4 4 28 33 28 33 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760279319 3 184558003 AT A 480 PASS VPS8 CCDS46971.1 r.? - - Del intronic D 184558003 184558012 1 21 431.957 - - 8 1 1 VPS8|CCDS46971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS8|ENST00000424463|r.2039delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 6 2 7 11 41 11 41 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760279406 3 184836455 TA T 360 PASS C3orf70 CCDS33900.1 r.? - - Del intronic D 184836455 184836464 1 16 323.968 - - 8 1 1 C3orf70|CCDS33900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C3orf70|CCDS33900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 3 4 4 14 20 14 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760279442 3 184908272 CA C 300 PASS EHHADH CCDS33901.1 r.? - - Del downstream D 184908272 184908281 1 12 269.371 - - 8 1 - EHHADH|CCDS33901.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 EHHADH|CCDS33901.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 3 5 21 31 21 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760279800 3 185727750 CT C 360 PASS - - - - - Del - D 185727750 185727760 1 16 323.968 - - 9 1 1 - - ./. 0 0 0 0 4 13 4 13 0 0 ./. 3 3 3 5 32 20 32 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760279847 3 185848172 AG A 360 PASS - - - - - Del - D 185848172 185848174 1 12 323.968 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 1 5 1 28 8 28 8 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760279860 3 185882309 C CT 300 PASS DGKG CCDS3274.1 r.? - - Ins intronic I 185882309 185882318 1 12 266.361 - - 8 1 1 DGKG|CCDS3274.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DGKG|CCDS3274.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 2 5 3 28 36 29 37 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760279944 3 186237824 CA C 480 PASS - - - - - Del - D 186237824 186237832 1 24 431.355 - - 7 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 3 5 5 8 27 33 27 33 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280004 3 186437219 GA G 360 PASS KNG1 CCDS43183.1 r.? - - Del intronic D 186437219 186437225 1 16 323.968 - - 5 1 1 KNG1|CCDS43183.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KNG1|CCDS43183.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 3 3 4 17 32 17 32 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280063 3 186538933 CT C 449 PASS - - - - - Del - D 186538933 186538942 1 25 431.957 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 4 4 5 19 28 19 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280206 3 186910854 GT G 360 PASS RTP1 CCDS3287.2 r.? - - Del upstream D 186910854 186910863 1 15 323.968 - - 8 1 1 RTP1|CCDS3287.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RTP1|CCDS3287.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 4 2 5 23 33 23 33 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280331 3 187242702 AC A 300 PASS - - - - - Del - D 187242702 187242709 1 10 269.973 - - 6 1 1 - - ./. 0 0 0 0 3 12 3 12 0 0 ./. 1 4 5 5 29 22 29 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280401 3 187447818 GA G 420 PASS BCL6 CCDS3289.1 r.751-10delu c.384-10delt p.? Del splice region D 187447818 187447826 1 18 377.963 - - 7 1 1 BCL6|CCDS3289.1|r.751-10delu|c.384-10delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 BCL6|CCDS3289.1|r.751-10delu|c.384-10delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 7 15 7 15 0 0 ./. 2 5 2 7 20 22 20 22 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280424 3 187517475 AT A 360 PASS - - - - - Del - D 187517475 187517485 1 16 323.968 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 4 6 23 26 23 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280552 3 187976471 C CA 420 PASS LPP CCDS3291.1 r.? - - Ins intronic I 187976471 187976480 1 20 365.319 - - 8 1 1 LPP|CCDS3291.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LPP|CCDS3291.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 9 16 0 0 ./. 3 4 4 5 38 30 39 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280574 3 188070885 C CT 300 PASS LPP CCDS3291.1 r.? - - Ins intronic I 188070885 188070893 1 12 266.963 - - 7 1 1 LPP|CCDS3291.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LPP|CCDS3291.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 6 4 22 26 23 26 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280655 3 188274120 GT G 360 PASS LPP CCDS3291.1 r.? - - Del intronic D 188274120 188274129 1 16 323.968 - - 8 1 1 LPP|CCDS3291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPP|CCDS3291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 5 3 23 24 23 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280773 3 188581533 CT C 360 PASS LPP CCDS3291.1 r.? - - Del intronic D 188581533 188581541 1 15 322.764 - - 7 1 1 LPP|CCDS3291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPP|CCDS3291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 2 4 4 22 30 22 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280845 3 188777388 CA C 420 PASS TPRG1 CCDS3292.1 r.? - - Del intronic D 188777388 188777394 1 20 377.963 - - 5 1 1 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 3 5 6 20 28 20 28 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760280860 3 188867643 TA T 300 PASS TPRG1 CCDS3292.1 r.? - - Del intronic D 188867643 188867653 1 12 269.973 - - 9 1 1 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 5 3 31 24 31 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760281013 3 189426735 GT G 300 PASS TP63 CCDS3293.1 r.? - - Del intronic D 189426735 189426742 1 10 269.973 - - 6 1 1 TP63|CCDS3293.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TP63|CCDS3293.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 4 2 5 16 21 16 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760281059 3 189563568 AT A 420 PASS TP63 CCDS3293.1 r.? - - Del intronic D 189563568 189563578 1 20 377.963 - - 9 1 1 TP63|CCDS3293.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TP63|CCDS3293.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 4 5 4 28 25 28 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760281335 3 190276627 TG T 360 PASS IL1RAP CCDS3298.1 r.? - - Del intronic D 190276627 190276630 1 16 323.968 - - 2 1 1 IL1RAP|CCDS3298.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IL1RAP|CCDS3298.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 3 3 4 23 19 23 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760281375 3 190378531 A AT 300 PASS IL1RAP ENST00000317757 r.? - - Ins downstream I 190378531 190378538 1 10 266.963 - - 6 1 1 IL1RAP|ENST00000317757|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 IL1RAP|ENST00000317757|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 1 6 1 21 20 21 20 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760281451 3 190711543 CT C 300 PASS - - - - - Del - D 190711543 190711553 1 12 269.973 - - 9 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 3 2 6 5 31 35 31 35 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760281514 3 190894438 TA T 300 PASS - - - - - Del - D 190894438 190894447 1 12 269.973 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 4 4 25 24 25 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760281646 3 191176408 CT C 420 PASS - - - - - Del - D 191176408 191176416 1 14 374.952 - - 7 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 6 1 7 2 26 25 26 25 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760281833 3 191796904 C CA 420 PASS - - - - - Ins - I 191796904 191796912 1 18 373.748 - - 7 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 2 7 3 24 21 24 21 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760282119 3 192918797 CT C 412 PASS - - - - - Del - D 192918797 192918807 1 18 377.963 - - 9 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 2 6 6 30 19 30 19 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760282260 3 193345840 TC T 540 PASS OPA1 CCDS33917.1 r.? - - Del intronic D 193345840 193345846 1 30 485.952 - - 5 1 1 OPA1|CCDS33917.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OPA1|CCDS33917.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 5 4 5 6 25 24 25 24 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760282285 3 193411429 CA C 420 PASS OPA1 CCDS33917.1 r.? - - Del intronic D 193411429 193411439 1 18 377.963 - - 9 1 1 OPA1|CCDS33917.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 OPA1|CCDS33917.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 5 2 6 3 18 23 18 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760282468 3 193902037 CT C 420 PASS - - - - - Del - D 193902037 193902046 1 20 375.554 - - 8 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 4 3 5 3 21 24 21 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760282656 3 194333403 C CT 300 PASS TMEM44 CCDS3308.1 r.? - - Ins intronic I 194333403 194333412 1 10 261.544 - - 8 1 1 TMEM44|CCDS3308.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM44|CCDS3308.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 1 5 3 24 21 24 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760282694 3 194404562 CT C 480 PASS FAM43A CCDS33923.1 r.? - - Del upstream D 194404562 194404572 1 24 431.957 - - 9 1 - FAM43A|CCDS33923.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 FAM43A|CCDS33923.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 3 5 5 25 20 25 20 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760282735 3 194536907 CA C 540 PASS - - - - - Del - D 194536907 194536917 1 28 485.952 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 3 6 4 30 29 30 29 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760282743 3 194555604 CA C 480 PASS - - - - - Del - D 194555604 194555614 1 24 426.539 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 3 7 4 28 30 28 30 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760282850 3 194935373 AG A 265 PASS C3orf21 CCDS43188.1 r.? - - Del intronic D 194935373 194935378 1 18 377.963 - - 4 1 1 C3orf21|CCDS43188.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C3orf21|CCDS43188.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 2 5 2 22 17 22 17 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760282960 3 195287420 C CA 300 PASS - - - - - Ins - I 195287420 195287427 1 10 266.963 - - 6 1 1 - - ./. 0 0 0 0 9 11 10 11 0 0 ./. 1 4 1 5 17 27 17 27 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760283156 3 195595228 C CG 360 PASS TNK2 CCDS33927.1 r.2274_2275insc c.2129_2130insC p.P711fs*4 Ins frameshift I 195595228 195595237 1 16 313.733 - - 8 1 1 TNK2|CCDS33927.1|r.2274_2275insc|c.2129_2130insC|p.P711fs*4|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 TNK2|CCDS33927.1|r.2274_2275insc|c.2129_2130insC|p.P711fs*4|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 7 4 7 4 0 0 ./. 3 3 3 4 23 24 23 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760283265 3 195820408 TA T 360 PASS - - - - - Del - D 195820408 195820417 1 12 323.968 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 1 6 2 37 15 37 15 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760283315 3 195941414 TG T 300 PASS ENSG00000163959 CCDS3314.1 r.? - - Del upstream D 195941414 195941424 1 12 269.973 - - 9 1 1 ENSG00000163959|CCDS3314.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PCYT1A|ENST00000441879|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 5 5 23 21 23 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760283581 3 196462009 C CA 360 PASS PIGX CCDS3320.1 r.2171_2172insa c.? p.? Ins 3'UTR variant I 196462009 196462017 1 15 319.754 - - 7 1 1 PIGX|CCDS3320.1|r.2171_2172insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 PIGX|CCDS3320.1|r.2171_2172insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 4 5 6 15 20 15 21 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760283756 3 196881170 CA C 360 PASS DLG1 CCDS3327.1 r.? - - Del intronic D 196881170 196881179 1 16 323.968 - - 8 1 1 DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 26 15 26 0 0 ./. 3 3 4 3 24 8 24 8 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760283797 3 197010232 CA C 360 PASS DLG1 CCDS3327.1 r.? - - Del intronic D 197010232 197010242 1 7 323.366 - - 9 1 1 DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 0 6 0 8 0 25 0 25 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760283804 3 197017033 GA G 300 PASS DLG1 CCDS3327.1 r.? - - Del intronic D 197017033 197017043 1 10 269.973 - - 9 1 1 DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 4 1 5 2 25 19 25 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760283918 3 197346770 GA G 272 PASS - - - - - Del - D 197346770 197346780 1 12 269.371 - - 9 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 2 3 3 19 27 19 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284056 3 197754224 CT C 480 PASS LMLN CCDS3332.1 r.? - - Del intronic D 197754224 197754233 1 24 431.957 - - 8 1 1 LMLN|CCDS3332.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMLN|CCDS3332.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 5 4 9 30 32 30 32 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284074 3 197803397 GA G 420 PASS - - - - - Del - D 197803397 197803407 1 14 376.156 - - 9 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 6 2 8 22 24 22 24 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284187 4 74044 TA T 300 PASS - - - - - Del - D 74044 74054 1 12 264.234 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 3 5 22 28 22 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284253 4 267784 C CA 300 PASS ENSG00000186777 CCDS46990.1 r.? - - Ins intronic I 267784 267792 1 10 266.642 - - 7 1 1 ENSG00000186777|CCDS46990.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000186777|CCDS46990.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 20 16 0 0 ./. 1 4 2 6 6 25 6 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284299 4 388953 AT A 263 PASS ENSG00000186777 ENST00000414523 r.? - - Del intronic D 388953 388961 1 20 360.656 - - 7 1 1 ENSG00000186777|ENST00000414523|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000186777|ENST00000414523|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 4 4 5 28 17 28 17 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284344 4 469381 CT C 360 PASS ABCA11P ENST00000338977 r.? - - Del intronic D 469381 469389 1 15 323.583 - - 7 1 1 ABCA11P|ENST00000338977|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ABCA11P|ENST00000338977|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 2 4 2 6 29 19 29 19 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284423 4 711183 C CT 261 PASS PCGF3 CCDS3339.2 r.? - - Ins intronic I 711183 711193 1 12 261.224 - - 9 1 1 PCGF3|CCDS3339.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PCGF3|CCDS3339.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 3 2 3 28 32 29 32 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284592 4 1149683 CT C 300 PASS - - - - - Del - D 1149683 1149689 1 12 269.652 - - 5 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 5 2 29 24 29 24 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284664 4 1380681 A AT 360 PASS ENSG00000163945 CCDS33938.1 r.3509_3510insu c.? p.? Ins 3'UTR variant I 1380681 1380688 1 7 318.766 - - 6 1 1 ENSG00000163945|CCDS33938.1|r.3509_3510insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ENSG00000163945|CCDS33938.1|r.3509_3510insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 5 9 5 9 0 0 ./. 0 6 0 7 8 31 8 32 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284668 4 1396144 GA G 360 PASS NKX1-1 ENST00000422806 r.? - - Del downstream D 1396144 1396149 1 16 316.96 - - 4 1 1 NKX1-1|ENST00000422806|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NKX1-1|ENST00000422806|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 3 4 3 27 19 27 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284711 4 1637853 CG C 360 PASS FAM53A CCDS33939.1 r.? - - Del downstream D 1637853 1637855 1 12 322.981 - - 1 1 1 FAM53A|CCDS33939.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FAM53A|ENST00000489029|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 1 5 3 26 16 26 16 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284771 4 1766979 TC T 300 PASS - - - - - Del - D 1766979 1766985 1 10 269.652 - - 5 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 1 4 3 30 31 30 31 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284791 4 1870908 TC T 300 PASS WHSC1 ENST00000508803 r.? - - Del upstream D 1870908 1870911 1 10 269.652 - - 2 1 1 WHSC1|ENST00000508803|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 WHSC1|ENST00000508803|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 1 4 1 29 28 29 28 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760284804 4 1916062 CT C 360 PASS WHSC1 CCDS3356.1 r.? - - Del intronic D 1916062 1916072 1 16 322.981 - - 9 1 1 WHSC1|CCDS3356.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WHSC1|CCDS3356.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 3 5 5 22 22 22 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285091 4 2702234 TAAG T 420 PASS FAM193A CCDS33943.1 r.3814_3816delAAG c.3463_3465delAAG p.K1158delK Del inframe D 2702234 2702246 3 18 377.513 - - 3 1 1 FAM193A|CCDS33943.1|r.3814_3816delAAG|c.3463_3465delAAG|p.K1158delK|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 FAM193A|CCDS33943.1|r.3814_3816delAAG|c.3463_3465delAAG|p.K1158delK|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 5 2 5 24 29 24 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285142 4 2772872 TA T 420 PASS - - - - - Del - D 2772872 2772881 1 20 376.911 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 4 4 7 27 19 27 19 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285157 4 2784928 C CT 300 PASS - - - - - Ins - I 2784928 2784935 1 10 266.642 - - 6 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 1 4 1 6 22 31 22 31 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285206 4 2896575 TA T 360 PASS ADD1 CCDS3364.1 r.? - - Del intronic D 2896575 2896585 1 12 323.583 - - 9 1 1 ADD1|CCDS3364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADD1|CCDS3364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 1 5 3 23 16 23 16 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285211 4 2921503 TA T 300 PASS ADD1 CCDS3364.1 r.? - - Del intronic D 2921503 2921512 1 12 269.652 - - 8 1 1 ADD1|CCDS3364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADD1|CCDS3364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 3 2 7 19 22 19 22 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285257 4 3064387 CG C 360 PASS - - - - - Del - D 3064387 3064389 1 16 323.583 - - 1 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 3 3 5 33 31 33 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285284 4 3158966 ATACT A 420 PASS HTT CCDS43206.1 r.? - - Del intronic D 3158966 3158974 4 20 371.493 - - 1 1 1 HTT|CCDS43206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HTT|CCDS43206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 3 5 3 22 27 22 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285666 4 3962687 CA C 300 PASS AC226119.1 ENST00000509919 r.? - - Del upstream D 3962687 3962694 1 10 269.652 - - 6 1 1 AC226119.1|ENST00000509919|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 AC226119.1|ENST00000509919|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 3 14 3 14 0 0 ./. 1 4 1 4 13 20 13 20 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285689 4 4031924 AC A 360 PASS AC116562.2 ENST00000503960 r.? - - Del upstream D 4031924 4031929 1 15 323.583 - - 4 1 1 AC116562.2|ENST00000503960|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 AC116562.2|ENST00000503960|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 4 2 6 15 34 15 34 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285802 4 4327278 TGC T 540 PASS ZBTB49 CCDS3375.1 r.? - - Del downstream D 4327278 4327282 2 28 481.762 - - 1 1 1 ZBTB49|CCDS3375.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZBTB49|CCDS3375.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 10 6 10 0 0 ./. 6 3 8 3 28 22 28 22 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285960 4 4838164 AT A 300 PASS - - - - - Del - D 4838164 4838174 1 10 267.846 - - 9 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 1 4 1 17 26 17 26 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760285992 4 4968670 TA T 660 PASS - - - - - Del - D 4968670 4968679 1 42 593.235 - - 8 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 5 7 5 18 25 18 25 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760286075 4 5184179 CT C 360 PASS STK32B CCDS3380.1 r.? - - Del intronic D 5184179 5184189 1 15 323.583 - - 9 1 1 STK32B|CCDS3380.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK32B|CCDS3380.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 15 23 15 0 0 ./. 2 4 3 5 23 38 23 38 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760286195 4 5712246 AAC A 360 PASS EVC CCDS3383.1 r.? - - Del upstream D 5712246 5712258 2 15 322.981 - - 5 1 1 EVC|CCDS3383.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 EVC|CCDS3383.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 4 2 4 30 27 30 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760286211 4 5746915 TC T 300 PASS EVC CCDS3383.1 r.? - - Del intronic D 5746915 5746917 1 6 269.652 - - 1 1 1 EVC|CCDS3383.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EVC|CCDS3383.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 0 5 0 30 8 30 8 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760286245 4 5823776 TC T 300 PASS EVC CCDS3383.1 r.? - - Del intronic D 5823776 5823783 1 6 269.652 - - 6 1 1 EVC|CCDS3383.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 EVC|CCDS3383.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 5 0 6 2 27 30 27 30 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760286278 4 5925141 AG A 420 PASS C4orf50 CCDS3384.1 r.? - - Del intronic D 5925141 5925147 1 20 376.309 - - 5 1 1 C4orf50|CCDS3384.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 C4orf50|CCDS3384.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 4 3 6 16 27 16 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760286380 4 6226195 TA T 300 PASS - - - - - Del - D 6226195 6226204 1 10 269.652 - - 8 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 4 1 8 2 37 18 37 18 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760286495 4 6627467 CA C 445 PASS MAN2B2 CCDS33951.1 r.? - - Del downstream D 6627467 6627477 1 32 539.305 - - 9 1 1 MAN2B2|CCDS33951.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MAN2B2|CCDS33951.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 11 12 11 0 0 ./. 7 3 12 4 31 24 31 24 12 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760286768 4 7371865 CT C 300 PASS SORCS2 CCDS47008.1 r.? - - Del intronic D 7371865 7371874 1 12 269.652 - - 8 1 1 SORCS2|CCDS47008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORCS2|CCDS47008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 3 6 3 38 33 38 33 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760286858 4 7600313 TG T 420 PASS SORCS2 CCDS47008.1 r.? - - Del intronic D 7600313 7600320 1 18 377.513 - - 6 1 1 SORCS2|CCDS47008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORCS2|CCDS47008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 2 5 4 6 31 24 31 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760286870 4 7632540 CCT C 300 PASS SORCS2 CCDS47008.1 r.? - - Del intronic D 7632540 7632543 2 6 269.652 - - 1 1 1 SORCS2|CCDS47008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORCS2|CCDS47008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 0 5 0 5 22 34 22 34 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760286991 4 7950168 GT G 420 PASS - - - - - Del - D 7950168 7950177 1 18 375.707 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 2 6 7 36 30 36 30 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760287027 4 8135713 AG A 360 PASS ABLIM2 CCDS47015.1 r.? - - Del intronic D 8135713 8135722 1 7 323.583 - - 8 1 1 ABLIM2|CCDS47015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABLIM2|CCDS47015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 0 6 2 6 17 19 17 19 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760287086 4 8320138 G GA 360 PASS - - - - - Ins - I 8320138 8320144 1 12 319.971 - - 5 1 1 - - ./. 0 0 0 0 11 7 12 7 0 0 ./. 5 1 7 2 29 22 29 22 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760287190 4 8681862 CAG C 360 PASS - - - - - Del - D 8681862 8681876 2 12 322.379 - - 6 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 1 5 1 5 22 35 22 35 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760287257 4 8930269 GA G 300 PASS - - - - - Del - D 8930269 8930279 1 10 267.846 - - 9 1 1 - - ./. 0 0 0 0 10 22 10 22 0 0 ./. 4 1 4 1 27 15 27 15 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760287341 4 9184273 CT C 534 PASS ENSG00000226350 ENST00000429096 r.? - - Del intronic D 9184273 9184282 1 24 485.374 - - 8 1 1 ENSG00000226350|ENST00000429096|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ENSG00000226350|ENST00000429096|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 7 5 7 16 16 16 16 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760287646 4 10109274 TG T 300 PASS WDR1 ENST00000382452 r.? - - Del intronic D 10109274 10109280 1 12 268.448 - - 5 1 1 WDR1|ENST00000382452|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR1|ENST00000382452|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 2 3 2 35 24 35 24 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760287755 4 10440428 CA C 420 PASS ZNF518B CCDS33960.1 r.? - - Del downstream D 10440428 10440436 1 20 377.513 - - 7 1 1 ZNF518B|CCDS33960.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF518B|CCDS33960.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 12 5 12 0 0 ./. 4 3 6 3 27 24 27 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760287789 4 10494335 TG T 300 PASS CLNK CCDS47024.1 r.? - - Del intronic D 10494335 10494342 1 10 269.652 - - 6 1 1 CLNK|CCDS47024.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLNK|CCDS47024.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 1 4 1 30 30 30 30 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760287810 4 10562698 A AT 360 PASS CLNK CCDS47024.1 r.? - - Ins intronic I 10562698 10562708 1 15 319.369 - - 9 1 1 CLNK|CCDS47024.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLNK|CCDS47024.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 10 14 0 0 ./. 4 2 5 1 33 28 34 28 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760287873 4 10797866 CT C 360 PASS - - - - - Del - D 10797866 10797876 1 15 323.583 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 4 3 4 24 19 24 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288187 4 11802429 G GC 300 PASS - - - - - Ins - I 11802429 11802439 1 6 266.642 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 0 5 2 5 5 17 5 18 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288221 4 12033333 GA G 300 PASS - - - - - Del - D 12033333 12033338 1 12 269.652 - - 4 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 3 5 4 21 25 21 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288331 4 12602560 TAA T 360 PASS - - - - - Del - D 12602560 12602566 2 12 323.583 - - 5 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 1 5 1 5 13 24 13 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288362 4 12681698 GA G 480 PASS - - - - - Del - D 12681698 12681708 1 24 431.444 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 3 5 3 21 21 21 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288515 4 13239746 C CA 420 PASS - - - - - Ins - I 13239746 13239756 1 18 372.697 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 2 5 3 30 21 30 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288520 4 13290167 T TTTG 300 PASS - - - - - Ins - I 13290167 13290195 3 12 260.019 - - 9 1 - - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 2 3 4 35 30 35 32 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288537 4 13390037 ACTC A 360 PASS RAB28 CCDS3409.1 r.? - - Del intronic D 13390037 13390043 3 15 323.583 - - 1 1 1 RAB28|CCDS3409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB28|CCDS3409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 4 2 4 19 37 19 37 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288554 4 13519672 AT A 300 PASS - - - - - Del - D 13519672 13519682 1 12 269.652 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 3 3 23 17 23 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288695 4 13991813 C CT 300 PASS - - - - - Ins - I 13991813 13991822 1 10 266.04 - - 8 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 1 4 4 6 23 33 23 33 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288729 4 14107501 AT A 300 PASS - - - - - Del - D 14107501 14107507 1 12 269.652 - - 5 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 3 3 17 25 17 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288809 4 14329470 GA G 420 PASS - - - - - Del - D 14329470 14329479 1 14 372.697 - - 8 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 1 7 2 24 7 24 7 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760288817 4 14356376 CT C 420 PASS - - - - - Del - D 14356376 14356385 1 20 377.513 - - 8 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 4 3 4 12 22 12 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760289401 4 16456633 TA T 420 PASS - - - - - Del - D 16456633 16456643 1 20 377.513 - - 9 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 3 6 4 25 32 25 32 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760289438 4 16576979 TA T 420 PASS LDB2 CCDS3420.1 r.? - - Del intronic D 16576979 16576988 1 18 377.513 - - 8 1 1 LDB2|CCDS3420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LDB2|CCDS3420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 5 3 6 23 27 23 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760289477 4 16687673 TA T 329 PASS LDB2 CCDS3420.1 r.? - - Del intronic D 16687673 16687683 1 15 319.971 - - 9 1 1 LDB2|CCDS3420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LDB2|CCDS3420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 4 2 4 24 36 24 36 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760289496 4 16746090 AT A 300 PASS LDB2 CCDS3420.1 r.? - - Del intronic D 16746090 16746100 1 10 267.244 - - 9 1 1 LDB2|CCDS3420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LDB2|CCDS3420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 1 4 2 7 11 25 11 25 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760289673 4 17325472 A AT 420 PASS - - - - - Ins - I 17325472 17325481 1 14 373.299 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 6 2 7 22 27 23 28 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760289674 4 17325787 CCAGA C 298 PASS - - - - - Del - D 17325787 17325794 4 15 322.379 - - 1 1 1 - - ./. 0 0 0 0 7 20 7 20 0 0 ./. 4 2 5 4 18 24 18 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760289833 4 17636400 ATTC A 418 PASS FAM184B CCDS47033.1 r.? - - Del intronic D 17636400 17636406 3 25 431.444 - - 1 1 1 FAM184B|CCDS47033.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM184B|CCDS47033.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 4 4 4 27 30 27 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760289884 4 17739292 T TC 480 PASS FAM184B CCDS47033.1 r.? - - Ins intronic I 17739292 17739298 1 24 426.627 - - 5 1 1 FAM184B|CCDS47033.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM184B|CCDS47033.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 16 10 0 0 ./. 3 5 5 5 33 32 33 33 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760289945 4 18189744 TG T 300 PASS - - - - - Del - D 18189744 18189750 1 12 269.652 - - 5 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 3 3 28 24 28 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760289950 4 18223043 C CA 535 PASS - - - - - Ins - I 18223043 18223044 1 30 479.956 - - 0 1 1 - - ./. 0 0 0 0 8 10 8 11 0 0 ./. 5 4 5 5 20 30 20 30 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760289998 4 18382820 G GT 360 PASS - - - - - Ins - I 18382820 18382828 1 7 319.971 - - 7 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 0 6 1 7 9 33 9 33 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290107 4 18773676 TA T 600 PASS - - - - - Del - D 18773676 18773686 1 27 539.305 - - 9 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 8 2 8 6 27 27 27 27 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290175 4 18974879 AT A 480 PASS - - - - - Del - D 18974879 18974886 1 25 431.444 - - 6 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 4 5 5 28 32 28 32 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290196 4 19069962 G GA 420 PASS - - - - - Ins - I 19069962 19069971 1 18 373.299 - - 8 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 5 2 6 2 34 14 34 15 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290316 4 19536617 GA G 329 PASS - - - - - Del - D 19536617 19536625 1 16 322.981 - - 7 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 3 3 3 3 19 24 19 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290369 4 19765203 GT G 300 PASS - - - - - Del - D 19765203 19765213 1 10 268.448 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 1 6 6 23 22 23 22 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290413 4 19968806 AT A 420 PASS - - - - - Del - D 19968806 19968811 1 20 377.513 - - 4 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 3 4 3 4 17 28 17 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290474 4 20218090 CGA C 300 PASS - - - - - Del - D 20218090 20218101 2 12 269.652 - - 5 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 2 5 2 28 12 28 12 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290654 4 20858137 TGTGA T 269 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 20858137 20858144 4 12 269.652 - - 1 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 2 3 3 21 24 21 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290690 4 20982586 AT A 360 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 20982586 20982593 1 15 323.583 - - 6 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 2 4 2 29 28 29 28 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290757 4 21241241 G GA 304 PASS KCNIP4 CCDS43217.1 r.? - - Ins intronic I 21241241 21241248 1 24 426.025 - - 6 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 5 3 5 3 31 41 32 41 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290770 4 21277590 CA C 300 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 21277590 21277600 1 6 269.652 - - 9 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 0 5 2 6 26 30 26 30 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290795 4 21367889 T TA 360 PASS KCNIP4 CCDS43217.1 r.? - - Ins intronic I 21367889 21367897 1 15 319.369 - - 7 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 4 2 4 26 32 26 32 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760290806 4 21388051 TA T 300 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 21388051 21388061 1 12 269.652 - - 9 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 4 6 20 22 20 22 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760291180 4 22636700 GC G 300 PASS - - - - - Del - D 22636700 22636706 1 12 269.05 - - 5 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 3 2 5 2 25 19 25 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760291278 4 23139856 GA G 360 PASS - - - - - Del - D 23139856 23139866 1 12 323.583 - - 9 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 1 5 1 16 13 16 13 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760291337 4 23298312 GA G 420 PASS - - - - - Del - D 23298312 23298317 1 20 377.513 - - 4 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 4 4 4 21 25 21 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760291356 4 23360403 GA G 420 PASS - - - - - Del - D 23360403 23360413 1 14 377.513 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 6 1 7 18 26 18 26 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760291872 4 24802555 CT C 420 PASS SOD3 CCDS3430.1 r.? - - Del downstream D 24802555 24802564 1 20 375.105 - - 8 1 1 SOD3|CCDS3430.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 SOD3|CCDS3430.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 4 3 5 20 28 20 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760291924 4 24972050 AC A 480 PASS CCDC149 ENST00000389609 r.? - - Del intronic D 24972050 24972056 1 24 430.842 - - 5 1 1 CCDC149|ENST00000389609|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCDC149|ENST00000389609|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 3 6 4 23 31 23 31 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760291961 4 25058794 TC T 360 PASS - - - - - Del - D 25058794 25058803 1 15 323.583 - - 8 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 2 4 4 5 24 21 24 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292074 4 25370335 CA C 480 PASS ZCCHC4 CCDS43218.1 r.? - - Del intronic D 25370335 25370342 1 21 429.036 - - 6 1 1 ZCCHC4|CCDS43218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZCCHC4|CCDS43218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 6 3 7 24 27 24 27 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292138 4 25491399 TA T 540 PASS - - - - - Del - D 25491399 25491408 1 28 485.374 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 6 5 8 27 32 27 32 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292250 4 25708023 CT C 360 PASS ENSG00000237795 ENST00000438783 r.? - - Del intronic D 25708023 25708032 1 12 323.583 - - 8 1 1 ENSG00000237795|ENST00000438783|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237795|ENST00000438783|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 5 2 5 17 30 17 30 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292290 4 25804212 CT C 300 PASS SEL1L3 CCDS47037.1 r.? - - Del intronic D 25804212 25804222 1 12 269.652 - - 9 1 1 SEL1L3|CCDS47037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEL1L3|CCDS47037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 4 3 24 24 24 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292321 4 25941492 TA T 360 PASS - - - - - Del - D 25941492 25941502 1 15 323.583 - - 9 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 2 4 4 5 29 31 29 31 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292399 4 26186458 CT C 329 PASS RBPJ ENST00000512351 r.? - - Del intronic D 26186458 26186466 1 16 320.573 - - 7 1 1 RBPJ|ENST00000512351|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RBPJ|ENST00000512351|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 3 5 5 23 24 23 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292470 4 26421917 GT G 300 PASS RBPJ CCDS33969.1 r.? - - Del intronic D 26421917 26421925 1 10 269.05 - - 7 1 1 RBPJ|CCDS33969.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBPJ|CCDS33969.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 1 4 2 25 3 25 3 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292687 4 27166425 CGT C 360 PASS - - - - - Del - D 27166425 27166442 2 15 323.583 - - 8 1 - - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 2 4 2 25 20 25 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292786 4 27597755 AGT A 360 PASS - - - - - Del - D 27597755 27597771 2 16 323.583 - - 7 1 - - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 7 4 29 32 29 32 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292788 4 27604710 CA C 540 PASS - - - - - Del - D 27604710 27604720 1 28 485.374 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 6 3 7 20 24 20 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292797 4 27639674 TA T 360 PASS - - - - - Del - D 27639674 27639684 1 12 323.583 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 1 5 2 23 20 23 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760292985 4 28121993 TCA T 660 PASS - - - - - Del - D 28121993 28121998 2 36 592.633 - - 2 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 8 3 8 3 31 20 31 20 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760293089 4 28478663 CT C 300 PASS - - - - - Del - D 28478663 28478673 1 6 269.652 - - 9 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 0 5 1 5 2 22 2 22 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760293122 4 28573115 GA G 360 PASS - - - - - Del - D 28573115 28573123 1 15 323.583 - - 7 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 4 2 7 14 34 14 34 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760293140 4 28638798 TA T 300 PASS - - - - - Del - D 28638798 28638808 1 12 269.652 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 2 3 3 24 20 24 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760293448 4 29608002 CA C 300 PASS - - - - - Del - D 29608002 29608012 1 10 269.652 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 1 4 1 22 23 22 23 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760293633 4 30220643 A AT 300 PASS ENSG00000237496 ENST00000424014 r.? - - Ins intronic I 30220643 30220646 1 12 266.642 - - 2 1 1 ENSG00000237496|ENST00000424014|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000237496|ENST00000424014|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 3 3 5 19 27 19 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760293645 4 30284362 CT C 540 PASS ENSG00000237496 ENST00000424014 r.? - - Del intronic D 30284362 30284372 1 24 485.374 - - 9 1 1 ENSG00000237496|ENST00000424014|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237496|ENST00000424014|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 7 2 9 2 33 20 33 20 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760293740 4 30791225 GT G 360 PASS PCDH7 CCDS43220.1 r.? - - Del intronic D 30791225 30791235 1 16 323.583 - - 9 1 1 PCDH7|CCDS43220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH7|CCDS43220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 3 4 25 30 25 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760293751 4 30822584 T TA 480 PASS PCDH7 CCDS43220.1 r.? - - Ins intronic I 30822584 30822593 1 25 426.627 - - 8 1 1 PCDH7|CCDS43220.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCDH7|CCDS43220.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 8 21 8 0 0 ./. 4 4 4 6 30 26 30 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760293779 4 30900646 GA G 600 PASS PCDH7 CCDS43220.1 r.? - - Del intronic D 30900646 30900656 1 36 539.305 - - 9 1 1 PCDH7|CCDS43220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH7|CCDS43220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 5 5 7 25 28 25 28 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760293817 4 31005464 AG A 300 PASS PCDH7 CCDS43220.1 r.? - - Del intronic D 31005464 31005467 1 12 269.652 - - 2 1 1 PCDH7|CCDS43220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH7|CCDS43220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 3 6 3 34 19 34 19 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760293928 4 31315995 TA T 480 PASS - - - - - Del - D 31315995 31316004 1 24 431.444 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 3 5 3 25 24 25 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760294002 4 31532516 GT G 360 PASS - - - - - Del - D 31532516 31532524 1 15 319.971 - - 7 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 2 6 4 25 23 25 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760294010 4 31540216 CT C 360 PASS - - - - - Del - D 31540216 31540226 1 15 323.583 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 2 10 2 30 5 30 5 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760294128 4 31948754 AT A 569 PASS - - - - - Del - D 31948754 31948762 1 35 539.305 - - 7 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 6 4 8 7 26 31 26 31 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760294358 4 32894812 GA G 269 PASS - - - - - Del - D 32894812 32894822 1 10 269.652 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 4 1 6 11 23 11 23 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760294375 4 32945164 CA C 277 PASS - - - - - Del - D 32945164 32945169 1 12 268.448 - - 4 1 - - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 4 3 22 23 22 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760294483 4 33318134 TA T 600 PASS - - - - - Del - D 33318134 33318140 1 36 539.305 - - 5 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 5 5 6 35 27 35 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760294551 4 33754934 CA C 300 PASS - - - - - Del - D 33754934 33754940 1 12 269.652 - - 5 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 2 3 23 26 23 26 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760294560 4 33810142 CT C 480 PASS - - - - - Del - D 33810142 33810151 1 25 427.832 - - 8 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 4 4 4 18 19 18 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760294562 4 33830614 CT C 480 PASS - - - - - Del - D 33830614 33830624 1 25 430.842 - - 9 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 4 4 4 7 30 24 30 24 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760295073 4 35623085 GT G 360 PASS - - - - - Del - D 35623085 35623094 1 16 322.981 - - 8 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 3 3 3 28 26 28 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760295103 4 35698015 AG A 298 PASS - - - - - Del - D 35698015 35698017 1 16 323.583 - - 1 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 3 4 3 24 14 24 14 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760295115 4 35727516 TC T 420 PASS - - - - - Del - D 35727516 35727524 1 18 373.901 - - 7 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 5 5 5 22 37 22 37 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760295193 4 35988667 T TA 300 PASS - - - - - Ins - I 35988667 35988676 1 10 266.642 - - 8 1 1 - - ./. 0 0 0 0 16 15 17 15 0 0 ./. 4 1 4 4 34 23 34 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760295358 4 36508707 CT C 629 PASS - - - - - Del - D 36508707 36508717 1 36 590.827 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 8 5 10 21 33 21 33 5 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760295723 4 37584441 TG T 300 PASS C4orf19 CCDS3442.1 r.? - - Del upstream D 37584441 37584449 1 10 269.05 - - 7 1 1 C4orf19|CCDS3442.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C4orf19|CCDS3442.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 4 3 4 17 28 17 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760295782 4 37728827 CA C 360 PASS - - - - - Del - D 37728827 37728835 1 15 323.583 - - 7 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 4 4 5 22 28 22 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760295899 4 38027834 TA T 480 PASS TBC1D1 CCDS33972.1 r.? - - Del intronic D 38027834 38027843 1 24 431.444 - - 8 1 1 TBC1D1|CCDS33972.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D1|CCDS33972.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 5 5 5 26 27 26 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760295901 4 38044823 GT G 269 PASS TBC1D1 CCDS33972.1 r.? - - Del intronic D 38044823 38044833 1 12 264.234 - - 9 1 1 TBC1D1|CCDS33972.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D1|CCDS33972.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 2 4 4 21 24 21 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760296026 4 38318453 TA T 300 PASS - - - - - Del - D 38318453 38318462 1 10 269.652 - - 8 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 1 5 2 20 21 20 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760296406 4 39169993 T TA 300 PASS - - - - - Ins - I 39169993 39170000 1 12 265.438 - - 6 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 2 3 2 3 14 33 14 33 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760296409 4 39176399 C CA 420 PASS - - - - - Ins - I 39176399 39176407 1 20 373.299 - - 7 1 1 - - ./. 0 0 0 0 12 22 12 22 0 0 ./. 3 4 4 5 24 35 24 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760296492 4 39405360 GA G 480 PASS KLB CCDS3451.1 r.? - - Del upstream D 39405360 39405370 1 21 430.24 - - 9 1 1 KLB|CCDS3451.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KLB|CCDS3451.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 6 17 6 17 0 0 ./. 2 6 5 7 17 31 17 31 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760296747 4 39798674 CT C 329 PASS - - - - - Del - D 39798674 39798683 1 16 323.583 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 3 5 4 23 31 23 31 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760296834 4 39955810 AC A 420 PASS PDS5A CCDS47045.1 r.? - - Del intronic D 39955810 39955812 1 20 376.309 - - 1 1 1 PDS5A|CCDS47045.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AC098591.3|ENST00000499303|r.1896delG|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 4 3 8 39 35 39 35 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760296911 4 40077344 CT C 300 PASS N4BP2 CCDS3457.1 r.? - - Del intronic D 40077344 40077353 1 12 269.652 - - 8 1 1 N4BP2|CCDS3457.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 N4BP2|CCDS3457.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 2 3 3 6 23 20 23 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760296930 4 40125012 CT C 540 PASS N4BP2 CCDS3457.1 r.? - - Del intronic D 40125012 40125022 1 28 485.374 - - 9 1 1 N4BP2|CCDS3457.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 N4BP2|CCDS3457.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 6 4 7 20 31 20 31 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760296954 4 40195808 AT A 300 PASS RHOH CCDS3458.1 r.? - - Del upstream D 40195808 40195813 1 12 269.652 - - 4 1 1 RHOH|CCDS3458.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RHOH|ENST00000505618|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 21 7 21 0 0 ./. 2 3 2 4 5 9 5 9 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297030 4 40368970 C CA 300 PASS - - - - - Ins - I 40368970 40368977 1 10 266.642 - - 6 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 1 4 1 6 7 28 7 28 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297076 4 40460771 GTT G 300 PASS RBM47 CCDS3460.1 r.? - - Del intronic D 40460771 40460781 2 12 269.05 - - 9 1 1 RBM47|CCDS3460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RBM47|CCDS3460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 2 5 2 19 14 19 14 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297096 4 40507213 GA G 269 PASS RBM47 CCDS3460.1 r.? - - Del intronic D 40507213 40507222 1 12 269.652 - - 8 1 1 RBM47|CCDS3460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RBM47|CCDS3460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 3 3 3 23 27 23 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297294 4 40889563 GA G 420 PASS APBB2 CCDS3837.1 r.? - - Del intronic D 40889563 40889573 1 18 376.911 - - 9 1 1 APBB2|CCDS3837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APBB2|CCDS3837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 2 5 5 39 24 39 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297354 4 41050864 AT A 294 PASS APBB2 CCDS3837.1 r.? - - Del intronic D 41050864 41050872 1 12 269.05 - - 7 1 1 APBB2|CCDS3837.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 APBB2|CCDS3837.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 4 2 18 16 18 16 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297385 4 41141605 T TA 300 PASS APBB2 CCDS3837.1 r.? - - Ins intronic I 41141605 41141614 1 12 266.642 - - 8 1 1 APBB2|CCDS3837.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 APBB2|CCDS3837.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 2 3 2 4 17 30 17 30 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297461 4 41302033 AT A 360 PASS - - - - - Del - D 41302033 41302043 1 15 322.981 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 2 6 3 28 27 28 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297483 4 41340046 CT C 540 PASS - - - - - Del - D 41340046 41340056 1 30 485.374 - - 9 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 4 5 6 5 27 32 27 32 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297563 4 41626170 CT C 300 PASS LIMCH1 CCDS33977.1 r.? - - Del intronic D 41626170 41626179 1 12 268.448 - - 8 1 1 LIMCH1|CCDS33977.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIMCH1|CCDS33977.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 4 2 21 12 21 12 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297728 4 42137815 CA C 420 PASS BEND4 CCDS47048.1 r.? - - Del intronic D 42137815 42137824 1 20 377.513 - - 8 1 1 BEND4|CCDS47048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BEND4|CCDS47048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 3 6 6 25 27 25 27 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297882 4 42525884 CT C 300 PASS ATP8A1 CCDS3466.1 r.? - - Del intronic D 42525884 42525894 1 10 269.652 - - 9 1 1 ATP8A1|CCDS3466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP8A1|CCDS3466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 1 4 3 22 18 22 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297907 4 42620869 AT A 420 PASS ATP8A1 CCDS3466.1 r.? - - Del intronic D 42620869 42620878 1 14 377.513 - - 8 1 1 ATP8A1|CCDS3466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP8A1|CCDS3466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 1 6 1 9 26 23 26 23 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760297934 4 42752733 CT C 480 PASS - - - - - Del - D 42752733 42752742 1 21 431.444 - - 8 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 6 2 7 2 34 14 34 14 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760298100 4 43387953 TA T 360 PASS - - - - - Del - D 43387953 43387960 1 16 323.583 - - 6 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 3 5 4 24 28 24 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760298166 4 43704813 AT A 420 PASS - - - - - Del - D 43704813 43704823 1 14 376.911 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 6 1 7 2 26 26 26 26 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760298250 4 44043527 C CAG 360 PASS - - - - - Ins - I 44043527 44043539 2 16 313.95 - - 5 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 3 3 3 22 28 22 28 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760298255 4 44085435 CT C 420 PASS - - - - - Del - D 44085435 44085444 1 20 377.513 - - 8 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 4 4 6 28 21 28 21 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760298613 4 45205828 CT C 300 PASS - - - - - Del - D 45205828 45205838 1 12 269.652 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 2 3 11 11 11 11 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760298659 4 45501193 GT G 420 PASS - - - - - Del - D 45501193 45501203 1 18 377.513 - - 9 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 2 5 5 6 17 33 17 33 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760298729 4 45833913 ACTT A 329 PASS - - - - - Del - D 45833913 45833923 3 12 323.583 - - 3 1 1 - - ./. 0 0 0 0 11 23 11 23 0 0 ./. 1 5 1 5 16 24 16 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760298751 4 45964028 ACTT A 300 PASS - - - - - Del - D 45964028 45964034 3 12 269.652 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 5 3 24 28 24 28 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760298845 4 46399830 AT A 480 PASS GABRA2 ENST00000510861 r.? - - Del intronic D 46399830 46399839 1 21 431.444 - - 8 1 1 GABRA2|ENST00000510861|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GABRA2|ENST00000510861|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 2 8 5 33 25 33 25 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760298855 4 46484541 CT C 600 PASS - - - - - Del - D 46484541 46484551 1 35 539.305 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 6 4 7 22 30 22 30 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760298898 4 46715804 A AT 300 PASS - - - - - Ins - I 46715804 46715814 1 12 266.04 - - 9 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 3 2 6 3 39 20 39 20 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760299182 4 47706239 GA G 540 PASS CORIN CCDS3477.1 r.? - - Del intronic D 47706239 47706249 1 30 484.17 - - 9 1 1 CORIN|CCDS3477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CORIN|CCDS3477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 4 8 4 27 33 27 33 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760299224 4 47885271 CA C 480 PASS NFXL1 CCDS3478.2 r.? - - Del intronic D 47885271 47885281 1 25 429.638 - - 9 1 1 NFXL1|CCDS3478.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFXL1|CCDS3478.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 5 15 5 0 0 ./. 4 4 5 7 27 32 27 32 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760299612 4 49016621 CT C 420 PASS CWH43 CCDS3486.1 r.? - - Del intronic D 49016621 49016631 1 18 377.513 - - 9 1 1 CWH43|CCDS3486.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CWH43|CCDS3486.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 2 6 4 35 19 35 19 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760300762 4 53558405 CA C 360 PASS - - - - - Del - D 53558405 53558411 1 12 323.583 - - 5 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 5 1 6 2 33 13 33 13 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760300849 4 53959022 C CA 420 PASS SCFD2 CCDS33984.1 r.? - - Ins intronic I 53959022 53959030 1 20 372.095 - - 7 1 1 SCFD2|CCDS33984.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCFD2|CCDS33984.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 12 0 0 ./. 4 3 5 5 25 21 25 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760300899 4 54164856 AC A 540 PASS SCFD2 CCDS33984.1 r.? - - Del intronic D 54164856 54164863 1 24 484.17 - - 6 1 1 SCFD2|CCDS33984.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCFD2|CCDS33984.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 2 7 2 41 18 41 18 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760301021 4 54457089 GA G 360 PASS LNX1 CCDS47057.1 r.? - - Del intronic D 54457089 54457099 1 15 323.583 - - 9 1 1 LNX1|CCDS47057.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LNX1|CCDS47057.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 4 6 6 19 46 19 46 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760301070 4 54625330 GT G 300 PASS AC110792.1 ENST00000511394 r.? - - Del intronic D 54625330 54625339 1 10 269.652 - - 8 1 1 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 7 20 7 0 0 ./. 4 1 4 1 21 6 21 6 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760301111 4 54694907 GT G 486 PASS AC110792.1 ENST00000511394 r.? - - Del intronic D 54694907 54694915 1 24 485.374 - - 7 1 1 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 20 9 20 0 0 ./. 7 2 7 4 34 19 34 19 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760301123 4 54739146 TA T 420 PASS AC110792.1 ENST00000511394 r.? - - Del intronic D 54739146 54739156 1 18 375.707 - - 9 1 1 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 2 6 2 25 26 25 26 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760301167 4 54896226 TA T 720 PASS CHIC2 CCDS3493.1 r.? - - Del intronic D 54896226 54896236 1 40 642.951 - - 9 1 1 CHIC2|CCDS3493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHIC2|CCDS3493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 3 9 3 11 7 26 7 26 3 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760301211 4 55019308 TG T 300 PASS FIP1L1 ENST00000507166 r.? - - Del intronic D 55019308 55019313 1 10 268.448 - - 4 1 1 FIP1L1|ENST00000507166|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FIP1L1|ENST00000507166|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 1 4 2 4 25 17 25 17 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760301299 4 55211634 TA T 360 PASS - - - - - Del - D 55211634 55211643 1 12 323.583 - - 8 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 1 6 3 34 31 34 31 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760301542 4 56165621 CA C 300 PASS - - - - - Del - D 56165621 56165631 1 12 269.652 - - 9 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 3 2 4 2 29 38 29 38 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760301900 4 57171580 AC A 420 PASS ENSG00000109265 CCDS43230.1 r.? - - Del intronic D 57171580 57171586 1 20 377.513 - - 5 1 1 ENSG00000109265|CCDS43230.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000109265|CCDS43230.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 4 4 5 27 25 27 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760301917 4 57203238 GT G 420 PASS AASDH CCDS3504.1 r.? - - Del downstream D 57203238 57203247 1 14 377.513 - - 8 1 1 AASDH|CCDS3504.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AASDH|CCDS3504.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 8 5 8 0 0 ./. 1 6 1 6 16 32 16 32 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760302065 4 57643634 CT C 420 PASS - - - - - Del - D 57643634 57643644 1 14 375.105 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 1 8 5 29 22 29 22 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760302213 4 57911037 CT C 420 PASS IGFBP7 CCDS3512.1 r.? - - Del intronic D 57911037 57911045 1 18 377.513 - - 7 1 1 IGFBP7|CCDS3512.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGFBP7|CCDS3512.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 5 2 8 21 20 21 20 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760302812 4 59716267 CT C 275 PASS - - - - - Del - D 59716267 59716276 1 15 319.971 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 2 4 2 22 11 22 11 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760303120 4 60818866 TA T 300 PASS - - - - - Del - D 60818866 60818874 1 10 269.652 - - 7 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 1 5 2 13 22 13 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760303165 4 60999356 TA T 300 PASS - - - - - Del - D 60999356 60999366 1 10 269.652 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 1 5 1 22 12 22 12 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760303199 4 61121487 TTA T 300 PASS - - - - - Del - D 61121487 61121491 2 12 269.652 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 2 4 4 17 22 17 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760303258 4 61281565 CT C 318 PASS - - - - - Del - D 61281565 61281573 1 24 431.444 - - 7 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 5 3 5 3 24 22 24 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760303454 4 61738351 GCT G 420 PASS - - - - - Del - D 61738351 61738361 2 20 377.513 - - 4 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 4 3 4 25 34 25 34 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760303519 4 61943182 CA C 360 PASS - - - - - Del - D 61943182 61943192 1 16 323.583 - - 9 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 3 3 5 29 21 29 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760303602 4 62190107 TA T 300 PASS LPHN3 ENST00000512091 r.? - - Del intronic D 62190107 62190117 1 10 269.652 - - 9 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 11 24 11 0 0 ./. 4 1 4 1 17 28 17 28 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760303661 4 62373346 T TG 360 PASS LPHN3 ENST00000512091 r.? - - Ins intronic I 62373346 62373355 1 15 319.971 - - 8 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 4 3 5 18 25 18 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760303985 4 63575513 TATAG T 269 PASS - - - - - Del - D 63575513 63575522 4 10 269.652 - - 2 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 1 4 5 4 19 28 19 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760304124 4 64131054 T TA 600 PASS - - - - - Ins - I 64131054 64131061 1 27 532.08 - - 6 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 8 2 8 28 32 28 32 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760304188 4 64385987 CA C 300 PASS - - - - - Del - D 64385987 64385995 1 12 269.05 - - 7 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 3 3 4 16 15 16 15 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760304381 4 65063020 GA G 360 PASS - - - - - Del - D 65063020 65063029 1 12 323.583 - - 8 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 5 1 7 8 30 8 30 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760304705 4 66086529 GA G 300 PASS - - - - - Del - D 66086529 66086538 1 10 269.652 - - 8 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 1 4 1 5 22 24 22 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760304766 4 66343007 AT A 300 PASS EPHA5 CCDS3513.1 r.? - - Del intronic D 66343007 66343015 1 12 269.652 - - 7 1 1 EPHA5|CCDS3513.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA5|CCDS3513.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 5 2 32 5 32 5 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760304821 4 66492449 AT A 300 PASS EPHA5 CCDS3513.1 r.? - - Del intronic D 66492449 66492457 1 10 269.652 - - 7 1 1 EPHA5|CCDS3513.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA5|CCDS3513.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 1 4 2 5 9 21 9 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760305247 4 67815859 GA G 480 PASS - - - - - Del - D 67815859 67815865 1 21 431.444 - - 5 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 6 2 6 4 33 29 33 29 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760305252 4 67845145 CA C 540 PASS - - - - - Del - D 67845145 67845151 1 24 485.374 - - 5 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 7 4 10 24 28 24 28 4 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760305430 4 68391281 TA T 480 PASS CENPC1 CCDS47063.1 r.? - - Del intronic D 68391281 68391290 1 24 430.842 - - 8 1 1 CENPC1|CCDS47063.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CENPC1|CCDS47063.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 24 15 24 0 0 ./. 3 5 4 5 27 32 27 32 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760305663 4 69187710 TA T 360 PASS YTHDC1 CCDS33992.1 r.? - - Del intronic D 69187710 69187717 1 16 323.583 - - 6 1 1 YTHDC1|CCDS33992.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 YTHDC1|CCDS33992.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 3 4 3 22 23 22 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760305801 4 69710554 C CT 300 PASS - - - - - Ins - I 69710554 69710557 1 10 266.04 - - 2 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 4 1 6 23 31 23 31 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760306123 4 70648292 CA C 420 PASS SULT1B1 ENST00000512870 r.? - - Del intronic D 70648292 70648301 1 18 373.299 - - 8 1 1 SULT1B1|ENST00000512870|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SULT1B1|ENST00000512870|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 5 2 5 3 34 23 34 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760306150 4 70780759 TA T 300 PASS - - - - - Del - D 70780759 70780767 1 12 269.652 - - 7 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 3 2 4 3 24 27 24 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760306297 4 71219692 C CA 360 PASS - - - - - Ins - I 71219692 71219701 1 12 312.746 - - 8 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 1 5 1 5 4 25 4 25 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760306562 4 71934454 A AT 300 PASS - - - - - Ins - I 71934454 71934462 1 12 266.642 - - 7 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 4 4 24 25 24 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760306615 4 72155801 GA G 360 PASS SLC4A4 CCDS47071.1 r.? - - Del intronic D 72155801 72155810 1 16 323.583 - - 8 1 1 SLC4A4|CCDS47071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC4A4|CCDS47071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 3 4 3 27 19 27 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760306667 4 72386555 CT C 300 PASS SLC4A4 CCDS3549.1 r.? - - Del intronic D 72386555 72386564 1 12 269.652 - - 8 1 1 SLC4A4|CCDS3549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC4A4|CCDS3549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 3 4 3 27 29 27 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760306732 4 72558132 C CA 540 PASS - - - - - Ins - I 72558132 72558141 1 18 477.548 - - 8 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 8 1 9 2 29 15 29 15 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760306813 4 72821085 C CA 540 PASS - - - - - Ins - I 72821085 72821092 1 28 476.344 - - 6 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 6 5 7 32 34 32 34 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760306892 4 73006613 CT C 300 PASS NPFFR2 CCDS3551.1 r.? - - Del intronic D 73006613 73006621 1 10 269.652 - - 7 1 1 NPFFR2|CCDS3551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPFFR2|CCDS3551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 1 6 1 28 18 28 18 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760306907 4 73130276 AT A 300 PASS - - - - - Del - D 73130276 73130283 1 10 269.652 - - 6 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 1 7 2 28 10 28 10 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760307012 4 73586676 GA G 480 PASS - - - - - Del - D 73586676 73586686 1 21 431.444 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 6 2 6 2 23 28 23 28 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760307131 4 73906242 CT C 300 PASS - - - - - Del - D 73906242 73906252 1 10 269.652 - - 9 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 1 4 1 5 7 24 7 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760307165 4 74055531 TA T 300 PASS ANKRD17 CCDS34004.1 r.? - - Del intronic D 74055531 74055541 1 12 269.652 - - 9 1 1 ANKRD17|CCDS34004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD17|CCDS34004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 2 4 22 20 22 20 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760307252 4 74433314 GTC G 540 PASS RASSF6 CCDS3559.1 r.? - - Del downstream D 74433314 74433330 2 30 482.966 - - 7 1 1 RASSF6|CCDS3559.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RASSF6|CCDS3559.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 9 5 9 0 0 ./. 4 5 4 5 24 34 24 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760307359 4 74894225 T TTG 300 PASS - - - - - Ins - I 74894225 74894241 2 6 263.632 - - 7 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 0 6 0 31 3 31 3 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760307523 4 75652184 CA C 300 PASS - - - - - Del - D 75652184 75652192 1 12 269.05 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 2 4 3 17 31 17 31 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760307690 4 76256051 CT C 269 PASS - - - - - Del - D 76256051 76256061 1 10 269.652 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 4 5 4 29 20 29 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760307718 4 76396663 AT A 360 PASS - - - - - Del - D 76396663 76396673 1 15 322.379 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 4 2 6 19 18 19 18 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760307819 4 76689165 CT C 269 PASS USO1 ENST00000264904 r.? - - Del intronic D 76689165 76689175 1 10 269.652 - - 9 1 1 USO1|ENST00000264904|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USO1|ENST00000264904|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 1 4 3 4 24 23 24 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760308223 4 77691265 TAGG T 416 PASS SHROOM3 CCDS3579.2 r.? - - Del intronic D 77691265 77691271 3 28 483.568 - - 1 1 1 SHROOM3|CCDS3579.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHROOM3|CCDS3579.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 6 4 7 19 33 19 33 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760308348 4 78005060 TG T 540 PASS - - - - - Del - D 78005060 78005067 1 28 478.15 - - 6 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 3 9 6 35 36 35 36 9 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760308529 4 78742191 ATC A 480 PASS CNOT6L CCDS47082.1 r.? - - Del upstream D 78742191 78742197 2 16 431.444 - - 2 1 1 CNOT6L|CCDS47082.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CNOT6L|CCDS47082.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 10 8 10 0 0 ./. 1 7 2 8 32 38 32 38 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760308645 4 79072392 CT C 300 PASS FRAS1 ENST00000264895 r.? - - Del intronic D 79072392 79072402 1 12 269.652 - - 9 1 1 FRAS1|ENST00000264895|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRAS1|ENST00000264895|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 2 3 2 3 27 17 27 17 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760309093 4 80593729 CA C 300 PASS - - - - - Del - D 80593729 80593738 1 12 269.652 - - 8 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 2 4 4 33 24 33 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760309099 4 80608611 AC A 420 PASS - - - - - Del - D 80608611 80608618 1 18 375.105 - - 6 1 1 - - ./. 0 0 0 0 19 3 19 3 0 0 ./. 2 5 2 5 21 25 21 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760309202 4 80868691 C CA 420 PASS ANTXR2 CCDS47085.1 r.? - - Ins intronic I 80868691 80868697 1 18 373.299 - - 5 1 1 ANTXR2|CCDS47085.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANTXR2|CCDS47085.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 5 2 7 20 24 20 25 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760309231 4 80934244 GA G 360 PASS ANTXR2 CCDS47085.1 r.? - - Del intronic D 80934244 80934253 1 15 323.583 - - 8 1 1 ANTXR2|CCDS47085.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANTXR2|CCDS47085.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 4 6 4 31 29 31 29 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760309345 4 81450387 GT G 360 PASS C4orf22 CCDS3587.1 r.? - - Del intronic D 81450387 81450397 1 12 323.583 - - 9 1 1 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 5 1 9 12 28 12 28 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760309388 4 81727700 TACAA T 360 PASS C4orf22 CCDS3587.1 r.? - - Del intronic D 81727700 81727711 4 15 322.981 - - 2 1 1 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 4 2 7 24 19 24 19 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760309397 4 81815386 TA T 300 PASS C4orf22 CCDS3587.1 r.? - - Del intronic D 81815386 81815396 1 12 269.05 - - 9 1 1 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 4 3 23 20 23 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760309473 4 82097551 TA T 360 PASS PRKG2 CCDS3589.1 r.? - - Del intronic D 82097551 82097561 1 16 322.379 - - 9 1 1 PRKG2|CCDS3589.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKG2|CCDS3589.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 3 4 4 26 14 26 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760309515 4 82234849 GT G 300 PASS - - - - - Del - D 82234849 82234854 1 10 269.652 - - 4 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 4 1 6 1 30 25 30 25 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760309727 4 82970192 CT C 360 PASS - - - - - Del - D 82970192 82970200 1 12 323.583 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 1 7 2 24 10 24 10 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760310057 4 83829529 CA C 300 PASS THAP9 CCDS3598.1 r.? - - Del intronic D 83829529 83829537 1 6 269.652 - - 7 1 1 THAP9|CCDS3598.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THAP9|CCDS3598.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 0 5 0 5 17 18 17 18 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760310068 4 83857751 TA T 300 PASS LIN54 CCDS3599.1 r.? - - Del intronic D 83857751 83857757 1 6 269.652 - - 5 1 1 LIN54|CCDS3599.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIN54|CCDS3599.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 0 5 0 5 0 18 0 18 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760310208 4 84096301 GT G 420 PASS - - - - - Del - D 84096301 84096310 1 18 375.105 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 2 6 2 26 20 26 20 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760310316 4 84395710 CA C 480 PASS FAM175A CCDS3605.2 r.? - - Del intronic D 84395710 84395719 1 21 431.444 - - 8 1 1 FAM175A|CCDS3605.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM175A|CCDS3605.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 6 2 7 3 29 14 29 14 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760310474 4 84862101 GT G 420 PASS - - - - - Del - D 84862101 84862110 1 20 377.513 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 4 3 4 17 21 17 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760310599 4 85413005 GA G 300 PASS NKX6-1 CCDS3607.1 r.? - - Del downstream D 85413005 85413015 1 6 269.652 - - 9 1 1 NKX6-1|CCDS3607.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 NKX6-1|CCDS3607.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 4 13 4 13 0 0 ./. 0 5 1 5 6 15 6 15 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760310665 4 85645298 T TA 300 PASS WDFY3 CCDS3609.1 r.? - - Ins intronic I 85645298 85645306 1 10 266.642 - - 7 1 1 WDFY3|CCDS3609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDFY3|CCDS3609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 12 0 0 ./. 4 1 6 1 31 9 31 9 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760311057 4 87088056 CA C 300 PASS MAPK10 CCDS3612.1 r.? - - Del intronic D 87088056 87088066 1 10 269.652 - - 9 1 1 MAPK10|CCDS3612.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAPK10|CCDS3612.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 1 4 2 4 19 25 19 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760311130 4 87343278 A AT 360 PASS MAPK10 CCDS43247.1 r.? - - Ins intronic I 87343278 87343287 1 15 318.164 - - 8 1 1 MAPK10|CCDS43247.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MAPK10|CCDS43247.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 11 13 0 0 ./. 2 4 4 6 25 24 25 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760311187 4 87677479 TA T 420 PASS PTPN13 CCDS47093.1 r.? - - Del intronic D 87677479 87677486 1 20 377.513 - - 6 1 1 PTPN13|CCDS47093.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN13|CCDS47093.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 4 3 5 13 22 13 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760311308 4 87964163 G GA 389 PASS AFF1 CCDS3616.1 r.? - - Ins intronic I 87964163 87964168 1 20 369.085 - - 4 1 1 AFF1|CCDS3616.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AFF1|CCDS3616.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 4 3 4 21 21 21 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760311468 4 88427442 TG T 420 PASS SPARCL1 CCDS3622.1 r.? - - Del intronic D 88427442 88427447 1 18 377.513 - - 4 1 1 SPARCL1|CCDS3622.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SPARCL1|CCDS3622.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 2 5 2 32 25 32 25 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760311642 4 88896584 CT C 360 PASS SPP1 CCDS3626.1 r.? - - Del upstream D 88896584 88896590 1 15 323.583 - - 5 1 1 SPP1|CCDS3626.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SPP1|CCDS3626.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 4 2 20 7 20 7 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760311785 4 89281309 AT A 341 PASS - - - - - Del - D 89281309 89281317 1 18 375.105 - - 7 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 5 2 5 2 28 27 28 27 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760312208 4 91149907 C CA 377 PASS FAM190A ENST00000509176 r.? - - Ins intronic I 91149907 91149910 1 25 424.821 - - 2 1 1 FAM190A|ENST00000509176|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FAM190A|ENST00000509176|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 4 4 4 30 33 31 34 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760312223 4 91363236 GT G 480 PASS FAM190A CCDS47100.1 r.? - - Del intronic D 91363236 91363246 1 25 430.842 - - 9 1 1 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 4 7 5 26 28 26 28 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760312298 4 91685390 TA T 420 PASS FAM190A CCDS47100.1 r.? - - Del intronic D 91685390 91685399 1 20 377.513 - - 8 1 1 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 20 11 20 0 0 ./. 4 3 4 3 14 16 14 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760312329 4 91765837 CT C 540 PASS FAM190A CCDS47099.1 r.? - - Del intronic D 91765837 91765847 1 30 485.374 - - 9 1 1 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 4 6 4 26 21 26 21 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760312390 4 92002253 CA C 384 PASS FAM190A CCDS47099.1 r.? - - Del intronic D 92002253 92002261 1 16 431.444 - - 7 1 1 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 1 7 1 8 22 30 22 30 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760312509 4 92396163 CT C 300 PASS FAM190A CCDS47099.1 r.? - - Del intronic D 92396163 92396171 1 12 269.652 - - 7 1 1 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 4 3 19 3 19 3 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760312669 4 93393986 CTG C 540 PASS GRID2 CCDS3637.1 r.? - - Del intronic D 93393986 93393990 2 28 485.374 - - 1 1 1 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 6 4 6 26 26 26 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760312842 4 94583619 CT C 420 PASS GRID2 CCDS3637.1 r.? - - Del intronic D 94583619 94583628 1 20 377.513 - - 8 1 1 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 4 5 28 24 28 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760312923 4 94944372 TA T 300 PASS - - - - - Del - D 94944372 94944379 1 12 269.652 - - 6 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 2 3 3 24 7 24 7 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313088 4 95559749 GT G 360 PASS PDLIM5 CCDS3641.1 r.? - - Del intronic D 95559749 95559755 1 16 323.583 - - 5 1 - PDLIM5|CCDS3641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDLIM5|CCDS3641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 3 3 3 8 9 8 9 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313296 4 96186440 CA C 300 PASS UNC5C CCDS3643.1 r.? - - Del intronic D 96186440 96186449 1 10 269.652 - - 8 1 1 UNC5C|CCDS3643.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC5C|CCDS3643.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 1 4 2 5 12 27 12 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313559 4 97154368 C CAG 300 PASS - - - - - Ins - I 97154368 97154378 2 12 263.632 - - 4 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 3 4 21 17 21 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313561 4 97159783 CT C 420 PASS - - - - - Del - D 97159783 97159792 1 20 377.513 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 3 4 4 17 21 17 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313615 4 97444831 GT G 300 PASS - - - - - Del - D 97444831 97444841 1 10 269.652 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 1 5 1 24 16 24 16 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313704 4 97836793 CA C 360 PASS - - - - - Del - D 97836793 97836803 1 16 323.583 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 3 3 3 16 18 16 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313760 4 98506657 TA T 360 PASS C4orf37 CCDS3645.1 r.? - - Del intronic D 98506657 98506666 1 12 323.583 - - 8 1 1 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 1 6 4 20 19 20 19 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313809 4 98752714 CA C 300 PASS C4orf37 CCDS3645.1 r.? - - Del intronic D 98752714 98752721 1 10 269.652 - - 6 1 1 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 1 4 4 5 32 26 32 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313860 4 99049890 G GT 300 PASS C4orf37 CCDS3645.1 r.? - - Ins intronic I 99049890 99049899 1 6 266.642 - - 8 1 1 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 0 5 0 14 20 14 20 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313867 4 99089716 GA G 300 PASS - - - - - Del - D 99089716 99089726 1 10 269.652 - - 9 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 1 7 3 21 27 21 27 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313881 4 99211443 CAT C 389 PASS RAP1GDS1 CCDS43253.1 r.? - - Del intronic D 99211443 99211447 2 20 377.513 - - 1 1 1 RAP1GDS1|CCDS43253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAP1GDS1|CCDS43253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 4 3 6 15 25 15 25 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760313900 4 99347890 CA C 411 PASS RAP1GDS1 CCDS43253.1 r.? - - Del intronic D 99347890 99347899 1 25 431.444 - - 8 1 1 RAP1GDS1|CCDS43253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAP1GDS1|CCDS43253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 4 4 4 5 23 30 23 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760314255 4 100246411 CAG C 300 PASS ADH1B CCDS34033.1 r.? - - Del upstream D 100246411 100246417 2 10 269.652 - - 2 1 1 ADH1B|CCDS34033.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ADH1B|CCDS34033.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 1 4 1 11 11 11 11 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760314272 4 100275078 GC G 652 PASS - - - - - Del - D 100275078 100275087 1 42 592.031 - - 8 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 6 5 7 30 29 30 29 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760314803 4 102606966 TG T 420 PASS BANK1 ENST00000504592 r.? - - Del intronic D 102606966 102606973 1 8 377.513 - - 6 1 1 BANK1|ENST00000504592|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BANK1|ENST00000504592|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 3 11 3 0 0 ./. 7 0 7 0 27 1 27 1 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760314881 4 102892555 TA T 420 PASS BANK1 CCDS34038.1 r.? - - Del intronic D 102892555 102892562 1 14 377.513 - - 6 1 1 BANK1|CCDS34038.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BANK1|CCDS34038.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 6 1 6 1 34 16 34 16 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760315031 4 103524237 AT A 360 PASS NFKB1 CCDS3657.1 r.? - - Del intronic D 103524237 103524247 1 15 323.583 - - 9 1 1 NFKB1|CCDS3657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFKB1|CCDS3657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 2 5 2 34 19 34 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760315093 4 103715831 A AAAC 300 PASS UBE2D3 CCDS3660.1 r.3698_3699insguu c.? p.? Ins 3'UTR variant I 103715831 103715834 3 12 255.203 - - 0 1 1 UBE2D3|CCDS3660.1|r.3698_3699insguu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 UBE2D3|CCDS3660.1|r.3698_3699insguu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 2 0 0 22 25 23 25 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760315107 4 103732845 A AC 389 PASS UBE2D3 CCDS3660.1 r.? - - Ins intronic I 103732845 103732850 1 20 367.278 - - 4 1 1 UBE2D3|CCDS3660.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UBE2D3|CCDS3660.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 4 4 5 29 26 29 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760315224 4 104281601 AC A 300 PASS - - - - - Del - D 104281601 104281607 1 12 268.448 - - 5 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 3 6 22 30 22 30 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760315278 4 104466226 CT C 300 PASS - - - - - Del - D 104466226 104466235 1 12 269.652 - - 8 1 1 - - ./. 0 0 0 0 16 6 16 6 0 0 ./. 2 3 2 5 18 16 18 16 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760315309 4 104661464 AT A 360 PASS - - - - - Del - D 104661464 104661470 1 15 319.971 - - 5 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 4 2 4 5 14 5 14 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760315362 4 104904986 A AT 480 PASS - - - - - Ins - I 104904986 104904990 1 24 426.627 - - 3 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 3 7 4 20 28 21 28 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760315439 4 105379079 AT A 420 PASS - - - - - Del - D 105379079 105379089 1 14 377.513 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 1 6 4 34 18 34 18 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760315479 4 105521255 A AT 300 PASS - - - - - Ins - I 105521255 105521264 1 12 266.642 - - 8 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 2 4 2 23 27 25 27 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760315808 4 106919000 C CA 291 PASS NPNT ENST00000505917 r.? - - Ins intronic I 106919000 106919010 1 15 308.531 - - 9 1 1 NPNT|ENST00000505917|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NPNT|ENST00000505917|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 4 2 4 17 25 17 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760315862 4 107312323 A AT 300 PASS - - - - - Ins - I 107312323 107312331 1 6 266.642 - - 7 1 1 - - ./. 0 0 0 0 7 11 8 11 0 0 ./. 0 5 1 8 20 42 20 43 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760316204 4 108695093 GA G 420 PASS - - - - - Del - D 108695093 108695101 1 18 372.095 - - 7 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 2 7 4 32 24 32 24 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760316248 4 108820038 CT C 360 PASS SGMS2 CCDS3677.1 r.? - - Del intronic D 108820038 108820046 1 12 322.379 - - 7 1 1 SGMS2|CCDS3677.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGMS2|CCDS3677.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 5 1 6 2 28 17 28 17 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760316254 4 108840843 CA C 300 PASS SGMS2 CCDS3677.1 r.? - - Del downstream D 108840843 108840853 1 6 269.652 - - 9 1 1 SGMS2|CCDS3677.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SGMS2|CCDS3677.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 0 7 3 23 24 23 24 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760316329 4 109112174 AT A 300 PASS - - - - - Del - D 109112174 109112184 1 12 267.846 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 2 3 4 22 28 22 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760316395 4 109442928 G GT 480 PASS - - - - - Ins - I 109442928 109442938 1 24 424.821 - - 9 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 3 5 3 14 9 14 9 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760316504 4 109670871 AT A 300 PASS AGXT2L1 CCDS3682.1 r.? - - Del intronic D 109670871 109670881 1 12 269.652 - - 9 1 1 AGXT2L1|CCDS3682.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGXT2L1|CCDS3682.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 2 3 3 5 24 18 24 18 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760316799 4 110708020 G GC 360 PASS CFI CCDS34049.1 r.? - - Ins intronic I 110708020 110708025 1 15 319.971 - - 4 1 1 CFI|CCDS34049.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CFI|CCDS34049.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 4 3 4 26 29 26 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760316893 4 110996548 TA T 300 PASS ELOVL6 CCDS3690.1 r.? - - Del intronic D 110996548 110996557 1 10 269.652 - - 8 1 1 ELOVL6|CCDS3690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELOVL6|CCDS3690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 1 4 1 7 20 18 20 18 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760316944 4 111125491 CT C 360 PASS - - - - - Del - D 111125491 111125501 1 7 321.777 - - 9 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 6 0 7 0 26 1 26 1 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760317027 4 111232062 CA C 300 PASS - - - - - Del - D 111232062 111232072 1 12 269.652 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 2 3 27 20 27 20 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760317185 4 111836592 G GA 360 PASS - - - - - Ins - I 111836592 111836595 1 16 319.971 - - 2 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 3 3 8 18 31 18 31 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760317601 4 113593583 CA C 300 PASS - - - - - Del - D 113593583 113593592 1 10 266.642 - - 8 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 1 8 1 32 4 32 4 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760317730 4 113966063 G GA 300 PASS ANK2 CCDS3702.1 r.? - - Ins upstream I 113966063 113966073 1 12 263.632 - - 9 1 1 ANK2|CCDS3702.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ANK2|ENST00000506722|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 15 0 0 ./. 3 2 3 4 17 33 17 33 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760317765 4 114086168 CT C 300 PASS ANK2 CCDS3702.1 r.? - - Del intronic D 114086168 114086178 1 12 269.652 - - 9 1 1 ANK2|CCDS3702.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANK2|CCDS3702.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 2 3 13 16 13 16 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760317766 4 114097622 A AT 300 PASS ANK2 CCDS3702.1 r.? - - Ins intronic I 114097622 114097632 1 6 266.642 - - 9 1 1 ANK2|CCDS3702.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANK2|CCDS3702.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 15 0 0 ./. 0 5 0 7 0 30 0 31 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760318158 4 115388126 GAA G 389 PASS - - - - - Del - D 115388126 115388132 2 18 375.707 - - 5 1 1 - - ./. 0 0 0 0 10 9 13 11 0 0 ./. 5 2 5 2 21 18 21 18 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760318196 4 115442841 CT C 269 PASS - - - - - Del - D 115442841 115442849 1 12 269.652 - - 7 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 2 3 3 19 26 19 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760318252 4 115663051 TA T 300 PASS - - - - - Del - D 115663051 115663060 1 10 269.652 - - 8 1 1 - - ./. 0 0 0 0 6 19 6 19 0 0 ./. 1 4 2 5 13 24 13 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760318289 4 115763001 GT G 360 PASS NDST4 CCDS3706.1 r.? - - Del intronic D 115763001 115763010 1 7 323.583 - - 8 1 1 NDST4|CCDS3706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NDST4|CCDS3706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 0 6 1 6 11 33 11 33 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760318297 4 115802515 GA G 300 PASS NDST4 CCDS3706.1 r.? - - Del intronic D 115802515 115802523 1 12 269.652 - - 7 1 1 NDST4|CCDS3706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NDST4|CCDS3706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 2 4 3 16 17 16 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760318610 4 117088273 GA G 360 PASS - - - - - Del - D 117088273 117088278 1 15 322.981 - - 4 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 4 2 4 20 25 20 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760318665 4 117338475 A AT 300 PASS - - - - - Ins - I 117338475 117338485 1 10 266.642 - - 9 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 1 4 4 4 30 35 30 35 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760318862 4 117992147 AT A 360 PASS - - - - - Del - D 117992147 117992157 1 7 322.981 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 0 6 0 6 3 27 3 27 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760318968 4 118445725 T TA 300 PASS - - - - - Ins - I 118445725 118445731 1 12 264.836 - - 5 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 6 4 28 16 28 16 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760318975 4 118480103 C CA 540 PASS - - - - - Ins - I 118480103 118480113 1 30 475.139 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 4 5 4 33 32 33 32 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319076 4 118751985 TA T 300 PASS - - - - - Del - D 118751985 118751995 1 12 269.652 - - 9 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 3 2 3 2 29 27 29 27 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319111 4 118865150 TG T 540 PASS - - - - - Del - D 118865150 118865159 1 30 485.374 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 4 5 7 27 24 27 24 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319133 4 118976349 CA C 540 PASS NDST3 CCDS3708.1 r.? - - Del intronic D 118976349 118976358 1 30 485.374 - - 8 1 1 NDST3|CCDS3708.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NDST3|CCDS3708.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 5 6 5 23 33 23 33 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319201 4 119187024 TC T 413 PASS - - - - - Del - D 119187024 119187029 1 14 375.707 - - 4 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 6 1 7 4 37 24 37 24 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319269 4 119434644 AT A 273 PASS - - - - - Del - D 119434644 119434653 1 15 323.583 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 2 5 3 24 13 24 13 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319533 4 120271335 C CT 360 PASS - - - - - Ins - I 120271335 120271344 1 12 319.971 - - 8 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 5 1 5 2 18 20 19 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319547 4 120300718 CT C 370 PASS - - - - - Del - D 120300718 120300727 1 21 431.444 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 2 7 3 14 31 14 31 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319589 4 120483778 TA T 360 PASS PDE5A CCDS3713.1 r.? - - Del intronic D 120483778 120483786 1 15 323.583 - - 7 1 1 PDE5A|CCDS3713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE5A|CCDS3713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 4 2 6 22 31 22 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319595 4 120501359 ATC A 492 PASS PDE5A CCDS3713.1 r.? - - Del intronic D 120501359 120501362 2 28 481.762 - - 1 1 1 PDE5A|CCDS3713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE5A|CCDS3713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 3 6 3 31 14 31 14 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319709 4 120866579 CT C 300 PASS - - - - - Del - D 120866579 120866589 1 6 269.652 - - 9 1 1 - - ./. 0 0 0 0 21 11 21 11 0 0 ./. 0 5 3 5 19 28 19 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319792 4 121120384 A AG 600 PASS - - - - - Ins - I 121120384 121120385 1 32 532.682 - - 0 1 1 - - ./. 0 0 0 0 10 12 10 13 0 0 ./. 3 7 3 7 30 29 30 30 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319800 4 121151534 CT C 300 PASS - - - - - Del - D 121151534 121151544 1 12 269.05 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 3 3 7 16 7 16 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760319831 4 121253663 CA C 360 PASS - - - - - Del - D 121253663 121253672 1 12 323.583 - - 8 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 1 5 2 7 9 32 9 32 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760320240 4 122488922 GA G 456 PASS - - - - - Del - D 122488922 122488930 1 24 430.24 - - 7 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 3 6 3 24 16 24 16 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760320312 4 122718981 C CT 360 PASS EXOSC9 CCDS34057.1 r.? - - Ins upstream I 122718981 122718990 1 12 319.368 - - 8 1 1 EXOSC9|CCDS34057.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 EXOSC9|CCDS34057.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 21 12 21 12 0 0 ./. 5 1 7 3 36 17 36 17 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760320429 4 123043340 TG T 360 PASS - - - - - Del - D 123043340 123043347 1 7 323.583 - - 6 1 1 - - ./. 0 0 0 0 21 7 21 7 0 0 ./. 0 6 1 9 23 26 23 26 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760320462 4 123168297 CT C 389 PASS KIAA1109 CCDS43267.1 r.? - - Del intronic D 123168297 123168306 1 8 369.085 - - 8 1 1 KIAA1109|CCDS43267.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1109|CCDS43267.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 7 0 6 0 22 3 23 3 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760320654 4 123949825 C CT 420 PASS SPATA5 CCDS3730.1 r.? - - Ins intronic I 123949825 123949835 1 14 367.88 - - 9 1 1 SPATA5|CCDS3730.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPATA5|CCDS3730.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 1 6 1 6 15 29 15 29 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760320684 4 124015369 A AT 300 PASS SPATA5 CCDS3730.1 r.? - - Ins intronic I 124015369 124015377 1 10 266.642 - - 7 1 1 SPATA5|CCDS3730.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPATA5|CCDS3730.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 1 4 1 5 15 23 15 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760320689 4 124027221 CT C 360 PASS SPATA5 CCDS3730.1 r.? - - Del intronic D 124027221 124027231 1 12 323.583 - - 9 1 1 SPATA5|CCDS3730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPATA5|CCDS3730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 1 5 1 9 10 33 10 33 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760320774 4 124252673 A AT 483 PASS - - - - - Ins - I 124252673 124252682 1 36 533.284 - - 8 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 5 6 8 32 36 32 36 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760320851 4 124438715 GT G 600 PASS - - - - - Del - D 124438715 124438724 1 35 539.305 - - 8 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 6 4 7 4 31 33 31 33 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760321035 4 124959957 T TA 360 PASS - - - - - Ins - I 124959957 124959967 1 7 319.368 - - 9 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 6 0 6 0 23 7 23 7 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760321300 4 126022894 CA C 360 PASS - - - - - Del - D 126022894 126022903 1 15 322.981 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 4 2 4 29 22 29 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760321417 4 126476277 GT G 300 PASS - - - - - Del - D 126476277 126476285 1 10 269.05 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 1 7 2 34 13 34 13 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760321454 4 126624389 TGAGA T 600 PASS - - - - - Del - D 126624389 126624407 4 27 538.101 - - 8 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 8 2 11 5 35 27 35 27 11 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760321569 4 126941036 G GT 420 PASS - - - - - Ins - I 126941036 126941044 1 20 372.697 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 3 6 3 27 16 27 16 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760321744 4 127629650 TA T 300 PASS - - - - - Del - D 127629650 127629659 1 10 269.652 - - 8 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 1 5 1 21 4 21 4 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760321854 4 127958139 AC A 480 PASS - - - - - Del - D 127958139 127958145 1 24 431.444 - - 5 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 3 7 6 25 35 25 35 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760321860 4 127970382 AG A 660 PASS - - - - - Del - D 127970382 127970384 1 30 592.633 - - 1 1 1 - - ./. 0 0 0 0 17 5 17 5 0 0 ./. 2 9 3 9 29 37 29 37 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760321892 4 128065805 CA C 420 PASS - - - - - Del - D 128065805 128065814 1 20 377.513 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 3 4 4 24 19 24 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760321981 4 128430234 GT G 360 PASS - - - - - Del - D 128430234 128430244 1 16 322.981 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 3 4 5 21 33 21 33 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322052 4 128746127 TA T 300 PASS HSPA4L CCDS3734.1 r.? - - Del intronic D 128746127 128746137 1 12 269.652 - - 9 1 1 HSPA4L|CCDS3734.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HSPA4L|CCDS3734.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 2 4 2 30 20 30 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322074 4 128806250 TA T 348 PASS PLK4 CCDS3735.1 r.? - - Del intronic D 128806250 128806260 1 15 323.583 - - 9 1 1 PLK4|CCDS3735.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLK4|CCDS3735.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 4 7 5 27 27 27 27 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322101 4 128938009 CT C 660 PASS C4orf29 CCDS47131.1 r.? - - Del intronic D 128938009 128938018 1 30 593.235 - - 8 1 1 C4orf29|CCDS47131.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf29|CCDS47131.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 2 9 4 12 27 28 27 28 4 12 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322106 4 128945363 A ATG 300 PASS C4orf29 CCDS47131.1 r.? - - Ins intronic I 128945363 128945376 2 12 260.622 - - 6 1 1 C4orf29|CCDS47131.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C4orf29|CCDS47131.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 2 3 2 4 26 31 27 32 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322190 4 129156429 CT C 449 PASS - - - - - Del - D 129156429 129156438 1 24 430.24 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 5 5 6 27 26 27 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322205 4 129207741 GA G 420 PASS PGRMC2 CCDS3739.1 r.? - - Del intronic D 129207741 129207751 1 18 375.105 - - 9 1 1 PGRMC2|CCDS3739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PGRMC2|CCDS3739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 5 2 5 22 14 22 14 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322318 4 129577561 TAA T 300 PASS - - - - - Del - D 129577561 129577569 2 12 269.652 - - 7 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 3 4 3 31 16 31 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322434 4 129899331 CT C 420 PASS SCLT1 CCDS3740.1 r.? - - Del intronic D 129899331 129899339 1 14 377.513 - - 7 1 1 SCLT1|CCDS3740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCLT1|CCDS3740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 6 1 9 1 35 13 35 13 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322438 4 129928306 CT C 420 PASS SCLT1 CCDS3740.1 r.? - - Del intronic D 129928306 129928316 1 20 377.513 - - 9 1 1 SCLT1|CCDS3740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCLT1|CCDS3740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 5 15 5 0 0 ./. 4 3 5 5 25 23 25 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322484 4 130073254 AT A 420 PASS - - - - - Del - D 130073254 130073263 1 18 377.513 - - 8 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 5 2 5 24 16 24 16 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322504 4 130165049 AT A 300 PASS - - - - - Del - D 130165049 130165059 1 12 269.652 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 2 5 11 22 11 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322539 4 130268343 GA G 300 PASS - - - - - Del - D 130268343 130268353 1 10 269.652 - - 9 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 4 1 5 1 32 25 32 25 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322580 4 130447445 CG C 300 PASS - - - - - Del - D 130447445 130447450 1 10 269.652 - - 4 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 4 2 32 20 32 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322648 4 130746308 TA T 360 PASS - - - - - Del - D 130746308 130746317 1 7 323.583 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 0 6 2 6 6 19 6 19 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322760 4 131167263 AG A 420 PASS - - - - - Del - D 131167263 131167270 1 20 377.513 - - 6 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 3 6 4 26 32 26 32 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760322930 4 131787165 GT G 360 PASS - - - - - Del - D 131787165 131787174 1 12 323.583 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 5 2 5 17 36 17 36 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760323005 4 132112322 CA C 300 PASS - - - - - Del - D 132112322 132112332 1 12 269.05 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 3 2 24 7 24 7 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760323020 4 132195458 GA G 360 PASS - - - - - Del - D 132195458 132195467 1 16 323.583 - - 8 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 6 4 27 37 27 37 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760323073 4 132410577 AT A 329 PASS - - - - - Del - D 132410577 132410584 1 16 322.379 - - 6 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 3 5 5 26 28 26 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760323099 4 132488303 C CT 660 PASS - - - - - Ins - I 132488303 132488312 1 40 586.613 - - 8 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 7 5 7 29 32 29 32 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760323104 4 132500131 CA C 500 PASS - - - - - Del - D 132500131 132500136 1 24 485.374 - - 4 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 7 2 7 3 36 17 36 17 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760323234 4 132750873 TAAG T 424 PASS - - - - - Del - D 132750873 132750881 3 32 539.305 - - 2 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 7 3 8 3 19 19 19 19 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760323279 4 132965275 CT C 360 PASS - - - - - Del - D 132965275 132965284 1 16 323.583 - - 8 1 1 - - ./. 0 0 0 0 8 20 8 20 0 0 ./. 3 3 4 5 12 28 12 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760323524 4 133644359 GT G 420 PASS - - - - - Del - D 133644359 133644368 1 8 377.513 - - 8 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 0 7 0 7 4 25 4 25 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760323663 4 134218320 AT A 300 PASS - - - - - Del - D 134218320 134218330 1 12 268.448 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 3 3 20 28 20 28 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760323672 4 134320573 AT A 360 PASS - - - - - Del - D 134320573 134320580 1 12 323.583 - - 6 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 1 7 2 20 30 20 30 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760323702 4 134494857 CT C 300 PASS - - - - - Del - D 134494857 134494867 1 10 269.05 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 1 4 1 33 16 33 16 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760324064 4 135940303 GC G 294 PASS - - - - - Del - D 135940303 135940306 1 12 267.846 - - 2 1 1 - - ./. 0 0 0 0 13 3 13 3 0 0 ./. 3 2 6 6 26 22 26 22 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760324283 4 136772646 CT C 300 PASS - - - - - Del - D 136772646 136772654 1 12 269.652 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 4 2 23 8 23 8 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760324392 4 137231236 CT C 300 PASS - - - - - Del - D 137231236 137231245 1 12 269.652 - - 8 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 4 3 10 19 10 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760324449 4 137445251 CT C 420 PASS - - - - - Del - D 137445251 137445256 1 8 377.513 - - 4 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 7 0 9 2 26 33 26 33 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760324638 4 138117043 G GT 300 PASS - - - - - Ins - I 138117043 138117050 1 10 266.642 - - 6 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 1 4 1 12 26 12 26 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760324639 4 138117385 AT A 300 PASS - - - - - Del - D 138117385 138117393 1 12 268.448 - - 7 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 3 4 3 29 14 29 14 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760324667 4 138221950 CT C 300 PASS - - - - - Del - D 138221950 138221960 1 12 267.244 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 2 4 2 28 24 28 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760324899 4 138981775 CT C 420 PASS - - - - - Del - D 138981775 138981784 1 20 377.513 - - 8 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 4 6 4 28 28 28 28 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760324910 4 139062586 TA T 360 PASS - - - - - Del - D 139062586 139062596 1 15 322.981 - - 9 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 2 4 3 5 29 26 29 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760324950 4 139235360 G GA 300 PASS - - - - - Ins - I 139235360 139235369 1 10 266.642 - - 8 1 1 - - ./. 0 0 0 0 14 16 15 16 0 0 ./. 4 1 6 4 33 26 33 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760325074 4 139602308 CCA C 420 PASS - - - - - Del - D 139602308 139602313 2 18 377.513 - - 2 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 2 5 4 19 30 19 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760325267 4 140092627 C CA 720 PASS ELF2 CCDS3744.1 r.? - - Ins intronic I 140092627 140092637 1 48 637.533 - - 9 1 1 ELF2|CCDS3744.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ELF2|CCDS3744.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 7 5 9 6 32 26 32 26 9 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760325307 4 140213493 AT A 360 PASS NDUFC1 CCDS3746.1 r.? - - Del intronic D 140213493 140213495 1 16 322.379 - - 1 1 1 NDUFC1|CCDS3746.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 NDUFC1|CCDS3746.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 3 3 3 4 21 24 21 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760325381 4 140452134 T TG 300 PASS SETD7 CCDS3748.1 r.? - - Ins intronic I 140452134 140452139 1 10 266.642 - - 4 1 1 SETD7|CCDS3748.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SETD7|CCDS3748.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 1 5 1 29 11 29 11 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760325432 4 140589796 GGA G 420 PASS MGST2 CCDS3749.1 r.? - - Del intronic D 140589796 140589810 2 18 362.462 - - 6 1 1 MGST2|CCDS3749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MGST2|CCDS3749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 2 8 6 19 19 19 19 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760325526 4 140901535 AT A 360 PASS MAML3 CCDS43266.1 r.? - - Del intronic D 140901535 140901542 1 15 322.981 - - 6 1 1 MAML3|CCDS43266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAML3|CCDS43266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 2 5 2 24 14 24 14 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760325736 4 141591052 AT A 420 PASS TBC1D9 CCDS47136.1 r.? - - Del intronic D 141591052 141591060 1 18 377.513 - - 7 1 1 TBC1D9|CCDS47136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D9|CCDS47136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 2 8 4 29 23 29 23 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760325954 4 142261189 GA G 360 PASS - - - - - Del - D 142261189 142261192 1 16 323.583 - - 2 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 7 5 45 30 45 30 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760325959 4 142281323 CT C 300 PASS - - - - - Del - D 142281323 142281333 1 12 269.05 - - 9 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 3 5 22 29 22 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326038 4 142778321 AC A 360 PASS - - - - - Del - D 142778321 142778327 1 15 323.583 - - 5 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 2 4 4 5 29 27 29 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326126 4 143070700 G GA 300 PASS INPP4B CCDS47112.1 r.? - - Ins intronic I 143070700 143070710 1 12 266.04 - - 9 1 - INPP4B|CCDS47112.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 INPP4B|CCDS47112.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 2 3 2 6 25 31 26 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326141 4 143116610 CA C 360 PASS INPP4B CCDS47112.1 r.? - - Del intronic D 143116610 143116618 1 15 323.583 - - 7 1 1 INPP4B|CCDS47112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INPP4B|CCDS47112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 4 4 4 29 23 29 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326339 4 144073274 AT A 360 PASS - - - - - Del - D 144073274 144073282 1 12 322.981 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 5 1 5 8 29 8 29 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326478 4 144549037 A AT 360 PASS FREM3 ENST00000329798 r.? - - Ins intronic I 144549037 144549045 1 15 319.971 - - 7 1 1 FREM3|ENST00000329798|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FREM3|ENST00000329798|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 13 21 13 0 0 ./. 4 2 4 3 21 23 22 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326482 4 144564063 CA C 420 PASS FREM3 ENST00000329798 r.? - - Del intronic D 144564063 144564071 1 14 376.911 - - 7 1 1 FREM3|ENST00000329798|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FREM3|ENST00000329798|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 1 7 3 26 25 26 25 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326582 4 144959280 CA C 629 PASS GYPB ENST00000283126 r.? - - Del intronic D 144959280 144959290 1 40 592.633 - - 9 1 1 GYPB|ENST00000283126|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GYPB|ENST00000283126|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 7 7 8 26 24 26 24 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326681 4 145358407 TA T 540 PASS - - - - - Del - D 145358407 145358417 1 30 485.374 - - 9 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 5 4 6 8 22 31 22 31 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326690 4 145427040 AT A 300 PASS - - - - - Del - D 145427040 145427047 1 10 269.05 - - 6 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 1 4 1 4 30 25 30 25 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326691 4 145431073 TGC T 300 PASS - - - - - Del - D 145431073 145431084 2 10 269.652 - - 5 1 - - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 1 6 3 28 25 28 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326738 4 145612040 AT A 360 PASS HHIP CCDS3762.1 r.? - - Del intronic D 145612040 145612050 1 12 323.583 - - 9 1 1 HHIP|CCDS3762.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HHIP|CCDS3762.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 1 6 1 23 26 23 26 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760326874 4 146194132 GT G 360 PASS - - - - - Del - D 146194132 146194141 1 12 323.583 - - 8 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 1 6 2 30 13 30 13 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327035 4 146849276 GA G 540 PASS ZNF827 CCDS34072.1 r.? - - Del intronic D 146849276 146849283 1 24 483.568 - - 6 1 1 ZNF827|CCDS34072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF827|CCDS34072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 7 4 8 26 36 26 36 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327063 4 146961759 TC T 420 PASS - - - - - Del - D 146961759 146961766 1 14 377.513 - - 6 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 1 8 2 34 20 34 20 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327068 4 146991684 GT G 300 PASS - - - - - Del - D 146991684 146991693 1 6 269.652 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 0 5 1 5 2 14 2 14 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327160 4 147457525 G GTA 300 PASS - - - - - Ins - I 147457525 147457535 2 12 263.632 - - 4 1 1 - - ./. 0 0 0 0 19 12 19 14 0 0 ./. 2 3 4 5 24 26 24 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327227 4 147695410 G GT 360 PASS TTC29 CCDS47141.1 r.? - - Ins intronic I 147695410 147695415 1 12 319.971 - - 4 1 1 TTC29|CCDS47141.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC29|CCDS47141.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 21 19 22 0 0 ./. 1 5 7 7 33 33 33 33 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327267 4 147985037 C CA 480 PASS - - - - - Ins - I 147985037 147985040 1 21 426.627 - - 2 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 6 2 6 2 31 29 31 29 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327292 4 148082136 AAG A 300 PASS - - - - - Del - D 148082136 148082140 2 10 269.652 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 1 4 1 4 6 26 6 26 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327324 4 148177965 C CA 251 PASS - - - - - Ins - I 148177965 148177973 1 18 369.687 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 5 3 7 25 28 25 29 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327409 4 148425748 G GA 300 PASS EDNRA CCDS3769.1 r.? - - Ins intronic I 148425748 148425757 1 12 266.642 - - 8 1 1 EDNRA|CCDS3769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EDNRA|CCDS3769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 6 3 22 13 22 14 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327650 4 149050942 TC T 300 PASS NR3C2 CCDS3772.1 r.? - - Del intronic D 149050942 149050947 1 10 269.05 - - 4 1 1 NR3C2|CCDS3772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NR3C2|CCDS3772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 1 5 1 32 9 32 9 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327765 4 149454250 CT C 420 PASS - - - - - Del - D 149454250 149454260 1 8 377.513 - - 9 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 0 7 0 8 8 30 8 30 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327766 4 149455088 CT C 254 PASS - - - - - Del - D 149455088 149455098 1 12 269.652 - - 9 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 3 4 3 26 6 26 6 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327781 4 149549690 CT C 360 PASS - - - - - Del - D 149549690 149549698 1 12 321.777 - - 7 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 1 5 2 9 25 34 25 34 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760327888 4 149915886 GA G 300 PASS - - - - - Del - D 149915886 149915896 1 12 269.652 - - 9 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 2 3 3 5 25 27 25 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328045 4 150538431 T TA 300 PASS - - - - - Ins - I 150538431 150538439 1 12 266.04 - - 7 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 2 3 2 26 18 26 18 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328056 4 150600468 CA C 480 PASS - - - - - Del - D 150600468 150600478 1 24 431.444 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 5 3 5 16 25 16 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328066 4 150668045 CA C 420 PASS - - - - - Del - D 150668045 150668054 1 18 377.513 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 2 5 4 26 30 26 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328079 4 150754443 TA T 540 PASS - - - - - Del - D 150754443 150754450 1 28 485.374 - - 6 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 6 3 7 21 25 21 25 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328148 4 151031764 GT G 420 PASS DCLK2 CCDS34076.1 r.? - - Del intronic D 151031764 151031771 1 14 377.513 - - 6 1 1 DCLK2|CCDS34076.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCLK2|CCDS34076.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 6 1 7 3 28 18 28 18 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328212 4 151179712 GGAA G 480 PASS DCLK2 CCDS34076.1 r.? - - Del downstream D 151179712 151179720 3 21 431.444 - - 2 1 1 DCLK2|CCDS34076.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DCLK2|CCDS34076.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 9 17 9 0 0 ./. 6 2 6 3 30 18 30 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328260 4 151300004 GA G 300 PASS LRBA CCDS3773.1 r.? - - Del intronic D 151300004 151300013 1 6 269.652 - - 8 1 1 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 0 5 0 5 0 19 0 19 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328328 4 151479053 GT G 329 PASS LRBA CCDS3773.1 r.? - - Del intronic D 151479053 151479061 1 16 323.583 - - 7 1 1 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 3 5 3 34 21 34 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328455 4 151956535 CTGTT C 389 PASS - - - - - Del - D 151956535 151956543 4 20 377.513 - - 1 1 1 - - ./. 0 0 0 0 3 12 3 12 0 0 ./. 3 4 4 5 26 28 26 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328731 4 152554415 TA T 480 PASS FAM160A1 CCDS47146.1 r.? - - Del intronic D 152554415 152554425 1 24 431.444 - - 9 1 1 FAM160A1|CCDS47146.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM160A1|CCDS47146.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 5 5 7 23 23 23 23 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328923 4 153310552 TAC T 300 PASS FBXW7 CCDS3777.1 r.? - - Del intronic D 153310552 153310566 2 12 268.448 - - 6 1 1 FBXW7|CCDS3777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXW7|CCDS3777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 6 3 31 16 31 16 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328939 4 153467346 CT C 269 PASS - - - - - Del - D 153467346 153467355 1 10 269.652 - - 8 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 1 4 4 5 23 20 23 20 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760328973 4 153559672 AT A 300 PASS TMEM154 CCDS3779.1 r.? - - Del intronic D 153559672 153559682 1 12 269.652 - - 9 1 1 TMEM154|CCDS3779.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM154|CCDS3779.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 3 3 16 33 16 33 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329032 4 153670227 CT C 416 PASS - - - - - Del - D 153670227 153670234 1 30 485.374 - - 6 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 5 5 6 22 31 22 31 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329311 4 154546543 CA C 480 PASS KIAA0922 CCDS3783.2 r.? - - Del intronic D 154546543 154546553 1 24 431.444 - - 9 1 1 KIAA0922|CCDS3783.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0922|CCDS3783.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 5 4 9 29 30 29 30 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329428 4 154805746 CT C 300 PASS - - - - - Del - D 154805746 154805754 1 10 269.652 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 4 2 4 28 34 28 34 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329472 4 155038927 GA G 300 PASS - - - - - Del - D 155038927 155038935 1 12 268.448 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 5 3 22 29 22 29 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329528 4 155220243 T TA 300 PASS DCHS2 CCDS3785.1 r.? - - Ins intronic I 155220243 155220252 1 10 260.622 - - 8 1 1 DCHS2|CCDS3785.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DCHS2|CCDS3785.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 1 4 1 28 1 28 2 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329549 4 155282776 ATC A 300 PASS DCHS2 CCDS3785.1 r.? - - Del intronic D 155282776 155282785 2 12 269.652 - - 4 1 1 DCHS2|CCDS3785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCHS2|CCDS3785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 3 2 4 5 23 21 23 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329568 4 155345309 CA C 540 PASS DCHS2 CCDS47150.1 r.? - - Del intronic D 155345309 155345317 1 28 485.374 - - 7 1 1 DCHS2|CCDS47150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCHS2|CCDS47150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 6 4 6 28 20 28 20 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329610 4 155470614 TA T 360 PASS PLRG1 ENST00000499023 r.? - - Del intronic D 155470614 155470623 1 15 323.583 - - 8 1 1 PLRG1|ENST00000499023|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLRG1|ENST00000499023|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 4 5 4 19 33 19 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329632 4 155558489 CA C 300 PASS LRAT ENST00000502525 r.? - - Del intronic D 155558489 155558498 1 10 269.652 - - 8 1 1 LRAT|ENST00000502525|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LRAT|ENST00000502525|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 1 5 1 24 17 24 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329740 4 155994739 TA T 360 PASS - - - - - Del - D 155994739 155994746 1 12 323.583 - - 6 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 5 1 7 14 35 14 35 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329755 4 156044651 CT C 300 PASS - - - - - Del - D 156044651 156044659 1 6 269.652 - - 7 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 0 5 0 6 5 23 5 23 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329777 4 156110060 GT G 360 PASS - - - - - Del - D 156110060 156110065 1 15 323.583 - - 4 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 2 5 2 14 20 14 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329778 4 156113554 GA G 300 PASS - - - - - Del - D 156113554 156113563 1 12 269.652 - - 8 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 4 2 12 15 12 15 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329779 4 156114424 GC G 300 PASS - - - - - Del - D 156114424 156114428 1 6 269.652 - - 3 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 0 5 1 5 20 21 20 21 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760329796 4 156196263 TA T 300 PASS - - - - - Del - D 156196263 156196272 1 12 269.652 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 5 3 31 18 31 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760330112 4 157197586 TA T 600 PASS - - - - - Del - D 157197586 157197593 1 32 538.101 - - 6 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 7 6 8 32 35 32 35 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760330166 4 157403073 AT A 360 PASS - - - - - Del - D 157403073 157403079 1 15 323.583 - - 5 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 2 4 2 22 20 22 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760330330 4 158071971 C CT 480 PASS GLRB CCDS3796.1 r.? - - Ins intronic I 158071971 158071979 1 24 426.627 - - 7 1 1 GLRB|CCDS3796.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GLRB|CCDS3796.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 5 5 6 16 21 17 21 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760330344 4 158165081 GA G 300 PASS GRIA2 CCDS43275.1 r.? - - Del intronic D 158165081 158165090 1 6 269.652 - - 8 1 1 GRIA2|CCDS43275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIA2|CCDS43275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 0 5 0 5 23 32 23 32 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760330507 4 158682926 TA T 420 PASS - - - - - Del - D 158682926 158682935 1 18 377.513 - - 8 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 2 5 2 26 23 26 23 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760330537 4 158807641 T TA 360 PASS - - - - - Ins - I 158807641 158807650 1 15 319.971 - - 8 1 1 - - ./. 0 0 0 0 13 13 14 13 0 0 ./. 4 2 4 3 27 26 27 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760330881 4 159919149 AT A 540 PASS C4orf45 CCDS47156.1 r.? - - Del intronic D 159919149 159919159 1 30 483.568 - - 9 1 1 C4orf45|CCDS47156.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf45|CCDS47156.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 4 6 5 22 30 22 30 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760330982 4 160190785 CT C 360 PASS RAPGEF2 CCDS43277.1 r.? - - Del intronic D 160190785 160190791 1 16 323.583 - - 5 1 1 RAPGEF2|CCDS43277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAPGEF2|CCDS43277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 4 3 5 19 5 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760331021 4 160283216 CT C 360 PASS RAPGEF2 CCDS43277.1 r.? - - Del downstream D 160283216 160283226 1 15 323.583 - - 9 1 1 RAPGEF2|CCDS43277.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RAPGEF2|CCDS43277.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 2 4 4 26 25 26 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760331068 4 160389621 C CA 300 PASS - - - - - Ins - I 160389621 160389628 1 12 266.642 - - 6 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 2 3 2 30 28 31 29 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760331077 4 160419144 AT A 360 PASS - - - - - Del - D 160419144 160419154 1 15 322.981 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 2 5 2 20 17 20 17 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760331086 4 160449113 G GT 360 PASS - - - - - Ins - I 160449113 160449121 1 12 319.971 - - 7 1 1 - - ./. 0 0 0 0 10 13 11 13 0 0 ./. 5 1 5 3 19 18 19 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760331093 4 160466424 TA T 480 PASS - - - - - Del - D 160466424 160466434 1 16 431.444 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 7 3 10 19 40 19 40 3 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760331673 4 162595479 GA G 360 PASS FSTL5 CCDS3802.1 r.? - - Del intronic D 162595479 162595487 1 7 323.583 - - 7 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 6 0 7 0 25 1 25 1 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760331713 4 162785080 G GA 600 PASS FSTL5 CCDS3802.1 r.? - - Ins intronic I 162785080 162785088 1 32 532.08 - - 7 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 7 3 7 26 32 27 32 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760331722 4 162812127 TA T 358 PASS FSTL5 CCDS3802.1 r.? - - Del intronic D 162812127 162812137 1 20 377.513 - - 9 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 3 6 3 31 16 31 16 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760331767 4 162945196 TA T 420 PASS FSTL5 CCDS3802.1 r.? - - Del intronic D 162945196 162945204 1 20 377.513 - - 7 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 4 3 4 25 22 25 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760332096 4 164010883 GA G 420 PASS - - - - - Del - D 164010883 164010893 1 20 376.911 - - 9 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 3 4 5 5 30 16 30 16 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760332138 4 164239008 CCA C 420 PASS - - - - - Del - D 164239008 164239013 2 14 376.309 - - 2 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 1 6 1 6 15 32 15 32 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760332154 4 164276027 CTT C 360 PASS NPY5R CCDS3804.1 r.? - - Del downstream D 164276027 164276032 2 15 323.583 - - 4 1 1 NPY5R|CCDS3804.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NPY5R|CCDS3804.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 4 3 4 28 27 28 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760332459 4 165082093 CA C 300 PASS MARCH1 CCDS45732.1 r.? - - Del intronic D 165082093 165082102 1 12 269.652 - - 8 1 1 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 3 6 24 22 24 22 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760332545 4 165388775 G GA 420 PASS - - - - - Ins - I 165388775 165388781 1 20 373.299 - - 5 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 4 5 4 30 33 31 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760332627 4 165627941 GAGCA G 538 PASS - - - - - Del - D 165627941 165627950 4 36 539.305 - - 2 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 5 5 6 33 25 33 25 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760332723 4 165912490 AC A 389 PASS - - - - - Del - D 165912490 165912499 1 18 377.513 - - 8 1 1 - - ./. 0 0 0 0 12 3 12 3 0 0 ./. 5 2 5 2 29 14 29 14 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760332757 4 166019770 CA C 334 PASS TMEM192 CCDS43279.1 r.? - - Del intronic D 166019770 166019779 1 15 323.583 - - 8 1 1 TMEM192|CCDS43279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM192|CCDS43279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 4 5 7 28 28 28 28 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760332761 4 166038188 CA C 300 PASS TMEM192 CCDS43279.1 r.? - - Del upstream D 166038188 166038198 1 12 269.652 - - 9 1 1 TMEM192|CCDS43279.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TMEM192|ENST00000506087|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 2 4 4 20 30 20 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760332791 4 166156150 CA C 317 PASS KLHL2 CCDS34094.1 r.? - - Del intronic D 166156150 166156160 1 7 323.583 - - 9 1 1 KLHL2|CCDS34094.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KLHL2|CCDS34094.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 0 6 0 8 4 24 4 24 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760332880 4 166560238 G GC 300 PASS - - - - - Ins - I 166560238 166560246 1 6 265.438 - - 7 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 0 5 2 6 24 26 25 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760333005 4 166975570 AT A 540 PASS TLL1 CCDS3811.1 r.? - - Del intronic D 166975570 166975580 1 30 482.364 - - 9 1 1 TLL1|CCDS3811.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TLL1|CCDS3811.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 5 5 7 12 21 12 21 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760333242 4 167800656 TA T 420 PASS SPOCK3 CCDS34095.1 r.? - - Del intronic D 167800656 167800665 1 14 376.911 - - 8 1 1 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 1 7 1 25 18 25 18 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760333291 4 168000760 GA G 540 PASS SPOCK3 CCDS34095.1 r.? - - Del intronic D 168000760 168000770 1 30 485.374 - - 9 1 1 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 5 6 6 30 31 30 31 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760333323 4 168113115 AT A 360 PASS SPOCK3 CCDS34095.1 r.? - - Del intronic D 168113115 168113123 1 15 322.981 - - 7 1 1 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 2 4 3 13 13 13 13 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760333431 4 168449292 C CT 420 PASS - - - - - Ins - I 168449292 168449300 1 18 373.299 - - 7 1 1 - - ./. 0 0 0 0 15 10 16 10 0 0 ./. 5 2 5 4 29 13 29 14 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760333529 4 168681149 AAC A 300 PASS - - - - - Del - D 168681149 168681152 2 10 263.03 - - 1 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 1 4 1 4 19 27 19 27 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760333803 4 169572728 CT C 600 PASS PALLD CCDS34098.1 r.? - - Del intronic D 169572728 169572738 1 27 536.897 - - 9 1 1 PALLD|CCDS34098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PALLD|CCDS34098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 8 2 9 2 32 31 32 31 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760333813 4 169606149 TA T 300 PASS PALLD CCDS34098.1 r.? - - Del intronic D 169606149 169606159 1 12 269.652 - - 9 1 1 PALLD|CCDS34098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PALLD|CCDS34098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 3 4 5 20 21 20 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760333827 4 169662673 T TA 300 PASS PALLD CCDS34098.1 r.? - - Ins intronic I 169662673 169662683 1 12 266.642 - - 9 1 1 PALLD|CCDS34098.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PALLD|CCDS34098.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 2 5 2 30 22 30 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760333846 4 169694032 GAA G 300 PASS PALLD CCDS34098.1 r.? - - Del intronic D 169694032 169694036 2 10 267.244 - - 3 1 1 PALLD|CCDS34098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PALLD|CCDS34098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 4 1 6 16 31 16 31 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760333942 4 169951744 AT A 360 PASS - - - - - Del - D 169951744 169951753 1 15 323.583 - - 8 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 2 5 3 29 19 29 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760334048 4 170254150 G GA 600 PASS - - - - - Ins - I 170254150 170254159 1 35 532.08 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 6 5 7 24 32 25 32 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760334075 4 170365491 TA T 360 PASS NEK1 CCDS47162.1 r.? - - Del intronic D 170365491 170365501 1 16 322.981 - - 9 1 1 NEK1|CCDS47162.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEK1|CCDS47162.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 3 4 4 9 14 9 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760334131 4 170644232 TTATC T 418 PASS CLCN3 CCDS34100.1 r.? - - Del downstream D 170644232 170644238 4 24 431.444 - - 1 1 1 CLCN3|CCDS34100.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CLCN3|ENST00000513761|r.6101_6104delUAUC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 5 3 7 26 20 26 20 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760334147 4 170693519 AT A 480 PASS - - - - - Del - D 170693519 170693529 1 25 431.444 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 4 5 6 23 27 23 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760334179 4 170793918 AT A 360 PASS - - - - - Del - D 170793918 170793924 1 12 321.175 - - 5 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 1 7 3 24 21 24 21 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760334216 4 170858137 TA T 300 PASS - - - - - Del - D 170858137 170858146 1 12 269.652 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 6 3 27 24 27 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760334262 4 171065473 T TC 420 PASS - - - - - Ins - I 171065473 171065480 1 20 372.095 - - 6 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 3 4 3 21 31 21 31 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760334409 4 171505370 A AT 420 PASS - - - - - Ins - I 171505370 171505380 1 20 373.299 - - 9 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 3 4 6 4 15 21 15 21 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760334614 4 172448482 T TA 360 PASS - - - - - Ins - I 172448482 172448491 1 15 319.971 - - 8 1 1 - - ./. 0 0 0 0 24 7 24 7 0 0 ./. 4 2 4 3 13 16 13 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760334652 4 172644422 GA G 360 PASS - - - - - Del - D 172644422 172644431 1 15 323.583 - - 8 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 2 4 5 29 29 29 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760334754 4 173065596 T TA 360 PASS GALNTL6 CCDS34104.1 r.? - - Ins intronic I 173065596 173065602 1 12 319.971 - - 5 1 1 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 5 1 8 1 32 11 32 12 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760335045 4 173995734 AT A 300 PASS - - - - - Del - D 173995734 173995741 1 6 269.652 - - 6 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 5 0 5 1 26 55 26 55 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760335128 4 174191515 GA G 300 PASS GALNT7 CCDS3815.1 r.? - - Del intronic D 174191515 174191525 1 10 269.652 - - 9 1 1 GALNT7|CCDS3815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT7|CCDS3815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 4 1 5 4 40 34 40 34 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760335233 4 174457467 TA T 480 PASS - - - - - Del - D 174457467 174457475 1 24 427.832 - - 7 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 3 7 4 30 35 30 35 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760335242 4 174480227 AT A 360 PASS - - - - - Del - D 174480227 174480237 1 16 323.583 - - 9 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 3 4 4 31 26 31 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760335289 4 174580895 GT G 420 PASS - - - - - Del - D 174580895 174580905 1 14 377.513 - - 9 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 6 1 7 2 39 30 39 30 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760335330 4 174782583 CA C 300 PASS - - - - - Del - D 174782583 174782592 1 10 269.652 - - 8 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 1 4 2 5 5 21 5 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760335338 4 174810684 CT C 540 PASS - - - - - Del - D 174810684 174810693 1 24 481.16 - - 8 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 2 7 4 8 25 30 25 30 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760335368 4 174919347 AC A 420 PASS - - - - - Del - D 174919347 174919349 1 18 373.299 - - 1 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 2 6 2 31 14 31 14 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760335432 4 175133954 AC A 360 PASS - - - - - Del - D 175133954 175133961 1 16 321.777 - - 6 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 3 5 4 29 31 29 31 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760335612 4 175712693 CT C 360 PASS GLRA3 CCDS3822.1 r.? - - Del intronic D 175712693 175712701 1 16 322.981 - - 7 1 1 GLRA3|CCDS3822.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLRA3|CCDS3822.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 3 3 4 4 16 32 16 32 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760336121 4 177316005 CT C 420 PASS - - - - - Del - D 177316005 177316014 1 8 377.513 - - 8 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 7 0 9 0 31 4 31 4 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760336182 4 177489082 T TG 329 PASS - - - - - Ins - I 177489082 177489090 1 15 319.971 - - 7 1 1 - - ./. 0 0 0 0 12 12 13 12 0 0 ./. 4 2 8 3 29 29 29 29 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760336429 4 178256278 T TA 360 PASS NEIL3 CCDS3828.1 r.? - - Ins intronic I 178256278 178256287 1 12 319.971 - - 8 1 1 NEIL3|CCDS3828.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NEIL3|CCDS3828.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 8 19 8 0 0 ./. 1 5 1 6 25 25 25 25 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760336430 4 178256312 AG A 420 PASS NEIL3 CCDS3828.1 r.? - - Del intronic D 178256312 178256319 1 20 376.309 - - 6 1 1 NEIL3|CCDS3828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEIL3|CCDS3828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 4 5 4 18 21 18 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760336476 4 178372611 GT G 420 PASS - - - - - Del - D 178372611 178372621 1 14 377.513 - - 9 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 6 1 8 4 32 26 32 26 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760336539 4 178527146 CT C 300 PASS - - - - - Del - D 178527146 178527155 1 10 269.652 - - 8 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 1 4 1 14 9 14 9 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760336694 4 178951553 CA C 480 PASS - - - - - Del - D 178951553 178951563 1 21 431.444 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 6 2 7 3 26 3 26 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760336748 4 179192459 C CA 300 PASS - - - - - Ins - I 179192459 179192466 1 12 266.642 - - 6 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 5 3 20 17 20 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760336778 4 179268627 G GCA 300 PASS - - - - - Ins - I 179268627 179268640 2 6 263.632 - - 6 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 0 5 1 6 15 43 15 43 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760336964 4 179922073 GA G 420 PASS - - - - - Del - D 179922073 179922083 1 8 377.513 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 7 0 8 1 28 3 28 3 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760336965 4 179922988 AT A 300 PASS - - - - - Del - D 179922988 179922996 1 12 269.652 - - 7 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 2 5 4 38 23 38 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760337039 4 180142223 G GT 420 PASS - - - - - Ins - I 180142223 180142232 1 18 369.687 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 2 3 3 23 26 23 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760337296 4 180847987 AT A 600 PASS - - - - - Del - D 180847987 180847996 1 20 539.305 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 9 1 10 3 28 22 28 22 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760337346 4 180976132 CT C 420 PASS - - - - - Del - D 180976132 180976141 1 18 377.513 - - 8 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 2 5 4 5 20 17 20 17 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760337703 4 181939406 CA C 360 PASS - - - - - Del - D 181939406 181939416 1 15 323.583 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 4 4 7 20 23 20 23 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760337715 4 181989086 C CA 360 PASS - - - - - Ins - I 181989086 181989096 1 12 315.756 - - 9 1 1 - - ./. 0 0 0 0 6 19 6 19 0 0 ./. 1 5 2 5 23 25 24 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760337741 4 182046093 C CA 420 PASS - - - - - Ins - I 182046093 182046101 1 14 368.483 - - 7 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 6 1 6 5 28 35 28 35 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760337787 4 182154800 GT G 480 PASS - - - - - Del - D 182154800 182154808 1 25 431.444 - - 7 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 4 4 4 22 21 22 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760337884 4 182396509 GT G 300 PASS - - - - - Del - D 182396509 182396518 1 10 269.652 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 3 5 32 22 32 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760337890 4 182404403 GT G 360 PASS - - - - - Del - D 182404403 182404411 1 12 323.583 - - 7 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 1 5 2 7 16 34 16 34 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760337891 4 182409766 TA T 360 PASS - - - - - Del - D 182409766 182409774 1 16 323.583 - - 7 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 3 4 4 21 27 21 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760337993 4 182706852 TC T 480 PASS - - - - - Del - D 182706852 182706859 1 21 430.24 - - 6 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 6 2 7 5 27 26 27 26 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760338004 4 182731630 TG T 300 PASS - - - - - Del - D 182731630 182731637 1 12 269.652 - - 6 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 4 4 18 28 18 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760338031 4 182810317 TG T 329 PASS - - - - - Del - D 182810317 182810322 1 16 322.379 - - 4 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 3 3 4 15 17 15 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760338117 4 183064410 T TG 360 PASS ODZ3 ENST00000512480 r.? - - Ins upstream I 183064410 183064417 1 15 319.971 - - 6 1 1 ODZ3|ENST00000512480|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ODZ3|ENST00000512480|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 2 7 2 39 27 40 27 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760338297 4 183571646 C CT 360 PASS ODZ3 CCDS47165.1 r.? - - Ins intronic I 183571646 183571654 1 15 319.971 - - 7 1 1 ODZ3|CCDS47165.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ODZ3|CCDS47165.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 8 4 8 0 0 ./. 2 4 2 6 10 23 10 23 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760338741 4 184591947 GT G 840 PASS C4orf41 CCDS34112.1 r.? - - Del intronic D 184591947 184591957 1 60 753.221 - - 9 1 1 C4orf41|CCDS34112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf41|CCDS34112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 9 6 9 29 34 29 34 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760338749 4 184617877 GA G 300 PASS C4orf41 CCDS34112.1 r.? - - Del intronic D 184617877 184617881 1 10 269.652 - - 3 1 1 C4orf41|CCDS34112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf41|CCDS34112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 1 4 2 4 17 29 17 29 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760338754 4 184623552 GA G 269 PASS C4orf41 CCDS34112.1 r.? - - Del intronic D 184623552 184623560 1 12 263.632 - - 7 1 1 C4orf41|CCDS34112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf41|CCDS34112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 2 3 3 4 23 23 23 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760338761 4 184636451 G GC 300 PASS C4orf41 CCDS34112.1 r.? - - Ins downstream I 184636451 184636458 1 12 266.642 - - 6 1 1 C4orf41|CCDS34112.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 C4orf41|CCDS34112.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 3 3 3 27 25 27 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760338764 4 184638257 GA G 300 PASS C4orf41 CCDS34112.1 r.? - - Del downstream D 184638257 184638267 1 10 265.438 - - 9 1 1 C4orf41|CCDS34112.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C4orf41|CCDS34112.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 7 7 7 0 0 ./. 1 4 1 5 34 27 34 27 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339082 4 185407481 A AT 420 PASS - - - - - Ins - I 185407481 185407487 1 18 373.299 - - 5 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 5 3 7 22 36 22 36 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339087 4 185420160 GA G 420 PASS - - - - - Del - D 185420160 185420170 1 18 377.513 - - 9 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 5 2 6 5 27 25 27 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339254 4 185812537 G GA 420 PASS - - - - - Ins - I 185812537 185812546 1 20 373.299 - - 8 1 1 - - ./. 0 0 0 0 12 5 13 5 0 0 ./. 3 4 5 5 17 21 18 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339311 4 186006459 GT G 300 PASS - - - - - Del - D 186006459 186006469 1 10 269.652 - - 9 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 4 1 4 9 24 9 24 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339371 4 186119943 CA C 360 PASS KIAA1430 CCDS47168.1 r.? - - Del intronic D 186119943 186119952 1 12 323.583 - - 8 1 1 KIAA1430|CCDS47168.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1430|CCDS47168.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 1 5 1 8 18 16 18 16 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339411 4 186167046 AT A 300 PASS SNX25 CCDS34116.1 r.? - - Del intronic D 186167046 186167055 1 10 268.448 - - 8 1 1 SNX25|CCDS34116.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SNX25|CCDS34116.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 1 4 3 4 26 19 26 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339427 4 186226567 CT C 360 PASS SNX25 CCDS34116.1 r.? - - Del intronic D 186226567 186226575 1 16 323.583 - - 7 1 1 SNX25|CCDS34116.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX25|CCDS34116.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 3 5 3 26 27 26 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339438 4 186292529 T TA 480 PASS LRP2BP CCDS3840.1 r.? - - Ins intronic I 186292529 186292536 1 25 426.627 - - 6 1 1 LRP2BP|CCDS3840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRP2BP|CCDS3840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 4 8 5 27 27 27 27 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339537 4 186510296 CT C 360 PASS SORBS2 CCDS3845.1 r.? - - Del intronic D 186510296 186510306 1 16 322.981 - - 9 1 1 SORBS2|CCDS3845.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORBS2|CCDS3845.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 3 5 3 24 17 24 17 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339614 4 186724469 CA C 420 PASS SORBS2 CCDS3845.1 r.? - - Del intronic D 186724469 186724478 1 20 377.513 - - 8 1 1 SORBS2|CCDS3845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SORBS2|CCDS3845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 4 3 7 17 23 17 23 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339667 4 186867493 CA C 360 PASS SORBS2 CCDS3845.1 r.? - - Del intronic D 186867493 186867501 1 12 323.583 - - 7 1 1 SORBS2|CCDS3845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SORBS2|CCDS3845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 1 6 1 28 16 28 16 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339689 4 186938966 GA G 540 PASS - - - - - Del - D 186938966 186938975 1 30 482.966 - - 8 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 4 5 5 28 26 28 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339692 4 186947783 TG T 300 PASS - - - - - Del - D 186947783 186947790 1 12 269.652 - - 6 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 2 4 2 19 29 19 29 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339697 4 186954861 GA G 300 PASS - - - - - Del - D 186954861 186954870 1 10 267.244 - - 8 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 4 3 4 22 34 22 34 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339706 4 186989957 AT A 480 PASS TLR3 CCDS3846.1 r.? - - Del upstream D 186989957 186989967 1 25 431.444 - - 9 1 1 TLR3|CCDS3846.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TLR3|CCDS3846.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 19 11 19 11 0 0 ./. 4 4 5 5 36 20 36 20 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339748 4 187072553 AT A 600 PASS FAM149A CCDS34117.1 r.? - - Del intronic D 187072553 187072563 1 35 538.101 - - 9 1 1 FAM149A|CCDS34117.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM149A|CCDS34117.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 6 4 10 4 35 21 35 21 10 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339817 4 187234934 CA C 300 PASS - - - - - Del - D 187234934 187234943 1 12 269.652 - - 8 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 2 3 8 22 29 22 29 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339950 4 187607427 AT A 300 PASS FAT1 CCDS47177.1 r.? - - Del intronic D 187607427 187607435 1 10 269.652 - - 7 1 1 FAT1|CCDS47177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAT1|CCDS47177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 4 5 7 19 44 19 44 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760339971 4 187661049 G GA 300 PASS - - - - - Ins - I 187661049 187661057 1 12 266.642 - - 7 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 2 3 3 3 37 9 37 9 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760340009 4 187772843 A AT 900 PASS - - - - - Ins - I 187772843 187772849 1 70 799.926 - - 5 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 9 7 10 32 34 32 34 7 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760340023 4 187812849 AT A 360 PASS - - - - - Del - D 187812849 187812858 1 15 323.583 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 2 6 5 29 23 29 23 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760340147 4 188182927 TA T 300 PASS - - - - - Del - D 188182927 188182937 1 10 269.652 - - 9 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 1 4 1 5 5 26 5 26 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760340227 4 188421194 CT C 420 PASS - - - - - Del - D 188421194 188421199 1 20 377.513 - - 4 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 4 5 4 26 23 26 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760340271 4 188519117 TA T 360 PASS - - - - - Del - D 188519117 188519126 1 15 323.583 - - 8 1 1 - - ./. 0 0 0 0 19 4 19 4 0 0 ./. 4 2 8 2 34 21 34 21 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760340408 4 188923331 CA C 600 PASS ZFP42 CCDS3849.1 r.? - - Del intronic D 188923331 188923341 1 35 537.499 - - 9 1 1 ZFP42|CCDS3849.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZFP42|CCDS3849.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 6 4 7 23 38 23 38 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760340509 4 189069648 C CA 389 PASS TRIML1 CCDS3851.1 r.? - - Ins downstream I 189069648 189069658 1 20 370.891 - - 9 1 1 TRIML1|CCDS3851.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TRIML1|CCDS3851.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 3 5 6 23 26 23 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760340705 4 189445116 C CA 300 PASS - - - - - Ins - I 189445116 189445126 1 12 255.203 - - 9 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 3 2 4 2 27 19 28 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760340767 4 189566383 AT A 360 PASS - - - - - Del - D 189566383 189566393 1 15 321.777 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 2 6 2 25 20 25 20 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760340897 4 189908181 CT C 360 PASS - - - - - Del - D 189908181 189908191 1 16 323.583 - - 9 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 3 3 4 31 20 31 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760342280 5 163157 AC A 420 PASS PLEKHG4B CCDS34124.1 r.1953delC c.1903delC p.S636fs*88 Del frameshift D 163157 163161 1 20 376.26 - - 3 1 1 PLEKHG4B|CCDS34124.1|r.1953delC|c.1903delC|p.S636fs*88|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PLEKHG4B|CCDS34124.1|r.1953delC|c.1903delC|p.S636fs*88|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 4 5 5 30 25 30 25 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760342669 5 1577713 CT C 480 PASS - - - - - Del - D 1577713 1577723 1 24 432.075 - - 9 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 3 5 7 5 27 22 27 22 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760343014 5 2593807 CA C 420 PASS - - - - - Del - D 2593807 2593815 1 14 378.066 - - 7 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 6 1 6 1 37 25 37 25 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760343271 5 3301264 CT C 600 PASS - - - - - Del - D 3301264 3301274 1 35 536.482 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 6 4 11 17 30 17 30 4 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760343288 5 3330148 AG A 360 PASS - - - - - Del - D 3330148 3330155 1 15 324.056 - - 6 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 2 4 3 4 22 21 22 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760343308 5 3378883 A AT 360 PASS - - - - - Ins - I 3378883 3378892 1 16 319.842 - - 8 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 3 6 4 25 40 25 41 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760343403 5 3599264 G GTC 300 PASS IRX1 CCDS34132.1 r.? - - Ins intronic I 3599264 3599281 2 12 256.2 - - 8 1 1 IRX1|CCDS34132.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IRX1|CCDS34132.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 2 4 21 35 22 35 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760343428 5 3684597 AT A 420 PASS - - - - - Del - D 3684597 3684607 1 18 372.647 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 5 3 7 23 24 23 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760343479 5 3851653 AT A 257 PASS - - - - - Del - D 3851653 3851662 1 12 269.445 - - 8 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 3 3 3 26 28 26 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760343638 5 4347512 GT G 449 PASS - - - - - Del - D 4347512 4347522 1 25 423.646 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 4 6 6 37 28 37 28 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760343729 5 4663832 AT A 449 PASS - - - - - Del - D 4663832 4663841 1 24 432.075 - - 8 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 3 6 4 19 25 19 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760343825 5 5044474 A AT 300 PASS - - - - - Ins - I 5044474 5044482 1 12 266.435 - - 7 1 1 - - ./. 0 0 0 0 14 18 14 19 0 0 ./. 3 2 4 2 28 23 29 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760343917 5 5316425 G GT 360 PASS ADAMTS16 CCDS43299.1 r.? - - Ins intronic I 5316425 5316433 1 12 320.444 - - 7 1 1 ADAMTS16|CCDS43299.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAMTS16|CCDS43299.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 1 5 3 6 40 33 40 33 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760344049 5 5768499 GC G 300 PASS - - - - - Del - D 5768499 5768507 1 10 268.843 - - 7 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 1 4 1 6 11 31 11 31 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760344056 5 5804849 TA T 269 PASS - - - - - Del - D 5804849 5804859 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 3 2 3 22 21 22 21 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760344510 5 7214011 GT G 300 PASS - - - - - Del - D 7214011 7214020 1 6 270.047 - - 8 1 - - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 5 0 6 0 26 0 26 0 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760344558 5 7323473 GA G 480 PASS - - - - - Del - D 7323473 7323483 1 25 429.667 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 4 5 5 18 23 18 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760344630 5 7572500 AT A 300 PASS ADCY2 CCDS3872.2 r.? - - Del intronic D 7572500 7572508 1 12 270.047 - - 7 1 1 ADCY2|CCDS3872.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY2|CCDS3872.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 2 4 3 37 25 37 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760344687 5 7783651 TA T 480 PASS ADCY2 CCDS3872.2 r.? - - Del intronic D 7783651 7783660 1 24 428.463 - - 8 1 1 ADCY2|CCDS3872.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY2|CCDS3872.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 3 6 4 22 30 22 30 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760344960 5 8574309 TG T 360 PASS - - - - - Del - D 8574309 8574318 1 16 322.852 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 3 4 4 20 33 20 33 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760344970 5 8585306 AC A 300 PASS - - - - - Del - D 8585306 8585313 1 12 270.047 - - 6 1 - - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 2 3 2 3 7 16 7 16 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760345027 5 8755461 AAG A 420 PASS - - - - - Del - D 8755461 8755476 2 18 378.066 - - 7 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 5 2 5 3 23 20 23 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760345032 5 8767848 TG T 420 PASS - - - - - Del - D 8767848 8767857 1 20 378.066 - - 8 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 4 3 6 24 26 24 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760345193 5 9265210 CTG C 269 PASS SEMA5A CCDS3875.1 r.? - - Del intronic D 9265210 9265215 2 12 258.006 - - 2 1 1 SEMA5A|CCDS3875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEMA5A|CCDS3875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 2 4 2 25 19 25 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760345259 5 9469817 AT A 300 PASS SEMA5A CCDS3875.1 r.? - - Del intronic D 9469817 9469826 1 12 270.047 - - 8 1 1 SEMA5A|CCDS3875.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SEMA5A|CCDS3875.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 2 3 5 4 25 23 25 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760345306 5 9622281 GT G 360 PASS - - - - - Del - D 9622281 9622290 1 15 324.056 - - 8 1 - - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 4 2 4 18 13 18 13 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760345715 5 10821827 G GT 360 PASS - - - - - Ins - I 10821827 10821836 1 15 319.842 - - 8 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 2 4 6 4 25 23 25 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760345831 5 11183982 ACTCT A 327 PASS CTNND2 CCDS3881.1 r.? - - Del intronic D 11183982 11183993 4 18 378.066 - - 5 1 1 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 5 4 8 22 28 22 28 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760345914 5 11546839 GAGA G 540 PASS CTNND2 CCDS3881.1 r.? - - Del intronic D 11546839 11546847 3 28 486.085 - - 2 1 1 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 3 6 3 7 23 14 23 14 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760345959 5 11727631 CT C 420 PASS CTNND2 CCDS3881.1 r.? - - Del intronic D 11727631 11727641 1 20 378.066 - - 9 1 1 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 12 21 12 0 0 ./. 4 3 5 6 27 28 27 28 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760346087 5 12151876 GA G 329 PASS - - - - - Del - D 12151876 12151885 1 15 324.056 - - 8 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 4 2 5 3 25 22 25 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760346315 5 13031137 T TA 540 PASS - - - - - Ins - I 13031137 13031144 1 30 480.666 - - 6 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 5 4 6 5 23 28 23 29 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760346363 5 13187293 CT C 360 PASS - - - - - Del - D 13187293 13187303 1 16 324.056 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 3 4 13 23 13 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760346465 5 13466768 GA G 300 PASS - - - - - Del - D 13466768 13466778 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 3 3 22 14 22 14 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760346618 5 13930579 CTTCT C 329 PASS DNAH5 CCDS3882.1 r.? - - Del intronic D 13930579 13930590 4 12 324.056 - - 2 1 1 DNAH5|CCDS3882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH5|CCDS3882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 1 5 1 27 20 27 20 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760346718 5 14195052 CT C 360 PASS TRIO CCDS3883.1 r.? - - Del intronic D 14195052 14195062 1 16 324.056 - - 9 1 1 TRIO|CCDS3883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIO|CCDS3883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 3 4 4 18 28 18 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760346793 5 14436444 CG C 600 PASS TRIO CCDS3883.1 r.? - - Del intronic D 14436444 14436448 1 35 538.89 - - 3 1 1 TRIO|CCDS3883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIO|CCDS3883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 3 12 3 0 0 ./. 4 6 6 6 26 27 26 27 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760346814 5 14511334 AT A 300 PASS TRIO CCDS3883.1 r.? - - Del downstream D 14511334 14511344 1 12 270.047 - - 9 1 1 TRIO|CCDS3883.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TRIO|ENST00000513206|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 2 4 3 18 24 18 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760346882 5 14684659 GC G 300 PASS FAM105B CCDS43302.1 r.? - - Del intronic D 14684659 14684666 1 10 270.047 - - 6 1 1 FAM105B|CCDS43302.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM105B|CCDS43302.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 1 7 1 25 15 25 15 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347004 5 15105546 GA G 449 PASS - - - - - Del - D 15105546 15105555 1 16 432.075 - - 8 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 1 7 1 10 19 26 19 26 1 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347100 5 15479401 CT C 420 PASS - - - - - Del - D 15479401 15479409 1 8 378.066 - - 7 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 0 7 0 8 2 34 2 34 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347124 5 15566140 CT C 300 PASS FBXL7 ENST00000504595 r.? - - Del intronic D 15566140 15566150 1 10 270.047 - - 9 1 1 FBXL7|ENST00000504595|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXL7|ENST00000504595|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 3 10 3 0 0 ./. 4 1 4 2 28 15 28 15 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347134 5 15618194 GA G 300 PASS FBXL7 ENST00000504595 r.? - - Del intronic D 15618194 15618201 1 10 268.843 - - 6 1 1 FBXL7|ENST00000504595|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXL7|ENST00000504595|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 1 6 2 21 20 21 20 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347290 5 16209324 GA G 420 PASS - - - - - Del - D 16209324 16209333 1 20 378.066 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 3 5 8 25 26 25 26 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347594 5 16907948 CT C 300 PASS MYO10 ENST00000427430 r.? - - Del intronic D 16907948 16907954 1 10 268.241 - - 5 1 1 MYO10|ENST00000427430|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO10|ENST00000427430|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 1 4 1 19 12 19 12 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347645 5 17002503 CT C 540 PASS - - - - - Del - D 17002503 17002513 1 30 486.085 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 4 5 8 19 23 19 23 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347733 5 17109382 CT C 477 PASS - - - - - Del - D 17109382 17109392 1 24 428.463 - - 9 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 5 3 6 31 29 31 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347776 5 17172485 CA C 480 PASS - - - - - Del - D 17172485 17172492 1 24 432.075 - - 6 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 5 4 5 27 21 27 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347805 5 17236381 C CT 300 PASS BASP1 CCDS3888.1 r.? - - Ins intronic I 17236381 17236390 1 12 267.037 - - 8 1 1 BASP1|CCDS3888.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BASP1|CCDS3888.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 3 6 22 28 22 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347839 5 17349270 G GCT 300 PASS - - - - - Ins - I 17349270 17349287 2 12 264.026 - - 8 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 3 3 30 31 30 31 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760347965 5 17837771 CT C 360 PASS - - - - - Del - D 17837771 17837779 1 15 323.454 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 2 5 6 24 26 24 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348079 5 18160097 GT G 360 PASS - - - - - Del - D 18160097 18160106 1 15 324.056 - - 8 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 2 4 4 4 6 17 6 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348305 5 18752741 AT A 840 PASS - - - - - Del - D 18752741 18752751 1 64 756.132 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 7 7 9 11 25 24 25 24 9 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348330 5 18869293 CT C 300 PASS - - - - - Del - D 18869293 18869301 1 10 270.047 - - 7 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 1 4 2 4 12 15 12 15 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348382 5 19117813 GT G 300 PASS - - - - - Del - D 19117813 19117823 1 10 270.047 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 1 4 3 6 9 19 9 19 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348420 5 19269550 C CT 360 PASS - - - - - Ins - I 19269550 19269553 1 16 320.444 - - 2 1 1 - - ./. 0 0 0 0 18 7 18 8 0 0 ./. 3 3 4 3 24 11 25 11 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348479 5 19489599 GC G 300 PASS CDH18 CCDS3652.1 r.? - - Del intronic D 19489599 19489606 1 10 270.047 - - 6 1 1 CDH18|CCDS3652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH18|CCDS3652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 4 1 6 2 21 16 21 16 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348575 5 19740094 GA G 600 PASS CDH18 CCDS3652.1 r.? - - Del intronic D 19740094 19740104 1 11 538.89 - - 9 1 1 CDH18|CCDS3652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH18|CCDS3652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 0 10 0 10 2 32 2 32 0 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348679 5 20215189 TA T 360 PASS CDH18 CCDS3652.1 r.? - - Del intronic D 20215189 20215197 1 15 324.056 - - 7 1 1 CDH18|CCDS3652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CDH18|CCDS3652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 4 2 5 11 25 11 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348699 5 20301071 TA T 300 PASS CDH18 CCDS3652.1 r.? - - Del intronic D 20301071 20301080 1 12 270.047 - - 8 1 1 CDH18|CCDS3652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CDH18|CCDS3652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 4 20 16 20 16 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348816 5 20630270 AT A 300 PASS - - - - - Del - D 20630270 20630279 1 12 269.445 - - 8 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 2 3 2 7 21 34 21 34 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348830 5 20669443 TAA T 360 PASS - - - - - Del - D 20669443 20669448 2 16 324.056 - - 4 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 3 3 3 4 15 18 15 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760348996 5 21240359 GT G 300 PASS - - - - - Del - D 21240359 21240369 1 10 267.639 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 4 1 6 4 25 4 25 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760349188 5 21577586 AT A 420 PASS - - - - - Del - D 21577586 21577596 1 20 372.045 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 4 4 6 17 23 17 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760349229 5 21737604 GT G 277 PASS - - - - - Del - D 21737604 21737614 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 2 4 18 28 18 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760349367 5 22318991 GA G 420 PASS CDH12 CCDS3890.1 r.? - - Del intronic D 22318991 22319001 1 20 378.066 - - 9 1 1 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 4 4 4 27 31 27 31 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760349480 5 22928683 GA G 420 PASS - - - - - Del - D 22928683 22928692 1 18 378.066 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 5 2 6 3 35 3 35 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760349549 5 23361239 A AG 360 PASS - - - - - Ins - I 23361239 23361245 1 12 320.444 - - 5 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 5 1 5 17 23 17 23 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760349590 5 23546813 AT A 300 PASS - - - - - Del - D 23546813 23546823 1 12 268.843 - - 9 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 2 3 2 3 20 24 20 24 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760349853 5 24303576 CA C 480 PASS - - - - - Del - D 24303576 24303586 1 16 427.861 - - 9 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 7 1 7 1 26 7 26 7 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760349981 5 24693016 AAG A 300 PASS - - - - - Del - D 24693016 24693030 2 12 270.047 - - 6 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 3 2 4 17 25 17 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350037 5 24886393 GA G 300 PASS - - - - - Del - D 24886393 24886403 1 10 270.047 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 4 1 4 24 28 24 28 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350081 5 25097427 CA C 360 PASS AC106810.1 ENST00000515097 r.? - - Del intronic D 25097427 25097432 1 12 323.454 - - 4 1 1 AC106810.1|ENST00000515097|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC106810.1|ENST00000515097|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 5 1 7 17 30 17 30 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350174 5 25629666 C CA 480 PASS - - - - - Ins - I 25629666 25629676 1 16 426.055 - - 9 1 1 - - ./. 0 0 0 0 16 17 17 17 0 0 ./. 7 1 8 2 37 25 37 26 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350281 5 25916049 TA T 300 PASS - - - - - Del - D 25916049 25916058 1 12 270.047 - - 8 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 3 4 4 25 18 25 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350353 5 26109957 C CA 300 PASS - - - - - Ins - I 26109957 26109965 1 12 267.037 - - 7 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 3 3 4 14 26 14 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350372 5 26150972 TA T 420 PASS - - - - - Del - D 26150972 26150981 1 20 377.464 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 4 4 4 19 25 19 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350418 5 26294719 TA T 300 PASS - - - - - Del - D 26294719 26294728 1 10 270.047 - - 8 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 1 7 1 25 13 25 13 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350466 5 26637971 G GT 300 PASS - - - - - Ins - I 26637971 26637979 1 12 267.037 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 3 7 13 33 13 34 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350652 5 27202156 CAA C 254 PASS - - - - - Del - D 27202156 27202165 2 20 378.066 - - 8 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 4 3 5 3 28 24 28 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350696 5 27448945 TTA T 300 PASS - - - - - Del - D 27448945 27448953 2 10 270.047 - - 3 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 4 1 7 26 21 26 21 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350869 5 28233597 A AC 300 PASS - - - - - Ins - I 28233597 28233603 1 6 267.037 - - 5 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 0 6 1 18 4 19 4 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760350910 5 28438179 A AT 360 PASS - - - - - Ins - I 28438179 28438186 1 15 319.24 - - 6 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 2 4 4 6 24 25 24 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760351008 5 28835418 TG T 360 PASS - - - - - Del - D 28835418 28835424 1 16 324.056 - - 5 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 3 3 4 30 24 30 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760351041 5 28985730 AT A 300 PASS - - - - - Del - D 28985730 28985737 1 12 270.047 - - 6 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 4 2 20 11 20 11 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760351061 5 29071770 TA T 300 PASS AC024589.2 ENST00000509556 r.? - - Del intronic D 29071770 29071777 1 12 270.047 - - 6 1 1 AC024589.2|ENST00000509556|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC024589.2|ENST00000509556|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 3 18 3 0 0 ./. 3 2 4 2 27 4 27 4 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760351397 5 30023894 G GA 360 PASS - - - - - Ins - I 30023894 30023903 1 16 320.444 - - 8 1 1 - - ./. 0 0 0 0 16 14 16 15 0 0 ./. 3 3 3 3 18 17 20 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760351567 5 30624858 T TA 540 PASS - - - - - Ins - I 30624858 30624865 1 24 480.666 - - 6 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 7 2 8 5 23 16 23 16 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760351568 5 30628070 CA C 420 PASS - - - - - Del - D 30628070 30628080 1 8 378.066 - - 9 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 7 0 9 0 21 5 21 5 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760351619 5 30816863 GT G 420 PASS - - - - - Del - D 30816863 30816871 1 18 377.464 - - 7 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 5 3 6 24 34 24 34 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760351800 5 31355948 AT A 420 PASS - - - - - Del - D 31355948 31355957 1 18 376.862 - - 8 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 2 5 2 8 18 36 18 36 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760351886 5 31572051 TA T 300 PASS - - - - - Del - D 31572051 31572061 1 10 266.435 - - 9 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 1 5 3 27 17 27 17 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760351920 5 31631937 CT C 720 PASS - - - - - Del - D 31631937 31631947 1 40 637.878 - - 9 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 9 4 9 22 18 22 18 4 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760352183 5 32095203 AGAG A 389 PASS PDZD2 CCDS34137.1 r.? - - Del intronic D 32095203 32095210 3 18 378.066 - - 2 1 1 PDZD2|CCDS34137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDZD2|CCDS34137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 2 5 3 25 13 25 13 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760352186 5 32107224 AT A 300 PASS PDZD2 CCDS34137.1 r.? - - Del intronic D 32107224 32107233 1 12 270.047 - - 8 1 1 PDZD2|CCDS34137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDZD2|CCDS34137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 2 4 2 31 14 31 14 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760352226 5 32181240 GA G 360 PASS - - - - - Del - D 32181240 32181250 1 15 324.056 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 2 4 2 30 36 30 36 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760352261 5 32260835 C CG 295 PASS MTMR12 CCDS34138.1 r.? - - Ins intronic I 32260835 32260843 1 12 262.822 - - 7 1 1 MTMR12|CCDS34138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTMR12|CCDS34138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 4 2 27 24 27 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760352283 5 32305203 CT C 300 PASS MTMR12 CCDS34138.1 r.? - - Del intronic D 32305203 32305213 1 12 270.047 - - 9 1 1 MTMR12|CCDS34138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTMR12|CCDS34138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 4 3 17 25 17 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760352337 5 32382719 ATT A 420 PASS ZFR CCDS34139.1 r.? - - Del intronic D 32382719 32382729 2 18 378.066 - - 9 1 1 ZFR|CCDS34139.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFR|CCDS34139.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 2 5 3 19 20 19 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760352398 5 32482626 GT G 300 PASS - - - - - Del - D 32482626 32482634 1 10 270.047 - - 7 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 4 2 4 31 25 31 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760352473 5 32659745 C CT 547 PASS - - - - - Ins - I 32659745 32659752 1 32 532.267 - - 6 1 1 - - ./. 0 0 0 0 12 10 12 11 0 0 ./. 7 3 9 6 38 18 40 18 9 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760352789 5 33705083 GT G 660 PASS ADAMTS12 ENST00000504830 r.? - - Del intronic D 33705083 33705091 1 42 592.899 - - 7 1 1 ADAMTS12|ENST00000504830|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS12|ENST00000504830|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 6 5 7 20 27 20 27 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760353170 5 34825216 C CA 337 PASS RAI14 CCDS34142.1 r.? - - Ins intronic I 34825216 34825223 1 15 320.444 - - 6 1 1 RAI14|CCDS34142.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAI14|CCDS34142.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 4 3 5 22 22 22 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760353223 5 34968984 TA T 360 PASS - - - - - Del - D 34968984 34968993 1 16 324.056 - - 8 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 3 3 3 3 21 14 21 14 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760353306 5 35241058 GT G 540 PASS - - - - - Del - D 35241058 35241068 1 30 481.87 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 5 6 5 31 24 31 24 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760353435 5 35848731 CA C 298 PASS IL7R ENST00000508941 r.? - - Del upstream D 35848731 35848740 1 15 322.852 - - 8 1 1 IL7R|ENST00000508941|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 IL7R|ENST00000508941|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 2 4 5 19 24 19 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760353720 5 36648269 AAG A 360 PASS SLC1A3 CCDS3919.1 r.? - - Del intronic D 36648269 36648274 2 12 324.056 - - 2 1 1 SLC1A3|CCDS3919.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC1A3|CCDS3919.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 1 7 1 33 18 33 18 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760353779 5 36837438 TA T 360 PASS - - - - - Del - D 36837438 36837448 1 12 324.056 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 1 7 2 24 19 24 19 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760353915 5 37316110 C CA 660 PASS NUP155 CCDS3921.1 r.? - - Ins intronic I 37316110 37316118 1 40 585.674 - - 7 1 1 NUP155|CCDS3921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUP155|CCDS3921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 12 0 0 ./. 4 7 5 8 22 30 22 30 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760353964 5 37409918 C CT 389 PASS WDR70 CCDS34147.1 r.? - - Ins intronic I 37409918 37409926 1 20 373.851 - - 7 1 1 WDR70|CCDS34147.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR70|CCDS34147.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 4 3 4 4 26 25 26 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354037 5 37543545 C CT 420 PASS WDR70 CCDS34147.1 r.? - - Ins intronic I 37543545 37543550 1 18 369.035 - - 4 1 1 WDR70|CCDS34147.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR70|CCDS34147.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 2 6 2 27 25 27 25 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354383 5 38678363 GT G 420 PASS - - - - - Del - D 38678363 38678371 1 20 378.066 - - 7 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 3 5 4 29 21 29 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354517 5 39210825 C CT 360 PASS FYB CCDS47200.1 r.? - - Ins intronic I 39210825 39210829 1 7 319.24 - - 3 1 1 FYB|CCDS47200.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FYB|CCDS47200.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 5 16 5 0 0 ./. 0 6 1 7 5 25 6 26 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354575 5 39413617 CA C 420 PASS DAB2 CCDS34149.1 r.? - - Del intronic D 39413617 39413625 1 20 378.066 - - 7 1 1 DAB2|CCDS34149.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DAB2|CCDS34149.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 4 5 6 27 28 27 28 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354583 5 39433163 CGT C 300 PASS DAB2 ENST00000511792 r.? - - Del intronic D 39433163 39433177 2 10 270.047 - - 6 1 - DAB2|ENST00000511792|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DAB2|ENST00000511792|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 4 1 9 2 27 29 27 29 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354615 5 39530322 AT A 360 PASS - - - - - Del - D 39530322 39530331 1 12 324.056 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 5 2 6 16 25 16 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354620 5 39535300 CA C 300 PASS - - - - - Del - D 39535300 39535305 1 10 270.047 - - 4 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 4 2 4 20 30 20 30 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354654 5 39650169 GGA G 329 PASS - - - - - Del - D 39650169 39650188 2 15 323.454 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 4 4 6 26 24 26 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354738 5 39986330 GC G 300 PASS - - - - - Del - D 39986330 39986334 1 12 270.047 - - 3 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 2 3 4 14 38 14 38 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354771 5 40086053 TA T 420 PASS - - - - - Del - D 40086053 40086062 1 20 378.066 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 3 4 3 18 7 18 7 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354832 5 40288986 TA T 300 PASS - - - - - Del - D 40288986 40288996 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 3 2 3 30 28 30 28 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760354867 5 40413545 TA T 540 PASS - - - - - Del - D 40413545 40413555 1 28 486.085 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 6 3 6 3 24 30 24 30 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760355043 5 40918458 CA C 658 PASS C7 CCDS47201.1 r.? - - Del intronic D 40918458 40918468 1 48 640.888 - - 9 1 1 C7|CCDS47201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7|CCDS47201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 5 7 8 8 23 16 23 16 8 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760355175 5 41439306 TA T 360 PASS PLCXD3 CCDS34150.1 r.? - - Del intronic D 41439306 41439314 1 12 324.056 - - 7 1 1 PLCXD3|CCDS34150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCXD3|CCDS34150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 1 9 1 34 14 34 14 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760355264 5 42012426 ATG A 300 PASS - - - - - Del - D 42012426 42012444 2 12 270.047 - - 8 1 - - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 3 2 3 2 22 27 22 27 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760355630 5 43179720 CA C 300 PASS ZNF131 CCDS43313.1 r.? - - Del downstream D 43179720 43179730 1 12 270.047 - - 9 1 1 ZNF131|CCDS43313.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF131|CCDS43313.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 2 5 22 29 22 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760355756 5 43597501 GT G 480 PASS - - - - - Del - D 43597501 43597506 1 25 432.075 - - 4 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 4 4 6 34 32 34 32 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760355771 5 43710406 GT G 360 PASS NNT CCDS3949.1 r.? - - Del downstream D 43710406 43710414 1 12 324.056 - - 7 1 1 NNT|CCDS3949.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NNT|CCDS3949.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 8 6 8 0 0 ./. 1 5 1 7 4 39 4 39 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760355778 5 43752886 C CA 360 PASS - - - - - Ins - I 43752886 43752890 1 16 320.444 - - 3 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 3 5 3 35 40 35 41 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760355790 5 43860703 CT C 360 PASS - - - - - Del - D 43860703 43860712 1 15 323.454 - - 8 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 2 4 2 18 19 18 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760355937 5 44591964 TA T 300 PASS - - - - - Del - D 44591964 44591973 1 10 270.047 - - 8 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 1 4 1 5 18 21 18 21 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356018 5 45122279 GT G 300 PASS - - - - - Del - D 45122279 45122289 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 2 4 17 18 17 18 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356031 5 45194950 CA C 360 PASS - - - - - Del - D 45194950 45194955 1 12 324.056 - - 4 1 - - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 1 7 1 31 4 31 4 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356078 5 45580545 GA G 292 PASS HCN1 CCDS3952.1 r.? - - Del intronic D 45580545 45580553 1 10 270.047 - - 7 1 1 HCN1|CCDS3952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HCN1|CCDS3952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 7 20 7 0 0 ./. 1 4 2 5 20 27 20 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356138 5 45957328 GA G 660 PASS - - - - - Del - D 45957328 45957334 1 40 594.103 - - 5 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 7 4 8 6 36 35 36 35 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356280 5 49635983 TAA T 420 PASS - - - - - Del - D 49635983 49635987 2 20 378.066 - - 3 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 3 4 5 4 19 31 19 31 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356400 5 50151001 GA G 300 PASS - - - - - Del - D 50151001 50151007 1 12 270.047 - - 5 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 4 4 31 30 31 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356505 5 50573934 A AT 360 PASS - - - - - Ins - I 50573934 50573943 1 16 319.842 - - 8 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 3 4 4 8 26 8 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356641 5 51139162 CT C 358 PASS - - - - - Del - D 51139162 51139172 1 20 378.066 - - 9 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 3 4 5 4 29 20 29 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356758 5 51616770 C CA 360 PASS - - - - - Ins - I 51616770 51616775 1 7 320.444 - - 4 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 0 7 0 25 4 25 5 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356786 5 51746949 GT G 360 PASS - - - - - Del - D 51746949 51746959 1 16 324.056 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 3 3 14 19 14 19 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356837 5 51935925 G GA 420 PASS - - - - - Ins - I 51935925 51935932 1 20 373.851 - - 6 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 4 3 4 19 27 19 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760356904 5 52142243 GA G 300 PASS ITGA1 CCDS3955.1 r.? - - Del intronic D 52142243 52142253 1 12 264.628 - - 9 1 1 ITGA1|CCDS3955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGA1|CCDS3955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 3 2 4 11 22 11 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760357203 5 53173357 CT C 360 PASS - - - - - Del - D 53173357 53173366 1 7 324.056 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 0 6 0 6 27 30 27 30 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760357276 5 53370514 CAG C 360 PASS - - - - - Del - D 53370514 53370522 2 15 324.056 - - 3 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 4 3 5 6 24 6 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760357611 5 54464506 TA T 269 PASS GPX8 CCDS34156.1 r.? - - Del downstream D 54464506 54464513 1 12 270.047 - - 6 1 1 GPX8|CCDS34156.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CDC20B|CCDS3966.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 2 4 2 15 14 15 14 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760357787 5 54837733 TA T 300 PASS - - - - - Del - D 54837733 54837742 1 6 270.047 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 0 5 1 6 7 29 7 29 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760357953 5 55239598 GA G 329 PASS IL6ST CCDS3971.1 r.? - - Del intronic D 55239598 55239608 1 15 322.852 - - 9 1 1 IL6ST|CCDS3971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL6ST|CCDS3971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 4 5 4 31 23 31 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760358050 5 55445563 GT G 360 PASS ANKRD55 CCDS34161.1 r.? - - Del intronic D 55445563 55445573 1 16 323.454 - - 9 1 1 ANKRD55|CCDS34161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD55|CCDS34161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 4 5 19 30 19 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760358191 5 55852303 CAGA C 360 PASS ENSG00000225940 ENST00000438651 r.? - - Del intronic D 55852303 55852309 3 7 324.056 - - 1 1 1 ENSG00000225940|ENST00000438651|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000225940|ENST00000438651|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 0 6 0 6 27 28 27 28 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760358233 5 55967912 AAAT A 300 PASS - - - - - Del - D 55967912 55967924 3 12 270.047 - - 3 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 3 2 4 13 16 13 16 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760358570 5 56895089 G GT 480 PASS - - - - - Ins - I 56895089 56895099 1 24 426.657 - - 9 1 1 - - ./. 0 0 0 0 20 22 20 22 0 0 ./. 3 5 5 8 35 30 35 30 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760358633 5 57134916 T TA 660 PASS - - - - - Ins - I 57134916 57134924 1 30 587.481 - - 7 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 9 2 11 3 30 3 30 2 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760358851 5 57901060 G GT 420 PASS RAB3C CCDS3976.1 r.? - - Ins intronic I 57901060 57901068 1 20 373.851 - - 7 1 1 RAB3C|CCDS3976.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAB3C|CCDS3976.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 4 3 5 22 25 22 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760358958 5 58244369 AT A 780 PASS - - - - - Del - D 58244369 58244376 1 56 700.918 - - 6 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 6 7 6 7 33 25 33 25 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359049 5 58484377 TA T 360 PASS PDE4D CCDS47213.1 r.? - - Del intronic D 58484377 58484387 1 15 324.056 - - 9 1 1 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 6 3 30 30 30 30 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359176 5 58991435 AT A 600 PASS PDE4D CCDS47213.1 r.? - - Del intronic D 58991435 58991444 1 35 537.686 - - 8 1 1 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 6 4 6 24 30 24 30 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359222 5 59173698 CA C 269 PASS PDE4D CCDS47213.1 r.? - - Del intronic D 59173698 59173706 1 12 270.047 - - 7 1 1 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 3 4 4 27 22 27 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359265 5 59326290 C CA 269 PASS PDE4D CCDS47032.1 r.? - - Ins intronic I 59326290 59326298 1 12 264.026 - - 7 1 1 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 18 11 0 0 ./. 2 3 2 4 12 26 12 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359289 5 59442531 CA C 300 PASS PDE4D CCDS47032.1 r.? - - Del intronic D 59442531 59442538 1 10 270.047 - - 6 1 1 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 1 4 1 24 23 24 23 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359400 5 59980793 CA C 360 PASS DEPDC1B CCDS3977.1 r.? - - Del intronic D 59980793 59980801 1 12 324.056 - - 7 1 1 DEPDC1B|CCDS3977.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DEPDC1B|CCDS3977.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 5 1 7 2 24 16 24 16 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359508 5 60489497 AT A 420 PASS - - - - - Del - D 60489497 60489505 1 20 375.055 - - 7 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 4 4 4 15 34 15 34 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359509 5 60508295 TA T 300 PASS - - - - - Del - D 60508295 60508304 1 12 267.037 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 2 4 3 24 26 24 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359681 5 61216541 AT A 420 PASS - - - - - Del - D 61216541 61216549 1 18 378.066 - - 7 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 5 3 5 28 25 28 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359751 5 61527832 AC A 480 PASS - - - - - Del - D 61527832 61527838 1 21 432.075 - - 5 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 6 3 7 7 29 7 29 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359891 5 61906589 CT C 480 PASS IPO11 CCDS34167.1 r.? - - Del intronic D 61906589 61906599 1 24 431.473 - - 9 1 1 IPO11|CCDS34167.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IPO11|CCDS34167.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 3 5 3 6 26 27 26 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359893 5 61919870 G GT 366 PASS IPO11 CCDS34167.1 r.? - - Ins intronic I 61919870 61919879 1 18 373.851 - - 8 1 1 IPO11|CCDS34167.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IPO11|CCDS34167.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 12 20 12 0 0 ./. 5 2 7 2 21 26 21 26 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760359915 5 61993762 G GA 420 PASS - - - - - Ins - I 61993762 61993771 1 20 373.851 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 4 4 6 33 33 33 33 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360104 5 62732988 C CA 360 PASS - - - - - Ins - I 62732988 62732998 1 15 320.444 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 4 4 4 25 12 25 12 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360131 5 62807073 TA T 352 PASS - - - - - Del - D 62807073 62807079 1 16 324.056 - - 5 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 3 4 4 33 23 33 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360249 5 63310103 CA C 540 PASS - - - - - Del - D 63310103 63310113 1 30 486.085 - - 9 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 4 5 4 23 22 23 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360286 5 63585694 G GT 360 PASS RNF180 CCDS47219.1 r.? - - Ins intronic I 63585694 63585703 1 12 320.444 - - 8 1 1 RNF180|CCDS47219.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF180|CCDS47219.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 5 1 7 2 35 20 35 20 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360339 5 63827790 GT G 480 PASS RGS7BP CCDS34170.1 r.? - - Del intronic D 63827790 63827800 1 21 432.075 - - 9 1 1 RGS7BP|CCDS34170.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS7BP|CCDS34170.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 6 2 7 5 36 22 36 22 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360347 5 63841981 AAAAAC A 269 PASS RGS7BP CCDS34170.1 r.? - - Del intronic D 63841981 63842011 5 10 270.047 - - 5 1 - RGS7BP|CCDS34170.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS7BP|CCDS34170.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 4 1 4 21 24 21 24 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360372 5 63933693 A AG 329 PASS - - - - - Ins - I 63933693 63933700 1 16 319.842 - - 6 1 1 - - ./. 0 0 0 0 17 15 17 16 0 0 ./. 3 3 5 2 21 36 21 36 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360477 5 64213861 GA G 300 PASS CWC27 CCDS3982.2 r.? - - Del intronic D 64213861 64213871 1 12 258.608 - - 9 1 1 CWC27|CCDS3982.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CWC27|CCDS3982.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 2 3 2 5 13 24 13 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360514 5 64331099 CCT C 420 PASS - - - - - Del - D 64331099 64331109 2 18 372.647 - - 4 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 2 5 5 6 27 27 27 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360562 5 64625848 AT A 360 PASS ADAMTS6 CCDS3983.2 r.? - - Del intronic D 64625848 64625857 1 12 324.056 - - 8 1 1 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 1 6 1 15 8 15 8 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360569 5 64665289 CT C 360 PASS ADAMTS6 CCDS3983.2 r.? - - Del intronic D 64665289 64665299 1 16 324.056 - - 9 1 1 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 3 3 4 9 36 9 36 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360597 5 64796664 AT A 358 PASS - - - - - Del - D 64796664 64796671 1 20 371.443 - - 6 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 3 7 4 31 29 31 29 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360617 5 64830345 C CA 600 PASS CENPK CCDS3984.1 r.? - - Ins intronic I 64830345 64830353 1 20 534.073 - - 7 1 1 CENPK|CCDS3984.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CENPK|CCDS3984.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 9 1 11 1 38 21 38 21 11 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360656 5 64980388 CT C 420 PASS SGTB CCDS3988.1 r.? - - Del intronic D 64980388 64980398 1 18 378.066 - - 9 1 1 SGTB|CCDS3988.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGTB|CCDS3988.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 5 4 5 31 25 31 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360841 5 65633226 TC T 300 PASS AC092373.1 ENST00000510964 r.? - - Del intronic D 65633226 65633235 1 12 270.047 - - 8 1 1 AC092373.1|ENST00000510964|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC092373.1|ENST00000510964|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 4 4 25 26 25 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360860 5 65750580 GT G 300 PASS AC092373.1 ENST00000510964 r.? - - Del intronic D 65750580 65750588 1 10 270.047 - - 7 1 1 AC092373.1|ENST00000510964|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC092373.1|ENST00000510964|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 1 5 5 21 29 21 29 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760360871 5 65768808 CT C 480 PASS AC092373.1 ENST00000510964 r.? - - Del intronic D 65768808 65768818 1 25 432.075 - - 9 1 1 AC092373.1|ENST00000510964|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC092373.1|ENST00000510964|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 4 6 5 43 35 43 35 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361100 5 66363558 TA T 480 PASS MAST4 CCDS47225.1 r.? - - Del intronic D 66363558 66363568 1 25 432.075 - - 9 1 1 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 4 6 5 27 25 27 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361236 5 66873984 GA G 420 PASS - - - - - Del - D 66873984 66873994 1 20 374.453 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 3 5 6 19 27 19 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361242 5 66884254 CA C 600 PASS - - - - - Del - D 66884254 66884262 1 32 540.094 - - 7 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 7 3 7 25 23 25 23 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361276 5 66996230 CT C 780 PASS - - - - - Del - D 66996230 66996239 1 50 700.316 - - 8 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 9 4 11 31 32 31 32 4 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361424 5 67579852 GA G 420 PASS PIK3R1 CCDS3993.1 r.? - - Del intronic D 67579852 67579861 1 20 378.066 - - 8 1 1 PIK3R1|CCDS3993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIK3R1|CCDS3993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 3 6 32 30 32 30 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361506 5 67883230 T TA 540 PASS - - - - - Ins - I 67883230 67883239 1 30 480.666 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 5 4 5 30 28 30 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361591 5 68162150 CA C 300 PASS - - - - - Del - D 68162150 68162160 1 12 267.037 - - 9 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 3 5 21 30 21 30 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361612 5 68280395 G GA 300 PASS - - - - - Ins - I 68280395 68280402 1 10 267.037 - - 6 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 1 4 2 26 22 26 23 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361742 5 68460216 CAT C 300 PASS CCNB1 CCDS3997.1 r.? - - Del upstream D 68460216 68460221 2 10 270.047 - - 2 1 1 CCNB1|CCDS3997.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CCNB1|CCDS3997.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 1 14 1 0 0 ./. 4 1 5 2 26 4 26 4 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361755 5 68487888 AT A 360 PASS CENPH CCDS3998.1 r.? - - Del intronic D 68487888 68487897 1 15 324.056 - - 8 1 1 CENPH|CCDS3998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CENPH|CCDS3998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 2 5 2 18 14 18 14 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361869 5 68683103 TA T 300 PASS RAD17 CCDS4004.1 r.? - - Del intronic D 68683103 68683113 1 12 270.047 - - 9 1 1 RAD17|CCDS4004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAD17|CCDS4004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 2 3 5 26 27 26 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760361941 5 68790399 CT C 420 PASS OCLN CCDS4006.1 r.? - - Del intronic D 68790399 68790409 1 20 377.464 - - 9 1 1 OCLN|CCDS4006.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 OCLN|CCDS4006.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 3 5 4 27 22 27 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760362231 5 71120804 GT G 300 PASS - - - - - Del - D 71120804 71120813 1 6 269.445 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 0 8 0 30 5 30 5 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760362268 5 71216856 A AT 420 PASS - - - - - Ins - I 71216856 71216864 1 20 373.851 - - 7 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 4 4 5 23 25 23 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760362614 5 72491220 GA G 360 PASS - - - - - Del - D 72491220 72491230 1 16 321.046 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 3 4 3 19 27 19 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760362658 5 72665735 GC G 360 PASS - - - - - Del - D 72665735 72665741 1 16 324.056 - - 5 1 1 - - ./. 0 0 0 0 20 7 20 7 0 0 ./. 3 3 5 4 23 17 23 17 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760362718 5 72859797 GT G 360 PASS UTP15 CCDS34186.1 r.? - - Del upstream D 72859797 72859799 1 16 324.056 - - 1 1 1 UTP15|CCDS34186.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ANKRA2|CCDS4020.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 3 4 5 34 24 34 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760362918 5 73540289 TA T 360 PASS - - - - - Del - D 73540289 73540297 1 15 324.056 - - 7 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 2 4 2 22 9 22 9 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760362944 5 73675338 T TA 420 PASS - - - - - Ins - I 73675338 73675345 1 18 373.851 - - 6 1 1 - - ./. 0 0 0 0 8 20 8 20 0 0 ./. 5 2 6 2 21 26 21 26 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760362992 5 73806714 TA T 360 PASS - - - - - Del - D 73806714 73806722 1 16 324.056 - - 7 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 3 3 3 26 22 26 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363007 5 73839503 GA G 300 PASS - - - - - Del - D 73839503 73839505 1 12 270.047 - - 1 1 1 - - ./. 0 0 0 0 14 4 14 4 0 0 ./. 2 3 2 3 21 17 21 17 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363056 5 73976373 A AT 420 PASS HEXB CCDS4022.1 r.? - - Ins upstream I 73976373 73976379 1 18 373.851 - - 5 1 1 HEXB|CCDS4022.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 HEXB|ENST00000511181|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 5 3 6 26 41 26 41 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363066 5 74012566 A AT 360 PASS GFM2 CCDS4023.1 r.? - - Ins downstream I 74012566 74012573 1 15 320.444 - - 6 1 1 GFM2|CCDS4023.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 HEXB|CCDS4022.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 11 11 0 0 ./. 4 2 4 3 32 26 32 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363073 5 74057973 C CA 300 PASS GFM2 CCDS4023.1 r.? - - Ins intronic I 74057973 74057983 1 12 267.037 - - 9 1 1 GFM2|CCDS4023.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GFM2|CCDS4023.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 14 0 0 ./. 3 2 3 5 26 31 27 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363086 5 74135163 TG T 360 PASS FAM169A CCDS43330.1 r.? - - Del intronic D 74135163 74135171 1 15 324.056 - - 7 1 1 FAM169A|CCDS43330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM169A|CCDS43330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 2 6 2 20 20 20 20 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363093 5 74162533 CG C 360 PASS FAM169A CCDS43330.1 r.? - - Del intronic D 74162533 74162539 1 16 324.056 - - 5 1 1 FAM169A|CCDS43330.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM169A|CCDS43330.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 3 3 4 5 30 30 30 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363141 5 74334897 GT G 420 PASS - - - - - Del - D 74334897 74334907 1 20 378.066 - - 9 1 - - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 3 4 4 25 22 25 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363169 5 74508827 C CA 720 PASS ANKRD31 CCDS47233.1 r.? - - Ins intronic I 74508827 74508834 1 48 640.888 - - 6 1 1 ANKRD31|CCDS47233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKRD31|CCDS47233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 10 0 0 ./. 5 7 5 7 31 29 31 29 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363217 5 74754818 CT C 300 PASS COL4A3BP CCDS47235.1 r.? - - Del intronic D 74754818 74754828 1 10 270.047 - - 9 1 1 COL4A3BP|CCDS47235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL4A3BP|CCDS47235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 5 2 22 12 22 12 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363219 5 74787337 CA C 360 PASS COL4A3BP CCDS47235.1 r.? - - Del intronic D 74787337 74787347 1 15 324.056 - - 9 1 1 COL4A3BP|CCDS47235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL4A3BP|CCDS47235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 4 4 7 30 28 30 28 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363256 5 74985877 AT A 300 PASS C5orf37 CCDS47236.1 r.? - - Del intronic D 74985877 74985885 1 6 270.047 - - 7 1 1 C5orf37|CCDS47236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C5orf37|CCDS47236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 5 0 5 0 17 4 17 4 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363268 5 75060535 GT G 300 PASS - - - - - Del - D 75060535 75060544 1 6 270.047 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 0 5 0 28 3 28 3 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363308 5 75291747 GA G 339 PASS - - - - - Del - D 75291747 75291755 1 20 378.066 - - 7 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 3 4 3 6 23 18 23 18 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363353 5 75510835 CT C 300 PASS SV2C ENST00000502798 r.? - - Del intronic D 75510835 75510843 1 10 270.047 - - 7 1 1 SV2C|ENST00000502798|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SV2C|ENST00000502798|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 1 4 4 5 25 28 25 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363411 5 75671071 AC A 389 PASS - - - - - Del - D 75671071 75671078 1 18 378.066 - - 6 1 1 - - ./. 0 0 0 0 4 8 4 9 0 0 ./. 2 5 5 5 28 28 28 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363482 5 75828180 GA G 360 PASS IQGAP2 CCDS34188.1 r.? - - Del intronic D 75828180 75828189 1 16 324.056 - - 8 1 1 IQGAP2|CCDS34188.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IQGAP2|CCDS34188.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 3 4 3 17 25 17 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363542 5 76011232 CG C 300 PASS F2R CCDS4032.1 r.? - - Del upstream D 76011232 76011240 1 12 265.833 - - 7 1 1 F2R|CCDS4032.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 F2R|CCDS4032.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 5 3 25 16 25 16 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363817 5 76872965 G GA 300 PASS WDR41 ENST00000509971 r.? - - Ins intronic I 76872965 76872973 1 10 267.037 - - 7 1 1 WDR41|ENST00000509971|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR41|ENST00000509971|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 1 4 3 17 21 17 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363826 5 76892292 GA G 420 PASS WDR41 ENST00000509971 r.? - - Del intronic D 76892292 76892301 1 18 378.066 - - 8 1 1 WDR41|ENST00000509971|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR41|ENST00000509971|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 19 3 19 0 0 ./. 5 2 5 6 33 29 33 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363869 5 77066563 GAA G 420 PASS TBCA CCDS4040.1 r.? - - Del intronic D 77066563 77066572 2 20 378.066 - - 8 1 1 TBCA|CCDS4040.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBCA|CCDS4040.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 4 1 0 28 21 28 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363891 5 77121319 G GT 420 PASS - - - - - Ins - I 77121319 77121329 1 20 371.443 - - 9 1 1 - - ./. 0 0 0 0 9 18 9 19 0 0 ./. 4 3 5 4 25 23 25 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760363935 5 77259697 A AT 360 PASS - - - - - Ins - I 77259697 77259706 1 7 320.444 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 0 6 3 25 32 25 32 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760364007 5 77504919 TAC T 360 PASS AP3B1 CCDS4041.1 r.? - - Del intronic D 77504919 77504938 2 15 322.25 - - 9 1 1 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 2 5 2 34 7 34 7 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760364010 5 77533637 CA C 300 PASS AP3B1 CCDS4041.1 r.? - - Del intronic D 77533637 77533647 1 10 269.445 - - 9 1 1 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 1 4 1 4 25 20 25 20 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760364309 5 78346898 CT C 300 PASS DMGDH CCDS4044.1 r.? - - Del intronic D 78346898 78346906 1 12 270.047 - - 7 1 1 DMGDH|CCDS4044.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMGDH|CCDS4044.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 2 5 4 27 21 27 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760364593 5 79283947 GT G 329 PASS MTX3 ENST00000430564 r.? - - Del intronic D 79283947 79283956 1 15 324.056 - - 8 1 1 MTX3|ENST00000430564|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTX3|ENST00000430564|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 4 4 6 35 32 35 32 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760364863 5 79980744 GT G 329 PASS MSH3 CCDS34195.1 r.? - - Del intronic D 79980744 79980754 1 15 324.056 - - 9 1 1 MSH3|CCDS34195.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSH3|CCDS34195.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 4 2 5 19 15 19 15 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760364982 5 80264676 AT A 269 PASS RASGRF2 CCDS4052.1 r.? - - Del intronic D 80264676 80264686 1 12 270.047 - - 9 1 1 RASGRF2|CCDS4052.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASGRF2|CCDS4052.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 2 3 2 17 27 17 27 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365104 5 80651873 AC A 360 PASS ACOT12 CCDS4055.1 r.? - - Del intronic D 80651873 80651880 1 12 321.648 - - 6 1 1 ACOT12|CCDS4055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACOT12|CCDS4055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 5 1 6 22 33 22 33 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365335 5 81506440 A AT 360 PASS ATG10 CCDS4057.1 r.? - - Ins intronic I 81506440 81506450 1 15 320.444 - - 9 1 1 ATG10|CCDS4057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATG10|CCDS4057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 2 8 3 20 25 20 26 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365407 5 81754098 CA C 360 PASS - - - - - Del - D 81754098 81754106 1 7 324.056 - - 7 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 6 0 8 0 32 4 32 4 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365446 5 81916624 CA C 480 PASS - - - - - Del - D 81916624 81916633 1 24 432.075 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 3 6 3 23 31 23 31 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365448 5 81918662 CA C 420 PASS - - - - - Del - D 81918662 81918671 1 20 378.066 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 3 4 4 34 18 34 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365456 5 81953446 CT C 300 PASS - - - - - Del - D 81953446 81953454 1 12 270.047 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 2 5 24 24 24 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365488 5 82028279 CA C 329 PASS - - - - - Del - D 82028279 82028289 1 16 324.056 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 3 4 4 26 25 26 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365505 5 82071363 GA G 300 PASS - - - - - Del - D 82071363 82071373 1 10 270.047 - - 9 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 1 5 3 28 25 28 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365562 5 82220637 G GT 329 PASS - - - - - Ins - I 82220637 82220644 1 12 313.821 - - 6 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 1 5 5 6 26 27 27 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365602 5 82380173 CT C 420 PASS XRCC4 CCDS4058.1 r.? - - Del intronic D 82380173 82380179 1 18 378.066 - - 5 1 1 XRCC4|CCDS4058.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 XRCC4|CCDS4058.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 5 3 6 25 23 25 23 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365714 5 82676593 GA G 360 PASS - - - - - Del - D 82676593 82676602 1 15 324.056 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 2 4 3 31 28 31 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365831 5 83040800 CAGA C 600 PASS - - - - - Del - D 83040800 83040806 3 32 540.094 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 7 3 8 3 30 31 30 31 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760365905 5 83360953 C CT 420 PASS EDIL3 CCDS4062.1 r.? - - Ins intronic I 83360953 83360961 1 20 373.851 - - 7 1 1 EDIL3|CCDS4062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EDIL3|CCDS4062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 4 4 4 18 29 18 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760366130 5 84259945 T TA 449 PASS - - - - - Ins - I 84259945 84259955 1 24 427.259 - - 9 1 1 - - ./. 0 0 0 0 19 14 20 14 0 0 ./. 5 3 7 5 28 16 28 16 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760366204 5 84466614 C CA 420 PASS - - - - - Ins - I 84466614 84466623 1 20 373.249 - - 8 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 4 3 7 3 27 19 28 19 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760366575 5 85523359 AT A 300 PASS - - - - - Del - D 85523359 85523369 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 2 6 2 19 4 19 4 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760366751 5 86101125 AG A 300 PASS - - - - - Del - D 86101125 86101134 1 12 270.047 - - 8 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 3 5 20 18 20 18 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760366823 5 86399901 AT A 360 PASS - - - - - Del - D 86399901 86399910 1 15 324.056 - - 8 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 4 2 4 2 21 10 21 10 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760366902 5 86761082 CT C 360 PASS - - - - - Del - D 86761082 86761091 1 15 324.056 - - 8 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 2 4 3 5 27 16 27 16 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760366912 5 86828467 TA T 480 PASS - - - - - Del - D 86828467 86828472 1 21 431.473 - - 4 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 6 4 7 22 27 22 27 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760366924 5 87009138 GA G 540 PASS - - - - - Del - D 87009138 87009148 1 28 486.085 - - 9 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 3 10 3 27 14 27 14 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760366966 5 87241120 CT C 360 PASS - - - - - Del - D 87241120 87241130 1 15 324.056 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 4 5 6 29 19 29 19 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760366976 5 87283263 C CT 300 PASS - - - - - Ins - I 87283263 87283273 1 6 267.037 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 0 5 0 5 4 25 4 26 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760366985 5 87314636 GA G 300 PASS - - - - - Del - D 87314636 87314646 1 10 270.047 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 1 5 2 34 19 34 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367012 5 87459069 CT C 360 PASS - - - - - Del - D 87459069 87459079 1 15 324.056 - - 9 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 4 2 5 3 24 19 24 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367029 5 87512027 CACA C 300 PASS TMEM161B CCDS4065.1 r.? - - Del intronic D 87512027 87512036 3 10 270.047 - - 2 1 1 TMEM161B|CCDS4065.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM161B|CCDS4065.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 1 4 1 35 21 35 21 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367067 5 87835374 C CA 300 PASS - - - - - Ins - I 87835374 87835382 1 12 265.833 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 5 5 35 26 35 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367179 5 88313003 AT A 360 PASS - - - - - Del - D 88313003 88313012 1 15 324.056 - - 8 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 4 2 4 2 15 24 15 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367263 5 88788047 CA C 420 PASS - - - - - Del - D 88788047 88788055 1 14 378.066 - - 7 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 1 6 1 6 19 27 19 27 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367285 5 88867712 TA T 420 PASS - - - - - Del - D 88867712 88867720 1 14 377.464 - - 7 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 6 1 8 2 26 16 26 16 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367436 5 89498894 CA C 300 PASS - - - - - Del - D 89498894 89498903 1 12 270.047 - - 8 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 3 2 4 3 20 28 20 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367437 5 89501879 CAAA C 300 PASS - - - - - Del - D 89501879 89501883 3 10 270.047 - - 3 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 4 1 7 2 25 20 25 20 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367446 5 89555725 CT C 360 PASS - - - - - Del - D 89555725 89555735 1 12 324.056 - - 9 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 5 1 5 16 24 16 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367538 5 89863992 GT G 300 PASS GPR98 CCDS47246.1 r.? - - Del intronic D 89863992 89864000 1 12 270.047 - - 7 1 1 GPR98|CCDS47246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR98|CCDS47246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 3 2 4 15 14 15 14 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367615 5 90236815 CT C 540 PASS GPR98 CCDS47246.1 r.? - - Del intronic D 90236815 90236822 1 30 486.085 - - 6 1 1 GPR98|CCDS47246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR98|CCDS47246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 5 4 5 6 24 37 24 37 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367679 5 90392440 AT A 420 PASS GPR98 CCDS47246.1 r.? - - Del intronic D 90392440 90392450 1 18 378.066 - - 9 1 1 GPR98|CCDS47246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR98|CCDS47246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 5 2 6 3 21 27 21 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367824 5 90810030 A AT 600 PASS - - - - - Ins - I 90810030 90810037 1 32 534.073 - - 6 1 1 - - ./. 0 0 0 0 8 16 8 17 0 0 ./. 7 3 7 3 26 24 26 24 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367929 5 91411736 AT A 360 PASS - - - - - Del - D 91411736 91411745 1 15 323.454 - - 8 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 2 4 2 5 28 32 28 32 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367965 5 91604489 TC T 420 PASS - - - - - Del - D 91604489 91604491 1 20 378.066 - - 1 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 3 4 5 4 23 25 23 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367976 5 91720487 CT C 300 PASS - - - - - Del - D 91720487 91720496 1 12 270.047 - - 8 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 3 3 3 20 27 20 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760367995 5 91773851 CA C 420 PASS - - - - - Del - D 91773851 91773860 1 20 378.066 - - 8 1 1 - - ./. 0 0 0 0 9 22 9 22 0 0 ./. 4 3 6 4 15 26 15 26 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368068 5 92254707 GA G 300 PASS - - - - - Del - D 92254707 92254717 1 6 270.047 - - 9 1 1 - - ./. 0 0 0 0 7 20 7 20 0 0 ./. 0 5 0 6 0 23 0 23 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368071 5 92296347 TA T 300 PASS - - - - - Del - D 92296347 92296356 1 10 270.047 - - 8 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 1 5 1 11 21 11 21 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368080 5 92348071 GA G 420 PASS - - - - - Del - D 92348071 92348077 1 20 378.066 - - 5 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 4 4 4 25 17 25 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368115 5 92542365 C CA 300 PASS - - - - - Ins - I 92542365 92542370 1 12 267.037 - - 4 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 2 3 5 10 27 10 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368135 5 92614115 G GA 360 PASS - - - - - Ins - I 92614115 92614124 1 12 320.444 - - 8 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 5 2 6 14 33 14 33 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368174 5 92802004 AT A 329 PASS - - - - - Del - D 92802004 92802012 1 12 323.454 - - 7 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 5 1 5 23 19 23 19 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368192 5 92896660 AT A 300 PASS - - - - - Del - D 92896660 92896666 1 10 270.047 - - 5 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 1 5 2 23 6 23 6 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368198 5 92921929 AT A 480 PASS NR2F1 CCDS4068.1 r.? - - Del intronic D 92921929 92921938 1 25 432.075 - - 8 1 1 NR2F1|CCDS4068.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NR2F1|CCDS4068.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 4 4 5 23 29 23 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368212 5 92978398 AT A 420 PASS MIR2277 CCDS4069.1 r.? - - Del intronic D 92978398 92978408 1 20 378.066 - - 9 1 1 MIR2277|CCDS4069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR2277|CCDS4069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 3 4 5 14 25 14 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368270 5 93298247 GA G 300 PASS MIR2277 CCDS4069.1 r.? - - Del intronic D 93298247 93298256 1 10 268.843 - - 8 1 1 MIR2277|CCDS4069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR2277|CCDS4069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 1 4 2 21 23 21 23 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368303 5 93454666 TA T 300 PASS - - - - - Del - D 93454666 93454676 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 2 4 2 30 22 30 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368310 5 93480803 GCAAA G 300 PASS - - - - - Del - D 93480803 93480810 4 12 270.047 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 2 4 2 16 27 16 27 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368317 5 93514848 CA C 480 PASS C5orf36 ENST00000513200 r.? - - Del intronic D 93514848 93514855 1 24 431.473 - - 6 1 1 C5orf36|ENST00000513200|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C5orf36|ENST00000513200|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 5 3 5 25 18 25 18 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368332 5 93654594 A AT 540 PASS C5orf36 ENST00000513200 r.? - - Ins intronic I 93654594 93654602 1 28 480.666 - - 7 1 1 C5orf36|ENST00000513200|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C5orf36|ENST00000513200|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 3 6 5 27 31 27 31 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368396 5 94023236 TA T 360 PASS ANKRD32 CCDS4071.2 r.? - - Del intronic D 94023236 94023245 1 16 324.056 - - 8 1 1 ANKRD32|CCDS4071.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD32|CCDS4071.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 3 3 5 3 22 10 22 10 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368502 5 94369917 GA G 300 PASS MCTP1 CCDS47247.1 r.? - - Del intronic D 94369917 94369927 1 10 270.047 - - 9 1 1 MCTP1|CCDS47247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCTP1|CCDS47247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 1 4 2 6 12 21 12 21 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368521 5 94445946 CT C 540 PASS MCTP1 ENST00000515393 r.? - - Del intronic D 94445946 94445955 1 28 484.278 - - 8 1 1 MCTP1|ENST00000515393|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCTP1|ENST00000515393|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 6 4 6 22 24 22 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368557 5 94616354 AT A 300 PASS MCTP1 ENST00000515393 r.? - - Del intronic D 94616354 94616364 1 10 270.047 - - 9 1 1 MCTP1|ENST00000515393|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCTP1|ENST00000515393|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 1 5 1 32 7 32 7 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368613 5 94868676 GA G 420 PASS TTC37 CCDS4072.1 r.? - - Del intronic D 94868676 94868684 1 18 378.066 - - 7 1 1 TTC37|CCDS4072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC37|CCDS4072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 2 8 2 26 12 26 12 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368725 5 95431523 TA T 480 PASS - - - - - Del - D 95431523 95431533 1 21 432.075 - - 9 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 6 2 6 2 40 9 40 9 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368750 5 95588776 T TA 480 PASS - - - - - Ins - I 95588776 95588784 1 21 427.259 - - 7 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 2 6 2 38 16 38 16 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368771 5 95708718 A AT 420 PASS - - - - - Ins - I 95708718 95708728 1 20 373.851 - - 9 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 4 3 6 4 29 23 29 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368775 5 95721880 A AT 420 PASS PCSK1 CCDS4081.1 r.? - - Ins downstream I 95721880 95721890 1 20 373.851 - - 9 1 1 PCSK1|CCDS4081.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 PCSK1|CCDS4081.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 8 10 9 11 0 0 ./. 3 4 5 4 21 27 22 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368809 5 95816970 TA T 360 PASS - - - - - Del - D 95816970 95816979 1 15 321.648 - - 8 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 2 4 2 5 15 27 15 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760368812 5 95824071 TA T 300 PASS - - - - - Del - D 95824071 95824081 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 2 5 3 24 20 24 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369087 5 96494222 TG T 480 PASS RIOK2 CCDS4089.1 r.? - - Del downstream D 96494222 96494228 1 25 432.075 - - 5 1 1 RIOK2|CCDS4089.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000251606|ENST00000509481|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 4 6 5 22 33 22 33 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369226 5 96869206 TA T 420 PASS - - - - - Del - D 96869206 96869215 1 20 378.066 - - 8 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 4 3 4 5 26 27 26 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369271 5 97136909 AT A 360 PASS - - - - - Del - D 97136909 97136919 1 12 324.056 - - 9 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 1 5 1 30 4 30 4 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369391 5 97459516 T TA 480 PASS - - - - - Ins - I 97459516 97459519 1 24 425.452 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 5 4 7 26 33 27 34 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369426 5 97601980 AT A 300 PASS - - - - - Del - D 97601980 97601986 1 12 270.047 - - 5 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 2 4 2 23 25 23 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369485 5 97854485 C CAT 300 PASS - - - - - Ins - I 97854485 97854496 2 12 264.026 - - 5 1 1 - - ./. 0 0 0 0 12 19 14 19 0 0 ./. 3 2 3 4 13 22 13 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369487 5 97862974 AT A 420 PASS - - - - - Del - D 97862974 97862983 1 20 378.066 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 3 5 4 24 28 24 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369508 5 97909115 GT G 360 PASS - - - - - Del - D 97909115 97909124 1 15 324.056 - - 8 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 2 5 4 13 22 13 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369670 5 98557758 TC T 720 PASS - - - - - Del - D 98557758 98557765 1 45 648.113 - - 6 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 8 5 10 25 26 25 26 5 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369790 5 98950475 TA T 540 PASS - - - - - Del - D 98950475 98950485 1 30 484.88 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 5 5 6 30 34 30 34 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369854 5 99149779 CA C 360 PASS - - - - - Del - D 99149779 99149788 1 15 324.056 - - 8 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 4 2 4 2 10 19 10 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760369939 5 99608452 CA C 360 PASS - - - - - Del - D 99608452 99608462 1 12 324.056 - - 9 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 1 5 4 7 21 31 21 31 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760370225 5 100890953 CA C 336 PASS - - - - - Del - D 100890953 100890963 1 15 324.056 - - 9 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 4 2 5 3 39 27 39 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760370365 5 101394898 CA C 480 PASS - - - - - Del - D 101394898 101394907 1 21 430.871 - - 8 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 6 2 7 24 21 24 21 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760370374 5 101419241 CA C 480 PASS - - - - - Del - D 101419241 101419250 1 24 430.871 - - 8 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 5 4 5 17 32 17 32 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760370685 5 102725903 TTC T 360 PASS - - - - - Del - D 102725903 102725919 2 15 324.056 - - 7 1 - - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 2 6 3 26 27 26 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760370889 5 103350082 A AT 300 PASS - - - - - Ins - I 103350082 103350091 1 12 267.037 - - 8 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 3 3 4 27 22 27 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760370947 5 103583688 TA T 300 PASS - - - - - Del - D 103583688 103583698 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 19 23 19 23 0 0 ./. 3 2 3 2 13 21 13 21 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760370952 5 103606907 AT A 420 PASS - - - - - Del - D 103606907 103606917 1 18 378.066 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 2 5 2 27 20 27 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371023 5 103870867 CT C 300 PASS - - - - - Del - D 103870867 103870876 1 10 270.047 - - 8 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 1 4 2 5 29 31 29 31 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371129 5 104402351 CA C 360 PASS ENSG00000232402 ENST00000438939 r.? - - Del intronic D 104402351 104402361 1 16 324.056 - - 9 1 1 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 3 5 5 28 28 28 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371130 5 104406595 TA T 300 PASS ENSG00000232402 ENST00000438939 r.? - - Del intronic D 104406595 104406602 1 6 270.047 - - 6 1 1 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 0 5 1 6 3 33 3 33 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371293 5 105167186 CT C 360 PASS - - - - - Del - D 105167186 105167196 1 12 324.056 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 5 1 6 24 22 24 22 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371308 5 105235729 CA C 300 PASS - - - - - Del - D 105235729 105235739 1 6 270.047 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 0 5 0 6 4 32 4 32 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371330 5 105396279 CT C 420 PASS - - - - - Del - D 105396279 105396287 1 18 378.066 - - 7 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 5 2 6 2 23 26 23 26 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371388 5 105643244 TC T 360 PASS - - - - - Del - D 105643244 105643249 1 7 324.056 - - 4 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 0 6 0 7 1 34 1 34 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371417 5 105805036 AT A 480 PASS - - - - - Del - D 105805036 105805045 1 21 432.075 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 2 8 2 21 23 21 23 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371528 5 106203082 TA T 480 PASS - - - - - Del - D 106203082 106203092 1 24 432.075 - - 9 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 5 3 6 7 28 25 28 25 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371633 5 106529153 AT A 300 PASS - - - - - Del - D 106529153 106529163 1 10 270.047 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 1 4 3 30 21 30 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371634 5 106531166 G GA 276 PASS - - - - - Ins - I 106531166 106531176 1 10 266.435 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 1 5 1 25 18 25 18 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371770 5 107009629 TAA T 480 PASS EFNA5 CCDS4097.1 r.? - - Del upstream D 107009629 107009633 2 21 429.667 - - 3 1 1 EFNA5|CCDS4097.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 EFNA5|CCDS4097.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 6 3 7 31 39 31 39 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371794 5 107071466 AG A 300 PASS - - - - - Del - D 107071466 107071468 1 12 268.241 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 4 3 34 28 34 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371799 5 107084897 CT C 300 PASS - - - - - Del - D 107084897 107084903 1 12 270.047 - - 5 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 3 5 20 19 20 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371890 5 107439279 CA C 300 PASS FBXL17 ENST00000359660 r.? - - Del intronic D 107439279 107439289 1 12 269.445 - - 9 1 1 FBXL17|ENST00000359660|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXL17|ENST00000359660|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 6 2 27 13 27 13 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760371996 5 107853475 CT C 269 PASS - - - - - Del - D 107853475 107853484 1 12 270.047 - - 8 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 3 2 5 2 34 25 34 25 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372058 5 108028141 AT A 300 PASS - - - - - Del - D 108028141 108028147 1 10 269.445 - - 5 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 4 1 5 7 29 7 29 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372170 5 108429610 CT C 360 PASS FER CCDS4098.1 r.? - - Del intronic D 108429610 108429619 1 15 323.454 - - 8 1 1 FER|CCDS4098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FER|CCDS4098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 2 5 2 21 13 21 13 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372195 5 108525355 CT C 360 PASS FER CCDS4098.1 r.4933delU c.? p.? Del 3'UTR variant D 108525355 108525364 1 12 324.056 - - 8 1 1 FER|CCDS4098.1|r.4933delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 FER|CCDS4098.1|r.4933delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 5 2 6 19 31 19 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372261 5 108803643 CA C 360 PASS - - - - - Del - D 108803643 108803651 1 16 324.056 - - 7 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 3 4 5 25 35 25 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372451 5 109525018 CT C 300 PASS - - - - - Del - D 109525018 109525024 1 10 270.047 - - 5 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 1 4 2 30 32 30 32 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372455 5 109554123 AT A 360 PASS - - - - - Del - D 109554123 109554129 1 12 324.056 - - 5 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 1 7 2 33 24 33 24 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372522 5 110050314 TAC T 360 PASS TMEM232 CCDS47253.1 r.? - - Del intronic D 110050314 110050330 2 12 324.056 - - 7 1 1 TMEM232|CCDS47253.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TMEM232|CCDS47253.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 1 5 3 7 18 29 18 29 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372602 5 110443716 CA C 660 PASS WDR36 CCDS4102.1 r.? - - Del intronic D 110443716 110443725 1 40 594.103 - - 8 1 1 WDR36|CCDS4102.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR36|CCDS4102.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 4 7 6 7 26 26 26 26 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372677 5 110888014 G GA 420 PASS - - - - - Ins - I 110888014 110888020 1 18 373.851 - - 5 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 5 3 5 32 20 32 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372764 5 111155917 CA C 360 PASS C5orf13 CCDS47255.1 r.? - - Del intronic D 111155917 111155927 1 12 324.056 - - 9 1 1 C5orf13|CCDS47255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C5orf13|CCDS47255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 5 1 7 17 37 17 37 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372823 5 111486151 GA G 540 PASS EPB41L4A ENST00000359109 r.? - - Del intronic D 111486151 111486160 1 28 486.085 - - 8 1 1 EPB41L4A|ENST00000359109|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPB41L4A|ENST00000359109|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 6 3 7 24 42 24 42 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760372963 5 112061480 CA C 300 PASS APC CCDS4107.1 r.? - - Del intronic D 112061480 112061488 1 12 268.241 - - 7 1 1 APC|CCDS4107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 APC|CCDS4107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 2 3 3 30 18 30 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760373296 5 113043307 TA T 600 PASS - - - - - Del - D 113043307 113043315 1 36 538.288 - - 7 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 5 7 8 26 33 26 33 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760373377 5 113377779 AT A 300 PASS - - - - - Del - D 113377779 113377785 1 12 269.445 - - 5 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 3 4 3 17 19 17 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760373416 5 113553249 CA C 540 PASS - - - - - Del - D 113553249 113553258 1 30 486.085 - - 8 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 4 5 4 31 17 31 17 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760373428 5 113574535 AT A 360 PASS - - - - - Del - D 113574535 113574544 1 15 324.056 - - 8 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 4 2 4 2 25 19 25 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760373479 5 113692354 TA T 300 PASS KCNN2 ENST00000512097 r.? - - Del upstream D 113692354 113692362 1 12 267.639 - - 7 1 1 KCNN2|ENST00000512097|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KCNN2|ENST00000512097|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 2 4 3 18 24 18 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760373565 5 114051994 AT A 480 PASS - - - - - Del - D 114051994 114052002 1 24 431.473 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 5 4 5 30 15 30 15 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760373609 5 114281305 CT C 389 PASS - - - - - Del - D 114281305 114281312 1 20 378.066 - - 6 1 1 - - ./. 0 0 0 0 15 5 15 5 0 0 ./. 4 3 4 4 26 18 26 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760373936 5 115504734 CA C 300 PASS COMMD10 CCDS34215.1 r.? - - Del intronic D 115504734 115504744 1 12 270.047 - - 9 1 1 COMMD10|CCDS34215.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COMMD10|CCDS34215.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 6 2 23 20 23 20 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760373976 5 115749716 CA C 420 PASS - - - - - Del - D 115749716 115749725 1 20 378.066 - - 8 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 4 3 5 20 17 20 17 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760374273 5 116547474 T TA 300 PASS - - - - - Ins - I 116547474 116547481 1 12 267.037 - - 6 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 3 3 27 24 27 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760374414 5 116971964 CA C 360 PASS - - - - - Del - D 116971964 116971969 1 15 324.056 - - 4 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 2 6 2 27 25 27 25 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760374449 5 117072192 CT C 600 PASS - - - - - Del - D 117072192 117072198 1 32 540.094 - - 5 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 7 3 8 4 27 27 27 27 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760374455 5 117082693 GA G 300 PASS - - - - - Del - D 117082693 117082703 1 12 267.639 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 4 3 20 19 20 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760374568 5 117495460 GA G 420 PASS - - - - - Del - D 117495460 117495469 1 20 378.066 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 4 3 6 23 27 23 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760374578 5 117523275 C CA 480 PASS - - - - - Ins - I 117523275 117523282 1 21 426.657 - - 6 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 2 8 2 38 5 38 5 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760374608 5 117599044 GC G 600 PASS - - - - - Del - D 117599044 117599050 1 32 540.094 - - 5 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 3 7 3 8 20 28 20 28 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760374696 5 117840787 CA C 480 PASS ENSG00000232769 ENST00000428465 r.? - - Del intronic D 117840787 117840793 1 24 432.075 - - 5 1 1 ENSG00000232769|ENST00000428465|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000232769|ENST00000428465|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 5 3 5 3 25 22 25 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760374837 5 118354493 G GT 269 PASS - - - - - Ins - I 118354493 118354503 1 10 267.037 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 1 4 1 28 28 28 28 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760374900 5 118593761 CA C 300 PASS - - - - - Del - D 118593761 118593768 1 12 268.843 - - 6 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 3 2 25 23 25 23 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760374928 5 118677399 AT A 420 PASS TNFAIP8 CCDS47257.1 r.? - - Del intronic D 118677399 118677409 1 20 378.066 - - 9 1 1 TNFAIP8|CCDS47257.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNFAIP8|CCDS47257.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 4 5 5 25 24 25 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375046 5 119074659 A AT 300 PASS - - - - - Ins - I 119074659 119074666 1 12 267.037 - - 6 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 2 3 3 7 33 29 33 30 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375048 5 119082246 C CTG 420 PASS - - - - - Ins - I 119082246 119082261 2 20 369.637 - - 7 1 - - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 5 5 36 27 36 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375052 5 119108416 TA T 540 PASS - - - - - Del - D 119108416 119108425 1 24 486.085 - - 8 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 7 2 8 2 29 20 29 20 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375067 5 119171829 GT G 329 PASS - - - - - Del - D 119171829 119171837 1 15 319.842 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 4 2 5 17 23 17 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375145 5 119629052 AT A 480 PASS - - - - - Del - D 119629052 119629062 1 21 431.473 - - 9 1 1 - - ./. 0 0 0 0 10 25 10 25 0 0 ./. 6 2 7 2 24 23 24 23 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375156 5 119733227 TA T 540 PASS - - - - - Del - D 119733227 119733236 1 28 486.085 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 6 4 8 8 27 8 27 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375172 5 119857047 AT A 300 PASS PRR16 CCDS4127.1 r.? - - Del intronic D 119857047 119857054 1 12 270.047 - - 6 1 1 PRR16|CCDS4127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRR16|CCDS4127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 2 4 15 21 15 21 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375184 5 119908730 AT A 300 PASS PRR16 CCDS4127.1 r.? - - Del intronic D 119908730 119908738 1 12 270.047 - - 7 1 1 PRR16|CCDS4127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRR16|CCDS4127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 3 5 4 25 16 25 16 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375376 5 120786144 TA T 600 PASS - - - - - Del - D 120786144 120786152 1 36 540.094 - - 7 1 1 - - ./. 0 0 0 0 12 24 12 24 0 0 ./. 5 5 5 5 27 29 27 29 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375455 5 121096283 GA G 360 PASS - - - - - Del - D 121096283 121096290 1 12 321.648 - - 6 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 1 5 1 21 5 21 5 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375477 5 121247968 GT G 660 PASS - - - - - Del - D 121247968 121247976 1 36 594.103 - - 7 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 8 3 9 4 32 13 32 13 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375536 5 121471343 CA C 360 PASS ZNF474 CCDS4130.1 r.? - - Del intronic D 121471343 121471351 1 12 324.056 - - 7 1 1 ZNF474|CCDS4130.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF474|CCDS4130.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 1 7 1 33 10 33 10 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375554 5 121611974 CA C 454 PASS - - - - - Del - D 121611974 121611980 1 30 486.085 - - 5 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 4 5 4 5 27 35 27 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375616 5 121876186 TA T 480 PASS - - - - - Del - D 121876186 121876196 1 24 430.871 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 3 5 3 26 27 26 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375804 5 122336082 TATGA T 507 PASS SNX24 CCDS4132.1 r.? - - Del intronic D 122336082 122336091 4 36 540.094 - - 2 1 1 SNX24|CCDS4132.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX24|CCDS4132.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 5 6 5 19 16 19 16 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375905 5 122738191 G GC 660 PASS CEP120 CCDS4134.2 r.? - - Ins intronic I 122738191 122738199 1 40 579.654 - - 7 1 1 CEP120|CCDS4134.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CEP120|CCDS4134.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 7 6 9 29 37 29 38 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375927 5 122851340 G GA 300 PASS CSNK1G3 CCDS43355.1 r.? - - Ins intronic I 122851340 122851350 1 6 267.037 - - 9 1 1 CSNK1G3|CCDS43355.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CSNK1G3|CCDS43355.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 18 7 18 0 0 ./. 5 0 6 2 32 12 32 12 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375931 5 122865068 GT G 660 PASS CSNK1G3 CCDS43355.1 r.? - - Del intronic D 122865068 122865076 1 40 594.103 - - 7 1 1 CSNK1G3|CCDS43355.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CSNK1G3|CCDS43355.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 7 5 7 32 31 32 31 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375955 5 123005878 TA T 360 PASS - - - - - Del - D 123005878 123005888 1 12 324.056 - - 9 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 1 5 1 5 4 21 4 21 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760375981 5 123125201 T TA 600 PASS - - - - - Ins - I 123125201 123125205 1 35 534.073 - - 3 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 6 6 6 30 22 30 22 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760376117 5 123662326 T TG 480 PASS - - - - - Ins - I 123662326 123662333 1 24 427.259 - - 6 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 3 8 4 34 23 34 23 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760376288 5 124284446 GA G 360 PASS - - - - - Del - D 124284446 124284454 1 16 324.056 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 3 3 28 35 28 35 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760376332 5 124387349 GT G 360 PASS - - - - - Del - D 124387349 124387357 1 15 324.056 - - 7 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 4 4 5 24 25 24 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760376403 5 124586286 AC A 360 PASS - - - - - Del - D 124586286 124586293 1 12 324.056 - - 6 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 1 5 2 5 34 24 34 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760376482 5 124874613 GT G 300 PASS - - - - - Del - D 124874613 124874623 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 2 3 2 13 9 13 9 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760376545 5 125123666 CT C 300 PASS - - - - - Del - D 125123666 125123675 1 12 270.047 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 2 3 15 20 15 20 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760376625 5 125352011 A AAG 300 PASS - - - - - Ins - I 125352011 125352024 2 6 264.026 - - 6 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 0 5 0 5 12 24 12 24 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760376725 5 125611006 CA C 360 PASS - - - - - Del - D 125611006 125611016 1 12 324.056 - - 9 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 1 5 3 9 10 27 10 27 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760376787 5 125796694 AT A 300 PASS GRAMD3 CCDS4136.1 r.? - - Del intronic D 125796694 125796703 1 12 270.047 - - 8 1 1 GRAMD3|CCDS4136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRAMD3|CCDS4136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 2 3 3 4 34 26 34 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377044 5 126463117 GA G 360 PASS - - - - - Del - D 126463117 126463125 1 15 323.454 - - 7 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 4 3 4 9 23 9 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377067 5 126609043 GA G 300 PASS - - - - - Del - D 126609043 126609053 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 3 6 30 20 30 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377223 5 127270346 CA C 420 PASS - - - - - Del - D 127270346 127270355 1 8 378.066 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 7 0 8 0 36 3 36 3 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377268 5 127538266 A AT 360 PASS - - - - - Ins - I 127538266 127538274 1 15 320.444 - - 7 1 1 - - ./. 0 0 0 0 9 11 10 11 0 0 ./. 4 2 5 5 30 38 30 38 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377272 5 127586053 T TG 300 PASS - - - - - Ins - I 127586053 127586061 1 10 265.833 - - 7 1 1 - - ./. 0 0 0 0 11 11 12 11 0 0 ./. 1 4 3 4 29 30 30 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377288 5 127668116 AT A 360 PASS FBN2 CCDS34222.1 r.? - - Del intronic D 127668116 127668125 1 12 324.056 - - 8 1 1 FBN2|CCDS34222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBN2|CCDS34222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 1 6 2 26 10 26 10 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377439 5 128323727 GA G 420 PASS SLC27A6 CCDS4145.1 r.? - - Del intronic D 128323727 128323736 1 14 378.066 - - 8 1 1 SLC27A6|CCDS4145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC27A6|CCDS4145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 6 1 9 15 27 15 27 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377447 5 128356804 GC G 420 PASS SLC27A6 CCDS4145.1 r.? - - Del intronic D 128356804 128356810 1 14 377.464 - - 5 1 1 SLC27A6|CCDS4145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC27A6|CCDS4145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 1 6 1 9 29 28 29 28 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377479 5 128535546 GA G 420 PASS - - - - - Del - D 128535546 128535555 1 18 378.066 - - 8 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 5 2 5 13 31 13 31 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377544 5 128782556 GA G 420 PASS - - - - - Del - D 128782556 128782566 1 20 378.066 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 3 6 6 33 22 33 22 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377589 5 129004349 TG T 540 PASS ADAMTS19 CCDS4146.1 r.? - - Del intronic D 129004349 129004358 1 30 483.676 - - 8 1 1 ADAMTS19|CCDS4146.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS19|CCDS4146.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 5 5 6 15 22 15 22 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377623 5 129142070 GT G 300 PASS - - - - - Del - D 129142070 129142076 1 12 270.047 - - 5 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 3 4 4 33 21 33 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377697 5 129436658 TATA T 329 PASS CHSY3 CCDS34223.1 r.? - - Del intronic D 129436658 129436666 3 7 324.056 - - 2 1 1 CHSY3|CCDS34223.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHSY3|CCDS34223.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 0 6 2 6 13 30 13 30 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377814 5 130169717 TA T 420 PASS - - - - - Del - D 130169717 130169725 1 20 378.066 - - 7 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 3 4 5 4 31 28 31 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377831 5 130294780 CAA C 360 PASS - - - - - Del - D 130294780 130294789 2 15 320.444 - - 8 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 2 9 5 30 29 30 29 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760377911 5 130610905 A AT 480 PASS CDC42SE2 CCDS34224.1 r.? - - Ins intronic I 130610905 130610915 1 25 423.646 - - 9 1 1 CDC42SE2|CCDS34224.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CDC42SE2|CCDS34224.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 4 4 5 32 33 32 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760378353 5 132035886 GT G 300 PASS KIF3A CCDS34235.1 r.? - - Del intronic D 132035886 132035896 1 12 270.047 - - 9 1 1 KIF3A|CCDS34235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF3A|CCDS34235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 5 3 25 19 25 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760378703 5 133361895 CT C 329 PASS - - - - - Del - D 133361895 133361903 1 16 323.454 - - 7 1 1 - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 3 3 3 3 23 27 23 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760378720 5 133383710 GA G 540 PASS - - - - - Del - D 133383710 133383720 1 24 483.074 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 7 4 8 29 27 29 27 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760378737 5 133404787 AC A 360 PASS - - - - - Del - D 133404787 133404794 1 16 324.056 - - 6 1 1 - - ./. 0 0 0 0 10 4 10 4 0 0 ./. 3 3 5 3 35 15 35 15 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760378752 5 133448354 G GA 420 PASS TCF7 CCDS4170.1 r.? - - Ins upstream I 133448354 133448363 1 18 373.851 - - 8 1 1 TCF7|CCDS4170.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TCF7|CCDS4170.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 5 2 7 25 36 25 37 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760379238 5 135154572 TA T 420 PASS - - - - - Del - D 135154572 135154582 1 20 378.066 - - 9 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 4 7 7 27 28 27 28 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760379401 5 135900842 AT A 300 PASS - - - - - Del - D 135900842 135900849 1 10 270.047 - - 6 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 1 4 4 5 34 29 34 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760379563 5 136583276 TA T 420 PASS SPOCK1 CCDS4191.1 r.? - - Del intronic D 136583276 136583285 1 18 378.066 - - 8 1 1 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 5 2 8 3 31 27 31 27 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760379579 5 136650799 GA G 600 PASS SPOCK1 CCDS4191.1 r.? - - Del intronic D 136650799 136650808 1 35 529.859 - - 8 1 1 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 4 8 4 39 29 39 29 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760379580 5 136651139 A AC 480 PASS SPOCK1 CCDS4191.1 r.? - - Ins intronic I 136651139 136651147 1 24 427.259 - - 7 1 1 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 5 3 6 34 38 34 38 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760379588 5 136720646 TG T 360 PASS SPOCK1 CCDS4191.1 r.? - - Del intronic D 136720646 136720655 1 12 324.056 - - 8 1 1 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 1 5 1 29 10 29 10 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760379850 5 137431937 CA C 360 PASS WNT8A CCDS3945.1 r.? - - Del downstream D 137431937 137431947 1 15 324.056 - - 9 1 1 WNT8A|CCDS3945.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 WNT8A|CCDS3945.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 4 2 6 34 22 34 22 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760379903 5 137535616 CA C 360 PASS CDC23 CCDS4200.2 r.? - - Del intronic D 137535616 137535624 1 16 324.056 - - 7 1 1 CDC23|CCDS4200.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC23|CCDS4200.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 3 5 4 26 26 26 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760379921 5 137573526 AT A 360 PASS - - - - - Del - D 137573526 137573536 1 15 319.24 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 9 2 30 21 30 21 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380016 5 137808932 C CA 300 PASS EGR1 CCDS4206.1 r.? - - Ins downstream I 137808932 137808940 1 10 265.23 - - 7 1 1 EGR1|CCDS4206.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 EGR1|CCDS4206.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 4 13 4 0 0 ./. 1 4 2 5 21 26 21 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380032 5 137843678 A AT 300 PASS ETF1 CCDS4207.1 r.1851_1852insa c.? p.? Ins 3'UTR variant I 137843678 137843687 1 10 267.037 - - 8 1 1 ETF1|CCDS4207.1|r.1851_1852insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ETF1|CCDS4207.1|r.1851_1852insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 10 13 11 13 0 0 ./. 1 4 2 8 24 29 26 29 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380077 5 137926632 GT G 300 PASS - - - - - Del - D 137926632 137926641 1 12 269.445 - - 8 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 10 22 34 22 34 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380143 5 138094877 AT A 300 PASS CTNNA1 CCDS34243.1 r.? - - Del intronic D 138094877 138094887 1 12 270.047 - - 9 1 1 CTNNA1|CCDS34243.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CTNNA1|CCDS34243.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 3 2 5 3 24 22 24 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380220 5 138259942 G GT 300 PASS CTNNA1 CCDS34243.1 r.? - - Ins intronic I 138259942 138259951 1 12 267.037 - - 8 1 - CTNNA1|CCDS34243.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTNNA1|CCDS34243.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 2 5 3 22 27 22 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380264 5 138532656 CA C 269 PASS SIL1 CCDS4209.1 r.? - - Del intronic D 138532656 138532666 1 12 270.047 - - 9 1 1 SIL1|CCDS4209.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SIL1|CCDS4209.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 2 3 3 4 15 28 15 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380392 5 138917607 TTTTG T 389 PASS - - - - - Del - D 138917607 138917631 4 20 377.464 - - 5 1 - - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 3 5 4 33 27 33 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380426 5 138961562 GT G 540 PASS UBE2D2 CCDS47275.1 r.? - - Del intronic D 138961562 138961572 1 28 483.074 - - 9 1 1 UBE2D2|CCDS47275.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 UBE2D2|CCDS47275.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 3 9 7 22 26 22 26 9 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380508 5 139291754 AG A 360 PASS NRG2 CCDS47277.1 r.? - - Del intronic D 139291754 139291760 1 16 324.056 - - 5 1 1 NRG2|CCDS47277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG2|CCDS47277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 3 4 4 18 24 18 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380586 5 139608788 CT C 420 PASS C5orf32 CCDS4221.1 r.? - - Del intronic D 139608788 139608798 1 20 376.862 - - 9 1 1 C5orf32|CCDS4221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C5orf32|CCDS4221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 4 6 4 22 36 22 36 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380726 5 140018833 CT C 360 PASS TMCO6 CCDS4233.2 r.? - - Del upstream D 140018833 140018841 1 15 324.056 - - 7 1 1 TMCO6|CCDS4233.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TMCO6|CCDS4233.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 4 4 5 24 32 24 32 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380739 5 140045981 CA C 480 PASS WDR55 CCDS4235.1 r.? - - Del intronic D 140045981 140045991 1 25 432.075 - - 9 1 1 WDR55|CCDS4235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR55|CCDS4235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 4 4 6 4 28 23 28 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380740 5 140053247 AG A 540 PASS WDR55 CCDS4235.1 r.? - - Del downstream D 140053247 140053254 1 28 483.676 - - 6 1 1 WDR55|CCDS4235.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 HARS|ENST00000504156|r.2844delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 7 8 7 0 0 ./. 6 3 6 3 30 29 30 29 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380754 5 140083648 CT C 389 PASS HARS2 CCDS4238.1 r.? - - Del downstream D 140083648 140083658 1 20 377.464 - - 9 1 1 HARS2|CCDS4238.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZMAT2|CCDS4239.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 4 4 5 29 34 29 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760380907 5 140654900 GA G 332 PASS - - - - - Del - D 140654900 140654910 1 21 432.075 - - 9 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 6 2 7 3 23 19 23 19 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381022 5 141206960 CT C 300 PASS - - - - - Del - D 141206960 141206969 1 10 269.445 - - 8 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 1 5 2 19 21 19 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381094 5 141376496 CA C 300 PASS GNPDA1 CCDS4272.1 r.? - - Del downstream D 141376496 141376505 1 12 266.435 - - 8 1 1 GNPDA1|CCDS4272.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 GNPDA1|ENST00000513454|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 2 3 2 4 10 14 10 14 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381245 5 141717757 TA T 360 PASS - - - - - Del - D 141717757 141717767 1 15 321.046 - - 9 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 4 5 4 20 18 20 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381341 5 141991160 C CT 360 PASS FGF1 CCDS4275.1 r.? - - Ins intronic I 141991160 141991163 1 15 319.24 - - 2 1 1 FGF1|CCDS4275.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FGF1|CCDS4275.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 8 0 0 ./. 4 2 6 3 29 21 29 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381403 5 142223202 GT G 360 PASS ARHGAP26 CCDS47297.1 r.? - - Del intronic D 142223202 142223212 1 16 324.056 - - 9 1 1 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 3 3 6 3 31 22 31 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381406 5 142225530 CT C 540 PASS ARHGAP26 CCDS47297.1 r.? - - Del intronic D 142225530 142225538 1 24 475.85 - - 7 1 1 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 7 2 7 28 25 28 25 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381429 5 142351154 AT A 360 PASS ARHGAP26 CCDS47297.1 r.? - - Del intronic D 142351154 142351164 1 15 324.056 - - 9 1 1 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 2 6 4 31 23 31 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381431 5 142356217 AT A 300 PASS ARHGAP26 CCDS47297.1 r.? - - Del intronic D 142356217 142356225 1 12 270.047 - - 7 1 1 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 6 4 28 27 28 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381437 5 142383537 CAG C 269 PASS ARHGAP26 CCDS47297.1 r.? - - Del intronic D 142383537 142383545 2 12 270.047 - - 3 1 1 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 9 9 0 0 ./. 3 2 4 3 27 16 27 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381444 5 142417814 C CT 480 PASS ARHGAP26 CCDS47297.1 r.? - - Ins intronic I 142417814 142417823 1 24 424.248 - - 8 1 1 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 5 3 7 25 34 27 34 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381471 5 142562425 AT A 420 PASS ARHGAP26 CCDS47297.1 r.? - - Del intronic D 142562425 142562431 1 18 377.464 - - 5 1 1 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 6 15 6 0 0 ./. 2 5 6 5 24 32 24 32 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381568 5 142910992 GA G 294 PASS - - - - - Del - D 142910992 142911002 1 12 269.445 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 2 3 3 23 17 23 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381783 5 143863484 A AT 360 PASS - - - - - Ins - I 143863484 143863492 1 16 320.444 - - 7 1 1 - - ./. 0 0 0 0 20 9 20 9 0 0 ./. 3 3 3 3 12 17 12 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760381942 5 144385941 AT A 300 PASS - - - - - Del - D 144385941 144385950 1 10 270.047 - - 8 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 1 4 1 4 6 12 6 12 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382015 5 144633401 C CA 300 PASS - - - - - Ins - I 144633401 144633410 1 12 265.833 - - 8 1 - - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 3 3 6 22 36 22 37 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382074 5 144832019 AT A 360 PASS - - - - - Del - D 144832019 144832026 1 16 322.25 - - 6 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 3 3 4 6 22 34 22 34 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382076 5 144841410 AT A 300 PASS - - - - - Del - D 144841410 144841416 1 12 270.047 - - 5 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 3 2 3 5 28 15 28 15 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382133 5 145123794 CTT C 300 PASS - - - - - Del - D 145123794 145123797 2 10 267.037 - - 2 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 4 1 7 15 36 15 36 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382194 5 145409269 G GA 360 PASS SH3RF2 CCDS4280.1 r.? - - Ins intronic I 145409269 145409275 1 15 320.444 - - 5 1 1 SH3RF2|CCDS4280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SH3RF2|CCDS4280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 11 10 0 0 ./. 4 2 4 2 35 25 35 26 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382204 5 145435817 TG T 540 PASS SH3RF2 CCDS4280.1 r.? - - Del intronic D 145435817 145435824 1 28 486.085 - - 6 1 1 SH3RF2|CCDS4280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3RF2|CCDS4280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 14 2 14 0 0 ./. 6 3 6 3 31 24 31 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382213 5 145453221 AT A 300 PASS SH3RF2 ENST00000511217 r.? - - Del intronic D 145453221 145453231 1 12 270.047 - - 9 1 1 SH3RF2|ENST00000511217|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 SH3RF2|ENST00000511217|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 5 4 21 25 21 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382315 5 145722633 CT C 480 PASS POU4F3 CCDS4281.1 r.? - - Del downstream D 145722633 145722643 1 24 431.473 - - 9 1 1 POU4F3|CCDS4281.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 POU4F3|CCDS4281.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 5 3 5 23 21 23 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382438 5 146111406 CT C 360 PASS PPP2R2B CCDS4284.1 r.? - - Del intronic D 146111406 146111416 1 15 324.056 - - 9 1 1 PPP2R2B|CCDS4284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP2R2B|CCDS4284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 4 2 5 26 23 26 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382511 5 146428939 CT C 300 PASS PPP2R2B CCDS4284.1 r.? - - Del intronic D 146428939 146428949 1 10 270.047 - - 9 1 1 PPP2R2B|CCDS4284.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PPP2R2B|CCDS4284.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 1 4 1 26 19 26 19 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382850 5 147544926 TA T 480 PASS SPINK5L2 CCDS4288.1 r.? - - Del upstream D 147544926 147544935 1 21 431.473 - - 8 1 1 SPINK5L2|CCDS4288.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SPINK5L2|CCDS4288.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 2 9 3 24 29 24 29 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760382934 5 147851699 C CA 540 PASS HTR4 CCDS34271.1 r.? - - Ins intronic I 147851699 147851702 1 30 480.064 - - 2 1 1 HTR4|CCDS34271.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HTR4|CCDS34271.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 5 4 5 23 27 24 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383105 5 148607973 G GA 360 PASS ABLIM3 CCDS4294.1 r.? - - Ins intronic I 148607973 148607982 1 15 320.444 - - 8 1 1 ABLIM3|CCDS4294.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABLIM3|CCDS4294.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 4 2 6 11 23 11 23 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383110 5 148629460 CTG C 600 PASS ABLIM3 CCDS4294.1 r.? - - Del intronic D 148629460 148629466 2 36 540.094 - - 2 1 1 ABLIM3|CCDS4294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABLIM3|CCDS4294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 5 5 5 34 22 34 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383139 5 148731796 AT A 480 PASS GRPEL2 CCDS4295.1 r.1740delU c.? p.? Del 3'UTR variant D 148731796 148731806 1 24 432.075 - - 9 1 1 GRPEL2|CCDS4295.1|r.1740delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 GRPEL2|CCDS4295.1|r.1740delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 3 8 4 28 17 28 17 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383221 5 148944385 C CA 480 PASS ENSG00000183111 ENST00000505810 r.? - - Ins intronic I 148944385 148944393 1 24 427.259 - - 7 1 1 ENSG00000183111|ENST00000505810|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENSG00000183111|ENST00000505810|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 3 5 4 6 24 30 24 32 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383334 5 149241349 GA G 420 PASS PDE6A CCDS4299.1 r.? - - Del intronic D 149241349 149241357 1 14 376.862 - - 7 1 1 PDE6A|CCDS4299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE6A|CCDS4299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 1 8 1 27 31 27 31 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383369 5 149357015 CT C 360 PASS SLC26A2 CCDS4300.1 r.? - - Del intronic D 149357015 149357025 1 15 322.852 - - 9 1 1 SLC26A2|CCDS4300.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC26A2|CCDS4300.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 4 2 5 26 31 26 31 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383382 5 149427558 TCTC T 360 PASS HMGXB3 ENST00000421549 r.? - - Del intronic D 149427558 149427567 3 15 321.046 - - 2 1 1 HMGXB3|ENST00000421549|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMGXB3|ENST00000421549|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 2 5 3 26 26 26 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383414 5 149550422 CT C 480 PASS CDX1 CCDS4304.1 r.? - - Del intronic D 149550422 149550432 1 24 430.871 - - 9 1 1 CDX1|CCDS4304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDX1|CCDS4304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 16 7 16 0 0 ./. 5 3 6 6 37 40 37 40 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383497 5 149820828 GGGAA G 300 PASS RPS14 CCDS4307.1 r.? - - Del downstream D 149820828 149820838 4 10 270.047 - - 2 1 1 RPS14|CCDS4307.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RPS14|CCDS4307.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 6 12 6 0 0 ./. 1 4 1 8 26 28 26 28 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383505 5 149857356 CAAG C 269 PASS - - - - - Del - D 149857356 149857363 3 10 270.047 - - 2 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 1 4 1 25 24 25 24 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383611 5 150357980 CA C 300 PASS - - - - - Del - D 150357980 150357990 1 12 267.639 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 3 3 21 27 21 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760383710 5 150650540 TA T 780 PASS GM2A CCDS4313.1 r.? - - Del downstream D 150650540 150650549 1 54 700.918 - - 8 1 1 GM2A|CCDS4313.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 GM2A|CCDS4313.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 8 7 8 25 39 25 39 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760384008 5 151405168 CCT C 360 PASS - - - - - Del - D 151405168 151405171 2 15 324.056 - - 1 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 4 2 5 4 22 18 22 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760384772 5 153967362 ACT A 269 PASS - - - - - Del - D 153967362 153967372 2 12 270.047 - - 4 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 2 3 26 29 26 29 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760384875 5 154196090 CT C 300 PASS LARP1 CCDS34281.1 r.6155delU c.? p.? Del 3'UTR variant D 154196090 154196100 1 10 261.016 - - 9 1 - LARP1|CCDS34281.1|r.6155delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 LARP1|CCDS34281.1|r.6155delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 1 7 2 27 18 27 18 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760384972 5 154523535 TTC T 420 PASS - - - - - Del - D 154523535 154523550 2 20 378.066 - - 7 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 3 4 5 24 22 24 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760384987 5 154597935 AT A 360 PASS - - - - - Del - D 154597935 154597945 1 15 324.056 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 2 5 3 33 22 33 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385109 5 155006718 G GT 300 PASS - - - - - Ins - I 155006718 155006725 1 10 267.037 - - 6 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 1 4 1 38 26 39 26 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385150 5 155196999 AT A 600 PASS - - - - - Del - D 155196999 155197009 1 32 539.492 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 7 3 7 31 31 31 31 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385234 5 155679073 AT A 300 PASS - - - - - Del - D 155679073 155679083 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 2 5 3 22 31 22 31 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385238 5 155698002 CA C 600 PASS - - - - - Del - D 155698002 155698010 1 36 536.482 - - 7 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 5 5 6 6 27 29 27 29 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385334 5 156052225 CT C 300 PASS SGCD CCDS47325.1 r.? - - Del intronic D 156052225 156052235 1 12 270.047 - - 9 1 1 SGCD|CCDS47325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCD|CCDS47325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 3 2 18 25 18 25 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385374 5 156227926 GA G 300 PASS - - - - - Del - D 156227926 156227934 1 12 270.047 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 4 3 25 26 25 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385516 5 156549946 CT C 300 PASS - - - - - Del - D 156549946 156549953 1 12 270.047 - - 6 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 3 2 3 8 10 8 10 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385698 5 157138864 CT C 420 PASS - - - - - Del - D 157138864 157138873 1 14 377.464 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 1 7 3 26 8 26 8 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385768 5 157275121 AT A 300 PASS CLINT1 CCDS47330.1 r.? - - Del intronic D 157275121 157275131 1 10 270.047 - - 9 1 1 CLINT1|CCDS47330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLINT1|CCDS47330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 4 1 4 13 28 13 28 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385827 5 157397053 GT G 420 PASS - - - - - Del - D 157397053 157397063 1 18 378.066 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 2 7 2 32 23 32 23 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385873 5 157554555 GA G 300 PASS - - - - - Del - D 157554555 157554564 1 12 269.445 - - 8 1 1 - - ./. 0 0 0 0 3 14 3 14 0 0 ./. 3 2 3 6 23 26 23 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385945 5 157836076 C CT 300 PASS - - - - - Ins - I 157836076 157836084 1 12 267.037 - - 7 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 5 2 21 17 21 17 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760385972 5 157916832 GA G 360 PASS - - - - - Del - D 157916832 157916840 1 15 324.056 - - 7 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 2 4 3 4 28 26 28 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760386025 5 158079093 GTACTC G 420 PASS - - - - - Del - D 158079093 158079100 5 20 377.464 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 4 3 4 14 18 14 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760386102 5 158381999 AT A 420 PASS EBF1 CCDS4343.1 r.? - - Del intronic D 158381999 158382008 1 20 378.066 - - 8 1 1 EBF1|CCDS4343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EBF1|CCDS4343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 4 3 4 3 18 35 18 35 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760386221 5 158889682 AT A 300 PASS - - - - - Del - D 158889682 158889692 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 3 2 4 3 28 26 28 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760386267 5 159032553 GA G 540 PASS - - - - - Del - D 159032553 159032563 1 24 486.085 - - 9 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 7 3 7 35 37 35 37 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760386273 5 159045040 GA G 300 PASS - - - - - Del - D 159045040 159045048 1 12 270.047 - - 7 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 3 5 20 21 20 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760386617 5 159997027 G GT 300 PASS ATP10B CCDS43394.1 r.? - - Ins intronic I 159997027 159997036 1 6 266.435 - - 8 1 1 ATP10B|CCDS43394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP10B|CCDS43394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 0 5 0 5 1 29 1 29 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760386670 5 160194126 TA T 360 PASS ATP10B CCDS43394.1 r.? - - Del intronic D 160194126 160194135 1 16 324.056 - - 8 1 1 ATP10B|CCDS43394.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ATP10B|CCDS43394.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 3 3 4 27 17 27 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760386848 5 160799777 CT C 540 PASS GABRB2 CCDS4355.1 r.? - - Del intronic D 160799777 160799784 1 24 486.085 - - 6 1 1 GABRB2|CCDS4355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GABRB2|CCDS4355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 2 8 3 31 10 31 10 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760386864 5 160892260 GA G 480 PASS GABRB2 CCDS4355.1 r.? - - Del intronic D 160892260 160892270 1 16 432.075 - - 9 1 1 GABRB2|CCDS4355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GABRB2|CCDS4355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 7 1 7 2 30 21 30 21 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760387168 5 161969066 TA T 360 PASS - - - - - Del - D 161969066 161969075 1 15 324.056 - - 8 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 2 3 2 27 30 27 30 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760387221 5 162144797 GT G 300 PASS - - - - - Del - D 162144797 162144806 1 12 268.843 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 2 3 2 28 24 28 24 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760387283 5 162347367 CT C 300 PASS - - - - - Del - D 162347367 162347377 1 10 270.047 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 4 2 4 9 24 9 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760387304 5 162427836 CA C 300 PASS - - - - - Del - D 162427836 162427845 1 12 270.047 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 4 2 30 12 30 12 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760387557 5 163096943 ATAAT A 300 PASS - - - - - Del - D 163096943 163096950 4 10 270.047 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 4 3 4 24 30 24 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760387709 5 163753747 CA C 420 PASS - - - - - Del - D 163753747 163753755 1 18 378.066 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 5 5 9 23 31 23 31 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760387729 5 163830153 G GA 300 PASS AC008446.1 ENST00000486913 r.? - - Ins intronic I 163830153 163830162 1 6 266.435 - - 8 1 1 AC008446.1|ENST00000486913|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC008446.1|ENST00000486913|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 0 5 0 6 13 26 13 26 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760387733 5 163855446 T TA 300 PASS AC008446.1 ENST00000486913 r.? - - Ins intronic I 163855446 163855450 1 6 267.037 - - 3 1 1 AC008446.1|ENST00000486913|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC008446.1|ENST00000486913|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 0 6 2 28 25 28 26 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760387991 5 164709950 CA C 420 PASS - - - - - Del - D 164709950 164709956 1 20 378.066 - - 5 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 3 4 3 21 24 21 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388130 5 165320598 AT A 360 PASS - - - - - Del - D 165320598 165320605 1 12 324.056 - - 6 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 5 1 6 1 32 21 32 21 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388147 5 165479865 A AT 300 PASS - - - - - Ins - I 165479865 165479874 1 12 267.037 - - 8 1 1 - - ./. 0 0 0 0 19 21 19 21 0 0 ./. 3 2 3 4 22 19 22 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388269 5 165903246 AC A 420 PASS - - - - - Del - D 165903246 165903252 1 18 378.066 - - 5 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 5 2 5 3 11 26 11 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388333 5 166109474 GT G 300 PASS - - - - - Del - D 166109474 166109484 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 18 6 18 6 0 0 ./. 3 2 4 4 25 26 25 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388353 5 166189011 C CT 300 PASS - - - - - Ins - I 166189011 166189018 1 12 267.037 - - 6 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 2 3 5 25 27 26 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388392 5 166322634 GA G 300 PASS - - - - - Del - D 166322634 166322643 1 12 270.047 - - 8 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 2 3 3 4 21 17 21 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388482 5 166626807 AT A 300 PASS - - - - - Del - D 166626807 166626815 1 12 270.047 - - 7 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 2 3 4 5 21 26 21 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388593 5 166892678 CA C 306 PASS - - - - - Del - D 166892678 166892687 1 15 322.852 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 2 5 6 29 20 29 20 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388715 5 167276336 GA G 540 PASS - - - - - Del - D 167276336 167276345 1 30 486.085 - - 8 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 4 7 4 35 23 35 23 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388727 5 167315482 CA C 600 PASS ODZ2 ENST00000403607 r.? - - Del intronic D 167315482 167315492 1 36 540.094 - - 9 1 1 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 5 6 6 28 19 28 19 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388753 5 167418007 AT A 360 PASS ODZ2 ENST00000403607 r.? - - Del intronic D 167418007 167418014 1 15 324.056 - - 6 1 1 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 4 2 6 17 27 17 27 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760388771 5 167475178 GA G 269 PASS ODZ2 ENST00000403607 r.? - - Del intronic D 167475178 167475188 1 12 270.047 - - 9 1 1 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 5 4 31 27 31 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389013 5 168089463 CT C 480 PASS SLIT3 CCDS4369.1 r.? - - Del downstream D 168089463 168089472 1 24 430.269 - - 8 1 1 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 3 7 6 39 34 39 34 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389041 5 168215601 AT A 269 PASS SLIT3 CCDS4369.1 r.? - - Del intronic D 168215601 168215611 1 12 270.047 - - 9 1 1 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 16 6 16 0 0 ./. 3 2 7 2 27 24 27 24 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389080 5 168348238 TA T 480 PASS SLIT3 CCDS4369.1 r.? - - Del intronic D 168348238 168348246 1 24 425.453 - - 7 1 1 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 3 5 5 6 33 28 33 28 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389108 5 168407109 CAA C 360 PASS SLIT3 CCDS4369.1 r.? - - Del intronic D 168407109 168407114 2 15 324.056 - - 4 1 1 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 2 4 2 4 25 25 25 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389109 5 168420267 AG A 480 PASS SLIT3 CCDS4369.1 r.? - - Del intronic D 168420267 168420270 1 24 430.269 - - 2 1 1 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 3 7 3 31 24 31 24 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389138 5 168556559 CA C 449 PASS SLIT3 CCDS4369.1 r.? - - Del intronic D 168556559 168556568 1 21 432.075 - - 8 1 1 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 2 6 3 25 28 25 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389210 5 168789954 C CT 420 PASS - - - - - Ins - I 168789954 168789963 1 20 373.851 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 15 0 0 ./. 4 3 4 3 22 24 23 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389254 5 168960943 GGT G 300 PASS - - - - - Del - D 168960943 168960960 2 10 269.445 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 4 6 27 21 27 21 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389361 5 169324198 CT C 300 PASS DOCK2 CCDS4371.1 r.? - - Del intronic D 169324198 169324208 1 12 270.047 - - 9 1 1 DOCK2|CCDS4371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK2|CCDS4371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 3 2 28 10 28 10 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389481 5 169748557 G GA 480 PASS - - - - - Ins - I 169748557 169748567 1 25 427.259 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 4 5 6 27 21 27 21 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389486 5 169763680 TA T 480 PASS AC034199.1 ENST00000436248 r.? - - Del downstream D 169763680 169763685 1 24 432.075 - - 4 1 1 AC034199.1|ENST00000436248|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 AC034199.1|ENST00000436248|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 3 8 4 30 23 30 23 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389823 5 170781036 CT C 480 PASS - - - - - Del - D 170781036 170781046 1 21 432.075 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 2 10 4 32 24 32 24 10 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389886 5 170899478 T TG 300 PASS - - - - - Ins - I 170899478 170899482 1 10 260.414 - - 3 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 4 2 26 12 26 12 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389922 5 171000899 GC G 420 PASS - - - - - Del - D 171000899 171000906 1 20 378.066 - - 6 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 4 3 7 25 38 25 38 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760389942 5 171053237 CT C 300 PASS - - - - - Del - D 171053237 171053247 1 6 270.047 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 0 6 2 32 12 32 12 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760390106 5 171546420 TA T 296 PASS STK10 CCDS34290.1 r.? - - Del intronic D 171546420 171546430 1 20 378.066 - - 9 1 1 STK10|CCDS34290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK10|CCDS34290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 3 4 5 15 27 15 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760390203 5 171807359 GT G 360 PASS SH3PXD2B CCDS34291.1 r.? - - Del intronic D 171807359 171807365 1 16 324.056 - - 5 1 1 SH3PXD2B|CCDS34291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3PXD2B|CCDS34291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 3 5 3 14 25 14 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760390302 5 172133579 AC A 300 PASS - - - - - Del - D 172133579 172133586 1 12 270.047 - - 6 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 2 3 3 19 25 19 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760390330 5 172204834 AAGG A 360 PASS - - - - - Del - D 172204834 172204845 3 15 324.056 - - 3 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 3 5 28 27 28 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760390558 5 172696631 A AT 300 PASS - - - - - Ins - I 172696631 172696641 1 12 267.037 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 4 3 22 24 22 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760390589 5 172791953 AT A 300 PASS - - - - - Del - D 172791953 172791959 1 12 270.047 - - 5 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 2 3 4 26 23 26 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760390799 5 173503461 GA G 300 PASS ENSG00000170091 CCDS4391.1 r.? - - Del intronic D 173503461 173503469 1 12 270.047 - - 7 1 1 ENSG00000170091|CCDS4391.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000170091|CCDS4391.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 3 3 3 17 21 17 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760390828 5 173615289 CA C 420 PASS - - - - - Del - D 173615289 173615295 1 20 378.066 - - 5 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 3 5 4 37 36 37 36 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760390911 5 173808866 CT C 300 PASS - - - - - Del - D 173808866 173808876 1 10 270.047 - - 9 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 1 4 2 7 33 31 33 31 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760391281 5 174650039 GA G 600 PASS - - - - - Del - D 174650039 174650049 1 35 540.094 - - 9 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 6 4 8 5 35 34 35 34 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760391289 5 174683534 AT A 660 PASS - - - - - Del - D 174683534 174683542 1 42 594.103 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 6 5 7 34 26 34 26 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760391303 5 174747439 A AT 420 PASS - - - - - Ins - I 174747439 174747447 1 20 367.831 - - 7 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 3 6 4 26 23 26 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760391313 5 174777694 GT G 360 PASS - - - - - Del - D 174777694 174777700 1 16 321.046 - - 5 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 4 4 24 25 24 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760391611 5 175711975 CA C 300 PASS C5orf25 CCDS4398.2 r.? - - Del intronic D 175711975 175711983 1 18 378.066 - - 7 1 1 C5orf25|CCDS4398.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C5orf25|CCDS4398.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 5 3 5 22 28 22 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760391806 5 176094212 TA T 300 PASS - - - - - Del - D 176094212 176094222 1 12 270.047 - - 9 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 2 3 5 5 27 21 27 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760391872 5 176293087 T TCA 389 PASS UNC5A CCDS34299.1 r.? - - Ins intronic I 176293087 176293099 2 18 361.81 - - 5 1 1 UNC5A|CCDS34299.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UNC5A|CCDS34299.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 10 17 0 0 ./. 2 5 5 8 31 36 31 36 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760392101 5 176990990 A AG 540 PASS - - - - - Ins - I 176990990 176990995 1 28 480.064 - - 4 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 3 6 4 22 25 22 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760392104 5 176996066 C CA 300 PASS - - - - - Ins - I 176996066 176996076 1 6 266.435 - - 9 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 0 6 0 31 24 31 24 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760392364 5 177657532 GT G 360 PASS AGXT2L2 CCDS4434.1 r.? - - Del intronic D 177657532 177657542 1 15 321.648 - - 9 1 1 AGXT2L2|CCDS4434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGXT2L2|CCDS4434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 4 3 5 25 24 25 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760392468 5 177957461 CA C 300 PASS COL23A1 CCDS4436.1 r.? - - Del intronic D 177957461 177957471 1 12 270.047 - - 9 1 1 COL23A1|CCDS4436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL23A1|CCDS4436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 5 2 29 23 29 23 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760392538 5 178120157 C CA 420 PASS - - - - - Ins - I 178120157 178120165 1 20 370.239 - - 7 1 1 - - ./. 0 0 0 0 5 8 6 8 0 0 ./. 3 4 5 4 29 39 29 39 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760392915 5 179018188 GT G 480 PASS RUFY1 CCDS4445.2 r.? - - Del intronic D 179018188 179018198 1 25 432.075 - - 9 1 1 RUFY1|CCDS4445.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RUFY1|CCDS4445.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 4 4 6 21 30 21 30 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760392997 5 179151044 TA T 480 PASS CANX CCDS4447.1 r.? - - Del intronic D 179151044 179151054 1 16 429.065 - - 9 1 1 CANX|CCDS4447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CANX|CCDS4447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 1 7 1 7 30 27 30 27 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760393013 5 179173345 CA C 660 PASS MAML1 CCDS34315.1 r.? - - Del intronic D 179173345 179173355 1 42 594.103 - - 9 1 1 MAML1|CCDS34315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAML1|CCDS34315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 18 5 18 0 0 ./. 6 5 9 8 28 22 28 22 9 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760393093 5 179354086 CT C 269 PASS - - - - - Del - D 179354086 179354093 1 12 269.445 - - 6 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 3 2 4 19 26 19 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760393209 5 179605834 AC A 360 PASS RASGEF1C CCDS4452.1 r.? - - Del intronic D 179605834 179605840 1 12 324.056 - - 5 1 1 RASGEF1C|CCDS4452.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RASGEF1C|CCDS4452.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 1 5 1 17 15 17 15 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760393459 5 180072133 T TG 480 PASS FLT4 CCDS4457.1 r.? - - Ins intronic I 180072133 180072142 1 24 427.259 - - 8 1 1 FLT4|CCDS4457.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FLT4|CCDS4457.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 5 13 5 0 0 ./. 3 5 4 7 35 25 36 25 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760393492 5 180179967 CA C 480 PASS - - - - - Del - D 180179967 180179975 1 25 430.871 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 4 6 5 30 24 30 24 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760393691 6 152044 GA G 389 PASS - - - - - Del - D 152044 152053 1 20 378.063 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 3 5 3 26 23 26 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760393863 6 589595 AT A 420 PASS EXOC2 CCDS34327.1 r.? - - Del intronic D 589595 589602 1 20 378.063 - - 6 1 1 EXOC2|CCDS34327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC2|CCDS34327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 3 6 4 33 17 33 17 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760393866 6 597493 AT A 480 PASS EXOC2 CCDS34327.1 r.? - - Del intronic D 597493 597500 1 16 432.072 - - 6 1 1 EXOC2|CCDS34327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC2|CCDS34327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 7 1 7 14 27 14 27 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760394005 6 918682 TA T 360 PASS - - - - - Del - D 918682 918691 1 16 324.054 - - 8 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 3 6 3 37 22 37 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760394191 6 1468128 TG T 300 PASS - - - - - Del - D 1468128 1468138 1 10 268.841 - - 9 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 1 8 1 23 16 23 16 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760394393 6 2081818 GA G 300 PASS GMDS CCDS4474.1 r.? - - Del intronic D 2081818 2081828 1 12 270.045 - - 9 1 1 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 2 3 2 21 27 21 27 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760394429 6 2219803 TA T 360 PASS GMDS CCDS4474.1 r.? - - Del intronic D 2219803 2219813 1 16 324.054 - - 9 1 1 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 4 4 24 20 24 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760394452 6 2295352 G GA 300 PASS - - - - - Ins - I 2295352 2295359 1 12 267.035 - - 6 1 1 - - ./. 0 0 0 0 12 10 13 10 0 0 ./. 2 3 3 4 14 22 14 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760394456 6 2300300 GT G 360 PASS - - - - - Del - D 2300300 2300308 1 15 324.054 - - 7 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 2 5 2 35 21 35 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760394529 6 2525456 C CA 329 PASS - - - - - Ins - I 2525456 2525462 1 15 317.431 - - 5 1 1 - - ./. 0 0 0 0 2 9 2 9 0 0 ./. 2 4 2 7 23 29 24 29 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760394724 6 2963498 GA G 300 PASS SERPINB6 CCDS4479.1 r.? - - Del upstream D 2963498 2963506 1 10 270.045 - - 7 1 1 SERPINB6|CCDS4479.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SERPINB6|CCDS4479.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 1 4 1 5 20 14 20 14 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760394767 6 3046293 G GA 360 PASS - - - - - Ins - I 3046293 3046296 1 15 319.839 - - 2 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 4 2 5 27 30 27 30 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760394892 6 3370166 GA G 300 PASS SLC22A23 CCDS47363.1 r.? - - Del intronic D 3370166 3370173 1 6 270.045 - - 6 1 1 SLC22A23|CCDS47363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC22A23|CCDS47363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 0 5 1 5 25 29 25 29 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760394940 6 3609481 G GA 300 PASS - - - - - Ins - I 3609481 3609491 1 12 267.035 - - 9 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 2 3 2 4 35 27 35 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760395081 6 3984472 CA C 300 PASS ENSG00000145965 ENST00000356722 r.? - - Del downstream D 3984472 3984480 1 12 270.045 - - 7 1 1 ENSG00000145965|ENST00000356722|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ENSG00000145965|ENST00000356722|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 19 10 19 10 0 0 ./. 3 2 5 5 33 25 33 25 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760395156 6 4259284 CT C 389 PASS - - - - - Del - D 4259284 4259293 1 20 377.461 - - 8 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 3 6 4 27 26 27 26 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760395551 6 5260059 TA T 480 PASS FARS2 CCDS4494.1 r.? - - Del upstream D 5260059 5260069 1 24 432.072 - - 9 1 1 FARS2|CCDS4494.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 LYRM4|ENST00000330636|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 5 5 5 42 22 42 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760395657 6 5625738 C CG 300 PASS FARS2 CCDS4494.1 r.? - - Ins intronic I 5625738 5625742 1 10 267.035 - - 3 1 1 FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 1 4 1 33 29 33 29 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760396180 6 7060273 GA G 360 PASS - - - - - Del - D 7060273 7060283 1 16 322.85 - - 9 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 3 3 4 14 24 14 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760396402 6 7547020 GA G 360 PASS DSP CCDS4501.1 r.? - - Del intronic D 7547020 7547027 1 12 324.054 - - 6 1 1 DSP|CCDS4501.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DSP|CCDS4501.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 1 6 1 31 17 31 17 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760396494 6 7899668 CA C 418 PASS TXNDC5 CCDS4505.1 r.? - - Del intronic D 7899668 7899676 1 25 432.072 - - 7 1 1 TXNDC5|CCDS4505.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TXNDC5|CCDS4505.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 4 5 9 15 29 15 29 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760396632 6 8221964 C CA 420 PASS - - - - - Ins - I 8221964 8221968 1 18 373.848 - - 3 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 2 6 3 23 26 23 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760396889 6 8834449 AT A 360 PASS - - - - - Del - D 8834449 8834458 1 12 324.054 - - 8 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 1 5 1 27 15 27 15 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760396896 6 8854756 C CA 449 PASS - - - - - Ins - I 8854756 8854765 1 25 423.643 - - 8 1 1 - - ./. 0 0 0 0 11 8 12 8 0 0 ./. 4 4 5 4 27 22 28 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760397015 6 9160958 T TA 343 PASS - - - - - Ins - I 9160958 9160965 1 28 480.662 - - 6 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 6 4 6 32 25 32 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760397078 6 9397745 CT C 360 PASS - - - - - Del - D 9397745 9397755 1 12 324.054 - - 9 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 1 9 1 29 7 29 7 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760397085 6 9422708 AT A 300 PASS - - - - - Del - D 9422708 9422716 1 6 268.239 - - 7 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 0 5 0 6 1 27 1 27 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760397144 6 9724220 AG A 300 PASS OFCC1 ENST00000460363 r.? - - Del intronic D 9724220 9724226 1 12 270.045 - - 5 1 1 OFCC1|ENST00000460363|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OFCC1|ENST00000460363|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 3 3 7 28 32 28 32 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760397430 6 10453368 G GT 420 PASS - - - - - Ins - I 10453368 10453375 1 20 373.246 - - 6 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 4 5 5 27 27 27 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760397784 6 11363557 AT A 300 PASS NEDD9 ENST00000504387 r.? - - Del intronic D 11363557 11363566 1 12 270.045 - - 8 1 1 NEDD9|ENST00000504387|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NEDD9|ENST00000504387|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 2 3 3 31 23 31 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760397807 6 11417323 T TG 480 PASS - - - - - Ins - I 11417323 11417332 1 25 418.224 - - 8 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 4 7 6 31 27 31 27 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760397923 6 11736184 C CT 269 PASS C6orf105 CCDS4521.1 r.? - - Ins intronic I 11736184 11736193 1 12 248.973 - - 8 1 1 C6orf105|CCDS4521.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C6orf105|CCDS4521.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 5 4 24 24 24 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760398101 6 12314188 CT C 277 PASS - - - - - Del - D 12314188 12314198 1 10 268.841 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 4 2 3 22 19 22 19 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760398121 6 12384398 CA C 360 PASS - - - - - Del - D 12384398 12384406 1 15 324.054 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 2 5 2 29 24 29 24 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760398303 6 13071071 CA C 300 PASS PHACTR1 ENST00000379350 r.? - - Del intronic D 13071071 13071081 1 12 265.83 - - 9 1 1 PHACTR1|ENST00000379350|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHACTR1|ENST00000379350|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 4 2 34 24 34 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760398334 6 13172173 AT A 277 PASS PHACTR1 ENST00000379350 r.? - - Del intronic D 13172173 13172180 1 12 270.045 - - 6 1 1 PHACTR1|ENST00000379350|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHACTR1|ENST00000379350|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 4 4 31 37 31 40 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760398625 6 13906936 GT G 360 PASS - - - - - Del - D 13906936 13906946 1 15 315.023 - - 9 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 4 2 4 25 28 25 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760398705 6 14098533 C CA 360 PASS - - - - - Ins - I 14098533 14098542 1 16 320.441 - - 8 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 3 3 3 4 24 17 24 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760398839 6 14557886 TC T 480 PASS - - - - - Del - D 14557886 14557892 1 24 432.072 - - 5 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 3 6 3 29 21 29 21 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760398910 6 14746685 CA C 540 PASS - - - - - Del - D 14746685 14746692 1 28 484.877 - - 6 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 6 6 7 34 34 34 34 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399067 6 15134293 CT C 300 PASS - - - - - Del - D 15134293 15134303 1 10 267.637 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 1 6 2 24 22 24 22 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399163 6 15342865 AT A 420 PASS JARID2 CCDS4533.1 r.? - - Del intronic D 15342865 15342871 1 18 378.063 - - 5 1 1 JARID2|CCDS4533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JARID2|CCDS4533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 5 3 5 19 22 19 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399250 6 15500313 AC A 540 PASS JARID2 CCDS4533.1 r.? - - Del intronic D 15500313 15500320 1 24 486.081 - - 6 1 1 JARID2|CCDS4533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JARID2|CCDS4533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 7 4 12 30 32 30 32 4 12 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399509 6 16317722 A AT 420 PASS ATXN1 CCDS34342.1 r.? - - Ins intronic I 16317722 16317730 1 18 373.246 - - 7 1 1 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 2 6 2 27 20 27 20 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399582 6 16532935 CA C 300 PASS ATXN1 CCDS34342.1 r.? - - Del intronic D 16532935 16532944 1 6 270.045 - - 8 1 1 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 0 5 0 6 21 31 21 31 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399636 6 16664519 G GT 360 PASS ATXN1 CCDS34342.1 r.? - - Ins intronic I 16664519 16664527 1 15 319.237 - - 7 1 1 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 13 11 0 0 ./. 2 4 4 5 22 27 22 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399637 6 16668404 GT G 537 PASS ATXN1 CCDS34342.1 r.? - - Del intronic D 16668404 16668413 1 28 484.275 - - 8 1 1 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 6 3 8 25 29 25 29 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399692 6 16881726 AT A 300 PASS - - - - - Del - D 16881726 16881736 1 12 270.045 - - 9 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 2 3 3 3 25 27 25 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399852 6 17265068 CT C 300 PASS - - - - - Del - D 17265068 17265078 1 6 270.045 - - 9 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 0 5 1 6 6 22 6 22 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399855 6 17271429 G GA 269 PASS - - - - - Ins - I 17271429 17271438 1 6 267.035 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 0 5 0 5 0 27 0 27 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399861 6 17281564 A AG 300 PASS RBM24 CCDS47378.1 r.? - - Ins upstream I 17281564 17281572 1 10 266.432 - - 7 1 1 RBM24|CCDS47378.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 RBM24|CCDS47378.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 1 8 2 29 23 29 23 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760399882 6 17343312 CA C 298 PASS - - - - - Del - D 17343312 17343322 1 16 323.452 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 3 4 5 30 22 30 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760400444 6 18792732 AT A 300 PASS - - - - - Del - D 18792732 18792742 1 12 270.045 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 7 2 21 10 21 10 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760400722 6 19757281 CA C 360 PASS - - - - - Del - D 19757281 19757290 1 12 321.646 - - 8 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 5 1 6 5 31 23 31 23 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760400842 6 20124287 CA C 629 PASS LPCAT3 CCDS34346.1 r.? - - Del intronic D 20124287 20124297 1 42 594.099 - - 9 1 1 LPCAT3|CCDS34346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPCAT3|CCDS34346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 5 7 6 29 28 29 28 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760400844 6 20132134 AT A 480 PASS LPCAT3 CCDS34346.1 r.? - - Del intronic D 20132134 20132144 1 21 431.47 - - 9 1 1 LPCAT3|CCDS34346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPCAT3|CCDS34346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 6 2 7 3 27 13 27 13 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760400871 6 20189628 AT A 420 PASS LPCAT3 CCDS34346.1 r.? - - Del intronic D 20189628 20189637 1 20 378.063 - - 8 1 1 LPCAT3|CCDS34346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPCAT3|CCDS34346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 4 3 4 18 24 18 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401039 6 20633304 GATA G 360 PASS CDKAL1 CCDS4546.1 r.? - - Del intronic D 20633304 20633313 3 15 324.054 - - 2 1 1 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 4 2 4 24 13 24 13 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401094 6 20735405 C CT 329 PASS CDKAL1 CCDS4546.1 r.? - - Ins intronic I 20735405 20735413 1 16 320.441 - - 7 1 1 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 3 7 4 26 22 26 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401124 6 20815848 TA T 300 PASS CDKAL1 CCDS4546.1 r.? - - Del intronic D 20815848 20815858 1 6 270.045 - - 9 1 1 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 0 6 0 33 5 33 5 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401131 6 20827838 TA T 660 PASS CDKAL1 CCDS4546.1 r.? - - Del intronic D 20827838 20827848 1 40 594.099 - - 9 1 1 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 7 4 7 27 21 27 21 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401216 6 21019646 CT C 480 PASS CDKAL1 CCDS4546.1 r.? - - Del intronic D 21019646 21019655 1 21 431.47 - - 8 1 1 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 6 3 7 8 26 8 26 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401373 6 21580429 CTT C 329 PASS - - - - - Del - D 21580429 21580434 2 15 324.054 - - 4 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 2 7 3 29 22 29 22 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401386 6 21619645 CA C 540 PASS - - - - - Del - D 21619645 21619654 1 30 484.275 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 4 7 8 25 35 25 35 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401398 6 21646383 AT A 420 PASS - - - - - Del - D 21646383 21646393 1 14 378.063 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 1 9 1 33 3 33 3 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401540 6 21998762 CA C 480 PASS - - - - - Del - D 21998762 21998771 1 21 432.072 - - 8 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 6 2 7 25 29 25 29 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401602 6 22149926 A AC 360 PASS AL008732.1 ENST00000511541 r.? - - Ins upstream I 22149926 22149930 1 15 314.421 - - 3 1 1 AL008732.1|ENST00000511541|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 AL008732.1|ENST00000511541|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 5 10 6 10 0 0 ./. 4 2 4 2 22 16 23 16 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401640 6 22242185 T TA 360 PASS - - - - - Ins - I 22242185 22242194 1 15 320.441 - - 8 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 2 4 4 6 27 20 27 20 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401783 6 22684771 CA C 360 PASS - - - - - Del - D 22684771 22684781 1 12 321.646 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 1 5 3 8 15 30 15 30 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760401991 6 23382114 GT G 300 PASS - - - - - Del - D 23382114 23382116 1 6 270.045 - - 1 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 5 0 8 0 28 0 28 0 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760402452 6 24702856 CT C 300 PASS C6orf62 CCDS4559.1 r.? - - Del downstream D 24702856 24702864 1 12 270.045 - - 7 1 1 C6orf62|CCDS4559.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C6orf62|CCDS4559.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 3 2 4 25 23 25 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760402643 6 25206024 TA T 300 PASS CMAH ENST00000377993 r.? - - Del intronic D 25206024 25206033 1 12 270.045 - - 8 1 1 CMAH|ENST00000377993|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CMAH|ENST00000377993|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 3 2 3 18 21 18 21 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760402654 6 25256579 C CA 420 PASS - - - - - Ins - I 25256579 25256588 1 18 372.644 - - 8 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 5 2 5 26 26 26 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760402658 6 25262732 TA T 300 PASS - - - - - Del - D 25262732 25262741 1 10 270.045 - - 8 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 4 1 5 1 27 14 27 14 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760402671 6 25278016 GA G 300 PASS LRRC16A ENST00000329474 r.? - - Del upstream D 25278016 25278023 1 12 265.83 - - 6 1 1 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 4 2 18 31 18 31 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760402768 6 25459171 CT C 300 PASS LRRC16A ENST00000329474 r.? - - Del intronic D 25459171 25459180 1 12 270.045 - - 8 1 1 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 5 3 17 23 17 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760402803 6 25626665 CT C 420 PASS - - - - - Del - D 25626665 25626672 1 8 378.063 - - 6 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 7 0 7 0 31 3 31 3 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760402895 6 25966440 CT C 360 PASS TRIM38 CCDS4568.1 r.? - - Del intronic D 25966440 25966448 1 15 324.054 - - 7 1 1 TRIM38|CCDS4568.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRIM38|CCDS4568.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 19 4 19 0 0 ./. 4 2 5 2 30 18 30 18 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403029 6 26420915 AT A 360 PASS - - - - - Del - D 26420915 26420925 1 12 324.054 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 1 10 2 28 24 28 24 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403267 6 27065901 TA T 420 PASS - - - - - Del - D 27065901 27065908 1 20 373.246 - - 6 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 4 3 4 9 25 28 25 28 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403392 6 27435374 CA C 300 PASS ZNF184 CCDS4624.1 r.? - - Del intronic D 27435374 27435384 1 12 269.443 - - 9 1 1 ZNF184|CCDS4624.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF184|CCDS4624.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 3 2 5 3 18 25 18 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403393 6 27436795 C CA 269 PASS ZNF184 CCDS4624.1 r.? - - Ins intronic I 27436795 27436804 1 12 267.035 - - 8 1 1 ZNF184|CCDS4624.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF184|CCDS4624.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 5 3 28 17 28 17 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403444 6 27572543 CA C 480 PASS - - - - - Del - D 27572543 27572552 1 21 430.868 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 2 8 4 34 22 34 22 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403467 6 27618588 TA T 360 PASS - - - - - Del - D 27618588 27618598 1 15 324.054 - - 9 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 2 4 2 4 20 28 20 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403630 6 28096360 GA G 360 PASS AL358933.1 CCDS34140.1 r.? - - Del intronic D 28096360 28096369 1 16 324.054 - - 8 1 1 AL358933.1|CCDS34140.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL358933.1|CCDS34140.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 3 3 3 26 16 26 16 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403635 6 28107544 GAGA G 480 PASS ZNF192 CCDS4645.1 r.? - - Del upstream D 28107544 28107551 3 25 432.072 - - 2 1 1 ZNF192|CCDS4645.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZNF192|CCDS4645.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 4 5 4 21 15 21 15 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403675 6 28223390 CT C 420 PASS ZKSCAN4 CCDS4647.1 r.? - - Del upstream D 28223390 28223400 1 18 375.052 - - 9 1 1 ZKSCAN4|CCDS4647.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZKSCAN4|CCDS4647.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 16 7 16 0 0 ./. 2 5 3 5 18 30 18 30 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403770 6 28500911 CA C 600 PASS GPX5 CCDS4652.1 r.? - - Del intronic D 28500911 28500919 1 35 539.488 - - 7 1 1 GPX5|CCDS4652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPX5|CCDS4652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 6 6 9 27 29 27 29 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403813 6 28641153 TA T 420 PASS - - - - - Del - D 28641153 28641161 1 20 378.063 - - 7 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 4 4 6 27 24 27 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403818 6 28664210 A AT 420 PASS - - - - - Ins - I 28664210 28664215 1 20 373.848 - - 4 1 1 - - ./. 0 0 0 0 5 18 6 18 0 0 ./. 3 4 4 6 24 29 24 30 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403853 6 28729859 GA G 300 PASS - - - - - Del - D 28729859 28729868 1 10 270.045 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 1 4 8 25 8 25 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760403927 6 28884941 GA G 300 PASS TRIM27 CCDS4654.1 r.? - - Del intronic D 28884941 28884951 1 10 268.239 - - 9 1 1 TRIM27|CCDS4654.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIM27|CCDS4654.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 1 4 2 5 20 23 20 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760404235 6 29790425 CA C 300 PASS HLA-G CCDS4668.1 r.? - - Del upstream D 29790425 29790435 1 12 270.045 - - 9 1 1 HLA-G|CCDS4668.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HLA-G|CCDS4668.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 4 14 4 14 0 0 ./. 3 2 4 5 22 21 22 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760404524 6 30182618 CT C 480 PASS TRIM26 CCDS4678.1 r.? - - Del upstream D 30182618 30182625 1 9 430.266 - - 6 1 1 TRIM26|CCDS4678.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TRIM26|CCDS4678.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 13 7 13 0 0 ./. 0 8 0 9 16 28 16 28 0 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760404536 6 30197206 CT C 360 PASS - - - - - Del - D 30197206 30197216 1 16 324.054 - - 9 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 3 4 3 21 34 21 34 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760404617 6 30366171 GT G 300 PASS - - - - - Del - D 30366171 30366181 1 12 269.443 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 3 3 5 20 33 20 33 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760404687 6 30450747 TG T 288 PASS - - - - - Del - D 30450747 30450752 1 12 324.054 - - 4 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 1 5 2 5 21 14 21 14 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760405337 6 31775623 C CA 480 PASS HSPA1L CCDS34413.1 r.? - - Ins downstream I 31775623 31775630 1 25 425.449 - - 6 1 1 HSPA1L|CCDS34413.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 LSM2|CCDS4722.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 4 4 6 22 18 22 18 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760405340 6 31780065 T TC 420 PASS HSPA1L CCDS34413.1 r.? - - Ins intronic I 31780065 31780069 1 14 372.644 - - 3 1 1 HSPA1L|CCDS34413.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 HSPA1L|CCDS34413.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 1 6 1 6 22 31 23 31 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760405426 6 32114930 CT C 360 PASS PRRT1 CCDS4739.1 r.? - - Del downstream D 32114930 32114940 1 15 323.452 - - 9 1 1 PRRT1|CCDS4739.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PRRT1|CCDS4739.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 4 2 4 26 21 26 21 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760406107 6 32998084 CAG C 360 PASS - - - - - Del - D 32998084 32998098 2 16 322.248 - - 6 1 - - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 3 4 3 30 25 30 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760406365 6 33519206 AT A 540 PASS - - - - - Del - D 33519206 33519216 1 30 486.081 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 4 5 6 34 30 34 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760406575 6 34192049 AC A 420 PASS - - - - - Del - D 34192049 34192058 1 20 378.063 - - 8 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 4 3 6 30 23 30 23 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760406705 6 34470418 A AT 420 PASS PACSIN1 CCDS4793.1 r.? - - Ins intronic I 34470418 34470425 1 20 360.603 - - 6 1 1 PACSIN1|CCDS4793.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PACSIN1|CCDS4793.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 3 4 6 7 28 29 28 30 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760406729 6 34577553 TCTC T 420 PASS C6orf106 CCDS4796.1 r.? - - Del intronic D 34577553 34577560 3 18 378.063 - - 2 1 1 C6orf106|CCDS4796.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf106|CCDS4796.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 5 2 5 5 32 24 32 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760406874 6 35009691 GA G 300 PASS ANKS1A CCDS4798.1 r.? - - Del intronic D 35009691 35009699 1 12 270.045 - - 7 1 1 ANKS1A|CCDS4798.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1A|CCDS4798.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 4 2 26 25 26 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760406979 6 35393050 CA C 540 PASS PPARD CCDS4804.1 r.1922delA c.? p.? Del 3'UTR variant D 35393050 35393059 1 30 486.081 - - 8 1 1 PPARD|CCDS4804.1|r.1922delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PPARD|CCDS4804.1|r.1922delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 5 5 6 34 32 34 32 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407051 6 35548482 AT A 360 PASS FKBP5 CCDS4808.1 r.? - - Del intronic D 35548482 35548492 1 7 324.054 - - 9 1 1 FKBP5|CCDS4808.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FKBP5|ENST00000373875|r.7071delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 6 11 7 11 0 0 ./. 6 0 6 1 31 10 33 10 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407064 6 35562379 TAC T 300 PASS FKBP5 CCDS4808.1 r.? - - Del intronic D 35562379 35562391 2 10 270.045 - - 5 1 1 FKBP5|CCDS4808.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FKBP5|CCDS4808.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 6 4 37 19 37 19 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407085 6 35613217 TA T 300 PASS FKBP5 CCDS4808.1 r.? - - Del intronic D 35613217 35613225 1 12 265.228 - - 7 1 - FKBP5|CCDS4808.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FKBP5|CCDS4808.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 2 5 3 30 16 30 16 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407273 6 36082522 TA T 300 PASS MAPK14 CCDS4815.1 r.? - - Del downstream D 36082522 36082532 1 10 270.045 - - 9 1 1 MAPK14|CCDS4815.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MAPK14|CCDS4815.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 1 6 3 33 17 33 17 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407283 6 36120162 TC T 300 PASS - - - - - Del - D 36120162 36120168 1 6 270.045 - - 5 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 0 5 0 20 12 20 12 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407539 6 36882973 T TG 360 PASS C6orf89 CCDS4827.1 r.? - - Ins intronic I 36882973 36882981 1 15 319.839 - - 7 1 1 C6orf89|CCDS4827.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C6orf89|CCDS4827.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 12 0 0 ./. 2 4 4 5 23 28 23 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407543 6 36903069 CT C 300 PASS - - - - - Del - D 36903069 36903078 1 6 270.045 - - 8 1 1 - - ./. 0 0 0 0 25 11 25 11 0 0 ./. 0 5 0 8 4 36 4 36 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407588 6 37031289 CA C 300 PASS - - - - - Del - D 37031289 37031299 1 12 270.045 - - 9 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 3 2 4 3 14 3 14 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407693 6 37298421 CA C 360 PASS TBC1D22B CCDS4832.1 r.? - - Del intronic D 37298421 37298430 1 16 324.054 - - 8 1 1 TBC1D22B|CCDS4832.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D22B|CCDS4832.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 3 3 4 22 24 22 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407744 6 37396868 CT C 780 PASS FTSJD2 CCDS4835.1 r.? - - Del upstream D 37396868 37396877 1 56 696.698 - - 8 1 1 FTSJD2|CCDS4835.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 FTSJD2|CCDS4835.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 6 9 6 9 0 0 ./. 6 7 8 11 30 28 30 28 8 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407766 6 37466046 GA G 329 PASS C6orf129 CCDS34441.1 r.? - - Del intronic D 37466046 37466054 1 15 323.452 - - 7 1 1 C6orf129|CCDS34441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf129|CCDS34441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 4 8 8 31 39 31 39 8 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407839 6 37661101 G GA 420 PASS MDGA1 CCDS47417.1 r.? - - Ins intronic I 37661101 37661109 1 18 373.246 - - 7 1 1 MDGA1|CCDS47417.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MDGA1|CCDS47417.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 5 2 9 3 36 22 37 22 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760407945 6 37889148 GT G 329 PASS ZFAND3 CCDS4836.1 r.? - - Del intronic D 37889148 37889158 1 15 324.054 - - 9 1 1 ZFAND3|CCDS4836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFAND3|CCDS4836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 2 4 3 6 10 31 10 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408056 6 38138752 ACTC A 298 PASS BTBD9 CCDS47418.1 r.5997_5999delGAG c.? p.? Del 3'UTR variant D 38138752 38138758 3 7 322.85 - - 1 1 1 BTBD9|CCDS47418.1|r.5997_5999delGAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 BTBD9|CCDS47418.1|r.5997_5999delGAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 5 9 5 9 0 0 ./. 6 0 9 0 39 5 39 5 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408075 6 38191120 AT A 360 PASS BTBD9 CCDS47418.1 r.? - - Del intronic D 38191120 38191128 1 15 324.054 - - 7 1 1 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 4 4 6 28 29 28 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408109 6 38323869 C CT 360 PASS BTBD9 CCDS47418.1 r.? - - Ins intronic I 38323869 38323879 1 15 320.441 - - 9 1 1 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 4 4 6 17 28 17 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408196 6 38662028 GA G 540 PASS GLO1 CCDS4837.1 r.? - - Del intronic D 38662028 38662038 1 42 592.895 - - 9 1 1 GLO1|CCDS4837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLO1|CCDS4837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 6 5 10 28 27 28 27 5 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408361 6 39124531 GA G 480 PASS - - - - - Del - D 39124531 39124538 1 24 432.072 - - 6 1 1 - - ./. 0 0 0 0 12 3 12 3 0 0 ./. 3 5 3 6 33 28 33 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408383 6 39202404 CT C 269 PASS - - - - - Del - D 39202404 39202414 1 12 270.045 - - 9 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 6 3 27 14 27 14 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408442 6 39376283 TA T 300 PASS KIF6 CCDS4844.1 r.? - - Del intronic D 39376283 39376290 1 10 270.045 - - 6 1 1 KIF6|CCDS4844.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF6|CCDS4844.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 4 1 4 20 25 20 25 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408472 6 39555287 A ATC 360 PASS KIF6 CCDS4844.1 r.? - - Ins intronic I 39555287 39555300 2 15 312.615 - - 6 1 1 KIF6|CCDS4844.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIF6|CCDS4844.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 2 5 4 23 19 24 19 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408558 6 39871116 AG A 480 PASS MOCS1 CCDS4846.1 r.? - - Del downstream D 39871116 39871123 1 24 430.266 - - 6 1 1 MOCS1|CCDS4846.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DAAM2|ENST00000398904|r.4693delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 3 6 4 30 25 30 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408559 6 39871524 C CG 300 PASS MOCS1 CCDS4846.1 r.? - - Ins downstream I 39871524 39871532 1 12 262.218 - - 7 1 1 MOCS1|CCDS4846.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 DAAM2|ENST00000398904|r.5100_5101insg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 4 5 23 27 23 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408590 6 40015443 CT C 420 PASS - - - - - Del - D 40015443 40015452 1 20 378.063 - - 8 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 3 5 4 31 21 31 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408655 6 40236166 GC G 420 PASS - - - - - Del - D 40236166 40236172 1 20 378.063 - - 5 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 4 3 5 6 16 30 16 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408702 6 40393632 TG T 480 PASS LRFN2 CCDS34443.1 r.? - - Del intronic D 40393632 40393637 1 21 432.072 - - 4 1 1 LRFN2|CCDS34443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRFN2|CCDS34443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 6 3 7 40 40 40 40 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408762 6 40642772 CT C 360 PASS - - - - - Del - D 40642772 40642781 1 12 321.044 - - 8 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 1 5 3 6 25 20 25 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408802 6 40876834 CT C 300 PASS - - - - - Del - D 40876834 40876841 1 10 270.045 - - 6 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 4 1 5 2 24 33 24 33 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408821 6 40984965 TA T 360 PASS - - - - - Del - D 40984965 40984975 1 15 324.054 - - 9 1 1 - - ./. 0 0 0 0 14 5 14 5 0 0 ./. 2 4 5 5 30 28 30 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760408856 6 41174937 GA G 360 PASS - - - - - Del - D 41174937 41174946 1 15 323.452 - - 8 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 4 3 4 26 26 26 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760409062 6 41902385 CT C 360 PASS CCND3 CCDS47426.1 r.? - - Del downstream D 41902385 41902395 1 7 324.054 - - 9 1 1 CCND3|CCDS47426.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 CCND3|CCDS47426.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 0 9 0 24 21 24 21 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760409115 6 41973738 CA C 300 PASS CCND3 CCDS47426.1 r.? - - Del intronic D 41973738 41973745 1 10 262.218 - - 6 1 1 CCND3|CCDS47426.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCND3|CCDS47426.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 1 4 1 4 1 27 1 27 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760409172 6 42106736 A AT 420 PASS C6orf132 CCDS47428.1 r.? - - Ins intronic I 42106736 42106744 1 20 373.848 - - 7 1 1 C6orf132|CCDS47428.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C6orf132|CCDS47428.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 3 4 3 35 20 35 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760409303 6 42489647 TA T 360 PASS - - - - - Del - D 42489647 42489657 1 15 321.044 - - 9 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 2 4 2 6 26 21 26 21 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760409433 6 42751167 TG T 478 PASS KIAA0240 CCDS34451.1 r.? - - Del intronic D 42751167 42751175 1 28 484.877 - - 7 1 1 KIAA0240|CCDS34451.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA0240|CCDS34451.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 6 4 6 26 32 26 32 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760409443 6 42776746 AT A 480 PASS KIAA0240 CCDS34451.1 r.? - - Del intronic D 42776746 42776754 1 21 432.072 - - 7 1 1 KIAA0240|CCDS34451.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA0240|CCDS34451.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 6 3 8 18 33 18 33 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760409482 6 42910293 CA C 300 PASS CNPY3 CCDS4875.1 r.? - - Del downstream D 42910293 42910303 1 12 267.035 - - 9 1 1 CNPY3|CCDS4875.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CNPY3|ENST00000336842|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 2 5 4 23 29 23 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760409684 6 43496796 G GA 300 PASS XPO5 CCDS47430.1 r.? - - Ins intronic I 43496796 43496803 1 10 265.83 - - 6 1 1 XPO5|CCDS47430.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XPO5|CCDS47430.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 4 2 4 12 25 13 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410090 6 44746691 AT A 480 PASS - - - - - Del - D 44746691 44746699 1 25 432.072 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 4 4 7 34 30 34 30 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410164 6 44947279 T TC 420 PASS SUPT3H CCDS34466.1 r.? - - Ins intronic I 44947279 44947280 1 20 372.644 - - 0 1 1 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 4 3 4 25 24 25 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410207 6 45077086 TA T 300 PASS SUPT3H CCDS34466.1 r.? - - Del intronic D 45077086 45077096 1 6 270.045 - - 9 1 1 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 10 20 10 0 0 ./. 0 5 1 7 5 20 5 20 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410282 6 45283008 CA C 360 PASS SUPT3H CCDS34466.1 r.? - - Del intronic D 45283008 45283018 1 16 323.452 - - 9 1 1 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 5 4 37 27 37 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410314 6 45358810 G GA 300 PASS RUNX2 CCDS43467.1 r.? - - Ins intronic I 45358810 45358817 1 12 264.626 - - 6 1 1 RUNX2|CCDS43467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RUNX2|CCDS43467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 3 4 27 14 27 14 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410354 6 45516250 TA T 360 PASS RUNX2 CCDS43467.1 r.2985delA c.? p.? Del 3'UTR variant D 45516250 45516257 1 12 320.441 - - 6 1 1 RUNX2|CCDS43467.1|r.2985delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 RUNX2|CCDS43467.1|r.2985delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 1 7 1 35 4 35 4 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410367 6 45542645 GA G 300 PASS AL161907.3 ENST00000513698 r.? - - Del intronic D 45542645 45542655 1 10 270.045 - - 9 1 1 AL161907.3|ENST00000513698|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL161907.3|ENST00000513698|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 4 2 7 20 34 20 34 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410391 6 45675618 T TG 480 PASS - - - - - Ins - I 45675618 45675623 1 24 425.449 - - 4 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 3 5 4 5 24 24 24 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410444 6 45864646 TA T 420 PASS CLIC5 CCDS47438.1 r.? - - Del downstream D 45864646 45864654 1 18 378.063 - - 7 1 1 CLIC5|CCDS47438.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CLIC5|CCDS47438.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 10 5 10 0 0 ./. 5 2 6 3 29 21 29 21 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410457 6 45904798 CA C 480 PASS CLIC5 CCDS47438.1 r.? - - Del intronic D 45904798 45904808 1 21 430.266 - - 9 1 1 CLIC5|CCDS47438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLIC5|CCDS47438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 6 3 6 22 27 22 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410468 6 45935526 AAG A 600 PASS CLIC5 CCDS47438.1 r.? - - Del intronic D 45935526 45935545 2 32 540.09 - - 9 1 1 CLIC5|CCDS47438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLIC5|CCDS47438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 7 7 8 33 27 33 27 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410516 6 46119085 TA T 300 PASS ENPP4 CCDS34468.1 r.? - - Del downstream D 46119085 46119095 1 12 270.045 - - 9 1 1 ENPP4|CCDS34468.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENPP4|CCDS34468.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 4 3 23 13 23 13 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410542 6 46208614 GA G 360 PASS RCAN2 CCDS43469.1 r.? - - Del intronic D 46208614 46208622 1 16 324.054 - - 7 1 1 RCAN2|CCDS43469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RCAN2|CCDS43469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 3 4 3 31 26 31 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410793 6 47230250 TG T 300 PASS TNFRSF21 CCDS4921.1 r.? - - Del intronic D 47230250 47230257 1 12 270.045 - - 6 1 1 TNFRSF21|CCDS4921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNFRSF21|CCDS4921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 2 3 3 4 23 33 23 33 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410974 6 47682960 CA C 360 PASS GPR115 CCDS4922.2 r.? - - Del intronic D 47682960 47682968 1 16 324.054 - - 7 1 1 GPR115|CCDS4922.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR115|CCDS4922.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 3 4 3 24 20 24 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760410999 6 47746797 GA G 420 PASS OPN5 CCDS4923.1 r.? - - Del upstream D 47746797 47746807 1 18 376.257 - - 9 1 1 OPN5|CCDS4923.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 OPN5|CCDS4923.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 20 15 20 0 0 ./. 2 5 4 8 20 36 20 36 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760411200 6 48489365 TA T 420 PASS - - - - - Del - D 48489365 48489375 1 18 378.063 - - 9 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 5 2 6 26 25 26 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760411246 6 48665165 CA C 420 PASS - - - - - Del - D 48665165 48665174 1 18 378.063 - - 8 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 5 2 7 2 30 13 30 13 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760411460 6 49530902 GC G 420 PASS - - - - - Del - D 49530902 49530909 1 18 378.063 - - 6 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 5 4 5 25 23 25 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760411479 6 49577603 TA T 300 PASS RHAG CCDS4927.1 r.? - - Del intronic D 49577603 49577613 1 10 270.045 - - 9 1 1 RHAG|CCDS4927.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RHAG|CCDS4927.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 4 5 21 22 21 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760411550 6 49871743 CT C 360 PASS - - - - - Del - D 49871743 49871753 1 12 322.85 - - 9 1 1 - - ./. 0 0 0 0 16 6 16 6 0 0 ./. 1 5 1 5 7 27 7 27 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760411559 6 49908532 AT A 254 PASS - - - - - Del - D 49908532 49908540 1 12 270.045 - - 7 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 5 3 22 17 22 17 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760411716 6 50545534 TA T 300 PASS - - - - - Del - D 50545534 50545543 1 12 270.045 - - 8 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 2 3 2 4 8 25 8 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760411717 6 50546072 GA G 360 PASS - - - - - Del - D 50546072 50546080 1 12 324.054 - - 7 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 5 1 9 3 36 21 36 21 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760411770 6 50762133 CCT C 300 PASS - - - - - Del - D 50762133 50762149 2 12 267.637 - - 7 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 3 5 4 24 27 24 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760411858 6 51073984 CA C 420 PASS - - - - - Del - D 51073984 51073991 1 18 376.859 - - 6 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 5 2 5 2 24 8 24 8 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412118 6 52001578 GA G 360 PASS - - - - - Del - D 52001578 52001587 1 7 324.054 - - 8 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 0 6 1 9 14 33 14 33 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412233 6 52346991 AT A 329 PASS EFHC1 CCDS4942.1 r.? - - Del intronic D 52346991 52346994 1 12 324.054 - - 2 1 1 EFHC1|CCDS4942.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EFHC1|CCDS4942.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 1 5 3 5 9 25 9 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412276 6 52460944 CT C 300 PASS - - - - - Del - D 52460944 52460953 1 10 269.443 - - 8 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 1 6 3 28 16 28 16 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412332 6 52550399 AG A 360 PASS TMEM14A CCDS4943.1 r.? - - Del intronic D 52550399 52550402 1 16 323.452 - - 2 1 1 TMEM14A|CCDS4943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM14A|CCDS4943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 3 6 7 31 30 31 30 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412397 6 52843612 GA G 629 PASS GSTA4 CCDS4948.1 r.? - - Del intronic D 52843612 52843622 1 42 590.486 - - 9 1 1 GSTA4|CCDS4948.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GSTA4|CCDS4948.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 5 6 6 17 31 17 31 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412534 6 53217282 TC T 540 PASS ELOVL5 CCDS4951.1 r.? - - Del upstream D 53217282 53217289 1 30 486.081 - - 6 1 1 ELOVL5|CCDS4951.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ELOVL5|CCDS4951.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 5 6 8 38 26 38 26 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412813 6 54166208 CA C 360 PASS - - - - - Del - D 54166208 54166218 1 12 324.054 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 5 2 6 19 26 19 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412853 6 54375544 CA C 360 PASS - - - - - Del - D 54375544 54375550 1 7 324.054 - - 5 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 0 6 0 6 0 18 0 18 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412857 6 54396622 A AT 296 PASS - - - - - Ins - I 54396622 54396631 1 18 373.848 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 5 2 7 24 35 24 35 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412906 6 54555782 CT C 337 PASS - - - - - Del - D 54555782 54555791 1 15 324.054 - - 8 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 4 4 4 31 20 31 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412965 6 54722689 GA G 480 PASS FAM83B CCDS34479.1 r.? - - Del intronic D 54722689 54722698 1 21 432.072 - - 8 1 1 FAM83B|CCDS34479.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM83B|CCDS34479.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 6 2 7 3 31 20 31 20 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760412989 6 54788628 CTT C 269 PASS FAM83B CCDS34479.1 r.? - - Del intronic D 54788628 54788632 2 10 270.045 - - 3 1 1 FAM83B|CCDS34479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM83B|CCDS34479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 4 1 5 22 13 22 13 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760413116 6 55137582 C CA 360 PASS HCRTR2 CCDS4956.1 r.? - - Ins intronic I 55137582 55137589 1 16 320.441 - - 6 1 1 HCRTR2|CCDS4956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HCRTR2|CCDS4956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 3 3 3 24 16 24 16 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760413139 6 55186101 GT G 300 PASS - - - - - Del - D 55186101 55186111 1 10 268.841 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 6 2 32 30 32 30 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760413154 6 55244771 TA T 300 PASS GFRAL CCDS4957.1 r.? - - Del intronic D 55244771 55244779 1 12 270.045 - - 7 1 1 GFRAL|CCDS4957.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GFRAL|CCDS4957.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 2 4 3 30 16 30 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760413204 6 55403486 A AT 300 PASS HMGCLL1 CCDS43475.1 r.? - - Ins intronic I 55403486 55403495 1 10 267.035 - - 8 1 1 HMGCLL1|CCDS43475.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HMGCLL1|CCDS43475.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 1 4 2 4 19 18 20 18 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760413525 6 56510302 CA C 360 PASS DST CCDS47441.1 r.? - - Del intronic D 56510302 56510310 1 15 323.452 - - 7 1 1 DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 5 3 26 33 26 33 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760413537 6 56559545 TG T 360 PASS DST CCDS47441.1 r.? - - Del intronic D 56559545 56559552 1 16 324.054 - - 6 1 1 DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 3 3 5 4 20 14 20 14 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760413931 6 57331775 TAGG T 569 PASS PRIM2 ENST00000425433 r.? - - Del intronic D 57331775 57331781 3 35 540.09 - - 1 1 1 PRIM2|ENST00000425433|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRIM2|ENST00000425433|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 22 28 22 0 0 ./. 6 4 7 5 61 56 61 56 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760414896 6 58173514 G GT 420 PASS - - - - - Ins - I 58173514 58173522 1 14 373.848 - - 7 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 6 1 7 26 31 26 31 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760415008 6 58585400 AG A 360 PASS - - - - - Del - D 58585400 58585407 1 15 324.054 - - 6 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 4 2 6 3 27 31 27 31 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760415038 6 58660885 TA T 300 PASS - - - - - Del - D 58660885 58660892 1 12 270.045 - - 6 1 1 - - ./. 0 0 0 0 3 20 3 20 0 0 ./. 3 2 3 2 24 25 24 25 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760415194 6 61880563 C CA 420 PASS - - - - - Ins - I 61880563 61880569 1 18 370.236 - - 5 1 1 - - ./. 0 0 0 0 9 15 9 16 0 0 ./. 5 2 5 5 17 23 17 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760415301 6 62215329 CT C 420 PASS - - - - - Del - D 62215329 62215336 1 8 378.063 - - 6 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 7 0 8 1 33 23 33 23 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760415434 6 62587353 TG T 300 PASS KHDRBS2 CCDS4963.1 r.? - - Del intronic D 62587353 62587355 1 10 270.045 - - 1 1 - KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 1 4 1 8 7 31 7 31 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760415442 6 62605224 CA C 360 PASS KHDRBS2 CCDS4963.1 r.? - - Del intronic D 62605224 62605234 1 12 324.054 - - 9 1 1 KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 1 8 1 33 6 33 6 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760415575 6 63216252 CT C 420 PASS - - - - - Del - D 63216252 63216261 1 14 376.859 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 1 6 2 24 14 24 14 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760415588 6 63356853 TG T 420 PASS - - - - - Del - D 63356853 63356860 1 14 378.063 - - 6 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 6 1 7 3 37 29 37 29 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760415638 6 63584650 AG A 300 PASS - - - - - Del - D 63584650 63584657 1 12 270.045 - - 6 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 3 3 32 21 32 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760415742 6 64051646 CT C 480 PASS - - - - - Del - D 64051646 64051656 1 21 431.47 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 6 6 7 32 25 32 25 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760416131 6 65409035 TA T 360 PASS EYS CCDS47445.1 r.? - - Del intronic D 65409035 65409043 1 16 324.054 - - 7 1 1 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 3 3 3 23 22 23 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760416139 6 65426659 AT A 540 PASS EYS CCDS47445.1 r.? - - Del intronic D 65426659 65426669 1 28 478.254 - - 9 1 1 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 6 4 7 25 37 25 37 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760416255 6 66001427 TA T 480 PASS EYS CCDS47445.1 r.? - - Del intronic D 66001427 66001435 1 21 432.072 - - 7 1 1 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 19 7 19 0 0 ./. 6 2 8 5 33 28 33 28 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760416349 6 66319964 TC T 300 PASS EYS CCDS47446.1 r.? - - Del intronic D 66319964 66319966 1 12 270.045 - - 1 1 1 EYS|CCDS47446.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 EYS|CCDS47446.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 3 4 19 22 19 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760416382 6 66535800 AT A 360 PASS - - - - - Del - D 66535800 66535809 1 12 324.054 - - 8 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 1 5 1 7 2 21 2 21 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760416945 6 68064059 GA G 300 PASS - - - - - Del - D 68064059 68064066 1 12 270.045 - - 6 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 8 4 25 25 25 25 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760416977 6 68199661 CA C 720 PASS - - - - - Del - D 68199661 68199667 1 48 647.506 - - 5 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 7 5 8 6 26 28 26 28 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760417152 6 68762052 TA T 300 PASS - - - - - Del - D 68762052 68762059 1 12 270.045 - - 6 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 2 3 11 23 11 23 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760417164 6 68826389 GA G 420 PASS - - - - - Del - D 68826389 68826398 1 18 378.063 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 5 4 6 19 22 19 22 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760417325 6 69367306 TA T 300 PASS BAI3 CCDS4968.1 r.? - - Del intronic D 69367306 69367312 1 12 270.045 - - 5 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 3 3 5 21 14 21 14 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760417331 6 69410251 CT C 420 PASS BAI3 CCDS4968.1 r.? - - Del intronic D 69410251 69410261 1 18 378.063 - - 9 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 2 5 3 22 21 22 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760417382 6 69563636 CA C 300 PASS BAI3 CCDS4968.1 r.? - - Del intronic D 69563636 69563646 1 12 270.045 - - 9 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 2 3 3 24 16 24 16 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760417458 6 69763075 TA T 300 PASS BAI3 CCDS4968.1 r.? - - Del intronic D 69763075 69763085 1 12 270.045 - - 9 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 2 4 4 27 16 27 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760417651 6 70435108 C CA 300 PASS LMBRD1 CCDS4969.1 r.? - - Ins intronic I 70435108 70435116 1 10 267.035 - - 7 1 1 LMBRD1|CCDS4969.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LMBRD1|CCDS4969.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 1 4 4 4 21 22 21 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760417756 6 70893336 T TA 360 PASS COL19A1 CCDS4970.1 r.? - - Ins intronic I 70893336 70893343 1 15 320.441 - - 6 1 1 COL19A1|CCDS4970.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL19A1|CCDS4970.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 4 3 4 25 31 26 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760417762 6 70902209 G GT 420 PASS COL19A1 CCDS4970.1 r.? - - Ins intronic I 70902209 70902218 1 18 373.848 - - 8 1 1 COL19A1|CCDS4970.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL19A1|CCDS4970.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 5 3 9 27 24 27 25 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760417884 6 71416176 A AT 300 PASS SMAP1 CCDS43478.1 r.? - - Ins intronic I 71416176 71416179 1 6 267.035 - - 2 1 1 SMAP1|CCDS43478.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMAP1|CCDS43478.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 0 5 0 5 15 31 15 32 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760417988 6 71823393 AT A 360 PASS - - - - - Del - D 71823393 71823401 1 16 324.054 - - 7 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 3 4 6 22 32 22 32 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418005 6 71932777 AT A 420 PASS - - - - - Del - D 71932777 71932787 1 20 378.063 - - 9 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 3 8 3 35 23 35 23 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418206 6 72670596 GA G 300 PASS RIMS1 CCDS47449.1 r.? - - Del intronic D 72670596 72670606 1 6 270.045 - - 9 1 1 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 0 5 1 33 21 33 21 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418224 6 72777990 CT C 420 PASS RIMS1 CCDS47449.1 r.? - - Del intronic D 72777990 72777999 1 8 378.063 - - 8 1 1 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 0 9 1 31 12 31 12 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418264 6 72917545 AT A 600 PASS RIMS1 CCDS47449.1 r.? - - Del intronic D 72917545 72917552 1 32 538.284 - - 6 1 1 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 7 3 7 4 27 21 27 21 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418319 6 73155904 TA T 420 PASS - - - - - Del - D 73155904 73155914 1 20 376.859 - - 9 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 4 5 4 39 28 39 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418422 6 73503042 CA C 360 PASS KCNQ5 CCDS4976.1 r.? - - Del intronic D 73503042 73503052 1 15 324.054 - - 9 1 1 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 4 2 4 16 25 16 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418486 6 73811959 G GA 360 PASS KCNQ5 CCDS4976.1 r.? - - Ins intronic I 73811959 73811967 1 16 320.441 - - 7 1 1 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 3 3 3 35 23 36 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418498 6 73858660 AAT A 480 PASS KCNQ5 CCDS4976.1 r.? - - Del intronic D 73858660 73858664 2 24 431.47 - - 1 1 1 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 8 19 8 0 0 ./. 3 5 3 6 29 24 29 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418543 6 73930297 CA C 300 PASS KHDC1 CCDS47450.1 r.? - - Del intronic D 73930297 73930305 1 10 270.045 - - 7 1 1 KHDC1|CCDS47450.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 KHDC1|CCDS47450.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 4 1 7 1 27 9 27 9 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418611 6 74100893 AT A 300 PASS DDX43 CCDS4977.1 r.? - - Del upstream D 74100893 74100902 1 6 270.045 - - 8 1 1 DDX43|CCDS4977.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 OOEP|ENST00000370363|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 4 16 4 0 0 ./. 5 0 7 0 31 2 31 2 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418677 6 74244974 TA T 329 PASS - - - - - Del - D 74244974 74244983 1 12 324.054 - - 8 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 1 5 2 6 16 35 16 35 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418734 6 74356115 AT A 300 PASS SLC17A5 CCDS4981.1 r.? - - Del intronic D 74356115 74356125 1 6 270.045 - - 9 1 1 SLC17A5|CCDS4981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC17A5|CCDS4981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 0 5 0 19 6 19 6 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418766 6 74422197 CT C 300 PASS CD109 CCDS4982.1 r.? - - Del intronic D 74422197 74422207 1 10 270.045 - - 9 1 1 CD109|CCDS4982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD109|CCDS4982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 1 4 2 4 23 18 23 18 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418802 6 74587428 GA G 360 PASS - - - - - Del - D 74587428 74587436 1 15 324.054 - - 7 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 4 3 6 25 22 25 22 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418880 6 74923544 TG T 360 PASS - - - - - Del - D 74923544 74923551 1 15 324.054 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 2 4 3 22 30 22 30 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760418970 6 75424308 A AG 300 PASS - - - - - Ins - I 75424308 75424315 1 10 267.035 - - 6 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 4 1 5 1 14 3 14 3 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760419040 6 75866248 TA T 300 PASS COL12A1 CCDS43482.1 r.3294-10delu c.2984-10delt p.? Del splice region D 75866248 75866253 1 12 270.045 - - 4 1 1 COL12A1|CCDS43482.1|r.3294-10delu|c.2984-10delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 COL12A1|CCDS43482.1|r.3294-10delu|c.2984-10delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 3 3 3 21 13 21 13 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760419041 6 75884273 CA C 480 PASS COL12A1 CCDS43482.1 r.? - - Del intronic D 75884273 75884283 1 21 432.072 - - 9 1 1 COL12A1|CCDS43482.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL12A1|CCDS43482.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 6 2 9 5 31 29 31 29 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760419071 6 75973684 T TA 300 PASS TMEM30A CCDS47453.1 r.? - - Ins intronic I 75973684 75973691 1 6 267.035 - - 6 1 1 TMEM30A|CCDS47453.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM30A|CCDS47453.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 12 6 12 0 0 ./. 5 0 6 0 29 1 29 1 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760419085 6 76017044 CT C 300 PASS FILIP1 CCDS4984.1 r.? - - Del downstream D 76017044 76017053 1 12 270.045 - - 8 1 1 FILIP1|CCDS4984.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FILIP1|ENST00000393004|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 3 2 3 3 21 25 21 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760419158 6 76265731 GA G 360 PASS - - - - - Del - D 76265731 76265740 1 15 323.452 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 4 4 4 15 25 15 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760419193 6 76345762 TA T 300 PASS SENP6 CCDS47454.1 r.? - - Del intronic D 76345762 76345772 1 10 270.045 - - 9 1 1 SENP6|CCDS47454.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SENP6|CCDS47454.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 1 4 3 6 13 28 13 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760419294 6 76638339 TA T 300 PASS IMPG1 CCDS4985.1 r.? - - Del intronic D 76638339 76638348 1 10 270.045 - - 8 1 1 IMPG1|CCDS4985.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IMPG1|CCDS4985.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 1 4 1 35 37 35 37 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760419440 6 77350654 TA T 600 PASS - - - - - Del - D 77350654 77350664 1 35 540.09 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 4 6 5 27 20 27 20 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760419468 6 77451160 AT A 269 PASS - - - - - Del - D 77451160 77451169 1 10 270.045 - - 8 1 1 - - ./. 0 0 0 0 14 24 14 24 0 0 ./. 4 1 5 1 36 3 36 3 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760419885 6 78875522 C CT 300 PASS - - - - - Ins - I 78875522 78875529 1 12 267.035 - - 6 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 2 3 3 3 16 15 16 15 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760419912 6 78944253 GGA G 300 PASS - - - - - Del - D 78944253 78944260 2 10 270.045 - - 3 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 4 2 7 23 33 23 33 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420032 6 79291655 CA C 420 PASS - - - - - Del - D 79291655 79291665 1 18 378.063 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 2 6 2 29 7 29 7 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420135 6 79713405 TA T 300 PASS PHIP CCDS4987.1 r.? - - Del intronic D 79713405 79713415 1 10 268.841 - - 9 1 1 PHIP|CCDS4987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHIP|CCDS4987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 16 21 16 0 0 ./. 1 4 1 5 8 12 8 12 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420244 6 80191212 TA T 540 PASS LCA5 CCDS4990.1 r.? - - Del downstream D 80191212 80191221 1 18 486.081 - - 8 1 1 LCA5|CCDS4990.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LCA5|CCDS4990.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 8 4 9 19 32 19 32 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420252 6 80226697 CA C 300 PASS LCA5 CCDS4990.1 r.? - - Del intronic D 80226697 80226706 1 10 270.045 - - 8 1 1 LCA5|CCDS4990.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LCA5|CCDS4990.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 1 6 1 31 1 31 1 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420328 6 80499316 GT G 269 PASS - - - - - Del - D 80499316 80499325 1 10 253.187 - - 8 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 1 4 1 6 23 28 23 28 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420520 6 81118431 AT A 300 PASS - - - - - Del - D 81118431 81118438 1 12 270.045 - - 6 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 2 3 4 5 21 26 21 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420526 6 81165947 AG A 300 PASS - - - - - Del - D 81165947 81165949 1 12 270.045 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 2 4 19 24 19 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420541 6 81252783 G GAT 360 PASS - - - - - Ins - I 81252783 81252795 2 16 316.829 - - 5 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 3 5 3 33 23 33 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420544 6 81265464 CT C 300 PASS - - - - - Del - D 81265464 81265474 1 12 270.045 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 2 3 3 32 25 32 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420652 6 81917274 C CA 540 PASS - - - - - Ins - I 81917274 81917281 1 24 480.06 - - 6 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 7 2 7 29 31 29 31 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420654 6 81977522 TA T 300 PASS - - - - - Del - D 81977522 81977532 1 12 270.045 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 3 3 11 10 11 10 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420671 6 82086664 G GA 300 PASS - - - - - Ins - I 82086664 82086668 1 6 266.432 - - 3 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 0 5 1 5 24 26 24 27 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420686 6 82159845 CT C 360 PASS - - - - - Del - D 82159845 82159854 1 12 324.054 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 5 1 5 1 22 18 22 18 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420850 6 82853557 CT C 360 PASS - - - - - Del - D 82853557 82853567 1 15 324.054 - - 9 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 4 2 5 20 33 20 33 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420917 6 83033623 G GT 300 PASS - - - - - Ins - I 83033623 83033633 1 6 265.228 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 0 5 0 5 3 30 3 30 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760420919 6 83039224 GC G 300 PASS - - - - - Del - D 83039224 83039231 1 6 270.045 - - 6 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 5 0 6 3 31 18 31 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421128 6 83876277 CA C 660 PASS DOPEY1 CCDS4996.1 r.? - - Del intronic D 83876277 83876287 1 36 594.099 - - 9 1 1 DOPEY1|CCDS4996.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PGM3|ENST00000513973|r.4421delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 8 4 11 25 28 25 28 4 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421149 6 83988718 TC T 300 PASS ME1 CCDS34492.1 r.? - - Del intronic D 83988718 83988726 1 10 270.045 - - 7 1 1 ME1|CCDS34492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ME1|CCDS34492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 1 4 2 5 22 31 22 31 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421234 6 84302874 G GA 420 PASS SNAP91 CCDS47455.1 r.? - - Ins intronic I 84302874 84302883 1 20 373.246 - - 8 1 1 SNAP91|CCDS47455.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNAP91|CCDS47455.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 5 15 5 0 0 ./. 3 4 4 5 35 32 35 32 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421263 6 84395634 CT C 540 PASS SNAP91 CCDS47455.1 r.? - - Del intronic D 84395634 84395644 1 28 486.081 - - 9 1 1 SNAP91|CCDS47455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNAP91|CCDS47455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 6 3 7 28 30 28 30 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421314 6 84616806 CT C 360 PASS CYB5R4 CCDS5000.2 r.? - - Del intronic D 84616806 84616815 1 12 324.054 - - 8 1 1 CYB5R4|CCDS5000.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYB5R4|CCDS5000.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 1 6 2 27 20 27 20 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421318 6 84634953 TG T 360 PASS CYB5R4 CCDS5000.2 r.? - - Del intronic D 84634953 84634959 1 15 322.85 - - 5 1 1 CYB5R4|CCDS5000.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYB5R4|CCDS5000.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 4 2 7 14 23 14 23 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421394 6 85021781 CT C 300 PASS - - - - - Del - D 85021781 85021791 1 12 270.045 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 4 3 22 13 22 13 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421494 6 85326485 TA T 480 PASS - - - - - Del - D 85326485 85326492 1 24 432.072 - - 6 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 5 3 6 5 36 19 36 19 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421638 6 85897118 C CT 480 PASS - - - - - Ins - I 85897118 85897122 1 21 422.439 - - 3 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 6 2 6 24 26 24 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421642 6 85910198 TG T 449 PASS - - - - - Del - D 85910198 85910200 1 25 432.072 - - 1 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 4 5 4 20 17 20 17 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421782 6 86349424 CA C 300 PASS SYNCRIP CCDS5005.1 r.? - - Del intronic D 86349424 86349434 1 10 270.045 - - 9 1 1 SYNCRIP|CCDS5005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYNCRIP|CCDS5005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 1 5 2 27 27 27 27 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421831 6 86474373 GT G 360 PASS - - - - - Del - D 86474373 86474380 1 12 324.054 - - 6 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 5 1 5 3 38 18 38 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421843 6 86513120 C CA 300 PASS - - - - - Ins - I 86513120 86513129 1 12 266.432 - - 8 1 1 - - ./. 0 0 0 0 8 3 8 4 0 0 ./. 2 3 2 3 26 26 26 26 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421890 6 86789862 TG T 360 PASS - - - - - Del - D 86789862 86789868 1 15 324.054 - - 5 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 2 6 3 21 18 21 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421898 6 86817381 GT G 360 PASS - - - - - Del - D 86817381 86817391 1 16 322.85 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 3 6 3 27 17 27 17 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421904 6 86845310 CT C 540 PASS - - - - - Del - D 86845310 86845320 1 28 486.081 - - 9 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 6 4 7 20 23 20 23 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760421984 6 87197933 CTG C 360 PASS - - - - - Del - D 87197933 87197937 2 12 324.054 - - 1 1 1 - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 5 1 5 3 24 17 24 17 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760422172 6 87776682 AT A 449 PASS - - - - - Del - D 87776682 87776690 1 24 432.072 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 5 6 5 24 25 24 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760422174 6 87784597 TA T 480 PASS - - - - - Del - D 87784597 87784605 1 24 432.072 - - 7 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 5 4 6 18 32 18 32 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760422209 6 87864659 AGAG A 300 PASS ZNF292 CCDS47457.1 r.? - - Del upstream D 87864659 87864669 3 12 270.045 - - 3 1 1 ZNF292|CCDS47457.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ZNF292|CCDS47457.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 2 4 2 29 14 29 14 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760422361 6 88262351 TA T 540 PASS RARS2 CCDS5011.1 r.? - - Del intronic D 88262351 88262360 1 28 486.081 - - 8 1 1 RARS2|CCDS5011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RARS2|CCDS5011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 6 7 8 26 18 26 18 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760422473 6 88559612 C CA 420 PASS - - - - - Ins - I 88559612 88559615 1 8 373.848 - - 2 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 0 7 2 8 17 30 17 30 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760422511 6 88727536 CA C 300 PASS - - - - - Del - D 88727536 88727546 1 12 270.045 - - 9 1 - - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 2 5 3 13 19 13 19 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760422770 6 89814263 AT A 300 PASS SFRS13B CCDS47459.1 r.? - - Del intronic D 89814263 89814273 1 12 270.045 - - 9 1 1 SFRS13B|CCDS47459.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFRS13B|CCDS47459.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 2 5 6 23 16 23 16 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760422940 6 90320852 AG A 300 PASS ANKRD6 CCDS47460.1 r.? - - Del intronic D 90320852 90320858 1 12 269.443 - - 5 1 1 ANKRD6|CCDS47460.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD6|CCDS47460.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 2 3 2 6 20 27 20 27 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423129 6 90678939 A AT 300 PASS BACH2 CCDS5026.1 r.? - - Ins intronic I 90678939 90678947 1 10 264.626 - - 7 1 1 BACH2|CCDS5026.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BACH2|CCDS5026.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 1 4 2 5 25 25 25 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423145 6 90723467 T TC 360 PASS BACH2 CCDS5026.1 r.? - - Ins intronic I 90723467 90723474 1 15 320.441 - - 6 1 1 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 12 0 0 ./. 4 2 4 2 27 19 27 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423192 6 90933365 G GT 300 PASS BACH2 CCDS5026.1 r.? - - Ins intronic I 90933365 90933373 1 10 267.035 - - 7 1 1 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 21 10 21 0 0 ./. 4 1 4 1 28 22 28 22 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423290 6 91336034 GT G 435 PASS - - - - - Del - D 91336034 91336043 1 24 432.072 - - 8 1 1 - - ./. 0 0 0 0 22 18 22 18 0 0 ./. 5 3 7 4 22 18 22 18 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423395 6 91805405 CT C 480 PASS - - - - - Del - D 91805405 91805414 1 24 432.072 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 5 4 6 23 26 23 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423468 6 92102036 T TA 300 PASS - - - - - Ins - I 92102036 92102045 1 6 265.228 - - 8 1 1 - - ./. 0 0 0 0 7 13 7 14 0 0 ./. 0 5 0 6 5 34 5 34 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423482 6 92226340 CT C 300 PASS - - - - - Del - D 92226340 92226350 1 10 270.045 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 4 2 4 19 26 19 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423527 6 92389356 TG T 600 PASS - - - - - Del - D 92389356 92389364 1 32 539.488 - - 7 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 7 3 10 3 37 23 37 23 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423569 6 92601170 TA T 360 PASS - - - - - Del - D 92601170 92601178 1 12 324.054 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 1 7 3 26 20 26 20 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423671 6 92946329 C CT 509 PASS - - - - - Ins - I 92946329 92946339 1 30 480.662 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 16 0 0 ./. 5 4 6 5 26 25 26 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423691 6 93016379 TA T 300 PASS - - - - - Del - D 93016379 93016388 1 12 270.045 - - 8 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 3 3 4 27 23 27 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423704 6 93047239 T TC 480 PASS - - - - - Ins - I 93047239 93047246 1 25 426.051 - - 6 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 4 4 6 25 28 25 29 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423708 6 93075888 AT A 300 PASS - - - - - Del - D 93075888 93075895 1 12 270.045 - - 6 1 1 - - ./. 0 0 0 0 14 23 14 23 0 0 ./. 3 2 4 4 23 15 23 15 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423814 6 93443531 TA T 420 PASS - - - - - Del - D 93443531 93443540 1 20 378.063 - - 8 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 3 5 3 30 15 30 15 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760423822 6 93467587 CT C 480 PASS - - - - - Del - D 93467587 93467595 1 24 432.072 - - 7 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 3 5 5 5 29 16 29 16 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760424019 6 94166869 CT C 480 PASS - - - - - Del - D 94166869 94166879 1 24 429.061 - - 9 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 3 5 7 8 25 33 25 33 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760424046 6 94251304 GA G 360 PASS - - - - - Del - D 94251304 94251312 1 16 324.054 - - 7 1 1 - - ./. 0 0 0 0 10 21 10 21 0 0 ./. 3 3 6 6 20 25 20 25 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760424085 6 94407966 GA G 360 PASS - - - - - Del - D 94407966 94407975 1 12 323.452 - - 8 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 1 5 1 23 19 23 19 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760424395 6 95546646 TTA T 480 PASS - - - - - Del - D 95546646 95546650 2 24 426.051 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 5 3 6 20 20 20 20 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760424428 6 95887202 TA T 300 PASS - - - - - Del - D 95887202 95887210 1 12 270.045 - - 7 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 2 3 3 3 20 35 20 35 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760424553 6 96368826 C CT 420 PASS - - - - - Ins - I 96368826 96368830 1 20 371.44 - - 3 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 3 5 5 23 18 24 18 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760424726 6 96974385 GA G 360 PASS KIAA0776 CCDS5034.1 r.? - - Del intronic D 96974385 96974395 1 12 324.054 - - 9 1 1 KIAA0776|CCDS5034.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0776|CCDS5034.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 1 6 1 23 18 23 18 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760424778 6 97180015 G GAT 300 PASS - - - - - Ins - I 97180015 97180026 2 10 264.024 - - 5 1 1 - - ./. 0 0 0 0 12 10 12 11 0 0 ./. 4 1 4 3 23 18 23 18 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760424876 6 97522408 CA C 300 PASS KLHL32 CCDS5038.1 r.? - - Del intronic D 97522408 97522416 1 10 270.045 - - 7 1 1 KLHL32|CCDS5038.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KLHL32|CCDS5038.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 1 4 1 5 6 27 6 27 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760424959 6 97781028 AT A 480 PASS - - - - - Del - D 97781028 97781033 1 24 431.47 - - 4 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 3 5 3 26 26 26 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760425002 6 98021675 TA T 300 PASS - - - - - Del - D 98021675 98021684 1 10 268.239 - - 8 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 4 1 4 8 19 8 19 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760425155 6 98578567 TA T 300 PASS - - - - - Del - D 98578567 98578573 1 12 270.045 - - 5 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 2 3 2 24 22 24 22 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760425247 6 98958288 G GT 300 PASS - - - - - Ins - I 98958288 98958298 1 10 267.035 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 6 2 27 18 27 18 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760425377 6 99609729 GA G 420 PASS - - - - - Del - D 99609729 99609737 1 20 378.063 - - 7 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 4 3 5 12 29 12 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760425526 6 99980609 TA T 900 PASS - - - - - Del - D 99980609 99980619 1 70 808.93 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 9 9 9 23 24 23 24 9 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760425914 6 101465758 GT G 600 PASS - - - - - Del - D 101465758 101465768 1 11 540.09 - - 9 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 0 10 0 10 2 20 2 20 0 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760425973 6 101848100 AT A 540 PASS GRIK2 CCDS5049.1 r.? - - Del intronic D 101848100 101848108 1 30 484.275 - - 7 1 1 GRIK2|CCDS5049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIK2|CCDS5049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 4 7 4 22 37 22 37 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760426321 6 103476115 AT A 420 PASS - - - - - Del - D 103476115 103476124 1 20 378.063 - - 8 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 4 4 4 19 19 19 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760426464 6 104231763 CT C 540 PASS - - - - - Del - D 104231763 104231768 1 24 486.081 - - 4 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 7 2 8 23 26 23 26 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760426496 6 104343186 TA T 420 PASS - - - - - Del - D 104343186 104343196 1 8 378.063 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 7 0 9 0 27 4 27 4 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760426504 6 104388857 C CT 720 PASS - - - - - Ins - I 104388857 104388860 1 45 640.281 - - 2 1 1 - - ./. 0 0 0 0 12 4 12 5 0 0 ./. 4 8 5 8 32 23 32 23 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760426576 6 104640141 T TA 300 PASS - - - - - Ins - I 104640141 104640151 1 10 266.432 - - 9 1 1 - - ./. 0 0 0 0 16 24 16 25 0 0 ./. 1 4 1 7 17 31 17 32 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760426741 6 105180658 G GA 418 PASS HACE1 CCDS5050.1 r.? - - Ins intronic I 105180658 105180666 1 21 427.255 - - 7 1 1 HACE1|CCDS5050.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HACE1|CCDS5050.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 2 6 3 8 17 31 19 33 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760426824 6 105401933 TC T 720 PASS LIN28B CCDS34504.1 r.? - - Del upstream D 105401933 105401940 1 48 646.903 - - 6 1 1 LIN28B|CCDS34504.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LIN28B|CCDS34504.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 19 13 19 13 0 0 ./. 5 7 5 9 45 34 45 34 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760426828 6 105413238 CA C 480 PASS LIN28B CCDS34504.1 r.? - - Del intronic D 105413238 105413246 1 24 432.072 - - 7 1 1 LIN28B|CCDS34504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIN28B|CCDS34504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 3 5 4 19 20 19 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760426849 6 105461666 AT A 360 PASS LIN28B CCDS34504.1 r.? - - Del intronic D 105461666 105461673 1 15 324.054 - - 6 1 1 LIN28B|CCDS34504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIN28B|CCDS34504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 12 21 12 0 0 ./. 4 2 4 2 14 24 14 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760426938 6 105748302 AT A 480 PASS PREP CCDS5053.1 r.? - - Del intronic D 105748302 105748310 1 24 432.072 - - 7 1 1 PREP|CCDS5053.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PREP|CCDS5053.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 3 6 4 19 32 19 32 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760427045 6 106146098 GT G 300 PASS - - - - - Del - D 106146098 106146104 1 12 270.045 - - 5 1 1 - - ./. 0 0 0 0 12 3 12 3 0 0 ./. 2 3 3 5 28 26 28 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760427200 6 106683528 TA T 297 PASS ATG5 CCDS5055.1 r.? - - Del intronic D 106683528 106683536 1 10 269.443 - - 7 1 1 ATG5|CCDS5055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATG5|CCDS5055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 6 16 6 0 0 ./. 1 4 2 4 14 27 14 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760427270 6 106876505 CAGAG C 300 PASS - - - - - Del - D 106876505 106876515 4 12 270.045 - - 4 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 2 3 4 3 27 13 27 13 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760427279 6 106886076 TA T 329 PASS - - - - - Del - D 106886076 106886082 1 15 324.054 - - 5 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 2 4 2 26 24 26 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760427356 6 107066755 T TA 600 PASS RTN4IP1 CCDS5056.1 r.? - - Ins intronic I 107066755 107066764 1 35 532.263 - - 8 1 1 RTN4IP1|CCDS5056.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RTN4IP1|CCDS5056.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 6 7 9 34 43 35 43 7 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760427430 6 107299851 C CA 389 PASS - - - - - Ins - I 107299851 107299859 1 14 370.838 - - 7 1 1 - - ./. 0 0 0 0 11 6 14 6 0 0 ./. 1 6 3 7 33 47 33 48 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760427769 6 108211600 CT C 265 PASS SEC63 CCDS5061.1 r.? - - Del intronic D 108211600 108211609 1 12 323.452 - - 8 1 1 SEC63|CCDS5061.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEC63|CCDS5061.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 1 5 2 25 19 25 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760427811 6 108300637 G GA 300 PASS - - - - - Ins - I 108300637 108300644 1 12 267.035 - - 6 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 3 3 20 26 20 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760427878 6 108507349 A ATT 269 PASS NR2E1 CCDS5063.1 r.? - - Ins intronic I 108507349 108507359 2 10 255.595 - - 9 1 1 NR2E1|CCDS5063.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NR2E1|CCDS5063.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 1 7 1 28 25 29 25 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760428014 6 108984772 GC G 268 PASS FOXO3 CCDS5068.1 r.1080delC c.737delC p.R248fs*111 Del frameshift D 108984772 108984779 1 16 323.452 - - 6 1 1 FOXO3|CCDS5068.1|r.1080delC|c.737delC|p.R248fs*111|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 FOXO3|CCDS5068.1|r.1080delC|c.737delC|p.R248fs*111|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 3 4 4 23 28 23 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760428106 6 109302090 C CA 420 PASS - - - - - Ins - I 109302090 109302098 1 18 370.838 - - 7 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 2 5 3 37 35 38 35 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760428109 6 109335836 GT G 360 PASS SESN1 CCDS5070.1 r.? - - Del intronic D 109335836 109335841 1 12 324.054 - - 4 1 - SESN1|CCDS5070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SESN1|CCDS5070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 5 1 5 2 21 20 21 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760428116 6 109363733 CG C 300 PASS SESN1 CCDS5070.1 r.? - - Del intronic D 109363733 109363735 1 6 268.841 - - 1 1 1 SESN1|CCDS5070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SESN1|CCDS5070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 0 9 0 21 0 21 0 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760428210 6 109696657 T TA 420 PASS CD164 CCDS5073.1 r.? - - Ins intronic I 109696657 109696665 1 18 373.848 - - 7 1 1 CD164|CCDS5073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CD164|CCDS5073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 5 3 7 22 27 22 27 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760428354 6 110061287 CT C 300 PASS FIG4 CCDS5078.1 r.? - - Del intronic D 110061287 110061294 1 12 270.045 - - 6 1 1 FIG4|CCDS5078.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FIG4|CCDS5078.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 4 3 24 12 24 12 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760428413 6 110275065 TA T 300 PASS - - - - - Del - D 110275065 110275075 1 10 270.045 - - 9 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 4 1 5 1 12 10 12 10 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760428500 6 110700703 GA G 540 PASS - - - - - Del - D 110700703 110700713 1 10 486.081 - - 9 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 9 0 9 1 31 19 31 19 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760428672 6 111317904 TA T 420 PASS RPF2 CCDS5088.1 r.? - - Del intronic D 111317904 111317910 1 18 378.063 - - 5 1 1 RPF2|CCDS5088.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPF2|CCDS5088.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 5 3 5 30 18 30 18 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760428705 6 111409973 AT A 420 PASS SLC16A10 CCDS5089.1 r.? - - Del intronic D 111409973 111409983 1 8 375.052 - - 9 1 1 SLC16A10|CCDS5089.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC16A10|CCDS5089.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 0 7 1 7 16 17 16 17 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760428706 6 111423357 GT G 360 PASS SLC16A10 CCDS5089.1 r.? - - Del intronic D 111423357 111423365 1 15 324.054 - - 7 1 1 SLC16A10|CCDS5089.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC16A10|CCDS5089.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 4 2 7 11 27 11 27 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760429168 6 113317290 CA C 360 PASS - - - - - Del - D 113317290 113317300 1 15 324.054 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 2 6 4 15 14 15 14 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760429635 6 114963341 CA C 269 PASS - - - - - Del - D 114963341 114963350 1 12 270.045 - - 8 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 2 3 4 5 22 27 22 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760429789 6 115509418 TA T 360 PASS - - - - - Del - D 115509418 115509428 1 15 324.054 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 2 7 2 16 7 16 7 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760429907 6 115979153 AT A 417 PASS - - - - - Del - D 115979153 115979161 1 14 375.052 - - 7 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 1 6 3 21 20 21 20 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760430525 6 118572137 CA C 300 PASS SLC35F1 CCDS34524.1 r.? - - Del intronic D 118572137 118572146 1 12 270.045 - - 8 1 1 SLC35F1|CCDS34524.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC35F1|CCDS34524.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 2 3 2 4 24 21 24 21 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760430827 6 119572282 TA T 300 PASS MAN1A1 CCDS5122.1 r.? - - Del intronic D 119572282 119572291 1 6 270.045 - - 8 1 1 MAN1A1|CCDS5122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAN1A1|CCDS5122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 0 5 0 6 18 29 18 29 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760431369 6 121764399 CA C 360 PASS GJA1 CCDS5123.1 r.? - - Del intronic D 121764399 121764409 1 15 324.054 - - 9 1 1 GJA1|CCDS5123.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GJA1|CCDS5123.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 2 4 2 26 12 26 12 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760431659 6 122879122 AT A 360 PASS SERINC1 CCDS5125.1 r.? - - Del intronic D 122879122 122879131 1 12 324.054 - - 8 1 1 SERINC1|CCDS5125.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SERINC1|CCDS5125.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 1 5 3 20 17 20 17 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760431803 6 123302106 CT C 360 PASS - - - - - Del - D 123302106 123302116 1 7 323.452 - - 9 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 6 0 6 0 22 3 22 3 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760432175 6 124921457 TA T 420 PASS NKAIN2 CCDS34526.1 r.? - - Del intronic D 124921457 124921463 1 8 368.43 - - 5 1 1 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 0 7 0 10 2 29 2 29 0 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760432317 6 125574692 CTA C 300 PASS TPD52L1 CCDS43502.1 r.? - - Del intronic D 125574692 125574697 2 6 270.045 - - 2 1 1 TPD52L1|CCDS43502.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TPD52L1|CCDS43502.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 0 5 0 6 1 16 1 16 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760432327 6 125723016 GCA G 426 PASS - - - - - Del - D 125723016 125723028 2 36 540.09 - - 5 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 5 5 6 13 20 13 20 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760432526 6 126797743 CT C 360 PASS - - - - - Del - D 126797743 126797745 1 7 324.054 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 6 0 8 0 26 5 26 5 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760432626 6 127544984 TAC T 360 PASS - - - - - Del - D 127544984 127544996 2 16 324.054 - - 5 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 3 5 19 24 19 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760432703 6 127783964 GTATT G 360 PASS C6orf174 CCDS34531.1 r.? - - Del intronic D 127783964 127783982 4 15 324.054 - - 4 1 1 C6orf174|CCDS34531.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C6orf174|CCDS34531.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 4 2 4 5 16 15 16 15 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760432776 6 128258074 CA C 360 PASS - - - - - Del - D 128258074 128258081 1 16 324.054 - - 6 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 3 3 3 23 9 23 9 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760432960 6 129453863 AT A 411 PASS LAMA2 CCDS5138.1 r.? - - Del intronic D 129453863 129453872 1 20 378.063 - - 8 1 1 LAMA2|CCDS5138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LAMA2|CCDS5138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 4 4 5 20 15 20 15 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760433107 6 130057851 A AC 360 PASS - - - - - Ins - I 130057851 130057859 1 12 320.441 - - 7 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 1 5 2 18 13 18 13 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760433344 6 131152482 AT A 780 PASS - - - - - Del - D 131152482 131152492 1 54 697.902 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 8 5 10 6 32 21 32 21 10 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760433702 6 132774341 C CA 300 PASS STX7 CCDS5153.1 r.? - - Ins downstream I 132774341 132774350 1 6 266.432 - - 8 1 1 STX7|CCDS5153.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 STX7|CCDS5153.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 8 14 8 0 0 ./. 0 5 1 6 14 31 15 31 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760433776 6 133061458 AT A 629 PASS VNN2 CCDS5161.1 r.? - - Del downstream D 133061458 133061464 1 42 594.099 - - 5 1 1 VNN2|CCDS5161.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 VNN2|CCDS5161.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 6 6 7 34 32 34 32 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760433797 6 133107898 CAG C 480 PASS C6orf192 CCDS5163.1 r.? - - Del intronic D 133107898 133107915 2 24 432.072 - - 8 1 1 C6orf192|CCDS5163.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf192|CCDS5163.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 3 5 3 29 22 29 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760433895 6 133357057 GA G 360 PASS - - - - - Del - D 133357057 133357067 1 12 324.054 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 5 4 7 35 27 35 27 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760434080 6 134099452 AT A 300 PASS - - - - - Del - D 134099452 134099462 1 12 270.045 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 2 3 16 13 16 13 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760434362 6 134943513 GA G 360 PASS - - - - - Del - D 134943513 134943521 1 16 324.054 - - 7 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 3 5 3 19 23 19 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760434444 6 135270800 CA C 540 PASS ALDH8A1 CCDS5171.1 r.? - - Del intronic D 135270800 135270810 1 24 486.081 - - 9 1 1 ALDH8A1|CCDS5171.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALDH8A1|CCDS5171.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 7 2 8 2 23 18 23 18 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760434673 6 136525142 GA G 360 PASS - - - - - Del - D 136525142 136525152 1 12 324.054 - - 9 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 1 5 3 5 24 23 24 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760434974 6 137745360 GT G 360 PASS - - - - - Del - D 137745360 137745366 1 15 324.054 - - 5 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 4 3 7 15 19 15 19 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760434996 6 137827413 T TA 420 PASS - - - - - Ins - I 137827413 137827422 1 20 373.246 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 3 5 3 29 20 29 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760435064 6 138090906 TA T 660 PASS - - - - - Del - D 138090906 138090912 1 40 594.099 - - 5 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 7 4 8 26 31 26 31 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760435210 6 138541775 CTT C 300 PASS KIAA1244 CCDS5189.2 r.? - - Del intronic D 138541775 138541780 2 6 268.239 - - 4 1 1 KIAA1244|CCDS5189.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1244|CCDS5189.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 0 6 0 20 1 20 1 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760435224 6 138590955 GA G 420 PASS KIAA1244 CCDS5189.2 r.? - - Del intronic D 138590955 138590965 1 20 378.063 - - 9 1 1 KIAA1244|CCDS5189.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1244|CCDS5189.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 3 6 4 21 17 21 17 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760435468 6 139297312 CA C 600 PASS REPS1 CCDS47488.1 r.? - - Del intronic D 139297312 139297322 1 32 540.09 - - 9 1 1 REPS1|CCDS47488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 REPS1|CCDS47488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 7 3 7 4 27 20 27 20 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760435615 6 139756232 TG T 300 PASS - - - - - Del - D 139756232 139756241 1 12 270.045 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 4 4 13 21 13 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760435859 6 141040196 C CA 360 PASS - - - - - Ins - I 141040196 141040205 1 15 320.441 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 2 5 4 31 32 31 32 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760435923 6 141254538 CT C 300 PASS - - - - - Del - D 141254538 141254547 1 12 270.045 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 3 3 11 18 11 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760436243 6 142796945 CA C 420 PASS - - - - - Del - D 142796945 142796955 1 18 378.063 - - 9 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 2 7 4 34 19 34 19 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760436371 6 143366114 AT A 300 PASS - - - - - Del - D 143366114 143366123 1 12 270.045 - - 8 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 2 3 3 31 18 31 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760436382 6 143439661 TA T 300 PASS AIG1 CCDS5198.1 r.? - - Del intronic D 143439661 143439671 1 12 269.443 - - 9 1 1 AIG1|CCDS5198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AIG1|CCDS5198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 2 4 27 26 27 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760436549 6 143968934 CA C 300 PASS PHACTR2 CCDS47492.1 r.? - - Del intronic D 143968934 143968942 1 12 270.045 - - 7 1 1 PHACTR2|CCDS47492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHACTR2|CCDS47492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 3 2 3 24 22 24 22 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760436564 6 144015419 TAAAG T 300 PASS PHACTR2 CCDS47493.1 r.? - - Del intronic D 144015419 144015431 4 6 270.045 - - 2 1 1 PHACTR2|CCDS47493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHACTR2|CCDS47493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 4 17 4 0 0 ./. 5 0 9 1 29 23 29 23 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760436661 6 144449688 TC T 420 PASS - - - - - Del - D 144449688 144449696 1 20 378.063 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 4 4 4 19 21 19 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760436696 6 144606770 CT C 300 PASS UTRN ENST00000367529 r.? - - Del upstream D 144606770 144606778 1 12 268.841 - - 7 1 1 UTRN|ENST00000367529|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 UTRN|ENST00000367529|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 4 3 26 26 26 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760436740 6 144796036 CA C 360 PASS UTRN CCDS34547.1 r.? - - Del intronic D 144796036 144796046 1 16 324.054 - - 9 1 1 UTRN|CCDS34547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UTRN|CCDS34547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 3 3 4 4 17 22 17 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760437048 6 146593284 AT A 300 PASS GRM1 CCDS47497.1 r.? - - Del intronic D 146593284 146593289 1 10 270.045 - - 4 1 1 GRM1|CCDS47497.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM1|CCDS47497.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 1 4 3 4 15 25 15 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760437122 6 147010692 TA T 420 PASS C6orf103 CCDS47498.1 r.? - - Del intronic D 147010692 147010702 1 20 378.063 - - 9 1 1 C6orf103|CCDS47498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf103|CCDS47498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 3 4 4 26 16 26 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760437182 6 147219500 TGA T 300 PASS - - - - - Del - D 147219500 147219517 2 10 270.045 - - 8 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 1 4 1 7 14 32 14 32 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760437199 6 147327726 C CA 420 PASS - - - - - Ins - I 147327726 147327733 1 18 373.848 - - 6 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 2 5 2 6 15 27 15 29 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760437279 6 147731211 AT A 360 PASS AL034350.1 ENST00000507806 r.? - - Del intronic D 147731211 147731221 1 15 324.054 - - 9 1 1 AL034350.1|ENST00000507806|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL034350.1|ENST00000507806|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 4 3 4 17 20 17 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760437623 6 148863137 AT A 360 PASS SASH1 CCDS5212.1 r.? - - Del intronic D 148863137 148863147 1 15 323.452 - - 9 1 1 SASH1|CCDS5212.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SASH1|CCDS5212.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 4 3 4 18 15 18 15 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760437740 6 149324718 AT A 360 PASS UST CCDS5213.1 r.? - - Del intronic D 149324718 149324720 1 15 322.85 - - 1 1 1 UST|CCDS5213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UST|CCDS5213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 2 5 2 17 16 17 16 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760437784 6 149498370 G GA 300 PASS - - - - - Ins - I 149498370 149498380 1 12 267.035 - - 9 1 1 - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 2 3 2 3 8 17 8 17 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760438420 6 151409213 T TG 300 PASS MTHFD1L CCDS5228.1 r.? - - Ins intronic I 151409213 151409221 1 12 265.228 - - 7 1 1 MTHFD1L|CCDS5228.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTHFD1L|CCDS5228.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 3 2 20 23 20 23 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760438605 6 151935140 TTGTC T 360 PASS C6orf97 CCDS43515.1 r.? - - Del intronic D 151935140 151935150 4 12 324.054 - - 2 1 1 C6orf97|CCDS43515.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf97|CCDS43515.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 5 1 6 8 16 8 16 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760438685 6 152210207 A AT 540 PASS ESR1 CCDS5234.1 r.? - - Ins intronic I 152210207 152210212 1 28 480.06 - - 4 1 1 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 6 3 7 3 26 26 26 26 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760438992 6 153345972 ACTGT A 298 PASS RGS17 CCDS5244.1 r.? - - Del intronic D 153345972 153345981 4 15 322.248 - - 2 1 1 RGS17|CCDS5244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS17|CCDS5244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 2 4 3 18 16 18 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760439370 6 154408264 CA C 300 PASS OPRM1 CCDS47503.1 r.? - - Del intronic D 154408264 154408273 1 12 270.045 - - 8 1 1 OPRM1|CCDS47503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OPRM1|CCDS47503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 3 2 5 2 26 18 26 18 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760439493 6 154750775 GT G 300 PASS CNKSR3 CCDS5246.1 r.? - - Del intronic D 154750775 154750782 1 12 270.045 - - 6 1 1 CNKSR3|CCDS5246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNKSR3|CCDS5246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 4 4 17 16 17 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760439545 6 154951836 AT A 540 PASS - - - - - Del - D 154951836 154951843 1 30 484.877 - - 6 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 4 7 6 16 26 16 26 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760439891 6 156150930 TA T 420 PASS - - - - - Del - D 156150930 156150939 1 14 378.063 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 1 6 1 24 18 24 18 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760440045 6 156801854 GA G 360 PASS - - - - - Del - D 156801854 156801864 1 7 324.054 - - 9 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 0 6 1 17 4 17 4 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760440093 6 157020647 AT A 420 PASS - - - - - Del - D 157020647 157020654 1 20 378.063 - - 6 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 3 6 3 23 21 23 21 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760440666 6 159024179 CT C 480 PASS TMEM181 CCDS43520.1 r.? - - Del intronic D 159024179 159024187 1 25 432.072 - - 7 1 1 TMEM181|CCDS43520.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM181|CCDS43520.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 4 6 4 20 23 20 23 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760440818 6 159465056 GT G 300 PASS TAGAP CCDS5261.1 r.366delA c.34delA p.T12fs*2 Del frameshift D 159465056 159465062 1 12 270.045 - - 5 1 1 TAGAP|CCDS5261.1|r.366delA|c.34delA|p.T12fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 TAGAP|CCDS5261.1|r.366delA|c.34delA|p.T12fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 5 12 5 12 0 0 ./. 2 3 4 4 17 14 17 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760441067 6 160524764 CT C 360 PASS IGF2R CCDS5273.1 r.? - - Del intronic D 160524764 160524774 1 12 322.248 - - 9 1 1 IGF2R|CCDS5273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGF2R|CCDS5273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 1 6 3 15 22 15 22 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760441277 6 161197219 AT A 420 PASS - - - - - Del - D 161197219 161197225 1 20 377.461 - - 5 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 4 4 4 19 18 19 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760441502 6 162032195 TA T 600 PASS PARK2 CCDS5281.1 r.? - - Del intronic D 162032195 162032202 1 35 540.09 - - 6 1 1 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 4 6 5 8 25 28 25 28 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760442229 6 164484770 ATC A 300 PASS - - - - - Del - D 164484770 164484782 2 6 270.045 - - 5 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 0 5 0 5 0 26 0 26 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760442353 6 164946809 GA G 300 PASS ENSG00000237744 ENST00000425920 r.? - - Del intronic D 164946809 164946818 1 12 270.045 - - 8 1 1 ENSG00000237744|ENST00000425920|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237744|ENST00000425920|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 3 3 5 32 35 32 35 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760442367 6 165003154 AT A 420 PASS ENSG00000237744 ENST00000425920 r.? - - Del intronic D 165003154 165003162 1 20 378.063 - - 7 1 1 ENSG00000237744|ENST00000425920|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237744|ENST00000425920|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 4 5 6 26 31 26 31 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760443751 6 169439266 GA G 300 PASS - - - - - Del - D 169439266 169439275 1 12 270.045 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 2 3 6 19 6 19 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760443848 6 169697307 TA T 420 PASS - - - - - Del - D 169697307 169697315 1 14 377.461 - - 7 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 1 6 4 6 26 21 26 21 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760443891 6 169834660 CT C 420 PASS - - - - - Del - D 169834660 169834670 1 20 378.063 - - 9 1 1 - - ./. 0 0 0 0 14 4 14 4 0 0 ./. 3 4 4 6 22 34 22 34 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760443932 6 169974443 CT C 480 PASS WDR27 CCDS47520.1 r.? - - Del intronic D 169974443 169974452 1 16 428.459 - - 8 1 1 WDR27|CCDS47520.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR27|CCDS47520.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 7 1 7 25 31 25 31 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760443972 6 170074236 CT C 300 PASS WDR27 CCDS47520.1 r.? - - Del intronic D 170074236 170074245 1 10 269.443 - - 8 1 1 WDR27|CCDS47520.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR27|CCDS47520.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 1 4 2 29 17 29 17 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760443987 6 170142715 CT C 300 PASS TCTE3 CCDS5310.1 r.? - - Del intronic D 170142715 170142725 1 12 269.443 - - 9 1 1 TCTE3|CCDS5310.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCTE3|CCDS5310.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 3 2 4 18 32 18 32 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760444154 6 170701597 TTGTC T 480 PASS FAM120B CCDS5314.1 r.? - - Del intronic D 170701597 170701606 4 21 432.072 - - 2 1 1 FAM120B|CCDS5314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM120B|CCDS5314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 2 6 3 6 21 31 21 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760444208 6 170849773 A AG 360 PASS PSMB1 CCDS34577.1 r.? - - Ins intronic I 170849773 170849774 1 16 313.819 - - 0 1 1 PSMB1|CCDS34577.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PSMB1|CCDS34577.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 12 9 0 0 ./. 3 3 3 4 15 34 16 34 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760444238 7 93628 TC T 300 PASS - - - - - Del - D 93628 93635 1 10 270.007 - - 6 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 1 5 2 31 21 31 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760444304 7 331183 C CG 300 PASS - - - - - Ins - I 331183 331190 1 12 265.792 - - 6 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 4 4 31 16 31 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760444327 7 405533 G GA 480 PASS - - - - - Ins - I 405533 405542 1 21 410.938 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 2 7 3 32 31 32 31 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760444379 7 619173 TC T 420 PASS PRKAR1B CCDS34579.1 r.? - - Del intronic D 619173 619179 1 18 377.407 - - 5 1 1 PRKAR1B|CCDS34579.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKAR1B|CCDS34579.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 2 5 2 34 26 34 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760444551 7 971612 AG A 480 PASS ADAP1 CCDS5318.1 r.? - - Del intronic D 971612 971620 1 24 424.786 - - 7 1 1 ADAP1|CCDS5318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAP1|CCDS5318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 5 3 6 7 35 22 35 22 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760444617 7 1190274 AC A 300 PASS ZFAND2A CCDS5323.1 r.? - - Del downstream D 1190274 1190281 1 12 263.986 - - 6 1 1 ZFAND2A|CCDS5323.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZFAND2A|CCDS5323.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 3 2 3 19 32 19 32 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760444744 7 1493811 CG C 360 PASS MICALL2 CCDS5324.1 r.? - - Del intronic D 1493811 1493819 1 15 320.396 - - 7 1 1 MICALL2|CCDS5324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MICALL2|CCDS5324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 2 4 5 4 20 16 20 16 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760445047 7 2462916 TA T 300 PASS CHST12 CCDS5333.1 r.? - - Del intronic D 2462916 2462925 1 12 269.405 - - 8 1 1 CHST12|CCDS5333.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHST12|CCDS5333.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 2 3 6 3 34 11 34 11 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760445108 7 2628993 CA C 360 PASS IQCE CCDS43542.1 r.? - - Del intronic D 2628993 2629003 1 16 324.008 - - 9 1 1 IQCE|CCDS43542.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IQCE|CCDS43542.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 3 3 5 3 21 14 21 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760445127 7 2670534 AT A 420 PASS TTYH3 CCDS34588.1 r.? - - Del upstream D 2670534 2670543 1 14 378.009 - - 8 1 1 TTYH3|CCDS34588.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TTYH3|CCDS34588.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 1 6 1 30 8 30 8 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760445247 7 2955352 AC A 420 PASS CARD11 CCDS5336.2 r.? - - Del intronic D 2955352 2955357 1 20 376.203 - - 4 1 1 CARD11|CCDS5336.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CARD11|CCDS5336.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 4 3 5 3 23 25 23 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760445346 7 3175527 AG A 480 PASS ENSG00000217455 ENST00000402115 r.? - - Del downstream D 3175527 3175533 1 25 432.01 - - 5 1 1 ENSG00000217455|ENST00000402115|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000217455|ENST00000402115|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 4 4 4 22 20 22 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760445457 7 3392398 CT C 360 PASS SDK1 CCDS34590.1 r.? - - Del intronic D 3392398 3392408 1 12 324.008 - - 9 1 1 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 5 2 10 20 36 20 36 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760445507 7 3552326 AT A 300 PASS SDK1 CCDS34590.1 r.? - - Del intronic D 3552326 3552333 1 12 270.007 - - 6 1 1 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 2 6 17 29 17 29 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760445563 7 3767131 CT C 300 PASS SDK1 CCDS34590.1 r.? - - Del intronic D 3767131 3767141 1 12 270.007 - - 9 1 1 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 2 5 5 26 30 26 30 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760445575 7 3817867 GT G 360 PASS SDK1 CCDS34590.1 r.? - - Del intronic D 3817867 3817877 1 12 324.008 - - 9 1 1 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 5 1 5 20 25 20 25 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446028 7 5094568 AT A 360 PASS RBAK CCDS5337.1 r.? - - Del intronic D 5094568 5094577 1 12 324.008 - - 8 1 1 RBAK|CCDS5337.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBAK|CCDS5337.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 1 5 1 17 5 17 5 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446134 7 5266749 AG A 269 PASS WIPI2 CCDS5339.1 r.? - - Del intronic D 5266749 5266755 1 12 267.598 - - 5 1 1 WIPI2|CCDS5339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WIPI2|CCDS5339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 3 2 5 18 23 18 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446272 7 5479201 AC A 540 PASS FBXL18 ENST00000399530 r.? - - Del intronic D 5479201 5479209 1 24 476.379 - - 7 1 1 FBXL18|ENST00000399530|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 FBXL18|ENST00000399530|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 7 2 8 21 19 21 19 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446428 7 5737698 G GA 420 PASS RNF216 CCDS34595.1 r.? - - Ins intronic I 5737698 5737707 1 18 373.795 - - 8 1 1 RNF216|CCDS34595.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF216|CCDS34595.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 5 2 8 21 40 21 40 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446442 7 5767338 TGA T 360 PASS RNF216 CCDS34595.1 r.? - - Del intronic D 5767338 5767351 2 16 324.008 - - 6 1 1 RNF216|CCDS34595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF216|CCDS34595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 3 4 4 22 24 22 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446633 7 6063011 TTC T 360 PASS EIF2AK1 CCDS5345.1 r.3331_3332delGA c.? p.? Del 3'UTR variant D 6063011 6063019 2 16 322.804 - - 3 1 1 EIF2AK1|CCDS5345.1|r.3331_3332delGA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 AIMP2|CCDS5344.1|r.772_773delUC|c.653_654delTC|p.L220fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 3 4 4 34 35 34 35 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446711 7 6199582 AC A 300 PASS USP42 CCDS47535.1 r.? - - Del intronic D 6199582 6199590 1 12 268.802 - - 7 1 1 USP42|CCDS47535.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 USP42|CCDS47535.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 4 2 18 21 18 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446725 7 6261594 CA C 420 PASS CYTH3 CCDS5346.1 r.? - - Del intronic D 6261594 6261603 1 20 374.999 - - 8 1 1 CYTH3|CCDS5346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYTH3|CCDS5346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 4 4 6 15 18 15 18 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446730 7 6277351 CA C 540 PASS CYTH3 CCDS5346.1 r.? - - Del intronic D 6277351 6277361 1 30 486.012 - - 9 1 1 CYTH3|CCDS5346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYTH3|CCDS5346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 4 5 4 6 26 28 26 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446758 7 6345660 AT A 362 PASS - - - - - Del - D 6345660 6345668 1 20 378.009 - - 7 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 3 4 6 8 19 28 19 28 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446854 7 6517786 GC G 300 PASS KDELR2 CCDS5351.1 r.? - - Del intronic D 6517786 6517793 1 12 269.405 - - 6 1 1 KDELR2|CCDS5351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KDELR2|CCDS5351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 3 4 3 33 13 33 13 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760446949 7 6707581 A AC 360 PASS - - - - - Ins - I 6707581 6707590 1 15 320.396 - - 8 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 2 4 2 22 18 22 18 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760447083 7 7068968 CT C 300 PASS - - - - - Del - D 7068968 7068976 1 10 270.007 - - 7 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 1 4 2 4 7 26 7 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760447182 7 7310238 AT A 420 PASS - - - - - Del - D 7310238 7310247 1 20 374.999 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 4 6 5 35 27 35 27 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760447267 7 7557942 C CA 449 PASS COL28A1 CCDS43553.1 r.? - - Ins intronic I 7557942 7557951 1 24 426.592 - - 8 1 1 COL28A1|CCDS43553.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL28A1|CCDS43553.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 5 5 5 22 27 22 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760447324 7 7706926 GA G 300 PASS RPA3 CCDS5356.1 r.? - - Del intronic D 7706926 7706934 1 12 270.007 - - 7 1 1 RPA3|CCDS5356.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RPA3|CCDS5356.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 6 3 23 15 23 15 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760447420 7 7988019 TG T 360 PASS - - - - - Del - D 7988019 7988027 1 12 322.202 - - 7 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 1 8 2 28 26 28 26 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760447603 7 8748776 GT G 269 PASS NXPH1 CCDS47540.1 r.? - - Del intronic D 8748776 8748781 1 12 270.007 - - 4 1 1 NXPH1|CCDS47540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NXPH1|CCDS47540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 4 2 16 12 17 12 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760447884 7 9731560 CA C 360 PASS - - - - - Del - D 9731560 9731566 1 15 324.008 - - 5 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 4 2 5 31 23 31 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760448086 7 10466838 TG T 329 PASS - - - - - Del - D 10466838 10466846 1 15 323.406 - - 7 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 4 3 7 23 35 23 35 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760448152 7 10659132 CT C 420 PASS - - - - - Del - D 10659132 10659142 1 14 376.203 - - 9 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 1 6 2 7 18 22 18 22 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760448280 7 11109342 CT C 300 PASS PHF14 CCDS47542.1 r.? - - Del intronic D 11109342 11109352 1 12 269.405 - - 9 1 1 PHF14|CCDS47542.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHF14|CCDS47542.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 2 3 2 10 7 10 7 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760448485 7 11884767 CT C 300 PASS - - - - - Del - D 11884767 11884774 1 10 270.007 - - 6 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 1 4 2 6 3 26 3 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760448550 7 12347404 CT C 300 PASS - - - - - Del - D 12347404 12347414 1 12 270.007 - - 9 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 2 4 2 25 29 25 29 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760448580 7 12501415 AT A 540 PASS - - - - - Del - D 12501415 12501421 1 28 486.012 - - 5 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 6 5 6 33 33 33 33 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760448709 7 12798378 AT A 300 PASS - - - - - Del - D 12798378 12798386 1 12 270.007 - - 7 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 3 3 20 26 20 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760448737 7 12903196 CCTT C 329 PASS - - - - - Del - D 12903196 12903202 3 15 324.008 - - 1 1 - - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 4 2 5 2 27 23 27 23 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760448765 7 13002682 GA G 300 PASS - - - - - Del - D 13002682 13002692 1 12 270.007 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 2 3 2 17 11 17 11 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760449006 7 13785199 C CTG 600 PASS - - - - - Ins - I 13785199 13785211 2 36 527.972 - - 5 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 5 5 6 5 28 24 28 25 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760449084 7 14094327 AT A 300 PASS - - - - - Del - D 14094327 14094337 1 6 269.405 - - 9 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 0 5 0 6 7 23 7 23 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760449189 7 14472040 CT C 420 PASS DGKB CCDS47547.1 r.? - - Del intronic D 14472040 14472045 1 14 378.009 - - 4 1 1 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 6 1 6 2 16 23 16 23 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760449197 7 14515589 CAT C 300 PASS DGKB CCDS47547.1 r.? - - Del intronic D 14515589 14515593 2 10 270.007 - - 1 1 1 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 1 4 1 4 1 14 1 14 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760449599 7 15948828 CA C 449 PASS - - - - - Del - D 15948828 15948838 1 21 432.01 - - 9 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 2 6 9 10 27 22 27 22 9 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760449652 7 16099139 CAA C 540 PASS - - - - - Del - D 16099139 16099143 2 24 486.012 - - 3 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 7 2 8 4 24 17 24 17 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760449798 7 16690025 CA C 300 PASS ANKMY2 CCDS5361.1 r.? - - Del upstream D 16690025 16690035 1 12 270.007 - - 9 1 1 ANKMY2|CCDS5361.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 BZW2|CCDS5362.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 3 3 6 17 13 17 13 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760449858 7 16865042 TC T 300 PASS AGR2 ENST00000412973 r.? - - Del intronic D 16865042 16865047 1 12 270.007 - - 4 1 1 AGR2|ENST00000412973|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 AGR2|ENST00000412973|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 3 2 3 23 18 23 18 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760449978 7 17246559 AC A 360 PASS - - - - - Del - D 17246559 17246563 1 16 322.804 - - 3 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 3 5 4 22 22 22 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760450021 7 17466233 C CG 360 PASS - - - - - Ins - I 17466233 17466241 1 15 319.191 - - 7 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 2 7 5 30 41 30 42 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760450241 7 18193775 GT G 360 PASS HDAC9 ENST00000433709 r.? - - Del intronic D 18193775 18193785 1 16 324.008 - - 9 1 1 HDAC9|ENST00000433709|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HDAC9|ENST00000433709|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 3 5 5 22 21 22 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760450576 7 19641142 CT C 300 PASS - - - - - Del - D 19641142 19641152 1 10 270.007 - - 9 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 1 4 1 4 23 20 23 20 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760450937 7 20839751 C CA 360 PASS - - - - - Ins - I 20839751 20839754 1 7 320.396 - - 2 1 1 - - ./. 0 0 0 0 11 9 12 9 0 0 ./. 0 6 2 7 19 20 19 20 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760450960 7 20918846 GT G 300 PASS - - - - - Del - D 20918846 20918856 1 12 266.996 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 3 4 20 22 20 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760450983 7 21004444 A AT 300 PASS - - - - - Ins - I 21004444 21004449 1 10 266.996 - - 4 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 1 4 1 16 5 16 5 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760451088 7 21330490 G GA 300 PASS - - - - - Ins - I 21330490 21330499 1 12 266.996 - - 8 1 1 - - ./. 0 0 0 0 15 6 16 6 0 0 ./. 3 2 3 3 20 18 20 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760451205 7 21685701 C CA 300 PASS DNAH11 ENST00000424253 r.? - - Ins intronic I 21685701 21685709 1 6 266.996 - - 7 1 1 DNAH11|ENST00000424253|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAH11|ENST00000424253|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 6 18 6 0 0 ./. 5 0 7 0 32 7 32 7 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760451311 7 21944617 AT A 300 PASS CDCA7L CCDS5374.1 r.? - - Del intronic D 21944617 21944627 1 12 270.007 - - 9 1 1 CDCA7L|CCDS5374.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDCA7L|CCDS5374.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 3 2 4 17 26 17 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760451537 7 22742481 TA T 480 PASS - - - - - Del - D 22742481 22742491 1 24 432.01 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 3 5 5 26 26 26 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760451631 7 23022397 CA C 360 PASS FAM126A CCDS5377.1 r.? - - Del intronic D 23022397 23022405 1 15 324.008 - - 7 1 1 FAM126A|CCDS5377.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM126A|CCDS5377.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 4 3 6 31 33 31 33 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760451747 7 23330346 TC T 360 PASS AC006039.1 ENST00000504702 r.? - - Del intronic D 23330346 23330348 1 12 324.008 - - 1 1 1 AC006039.1|ENST00000504702|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC006039.1|ENST00000504702|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 1 7 1 34 25 34 25 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760451832 7 23567828 G GT 300 PASS TRA2A CCDS5383.1 r.? - - Ins intronic I 23567828 23567838 1 10 264.588 - - 9 1 1 TRA2A|CCDS5383.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRA2A|CCDS5383.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 1 5 1 27 9 28 9 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760451893 7 23717197 CT C 509 PASS C7orf46 CCDS5385.1 r.? - - Del upstream D 23717197 23717206 1 30 475.175 - - 8 1 1 C7orf46|CCDS5385.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 C7orf46|CCDS5385.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 5 4 6 24 28 24 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760452238 7 24546295 TG T 300 PASS - - - - - Del - D 24546295 24546303 1 10 270.007 - - 7 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 1 4 2 4 27 29 27 29 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760452547 7 25580995 TA T 360 PASS - - - - - Del - D 25580995 25581005 1 12 324.008 - - 9 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 1 5 2 6 25 28 25 28 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760452562 7 25631570 GA G 360 PASS - - - - - Del - D 25631570 25631580 1 15 324.008 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 2 6 2 32 15 32 15 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760452657 7 26017020 GA G 480 PASS - - - - - Del - D 26017020 26017030 1 24 431.408 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 5 6 5 24 29 24 29 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760452685 7 26171583 GA G 360 PASS - - - - - Del - D 26171583 26171593 1 15 324.008 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 4 3 4 36 31 36 31 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760452750 7 26347242 A AT 300 PASS SNX10 CCDS5399.1 r.? - - Ins intronic I 26347242 26347252 1 12 265.792 - - 9 1 1 SNX10|CCDS5399.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SNX10|CCDS5399.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 2 4 4 25 38 26 38 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760452754 7 26352403 CA C 480 PASS SNX10 CCDS5399.1 r.? - - Del intronic D 26352403 26352412 1 24 432.01 - - 8 1 1 SNX10|CCDS5399.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SNX10|CCDS5399.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 3 7 5 30 29 30 29 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760452997 7 27142247 GT G 360 PASS HOXA2 CCDS5403.1 r.58delA c.? p.? Del 5'UTR variant D 27142247 27142256 1 16 324.008 - - 8 1 1 HOXA2|CCDS5403.1|r.58delA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 HOXA2|CCDS5403.1|r.58delA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 3 6 4 30 31 30 31 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760453060 7 27318673 C CA 389 PASS - - - - - Ins - I 27318673 27318681 1 20 373.795 - - 7 1 1 - - ./. 0 0 0 0 4 11 5 11 0 0 ./. 3 4 4 7 25 37 25 37 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760453100 7 27439160 T TA 420 PASS - - - - - Ins - I 27439160 27439167 1 18 373.795 - - 6 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 5 4 6 34 25 34 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760453342 7 28206639 C CA 540 PASS JAZF1 CCDS5416.1 r.? - - Ins intronic I 28206639 28206648 1 24 478.185 - - 8 1 1 JAZF1|CCDS5416.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 JAZF1|CCDS5416.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 2 7 4 29 22 29 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760453354 7 28247396 TA T 360 PASS - - - - - Del - D 28247396 28247402 1 7 324.008 - - 5 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 6 0 10 0 37 14 37 14 10 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760453432 7 28500660 CA C 300 PASS CREB5 CCDS5417.1 r.? - - Del intronic D 28500660 28500670 1 12 268.802 - - 9 1 1 CREB5|CCDS5417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CREB5|CCDS5417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 5 6 27 24 27 24 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760453494 7 28665061 CA C 360 PASS CREB5 CCDS5417.1 r.? - - Del intronic D 28665061 28665070 1 12 322.804 - - 8 1 1 CREB5|CCDS5417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CREB5|CCDS5417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 1 6 1 25 23 25 23 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760453532 7 28753948 CT C 420 PASS CREB5 CCDS5417.1 r.? - - Del intronic D 28753948 28753958 1 20 378.009 - - 9 1 1 CREB5|CCDS5417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CREB5|CCDS5417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 4 3 4 34 16 34 16 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760454021 7 30086844 TGAA T 300 PASS PLEKHA8 CCDS5424.1 r.? - - Del intronic D 30086844 30086852 3 10 268.2 - - 2 1 1 PLEKHA8|CCDS5424.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLEKHA8|CCDS5424.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 4 3 5 13 25 13 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760454329 7 31382721 CA C 300 PASS NEUROD6 CCDS5434.1 r.? - - Del upstream D 31382721 31382730 1 12 270.007 - - 8 1 1 NEUROD6|CCDS5434.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 NEUROD6|CCDS5434.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 3 2 4 28 25 28 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760454345 7 31451956 TG T 300 PASS - - - - - Del - D 31451956 31451965 1 12 270.007 - - 8 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 6 3 26 16 26 16 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760454392 7 31589732 CT C 480 PASS CCDC129 CCDS5435.2 r.? - - Del intronic D 31589732 31589742 1 21 431.408 - - 9 1 1 CCDC129|CCDS5435.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCDC129|CCDS5435.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 2 6 2 5 19 33 19 33 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760454600 7 32260263 T TA 480 PASS PDE1C ENST00000396193 r.? - - Ins intronic I 32260263 32260271 1 24 419.367 - - 7 1 1 PDE1C|ENST00000396193|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE1C|ENST00000396193|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 5 4 7 16 25 16 26 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760454746 7 32582582 CT C 420 PASS AVL9 CCDS34613.1 r.? - - Del intronic D 32582582 32582590 1 20 378.009 - - 7 1 1 AVL9|CCDS34613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AVL9|CCDS34613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 3 5 8 21 31 21 31 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455011 7 33096432 G GT 300 PASS NT5C3 CCDS34617.1 r.? - - Ins intronic I 33096432 33096441 1 10 264.588 - - 8 1 1 NT5C3|CCDS34617.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NT5C3|CCDS34617.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 3 11 3 0 0 ./. 4 1 6 1 23 10 23 10 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455066 7 33238291 CT C 360 PASS BBS9 CCDS43566.1 r.? - - Del intronic D 33238291 33238299 1 15 324.008 - - 7 1 1 BBS9|CCDS43566.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BBS9|CCDS43566.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 4 2 14 27 14 27 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455353 7 34279223 CA C 300 PASS - - - - - Del - D 34279223 34279231 1 6 268.802 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 0 6 0 26 26 26 26 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455419 7 34707586 AC A 480 PASS NPSR1 CCDS5444.1 r.? - - Del intronic D 34707586 34707593 1 24 432.01 - - 6 1 1 NPSR1|CCDS5444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPSR1|CCDS5444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 5 4 5 19 33 19 33 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455573 7 35352491 CA C 329 PASS - - - - - Del - D 35352491 35352501 1 15 319.191 - - 9 1 - - - ./. 0 0 0 0 4 14 4 14 0 0 ./. 4 2 4 5 34 21 34 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455607 7 35427599 CT C 360 PASS - - - - - Del - D 35427599 35427608 1 15 316.181 - - 8 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 2 6 6 35 34 35 34 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455686 7 35708745 CA C 300 PASS HERPUD2 CCDS5446.1 r.? - - Del intronic D 35708745 35708755 1 12 269.405 - - 9 1 1 HERPUD2|CCDS5446.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HERPUD2|CCDS5446.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 6 2 16 16 16 16 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455873 7 36280725 TC T 300 PASS EEPD1 CCDS34619.1 r.? - - Del intronic D 36280725 36280732 1 10 270.007 - - 6 1 1 EEPD1|CCDS34619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EEPD1|CCDS34619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 1 4 3 5 20 25 20 25 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455915 7 36395353 TACAA T 298 PASS KIAA0895 CCDS47573.1 r.? - - Del intronic D 36395353 36395361 4 16 324.008 - - 1 1 1 KIAA0895|CCDS47573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0895|ENST00000415803|r.2313_2316delUUGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 5 14 5 14 0 0 ./. 3 3 4 3 27 16 27 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455920 7 36411362 G GT 420 PASS KIAA0895 CCDS47573.1 r.? - - Ins upstream I 36411362 36411371 1 20 373.795 - - 8 1 1 KIAA0895|CCDS47573.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 KIAA0895|CCDS43570.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 23 6 23 0 0 ./. 3 4 4 4 23 23 23 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455946 7 36473446 CT C 300 PASS ANLN CCDS5447.1 r.? - - Del intronic D 36473446 36473455 1 10 270.007 - - 8 1 1 ANLN|CCDS5447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANLN|CCDS5447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 1 4 1 5 16 25 16 25 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760455973 7 36544739 CT C 480 PASS - - - - - Del - D 36544739 36544748 1 25 431.408 - - 8 1 1 - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 4 4 5 4 27 20 27 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760456030 7 36634430 GA G 329 PASS AOAH CCDS5448.1 r.? - - Del intronic D 36634430 36634438 1 15 324.008 - - 7 1 1 AOAH|CCDS5448.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AOAH|CCDS5448.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 4 2 6 5 35 31 35 31 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760456273 7 37370790 TG T 300 PASS ELMO1 CCDS5449.1 r.? - - Del intronic D 37370790 37370793 1 12 269.405 - - 2 1 1 ELMO1|CCDS5449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELMO1|CCDS5449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 2 3 4 5 14 27 14 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760456442 7 37952879 AT A 480 PASS SFRP4 CCDS5453.1 r.? - - Del intronic D 37952879 37952888 1 25 432.01 - - 8 1 1 SFRP4|CCDS5453.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFRP4|CCDS5453.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 4 5 8 20 24 20 24 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760456664 7 38699984 AT A 389 PASS - - - - - Del - D 38699984 38699993 1 20 371.989 - - 8 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 4 4 5 21 37 21 37 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760456718 7 38936207 ATTC A 267 PASS VPS41 CCDS5457.1 r.? - - Del intronic D 38936207 38936217 3 12 324.008 - - 3 1 1 VPS41|CCDS5457.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS41|CCDS5457.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 1 5 1 5 23 29 23 29 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760456773 7 39077826 AT A 420 PASS POU6F2 CCDS34620.2 r.? - - Del intronic D 39077826 39077835 1 18 378.009 - - 8 1 1 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 5 2 9 16 37 16 37 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760456852 7 39339424 GAA G 420 PASS POU6F2 CCDS34620.2 r.? - - Del intronic D 39339424 39339430 2 20 376.203 - - 5 1 1 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 19 7 19 0 0 ./. 3 4 4 4 21 15 21 15 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760456886 7 39435315 CT C 420 PASS POU6F2 CCDS34620.2 r.? - - Del intronic D 39435315 39435322 1 20 378.009 - - 6 1 1 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 4 3 4 24 23 24 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760456944 7 39605461 GA G 360 PASS C7orf36 CCDS5459.1 r.? - - Del upstream D 39605461 39605468 1 16 324.008 - - 6 1 1 C7orf36|CCDS5459.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C7orf36|CCDS5459.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 5 9 5 0 0 ./. 3 3 3 4 24 27 24 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760457002 7 39750862 CT C 360 PASS RALA CCDS5460.1 r.? - - Del downstream D 39750862 39750872 1 15 319.793 - - 9 1 1 RALA|CCDS5460.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RALA|CCDS5460.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 4 3 6 22 28 22 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760457043 7 39844263 GA G 276 PASS - - - - - Del - D 39844263 39844273 1 12 270.007 - - 9 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 2 4 3 19 34 19 34 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760457291 7 40484785 TA T 300 PASS C7orf10 ENST00000309930 r.? - - Del intronic D 40484785 40484793 1 12 270.007 - - 7 1 1 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 2 3 2 36 16 36 16 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760457361 7 40866638 AT A 420 PASS C7orf10 ENST00000309930 r.? - - Del intronic D 40866638 40866646 1 20 378.009 - - 7 1 1 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 4 3 5 3 23 23 23 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760457424 7 41043373 CCTT C 269 PASS - - - - - Del - D 41043373 41043380 3 12 270.007 - - 2 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 2 5 3 23 24 23 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760457782 7 42198742 CA C 480 PASS GLI3 CCDS5465.1 r.? - - Del intronic D 42198742 42198751 1 21 430.204 - - 8 1 1 GLI3|CCDS5465.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLI3|CCDS5465.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 7 20 7 0 0 ./. 6 2 7 3 20 42 20 42 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760457837 7 42337255 AC A 420 PASS - - - - - Del - D 42337255 42337260 1 20 378.009 - - 4 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 3 4 4 16 20 16 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760457890 7 42678892 CT C 360 PASS - - - - - Del - D 42678892 42678901 1 15 324.008 - - 8 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 2 4 2 5 15 15 15 15 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760457907 7 42738551 AT A 360 PASS - - - - - Del - D 42738551 42738560 1 12 322.804 - - 8 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 5 1 5 3 21 18 21 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760458000 7 42979357 GA G 360 PASS MRPL32 CCDS5468.1 r.? - - Del downstream D 42979357 42979365 1 16 324.008 - - 7 1 1 MRPL32|CCDS5468.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MRPL32|CCDS5468.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 3 4 3 22 24 22 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760458301 7 43757292 CG C 300 PASS C7orf44 CCDS5471.1 r.? - - Del intronic D 43757292 43757301 1 12 268.2 - - 8 1 1 C7orf44|CCDS5471.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C7orf44|CCDS5471.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 2 3 24 31 24 31 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760458336 7 43820779 CT C 329 PASS BLVRA CCDS5472.1 r.? - - Del intronic D 43820779 43820789 1 16 288.486 - - 9 1 1 BLVRA|CCDS5472.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BLVRA|CCDS5472.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 3 3 3 23 24 23 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760458396 7 43974897 TG T 389 PASS UBE2D4 CCDS5474.1 r.? - - Del intronic D 43974897 43974903 1 14 378.009 - - 5 1 1 UBE2D4|CCDS5474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBE2D4|CCDS5474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 1 6 2 22 16 22 16 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760458506 7 44275179 AAG A 420 PASS CAMK2B CCDS5483.1 r.? - - Del intronic D 44275179 44275193 2 18 378.009 - - 6 1 1 CAMK2B|CCDS5483.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMK2B|CCDS5483.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 2 5 2 25 10 25 10 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760458569 7 44575680 G GC 480 PASS NPC1L1 CCDS5491.1 r.? - - Ins intronic I 44575680 44575686 1 16 426.592 - - 5 1 1 NPC1L1|CCDS5491.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NPC1L1|CCDS5491.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 7 1 9 3 27 28 27 28 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760458928 7 45497484 GGA G 300 PASS - - - - - Del - D 45497484 45497494 2 12 270.007 - - 4 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 3 2 3 28 23 28 23 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760459260 7 46867594 CAG C 660 PASS - - - - - Del - D 46867594 46867599 2 36 593.412 - - 2 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 8 4 8 23 28 23 28 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760459301 7 47035651 TA T 480 PASS - - - - - Del - D 47035651 47035661 1 9 432.01 - - 9 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 8 0 10 1 25 4 25 4 10 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760459463 7 47700433 AC A 360 PASS C7orf65 CCDS43580.1 r.2099delC c.? p.? Del 3'UTR variant D 47700433 47700438 1 16 324.008 - - 4 1 1 C7orf65|CCDS43580.1|r.2099delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 C7orf65|CCDS43580.1|r.2099delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 3 4 3 26 26 26 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760459626 7 48192010 A AT 300 PASS - - - - - Ins - I 48192010 48192016 1 10 266.996 - - 5 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 4 1 5 2 17 17 17 17 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760459916 7 49381194 AT A 300 PASS - - - - - Del - D 49381194 49381203 1 10 270.007 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 1 6 3 29 11 29 11 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760459958 7 49546543 TA T 269 PASS - - - - - Del - D 49546543 49546553 1 10 270.007 - - 9 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 4 1 7 1 34 13 34 13 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760460067 7 49962062 CCTT C 418 PASS - - - - - Del - D 49962062 49962068 3 21 432.01 - - 1 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 6 2 7 2 27 16 27 16 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760460093 7 50056519 ATTT A 300 PASS ZPBP CCDS5509.1 r.? - - Del intronic D 50056519 50056526 3 6 270.007 - - 6 1 1 ZPBP|CCDS5509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZPBP|CCDS5509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 0 5 0 5 6 18 6 18 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760460120 7 50156340 TA T 300 PASS C7orf72 CCDS47585.1 r.? - - Del intronic D 50156340 50156348 1 12 270.007 - - 7 1 1 C7orf72|CCDS47585.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7orf72|CCDS47585.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 2 4 25 20 25 20 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760460170 7 50432790 TA T 300 PASS IKZF1 ENST00000331340 r.? - - Del intronic D 50432790 50432796 1 12 270.007 - - 5 1 1 IKZF1|ENST00000331340|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IKZF1|ENST00000331340|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 2 6 3 24 28 24 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760460219 7 50647380 GT G 480 PASS - - - - - Del - D 50647380 50647387 1 24 428.398 - - 6 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 5 4 5 25 25 25 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760460231 7 50698646 AT A 480 PASS GRB10 CCDS43583.1 r.? - - Del intronic D 50698646 50698655 1 21 432.01 - - 8 1 1 GRB10|CCDS43583.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRB10|CCDS43583.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 6 3 7 19 27 19 27 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760460323 7 50979736 AC A 360 PASS - - - - - Del - D 50979736 50979738 1 15 320.998 - - 1 1 - - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 4 2 4 3 29 16 29 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760460352 7 51038361 AT A 300 PASS - - - - - Del - D 51038361 51038371 1 12 270.007 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 3 3 10 12 10 12 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760460414 7 51240496 CT C 540 PASS COBL CCDS34637.1 r.? - - Del intronic D 51240496 51240506 1 30 486.012 - - 9 1 - COBL|CCDS34637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COBL|CCDS34637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 4 5 5 6 29 29 29 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760460446 7 51314496 CT C 480 PASS COBL CCDS34637.1 r.? - - Del intronic D 51314496 51314504 1 24 432.01 - - 7 1 1 COBL|CCDS34637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COBL|CCDS34637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 3 5 3 6 25 29 25 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760460943 7 52663395 GGA G 300 PASS - - - - - Del - D 52663395 52663408 2 10 270.007 - - 6 1 1 - - ./. 0 0 0 0 24 11 24 11 0 0 ./. 1 4 0 6 24 34 24 34 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760461002 7 52851199 CT C 420 PASS - - - - - Del - D 52851199 52851209 1 8 378.009 - - 9 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 0 7 0 10 19 29 19 29 0 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760461125 7 53164969 CT C 360 PASS - - - - - Del - D 53164969 53164979 1 12 324.008 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 5 4 6 18 21 18 21 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760461491 7 54604896 C CT 360 PASS - - - - - Ins - I 54604896 54604906 1 16 319.191 - - 9 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 3 3 4 3 19 31 20 31 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760461495 7 54621156 CT C 480 PASS VSTM2A CCDS5512.2 r.? - - Del intronic D 54621156 54621164 1 24 432.01 - - 7 1 1 VSTM2A|CCDS5512.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VSTM2A|CCDS5512.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 5 4 7 18 29 18 29 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760461537 7 54729265 GA G 540 PASS - - - - - Del - D 54729265 54729271 1 30 486.012 - - 5 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 5 4 5 4 29 23 29 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760461639 7 55064507 G GC 300 PASS - - - - - Ins - I 55064507 55064515 1 10 266.996 - - 7 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 4 1 4 2 39 9 39 9 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760461688 7 55284519 T TA 420 PASS EGFR ENST00000442591 r.? - - Ins intronic I 55284519 55284527 1 18 373.795 - - 7 1 1 EGFR|ENST00000442591|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 EGFR|ENST00000442591|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 22 14 22 0 0 ./. 2 5 2 5 15 19 15 19 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760461695 7 55307458 GT G 300 PASS EGFR ENST00000442591 r.? - - Del intronic D 55307458 55307465 1 12 265.19 - - 6 1 1 EGFR|ENST00000442591|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 EGFR|ENST00000442591|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 16 3 16 0 0 ./. 2 3 4 5 28 28 28 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760462290 7 56533579 AT A 300 PASS - - - - - Del - D 56533579 56533589 1 10 270.007 - - 9 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 1 4 1 5 4 29 4 29 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760462383 7 56703070 CT C 420 PASS - - - - - Del - D 56703070 56703080 1 18 378.009 - - 9 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 2 5 2 5 24 35 24 35 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760462569 7 57157423 G GT 285 PASS - - - - - Ins - I 57157423 57157432 1 18 373.193 - - 8 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 2 5 2 32 21 32 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760462570 7 57157423 GT G 340 PASS - - - - - Del - D 57157423 57157432 1 14 372.591 - - 8 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 1 6 3 28 18 28 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760462681 7 57440924 G GT 360 PASS - - - - - Ins - I 57440924 57440931 1 15 320.396 - - 6 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 4 3 4 26 22 26 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760462896 7 57653796 AT A 417 PASS - - - - - Del - D 57653796 57653806 1 20 376.805 - - 9 1 1 - - ./. 0 0 0 0 27 18 27 18 0 0 ./. 4 3 5 4 45 61 45 61 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760463073 7 57762265 TA T 480 PASS - - - - - Del - D 57762265 57762271 1 9 432.01 - - 5 1 1 - - ./. 0 0 0 0 11 29 11 29 0 0 ./. 0 8 0 8 1 25 1 25 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760463212 7 57943304 CT C 300 PASS - - - - - Del - D 57943304 57943314 1 12 270.007 - - 9 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 3 5 3 34 34 34 34 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760463793 7 62101185 CA C 259 PASS - - - - - Del - D 62101185 62101191 1 15 324.008 - - 5 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 3 5 29 34 29 34 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760463829 7 62375828 CTT C 569 PASS - - - - - Del - D 62375828 62375831 2 36 540.013 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 5 6 5 24 41 24 41 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760463868 7 62523473 A AG 381 PASS - - - - - Ins - I 62523473 62523476 1 15 747.589 - - 2 1 1 - - ./. 0 0 0 0 5 11 6 11 0 0 ./. 14 0 16 0 49 28 49 28 16 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760464055 7 63136470 CT C 452 PASS - - - - - Del - D 63136470 63136480 1 35 540.013 - - 9 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 4 6 6 8 48 46 48 46 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760465176 7 65357155 TTTC T 480 PASS VKORC1L1 CCDS5529.1 r.? - - Del intronic D 65357155 65357161 3 25 432.01 - - 1 1 1 VKORC1L1|CCDS5529.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VKORC1L1|CCDS5529.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 4 4 4 4 23 18 23 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760465256 7 65509513 TG T 300 PASS AC008267.2 ENST00000418858 r.? - - Del intronic D 65509513 65509522 1 12 266.394 - - 8 1 1 AC008267.2|ENST00000418858|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC008267.2|ENST00000418858|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 7 3 7 0 0 ./. 2 3 4 3 19 29 19 29 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760465448 7 65938289 TA T 300 PASS AC008267.2 ENST00000418858 r.? - - Del intronic D 65938289 65938294 1 10 270.007 - - 4 1 1 AC008267.2|ENST00000418858|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC008267.2|ENST00000418858|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 4 1 4 1 27 27 27 27 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760465712 7 66477334 CA C 478 PASS TYW1 CCDS5538.1 r.? - - Del intronic D 66477334 66477344 1 24 457.113 - - 9 1 1 TYW1|CCDS5538.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TYW1|CCDS5538.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 7 2 7 2 26 20 26 20 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760465784 7 66579229 AT A 360 PASS TYW1 CCDS5538.1 r.? - - Del intronic D 66579229 66579238 1 12 324.008 - - 8 1 1 TYW1|CCDS5538.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TYW1|CCDS5538.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 1 5 2 15 26 15 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760466039 7 66885031 G GA 420 PASS - - - - - Ins - I 66885031 66885040 1 20 373.795 - - 8 1 1 - - ./. 0 0 0 0 20 21 20 21 0 0 ./. 3 4 3 4 17 15 18 15 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760466364 7 67489051 CA C 540 PASS - - - - - Del - D 67489051 67489061 1 30 483.002 - - 9 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 4 7 6 25 26 25 26 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760466424 7 67614185 A AT 420 PASS - - - - - Ins - I 67614185 67614195 1 20 373.795 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 3 4 4 30 24 30 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760466516 7 67812212 CT C 300 PASS - - - - - Del - D 67812212 67812222 1 10 270.007 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 4 3 7 19 37 19 37 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760466549 7 67895382 GA G 540 PASS - - - - - Del - D 67895382 67895392 1 30 486.012 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 5 5 7 16 39 16 39 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760466564 7 67937110 TTC T 360 PASS - - - - - Del - D 67937110 67937123 2 15 324.008 - - 6 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 3 4 29 21 29 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760466612 7 68062188 AT A 449 PASS - - - - - Del - D 68062188 68062198 1 25 432.01 - - 9 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 4 6 6 18 21 18 21 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760466658 7 68206483 CA C 360 PASS - - - - - Del - D 68206483 68206492 1 15 323.406 - - 8 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 4 4 6 21 35 21 35 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760466674 7 68245579 GA G 420 PASS - - - - - Del - D 68245579 68245586 1 20 378.009 - - 6 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 3 4 5 27 39 27 39 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760466877 7 68607353 TC T 420 PASS - - - - - Del - D 68607353 68607358 1 20 378.009 - - 4 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 3 7 3 32 30 32 30 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760466997 7 68853371 CCT C 269 PASS - - - - - Del - D 68853371 68853388 2 10 265.792 - - 8 1 - - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 1 6 0 31 24 31 25 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467154 7 69181230 C CTG 360 PASS AUTS2 CCDS5539.1 r.? - - Ins intronic I 69181230 69181248 2 15 315.579 - - 8 1 - AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 4 2 4 4 23 37 24 38 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467155 7 69181291 A AT 360 PASS AUTS2 CCDS5539.1 r.? - - Ins intronic I 69181291 69181301 1 15 319.793 - - 9 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 4 2 5 22 37 22 37 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467188 7 69254251 TA T 660 PASS AUTS2 CCDS5539.1 r.? - - Del intronic D 69254251 69254260 1 36 594.014 - - 8 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 8 4 8 0 0 ./. 8 3 8 4 24 21 24 21 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467197 7 69292435 GA G 300 PASS AUTS2 CCDS5539.1 r.? - - Del intronic D 69292435 69292445 1 10 270.007 - - 9 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 1 6 2 27 16 27 16 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467296 7 69679662 CT C 360 PASS AUTS2 CCDS5539.1 r.? - - Del intronic D 69679662 69679670 1 12 324.008 - - 7 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 1 5 1 21 15 21 15 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467393 7 70025771 A AT 360 PASS AUTS2 CCDS5539.1 r.? - - Ins intronic I 70025771 70025776 1 15 320.396 - - 4 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 2 5 3 32 18 32 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467448 7 70162119 AT A 420 PASS AUTS2 CCDS5539.1 r.? - - Del intronic D 70162119 70162129 1 20 378.009 - - 9 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 3 5 5 20 28 20 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467476 7 70211085 CA C 420 PASS AUTS2 CCDS5539.1 r.? - - Del intronic D 70211085 70211092 1 18 377.407 - - 6 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 12 5 12 0 0 ./. 5 2 6 2 22 11 22 11 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467590 7 70407641 CA C 329 PASS - - - - - Del - D 70407641 70407646 1 15 323.406 - - 4 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 4 5 4 28 18 28 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467592 7 70413379 AT A 300 PASS - - - - - Del - D 70413379 70413389 1 12 270.007 - - 9 1 1 - - ./. 0 0 0 0 5 22 5 22 0 0 ./. 2 3 2 4 11 28 11 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467602 7 70427876 ATTAT A 300 PASS - - - - - Del - D 70427876 70427887 4 12 270.007 - - 2 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 3 3 3 9 14 9 14 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467715 7 70652723 GA G 300 PASS WBSCR17 CCDS5540.1 r.? - - Del intronic D 70652723 70652731 1 12 261.578 - - 7 1 1 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 2 3 3 3 18 24 18 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760467942 7 71176489 ACT A 358 PASS WBSCR17 CCDS5540.1 r.? - - Del intronic D 71176489 71176503 2 18 376.203 - - 6 1 1 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 5 2 4 2 31 27 31 27 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760468021 7 71319321 TA T 300 PASS CALN1 CCDS47603.1 r.? - - Del intronic D 71319321 71319329 1 12 270.007 - - 7 1 1 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 2 4 5 28 18 28 18 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760468205 7 71765032 AT A 374 PASS CALN1 CCDS47603.1 r.? - - Del intronic D 71765032 71765039 1 20 378.009 - - 6 1 1 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 4 4 5 30 25 30 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760468375 7 72150236 TA T 300 PASS - - - - - Del - D 72150236 72150246 1 12 270.007 - - 9 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 3 4 3 25 16 25 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760468618 7 72961790 CA C 540 PASS BCL7B CCDS5550.1 r.? - - Del intronic D 72961790 72961800 1 28 486.012 - - 9 1 1 BCL7B|CCDS5550.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCL7B|CCDS5550.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 6 3 8 12 37 12 37 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760468626 7 72989787 AT A 397 PASS TBL2 CCDS5551.1 r.? - - Del intronic D 72989787 72989797 1 20 377.407 - - 9 1 1 TBL2|CCDS5551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBL2|CCDS5551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 3 5 4 34 18 34 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760468803 7 73340330 GT G 660 PASS - - - - - Del - D 73340330 73340340 1 40 592.208 - - 9 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 7 5 9 19 32 19 32 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760468933 7 73630112 TG T 269 PASS LAT2 CCDS5566.2 r.? - - Del intronic D 73630112 73630117 1 12 265.19 - - 4 1 1 LAT2|CCDS5566.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LAT2|CCDS5566.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 3 3 4 20 20 20 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760468974 7 73722155 GT G 420 PASS CLIP2 CCDS5569.1 r.? - - Del intronic D 73722155 73722157 1 20 378.009 - - 1 1 1 CLIP2|CCDS5569.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CLIP2|CCDS5569.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 3 5 3 28 26 28 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760469298 7 75154170 TC T 367 PASS PMS2L3 ENST00000434405 r.? - - Del intronic D 75154170 75154176 1 20 376.805 - - 5 1 1 PMS2L3|ENST00000434405|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PMS2L3|ENST00000434405|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 3 7 4 33 34 33 34 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760469322 7 75182912 CT C 480 PASS HIP1 CCDS34669.1 r.? - - Del intronic D 75182912 75182922 1 24 432.01 - - 9 1 1 HIP1|CCDS34669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HIP1|CCDS34669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 5 5 5 0 0 ./. 5 3 8 5 38 19 38 19 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760469431 7 75402060 CA C 300 PASS CCL26 CCDS5578.1 r.? - - Del intronic D 75402060 75402068 1 10 269.405 - - 7 1 1 CCL26|CCDS5578.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCL26|CCDS5578.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 4 3 5 17 31 17 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760469467 7 75446993 G GT 420 PASS CCL24 CCDS34670.1 r.? - - Ins intronic I 75446993 75447001 1 20 373.795 - - 7 1 1 CCL24|CCDS34670.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CCL24|CCDS34670.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 3 7 4 35 19 35 19 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760469482 7 75476658 CT C 360 PASS - - - - - Del - D 75476658 75476667 1 12 322.804 - - 8 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 5 2 5 18 35 18 35 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760469512 7 75511968 CT C 300 PASS RHBDD2 CCDS43603.1 r.? - - Del intronic D 75511968 75511978 1 12 268.2 - - 9 1 1 RHBDD2|CCDS43603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RHBDD2|CCDS43603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 2 5 2 22 20 22 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760469604 7 75725387 GA G 300 PASS AC006330.1 ENST00000514862 r.? - - Del intronic D 75725387 75725396 1 12 270.007 - - 8 1 1 AC006330.1|ENST00000514862|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC006330.1|ENST00000514862|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 6 3 39 26 39 26 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760469636 7 75909272 TTC T 360 PASS SRRM3 ENST00000388802 r.? - - Del intronic D 75909272 75909290 2 16 324.008 - - 8 1 - SRRM3|ENST00000388802|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRRM3|ENST00000388802|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 3 3 4 14 28 14 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760469644 7 75926110 C CA 360 PASS - - - - - Ins - I 75926110 75926119 1 15 320.396 - - 8 1 1 - - ./. 0 0 0 0 14 10 15 10 0 0 ./. 4 2 6 2 42 15 43 15 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760470067 7 77078689 AT A 269 PASS - - - - - Del - D 77078689 77078697 1 12 268.2 - - 7 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 3 3 21 21 21 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760470357 7 77704031 CT C 360 PASS MAGI2 CCDS5594.1 r.? - - Del intronic D 77704031 77704039 1 15 322.202 - - 7 1 1 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 2 4 2 20 14 20 14 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760470405 7 77870116 CA C 360 PASS MAGI2 CCDS5594.1 r.? - - Del intronic D 77870116 77870122 1 15 324.008 - - 5 1 1 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 2 4 2 17 24 17 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760470586 7 78278952 CT C 360 PASS MAGI2 CCDS5594.1 r.? - - Del intronic D 78278952 78278962 1 12 324.008 - - 9 1 1 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 10 20 10 0 0 ./. 5 1 7 1 29 13 29 13 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760470765 7 78793769 CT C 300 PASS MAGI2 CCDS5594.1 r.? - - Del intronic D 78793769 78793778 1 10 269.405 - - 8 1 1 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 7 18 7 0 0 ./. 4 1 5 4 27 29 27 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760470903 7 79230316 CT C 360 PASS - - - - - Del - D 79230316 79230325 1 15 323.406 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 5 4 21 29 21 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760470962 7 79402664 TG T 420 PASS - - - - - Del - D 79402664 79402669 1 20 378.009 - - 4 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 3 7 3 25 26 25 26 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471029 7 79710401 AT A 300 PASS - - - - - Del - D 79710401 79710411 1 12 270.007 - - 9 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 5 3 22 10 22 10 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471039 7 79755255 GA G 360 PASS - - - - - Del - D 79755255 79755263 1 12 324.008 - - 7 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 5 1 7 1 24 8 24 8 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471049 7 79775788 GT G 300 PASS GNAI1 CCDS5595.1 r.? - - Del intronic D 79775788 79775796 1 10 270.007 - - 7 1 1 GNAI1|CCDS5595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GNAI1|CCDS5595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 4 4 4 29 20 29 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471235 7 80646718 GT G 540 PASS - - - - - Del - D 80646718 80646726 1 24 486.012 - - 7 1 - - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 7 4 9 22 35 22 35 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471268 7 80739785 TATTA T 300 PASS - - - - - Del - D 80739785 80739793 4 10 270.007 - - 1 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 1 4 2 20 4 20 4 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471272 7 80754210 C CT 300 PASS - - - - - Ins - I 80754210 80754218 1 12 266.394 - - 7 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 3 2 4 13 25 13 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471358 7 81164752 TA T 300 PASS - - - - - Del - D 81164752 81164760 1 10 270.007 - - 7 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 1 4 1 4 27 21 27 21 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471389 7 81335401 A AT 480 PASS HGF CCDS5597.1 r.? - - Ins intronic I 81335401 81335409 1 24 427.194 - - 7 1 1 HGF|CCDS5597.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HGF|CCDS5597.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 21 7 21 0 0 ./. 5 3 7 3 23 11 23 11 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471555 7 81928445 GA G 300 PASS CACNA2D1 CCDS5598.1 r.? - - Del intronic D 81928445 81928455 1 10 270.007 - - 9 1 1 CACNA2D1|CCDS5598.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA2D1|CCDS5598.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 10 21 10 0 0 ./. 4 1 4 1 18 9 18 9 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471658 7 82219159 AT A 720 PASS - - - - - Del - D 82219159 82219169 1 48 648.016 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 7 5 8 23 29 23 29 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471712 7 82551220 TA T 360 PASS PCLO CCDS47630.1 r.? - - Del intronic D 82551220 82551228 1 15 324.008 - - 7 1 1 PCLO|CCDS47630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCLO|CCDS47630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 2 7 4 19 22 19 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471732 7 82660726 AT A 300 PASS PCLO CCDS47630.1 r.? - - Del intronic D 82660726 82660733 1 6 270.007 - - 6 1 1 PCLO|CCDS47630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCLO|CCDS47630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 0 5 1 5 12 22 12 22 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760471806 7 82868000 AT A 420 PASS - - - - - Del - D 82868000 82868010 1 18 375.601 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 5 2 10 17 30 17 30 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472042 7 83673049 G GT 480 PASS SEMA3A CCDS5599.1 r.? - - Ins intronic I 83673049 83673056 1 24 426.592 - - 6 1 1 SEMA3A|CCDS5599.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SEMA3A|CCDS5599.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 3 5 3 41 21 41 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472053 7 83715357 AT A 300 PASS SEMA3A CCDS5599.1 r.? - - Del intronic D 83715357 83715364 1 12 270.007 - - 6 1 1 SEMA3A|CCDS5599.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEMA3A|CCDS5599.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 3 2 3 3 12 11 12 11 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472161 7 84134287 GA G 420 PASS - - - - - Del - D 84134287 84134297 1 20 376.805 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 3 5 4 16 18 16 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472211 7 84364089 GT G 360 PASS - - - - - Del - D 84364089 84364098 1 15 324.008 - - 8 1 1 - - ./. 0 0 0 0 8 21 8 21 0 0 ./. 2 4 2 4 14 27 14 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472229 7 84478375 A AG 360 PASS - - - - - Ins - I 84478375 84478380 1 16 320.396 - - 4 1 1 - - ./. 0 0 0 0 25 16 25 16 0 0 ./. 3 3 5 3 24 14 24 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472241 7 84583631 CT C 282 PASS - - - - - Del - D 84583631 84583639 1 20 378.009 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 3 4 4 28 28 28 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472254 7 84687718 CT C 300 PASS SEMA3D CCDS34676.1 r.? - - Del intronic D 84687718 84687728 1 10 269.405 - - 9 1 1 SEMA3D|CCDS34676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEMA3D|CCDS34676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 1 7 1 22 3 22 3 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472526 7 85787015 AT A 300 PASS - - - - - Del - D 85787015 85787025 1 10 269.405 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 1 8 1 38 3 38 3 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472531 7 85794049 GT G 420 PASS - - - - - Del - D 85794049 85794058 1 14 378.009 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 6 1 6 1 29 4 29 4 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472687 7 86352066 TA T 300 PASS GRM3 CCDS5600.1 r.? - - Del intronic D 86352066 86352075 1 6 269.405 - - 8 1 1 GRM3|CCDS5600.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GRM3|CCDS5600.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 0 5 0 5 4 18 4 18 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472846 7 87216733 C CT 467 PASS ABCB1 CCDS5608.1 r.? - - Ins intronic I 87216733 87216736 1 16 427.194 - - 2 1 1 ABCB1|CCDS5608.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCB1|CCDS5608.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 23 13 23 0 0 ./. 7 1 7 2 27 16 27 16 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472895 7 87551434 CA C 360 PASS - - - - - Del - D 87551434 87551444 1 16 324.008 - - 9 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 3 3 4 5 30 21 30 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760472951 7 87749220 A AT 336 PASS ADAM22 CCDS43609.1 r.? - - Ins intronic I 87749220 87749225 1 15 320.396 - - 4 1 1 ADAM22|CCDS43609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAM22|CCDS43609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 4 2 4 3 38 3 38 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760473125 7 88418017 TA T 300 PASS ZNF804B CCDS5613.1 r.? - - Del intronic D 88418017 88418021 1 10 270.007 - - 3 1 1 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 1 4 1 4 6 20 6 20 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760473161 7 88501282 CA C 360 PASS ZNF804B CCDS5613.1 r.? - - Del intronic D 88501282 88501292 1 7 324.008 - - 9 1 1 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 20 6 20 0 0 ./. 6 0 7 1 33 15 33 15 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760473207 7 88688182 AT A 420 PASS ZNF804B CCDS5613.1 r.? - - Del intronic D 88688182 88688191 1 20 378.009 - - 8 1 1 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 4 3 4 24 22 24 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760473292 7 88896183 GTC G 360 PASS ZNF804B CCDS5613.1 r.? - - Del intronic D 88896183 88896187 2 15 319.793 - - 1 1 - ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 2 9 2 35 7 35 7 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760473506 7 89680273 G GA 420 PASS - - - - - Ins - I 89680273 89680283 1 18 369.58 - - 9 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 2 5 2 7 27 45 27 45 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760473587 7 89950300 T TC 449 PASS - - - - - Ins - I 89950300 89950304 1 24 424.184 - - 3 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 5 4 5 31 32 33 32 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760473685 7 90252931 GT G 300 PASS CDK14 ENST00000380050 r.? - - Del intronic D 90252931 90252940 1 10 270.007 - - 8 1 1 CDK14|ENST00000380050|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDK14|ENST00000380050|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 1 6 1 17 6 17 6 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760473762 7 90516457 A AT 300 PASS CDK14 CCDS5619.1 r.? - - Ins intronic I 90516457 90516464 1 12 266.996 - - 6 1 1 CDK14|CCDS5619.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDK14|CCDS5619.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 3 2 4 9 34 9 34 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760473929 7 91165380 GA G 480 PASS - - - - - Del - D 91165380 91165390 1 25 431.408 - - 9 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 4 4 4 6 20 23 20 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760473943 7 91195298 ACTT A 449 PASS - - - - - Del - D 91195298 91195307 3 24 429.602 - - 2 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 3 5 4 17 24 17 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760473944 7 91196212 GT G 360 PASS - - - - - Del - D 91196212 91196222 1 15 323.406 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 2 5 3 18 20 18 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474080 7 91808711 TG T 360 PASS ENSG00000240720 ENST00000343318 r.134delC c.? p.? Del 5'UTR variant D 91808711 91808719 1 15 320.396 - - 7 1 1 ENSG00000240720|ENST00000343318|r.134delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ENSG00000240720|ENST00000343318|r.134delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 15 5 15 5 0 0 ./. 2 4 4 5 18 35 18 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474207 7 92382105 G GT 360 PASS CDK6 CCDS5628.1 r.? - - Ins intronic I 92382105 92382114 1 15 320.396 - - 8 1 1 CDK6|CCDS5628.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDK6|CCDS5628.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 4 4 6 17 25 17 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474252 7 92619170 CA C 480 PASS - - - - - Del - D 92619170 92619180 1 24 427.194 - - 9 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 5 5 6 23 27 23 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474323 7 92859170 G GT 300 PASS CCDC132 CCDS43617.1 r.? - - Ins upstream I 92859170 92859178 1 12 266.996 - - 7 1 1 CCDC132|CCDS43617.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CCDC132|CCDS43617.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 19 14 19 14 0 0 ./. 3 2 4 3 20 20 20 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474334 7 92938346 A AT 540 PASS CCDC132 CCDS43617.1 r.? - - Ins intronic I 92938346 92938355 1 24 480.593 - - 8 1 1 CCDC132|CCDS43617.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC132|CCDS43617.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 12 22 12 0 0 ./. 2 7 2 8 21 31 21 31 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474338 7 92979999 GA G 300 PASS CCDC132 CCDS43617.1 r.? - - Del intronic D 92979999 92980009 1 10 270.007 - - 9 1 1 CCDC132|CCDS43617.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC132|CCDS43617.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 4 1 5 2 21 27 21 27 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474382 7 93173891 G GT 300 PASS CALCR CCDS5631.1 r.? - - Ins intronic I 93173891 93173900 1 12 266.996 - - 8 1 1 CALCR|CCDS5631.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CALCR|CCDS5631.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 20 16 20 0 0 ./. 2 3 3 3 27 6 27 6 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474482 7 93532468 TC T 420 PASS GNGT1 CCDS5633.1 r.? - - Del upstream D 93532468 93532474 1 14 378.009 - - 5 1 1 GNGT1|CCDS5633.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 GNGT1|ENST00000455502|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 6 1 10 1 41 15 41 15 10 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474587 7 94185016 AT A 300 PASS CASD1 CCDS5636.1 r.2628delU c.2341delT p.C783fs*21 Del frameshift D 94185016 94185024 1 12 270.007 - - 7 1 1 CASD1|CCDS5636.1|r.2628delU|c.2341delT|p.C783fs*21|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CASD1|CCDS5636.1|r.2628delU|c.2341delT|p.C783fs*21|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 3 2 3 20 18 20 18 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474589 7 94192177 TCTC T 478 PASS - - - - - Del - D 94192177 94192183 3 28 486.012 - - 1 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 3 6 3 7 25 36 25 36 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474605 7 94262935 CA C 540 PASS SGCE CCDS47642.1 r.? - - Del intronic D 94262935 94262945 1 28 484.808 - - 9 1 1 SGCE|CCDS47642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCE|CCDS47642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 6 3 6 19 18 19 18 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474642 7 94408377 CA C 300 PASS - - - - - Del - D 94408377 94408387 1 10 270.007 - - 9 1 1 - - ./. 0 0 0 0 20 8 20 8 0 0 ./. 4 1 5 1 18 14 18 14 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474720 7 94677811 AT A 300 PASS PPP1R9A CCDS34683.1 r.? - - Del intronic D 94677811 94677821 1 12 270.007 - - 9 1 1 PPP1R9A|CCDS34683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R9A|CCDS34683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 2 3 2 16 15 16 15 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474740 7 94741714 CA C 780 PASS PPP1R9A CCDS34683.1 r.? - - Del intronic D 94741714 94741720 1 56 701.415 - - 5 1 1 PPP1R9A|CCDS34683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R9A|CCDS34683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 7 6 9 7 23 31 23 31 9 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474777 7 94928081 CA C 420 PASS PON1 CCDS5638.1 r.1474delU c.? p.? Del 3'UTR variant D 94928081 94928090 1 20 376.203 - - 8 1 1 PON1|CCDS5638.1|r.1474delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PON1|CCDS5638.1|r.1474delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 18 9 18 0 0 ./. 4 3 5 7 32 20 32 20 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474852 7 95211475 TA T 300 PASS PDK4 CCDS5643.1 r.? - - Del downstream D 95211475 95211482 1 12 269.405 - - 6 1 1 PDK4|CCDS5643.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PDK4|CCDS5643.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 5 7 5 0 0 ./. 2 3 4 8 26 23 26 23 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760474872 7 95277043 CT C 300 PASS - - - - - Del - D 95277043 95277050 1 12 270.007 - - 6 1 1 - - ./. 0 0 0 0 13 27 13 27 0 0 ./. 2 3 3 5 11 32 11 32 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475121 7 96166846 AT A 300 PASS - - - - - Del - D 96166846 96166856 1 10 270.007 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 1 4 3 11 12 11 12 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475180 7 96396546 CT C 300 PASS - - - - - Del - D 96396546 96396554 1 10 268.802 - - 7 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 4 1 5 3 27 23 27 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475189 7 96427651 A AT 660 PASS - - - - - Ins - I 96427651 96427657 1 40 586.79 - - 5 1 1 - - ./. 0 0 0 0 11 14 12 14 0 0 ./. 7 4 7 4 39 30 41 32 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475197 7 96469688 ACT A 540 PASS - - - - - Del - D 96469688 96469693 2 28 486.012 - - 2 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 6 3 7 6 22 27 22 27 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475276 7 96641265 CT C 420 PASS DLX6 CCDS47647.1 r.? - - Del downstream D 96641265 96641272 1 14 378.009 - - 6 1 1 DLX6|CCDS47647.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DLX6|CCDS47647.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 25 6 25 6 0 0 ./. 6 1 7 2 34 24 34 24 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475344 7 96842334 G GT 360 PASS - - - - - Ins - I 96842334 96842341 1 16 320.396 - - 6 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 3 5 4 27 27 28 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475392 7 97004130 CT C 300 PASS - - - - - Del - D 97004130 97004139 1 12 270.007 - - 8 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 3 2 27 16 27 16 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475542 7 97532973 TA T 328 PASS AC079781.1 ENST00000510081 r.? - - Del intronic D 97532973 97532982 1 20 378.009 - - 8 1 1 AC079781.1|ENST00000510081|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC079781.1|ENST00000510081|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 3 4 4 27 29 27 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475559 7 97574153 C CA 334 PASS AC079781.1 ENST00000510081 r.? - - Ins intronic I 97574153 97574160 1 16 320.396 - - 6 1 1 AC079781.1|ENST00000510081|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC079781.1|ENST00000510081|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 14 9 0 0 ./. 3 3 3 4 20 31 20 32 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475643 7 97726716 CA C 420 PASS - - - - - Del - D 97726716 97726718 1 20 378.009 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 4 5 6 17 21 17 21 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475828 7 98106060 GT G 300 PASS - - - - - Del - D 98106060 98106062 1 6 269.405 - - 1 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 5 0 7 0 25 14 25 14 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760475834 7 98117538 TG T 300 PASS - - - - - Del - D 98117538 98117546 1 10 268.2 - - 7 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 1 4 2 6 20 43 20 43 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760476166 7 98813818 G GT 329 PASS - - - - - Ins - I 98813818 98813825 1 16 319.191 - - 6 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 3 4 3 23 14 23 15 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760476265 7 99065488 C CA 360 PASS ZNF789 CCDS34693.1 r.? - - Ins upstream I 99065488 99065497 1 15 317.385 - - 8 1 1 ZNF789|CCDS34693.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ZNF789|CCDS34693.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 19 10 19 11 0 0 ./. 4 2 8 4 37 33 37 33 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760476349 7 99482940 TA T 360 PASS TRIM4 ENST00000447480 r.? - - Del intronic D 99482940 99482949 1 15 324.008 - - 8 1 1 TRIM4|ENST00000447480|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIM4|ENST00000447480|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 4 5 7 17 36 17 36 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760476401 7 99609897 GT G 300 PASS ZKSCAN1 CCDS34698.1 r.? - - Del upstream D 99609897 99609906 1 12 270.007 - - 8 1 - ZKSCAN1|CCDS34698.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZKSCAN1|CCDS34698.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 6 4 27 30 27 30 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760476535 7 99844033 TA T 420 PASS GATS CCDS43621.1 r.? - - Del intronic D 99844033 99844043 1 20 378.009 - - 9 1 1 GATS|CCDS43621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GATS|CCDS43621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 4 5 6 27 29 27 29 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760476699 7 100272361 TG T 540 PASS GNB2 CCDS5703.1 r.? - - Del intronic D 100272361 100272368 1 24 486.012 - - 6 1 1 GNB2|CCDS5703.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GNB2|CCDS5703.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 7 3 7 18 30 18 30 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760476989 7 100925962 C CA 300 PASS - - - - - Ins - I 100925962 100925970 1 12 260.374 - - 7 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 3 2 4 2 33 31 33 31 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760477231 7 101420605 CA C 360 PASS - - - - - Del - D 101420605 101420614 1 15 324.008 - - 8 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 4 5 4 23 35 23 35 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760477368 7 101696095 CT C 480 PASS CUX1 CCDS5721.1 r.? - - Del intronic D 101696095 101696104 1 24 432.01 - - 8 1 1 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 5 19 5 0 0 ./. 5 3 5 4 21 27 21 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760477448 7 101850817 AC A 457 PASS CUX1 CCDS5721.1 r.? - - Del intronic D 101850817 101850825 1 25 431.408 - - 7 1 1 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 4 4 3 28 21 28 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760477651 7 102573737 AG A 329 PASS FBXL13 CCDS47678.1 r.? - - Del intronic D 102573737 102573740 1 16 319.191 - - 2 1 1 FBXL13|CCDS47678.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRC17|ENST00000455453|r.62delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 5 6 19 30 19 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760477870 7 103398440 A AT 389 PASS RELN CCDS47680.1 r.? - - Ins intronic I 103398440 103398447 1 20 372.591 - - 6 1 1 RELN|CCDS47680.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RELN|CCDS47680.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 3 5 3 25 14 25 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760477962 7 103631944 T TA 300 PASS RELN CCDS47680.1 r.? - - Ins upstream I 103631944 103631947 1 12 266.996 - - 2 1 1 RELN|CCDS47680.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 RELN|CCDS47680.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 2 4 3 31 27 31 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478093 7 104120774 AC A 360 PASS LHFPL3 ENST00000424859 r.? - - Del intronic D 104120774 104120781 1 15 324.008 - - 6 1 1 LHFPL3|ENST00000424859|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHFPL3|ENST00000424859|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 2 4 2 5 25 23 25 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478165 7 104383409 CA C 480 PASS LHFPL3 ENST00000424859 r.? - - Del intronic D 104383409 104383419 1 24 430.204 - - 9 1 1 LHFPL3|ENST00000424859|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHFPL3|ENST00000424859|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 5 3 6 19 19 19 19 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478282 7 104752835 AC A 360 PASS MLL5 CCDS34723.1 r.5178delC c.4633delC p.P1546fs*59 Del frameshift D 104752835 104752841 1 15 324.008 - - 5 1 1 MLL5|CCDS34723.1|r.5178delC|c.4633delC|p.P1546fs*59|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 MLL5|CCDS34723.1|r.5178delC|c.4633delC|p.P1546fs*59|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 5 13 5 13 0 0 ./. 4 2 5 5 23 20 23 20 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478299 7 104798868 AT A 457 PASS SRPK2 CCDS5735.1 r.? - - Del intronic D 104798868 104798874 1 21 432.01 - - 5 1 1 SRPK2|CCDS5735.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRPK2|CCDS5735.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 6 6 6 25 29 25 29 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478384 7 104972830 C CA 300 PASS SRPK2 CCDS34724.1 r.? - - Ins intronic I 104972830 104972839 1 12 266.996 - - 8 1 1 SRPK2|CCDS34724.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SRPK2|CCDS34724.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 2 4 20 18 20 18 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478460 7 105114908 AT A 300 PASS PUS7 CCDS34725.1 r.? - - Del intronic D 105114908 105114914 1 10 270.007 - - 5 1 1 PUS7|CCDS34725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PUS7|CCDS34725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 1 4 1 5 19 18 19 18 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478534 7 105229360 A AT 300 PASS - - - - - Ins - I 105229360 105229368 1 10 266.996 - - 7 1 1 - - ./. 0 0 0 0 16 13 16 14 0 0 ./. 1 4 2 8 22 27 23 28 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478632 7 105468448 GA G 300 PASS ATXN7L1 CCDS47682.1 r.? - - Del intronic D 105468448 105468457 1 10 270.007 - - 8 1 1 ATXN7L1|CCDS47682.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATXN7L1|CCDS47682.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 1 4 2 4 25 23 25 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478699 7 105616051 GCT G 360 PASS CDHR3 CCDS47684.1 r.? - - Del intronic D 105616051 105616056 2 16 322.804 - - 2 1 1 CDHR3|CCDS47684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDHR3|CCDS47684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 3 3 3 24 15 24 15 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478712 7 105664548 GT G 420 PASS CDHR3 CCDS47684.1 r.? - - Del intronic D 105664548 105664557 1 18 378.009 - - 8 1 1 CDHR3|CCDS47684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDHR3|CCDS47684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 5 7 8 28 35 28 35 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478824 7 106053786 AT A 300 PASS - - - - - Del - D 106053786 106053796 1 10 270.007 - - 9 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 1 4 3 6 25 23 25 23 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760478876 7 106283929 TA T 420 PASS - - - - - Del - D 106283929 106283938 1 18 378.009 - - 8 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 5 2 8 31 32 31 32 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760479020 7 106748113 GT G 480 PASS PRKAR2B CCDS5740.1 r.? - - Del intronic D 106748113 106748122 1 25 430.204 - - 8 1 1 PRKAR2B|CCDS5740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKAR2B|CCDS5740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 4 4 7 5 23 32 23 32 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760479474 7 108210948 TA T 420 PASS THAP5 CCDS47687.1 r.? - - Del upstream D 108210948 108210958 1 20 378.009 - - 9 1 1 THAP5|CCDS47687.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 DNAJB9|CCDS5752.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 3 6 6 32 27 32 27 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760479801 7 109435278 CA C 274 PASS - - - - - Del - D 109435278 109435287 1 15 322.202 - - 8 1 1 - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 2 4 2 5 24 27 24 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760479843 7 109653016 TA T 300 PASS - - - - - Del - D 109653016 109653019 1 10 268.2 - - 2 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 1 4 1 6 21 22 21 22 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760479873 7 109733650 GA G 360 PASS - - - - - Del - D 109733650 109733660 1 15 324.008 - - 9 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 2 4 3 6 17 29 17 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760479913 7 109888518 CA C 480 PASS - - - - - Del - D 109888518 109888527 1 16 432.01 - - 8 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 1 7 1 10 24 39 24 39 1 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760479926 7 109957195 CA C 360 PASS - - - - - Del - D 109957195 109957205 1 12 322.202 - - 9 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 5 1 5 2 33 26 33 26 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760480051 7 110420750 TA T 480 PASS IMMP2L CCDS5753.1 r.? - - Del intronic D 110420750 110420760 1 16 429.602 - - 9 1 1 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 1 7 2 8 17 27 17 27 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760480307 7 111551560 TA T 300 PASS DOCK4 CCDS47688.1 r.? - - Del intronic D 111551560 111551568 1 12 265.792 - - 7 1 1 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 3 5 13 18 13 18 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760480337 7 111680938 TA T 480 PASS DOCK4 CCDS47688.1 r.? - - Del intronic D 111680938 111680943 1 25 432.01 - - 4 1 1 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 4 6 4 28 25 28 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760480376 7 111841725 TG T 420 PASS DOCK4 CCDS47688.1 r.? - - Del intronic D 111841725 111841733 1 18 376.805 - - 7 1 1 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 2 11 3 34 27 34 27 11 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760480417 7 112003556 TA T 300 PASS - - - - - Del - D 112003556 112003565 1 10 270.007 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 4 1 4 29 14 29 14 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760480426 7 112058218 C CA 300 PASS IFRD1 CCDS34736.1 r.? - - Ins upstream I 112058218 112058228 1 12 266.996 - - 9 1 1 IFRD1|CCDS34736.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 IFRD1|CCDS34736.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 14 7 14 8 0 0 ./. 2 3 4 4 36 32 36 32 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760480473 7 112172363 GATCT G 269 PASS - - - - - Del - D 112172363 112172370 4 12 270.007 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 2 5 10 28 10 28 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760480605 7 112657172 CA C 329 PASS - - - - - Del - D 112657172 112657181 1 15 323.406 - - 8 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 4 2 8 23 26 23 26 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760480950 7 114107993 C CT 360 PASS FOXP2 CCDS43635.1 r.? - - Ins intronic I 114107993 114108001 1 15 320.396 - - 7 1 1 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 4 2 5 2 22 13 22 13 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481002 7 114334554 GT G 300 PASS FOXP2 CCDS43635.1 r.? - - Del downstream D 114334554 114334562 1 10 270.007 - - 7 1 1 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 1 4 1 31 27 31 27 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481017 7 114365348 G GT 360 PASS - - - - - Ins - I 114365348 114365358 1 15 319.793 - - 9 1 1 - - ./. 0 0 0 0 17 21 18 21 0 0 ./. 2 4 3 5 22 22 22 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481034 7 114393948 GA G 420 PASS - - - - - Del - D 114393948 114393958 1 20 378.009 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 4 3 6 31 30 31 30 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481063 7 114481571 GA G 300 PASS - - - - - Del - D 114481571 114481577 1 10 270.007 - - 5 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 1 7 2 25 17 25 17 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481139 7 114718437 GT G 449 PASS - - - - - Del - D 114718437 114718447 1 25 424.786 - - 9 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 4 3 7 34 32 35 32 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481353 7 115593231 TG T 420 PASS TFEC CCDS5762.1 r.? - - Del intronic D 115593231 115593238 1 18 378.009 - - 6 1 1 TFEC|CCDS5762.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TFEC|CCDS5762.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 2 5 2 20 27 20 27 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481370 7 115682202 GA G 420 PASS TFEC ENST00000484212 r.? - - Del intronic D 115682202 115682207 1 20 378.009 - - 4 1 1 TFEC|ENST00000484212|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TFEC|ENST00000484212|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 4 3 9 25 29 25 29 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481559 7 116373484 CT C 360 PASS MET CCDS43636.1 r.? - - Del intronic D 116373484 116373492 1 16 324.008 - - 7 1 1 MET|CCDS43636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MET|CCDS43636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 3 5 18 30 18 30 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481562 7 116377636 A AT 360 PASS MET CCDS43636.1 r.? - - Ins intronic I 116377636 116377645 1 16 317.385 - - 8 1 1 MET|CCDS43636.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MET|CCDS43636.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 5 5 32 36 32 36 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481599 7 116503428 GC G 360 PASS CAPZA2 CCDS5768.1 r.? - - Del intronic D 116503428 116503438 1 15 317.385 - - 9 1 1 CAPZA2|CCDS5768.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAPZA2|CCDS5768.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 2 7 4 26 28 26 28 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481610 7 116533185 GT G 300 PASS CAPZA2 CCDS5768.1 r.? - - Del intronic D 116533185 116533193 1 10 270.007 - - 7 1 1 CAPZA2|CCDS5768.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAPZA2|CCDS5768.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 1 6 2 27 17 27 17 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481619 7 116562083 TA T 420 PASS CAPZA2 CCDS5768.1 r.? - - Del downstream D 116562083 116562092 1 18 378.009 - - 8 1 1 CAPZA2|CCDS5768.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CAPZA2|CCDS5768.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 2 8 2 25 20 25 20 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481655 7 116692413 AT A 329 PASS ST7OT3 CCDS5770.1 r.? - - Del intronic D 116692413 116692423 1 15 322.804 - - 9 1 1 ST7OT3|CCDS5770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST7OT3|CCDS5770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 4 2 5 13 24 13 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481672 7 116825442 T TA 300 PASS ST7OT3 CCDS5770.1 r.? - - Ins intronic I 116825442 116825450 1 12 266.996 - - 7 1 1 ST7OT3|CCDS5770.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ST7OT3|CCDS5770.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 3 3 11 23 12 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481694 7 116970131 CT C 300 PASS - - - - - Del - D 116970131 116970140 1 12 270.007 - - 8 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 2 5 2 25 28 25 28 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481696 7 116985359 CT C 480 PASS - - - - - Del - D 116985359 116985369 1 21 432.01 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 6 3 6 24 31 24 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760481794 7 117581775 C CA 300 PASS - - - - - Ins - I 117581775 117581778 1 12 266.996 - - 2 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 2 4 4 23 15 23 15 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760482096 7 118795963 G GT 360 PASS - - - - - Ins - I 118795963 118795966 1 15 320.396 - - 2 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 2 5 2 19 8 19 8 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760482102 7 118803255 T TG 480 PASS - - - - - Ins - I 118803255 118803256 1 25 427.194 - - 0 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 4 4 4 6 21 25 21 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760482183 7 119246274 GC G 300 PASS - - - - - Del - D 119246274 119246279 1 10 270.007 - - 4 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 1 4 1 22 10 22 10 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760482385 7 120400657 GA G 420 PASS - - - - - Del - D 120400657 120400663 1 20 376.805 - - 5 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 4 3 4 32 30 32 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760482387 7 120409000 GA G 300 PASS - - - - - Del - D 120409000 120409006 1 10 270.007 - - 5 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 1 4 1 5 26 23 26 23 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760482415 7 120508040 CT C 360 PASS - - - - - Del - D 120508040 120508049 1 7 324.008 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 0 6 0 30 5 30 5 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760482865 7 122122081 TA T 360 PASS CADPS2 CCDS47691.1 r.? - - Del intronic D 122122081 122122089 1 16 324.008 - - 7 1 1 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 6 3 21 30 21 30 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760482894 7 122221386 AT A 300 PASS CADPS2 CCDS47691.1 r.? - - Del intronic D 122221386 122221394 1 10 270.007 - - 7 1 1 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 1 5 1 16 15 16 15 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760482919 7 122287022 TA T 360 PASS CADPS2 CCDS47691.1 r.? - - Del intronic D 122287022 122287029 1 15 322.804 - - 6 1 1 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 2 6 3 25 24 25 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760482995 7 122526439 AC A 540 PASS CADPS2 CCDS47691.1 r.73delG c.? p.? Del 5'UTR variant D 122526439 122526445 1 24 478.185 - - 5 1 1 CADPS2|CCDS47691.1|r.73delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 CADPS2|CCDS47691.1|r.73delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 15 7 15 7 0 0 ./. 7 2 8 2 26 33 26 33 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483002 7 122542414 AT A 300 PASS - - - - - Del - D 122542414 122542422 1 12 270.007 - - 7 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 2 3 19 9 19 9 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483062 7 122724492 GT G 457 PASS - - - - - Del - D 122724492 122724499 1 25 432.01 - - 6 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 4 4 4 22 24 22 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483258 7 123437024 CA C 480 PASS - - - - - Del - D 123437024 123437034 1 25 432.01 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 4 6 5 30 19 30 19 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483333 7 123645637 C CCT 300 PASS - - - - - Ins - I 123645637 123645654 2 6 263.986 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 0 7 3 33 36 33 36 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483410 7 123881089 GT G 420 PASS - - - - - Del - D 123881089 123881097 1 20 378.009 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 3 5 3 27 35 27 35 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483469 7 124032163 AT A 360 PASS - - - - - Del - D 124032163 124032170 1 15 324.008 - - 6 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 4 2 4 24 14 24 14 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483491 7 124137260 AT A 360 PASS - - - - - Del - D 124137260 124137270 1 15 324.008 - - 9 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 2 4 2 5 19 19 19 19 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483561 7 124393048 GA G 300 PASS GPR37 CCDS5792.1 r.? - - Del intronic D 124393048 124393058 1 10 270.007 - - 9 1 1 GPR37|CCDS5792.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR37|CCDS5792.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 4 1 7 4 27 4 27 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483749 7 125006973 AT A 420 PASS - - - - - Del - D 125006973 125006983 1 8 378.009 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 0 7 2 7 22 20 22 20 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483759 7 125028518 AT A 300 PASS - - - - - Del - D 125028518 125028528 1 12 270.007 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 3 3 25 22 25 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483808 7 125141569 AT A 420 PASS - - - - - Del - D 125141569 125141576 1 20 378.009 - - 6 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 4 4 4 25 34 25 34 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483878 7 125323263 CA C 300 PASS - - - - - Del - D 125323263 125323271 1 10 270.007 - - 7 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 1 4 1 6 25 25 25 25 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760483943 7 125538545 TAAG T 269 PASS - - - - - Del - D 125538545 125538555 3 10 270.007 - - 3 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 1 4 1 4 13 23 13 23 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760484017 7 125775689 TAGG T 300 PASS - - - - - Del - D 125775689 125775695 3 12 268.802 - - 1 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 2 4 2 19 10 19 10 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760484044 7 126011744 AC A 300 PASS - - - - - Del - D 126011744 126011746 1 10 270.007 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 1 5 4 25 20 25 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760484313 7 127240818 G GA 300 PASS FSCN3 CCDS34746.1 r.? - - Ins intronic I 127240818 127240827 1 10 266.996 - - 8 1 1 FSCN3|CCDS34746.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 FSCN3|CCDS34746.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 1 7 2 30 28 30 28 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760484377 7 127422572 TG T 300 PASS SND1 CCDS34747.1 r.? - - Del intronic D 127422572 127422579 1 12 270.007 - - 6 1 1 SND1|CCDS34747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SND1|CCDS34747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 3 2 3 21 22 21 22 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760484414 7 127555078 AT A 360 PASS SND1 CCDS34747.1 r.? - - Del intronic D 127555078 127555088 1 15 324.008 - - 9 1 1 SND1|CCDS34747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SND1|CCDS34747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 11 21 11 0 0 ./. 4 2 4 3 24 17 24 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760484438 7 127650523 TC T 540 PASS SND1 CCDS34747.1 r.? - - Del intronic D 127650523 127650529 1 30 486.012 - - 5 1 1 SND1|CCDS34747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SND1|CCDS34747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 4 7 4 25 23 25 23 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760484522 7 127899811 TC T 480 PASS LEP CCDS5800.1 r.? - - Del downstream D 127899811 127899816 1 25 432.01 - - 4 1 1 LEP|CCDS5800.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LEP|CCDS5800.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 4 4 4 29 28 29 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760484564 7 128000154 GC G 540 PASS PRRT4 CCDS47698.1 r.? - - Del intronic D 128000154 128000161 1 28 476.981 - - 6 1 1 PRRT4|CCDS47698.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PRRT4|CCDS47698.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 6 4 9 26 41 26 41 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760484583 7 128043890 AG A 300 PASS IMPDH1 CCDS34749.1 r.? - - Del intronic D 128043890 128043897 1 12 270.007 - - 6 1 1 IMPDH1|CCDS34749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IMPDH1|CCDS34749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 4 2 22 19 22 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760484593 7 128065805 C CA 300 PASS - - - - - Ins - I 128065805 128065814 1 10 266.996 - - 8 1 1 - - ./. 0 0 0 0 12 12 13 13 0 0 ./. 1 4 5 7 27 40 28 41 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760485211 7 129372229 GT G 354 PASS NRF1 CCDS5813.2 r.? - - Del intronic D 129372229 129372237 1 12 324.008 - - 7 1 1 NRF1|CCDS5813.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRF1|CCDS5813.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 1 8 2 24 35 24 35 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760485452 7 129785135 TC T 720 PASS - - - - - Del - D 129785135 129785143 1 45 647.414 - - 7 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 8 5 9 26 26 26 26 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760485464 7 129799974 CCTCT C 300 PASS TMEM209 CCDS47712.1 r.? - - Del downstream D 129799974 129799988 4 12 270.007 - - 6 1 1 TMEM209|CCDS47712.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TMEM209|CCDS47712.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 3 4 29 18 29 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760485551 7 130038411 T TA 300 PASS TSGA14 CCDS5821.1 r.1713_1714insu c.? p.? Ins 3'UTR variant I 130038411 130038421 1 12 266.996 - - 9 1 1 TSGA14|CCDS5821.1|r.1713_1714insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 TSGA14|CCDS5821.1|r.1713_1714insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 2 6 2 31 24 31 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760485618 7 130340094 GT G 300 PASS COPG2 ENST00000330992 r.? - - Del intronic D 130340094 130340104 1 12 269.405 - - 9 1 1 COPG2|ENST00000330992|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COPG2|ENST00000330992|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 23 20 23 0 0 ./. 2 3 6 5 18 18 18 18 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760485655 7 130419416 CA C 300 PASS KLF14 CCDS5825.1 r.? - - Del upstream D 130419416 130419424 1 10 270.007 - - 7 1 1 KLF14|CCDS5825.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KLF14|CCDS5825.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 1 5 1 32 17 32 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760485752 7 130709543 AT A 269 PASS - - - - - Del - D 130709543 130709552 1 10 270.007 - - 8 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 1 4 2 6 17 32 17 32 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760485903 7 131050568 GT G 297 PASS MKLN1 CCDS34754.1 r.? - - Del intronic D 131050568 131050578 1 10 270.007 - - 9 1 1 MKLN1|CCDS34754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MKLN1|CCDS34754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 9 20 9 0 0 ./. 4 1 4 2 17 20 17 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760486040 7 131353984 C CA 360 PASS - - - - - Ins - I 131353984 131353994 1 12 320.396 - - 9 1 1 - - ./. 0 0 0 0 9 22 9 22 0 0 ./. 5 1 7 3 32 27 32 27 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760486350 7 132444131 CT C 480 PASS - - - - - Del - D 132444131 132444139 1 24 432.01 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 3 7 3 29 24 29 24 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760486369 7 132504177 CT C 360 PASS CHCHD3 CCDS5828.1 r.? - - Del intronic D 132504177 132504185 1 16 324.008 - - 7 1 1 CHCHD3|CCDS5828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHCHD3|CCDS5828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 3 3 4 4 21 28 21 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760486480 7 132845021 GA G 480 PASS - - - - - Del - D 132845021 132845029 1 25 432.01 - - 7 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 4 4 5 5 30 29 30 29 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760486492 7 132901916 TAA T 600 PASS - - - - - Del - D 132901916 132901921 2 27 538.207 - - 4 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 2 8 3 8 29 25 29 25 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760486575 7 133177404 CT C 420 PASS EXOC4 CCDS5829.1 r.? - - Del intronic D 133177404 133177413 1 14 378.009 - - 8 1 1 EXOC4|CCDS5829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC4|CCDS5829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 1 6 1 7 10 27 10 27 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760486682 7 133477776 CT C 267 PASS EXOC4 CCDS5829.1 r.? - - Del intronic D 133477776 133477785 1 12 324.008 - - 8 1 1 EXOC4|CCDS5829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC4|CCDS5829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 12 3 12 0 0 ./. 1 5 3 7 25 33 25 33 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760486962 7 134353432 AT A 420 PASS BPGM CCDS5833.1 r.? - - Del intronic D 134353432 134353439 1 20 378.009 - - 6 1 1 BPGM|CCDS5833.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BPGM|CCDS5833.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 3 4 3 23 22 23 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760486969 7 134384940 CA C 300 PASS - - - - - Del - D 134384940 134384950 1 12 270.007 - - 9 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 3 2 4 3 26 22 26 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760486970 7 134385397 CT C 300 PASS - - - - - Del - D 134385397 134385405 1 12 270.007 - - 7 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 2 3 6 3 31 25 31 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487056 7 134597370 AT A 420 PASS CALD1 CCDS5836.1 r.? - - Del intronic D 134597370 134597378 1 20 378.009 - - 7 1 1 CALD1|CCDS5836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CALD1|CCDS5836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 2 9 2 0 0 ./. 4 3 8 7 25 29 25 29 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487127 7 134745367 AT A 300 PASS AGBL3 CCDS47718.1 r.? - - Del intronic D 134745367 134745377 1 10 270.007 - - 9 1 1 AGBL3|CCDS47718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGBL3|CCDS47718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 4 1 30 7 30 7 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487334 7 135260244 TA T 420 PASS NUP205 CCDS34759.1 r.? - - Del intronic D 135260244 135260254 1 18 378.009 - - 9 1 1 NUP205|CCDS34759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUP205|CCDS34759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 5 2 7 23 24 23 24 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487358 7 135322456 TA T 300 PASS NUP205 CCDS34759.1 r.? - - Del intronic D 135322456 135322466 1 10 262.782 - - 9 1 1 NUP205|CCDS34759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUP205|CCDS34759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 3 12 3 0 0 ./. 1 4 1 4 19 37 19 37 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487473 7 135661006 A AC 420 PASS LUZP6 CCDS5842.1 r.? - - Ins intronic I 135661006 135661013 1 14 373.795 - - 6 1 1 LUZP6|CCDS5842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LUZP6|CCDS5842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 1 6 1 6 29 28 29 30 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487477 7 135674851 CA C 360 PASS - - - - - Del - D 135674851 135674859 1 12 324.008 - - 7 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 1 6 1 35 11 35 11 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487649 7 136138575 AT A 420 PASS - - - - - Del - D 136138575 136138585 1 18 378.009 - - 9 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 2 6 5 29 21 29 21 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487670 7 136189318 AT A 300 PASS - - - - - Del - D 136189318 136189326 1 6 270.007 - - 7 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 5 0 5 0 12 4 12 4 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487810 7 136626473 CT C 300 PASS CHRM2 CCDS5843.1 r.? - - Del intronic D 136626473 136626479 1 12 268.802 - - 5 1 1 CHRM2|CCDS5843.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHRM2|CCDS5843.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 3 3 4 19 23 19 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487834 7 136701593 C CT 420 PASS CHRM2 CCDS5843.1 r.2509_2510insu c.? p.? Ins 3'UTR variant I 136701593 136701599 1 18 373.795 - - 5 1 1 CHRM2|CCDS5843.1|r.2509_2510insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 CHRM2|CCDS5843.1|r.2509_2510insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 2 7 3 33 21 33 22 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487838 7 136727073 GA G 300 PASS - - - - - Del - D 136727073 136727083 1 12 270.007 - - 9 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 2 3 5 22 27 22 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487840 7 136732404 TG T 540 PASS - - - - - Del - D 136732404 136732413 1 30 484.206 - - 8 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 4 5 5 5 15 22 15 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760487911 7 136938331 GCA G 540 PASS PTN CCDS5844.1 r.595_596delUG c.167_168delTG p.V56fs*19 Del frameshift D 136938331 136938343 2 30 486.012 - - 5 1 1 PTN|CCDS5844.1|r.595_596delUG|c.167_168delTG|p.V56fs*19|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PTN|CCDS5844.1|r.595_596delUG|c.167_168delTG|p.V56fs*19|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 4 7 4 29 24 29 24 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760488103 7 137737949 CTG C 300 PASS - - - - - Del - D 137737949 137737953 2 6 270.007 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 0 7 0 37 7 37 7 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760488187 7 137956636 C CA 300 PASS - - - - - Ins - I 137956636 137956643 1 12 266.394 - - 6 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 3 2 25 7 25 8 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760488502 7 138630445 CT C 540 PASS KIAA1549 ENST00000440172 r.? - - Del intronic D 138630445 138630453 1 24 483.002 - - 7 1 1 KIAA1549|ENST00000440172|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1549|ENST00000440172|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 7 2 7 4 32 22 32 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760488614 7 138887422 CT C 329 PASS - - - - - Del - D 138887422 138887432 1 12 323.406 - - 9 1 - - - ./. 0 0 0 0 18 6 18 6 0 0 ./. 5 1 6 2 23 17 23 17 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760488625 7 138950223 CA C 300 PASS UBN2 CCDS43655.1 r.? - - Del intronic D 138950223 138950233 1 12 270.007 - - 9 1 1 UBN2|CCDS43655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBN2|CCDS43655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 2 3 3 4 26 23 26 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760488667 7 139038564 CA C 300 PASS LUC7L2 ENST00000448820 r.? - - Del intronic D 139038564 139038574 1 10 270.007 - - 9 1 1 LUC7L2|ENST00000448820|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LUC7L2|ENST00000448820|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 1 5 3 36 24 36 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760488754 7 139169581 AT A 480 PASS KLRG2 CCDS5854.1 r.? - - Del upstream D 139169581 139169588 1 24 432.01 - - 6 1 1 KLRG2|CCDS5854.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KLRG2|CCDS5854.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 5 13 5 13 0 0 ./. 5 3 7 4 24 20 24 20 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760488771 7 139255028 CG C 360 PASS HIPK2 ENST00000406875 r.6336delC c.? p.? Del 3'UTR variant D 139255028 139255038 1 12 324.008 - - 9 1 1 HIPK2|ENST00000406875|r.6336delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 HIPK2|ENST00000406875|r.6336delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 6 10 6 10 0 0 ./. 5 1 5 2 27 9 27 9 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760488885 7 139729444 GA G 420 PASS PARP12 CCDS5857.1 r.? - - Del intronic D 139729444 139729454 1 18 376.203 - - 9 1 1 PARP12|CCDS5857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARP12|CCDS5857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 5 2 6 17 23 17 23 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760488896 7 139759726 TGAG T 449 PASS PARP12 CCDS5857.1 r.? - - Del intronic D 139759726 139759736 3 24 432.01 - - 3 1 1 PARP12|CCDS5857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARP12|CCDS5857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 5 3 8 26 25 26 25 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760489018 7 139996989 CA C 420 PASS - - - - - Del - D 139996989 139996999 1 20 378.009 - - 9 1 1 - - ./. 0 0 0 0 11 2 11 2 0 0 ./. 3 4 3 6 26 24 26 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760489030 7 140020948 TA T 360 PASS - - - - - Del - D 140020948 140020958 1 16 320.998 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 3 3 3 17 23 17 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760489134 7 140161444 TA T 360 PASS MKRN9P CCDS5860.1 r.? - - Del intronic D 140161444 140161454 1 15 324.008 - - 9 1 1 MKRN9P|CCDS5860.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MKRN9P|CCDS5860.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 4 3 5 25 26 25 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760489172 7 140206420 CT C 540 PASS - - - - - Del - D 140206420 140206430 1 28 486.012 - - 9 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 6 3 7 3 26 21 26 21 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760489246 7 140371260 T TA 327 PASS ADCK2 CCDS5861.1 r.? - - Ins upstream I 140371260 140371269 1 20 373.193 - - 8 1 1 ADCK2|CCDS5861.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 DENND2A|ENST00000489552|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 4 3 4 26 30 26 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760489284 7 140452475 AT A 300 PASS BRAF CCDS5863.1 r.? - - Del intronic D 140452475 140452485 1 6 265.19 - - 9 1 1 BRAF|CCDS5863.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRAF|CCDS5863.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 0 5 0 8 5 26 5 26 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760489406 7 140756822 CA C 389 PASS - - - - - Del - D 140756822 140756830 1 18 358.141 - - 7 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 5 4 6 31 23 31 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760489440 7 140899380 T TTC 357 PASS - - - - - Ins - I 140899380 140899396 2 15 315.579 - - 7 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 2 4 3 37 26 37 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760489621 7 141508699 TA T 360 PASS - - - - - Del - D 141508699 141508708 1 15 324.008 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 2 5 3 22 26 22 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760489929 7 142478379 CTT C 600 PASS PRSS2 ENST00000311757 r.? - - Del intronic D 142478379 142478383 2 35 540.013 - - 3 1 1 PRSS2|ENST00000311757|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRSS2|ENST00000311757|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 7 3 7 0 0 ./. 6 4 7 5 10 9 10 9 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760489981 7 142855293 GA G 540 PASS - - - - - Del - D 142855293 142855303 1 28 485.41 - - 9 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 3 6 5 7 25 25 25 25 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490085 7 143227275 C CT 394 PASS - - - - - Ins - I 143227275 143227285 1 21 427.194 - - 9 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 6 2 10 2 31 28 31 28 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490208 7 144081825 TG T 360 PASS ARHGEF5 CCDS34771.1 r.? - - Del downstream D 144081825 144081831 1 15 324.008 - - 5 1 1 ARHGEF5|CCDS34771.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ARHGEF5|CCDS34771.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 2 7 2 25 23 25 23 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490380 7 144701440 CT C 480 PASS - - - - - Del - D 144701440 144701449 1 16 430.806 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 7 1 9 10 25 10 25 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490432 7 144841478 CT C 360 PASS - - - - - Del - D 144841478 144841488 1 15 323.406 - - 9 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 2 4 4 5 22 24 22 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490498 7 145044335 GA G 660 PASS - - - - - Del - D 145044335 145044343 1 42 593.412 - - 7 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 5 6 6 6 24 32 24 32 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490525 7 145170654 CT C 480 PASS - - - - - Del - D 145170654 145170664 1 24 432.01 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 5 3 8 13 22 13 22 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490639 7 145659123 CT C 300 PASS ENSG00000237800 ENST00000439291 r.? - - Del intronic D 145659123 145659132 1 12 269.405 - - 8 1 1 ENSG00000237800|ENST00000439291|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237800|ENST00000439291|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 3 4 19 13 19 13 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490864 7 146650485 TA T 300 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 146650485 146650494 1 12 270.007 - - 8 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 3 3 5 14 21 14 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490877 7 146693104 GT G 360 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 146693104 146693114 1 12 324.008 - - 9 1 - CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 5 2 7 14 22 14 22 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490918 7 146779185 GA G 360 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 146779185 146779194 1 16 324.008 - - 8 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 3 3 6 30 25 30 25 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490926 7 146825562 CT C 360 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 146825562 146825571 1 12 324.008 - - 8 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 5 1 7 1 20 2 20 2 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760490950 7 146917802 CT C 300 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 146917802 146917812 1 10 269.405 - - 9 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 1 4 2 5 13 12 13 12 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760491204 7 147674108 GA G 420 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 147674108 147674114 1 20 377.407 - - 5 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 3 4 3 28 23 28 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760491243 7 147785656 TA T 300 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 147785656 147785664 1 12 270.007 - - 7 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 3 2 5 2 19 17 19 17 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760491326 7 148021230 GC G 360 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 148021230 148021237 1 16 324.008 - - 6 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 3 4 3 25 19 25 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760491486 7 148402334 CT C 300 PASS CUL1 CCDS34772.1 r.? - - Del intronic D 148402334 148402343 1 10 270.007 - - 8 1 1 CUL1|CCDS34772.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CUL1|CCDS34772.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 1 4 1 5 14 25 14 25 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760491582 7 148659577 CT C 360 PASS - - - - - Del - D 148659577 148659586 1 12 324.008 - - 8 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 5 1 8 3 34 30 34 30 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760491590 7 148666699 CT C 420 PASS - - - - - Del - D 148666699 148666709 1 20 377.407 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 4 4 4 20 28 20 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760491616 7 148726620 GA G 360 PASS PDIA4 CCDS5893.1 r.? - - Del upstream D 148726620 148726629 1 12 322.202 - - 8 1 1 PDIA4|CCDS5893.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PDIA4|CCDS5893.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 6 10 6 10 0 0 ./. 5 1 5 4 24 30 24 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760491834 7 149134166 TA T 300 PASS ZNF777 CCDS43675.1 r.? - - Del intronic D 149134166 149134176 1 12 270.007 - - 9 1 1 ZNF777|CCDS43675.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF777|CCDS43675.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 3 2 4 26 26 26 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760491914 7 149370180 GA G 322 PASS - - - - - Del - D 149370180 149370189 1 20 376.805 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 4 5 4 29 33 29 33 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760491974 7 149620782 TAC T 252 PASS - - - - - Del - D 149620782 149620798 2 7 319.793 - - 7 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 6 0 6 0 27 6 27 6 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760492310 7 150673818 AC A 329 PASS KCNH2 CCDS5910.1 r.? - - Del intronic D 150673818 150673828 1 15 316.783 - - 9 1 1 KCNH2|CCDS5910.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH2|CCDS5910.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 2 4 2 4 14 13 14 13 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760492356 7 150818428 T TG 360 PASS AGAP3 CCDS43681.1 r.? - - Ins intronic I 150818428 150818437 1 15 319.793 - - 8 1 1 AGAP3|CCDS43681.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGAP3|CCDS43681.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 4 3 5 27 32 27 32 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760492464 7 151141892 AT A 600 PASS CRYGN CCDS5926.1 r.? - - Del upstream D 151141892 151141900 1 35 540.013 - - 7 1 1 CRYGN|CCDS5926.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CRYGN|CCDS5926.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 4 7 4 18 25 18 25 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760492619 7 151635519 CA C 480 PASS - - - - - Del - D 151635519 151635529 1 24 432.01 - - 9 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 5 4 7 22 36 22 36 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760492667 7 151736349 AT A 300 PASS GALNT11 CCDS5930.1 r.? - - Del intronic D 151736349 151736356 1 12 270.007 - - 6 1 1 GALNT11|CCDS5930.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GALNT11|CCDS5930.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 4 5 28 26 28 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760493012 7 152240499 C CA 269 PASS - - - - - Ins - I 152240499 152240508 1 10 266.996 - - 8 1 1 - - ./. 0 0 0 0 10 10 11 10 0 0 ./. 1 4 2 5 38 38 39 38 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760493121 7 152407056 CT C 420 PASS - - - - - Del - D 152407056 152407065 1 18 378.009 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 2 7 5 25 33 25 33 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760493399 7 153228818 CA C 537 PASS - - - - - Del - D 153228818 153228828 1 28 486.012 - - 9 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 3 9 3 33 28 33 28 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760493487 7 153552928 CA C 540 PASS - - - - - Del - D 153552928 153552938 1 18 486.012 - - 9 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 8 1 9 2 41 23 41 23 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760493573 7 153810417 TC T 389 PASS DPP6 ENST00000404039 r.? - - Del intronic D 153810417 153810424 1 20 378.009 - - 6 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 3 5 4 14 25 14 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760493592 7 153898220 G GT 660 PASS DPP6 ENST00000404039 r.? - - Ins intronic I 153898220 153898230 1 40 580.167 - - 9 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 7 4 9 5 36 28 36 28 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760493626 7 153985864 TA T 600 PASS DPP6 ENST00000404039 r.? - - Del intronic D 153985864 153985874 1 27 540.013 - - 9 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 8 3 9 26 37 26 37 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760493687 7 154186819 GA G 300 PASS DPP6 ENST00000404039 r.? - - Del intronic D 154186819 154186829 1 12 268.2 - - 9 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 3 2 4 26 31 26 31 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760493756 7 154515064 CA C 360 PASS DPP6 ENST00000404039 r.? - - Del intronic D 154515064 154515072 1 15 324.008 - - 7 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 2 5 3 29 22 29 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760493952 7 155107977 T TG 300 PASS - - - - - Ins - I 155107977 155107982 1 12 266.394 - - 4 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 3 2 4 4 28 16 28 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760494034 7 155278012 GA G 360 PASS CNPY1 CCDS43684.1 r.? - - Del intronic D 155278012 155278014 1 16 323.406 - - 1 1 1 CNPY1|CCDS43684.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 CNPY1|CCDS43684.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 5 4 25 21 25 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760494213 7 155741167 CTG C 420 PASS - - - - - Del - D 155741167 155741172 2 20 378.009 - - 2 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 3 5 3 23 24 23 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760494246 7 155847452 A AT 480 PASS - - - - - Ins - I 155847452 155847460 1 21 427.194 - - 7 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 6 2 6 2 23 24 24 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760494276 7 155916996 G GT 480 PASS - - - - - Ins - I 155916996 155916999 1 25 414.551 - - 2 1 1 - - ./. 0 0 0 0 9 10 10 10 0 0 ./. 4 4 7 4 34 23 34 23 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760494399 7 156262169 TA T 480 PASS - - - - - Del - D 156262169 156262179 1 25 432.01 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 4 6 4 30 21 30 21 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760494503 7 156651654 TA T 269 PASS LMBR1 CCDS5945.1 r.? - - Del intronic D 156651654 156651662 1 12 270.007 - - 7 1 1 LMBR1|CCDS5945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMBR1|CCDS5945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 4 13 4 0 0 ./. 3 2 4 4 19 25 19 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760494623 7 156922680 AT A 660 PASS - - - - - Del - D 156922680 156922689 1 42 593.412 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 5 7 8 31 25 31 25 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760494838 7 157515520 GT G 300 PASS PTPRN2 CCDS5949.1 r.? - - Del intronic D 157515520 157515522 1 12 266.996 - - 1 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 2 3 5 3 17 16 17 16 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760495068 7 158230113 GT G 420 PASS PTPRN2 CCDS5949.1 r.? - - Del intronic D 158230113 158230119 1 18 378.009 - - 5 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 2 5 3 27 34 27 34 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760495090 7 158297076 TC T 600 PASS PTPRN2 CCDS5949.1 r.? - - Del intronic D 158297076 158297085 1 32 540.013 - - 8 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 7 3 7 3 30 27 30 27 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760495209 7 158579115 GA G 420 PASS ESYT2 CCDS34791.1 r.? - - Del intronic D 158579115 158579124 1 8 374.397 - - 8 1 1 ESYT2|CCDS34791.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESYT2|CCDS34791.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 0 7 1 8 9 26 9 26 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760495546 8 469530 C CT 600 PASS C8orf42 CCDS47759.1 r.? - - Ins intronic I 469530 469536 1 36 529.941 - - 5 1 1 C8orf42|CCDS47759.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C8orf42|CCDS47759.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 5 8 5 0 0 ./. 5 5 5 5 28 28 28 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760495549 8 498098 AT A 360 PASS C8orf42 CCDS47759.1 r.? - - Del upstream D 498098 498108 1 16 324.467 - - 9 1 1 C8orf42|CCDS47759.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 C8orf42|CCDS47759.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 3 3 5 30 22 30 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760495584 8 655487 TA T 360 PASS ERICH1 CCDS5955.1 r.? - - Del intronic D 655487 655497 1 15 324.467 - - 9 1 1 ERICH1|CCDS5955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERICH1|CCDS5955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 4 2 8 26 34 26 34 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760495633 8 880623 C CT 300 PASS C8orf68 ENST00000450568 r.? - - Ins intronic I 880623 880626 1 12 267.379 - - 2 1 1 C8orf68|ENST00000450568|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C8orf68|ENST00000450568|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 2 3 3 26 24 26 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760495724 8 1208438 TG T 300 PASS - - - - - Del - D 1208438 1208446 1 12 269.787 - - 7 1 1 - - ./. 0 0 0 0 4 10 4 10 0 0 ./. 2 3 3 5 11 23 11 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760495743 8 1261625 T TC 300 PASS - - - - - Ins - I 1261625 1261633 1 12 267.379 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 4 5 26 28 27 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760495842 8 1688725 AT A 300 PASS - - - - - Del - D 1688725 1688733 1 10 270.389 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 4 3 5 23 30 23 30 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496156 8 2302773 CA C 360 PASS - - - - - Del - D 2302773 2302782 1 15 321.456 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 4 4 7 16 28 16 28 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496199 8 2447393 CA C 300 PASS AC104021.1 ENST00000515276 r.1387delU - - Del non-coding variant D 2447393 2447402 1 12 267.981 - - 8 1 1 AC104021.1|ENST00000515276|r.1387delU|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 AC104021.1|ENST00000515276|r.1387delU|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 2 6 2 30 19 30 19 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496225 8 2529562 CT C 420 PASS - - - - - Del - D 2529562 2529572 1 18 378.544 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 2 6 2 22 22 22 22 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496274 8 2729482 TA T 300 PASS - - - - - Del - D 2729482 2729484 1 10 270.389 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 1 4 3 7 18 26 18 26 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496284 8 2754724 AT A 660 PASS - - - - - Del - D 2754724 2754733 1 42 593.651 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 6 5 6 5 34 27 34 27 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496302 8 2783268 CT C 480 PASS - - - - - Del - D 2783268 2783278 1 25 430.816 - - 9 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 4 4 4 26 19 26 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496327 8 2875854 GA G 300 PASS CSMD1 ENST00000318252 r.? - - Del intronic D 2875854 2875861 1 6 270.389 - - 6 1 1 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 0 6 0 35 2 35 2 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496493 8 3409851 CT C 360 PASS CSMD1 ENST00000318252 r.? - - Del intronic D 3409851 3409861 1 15 323.865 - - 9 1 1 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 2 4 2 29 27 29 27 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496524 8 3457648 GAC G 480 PASS CSMD1 ENST00000318252 r.? - - Del intronic D 3457648 3457662 2 25 432.622 - - 6 1 1 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 14 5 14 0 0 ./. 4 4 4 5 41 18 41 18 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496587 8 3605308 CA C 358 PASS CSMD1 ENST00000318252 r.? - - Del intronic D 3605308 3605318 1 20 378.544 - - 9 1 1 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 4 3 5 22 29 22 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496845 8 4213256 AT A 360 PASS - - - - - Del - D 4213256 4213261 1 12 324.467 - - 4 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 1 7 3 34 13 34 13 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496943 8 4523546 AT A 300 PASS - - - - - Del - D 4523546 4523555 1 10 270.389 - - 8 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 4 1 4 1 21 14 21 14 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496945 8 4528880 T TA 600 PASS - - - - - Ins - I 4528880 4528889 1 32 534.757 - - 8 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 7 3 7 4 36 30 36 30 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496946 8 4533227 AT A 300 PASS - - - - - Del - D 4533227 4533236 1 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 2 3 3 38 26 38 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760496948 8 4553113 TC T 480 PASS - - - - - Del - D 4553113 4553121 1 24 430.214 - - 7 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 5 5 6 23 19 23 19 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760497051 8 4878300 TG T 360 PASS - - - - - Del - D 4878300 4878307 1 16 323.865 - - 6 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 3 3 4 4 18 38 18 38 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760497084 8 4965055 AT A 360 PASS - - - - - Del - D 4965055 4965065 1 15 324.467 - - 9 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 4 2 5 3 24 32 24 32 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760497243 8 5461164 CT C 300 PASS - - - - - Del - D 5461164 5461174 1 10 270.389 - - 9 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 1 5 1 25 13 25 13 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760497550 8 6242342 C CA 429 PASS - - - - - Ins - I 6242342 6242349 1 21 427.806 - - 6 1 1 - - ./. 0 0 0 0 13 21 14 21 0 0 ./. 6 2 6 4 29 27 29 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760497604 8 6325284 AT A 300 PASS MCPH1 CCDS43689.1 r.? - - Del intronic D 6325284 6325293 1 12 270.389 - - 8 1 1 MCPH1|CCDS43689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCPH1|CCDS43689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 2 5 4 26 30 26 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760497620 8 6372333 GC G 480 PASS MCPH1 CCDS43689.1 r.? - - Del intronic D 6372333 6372341 1 25 432.02 - - 7 1 1 MCPH1|CCDS43689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCPH1|CCDS43689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 4 4 5 5 25 28 25 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760497723 8 6622285 CA C 269 PASS AGPAT5 CCDS34796.1 r.? - - Del downstream D 6622285 6622294 1 6 270.389 - - 8 1 1 AGPAT5|CCDS34796.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AGPAT5|CCDS34796.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 14 11 14 0 0 ./. 0 5 2 6 25 34 25 34 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498167 8 8696758 GT G 360 PASS MFHAS1 CCDS34844.1 r.? - - Del intronic D 8696758 8696768 1 12 324.467 - - 9 1 1 MFHAS1|CCDS34844.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MFHAS1|CCDS34844.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 5 1 6 1 24 13 24 13 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498222 8 8805079 GT G 540 PASS - - - - - Del - D 8805079 8805089 1 30 486.7 - - 9 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 5 4 6 5 19 29 19 29 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498326 8 9048547 TA T 540 PASS - - - - - Del - D 9048547 9048556 1 30 486.7 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 5 5 6 30 25 30 25 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498419 8 9275808 TC T 540 PASS - - - - - Del - D 9275808 9275815 1 30 482.486 - - 6 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 5 6 6 23 23 23 23 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498460 8 9361956 AT A 528 PASS - - - - - Del - D 9361956 9361962 1 36 540.778 - - 5 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 5 5 5 5 18 27 18 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498474 8 9385720 T TA 600 PASS - - - - - Ins - I 9385720 9385730 1 32 534.757 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 7 5 7 25 22 25 23 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498575 8 9672957 CT C 540 PASS - - - - - Del - D 9672957 9672967 1 28 484.292 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 6 4 10 24 41 24 41 4 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498695 8 9900662 C CA 300 PASS - - - - - Ins - I 9900662 9900669 1 12 263.766 - - 6 1 - - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 3 2 3 18 19 18 21 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498696 8 9900668 AC A 329 PASS - - - - - Del - D 9900668 9900670 1 12 322.661 - - 1 1 - - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 1 6 3 18 18 18 18 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498714 8 9941193 GT G 420 PASS MSRA CCDS5975.1 r.? - - Del intronic D 9941193 9941203 1 14 378.544 - - 9 1 1 MSRA|CCDS5975.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSRA|CCDS5975.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 6 2 8 14 30 14 30 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498727 8 9967157 TC T 540 PASS MSRA CCDS47799.1 r.? - - Del intronic D 9967157 9967159 1 28 486.7 - - 1 1 1 MSRA|CCDS47799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSRA|CCDS47799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 6 4 7 30 28 30 28 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498877 8 10435080 A AT 326 PASS - - - - - Ins - I 10435080 10435086 1 15 320.854 - - 5 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 2 5 3 35 25 35 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498896 8 10490024 TC T 480 PASS RP1L1 CCDS43708.1 r.? - - Del intronic D 10490024 10490030 1 25 432.622 - - 5 1 1 RP1L1|CCDS43708.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RP1L1|CCDS43708.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 4 6 5 37 29 37 29 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498902 8 10505795 GC G 360 PASS RP1L1 CCDS43708.1 r.? - - Del intronic D 10505795 10505802 1 15 324.467 - - 6 1 1 RP1L1|CCDS43708.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RP1L1|CCDS43708.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 2 6 3 28 28 28 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760498944 8 10646088 GA G 360 PASS SOX7 CCDS47801.1 r.? - - Del intronic D 10646088 10646097 1 12 313.028 - - 8 1 1 SOX7|CCDS47801.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SOX7|CCDS47801.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 1 5 2 7 25 26 25 26 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760499046 8 11045120 GA G 540 PASS XKR6 CCDS5978.2 r.? - - Del intronic D 11045120 11045128 1 28 486.098 - - 7 1 1 XKR6|CCDS5978.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XKR6|CCDS5978.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 6 3 8 6 36 28 36 28 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760499123 8 11228476 CA C 329 PASS TDH ENST00000326605 r.? - - Del downstream D 11228476 11228482 1 16 316.64 - - 5 1 1 TDH|ENST00000326605|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C8orf12|ENST00000284481|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 3 4 5 25 13 25 13 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760499278 8 11601394 T TA 360 PASS GATA4 CCDS5983.1 r.? - - Ins intronic I 11601394 11601403 1 15 320.854 - - 8 1 1 GATA4|CCDS5983.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GATA4|CCDS5983.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 4 2 5 27 28 28 28 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760499727 8 12928367 AT A 269 PASS - - - - - Del - D 12928367 12928377 1 6 270.389 - - 9 1 1 - - ./. 0 0 0 0 18 6 18 6 0 0 ./. 5 0 7 3 24 27 24 27 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760499738 8 12942674 G GA 300 PASS DLC1 CCDS5989.1 r.5642_5643insu c.? p.? Ins 3'UTR variant I 12942674 12942683 1 12 250.521 - - 8 1 1 DLC1|CCDS5989.1|r.5642_5643insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 DLC1|CCDS5989.1|r.5642_5643insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 3 3 4 26 28 26 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760499833 8 13188188 CA C 720 PASS DLC1 CCDS5989.1 r.? - - Del intronic D 13188188 13188195 1 48 648.933 - - 6 1 1 DLC1|CCDS5989.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLC1|CCDS5989.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 7 5 7 5 23 25 23 25 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760499988 8 13519176 C CT 540 PASS - - - - - Ins - I 13519176 13519184 1 28 481.282 - - 7 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 6 5 7 32 29 33 31 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760500034 8 13601834 AT A 480 PASS - - - - - Del - D 13601834 13601844 1 16 432.622 - - 9 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 7 1 8 3 26 11 26 11 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760500087 8 13674380 C CT 300 PASS - - - - - Ins - I 13674380 13674388 1 6 267.379 - - 7 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 0 5 0 5 0 27 0 27 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760500363 8 14352846 CA C 540 PASS SGCZ CCDS5992.2 r.? - - Del intronic D 14352846 14352853 1 30 486.7 - - 6 1 1 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 5 5 7 21 30 21 30 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760500503 8 14723533 AT A 300 PASS SGCZ CCDS5992.2 r.? - - Del intronic D 14723533 14723541 1 12 270.389 - - 7 1 1 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 5 12 32 12 32 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760500551 8 14878833 GA G 300 PASS SGCZ CCDS5992.2 r.? - - Del intronic D 14878833 14878841 1 6 270.389 - - 7 1 1 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 0 5 1 33 19 33 19 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760500639 8 15117448 AT A 300 PASS - - - - - Del - D 15117448 15117458 1 12 270.389 - - 9 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 2 3 2 14 12 14 12 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760500655 8 15179961 CA C 329 PASS - - - - - Del - D 15179961 15179970 1 12 324.467 - - 8 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 5 1 6 2 21 15 21 15 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760500795 8 15573256 GA G 720 PASS TUSC3 CCDS5993.1 r.? - - Del intronic D 15573256 15573266 1 48 645.321 - - 9 1 1 TUSC3|CCDS5993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TUSC3|CCDS5993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 7 5 11 5 27 12 27 12 11 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760500811 8 15614646 TA T 300 PASS TUSC3 CCDS5993.1 r.? - - Del intronic D 15614646 15614654 1 12 267.981 - - 7 1 1 TUSC3|CCDS5993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TUSC3|CCDS5993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 3 2 5 3 24 12 24 12 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760500836 8 15680528 AT A 300 PASS - - - - - Del - D 15680528 15680536 1 12 270.389 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 2 3 21 21 21 21 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760500894 8 15788034 CA C 540 PASS - - - - - Del - D 15788034 15788044 1 30 486.098 - - 9 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 5 5 5 24 21 24 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760501022 8 16244170 CT C 300 PASS - - - - - Del - D 16244170 16244180 1 12 269.787 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 3 3 8 15 8 15 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760501189 8 16740400 CT C 329 PASS - - - - - Del - D 16740400 16740410 1 15 324.467 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 2 4 2 20 9 20 9 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760501230 8 16848880 TC T 300 PASS FGF20 CCDS5998.1 r.? - - Del downstream D 16848880 16848886 1 10 269.185 - - 5 1 1 FGF20|CCDS5998.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AC079193.1|ENST00000513892|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 4 1 4 17 24 17 24 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760501308 8 17082105 G GA 480 PASS ZDHHC2 CCDS47810.1 r.? - - Ins downstream I 17082105 17082115 1 24 427.806 - - 9 1 1 ZDHHC2|CCDS47810.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ZDHHC2|CCDS47810.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 3 7 4 29 33 29 33 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760501319 8 17119924 ATATAT A 269 PASS VPS37A CCDS6001.1 r.? - - Del intronic D 17119924 17119933 5 12 270.389 - - 1 1 1 VPS37A|CCDS6001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS37A|CCDS6001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 2 3 7 18 7 18 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760501370 8 17264776 TA T 300 PASS MTMR7 CCDS34851.1 r.? - - Del intronic D 17264776 17264786 1 10 270.389 - - 9 1 1 MTMR7|CCDS34851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTMR7|CCDS34851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 20 20 20 0 0 ./. 1 4 2 5 19 24 19 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760501764 8 18158448 CT C 540 PASS - - - - - Del - D 18158448 18158458 1 28 486.7 - - 9 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 6 5 6 23 11 23 11 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502046 8 18921650 CA C 540 PASS - - - - - Del - D 18921650 18921660 1 10 486.098 - - 9 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 0 9 0 11 4 35 4 35 0 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502068 8 18955588 TA T 300 PASS - - - - - Del - D 18955588 18955591 1 12 269.185 - - 2 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 2 3 2 28 22 28 22 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502168 8 19280094 TG T 300 PASS CSGALNACT1 CCDS6010.1 r.? - - Del intronic D 19280094 19280102 1 10 269.787 - - 7 1 1 CSGALNACT1|CCDS6010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSGALNACT1|CCDS6010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 4 1 6 30 27 30 27 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502314 8 19750738 GA G 360 PASS - - - - - Del - D 19750738 19750748 1 16 323.263 - - 9 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 3 3 4 7 30 25 30 25 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502317 8 19757656 CA C 480 PASS - - - - - Del - D 19757656 19757666 1 16 432.622 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 1 7 1 9 9 36 9 36 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502426 8 20067192 G GT 300 PASS ATP6V1B2 CCDS6014.1 r.? - - Ins intronic I 20067192 20067200 1 12 267.379 - - 7 1 1 ATP6V1B2|CCDS6014.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP6V1B2|CCDS6014.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 3 2 3 13 25 13 25 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502516 8 20464286 AC A 420 PASS - - - - - Del - D 20464286 20464294 1 18 378.544 - - 7 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 2 5 4 27 32 27 32 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502568 8 20677764 GT G 420 PASS - - - - - Del - D 20677764 20677774 1 14 377.942 - - 9 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 6 1 6 1 32 30 32 30 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502646 8 20969336 TA T 420 PASS - - - - - Del - D 20969336 20969345 1 18 377.34 - - 8 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 5 2 5 1 28 16 28 16 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502653 8 21008140 CA C 467 PASS - - - - - Del - D 21008140 21008149 1 27 540.778 - - 8 1 1 - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 2 8 3 9 17 27 17 27 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502656 8 21017179 CT C 449 PASS - - - - - Del - D 21017179 21017185 1 21 431.418 - - 5 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 2 7 3 37 14 37 14 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502676 8 21159407 GT G 300 PASS - - - - - Del - D 21159407 21159415 1 12 270.389 - - 7 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 2 3 20 20 20 20 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502791 8 21536457 CG C 480 PASS - - - - - Del - D 21536457 21536459 1 21 432.622 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 6 2 6 19 29 19 29 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502803 8 21581177 CG C 660 PASS GFRA2 CCDS47816.1 r.? - - Del intronic D 21581177 21581179 1 36 594.856 - - 1 1 1 GFRA2|CCDS47816.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GFRA2|CCDS47816.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 8 3 9 3 25 26 25 26 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502834 8 21667871 AC A 540 PASS - - - - - Del - D 21667871 21667878 1 28 486.7 - - 6 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 3 8 3 37 24 37 24 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502915 8 21821921 C CA 300 PASS XPO7 CCDS47817.1 r.? - - Ins intronic I 21821921 21821931 1 12 265.572 - - 9 1 1 XPO7|CCDS47817.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XPO7|CCDS47817.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 12 8 0 0 ./. 2 3 2 5 31 26 31 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502971 8 21993317 TC T 329 PASS HR CCDS6022.1 r.? - - Del upstream D 21993317 21993321 1 15 323.263 - - 3 1 1 HR|CCDS6022.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HR|CCDS6022.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 4 3 6 21 32 21 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760502980 8 22035962 CT C 420 PASS BMP1 CCDS6026.1 r.? - - Del intronic D 22035962 22035972 1 20 378.544 - - 9 1 1 BMP1|CCDS6026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BMP1|CCDS6026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 4 4 5 25 30 25 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760503142 8 22520320 G GA 420 PASS BIN3 CCDS47825.1 r.? - - Ins intronic I 22520320 22520330 1 20 373.126 - - 9 1 1 BIN3|CCDS47825.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BIN3|CCDS47825.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 3 7 3 33 27 33 27 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760503168 8 22573975 AG A 360 PASS PEBP4 CCDS43724.1 r.? - - Del intronic D 22573975 22573982 1 12 324.467 - - 6 1 1 PEBP4|CCDS43724.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PEBP4|CCDS43724.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 1 5 3 5 29 27 29 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760503185 8 22632992 A AG 420 PASS PEBP4 CCDS43724.1 r.? - - Ins intronic I 22632992 22633001 1 18 370.116 - - 8 1 1 PEBP4|CCDS43724.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PEBP4|CCDS43724.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 5 3 7 33 25 33 26 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760503533 8 23456446 TA T 329 PASS - - - - - Del - D 23456446 23456454 1 16 324.467 - - 7 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 3 3 3 17 23 17 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760504040 8 25089345 AT A 300 PASS DOCK5 CCDS6047.1 r.? - - Del intronic D 25089345 25089354 1 12 270.389 - - 8 1 1 DOCK5|CCDS6047.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK5|CCDS6047.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 13 24 13 0 0 ./. 3 2 3 3 14 27 14 27 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760504290 8 25683551 G GT 420 PASS - - - - - Ins - I 25683551 25683560 1 18 373.728 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 2 6 3 26 23 26 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760504383 8 25912738 AT A 329 PASS - - - - - Del - D 25912738 25912747 1 15 323.263 - - 8 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 4 2 3 15 4 15 5 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760504402 8 25957666 GA G 480 PASS - - - - - Del - D 25957666 25957674 1 24 432.622 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 3 5 4 17 21 17 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760504649 8 26573999 AC A 420 PASS - - - - - Del - D 26573999 26574001 1 20 378.544 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 3 5 4 20 28 20 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760504811 8 27069464 GT G 300 PASS - - - - - Del - D 27069464 27069470 1 10 270.389 - - 5 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 1 4 2 4 22 24 22 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505063 8 27767680 TTCTC T 389 PASS SCARA5 CCDS6064.1 r.? - - Del intronic D 27767680 27767695 4 20 378.544 - - 7 1 1 SCARA5|CCDS6064.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCARA5|CCDS6064.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 4 3 4 4 35 18 35 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505255 8 28252897 C CA 360 PASS - - - - - Ins - I 28252897 28252904 1 16 320.854 - - 6 1 1 - - ./. 0 0 0 0 12 10 13 11 0 0 ./. 3 3 3 6 18 30 18 30 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505423 8 28613271 TA T 600 PASS EXTL3 CCDS6070.1 r.? - - Del downstream D 28613271 28613281 1 36 539.574 - - 9 1 1 EXTL3|CCDS6070.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 EXTL3|CCDS6070.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 5 5 6 25 40 25 40 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505478 8 28767206 CA C 420 PASS HMBOX1 CCDS6071.1 r.? - - Del intronic D 28767206 28767216 1 20 376.136 - - 9 1 1 HMBOX1|CCDS6071.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HMBOX1|CCDS6071.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 4 4 4 26 16 26 16 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505487 8 28790594 CT C 360 PASS HMBOX1 CCDS6071.1 r.? - - Del intronic D 28790594 28790604 1 15 324.467 - - 9 1 1 HMBOX1|CCDS6071.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HMBOX1|CCDS6071.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 13 21 13 0 0 ./. 2 4 3 6 24 35 24 35 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505492 8 28813079 ACT A 300 PASS HMBOX1 CCDS6071.1 r.? - - Del intronic D 28813079 28813084 2 6 270.389 - - 2 1 1 HMBOX1|CCDS6071.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HMBOX1|CCDS6071.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 5 0 5 1 22 14 22 14 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505548 8 29033567 GA G 300 PASS KIF13B ENST00000357808 r.? - - Del intronic D 29033567 29033576 1 10 270.389 - - 8 1 1 KIF13B|ENST00000357808|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF13B|ENST00000357808|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 1 5 2 26 21 26 21 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505585 8 29152878 G GT 300 PASS - - - - - Ins - I 29152878 29152885 1 12 260.756 - - 6 1 1 - - ./. 0 0 0 0 12 9 13 9 0 0 ./. 2 3 3 4 27 21 27 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505628 8 29286905 GA G 420 PASS - - - - - Del - D 29286905 29286915 1 14 378.544 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 1 8 3 35 22 35 22 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505667 8 29388025 G GAT 269 PASS - - - - - Ins - I 29388025 29388036 2 12 263.164 - - 5 1 1 - - ./. 0 0 0 0 7 22 7 22 0 0 ./. 2 3 3 3 26 28 27 28 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505745 8 29637578 CA C 600 PASS - - - - - Del - D 29637578 29637588 1 35 535.961 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 6 4 11 30 31 30 31 4 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505748 8 29646212 CT C 600 PASS - - - - - Del - D 29646212 29646221 1 32 540.778 - - 8 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 7 3 7 4 25 27 25 27 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505811 8 29828773 CT C 480 PASS - - - - - Del - D 29828773 29828783 1 24 429.612 - - 9 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 5 4 7 28 30 28 30 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505861 8 29947834 CA C 629 PASS - - - - - Del - D 29947834 29947843 1 42 594.254 - - 8 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 5 6 6 6 21 36 21 36 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505897 8 30011942 G GT 480 PASS DCTN6 CCDS6076.1 r.? - - Ins upstream I 30011942 30011949 1 24 427.806 - - 6 1 1 DCTN6|CCDS6076.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 DCTN6|CCDS6076.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 10 11 10 12 0 0 ./. 5 3 5 3 24 25 25 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505908 8 30025381 A AT 300 PASS DCTN6 CCDS6076.1 r.? - - Ins intronic I 30025381 30025389 1 10 267.379 - - 7 1 1 DCTN6|CCDS6076.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DCTN6|CCDS6076.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 1 5 5 25 31 25 31 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505921 8 30077517 CATA C 300 PASS - - - - - Del - D 30077517 30077525 3 12 270.389 - - 2 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 2 3 3 3 26 31 26 31 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760505956 8 30182204 C CT 269 PASS - - - - - Ins - I 30182204 30182212 1 12 267.379 - - 7 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 2 3 3 26 32 26 32 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760506049 8 30396712 GT G 300 PASS RBPMS CCDS6077.1 r.? - - Del intronic D 30396712 30396718 1 12 270.389 - - 5 1 1 RBPMS|CCDS6077.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBPMS|CCDS6077.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 3 2 3 2 19 10 19 10 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760506055 8 30423229 CAA C 300 PASS RBPMS CCDS6077.1 r.? - - Del intronic D 30423229 30423233 2 12 268.583 - - 3 1 1 RBPMS|CCDS6077.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 RBPMS|CCDS6077.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 4 4 24 21 24 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760506095 8 30507289 C CA 300 PASS GTF2E2 CCDS6078.1 r.? - - Ins intronic I 30507289 30507298 1 12 266.777 - - 8 1 1 GTF2E2|CCDS6078.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GTF2E2|CCDS6078.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 2 6 3 28 31 28 32 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760506277 8 30994188 T TA 420 PASS WRN CCDS6082.1 r.? - - Ins intronic I 30994188 30994198 1 18 374.33 - - 9 1 1 WRN|CCDS6082.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WRN|CCDS6082.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 2 7 2 29 32 29 33 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760506319 8 31151751 GT G 600 PASS - - - - - Del - D 31151751 31151761 1 36 540.778 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 5 8 7 27 27 27 27 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760506391 8 31409083 AT A 360 PASS - - - - - Del - D 31409083 31409088 1 15 324.467 - - 4 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 2 4 4 6 21 22 21 22 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760506538 8 31894216 CT C 420 PASS NRG1 CCDS47836.1 r.? - - Del intronic D 31894216 31894224 1 20 378.544 - - 7 1 1 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 3 4 3 29 22 29 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760506574 8 31996255 AT A 600 PASS NRG1 CCDS47836.1 r.? - - Del intronic D 31996255 31996264 1 35 536.563 - - 8 1 1 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 6 6 6 26 29 26 29 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760506873 8 32707544 G GT 420 PASS - - - - - Ins - I 32707544 32707554 1 18 374.33 - - 9 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 5 2 7 5 28 26 29 26 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760506931 8 33044221 ATAAT A 358 PASS - - - - - Del - D 33044221 33044231 4 18 378.544 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 5 3 6 16 13 16 13 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507011 8 33305695 CA C 360 PASS FUT10 CCDS6088.1 r.? - - Del intronic D 33305695 33305705 1 16 318.446 - - 9 1 1 FUT10|CCDS6088.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FUT10|CCDS6088.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 3 7 7 20 20 20 20 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507111 8 33455533 TG T 300 PASS DUSP26 CCDS6092.1 r.? - - Del intronic D 33455533 33455539 1 10 270.389 - - 5 1 1 DUSP26|CCDS6092.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DUSP26|CCDS6092.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 4 1 5 2 17 20 17 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507139 8 33646865 GA G 360 PASS - - - - - Del - D 33646865 33646870 1 16 322.661 - - 4 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 4 4 25 23 25 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507237 8 33975065 TA T 300 PASS - - - - - Del - D 33975065 33975073 1 12 270.389 - - 7 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 2 3 2 30 18 30 18 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507240 8 33988174 CT C 480 PASS - - - - - Del - D 33988174 33988184 1 25 432.02 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 4 5 4 33 24 33 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507297 8 34191001 AT A 360 PASS - - - - - Del - D 34191001 34191007 1 7 324.467 - - 5 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 0 6 0 8 3 26 3 26 0 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507368 8 34517923 G GA 540 PASS - - - - - Ins - I 34517923 34517929 1 24 478.873 - - 5 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 7 2 10 3 42 26 42 26 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507449 8 34962610 G GA 300 PASS - - - - - Ins - I 34962610 34962619 1 12 267.379 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 2 3 2 36 22 36 22 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507462 8 35062689 TTGGA T 360 PASS - - - - - Del - D 35062689 35062714 4 16 324.467 - - 6 1 - - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 3 4 3 31 26 31 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507524 8 35297548 CT C 420 PASS UNC5D CCDS6093.2 r.? - - Del intronic D 35297548 35297553 1 14 378.544 - - 4 1 1 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 6 1 6 3 25 27 25 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507616 8 35794968 AAG A 360 PASS - - - - - Del - D 35794968 35794982 2 16 324.467 - - 6 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 3 3 5 13 33 13 33 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507621 8 35818749 CT C 300 PASS - - - - - Del - D 35818749 35818757 1 6 270.389 - - 7 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 0 6 0 18 3 18 3 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507709 8 36273881 CT C 720 PASS - - - - - Del - D 36273881 36273891 1 48 648.933 - - 9 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 7 5 9 6 23 21 23 21 9 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507742 8 36532615 TG T 420 PASS - - - - - Del - D 36532615 36532623 1 20 371.922 - - 7 1 - - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 4 3 5 19 24 19 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507850 8 36916266 GA G 420 PASS - - - - - Del - D 36916266 36916276 1 14 378.544 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 6 1 7 4 21 21 21 21 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760507899 8 37100914 CAGG C 480 PASS - - - - - Del - D 37100914 37100923 3 21 430.816 - - 2 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 2 6 3 24 38 24 38 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760508008 8 37418799 TG T 360 PASS - - - - - Del - D 37418799 37418805 1 12 323.865 - - 5 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 5 1 7 2 26 24 26 24 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760508053 8 37572306 CTT C 300 PASS - - - - - Del - D 37572306 37572310 2 12 270.389 - - 3 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 2 4 2 28 28 28 28 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760508111 8 37768056 TA T 360 PASS - - - - - Del - D 37768056 37768065 1 16 321.456 - - 8 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 3 4 4 23 27 23 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760508268 8 38122885 GT G 269 PASS DDHD2 CCDS34883.1 r.? - - Del downstream D 38122885 38122894 1 12 270.389 - - 8 1 1 DDHD2|CCDS34883.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PPAPDC1B|CCDS47841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 2 3 2 26 17 26 17 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760508282 8 38182279 AC A 420 PASS WHSC1L1 CCDS43729.1 r.? - - Del intronic D 38182279 38182287 1 20 376.738 - - 7 1 1 WHSC1L1|CCDS43729.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WHSC1L1|CCDS43729.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 4 3 4 27 17 27 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760508327 8 38308680 AG A 449 PASS FGFR1 CCDS6107.2 r.? - - Del intronic D 38308680 38308685 1 21 431.418 - - 4 1 1 FGFR1|CCDS6107.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGFR1|CCDS6107.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 6 5 6 34 31 34 31 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760508431 8 38584629 TG T 360 PASS TACC1 ENST00000443286 r.? - - Del upstream D 38584629 38584634 1 12 323.865 - - 4 1 1 TACC1|ENST00000443286|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TACC1|ENST00000443286|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 13 7 13 0 0 ./. 1 5 4 7 22 33 22 33 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760508491 8 38721025 CA C 360 PASS - - - - - Del - D 38721025 38721035 1 16 318.446 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 3 6 4 32 24 32 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760508699 8 39244648 AT A 360 PASS - - - - - Del - D 39244648 39244656 1 15 324.467 - - 7 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 4 2 6 5 31 24 31 24 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760508995 8 40047994 CA C 360 PASS - - - - - Del - D 40047994 40048001 1 16 324.467 - - 6 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 3 3 5 17 27 17 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509060 8 40284923 A AT 420 PASS - - - - - Ins - I 40284923 40284931 1 20 374.33 - - 7 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 3 4 5 24 22 24 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509071 8 40316622 GAA G 269 PASS - - - - - Del - D 40316622 40316627 2 12 270.389 - - 4 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 3 4 3 27 25 27 25 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509247 8 40705930 G GA 300 PASS ZMAT4 CCDS34885.1 r.? - - Ins intronic I 40705930 40705937 1 10 267.379 - - 6 1 1 ZMAT4|CCDS34885.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZMAT4|CCDS34885.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 4 5 18 25 18 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509275 8 40822482 C CA 449 PASS - - - - - Ins - I 40822482 40822492 1 24 423.591 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 5 4 6 19 32 19 32 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509399 8 41191951 TG T 300 PASS - - - - - Del - D 41191951 41191958 1 10 269.787 - - 6 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 1 4 1 5 17 27 17 27 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509432 8 41296283 CA C 720 PASS - - - - - Del - D 41296283 41296293 1 48 646.525 - - 9 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 7 5 11 6 44 28 44 28 11 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509464 8 41343052 CA C 629 PASS - - - - - Del - D 41343052 41343061 1 42 590.039 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 5 7 5 28 31 28 31 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509503 8 41434640 A AT 509 PASS AGPAT6 CCDS6117.1 r.? - - Ins upstream I 41434640 41434650 1 28 477.067 - - 9 1 1 AGPAT6|CCDS6117.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 AGPAT6|CCDS6117.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 8 15 8 16 0 0 ./. 6 3 7 3 28 24 28 24 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509739 8 42091009 GT G 300 PASS - - - - - Del - D 42091009 42091018 1 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 3 2 4 2 25 36 25 36 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509752 8 42149185 AT A 300 PASS IKBKB CCDS6128.1 r.? - - Del intronic D 42149185 42149195 1 12 270.389 - - 9 1 1 IKBKB|CCDS6128.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IKBKB|CCDS6128.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 2 4 3 28 21 28 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509933 8 42721127 C CA 329 PASS RNF170 CCDS6138.1 r.? - - Ins intronic I 42721127 42721136 1 16 307.609 - - 8 1 1 RNF170|CCDS6138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF170|CCDS6138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 2 15 2 15 0 0 ./. 3 3 3 5 5 26 5 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760509971 8 42890593 CA C 540 PASS HOOK3 CCDS6139.1 r.? - - Del downstream D 42890593 42890603 1 18 483.088 - - 9 1 1 HOOK3|CCDS6139.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 HOOK3|CCDS6139.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 9 13 9 0 0 ./. 8 1 11 1 28 18 28 18 11 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510002 8 42991741 CT C 269 PASS HGSNAT CCDS47852.1 r.? - - Del upstream D 42991741 42991751 1 12 268.583 - - 9 1 1 HGSNAT|CCDS47852.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HGSNAT|CCDS47852.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 2 4 5 28 26 28 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510056 8 43259675 TG T 540 PASS - - - - - Del - D 43259675 43259681 1 24 483.69 - - 5 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 7 2 8 17 33 17 33 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510076 8 43443813 AT A 480 PASS - - - - - Del - D 43443813 43443820 1 24 432.622 - - 6 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 3 6 3 34 24 34 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510080 8 43445737 CT C 420 PASS - - - - - Del - D 43445737 43445745 1 18 378.544 - - 7 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 2 5 2 6 28 29 28 29 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510103 8 43532896 CT C 465 PASS - - - - - Del - D 43532896 43532905 1 36 539.574 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 5 5 8 11 34 11 34 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510110 8 43568424 CT C 480 PASS - - - - - Del - D 43568424 43568433 1 24 432.622 - - 8 1 1 - - ./. 0 0 0 0 11 26 11 26 0 0 ./. 3 5 4 6 22 41 22 41 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510119 8 43610978 CT C 360 PASS - - - - - Del - D 43610978 43610987 1 12 324.467 - - 8 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 1 5 1 7 28 39 28 39 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510146 8 43712628 GT G 360 PASS - - - - - Del - D 43712628 43712635 1 15 323.865 - - 6 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 4 2 5 28 30 28 30 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510317 8 47054294 CCT C 540 PASS - - - - - Del - D 47054294 47054301 2 30 486.7 - - 3 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 5 5 5 21 21 21 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510329 8 47166632 GCC G 480 PASS - - - - - Del - D 47166632 47166642 2 25 432.622 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 4 5 6 23 23 23 23 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510482 8 47756750 CA C 300 PASS - - - - - Del - D 47756750 47756760 1 10 270.389 - - 9 1 - - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 4 2 6 24 30 24 30 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510516 8 47952415 CT C 389 PASS - - - - - Del - D 47952415 47952424 1 18 375.534 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 5 3 5 36 28 36 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510640 8 48486047 AC A 600 PASS KIAA0146 CCDS43737.1 r.? - - Del intronic D 48486047 48486054 1 32 538.37 - - 6 1 1 KIAA0146|CCDS43737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0146|CCDS43737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 8 20 8 0 0 ./. 7 3 7 4 27 23 27 23 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510649 8 48518383 TA T 480 PASS KIAA0146 CCDS43737.1 r.? - - Del intronic D 48518383 48518392 1 25 432.02 - - 8 1 1 KIAA0146|CCDS43737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0146|CCDS43737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 4 4 5 35 16 35 16 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510655 8 48550807 CT C 420 PASS KIAA0146 CCDS43737.1 r.? - - Del intronic D 48550807 48550815 1 18 378.544 - - 7 1 1 KIAA0146|CCDS43737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0146|CCDS43737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 5 2 5 3 22 10 22 10 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510695 8 48716312 AC A 360 PASS PRKDC ENST00000314191 r.? - - Del intronic D 48716312 48716315 1 15 323.865 - - 2 1 1 PRKDC|ENST00000314191|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKDC|ENST00000314191|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 4 3 5 23 23 23 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510730 8 48884454 GT G 420 PASS MCM4 CCDS6143.1 r.? - - Del intronic D 48884454 48884463 1 20 376.136 - - 8 1 1 MCM4|CCDS6143.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCM4|CCDS6143.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 4 4 6 22 28 22 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510770 8 48952290 CT C 269 PASS UBE2V2 CCDS43738.1 r.? - - Del intronic D 48952290 48952300 1 12 270.389 - - 9 1 1 UBE2V2|CCDS43738.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBE2V2|CCDS43738.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 6 3 23 15 23 15 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510816 8 49085708 G GC 298 PASS - - - - - Ins - I 49085708 49085714 1 15 313.63 - - 5 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 4 2 8 4 34 23 34 23 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760510830 8 49156862 CT C 360 PASS - - - - - Del - D 49156862 49156870 1 15 323.865 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 4 2 7 16 26 16 26 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511000 8 50109100 AT A 300 PASS - - - - - Del - D 50109100 50109108 1 12 270.389 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 2 3 2 27 21 27 21 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511007 8 50132918 GA G 360 PASS - - - - - Del - D 50132918 50132926 1 16 322.661 - - 7 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 3 6 4 26 19 26 19 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511102 8 50546346 CT C 300 PASS - - - - - Del - D 50546346 50546351 1 12 270.389 - - 4 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 3 2 32 22 32 22 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511234 8 51111699 GT G 420 PASS - - - - - Del - D 51111699 51111709 1 14 377.942 - - 9 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 1 6 3 7 18 31 18 31 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511270 8 51219464 CT C 300 PASS - - - - - Del - D 51219464 51219474 1 12 270.389 - - 9 1 1 - - ./. 0 0 0 0 10 22 10 22 0 0 ./. 2 3 3 3 6 18 6 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511388 8 51901505 C CT 292 PASS - - - - - Ins - I 51901505 51901514 1 12 266.777 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 4 4 26 24 26 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511389 8 51932646 AT A 300 PASS - - - - - Del - D 51932646 51932656 1 10 270.389 - - 9 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 1 4 2 4 6 25 6 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511430 8 52179418 AT A 480 PASS - - - - - Del - D 52179418 52179426 1 21 432.622 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 6 2 6 19 23 19 23 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511480 8 52384413 A AT 260 PASS PXDNL CCDS47855.1 r.? - - Ins intronic I 52384413 52384420 1 14 374.33 - - 6 1 1 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 1 6 1 30 18 30 19 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511488 8 52423376 G GA 480 PASS PXDNL CCDS47855.1 r.? - - Ins intronic I 52423376 52423383 1 24 426.602 - - 6 1 1 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 5 3 10 21 25 22 25 3 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511625 8 52792928 TA T 300 PASS PCMTD1 CCDS6148.1 r.? - - Del intronic D 52792928 52792937 1 12 270.389 - - 8 1 1 PCMTD1|CCDS6148.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCMTD1|CCDS6148.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 3 2 4 12 24 12 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511660 8 52889605 AT A 397 PASS - - - - - Del - D 52889605 52889615 1 14 375.534 - - 9 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 1 6 3 8 18 22 18 22 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511793 8 53428806 CG C 420 PASS - - - - - Del - D 53428806 53428808 1 20 376.738 - - 1 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 3 5 4 18 10 18 10 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511838 8 53609179 C CA 300 PASS RB1CC1 CCDS34892.1 r.? - - Ins intronic I 53609179 53609185 1 12 267.379 - - 5 1 1 RB1CC1|CCDS34892.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RB1CC1|CCDS34892.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 3 3 37 34 38 35 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511859 8 53667888 TG T 300 PASS - - - - - Del - D 53667888 53667890 1 12 269.787 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 3 4 22 18 22 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511963 8 54000659 CT C 300 PASS - - - - - Del - D 54000659 54000668 1 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 2 3 2 4 19 25 19 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511977 8 54065263 AT A 540 PASS - - - - - Del - D 54065263 54065273 1 28 486.7 - - 9 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 6 3 8 4 34 16 34 16 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760511992 8 54158545 A AT 300 PASS OPRK1 CCDS6152.1 r.? - - Ins intronic I 54158545 54158553 1 12 266.175 - - 7 1 1 OPRK1|CCDS6152.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OPRK1|CCDS6152.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 13 9 0 0 ./. 2 3 2 3 27 28 27 28 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760512198 8 54792853 TC T 420 PASS RGS20 CCDS6155.1 r.? - - Del intronic D 54792853 54792861 1 20 377.942 - - 7 1 1 RGS20|CCDS6155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS20|CCDS6155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 4 5 5 20 23 20 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760512240 8 54933894 CA C 540 PASS TCEA1 CCDS47858.1 r.? - - Del intronic D 54933894 54933903 1 30 486.7 - - 8 1 1 TCEA1|CCDS47858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCEA1|CCDS47858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 4 7 6 31 24 31 24 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760512387 8 55222384 AT A 420 PASS - - - - - Del - D 55222384 55222393 1 18 378.544 - - 8 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 5 2 5 3 34 18 34 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760512408 8 55276815 AT A 480 PASS - - - - - Del - D 55276815 55276824 1 24 432.622 - - 8 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 5 4 5 24 23 24 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760512494 8 55475658 CAG C 300 PASS RP1 ENST00000427058 r.? - - Del intronic D 55475658 55475675 2 12 270.389 - - 8 1 1 RP1|ENST00000427058|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RP1|ENST00000427058|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 4 5 22 20 22 20 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760512541 8 55635852 AT A 360 PASS RP1 ENST00000427058 r.? - - Del intronic D 55635852 55635861 1 15 324.467 - - 8 1 1 RP1|ENST00000427058|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RP1|ENST00000427058|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 2 4 3 29 25 29 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760512554 8 55693114 TA T 420 PASS - - - - - Del - D 55693114 55693120 1 18 378.544 - - 5 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 5 3 6 20 33 20 33 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760512712 8 56241392 A AC 360 PASS XKR4 CCDS34893.1 r.? - - Ins intronic I 56241392 56241398 1 16 320.854 - - 5 1 1 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 3 3 5 19 29 19 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760512802 8 56569263 GA G 250 PASS - - - - - Del - D 56569263 56569271 1 12 267.379 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 5 2 28 22 28 22 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760512902 8 56856644 C CA 420 PASS ENSG00000249529 ENST00000502902 r.? - - Ins intronic I 56856644 56856654 1 8 373.126 - - 9 1 1 ENSG00000249529|ENST00000502902|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000249529|ENST00000502902|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 0 7 0 7 0 27 0 27 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760512905 8 56872963 GA G 420 PASS ENSG00000249529 ENST00000502902 r.? - - Del intronic D 56872963 56872971 1 20 378.544 - - 7 1 1 ENSG00000249529|ENST00000502902|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000249529|ENST00000502902|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 3 4 4 7 20 18 20 18 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513002 8 57260358 CT C 360 PASS - - - - - Del - D 57260358 57260366 1 15 324.467 - - 7 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 4 3 4 17 23 17 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513074 8 57437461 GC G 300 PASS AC012349.1 ENST00000499425 r.? - - Del intronic D 57437461 57437469 1 12 268.583 - - 7 1 1 AC012349.1|ENST00000499425|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC012349.1|ENST00000499425|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 3 3 31 32 31 32 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513126 8 57651405 G GT 300 PASS - - - - - Ins - I 57651405 57651412 1 12 267.379 - - 6 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 3 5 23 22 23 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513179 8 57794266 G GA 300 PASS - - - - - Ins - I 57794266 57794276 1 12 267.379 - - 9 1 1 - - ./. 0 0 0 0 12 12 13 12 0 0 ./. 3 2 3 4 20 35 20 35 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513188 8 57875157 CT C 300 PASS IMPAD1 CCDS6169.1 r.2557delA c.? p.? Del 3'UTR variant D 57875157 57875167 1 6 269.185 - - 9 1 1 IMPAD1|CCDS6169.1|r.2557delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 IMPAD1|CCDS6169.1|r.2557delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 11 15 11 0 0 ./. 0 5 1 5 25 22 25 22 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513337 8 58533269 CA C 420 PASS - - - - - Del - D 58533269 58533278 1 20 378.544 - - 8 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 4 4 7 29 28 29 28 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513346 8 58608244 GA G 300 PASS - - - - - Del - D 58608244 58608252 1 12 270.389 - - 7 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 2 6 2 34 27 34 27 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513415 8 58973104 GTAT G 509 PASS FAM110B CCDS6170.1 r.? - - Del intronic D 58973104 58973112 3 28 486.7 - - 2 1 1 FAM110B|CCDS6170.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM110B|CCDS6170.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 6 3 7 25 37 25 37 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513422 8 59008744 CTT C 420 PASS FAM110B CCDS6170.1 r.? - - Del intronic D 59008744 59008753 2 20 377.34 - - 8 1 1 FAM110B|CCDS6170.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM110B|CCDS6170.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 4 3 4 35 25 35 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513514 8 59307992 C CT 300 PASS - - - - - Ins - I 59307992 59308001 1 6 267.379 - - 8 1 1 - - ./. 0 0 0 0 14 10 15 10 0 0 ./. 5 0 6 1 24 14 25 14 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513591 8 59636783 AT A 420 PASS - - - - - Del - D 59636783 59636792 1 18 377.942 - - 8 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 5 2 6 2 27 24 27 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513670 8 59905329 A AT 780 PASS TOX CCDS34897.1 r.? - - Ins intronic I 59905329 59905335 1 56 693.378 - - 5 1 1 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 7 8 7 34 27 34 27 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513672 8 59907810 GT G 360 PASS TOX CCDS34897.1 r.? - - Del intronic D 59907810 59907818 1 7 324.467 - - 7 1 1 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 6 0 7 3 26 25 26 25 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513778 8 60256643 GT G 360 PASS - - - - - Del - D 60256643 60256651 1 12 324.467 - - 7 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 1 5 1 5 25 20 25 20 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513795 8 60319087 CT C 300 PASS - - - - - Del - D 60319087 60319097 1 12 270.389 - - 9 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 2 6 4 29 24 29 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513957 8 61084043 CT C 480 PASS - - - - - Del - D 61084043 61084052 1 21 432.622 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 6 2 6 3 26 24 26 24 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760513971 8 61123187 TTC T 300 PASS CA8 CCDS6174.1 r.? - - Del intronic D 61123187 61123195 2 12 268.583 - - 3 1 1 CA8|CCDS6174.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CA8|CCDS6174.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 3 2 4 22 28 22 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514005 8 61197523 CT C 480 PASS CA8 CCDS6174.1 r.? - - Del upstream D 61197523 61197532 1 21 432.622 - - 8 1 1 CA8|CCDS6174.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CA8|CCDS6174.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 2 8 3 25 12 25 12 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514049 8 61322481 CG C 480 PASS AC022555.2 ENST00000506428 r.? - - Del intronic D 61322481 61322488 1 25 430.214 - - 6 1 1 AC022555.2|ENST00000506428|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC022555.2|ENST00000506428|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 4 8 4 29 27 29 27 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514195 8 61700124 CT C 389 PASS CHD7 CCDS47865.1 r.? - - Del intronic D 61700124 61700132 1 20 378.544 - - 7 1 1 CHD7|CCDS47865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHD7|CCDS47865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 4 5 6 30 21 30 21 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514209 8 61748467 GT G 720 PASS CHD7 CCDS47865.1 r.? - - Del intronic D 61748467 61748472 1 49 648.933 - - 4 1 1 CHD7|CCDS47865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHD7|CCDS47865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 6 6 10 39 38 39 38 6 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514220 8 61801323 GA G 420 PASS - - - - - Del - D 61801323 61801330 1 18 378.544 - - 6 1 1 - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 2 5 3 5 24 29 24 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514253 8 61877600 CT C 300 PASS - - - - - Del - D 61877600 61877610 1 10 270.389 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 1 6 3 28 16 28 16 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514276 8 61962383 CT C 300 PASS - - - - - Del - D 61962383 61962392 1 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 2 3 2 35 19 35 19 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514306 8 62066779 TG T 300 PASS - - - - - Del - D 62066779 62066781 1 12 269.185 - - 1 1 - - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 2 4 2 24 24 24 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514401 8 62358166 CT C 480 PASS CLVS1 CCDS6176.1 r.? - - Del intronic D 62358166 62358175 1 24 432.622 - - 8 1 1 CLVS1|CCDS6176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLVS1|CCDS6176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 5 3 5 6 24 22 24 22 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514441 8 62467307 AT A 569 PASS ASPH CCDS34898.1 r.? - - Del intronic D 62467307 62467314 1 36 531.145 - - 6 1 1 ASPH|CCDS34898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASPH|CCDS34898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 5 5 5 21 21 21 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514523 8 62823140 C CT 420 PASS - - - - - Ins - I 62823140 62823149 1 20 374.33 - - 8 1 1 - - ./. 0 0 0 0 12 9 14 9 0 0 ./. 3 4 3 4 26 29 26 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514603 8 63112963 CT C 300 PASS - - - - - Del - D 63112963 63112973 1 10 270.389 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 1 5 1 21 17 21 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514609 8 63146591 AT A 300 PASS - - - - - Del - D 63146591 63146600 1 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 3 5 23 17 23 17 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514715 8 63582151 CA C 360 PASS NKAIN3 ENST00000328472 r.? - - Del intronic D 63582151 63582160 1 16 324.467 - - 8 1 1 NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 3 3 3 25 20 25 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514796 8 63852252 CA C 480 PASS - - - - - Del - D 63852252 63852260 1 25 432.622 - - 7 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 4 5 5 16 20 16 20 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514813 8 63947588 GC G 300 PASS GGH CCDS6177.1 r.? - - Del intronic D 63947588 63947596 1 12 269.185 - - 7 1 1 GGH|CCDS6177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GGH|CCDS6177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 5 4 29 29 29 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514896 8 64264096 AT A 300 PASS - - - - - Del - D 64264096 64264099 1 10 270.389 - - 2 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 4 1 5 2 13 27 13 27 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760514910 8 64390517 C CA 360 PASS - - - - - Ins - I 64390517 64390527 1 15 319.65 - - 9 1 1 - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 2 4 2 4 31 25 31 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515073 8 65224287 GA G 360 PASS - - - - - Del - D 65224287 65224297 1 12 324.467 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 1 11 2 40 21 40 21 11 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515132 8 65413160 GA G 420 PASS - - - - - Del - D 65413160 65413168 1 14 378.544 - - 7 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 1 6 1 28 10 28 10 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515146 8 65486203 AT A 360 PASS - - - - - Del - D 65486203 65486213 1 12 324.467 - - 9 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 1 6 1 19 17 19 17 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515165 8 65630120 AT A 300 PASS CYP7B1 CCDS6180.1 r.? - - Del intronic D 65630120 65630128 1 10 270.389 - - 7 1 1 CYP7B1|CCDS6180.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYP7B1|CCDS6180.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 4 1 7 6 25 6 25 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515211 8 65802694 GA G 540 PASS - - - - - Del - D 65802694 65802704 1 30 486.7 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 5 4 6 5 15 28 15 28 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515269 8 66181752 G GA 360 PASS - - - - - Ins - I 66181752 66181762 1 12 320.854 - - 9 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 5 1 5 2 39 19 39 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515449 8 66685511 T TA 360 PASS PDE7A CCDS34901.1 r.? - - Ins intronic I 66685511 66685520 1 15 320.854 - - 8 1 1 PDE7A|CCDS34901.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE7A|CCDS34901.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 4 3 6 19 27 19 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515450 8 66687637 AT A 300 PASS PDE7A CCDS34901.1 r.? - - Del intronic D 66687637 66687644 1 6 270.389 - - 6 1 1 PDE7A|CCDS34901.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE7A|CCDS34901.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 0 6 0 22 4 22 4 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515484 8 66948632 CA C 300 PASS DNAJC5B CCDS6183.1 r.? - - Del intronic D 66948632 66948640 1 12 270.389 - - 7 1 1 DNAJC5B|CCDS6183.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DNAJC5B|CCDS6183.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 3 6 9 28 29 28 29 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515510 8 67070188 TC T 300 PASS TRIM55 CCDS6187.1 r.? - - Del intronic D 67070188 67070194 1 10 270.389 - - 5 1 1 TRIM55|CCDS6187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIM55|CCDS6187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 1 4 2 5 14 27 14 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515603 8 67396728 CT C 360 PASS - - - - - Del - D 67396728 67396737 1 15 322.058 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 2 8 2 36 25 36 25 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515607 8 67407845 C CT 540 PASS C8orf46 CCDS6191.2 r.? - - Ins intronic I 67407845 67407852 1 24 481.282 - - 6 1 1 C8orf46|CCDS6191.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C8orf46|CCDS6191.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 7 2 7 2 28 12 31 13 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515680 8 67664828 TG T 360 PASS SGK3 CCDS6195.1 r.? - - Del intronic D 67664828 67664836 1 15 324.467 - - 7 1 1 SGK3|CCDS6195.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SGK3|CCDS6195.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 2 4 2 20 16 20 16 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515716 8 67801868 C CA 360 PASS C8orf45 CCDS6197.2 r.? - - Ins intronic I 67801868 67801877 1 16 320.854 - - 8 1 1 C8orf45|CCDS6197.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C8orf45|CCDS6197.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 3 5 3 38 33 38 33 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515958 8 68666010 TA T 480 PASS - - - - - Del - D 68666010 68666019 1 21 430.816 - - 8 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 6 2 6 2 25 22 25 22 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760515992 8 68735682 TG T 420 PASS - - - - - Del - D 68735682 68735690 1 20 378.544 - - 7 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 3 4 3 22 19 22 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516071 8 68986503 AT A 540 PASS PREX2 CCDS6201.1 r.? - - Del intronic D 68986503 68986513 1 30 479.475 - - 9 1 1 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 5 4 6 25 23 25 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516197 8 69541290 CTT C 420 PASS C8orf34 CCDS6203.1 r.? - - Del intronic D 69541290 69541293 2 18 378.544 - - 2 1 1 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 5 2 6 4 26 24 26 24 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516203 8 69589594 C CT 420 PASS C8orf34 CCDS6203.1 r.? - - Ins intronic I 69589594 69589604 1 14 374.33 - - 9 1 1 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 6 1 8 2 21 36 22 37 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516209 8 69618029 GA G 540 PASS C8orf34 CCDS6203.1 r.? - - Del intronic D 69618029 69618039 1 30 486.098 - - 9 1 1 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 4 5 9 9 25 19 25 19 9 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516212 8 69647306 GT G 420 PASS C8orf34 CCDS6203.1 r.? - - Del intronic D 69647306 69647311 1 18 378.544 - - 4 1 1 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 2 6 4 26 19 26 19 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516260 8 69828134 T TA 420 PASS - - - - - Ins - I 69828134 69828144 1 8 373.126 - - 9 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 7 0 8 0 34 5 34 5 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516323 8 69987937 AAC A 300 PASS - - - - - Del - D 69987937 69987948 2 12 270.389 - - 5 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 4 5 17 29 17 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516384 8 70166333 GA G 288 PASS - - - - - Del - D 70166333 70166343 1 10 270.389 - - 9 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 1 4 2 5 21 30 21 30 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516448 8 70400454 CA C 420 PASS SULF1 CCDS6204.1 r.? - - Del upstream D 70400454 70400464 1 20 378.544 - - 9 1 1 SULF1|CCDS6204.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SULF1|CCDS6204.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 4 3 4 4 21 35 21 35 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516484 8 70502406 CT C 300 PASS SULF1 CCDS6204.1 r.? - - Del intronic D 70502406 70502415 1 12 269.787 - - 8 1 1 SULF1|CCDS6204.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SULF1|CCDS6204.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 4 3 16 31 16 31 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516714 8 71160441 AT A 420 PASS NCOA2 CCDS47872.1 r.? - - Del intronic D 71160441 71160447 1 20 378.544 - - 5 1 1 NCOA2|CCDS47872.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NCOA2|CCDS47872.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 3 8 3 28 32 28 32 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516723 8 71201853 C CA 600 PASS NCOA2 CCDS47872.1 r.? - - Ins intronic I 71201853 71201860 1 27 534.757 - - 6 1 1 NCOA2|CCDS47872.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NCOA2|CCDS47872.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 8 5 10 32 33 33 33 5 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516756 8 71330347 ACTT A 420 PASS - - - - - Del - D 71330347 71330354 3 18 378.544 - - 2 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 2 5 4 29 28 29 28 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516782 8 71385964 C CT 300 PASS - - - - - Ins - I 71385964 71385973 1 12 267.379 - - 8 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 2 3 2 5 9 18 9 18 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760516937 8 71821049 TA T 600 PASS - - - - - Del - D 71821049 71821058 1 35 540.778 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 4 7 6 17 29 17 29 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760517027 8 72131064 TG T 300 PASS EYA1 CCDS34906.1 r.? - - Del intronic D 72131064 72131071 1 12 269.185 - - 6 1 1 EYA1|CCDS34906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYA1|CCDS34906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 11 24 11 0 0 ./. 3 2 3 4 31 27 31 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760517340 8 73342716 CT C 300 PASS ENSG00000212989 ENST00000391672 r.? - - Del downstream D 73342716 73342725 1 10 270.389 - - 8 1 1 ENSG00000212989|ENST00000391672|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000212989|ENST00000391672|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 5 2 20 19 20 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760517369 8 73445887 CT C 360 PASS - - - - - Del - D 73445887 73445897 1 16 324.467 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 4 4 10 30 10 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760517389 8 73534821 T TA 540 PASS KCNB2 CCDS6209.1 r.? - - Ins intronic I 73534821 73534830 1 30 481.282 - - 8 1 1 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 4 5 4 26 36 26 37 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760517560 8 74162875 CT C 269 PASS - - - - - Del - D 74162875 74162883 1 6 270.389 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 0 5 0 19 5 19 5 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760517821 8 74885431 C CT 360 PASS TMEM70 CCDS47876.1 r.? - - Ins upstream I 74885431 74885441 1 12 320.252 - - 9 1 1 TMEM70|CCDS47876.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TMEM70|CCDS47876.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 22 15 22 15 0 0 ./. 1 5 1 6 22 30 23 31 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760518076 8 75663069 TATAG T 420 PASS - - - - - Del - D 75663069 75663077 4 14 378.544 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 6 1 6 13 17 13 17 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760518124 8 75843345 CT C 300 PASS - - - - - Del - D 75843345 75843353 1 12 270.389 - - 7 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 4 3 29 20 29 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760518253 8 76281693 AT A 300 PASS - - - - - Del - D 76281693 76281699 1 10 270.389 - - 5 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 1 7 2 30 19 30 19 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760518339 8 76548156 C CT 346 PASS - - - - - Ins - I 76548156 76548164 1 15 320.854 - - 7 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 2 8 3 31 26 31 26 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760518406 8 76848636 AT A 420 PASS - - - - - Del - D 76848636 76848645 1 20 376.738 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 4 5 5 24 21 24 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760518656 8 77828470 AT A 360 PASS - - - - - Del - D 77828470 77828479 1 12 314.232 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 1 7 2 33 10 33 10 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760518778 8 78257947 CT C 300 PASS - - - - - Del - D 78257947 78257953 1 10 270.389 - - 5 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 4 2 6 19 19 19 19 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760518971 8 78912592 ATC A 360 PASS - - - - - Del - D 78912592 78912607 2 16 324.467 - - 7 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 3 3 4 3 38 12 38 12 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760519189 8 79712712 GT G 300 PASS IL7 CCDS6224.1 r.? - - Del intronic D 79712712 79712718 1 6 270.389 - - 5 1 1 IL7|CCDS6224.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL7|CCDS6224.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 0 5 0 7 12 28 12 28 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760519208 8 79820725 G GA 360 PASS - - - - - Ins - I 79820725 79820732 1 12 320.854 - - 6 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 5 1 6 4 26 31 26 32 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760519225 8 79939028 GAA G 420 PASS - - - - - Del - D 79939028 79939038 2 18 378.544 - - 9 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 5 2 7 5 23 18 23 18 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760519360 8 80677424 TA T 300 PASS HEY1 CCDS43749.1 r.1125delU c.925delT p.*309fs*5 Del frameshift D 80677424 80677430 1 12 270.389 - - 5 1 1 HEY1|CCDS43749.1|r.1125delU|c.925delT|p.*309fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 HEY1|CCDS43749.1|r.1125delU|c.925delT|p.*309fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 5 3 20 23 20 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760519627 8 81331202 G GT 360 PASS - - - - - Ins - I 81331202 81331212 1 16 320.854 - - 9 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 3 3 4 3 31 25 31 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760519628 8 81338255 CA C 300 PASS - - - - - Del - D 81338255 81338265 1 12 267.981 - - 9 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 2 3 3 3 32 22 32 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760519949 8 82690654 T TTC 300 PASS - - - - - Ins - I 82690654 82690656 2 10 251.725 - - 0 1 - - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 4 1 5 16 31 16 31 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760519978 8 82770017 G GT 420 PASS - - - - - Ins - I 82770017 82770026 1 20 374.33 - - 8 1 1 - - ./. 0 0 0 0 8 15 9 15 0 0 ./. 4 3 4 3 28 26 29 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520013 8 82932367 TA T 420 PASS - - - - - Del - D 82932367 82932375 1 20 377.942 - - 7 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 4 5 6 25 19 25 19 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520034 8 83100270 CA C 420 PASS - - - - - Del - D 83100270 83100278 1 18 378.544 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 2 5 3 27 16 27 16 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520048 8 83286377 AG A 420 PASS - - - - - Del - D 83286377 83286383 1 18 378.544 - - 5 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 2 6 4 24 28 24 28 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520086 8 83534926 CA C 300 PASS - - - - - Del - D 83534926 83534932 1 6 270.389 - - 5 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 0 5 0 5 0 23 0 23 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520353 8 84520609 T TA 600 PASS - - - - - Ins - I 84520609 84520617 1 35 532.951 - - 7 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 6 4 7 5 27 13 27 13 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520453 8 84789337 C CT 315 PASS - - - - - Ins - I 84789337 84789344 1 14 374.33 - - 6 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 1 6 2 6 22 31 22 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520511 8 84965276 GA G 360 PASS - - - - - Del - D 84965276 84965286 1 16 324.467 - - 9 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 3 3 3 4 28 19 28 19 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520577 8 85212016 G GT 420 PASS - - - - - Ins - I 85212016 85212023 1 20 373.728 - - 6 1 1 - - ./. 0 0 0 0 22 14 23 14 0 0 ./. 4 3 4 3 21 30 21 30 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520615 8 85384925 GA G 300 PASS - - - - - Del - D 85384925 85384935 1 12 269.185 - - 9 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 2 5 3 34 32 34 32 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520654 8 85503101 AT A 360 PASS - - - - - Del - D 85503101 85503110 1 7 324.467 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 0 6 1 6 2 24 2 24 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520671 8 85704142 TC T 300 PASS RALYL ENST00000399361 r.? - - Del intronic D 85704142 85704150 1 10 267.379 - - 7 1 1 RALYL|ENST00000399361|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RALYL|ENST00000399361|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 4 10 4 0 0 ./. 1 4 1 4 20 32 20 32 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520676 8 85727854 AT A 300 PASS RALYL ENST00000399361 r.? - - Del intronic D 85727854 85727862 1 6 270.389 - - 7 1 1 RALYL|ENST00000399361|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RALYL|ENST00000399361|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 3 12 3 0 0 ./. 5 0 5 0 21 0 21 0 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520733 8 86032546 TG T 360 PASS LRRCC1 CCDS43750.1 r.? - - Del intronic D 86032546 86032554 1 12 324.467 - - 7 1 1 LRRCC1|CCDS43750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRCC1|CCDS43750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 22 13 22 0 0 ./. 1 5 2 6 19 25 19 25 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520808 8 86306289 T TA 420 PASS - - - - - Ins - I 86306289 86306296 1 18 374.33 - - 6 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 5 2 8 2 30 23 30 23 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520814 8 86330280 CT C 360 PASS - - - - - Del - D 86330280 86330286 1 15 323.865 - - 5 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 4 4 4 18 27 18 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520887 8 86935022 TA T 300 PASS - - - - - Del - D 86935022 86935028 1 10 270.389 - - 5 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 1 5 2 31 13 31 13 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520948 8 87152212 C CA 540 PASS ATP6V0D2 CCDS6241.1 r.? - - Ins intronic I 87152212 87152221 1 28 480.68 - - 8 1 1 ATP6V0D2|CCDS6241.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP6V0D2|CCDS6241.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 6 3 6 4 34 32 34 33 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520967 8 87257505 G GA 300 PASS - - - - - Ins - I 87257505 87257513 1 10 267.379 - - 7 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 1 4 1 4 5 10 5 10 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760520978 8 87303796 GA G 300 PASS - - - - - Del - D 87303796 87303804 1 12 270.389 - - 7 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 2 3 3 26 15 26 15 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760521040 8 87494633 CA C 420 PASS CPNE3 CCDS6243.1 r.? - - Del upstream D 87494633 87494642 1 20 369.514 - - 8 1 1 CPNE3|CCDS6243.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 FAM82B|CCDS34918.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 3 4 3 4 21 34 21 34 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760521113 8 87761359 AT A 480 PASS - - - - - Del - D 87761359 87761369 1 24 431.418 - - 9 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 3 5 5 5 13 14 13 14 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760521137 8 87829177 AT A 300 PASS - - - - - Del - D 87829177 87829185 1 10 269.787 - - 7 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 1 4 2 5 22 26 22 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760521250 8 88317391 CA C 420 PASS CNBD1 ENST00000319712 r.? - - Del intronic D 88317391 88317399 1 20 378.544 - - 7 1 1 CNBD1|ENST00000319712|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNBD1|ENST00000319712|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 4 4 5 20 22 20 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760521318 8 88585950 TA T 540 PASS - - - - - Del - D 88585950 88585958 1 18 486.7 - - 7 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 8 1 12 1 23 15 23 15 12 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760521483 8 89188231 G GT 480 PASS MMP16 CCDS6246.1 r.? - - Ins intronic I 89188231 89188238 1 9 427.806 - - 6 1 1 MMP16|CCDS6246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MMP16|CCDS6246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 16 14 0 0 ./. 8 0 9 1 31 20 31 20 9 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760521627 8 89556659 C CA 300 PASS - - - - - Ins - I 89556659 89556667 1 10 267.379 - - 7 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 1 5 4 29 11 29 11 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760521850 8 90363562 AT A 420 PASS - - - - - Del - D 90363562 90363569 1 20 378.544 - - 6 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 4 4 6 18 24 18 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522040 8 91225477 AT A 300 PASS - - - - - Del - D 91225477 91225487 1 10 270.389 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 1 6 1 31 16 31 16 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522152 8 91685216 GA G 300 PASS - - - - - Del - D 91685216 91685226 1 12 270.389 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 4 2 27 10 27 10 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522187 8 91994991 AT A 300 PASS - - - - - Del - D 91994991 91995001 1 6 270.389 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 0 5 0 5 8 19 8 19 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522423 8 93068993 CT C 360 PASS RUNX1T1 CCDS47891.1 r.? - - Del intronic D 93068993 93069002 1 15 319.048 - - 8 1 1 RUNX1T1|CCDS47891.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RUNX1T1|CCDS47891.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 4 3 5 21 22 21 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522500 8 93389643 TA T 300 PASS - - - - - Del - D 93389643 93389651 1 10 270.389 - - 7 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 1 5 1 24 19 24 19 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522555 8 93619589 CT C 300 PASS - - - - - Del - D 93619589 93619598 1 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 3 4 22 17 22 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522588 8 93813403 GGA G 300 PASS - - - - - Del - D 93813403 93813420 2 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 2 10 2 24 13 24 13 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522630 8 94016018 CA C 600 PASS - - - - - Del - D 94016018 94016027 1 32 540.778 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 7 6 10 29 45 29 45 6 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522668 8 94154691 AT A 300 PASS - - - - - Del - D 94154691 94154701 1 6 269.185 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 0 5 1 6 16 19 16 19 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522687 8 94225511 T TA 420 PASS - - - - - Ins - I 94225511 94225520 1 18 374.33 - - 8 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 2 6 6 34 20 34 20 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522764 8 94532387 TG T 471 PASS AC011118.2 ENST00000501400 r.? - - Del intronic D 94532387 94532393 1 36 540.778 - - 5 1 1 AC011118.2|ENST00000501400|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC011118.2|ENST00000501400|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 6 17 6 0 0 ./. 5 5 5 5 27 40 27 40 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522765 8 94539382 CA C 420 PASS AC011118.2 ENST00000501400 r.? - - Del intronic D 94539382 94539391 1 20 377.34 - - 8 1 1 AC011118.2|ENST00000501400|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC011118.2|ENST00000501400|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 4 3 6 3 36 23 36 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522852 8 94855213 GT G 329 PASS - - - - - Del - D 94855213 94855222 1 16 324.467 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 3 5 4 35 19 35 19 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760522903 8 94984020 G GT 420 PASS - - - - - Ins - I 94984020 94984030 1 18 373.126 - - 9 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 2 6 4 30 17 30 17 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760523323 8 95930318 AT A 540 PASS C8orf38 ENST00000396113 r.? - - Del intronic D 95930318 95930327 1 30 486.7 - - 8 1 1 C8orf38|ENST00000396113|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C8orf38|ENST00000396113|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 4 6 6 28 30 28 30 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760523475 8 96273843 GT G 420 PASS C8orf37 CCDS6268.1 r.? - - Del intronic D 96273843 96273853 1 20 378.544 - - 9 1 1 C8orf37|CCDS6268.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C8orf37|CCDS6268.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 3 5 5 31 34 31 34 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760523498 8 96369309 GT G 300 PASS - - - - - Del - D 96369309 96369319 1 6 270.389 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 0 7 1 23 23 23 23 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760523600 8 96663266 AT A 389 PASS - - - - - Del - D 96663266 96663275 1 18 377.942 - - 8 1 1 - - ./. 0 0 0 0 14 4 14 4 0 0 ./. 2 5 2 5 26 17 26 17 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760523669 8 96848654 A AT 389 PASS - - - - - Ins - I 96848654 96848656 1 20 374.33 - - 1 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 3 6 5 29 35 29 35 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760523766 8 97215092 GT G 300 PASS - - - - - Del - D 97215092 97215101 1 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 4 3 18 28 18 28 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760523776 8 97249025 CT C 300 PASS UQCRB CCDS6269.1 r.? - - Del upstream D 97249025 97249034 1 12 270.389 - - 8 1 1 UQCRB|CCDS6269.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 UQCRB|CCDS6269.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 20 7 20 7 0 0 ./. 3 2 5 6 20 32 20 32 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760523785 8 97279063 AT A 780 PASS PTDSS1 CCDS6271.1 r.? - - Del intronic D 97279063 97279070 1 44 702.409 - - 6 1 1 PTDSS1|CCDS6271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTDSS1|CCDS6271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 10 6 12 18 32 18 32 6 12 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760523799 8 97342740 TA T 300 PASS PTDSS1 CCDS6271.1 r.? - - Del intronic D 97342740 97342748 1 12 270.389 - - 7 1 1 PTDSS1|CCDS6271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTDSS1|CCDS6271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 4 5 28 34 28 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760523900 8 97630204 TA T 420 PASS - - - - - Del - D 97630204 97630214 1 18 378.544 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 5 3 6 26 25 26 25 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760524019 8 98122879 C CT 300 PASS ENSG00000104324 CCDS6273.1 r.? - - Ins intronic I 98122879 98122887 1 10 267.379 - - 7 1 1 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 4 1 6 2 28 34 28 34 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760524108 8 98478296 TA T 360 PASS - - - - - Del - D 98478296 98478305 1 15 324.467 - - 8 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 2 4 2 5 11 22 11 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760524122 8 98556489 G GA 300 PASS - - - - - Ins - I 98556489 98556498 1 12 267.379 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 2 3 30 30 30 30 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760524138 8 98592635 C CT 420 PASS - - - - - Ins - I 98592635 98592644 1 20 373.728 - - 8 1 1 - - ./. 0 0 0 0 16 11 17 11 0 0 ./. 4 3 7 4 34 24 35 24 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760524253 8 98853564 CT C 360 PASS LAPTM4B CCDS6275.1 r.? - - Del intronic D 98853564 98853573 1 15 324.467 - - 8 1 1 LAPTM4B|CCDS6275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LAPTM4B|CCDS6275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 7 18 7 0 0 ./. 4 2 7 2 24 20 24 20 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760524477 8 99367753 T TG 300 PASS - - - - - Ins - I 99367753 99367759 1 6 267.379 - - 5 1 1 - - ./. 0 0 0 0 10 10 11 10 0 0 ./. 0 5 0 6 31 32 31 32 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760524488 8 99414203 AC A 300 PASS - - - - - Del - D 99414203 99414209 1 12 270.389 - - 5 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 2 4 8 22 8 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760524581 8 99780838 CA C 420 PASS ENSG00000104375 CCDS47900.1 r.? - - Del intronic D 99780838 99780843 1 20 378.544 - - 4 1 1 ENSG00000104375|CCDS47900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000104375|CCDS47900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 3 5 4 17 19 17 19 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760524800 8 100792780 GT G 300 PASS VPS13B CCDS6280.1 r.? - - Del intronic D 100792780 100792788 1 12 270.389 - - 7 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 3 3 4 29 18 29 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760525034 8 101632181 CT C 360 PASS SNX31 CCDS6288.1 r.? - - Del intronic D 101632181 101632191 1 15 324.467 - - 9 1 1 SNX31|CCDS6288.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX31|CCDS6288.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 4 2 23 23 23 23 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760525207 8 102099916 AG A 360 PASS - - - - - Del - D 102099916 102099924 1 15 324.467 - - 7 1 1 - - ./. 0 0 0 0 19 2 19 2 0 0 ./. 2 4 3 5 26 22 26 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760525328 8 102506095 TC T 478 PASS GRHL2 CCDS34931.1 r.? - - Del intronic D 102506095 102506102 1 28 462.618 - - 6 1 1 GRHL2|CCDS34931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRHL2|CCDS34931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 6 3 7 24 28 24 28 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760525434 8 102773665 AT A 360 PASS NCALD CCDS6292.1 r.? - - Del intronic D 102773665 102773674 1 12 320.252 - - 8 1 1 NCALD|CCDS6292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NCALD|CCDS6292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 1 7 1 33 18 33 18 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760525552 8 103325624 GA G 300 PASS UBR5 CCDS34933.1 r.? - - Del intronic D 103325624 103325630 1 12 267.379 - - 5 1 1 UBR5|CCDS34933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBR5|CCDS34933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 3 4 18 25 18 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760525746 8 103801967 A AT 300 PASS - - - - - Ins - I 103801967 103801974 1 12 267.379 - - 6 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 3 2 7 20 7 20 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760525819 8 104019796 AAGAG A 298 PASS - - - - - Del - D 104019796 104019804 4 16 324.467 - - 3 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 3 5 3 23 24 23 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760525845 8 104087136 AT A 420 PASS ATP6V1C1 CCDS6296.1 r.? - - Del downstream D 104087136 104087146 1 18 378.544 - - 9 1 1 ATP6V1C1|CCDS6296.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ATP6V1C1|CCDS6296.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 19 4 19 4 0 0 ./. 2 5 3 5 22 34 22 34 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760525891 8 104172248 CT C 300 PASS BAALC CCDS6297.1 r.? - - Del intronic D 104172248 104172258 1 10 270.389 - - 9 1 1 BAALC|CCDS6297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAALC|CCDS6297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 1 4 2 4 19 25 19 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760525919 8 104245237 TA T 300 PASS BAALC CCDS6297.1 r.? - - Del downstream D 104245237 104245247 1 10 268.583 - - 9 1 1 BAALC|CCDS6297.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 BAALC|CCDS6297.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 4 2 6 25 22 25 22 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760525968 8 104391079 C CA 420 PASS CTHRC1 CCDS6299.1 r.? - - Ins intronic I 104391079 104391088 1 20 374.33 - - 8 1 1 CTHRC1|CCDS6299.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTHRC1|CCDS6299.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 4 5 4 24 22 24 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760526074 8 104811378 CA C 360 PASS RIMS2 ENST00000504942 r.? - - Del intronic D 104811378 104811385 1 15 324.467 - - 6 1 1 RIMS2|ENST00000504942|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMS2|ENST00000504942|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 4 2 4 4 23 21 23 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760526087 8 104866097 CT C 480 PASS RIMS2 ENST00000507740 r.? - - Del intronic D 104866097 104866104 1 25 431.418 - - 6 1 1 RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 4 6 5 26 24 26 24 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760526371 8 106002663 AT A 540 PASS - - - - - Del - D 106002663 106002671 1 30 486.7 - - 7 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 5 4 5 29 22 29 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760526398 8 106092604 CT C 420 PASS - - - - - Del - D 106092604 106092612 1 18 378.544 - - 7 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 2 5 2 5 2 31 2 31 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760526577 8 106722363 TA T 420 PASS ZFPM2 CCDS47908.1 r.? - - Del intronic D 106722363 106722372 1 14 378.544 - - 8 1 1 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 7 20 7 0 0 ./. 1 6 2 7 27 37 27 37 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760526610 8 106897024 CA C 600 PASS - - - - - Del - D 106897024 106897034 1 35 540.778 - - 9 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 4 7 4 22 13 22 13 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760526753 8 107513368 GT G 360 PASS OXR1 CCDS47909.1 r.? - - Del intronic D 107513368 107513376 1 16 324.467 - - 7 1 1 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 3 6 3 35 28 35 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760526793 8 107629656 CA C 360 PASS OXR1 CCDS47909.1 r.? - - Del intronic D 107629656 107629666 1 15 324.467 - - 9 1 1 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 2 5 3 25 28 25 28 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760526796 8 107644837 CT C 360 PASS OXR1 CCDS47909.1 r.? - - Del intronic D 107644837 107644847 1 15 319.65 - - 9 1 1 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 2 5 2 26 19 26 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760526813 8 107688816 AT A 420 PASS OXR1 CCDS47909.1 r.? - - Del intronic D 107688816 107688825 1 14 378.544 - - 8 1 1 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 1 6 1 7 2 27 2 27 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760526982 8 108310863 AT A 300 PASS ANGPT1 CCDS6306.1 r.? - - Del intronic D 108310863 108310873 1 12 270.389 - - 9 1 1 ANGPT1|CCDS6306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANGPT1|CCDS6306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 3 3 30 12 30 12 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527028 8 108430383 CT C 480 PASS ANGPT1 CCDS6306.1 r.? - - Del intronic D 108430383 108430391 1 24 432.622 - - 7 1 1 ANGPT1|CCDS6306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANGPT1|CCDS6306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 5 5 5 24 32 24 32 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527128 8 108876055 CT C 300 PASS - - - - - Del - D 108876055 108876064 1 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 2 4 3 29 32 29 32 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527176 8 109029253 CT C 300 PASS RSPO2 CCDS6307.1 r.? - - Del intronic D 109029253 109029263 1 12 270.389 - - 9 1 - RSPO2|CCDS6307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RSPO2|CCDS6307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 5 17 5 0 0 ./. 3 2 4 2 32 24 32 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527256 8 109395437 C CT 480 PASS - - - - - Ins - I 109395437 109395447 1 16 427.806 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 7 1 9 3 31 17 32 17 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527393 8 109914116 GA G 300 PASS - - - - - Del - D 109914116 109914126 1 12 270.389 - - 9 1 1 - - ./. 0 0 0 0 15 23 15 23 0 0 ./. 2 3 2 3 8 11 8 11 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527516 8 110297112 G GT 480 PASS NUDCD1 CCDS6312.1 r.? - - Ins intronic I 110297112 110297122 1 25 420.581 - - 9 1 1 NUDCD1|CCDS6312.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUDCD1|CCDS6312.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 4 7 8 31 32 31 33 7 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527586 8 110538999 CT C 480 PASS PKHD1L1 CCDS47911.1 r.? - - Del intronic D 110538999 110539009 1 24 432.622 - - 9 1 1 PKHD1L1|CCDS47911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKHD1L1|CCDS47911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 5 5 5 30 23 30 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527600 8 110578871 GT G 480 PASS EBAG9 CCDS6313.1 r.? - - Del downstream D 110578871 110578881 1 21 432.622 - - 9 1 - EBAG9|CCDS6313.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 EBAG9|CCDS6313.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 15 8 15 0 0 ./. 6 2 8 2 31 18 31 18 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527604 8 110595930 G GC 300 PASS ENSG00000147642 CCDS47912.1 r.? - - Ins intronic I 110595930 110595938 1 10 267.379 - - 7 1 1 ENSG00000147642|CCDS47912.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000147642|CCDS47912.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 18 0 0 ./. 4 1 4 1 23 32 23 32 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527786 8 111400878 CT C 360 PASS - - - - - Del - D 111400878 111400886 1 15 324.467 - - 7 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 4 2 5 10 19 10 19 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527857 8 111712067 CT C 480 PASS - - - - - Del - D 111712067 111712075 1 21 432.622 - - 7 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 2 6 3 6 21 29 21 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527892 8 111834889 CCT C 300 PASS - - - - - Del - D 111834889 111834901 2 12 270.389 - - 5 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 3 3 4 27 30 27 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760527951 8 112066408 C CA 300 PASS - - - - - Ins - I 112066408 112066417 1 10 267.379 - - 8 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 1 4 3 4 15 16 15 16 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528069 8 112483042 A AG 360 PASS - - - - - Ins - I 112483042 112483050 1 16 317.844 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 4 3 27 20 27 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528070 8 112488889 GA G 300 PASS - - - - - Del - D 112488889 112488897 1 10 270.389 - - 7 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 1 5 4 24 12 24 12 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528079 8 112539731 AT A 300 PASS - - - - - Del - D 112539731 112539739 1 12 270.389 - - 7 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 2 3 11 19 11 19 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528111 8 112701513 C CT 300 PASS - - - - - Ins - I 112701513 112701520 1 10 267.379 - - 6 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 1 4 2 25 12 25 12 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528180 8 112948104 CTAAA C 540 PASS - - - - - Del - D 112948104 112948111 4 28 486.7 - - 1 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 6 5 7 29 34 29 34 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528246 8 113209880 TA T 434 PASS - - - - - Del - D 113209880 113209886 1 30 486.7 - - 5 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 5 6 9 32 29 32 29 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528269 8 113267910 A AT 360 PASS CSMD3 CCDS6315.1 r.? - - Ins intronic I 113267910 113267916 1 12 320.854 - - 5 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 11 22 11 0 0 ./. 5 1 6 1 30 18 31 18 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528326 8 113467267 A AG 360 PASS CSMD3 CCDS6315.1 r.? - - Ins intronic I 113467267 113467268 1 16 320.252 - - 0 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 3 6 3 31 23 31 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528344 8 113542365 G GA 420 PASS CSMD3 CCDS6315.1 r.? - - Ins intronic I 113542365 113542372 1 20 374.33 - - 6 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 22 11 22 0 0 ./. 4 3 5 5 24 13 24 13 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528391 8 113699904 TTA T 420 PASS CSMD3 CCDS6315.1 r.? - - Del intronic D 113699904 113699908 2 8 378.544 - - 1 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 7 0 9 0 25 0 25 0 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528427 8 113841278 G GA 300 PASS CSMD3 CCDS6315.1 r.? - - Ins intronic I 113841278 113841288 1 12 262.562 - - 9 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 3 2 4 2 32 23 32 23 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528554 8 114512185 CA C 300 PASS - - - - - Del - D 114512185 114512195 1 6 264.97 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 0 5 1 5 19 23 19 23 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528687 8 115036135 GA G 300 PASS - - - - - Del - D 115036135 115036143 1 12 270.389 - - 7 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 2 5 5 20 27 20 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528702 8 115138104 TG T 478 PASS - - - - - Del - D 115138104 115138112 1 24 484.894 - - 7 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 7 2 7 25 31 25 31 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528710 8 115174392 GC G 300 PASS - - - - - Del - D 115174392 115174395 1 12 264.97 - - 2 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 2 3 3 4 13 20 13 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528717 8 115205908 GA G 540 PASS - - - - - Del - D 115205908 115205917 1 24 486.098 - - 8 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 2 10 2 34 18 34 18 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528837 8 115619662 AT A 300 PASS - - - - - Del - D 115619662 115619671 1 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 3 2 3 17 10 17 10 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760528963 8 116109845 GA G 300 PASS - - - - - Del - D 116109845 116109851 1 10 270.389 - - 5 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 4 2 4 6 26 6 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529045 8 116476676 ACTGT A 629 PASS TRPS1 CCDS6318.2 r.? - - Del intronic D 116476676 116476684 4 36 594.856 - - 1 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 8 3 9 3 25 22 25 22 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529055 8 116506867 AT A 360 PASS TRPS1 CCDS6318.2 r.? - - Del intronic D 116506867 116506875 1 16 324.467 - - 7 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 3 3 3 23 16 23 16 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529070 8 116554758 GA G 600 PASS TRPS1 CCDS6318.2 r.? - - Del intronic D 116554758 116554768 1 35 535.961 - - 9 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 6 4 7 6 27 18 27 18 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529139 8 116760472 CCTT C 329 PASS TRPS1 ENST00000422939 r.? - - Del intronic D 116760472 116760480 3 15 324.467 - - 2 1 1 TRPS1|ENST00000422939|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRPS1|ENST00000422939|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 4 3 4 18 11 18 11 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529176 8 116879235 TA T 360 PASS - - - - - Del - D 116879235 116879244 1 15 324.467 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 4 3 5 22 27 22 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529279 8 117287258 C CA 360 PASS AF130342.1 ENST00000505156 r.? - - Ins intronic I 117287258 117287267 1 7 320.854 - - 8 1 1 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 6 0 8 1 27 20 27 20 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529316 8 117380586 TA T 267 PASS - - - - - Del - D 117380586 117380588 1 15 324.467 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 2 5 27 34 27 34 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529326 8 117432134 G GT 480 PASS - - - - - Ins - I 117432134 117432141 1 21 427.806 - - 6 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 2 6 2 6 7 29 7 31 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529543 8 118316185 CCTT C 360 PASS - - - - - Del - D 118316185 118316193 3 15 324.467 - - 2 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 4 4 4 19 14 19 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529577 8 118402582 AT A 420 PASS - - - - - Del - D 118402582 118402592 1 20 378.544 - - 9 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 4 3 5 3 20 23 20 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529590 8 118479878 CCTT C 478 PASS - - - - - Del - D 118479878 118479886 3 28 485.496 - - 2 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 6 3 6 25 31 25 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529645 8 118697110 G GA 300 PASS - - - - - Ins - I 118697110 118697118 1 12 267.379 - - 7 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 2 3 4 3 23 19 23 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529737 8 118964067 GA G 300 PASS EXT1 CCDS6324.1 r.? - - Del intronic D 118964067 118964077 1 12 270.389 - - 9 1 1 EXT1|CCDS6324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXT1|CCDS6324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 4 7 17 32 17 32 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529783 8 119113604 CT C 300 PASS EXT1 CCDS6324.1 r.? - - Del intronic D 119113604 119113609 1 10 270.389 - - 4 1 1 EXT1|CCDS6324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXT1|CCDS6324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 1 7 2 24 34 24 34 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529784 8 119115392 CA C 420 PASS EXT1 CCDS6324.1 r.? - - Del intronic D 119115392 119115402 1 18 378.544 - - 9 1 1 EXT1|CCDS6324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXT1|CCDS6324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 2 7 2 23 19 23 19 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529789 8 119135303 AT A 329 PASS - - - - - Del - D 119135303 119135313 1 16 324.467 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 3 6 6 30 26 30 26 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760529840 8 119278172 CT C 300 PASS SAMD12 CCDS47913.1 r.? - - Del intronic D 119278172 119278177 1 10 270.389 - - 4 1 1 SAMD12|CCDS47913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SAMD12|CCDS47913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 1 5 1 27 17 27 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760530009 8 119876091 CT C 269 PASS - - - - - Del - D 119876091 119876100 1 12 267.981 - - 8 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 3 4 6 34 23 34 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760530127 8 120242583 AG A 360 PASS MAL2 ENST00000276681 r.? - - Del intronic D 120242583 120242588 1 15 324.467 - - 4 1 1 MAL2|ENST00000276681|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAL2|ENST00000276681|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 2 5 3 19 26 19 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760530445 8 121128462 G GA 360 PASS - - - - - Ins - I 121128462 121128471 1 16 320.854 - - 8 1 - - - ./. 0 0 0 0 14 23 14 23 0 0 ./. 3 3 7 4 26 23 27 23 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760530609 8 121703987 T TA 300 PASS SNTB1 CCDS6334.1 r.? - - Ins intronic I 121703987 121703997 1 6 267.379 - - 9 1 1 SNTB1|CCDS6334.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNTB1|CCDS6334.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 15 7 0 0 ./. 5 0 6 0 32 17 32 17 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760530656 8 121967650 CT C 420 PASS - - - - - Del - D 121967650 121967658 1 20 378.544 - - 7 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 3 4 6 27 30 27 30 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760530811 8 122512402 TA T 540 PASS - - - - - Del - D 122512402 122512412 1 24 486.7 - - 9 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 7 2 8 11 23 11 23 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531015 8 123006879 A AT 360 PASS - - - - - Ins - I 123006879 123006885 1 12 320.854 - - 5 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 1 5 2 6 19 33 19 33 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531161 8 123482909 TA T 480 PASS - - - - - Del - D 123482909 123482917 1 21 432.622 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 6 3 7 19 29 19 29 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531203 8 123678008 CT C 360 PASS - - - - - Del - D 123678008 123678018 1 16 324.467 - - 9 1 1 - - ./. 0 0 0 0 23 15 23 15 0 0 ./. 3 3 3 5 24 31 24 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531220 8 123737559 T TA 480 PASS - - - - - Ins - I 123737559 123737567 1 16 427.806 - - 7 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 7 1 7 1 40 31 40 32 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531245 8 123806500 CT C 360 PASS ZHX2 CCDS6336.1 r.? - - Del intronic D 123806500 123806509 1 15 324.467 - - 8 1 1 ZHX2|CCDS6336.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZHX2|CCDS6336.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 2 7 2 24 26 24 26 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531247 8 123809219 AG A 360 PASS ZHX2 CCDS6336.1 r.? - - Del intronic D 123809219 123809225 1 15 324.467 - - 5 1 1 ZHX2|CCDS6336.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZHX2|CCDS6336.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 4 3 4 25 27 25 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531292 8 123945896 TA T 480 PASS ZHX2 CCDS6336.1 r.? - - Del intronic D 123945896 123945906 1 25 432.622 - - 9 1 1 ZHX2|CCDS6336.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZHX2|CCDS6336.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 4 5 6 31 27 31 27 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531549 8 124612584 TC T 569 PASS - - - - - Del - D 124612584 124612586 1 35 540.176 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 6 4 8 5 39 29 39 29 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531579 8 124713733 CA C 269 PASS ANXA13 CCDS34939.1 r.? - - Del intronic D 124713733 124713742 1 10 269.787 - - 8 1 1 ANXA13|CCDS34939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANXA13|CCDS34939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 1 4 2 33 16 33 16 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531650 8 124973327 TA T 540 PASS FER1L6 CCDS43767.1 r.? - - Del intronic D 124973327 124973336 1 30 483.69 - - 8 1 1 FER1L6|CCDS43767.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FER1L6|CCDS43767.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 5 5 5 27 23 27 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531728 8 125257842 GA G 540 PASS ENSG00000214803 ENST00000399016 r.? - - Del intronic D 125257842 125257851 1 28 483.69 - - 8 1 1 ENSG00000214803|ENST00000399016|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000214803|ENST00000399016|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 6 3 8 3 36 18 36 18 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760531970 8 125855128 GA G 360 PASS ENSG00000235517 ENST00000422573 r.? - - Del intronic D 125855128 125855136 1 7 324.467 - - 7 1 1 ENSG00000235517|ENST00000422573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000235517|ENST00000422573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 6 0 6 1 36 21 36 21 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760532107 8 126337758 A AT 300 PASS NSMCE2 CCDS6356.1 r.? - - Ins intronic I 126337758 126337768 1 10 261.96 - - 9 1 1 NSMCE2|CCDS6356.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NSMCE2|CCDS6356.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 4 1 4 1 30 3 30 3 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760532304 8 127068550 C CGA 300 PASS - - - - - Ins - I 127068550 127068560 2 12 264.368 - - 4 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 3 3 4 18 20 19 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760532608 8 127934262 CT C 509 PASS - - - - - Del - D 127934262 127934272 1 28 486.7 - - 9 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 6 3 7 16 24 16 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760532629 8 127984206 AT A 300 PASS - - - - - Del - D 127984206 127984215 1 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 3 2 4 11 16 11 16 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760532695 8 128218108 GA G 360 PASS AC020688.1 ENST00000500112 r.? - - Del downstream D 128218108 128218116 1 12 324.467 - - 7 1 1 AC020688.1|ENST00000500112|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 AC020688.1|ENST00000500112|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 6 11 6 11 0 0 ./. 5 1 5 1 26 5 26 5 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760532834 8 128652080 AT A 420 PASS - - - - - Del - D 128652080 128652090 1 14 378.544 - - 9 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 1 7 1 32 25 32 25 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760532951 8 128966033 AT A 300 PASS PVT1 CCDS3617.1 r.? - - Del intronic D 128966033 128966042 1 10 270.389 - - 8 1 - PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 4 1 7 1 24 3 24 3 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760532973 8 129025420 AC A 300 PASS PVT1 CCDS3617.1 r.? - - Del intronic D 129025420 129025428 1 10 270.389 - - 7 1 1 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 4 2 4 19 27 19 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760532980 8 129036140 CA C 360 PASS PVT1 CCDS3617.1 r.? - - Del intronic D 129036140 129036149 1 15 324.467 - - 8 1 1 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 2 5 3 27 26 27 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760533008 8 129106445 GT G 360 PASS PVT1 CCDS3617.1 r.? - - Del intronic D 129106445 129106451 1 7 324.467 - - 5 1 1 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 0 6 0 7 6 34 6 34 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760533104 8 129479330 TA T 480 PASS - - - - - Del - D 129479330 129479339 1 16 432.622 - - 8 1 1 - - ./. 0 0 0 0 16 6 16 6 0 0 ./. 7 1 7 1 32 23 32 23 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760533207 8 129834563 CA C 300 PASS - - - - - Del - D 129834563 129834573 1 12 269.185 - - 9 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 3 2 5 4 29 31 29 31 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760533247 8 129962689 CT C 300 PASS - - - - - Del - D 129962689 129962698 1 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 3 3 35 30 35 30 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760533370 8 130445178 GA G 300 PASS AC013300.1 ENST00000446592 r.? - - Del intronic D 130445178 130445187 1 6 268.583 - - 8 1 1 AC013300.1|ENST00000446592|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC013300.1|ENST00000446592|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 0 5 0 5 24 24 24 24 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760533645 8 131356521 AT A 300 PASS ASAP1 CCDS6362.1 r.? - - Del intronic D 131356521 131356531 1 10 270.389 - - 9 1 1 ASAP1|CCDS6362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASAP1|CCDS6362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 1 5 3 23 20 23 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760533798 8 131815663 CA C 480 PASS ADCY8 CCDS6363.1 r.? - - Del intronic D 131815663 131815669 1 24 429.612 - - 5 1 1 ADCY8|CCDS6363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY8|CCDS6363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 5 4 6 23 35 23 35 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760534076 8 132782103 CCT C 420 PASS - - - - - Del - D 132782103 132782118 2 20 374.932 - - 7 1 - - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 3 5 3 27 21 27 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760534134 8 133107392 CT C 360 PASS OC90 CCDS47920.1 r.? - - Del intronic D 133107392 133107398 1 15 324.467 - - 5 1 1 OC90|CCDS47920.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OC90|CCDS47920.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 2 5 4 24 18 24 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760534167 8 133206827 TG T 540 PASS KCNQ3 CCDS34943.1 r.? - - Del intronic D 133206827 133206834 1 28 486.7 - - 6 1 1 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 6 3 8 27 30 27 30 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760534259 8 133551937 G GT 300 PASS - - - - - Ins - I 133551937 133551946 1 12 267.379 - - 8 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 3 2 5 3 36 13 37 13 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760534276 8 133582984 CTG C 300 PASS LRRC6 CCDS6365.1 r.? - - Del downstream D 133582984 133582992 2 12 270.389 - - 3 1 1 LRRC6|CCDS6365.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LRRC6|CCDS6365.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 5 11 5 0 0 ./. 2 3 2 5 23 33 23 33 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760534391 8 134065098 CTT C 540 PASS TG CCDS34944.1 r.? - - Del intronic D 134065098 134065102 2 30 486.098 - - 3 1 1 TG|CCDS34944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TG|CCDS34944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 4 5 4 30 26 30 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760534480 8 134391278 CAAG C 329 PASS - - - - - Del - D 134391278 134391290 3 12 324.467 - - 3 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 5 2 7 17 20 17 20 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760535047 8 136618911 TA T 300 PASS KHDRBS3 CCDS6374.1 r.? - - Del intronic D 136618911 136618920 1 12 269.787 - - 8 1 1 KHDRBS3|CCDS6374.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KHDRBS3|CCDS6374.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 3 4 4 21 19 21 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760535108 8 136842109 A AT 420 PASS - - - - - Ins - I 136842109 136842118 1 20 374.33 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 4 4 5 29 26 29 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760535117 8 136873875 G GT 360 PASS - - - - - Ins - I 136873875 136873885 1 15 319.65 - - 9 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 4 2 5 4 22 24 22 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760535120 8 136876541 TC T 300 PASS - - - - - Del - D 136876541 136876549 1 6 269.185 - - 7 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 0 6 0 24 13 24 13 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760535277 8 137437330 CT C 480 PASS - - - - - Del - D 137437330 137437340 1 21 432.622 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 6 3 7 17 24 17 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760535357 8 137744520 CT C 300 PASS - - - - - Del - D 137744520 137744529 1 10 270.389 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 1 4 1 5 20 28 20 28 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760535375 8 137788105 CT C 420 PASS - - - - - Del - D 137788105 137788114 1 18 378.544 - - 8 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 5 2 7 4 20 19 20 19 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760535538 8 138307077 GA G 360 PASS - - - - - Del - D 138307077 138307082 1 16 323.865 - - 4 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 3 3 3 4 14 23 14 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760535549 8 138330921 AT A 360 PASS - - - - - Del - D 138330921 138330931 1 15 324.467 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 4 3 6 12 25 12 25 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760535604 8 138453328 AT A 300 PASS - - - - - Del - D 138453328 138453338 1 10 269.185 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 1 4 4 27 18 27 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760535643 8 138586254 TGTAA T 300 PASS - - - - - Del - D 138586254 138586265 4 10 270.389 - - 2 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 1 4 2 5 17 25 17 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536084 8 139842772 TA T 540 PASS COL22A1 CCDS6376.1 r.? - - Del intronic D 139842772 139842781 1 30 486.098 - - 8 1 1 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 4 7 7 31 26 31 26 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536118 8 139928197 GA G 480 PASS COL22A1 CCDS6376.1 r.? - - Del upstream D 139928197 139928207 1 21 427.806 - - 9 1 1 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 2 7 3 31 20 31 20 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536159 8 140002663 CA C 360 PASS - - - - - Del - D 140002663 140002672 1 16 324.467 - - 8 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 3 5 4 30 23 30 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536312 8 140505799 TA T 300 PASS - - - - - Del - D 140505799 140505805 1 12 270.389 - - 5 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 3 4 17 22 17 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536444 8 140978044 TA T 360 PASS TRAPPC9 CCDS34946.1 r.? - - Del intronic D 140978044 140978053 1 15 324.467 - - 8 1 1 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 2 7 4 28 22 28 22 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536483 8 141100577 TA T 600 PASS TRAPPC9 CCDS34946.1 r.? - - Del intronic D 141100577 141100584 1 36 540.778 - - 6 1 1 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 5 7 5 35 24 35 24 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536495 8 141151510 AT A 540 PASS TRAPPC9 CCDS34946.1 r.? - - Del intronic D 141151510 141151518 1 30 486.7 - - 7 1 1 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 4 9 5 35 27 35 27 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536582 8 141442296 GA G 300 PASS TRAPPC9 CCDS34946.1 r.? - - Del intronic D 141442296 141442306 1 12 270.389 - - 9 1 1 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 2 3 4 3 25 26 25 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536639 8 141552537 AAAAT A 269 PASS EIF2C2 ENST00000220592 r.? - - Del intronic D 141552537 141552549 4 12 270.389 - - 2 1 1 EIF2C2|ENST00000220592|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF2C2|ENST00000220592|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 2 3 2 3 19 22 19 22 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536704 8 141709182 AT A 300 PASS PTK2 CCDS6381.1 r.? - - Del intronic D 141709182 141709192 1 12 266.174 - - 9 1 1 PTK2|CCDS6381.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTK2|CCDS6381.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 3 5 3 26 17 26 17 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536805 8 141981094 CA C 300 PASS PTK2 CCDS6381.1 r.? - - Del intronic D 141981094 141981102 1 10 270.389 - - 7 1 1 PTK2|CCDS6381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTK2|CCDS6381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 1 4 2 7 40 36 40 36 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536941 8 142453019 TA T 480 PASS ENSG00000184334 ENST00000355850 r.? - - Del downstream D 142453019 142453027 1 21 431.418 - - 7 1 1 ENSG00000184334|ENST00000355850|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000184334|ENST00000355850|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 6 3 7 14 34 14 34 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760536967 8 142497351 AC A 300 PASS - - - - - Del - D 142497351 142497357 1 6 270.389 - - 5 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 0 7 0 25 19 25 19 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537155 8 143373322 G GC 360 PASS TSNARE1 CCDS6384.1 r.? - - Ins intronic I 143373322 143373331 1 15 316.038 - - 8 1 1 TSNARE1|CCDS6384.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TSNARE1|CCDS6384.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 4 3 4 13 27 14 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537163 8 143437845 AG A 480 PASS TSNARE1 CCDS6384.1 r.? - - Del intronic D 143437845 143437848 1 21 432.622 - - 2 1 1 TSNARE1|CCDS6384.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TSNARE1|CCDS6384.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 2 6 2 31 25 31 25 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537423 8 144240076 AG A 480 PASS LY6H CCDS47926.1 r.? - - Del intronic D 144240076 144240084 1 21 430.214 - - 7 1 1 LY6H|CCDS47926.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LY6H|CCDS47926.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 6 3 8 22 26 22 26 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537502 8 144512623 TG T 509 PASS MAFA CCDS34955.1 r.? - - Del upstream D 144512623 144512632 1 28 475.863 - - 8 1 1 MAFA|CCDS34955.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 MAFA|CCDS34955.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 6 4 7 22 24 22 24 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537531 8 144591438 CAAT C 300 PASS ZC3H3 CCDS6402.1 r.? - - Del intronic D 144591438 144591446 3 12 268.583 - - 2 1 1 ZC3H3|CCDS6402.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZC3H3|CCDS6402.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 2 6 3 25 29 25 29 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537613 8 144825204 TG T 600 PASS ENSG00000203499 ENST00000435097 r.? - - Del intronic D 144825204 144825212 1 35 537.768 - - 7 1 1 ENSG00000203499|ENST00000435097|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000203499|ENST00000435097|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 6 4 9 5 32 26 32 26 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537671 8 145003562 TG T 300 PASS PLEC CCDS43772.1 r.? - - Del intronic D 145003562 145003571 1 10 270.389 - - 8 1 1 PLEC|CCDS43772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLEC|CCDS43772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 1 6 4 28 27 28 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537713 8 145146512 C CA 420 PASS CYC1 CCDS6415.1 r.? - - Ins upstream I 145146512 145146520 1 18 374.33 - - 7 1 1 CYC1|CCDS6415.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CYC1|CCDS6415.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 2 6 4 35 22 35 22 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537791 8 145524281 G GA 449 PASS HSF1 CCDS6419.1 r.? - - Ins intronic I 145524281 145524288 1 21 427.806 - - 6 1 1 HSF1|CCDS6419.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HSF1|CCDS6419.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 6 2 6 4 29 37 29 37 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537816 8 145621923 GCTT G 269 PASS CPSF1 CCDS34966.1 r.2788_2790delAAG c.2713_2715delAAG p.K905delK Del inframe D 145621923 145621932 3 10 269.787 - - 2 1 1 CPSF1|CCDS34966.1|r.2788_2790delAAG|c.2713_2715delAAG|p.K905delK|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 CPSF1|CCDS34966.1|r.2788_2790delAAG|c.2713_2715delAAG|p.K905delK|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 4 11 4 11 0 0 ./. 4 1 4 1 15 22 15 22 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537819 8 145624023 GTCC G 267 PASS CPSF1 CCDS34966.1 r.1716_1718delGGA c.1641_1643delGGA p.E547delE Del inframe D 145624023 145624031 3 16 324.467 - - 2 1 1 CPSF1|CCDS34966.1|r.1716_1718delGGA|c.1641_1643delGGA|p.E547delE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 CPSF1|CCDS34966.1|r.1716_1718delGGA|c.1641_1643delGGA|p.E547delE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 7 4 7 4 0 0 ./. 3 3 3 3 23 26 23 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537822 8 145627691 GT G 360 PASS CPSF1 CCDS34966.1 r.? - - Del intronic D 145627691 145627701 1 15 324.467 - - 9 1 - CPSF1|CCDS34966.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPSF1|CCDS34966.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 4 5 6 22 33 22 33 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537903 8 146009022 TA T 300 PASS ZNF34 CCDS47945.1 r.? - - Del intronic D 146009022 146009030 1 12 270.389 - - 7 1 1 ZNF34|CCDS47945.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF34|CCDS47945.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 3 2 3 26 23 26 23 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760537980 8 146239598 A AT 447 PASS - - - - - Ins - I 146239598 146239605 1 30 587.631 - - 6 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 9 2 10 3 39 20 39 20 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538084 9 277269 AG A 360 PASS DOCK8 CCDS6440.1 r.? - - Del intronic D 277269 277271 1 16 321.224 - - 1 1 1 DOCK8|CCDS6440.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DOCK8|CCDS6440.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 3 4 4 22 23 22 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538112 9 335081 CA C 360 PASS DOCK8 CCDS6440.1 r.? - - Del intronic D 335081 335091 1 12 324.836 - - 9 1 1 DOCK8|CCDS6440.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK8|CCDS6440.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 5 2 5 20 35 20 35 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538126 9 364283 GAAC G 327 PASS DOCK8 CCDS6440.1 r.? - - Del intronic D 364283 364290 3 20 378.975 - - 2 1 1 DOCK8|CCDS6440.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK8|CCDS6440.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 4 5 4 26 19 26 19 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538289 9 789310 CA C 269 PASS - - - - - Del - D 789310 789320 1 12 270.697 - - 9 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 3 2 6 2 31 18 31 18 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538303 9 806678 CA C 358 PASS - - - - - Del - D 806678 806688 1 18 378.373 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 2 8 3 30 22 30 22 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538376 9 902345 TC T 329 PASS DMRT1 CCDS6442.1 r.? - - Del intronic D 902345 902347 1 16 318.213 - - 1 1 1 DMRT1|CCDS6442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMRT1|CCDS6442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 3 3 4 28 21 28 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538438 9 1043410 A AT 600 PASS AL358976.1 ENST00000500181 r.? - - Ins upstream I 1043410 1043417 1 35 534.169 - - 6 1 1 AL358976.1|ENST00000500181|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 AL358976.1|ENST00000500181|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 6 4 6 23 27 23 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538462 9 1102691 AC A 300 PASS - - - - - Del - D 1102691 1102699 1 12 270.697 - - 7 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 2 3 2 4 31 26 31 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538526 9 1283915 CA C 360 PASS - - - - - Del - D 1283915 1283917 1 15 324.836 - - 1 1 - - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 4 4 4 22 26 22 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538539 9 1322532 AT A 300 PASS - - - - - Del - D 1322532 1322542 1 10 270.697 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 4 1 34 17 34 17 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538550 9 1400749 GT G 480 PASS - - - - - Del - D 1400749 1400759 1 24 433.115 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 3 6 3 24 25 24 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538597 9 1593143 CT C 300 PASS - - - - - Del - D 1593143 1593153 1 12 270.697 - - 9 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 2 3 3 3 21 33 21 33 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538658 9 1834458 CA C 397 PASS - - - - - Del - D 1834458 1834466 1 20 378.975 - - 7 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 4 6 4 19 35 19 35 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538748 9 2220967 CT C 540 PASS - - - - - Del - D 2220967 2220969 1 30 487.254 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 5 4 6 16 28 16 28 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538978 9 2890118 TA T 300 PASS - - - - - Del - D 2890118 2890127 1 12 270.697 - - 8 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 2 3 2 13 15 13 15 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760538982 9 2906202 CT C 300 PASS - - - - - Del - D 2906202 2906212 1 12 270.697 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 2 3 17 23 17 23 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760539025 9 3107492 T TA 350 PASS - - - - - Ins - I 3107492 3107498 1 20 374.761 - - 5 1 1 - - ./. 0 0 0 0 12 14 13 14 0 0 ./. 4 3 5 3 27 28 28 28 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760539085 9 3301638 TA T 480 PASS RFX3 CCDS6449.1 r.? - - Del intronic D 3301638 3301646 1 24 433.115 - - 7 1 1 RFX3|CCDS6449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RFX3|CCDS6449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 3 7 5 19 21 19 21 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760539262 9 3938531 TA T 300 PASS GLIS3 CCDS6451.1 r.? - - Del intronic D 3938531 3938541 1 12 270.697 - - 9 1 1 GLIS3|CCDS6451.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLIS3|CCDS6451.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 2 4 2 24 21 24 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760539351 9 4235716 GA G 480 PASS GLIS3 CCDS43784.1 r.? - - Del intronic D 4235716 4235726 1 16 432.513 - - 9 1 1 GLIS3|CCDS43784.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLIS3|CCDS43784.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 7 1 8 3 31 31 31 31 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760539372 9 4278105 CA C 420 PASS GLIS3 CCDS43784.1 r.? - - Del intronic D 4278105 4278114 1 18 378.373 - - 8 1 1 GLIS3|CCDS43784.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLIS3|CCDS43784.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 2 7 3 24 12 24 12 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760539447 9 4482793 GA G 480 PASS - - - - - Del - D 4482793 4482801 1 25 433.115 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 4 5 5 30 25 30 25 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760539693 9 5322526 C CT 274 PASS - - - - - Ins - I 5322526 5322535 1 16 321.224 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 3 4 3 26 26 26 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760539716 9 5439304 CT C 398 PASS C9orf46 CCDS6463.1 r.? - - Del upstream D 5439304 5439313 1 18 376.567 - - 8 1 1 C9orf46|CCDS6463.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C9orf46|CCDS6463.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 4 12 4 12 0 0 ./. 2 5 3 6 20 30 20 30 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760539856 9 5968043 CT C 420 PASS KIAA2026 CCDS47950.1 r.2403delA c.2187delA p.A730fs*26 Del frameshift D 5968043 5968053 1 20 377.771 - - 9 1 1 KIAA2026|CCDS47950.1|r.2403delA|c.2187delA|p.A730fs*26|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 KIAA2026|CCDS47950.1|r.2403delA|c.2187delA|p.A730fs*26|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 4 3 4 24 23 24 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760539950 9 6347375 A AT 351 PASS - - - - - Ins - I 6347375 6347383 1 8 374.159 - - 7 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 7 0 8 0 29 0 29 0 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760540153 9 6758406 CG C 300 PASS KDM4C CCDS6471.1 r.? - - Del intronic D 6758406 6758412 1 12 270.697 - - 5 1 1 KDM4C|CCDS6471.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KDM4C|CCDS6471.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 3 5 4 35 23 35 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760540293 9 7090502 TA T 360 PASS KDM4C CCDS6471.1 r.? - - Del intronic D 7090502 7090512 1 12 324.836 - - 9 1 1 KDM4C|CCDS6471.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KDM4C|CCDS6471.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 5 1 6 2 36 22 36 22 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760540466 9 7749723 GA G 420 PASS - - - - - Del - D 7749723 7749733 1 20 378.975 - - 9 1 1 - - ./. 0 0 0 0 19 24 19 24 0 0 ./. 3 4 3 4 25 23 25 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760540490 9 7848107 GA G 360 PASS - - - - - Del - D 7848107 7848116 1 16 324.234 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 5 4 26 22 26 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760540609 9 8266164 G GT 360 PASS - - - - - Ins - I 8266164 8266167 1 16 321.224 - - 2 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 3 3 6 28 28 28 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760540622 9 8308865 GGA G 540 PASS - - - - - Del - D 8308865 8308877 2 30 486.05 - - 5 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 5 6 6 27 17 27 17 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760540654 9 8428664 CA C 600 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 8428664 8428673 1 35 538.985 - - 8 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 6 4 6 20 24 20 24 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760540668 9 8500189 CA C 360 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 8500189 8500195 1 12 324.836 - - 5 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 5 3 7 11 30 11 30 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760540793 9 8899131 T TA 420 PASS PTPRD CCDS43786.1 r.? - - Ins intronic I 8899131 8899140 1 20 371.149 - - 8 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 3 4 3 24 16 24 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760540824 9 8954309 TA T 540 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 8954309 8954317 1 30 486.05 - - 7 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 4 5 5 35 35 35 35 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760541054 9 9773848 GA G 360 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 9773848 9773858 1 16 324.836 - - 9 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 3 3 5 27 30 27 30 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760541087 9 9871829 TG T 480 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 9871829 9871836 1 25 431.911 - - 6 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 4 5 4 30 29 30 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760541219 9 10317614 G GT 300 PASS PTPRD CCDS43786.1 r.? - - Ins intronic I 10317614 10317620 1 10 267.084 - - 5 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 1 4 1 5 2 15 2 15 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760541283 9 10571262 G GA 300 PASS PTPRD CCDS43786.1 r.? - - Ins intronic I 10571262 10571268 1 12 267.686 - - 5 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 16 7 17 0 0 ./. 2 3 2 3 13 8 13 8 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760541586 9 11653061 CT C 360 PASS - - - - - Del - D 11653061 11653071 1 15 324.836 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 4 2 5 16 33 16 33 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760541634 9 11810102 GT G 420 PASS - - - - - Del - D 11810102 11810112 1 18 378.975 - - 9 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 2 5 4 28 16 28 16 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760541674 9 11884799 C CA 420 PASS - - - - - Ins - I 11884799 11884807 1 18 374.761 - - 7 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 5 2 7 3 27 15 28 17 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760541872 9 12554790 GA G 420 PASS - - - - - Del - D 12554790 12554799 1 20 378.975 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 4 3 5 22 14 22 14 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760541934 9 12702410 TACAA T 269 PASS TYRP1 CCDS34990.1 r.1183_1186delACAA c.1054_1057delACAA p.N353fs*31 Del frameshift D 12702410 12702418 4 12 270.697 - - 1 1 1 TYRP1|CCDS34990.1|r.1183_1186delACAA|c.1054_1057delACAA|p.N353fs*31|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 TYRP1|CCDS34990.1|r.1183_1186delACAA|c.1054_1057delACAA|p.N353fs*31|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 4 13 4 13 0 0 ./. 2 3 3 5 10 20 10 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760541955 9 12733576 G GT 600 PASS - - - - - Ins - I 12733576 12733585 1 27 535.373 - - 8 1 1 - - ./. 0 0 0 0 20 11 21 12 0 0 ./. 2 8 2 11 17 42 17 42 2 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760542128 9 13282857 AT A 300 PASS - - - - - Del - D 13282857 13282864 1 10 270.697 - - 6 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 1 4 1 4 12 28 12 28 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760542181 9 13571641 TG T 360 PASS - - - - - Del - D 13571641 13571648 1 15 323.632 - - 6 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 4 2 6 22 26 22 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760542321 9 14043590 TA T 300 PASS - - - - - Del - D 14043590 14043595 1 6 270.697 - - 4 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 0 5 0 6 8 26 8 26 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760542361 9 14209505 AG A 300 PASS NFIB CCDS6474.1 r.? - - Del intronic D 14209505 14209511 1 10 270.697 - - 5 1 1 NFIB|CCDS6474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFIB|CCDS6474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 1 5 4 24 23 24 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760542387 9 14303546 TA T 360 PASS NFIB CCDS6474.1 r.? - - Del intronic D 14303546 14303554 1 12 324.836 - - 7 1 1 NFIB|CCDS6474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFIB|CCDS6474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 1 9 2 35 18 35 18 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760542398 9 14334659 A AT 360 PASS - - - - - Ins - I 14334659 14334668 1 12 321.224 - - 8 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 5 1 5 2 26 24 26 24 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760542426 9 14396546 GA G 720 PASS - - - - - Del - D 14396546 14396556 1 45 649.07 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 8 4 11 6 47 18 47 18 11 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760542583 9 14955920 AT A 300 PASS - - - - - Del - D 14955920 14955928 1 12 270.697 - - 7 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 2 5 4 22 20 22 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760542585 9 14965286 T TG 360 PASS - - - - - Ins - I 14965286 14965294 1 15 321.224 - - 7 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 4 2 5 25 22 25 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760542662 9 15201755 C CG 300 PASS TTC39B CCDS6477.1 r.? - - Ins intronic I 15201755 15201762 1 10 266.482 - - 6 1 1 TTC39B|CCDS6477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC39B|CCDS6477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 1 4 4 4 35 30 36 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760542858 9 15717154 TG T 300 PASS C9orf93 CCDS6481.1 r.? - - Del intronic D 15717154 15717161 1 12 268.289 - - 6 1 1 C9orf93|CCDS6481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9orf93|CCDS6481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 4 3 21 27 21 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543064 9 16396998 CA C 629 PASS - - - - - Del - D 16396998 16397008 1 40 593.727 - - 9 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 4 7 5 9 18 28 18 28 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543111 9 16578422 G GT 420 PASS BNC2 CCDS6482.2 r.? - - Ins intronic I 16578422 16578431 1 20 374.761 - - 8 1 1 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 3 4 3 18 12 19 12 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543152 9 16687365 CA C 300 PASS BNC2 CCDS6482.2 r.? - - Del intronic D 16687365 16687372 1 10 270.697 - - 6 1 1 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 1 5 1 30 11 30 11 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543228 9 16790006 AT A 300 PASS BNC2 CCDS6482.2 r.? - - Del intronic D 16790006 16790016 1 12 270.697 - - 9 1 1 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 3 2 20 20 20 20 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543272 9 16867808 C CA 480 PASS BNC2 CCDS6482.2 r.? - - Ins intronic I 16867808 16867816 1 21 428.298 - - 7 1 1 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 10 17 0 0 ./. 6 2 6 3 27 27 27 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543390 9 17268450 TG T 300 PASS CNTLN CCDS43789.1 r.? - - Del intronic D 17268450 17268457 1 10 270.697 - - 6 1 1 CNTLN|CCDS43789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTLN|CCDS43789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 1 4 4 17 30 17 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543615 9 18184422 A AT 480 PASS - - - - - Ins - I 18184422 18184432 1 25 428.298 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 4 6 6 34 27 35 27 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543619 9 18205476 GA G 360 PASS - - - - - Del - D 18205476 18205486 1 16 324.836 - - 9 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 3 3 3 26 8 26 8 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543728 9 18659391 TA T 300 PASS ADAMTSL1 CCDS47954.1 r.? - - Del intronic D 18659391 18659398 1 10 270.697 - - 6 1 1 ADAMTSL1|CCDS47954.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTSL1|CCDS47954.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 4 2 5 19 27 19 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543866 9 19091657 TA T 360 PASS HAUS6 CCDS6489.1 r.? - - Del intronic D 19091657 19091667 1 16 311.591 - - 9 1 1 HAUS6|CCDS6489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HAUS6|CCDS6489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 21 10 21 0 0 ./. 3 3 5 3 19 14 19 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543935 9 19189125 CCT C 360 PASS - - - - - Del - D 19189125 19189134 2 15 324.836 - - 4 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 2 4 4 27 23 27 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760543963 9 19227824 C CA 269 PASS - - - - - Ins - I 19227824 19227833 1 6 256.849 - - 8 1 - - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 0 5 0 10 0 28 0 28 0 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760544053 9 19494633 GT G 300 PASS - - - - - Del - D 19494633 19494642 1 10 270.697 - - 8 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 1 4 3 4 29 35 29 35 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760544147 9 19814806 TA T 540 PASS - - - - - Del - D 19814806 19814813 1 28 485.448 - - 6 1 1 - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 3 6 3 9 25 35 25 35 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760544397 9 20814253 AT A 300 PASS KIAA1797 CCDS34993.1 r.? - - Del intronic D 20814253 20814261 1 10 270.697 - - 7 1 1 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 1 4 3 5 27 26 27 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760544441 9 20993167 C CAT 600 PASS KIAA1797 CCDS34993.1 r.? - - Ins intronic I 20993167 20993177 2 35 529.352 - - 4 1 1 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 6 5 6 35 26 35 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760544452 9 21029652 TATC T 540 PASS PTPLAD2 CCDS43791.1 r.? - - Del intronic D 21029652 21029658 3 28 487.254 - - 1 1 1 PTPLAD2|CCDS43791.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPLAD2|CCDS43791.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 6 5 6 26 28 26 28 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760544512 9 21495333 CA C 677 PASS - - - - - Del - D 21495333 21495343 1 48 638.835 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 7 5 8 9 33 27 33 27 8 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760544676 9 22150696 CA C 337 PASS - - - - - Del - D 22150696 22150705 1 16 324.836 - - 8 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 3 3 3 4 23 25 23 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760544744 9 22414164 CA C 420 PASS - - - - - Del - D 22414164 22414171 1 20 378.975 - - 6 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 3 7 3 21 22 21 22 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760544782 9 22604507 AG A 300 PASS - - - - - Del - D 22604507 22604512 1 12 270.697 - - 4 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 2 3 3 4 27 27 27 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760544846 9 22799997 TA T 660 PASS - - - - - Del - D 22799997 22800006 1 36 595.533 - - 8 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 8 3 10 3 39 11 39 11 10 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760545190 9 24305796 GA G 420 PASS - - - - - Del - D 24305796 24305806 1 14 378.975 - - 9 1 1 - - ./. 0 0 0 0 21 6 21 6 0 0 ./. 6 1 8 1 24 4 24 4 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760545192 9 24309471 CT C 314 PASS - - - - - Del - D 24309471 24309479 1 15 324.836 - - 7 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 2 5 4 36 26 36 26 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760545206 9 24428867 A AT 420 PASS - - - - - Ins - I 24428867 24428876 1 14 374.761 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 1 6 1 26 16 26 16 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760545234 9 24527213 GA G 600 PASS - - - - - Del - D 24527213 24527218 1 35 541.394 - - 4 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 6 4 7 9 33 9 33 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760545266 9 24617488 CA C 420 PASS - - - - - Del - D 24617488 24617497 1 18 378.975 - - 8 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 2 7 2 22 18 22 18 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760545482 9 25532934 GA G 420 PASS - - - - - Del - D 25532934 25532944 1 20 378.975 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 4 5 5 43 34 43 34 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760545693 9 26313695 C CA 420 PASS - - - - - Ins - I 26313695 26313704 1 20 373.557 - - 8 1 1 - - ./. 0 0 0 0 16 16 17 16 0 0 ./. 4 3 4 6 31 38 31 38 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760545748 9 26563615 G GCA 540 PASS - - - - - Ins - I 26563615 26563628 2 30 474.611 - - 6 1 - - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 5 5 5 19 32 19 32 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760545845 9 26820951 TA T 290 PASS - - - - - Del - D 26820951 26820961 1 12 270.697 - - 9 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 3 4 3 18 23 18 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760545896 9 26953184 GT G 540 PASS IFT74 CCDS43793.1 r.? - - Del intronic D 26953184 26953192 1 24 487.254 - - 7 1 1 IFT74|CCDS43793.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IFT74|CCDS43793.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 7 2 9 21 40 21 40 2 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760545985 9 27207749 CT C 300 PASS TEK CCDS6519.1 r.? - - Del intronic D 27207749 27207759 1 10 270.697 - - 9 1 1 TEK|CCDS6519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TEK|CCDS6519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 4 3 5 25 22 25 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760546024 9 27340600 C CT 509 PASS MOBKL2B CCDS6520.1 r.? - - Ins intronic I 27340600 27340610 1 28 464.376 - - 9 1 1 MOBKL2B|CCDS6520.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MOBKL2B|CCDS6520.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 7 3 7 0 0 ./. 3 6 5 8 35 26 35 26 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760546140 9 27781849 CT C 420 PASS - - - - - Del - D 27781849 27781859 1 20 378.975 - - 9 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 3 5 4 30 24 30 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760546286 9 28246629 AC A 360 PASS LINGO2 CCDS6524.1 r.? - - Del intronic D 28246629 28246633 1 16 324.836 - - 3 1 1 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 3 4 4 23 34 23 34 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760546368 9 28456069 AT A 420 PASS LINGO2 CCDS6524.1 r.? - - Del intronic D 28456069 28456076 1 18 378.975 - - 6 1 1 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 5 3 7 24 37 24 37 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760546422 9 28643308 CA C 360 PASS LINGO2 CCDS6524.1 r.? - - Del intronic D 28643308 28643315 1 15 324.836 - - 6 1 1 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 4 2 4 3 31 13 31 13 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760546641 9 29231462 AT A 660 PASS - - - - - Del - D 29231462 29231470 1 42 595.533 - - 7 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 6 5 7 6 20 21 20 21 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760546660 9 29290983 CA C 420 PASS - - - - - Del - D 29290983 29290988 1 18 376.567 - - 4 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 5 3 7 28 24 28 24 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760546843 9 29870290 CT C 300 PASS - - - - - Del - D 29870290 29870299 1 12 270.697 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 4 3 25 24 25 24 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760547460 9 32204812 TA T 420 PASS - - - - - Del - D 32204812 32204822 1 18 378.975 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 5 3 6 16 33 16 33 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760547794 9 33152871 CA C 360 PASS B4GALT1 CCDS6535.1 r.? - - Del intronic D 33152871 33152881 1 15 324.836 - - 9 1 1 B4GALT1|CCDS6535.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 B4GALT1|CCDS6535.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 2 6 2 33 15 33 15 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548200 9 34096442 CA C 360 PASS DCAF12 CCDS6549.1 r.? - - Del intronic D 34096442 34096451 1 12 324.836 - - 8 1 1 DCAF12|CCDS6549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCAF12|CCDS6549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 1 5 4 7 25 22 25 22 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548288 9 34219519 A AT 300 PASS UBAP1 CCDS6550.1 r.? - - Ins intronic I 34219519 34219526 1 6 267.686 - - 6 1 1 UBAP1|CCDS6550.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 UBAP1|CCDS6550.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 0 5 1 8 5 21 5 24 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548318 9 34277052 TC T 360 PASS KIF24 CCDS6551.2 r.? - - Del intronic D 34277052 34277054 1 15 324.836 - - 1 1 1 KIF24|CCDS6551.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF24|CCDS6551.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 2 5 15 25 15 25 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548363 9 34349796 TA T 420 PASS - - - - - Del - D 34349796 34349806 1 18 378.975 - - 9 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 5 5 6 20 30 20 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548431 9 34559756 TG T 360 PASS CNTFR CCDS6558.1 r.? - - Del intronic D 34559756 34559762 1 12 316.407 - - 5 1 1 CNTFR|CCDS6558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTFR|CCDS6558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 1 5 2 6 20 19 20 19 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548459 9 34681437 TC T 300 PASS - - - - - Del - D 34681437 34681446 1 12 270.697 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 5 2 33 36 33 36 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548599 9 35030938 AT A 787 PASS C9orf131 ENST00000378745 r.? - - Del intronic D 35030938 35030948 1 48 756.145 - - 9 1 1 C9orf131|ENST00000378745|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9orf131|ENST00000378745|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 11 3 13 5 36 21 36 21 13 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548607 9 35049043 C CA 480 PASS C9orf131 CCDS6572.2 r.? - - Ins downstream I 35049043 35049051 1 9 425.89 - - 7 1 - C9orf131|CCDS6572.2|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 C9orf131|CCDS6572.2|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 22 7 22 0 0 ./. 0 8 3 10 27 38 28 38 3 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548721 9 35454735 GA G 480 PASS - - - - - Del - D 35454735 35454745 1 16 432.513 - - 9 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 1 7 4 8 17 36 17 36 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548723 9 35456175 CT C 360 PASS - - - - - Del - D 35456175 35456184 1 15 324.836 - - 8 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 2 7 3 33 25 33 25 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548763 9 35570035 TAG T 360 PASS - - - - - Del - D 35570035 35570038 2 15 324.836 - - 1 1 1 - - ./. 0 0 0 0 20 8 20 8 0 0 ./. 4 2 5 3 25 25 25 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548858 9 35849520 CT C 420 PASS TMEM8B CCDS43800.1 r.? - - Del intronic D 35849520 35849528 1 18 378.975 - - 7 1 1 TMEM8B|CCDS43800.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM8B|CCDS43800.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 2 5 2 8 20 38 20 38 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760548897 9 35947872 TA T 540 PASS - - - - - Del - D 35947872 35947881 1 24 486.652 - - 8 1 1 - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 7 2 9 3 24 27 24 27 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760549114 9 36422066 TA T 360 PASS - - - - - Del - D 36422066 36422072 1 15 322.428 - - 5 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 2 4 2 30 18 30 18 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760549172 9 36538620 C CT 300 PASS - - - - - Ins - I 36538620 36538630 1 12 267.686 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 5 3 23 25 23 26 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760549326 9 36961798 TAC T 420 PASS PAX5 CCDS6607.1 r.? - - Del intronic D 36961798 36961811 2 18 378.975 - - 6 1 - PAX5|CCDS6607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAX5|CCDS6607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 5 5 5 26 24 26 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760549421 9 37331155 GT G 420 PASS ZCCHC7 CCDS6608.2 r.? - - Del intronic D 37331155 37331163 1 20 378.975 - - 7 1 1 ZCCHC7|CCDS6608.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZCCHC7|CCDS6608.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 3 5 3 22 12 22 12 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760549465 9 37432380 TA T 540 PASS GRHPR CCDS6609.1 r.? - - Del intronic D 37432380 37432390 1 30 487.254 - - 9 1 1 GRHPR|CCDS6609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRHPR|CCDS6609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 4 5 4 24 25 24 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760549485 9 37505412 GA G 389 PASS POLR1E CCDS6611.1 r.? - - Del downstream D 37505412 37505419 1 18 375.965 - - 6 1 1 POLR1E|CCDS6611.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 POLR1E|CCDS6611.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 5 2 6 20 23 20 23 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760549549 9 37733707 GT G 600 PASS FRMPD1 CCDS6612.1 r.? - - Del intronic D 37733707 37733717 1 35 541.394 - - 9 1 1 FRMPD1|CCDS6612.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMPD1|CCDS6612.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 6 4 7 4 29 25 29 25 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760549552 9 37738742 TG T 269 PASS FRMPD1 CCDS6612.1 r.? - - Del intronic D 37738742 37738750 1 10 270.697 - - 7 1 1 FRMPD1|CCDS6612.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMPD1|CCDS6612.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 1 4 2 23 31 23 31 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760549625 9 37959985 GA G 480 PASS SHB CCDS43806.1 r.? - - Del intronic D 37959985 37959995 1 21 431.309 - - 9 1 1 SHB|CCDS43806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHB|CCDS43806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 2 7 2 39 35 39 35 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760550182 9 43512737 GT G 314 PASS - - - - - Del - D 43512737 43512745 1 16 324.836 - - 7 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 5 3 40 24 40 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760550402 9 44836941 TC T 389 PASS - - - - - Del - D 44836941 44836948 1 18 372.353 - - 6 1 1 - - ./. 0 0 0 0 11 3 11 3 0 0 ./. 5 2 5 5 26 25 26 25 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760552891 9 71044309 CA C 360 PASS PGM5 CCDS6622.2 r.? - - Del intronic D 71044309 71044317 1 15 324.836 - - 7 1 1 PGM5|CCDS6622.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PGM5|CCDS6622.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 2 4 4 5 22 28 22 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760553062 9 71633334 C CT 300 PASS PRKACG CCDS6625.1 r.? - - Ins upstream I 71633334 71633344 1 12 267.686 - - 9 1 1 PRKACG|CCDS6625.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 PRKACG|CCDS6625.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 13 13 13 0 0 ./. 2 3 4 4 16 41 16 41 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760553272 9 72000481 CTGTT C 329 PASS FAM189A2 CCDS6629.1 r.? - - Del intronic D 72000481 72000495 4 15 324.836 - - 3 1 1 FAM189A2|CCDS6629.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM189A2|CCDS6629.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 4 4 4 20 26 20 26 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760553315 9 72206846 GA G 300 PASS APBA1 CCDS6630.1 r.? - - Del intronic D 72206846 72206854 1 10 270.697 - - 7 1 1 APBA1|CCDS6630.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 APBA1|CCDS6630.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 1 4 1 5 23 26 23 26 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760553386 9 72422123 AC A 360 PASS - - - - - Del - D 72422123 72422127 1 16 324.836 - - 3 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 3 3 5 19 29 19 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760553413 9 72485168 GA G 300 PASS C9orf135 CCDS35041.1 r.? - - Del intronic D 72485168 72485177 1 12 269.493 - - 8 1 1 C9orf135|CCDS35041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9orf135|CCDS35041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 3 3 14 8 14 8 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760553588 9 73026585 CA C 269 PASS KLF9 CCDS6633.1 r.? - - Del intronic D 73026585 73026587 1 12 270.697 - - 1 1 1 KLF9|CCDS6633.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KLF9|CCDS6633.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 3 2 37 37 37 37 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760553604 9 73092401 CT C 360 PASS - - - - - Del - D 73092401 73092409 1 15 324.234 - - 7 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 4 5 5 24 29 24 29 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760553644 9 73202786 CA C 300 PASS TRPM3 CCDS43835.1 r.? - - Del intronic D 73202786 73202789 1 12 265.278 - - 2 1 1 TRPM3|CCDS43835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPM3|CCDS43835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 2 4 3 30 22 30 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760553880 9 74016986 G GA 360 PASS TRPM3 ENST00000357533 r.? - - Ins intronic I 74016986 74016994 1 16 313.999 - - 7 1 1 TRPM3|ENST00000357533|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRPM3|ENST00000357533|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 3 3 4 4 30 24 30 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554067 9 74527130 AT A 540 PASS FAM108B1 CCDS35043.1 r.? - - Del upstream D 74527130 74527140 1 30 486.652 - - 9 1 1 FAM108B1|CCDS35043.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C9orf85|CCDS6639.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 5 5 7 39 26 39 26 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554219 9 74885462 A AT 300 PASS - - - - - Ins - I 74885462 74885469 1 6 265.278 - - 6 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 0 5 2 22 10 23 10 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554353 9 75197982 CA C 300 PASS TMC1 CCDS6643.1 r.? - - Del intronic D 75197982 75197990 1 12 270.697 - - 7 1 1 TMC1|CCDS6643.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TMC1|CCDS6643.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 2 4 2 22 31 22 31 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554380 9 75247634 CA C 360 PASS TMC1 CCDS6643.1 r.? - - Del intronic D 75247634 75247644 1 12 320.622 - - 9 1 1 TMC1|CCDS6643.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TMC1|CCDS6643.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 1 5 2 5 8 24 8 24 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554416 9 75362048 AT A 420 PASS TMC1 CCDS6643.1 r.? - - Del intronic D 75362048 75362057 1 18 378.975 - - 8 1 1 TMC1|CCDS6643.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMC1|CCDS6643.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 2 5 3 6 29 22 29 22 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554435 9 75460040 TA T 300 PASS - - - - - Del - D 75460040 75460050 1 10 270.697 - - 9 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 1 4 2 6 19 30 19 30 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554460 9 75589136 CA C 480 PASS ALDH1A1 ENST00000419959 r.? - - Del intronic D 75589136 75589142 1 24 433.115 - - 5 1 1 ALDH1A1|ENST00000419959|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ALDH1A1|ENST00000419959|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 5 3 5 4 27 25 27 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554507 9 75764867 CT C 420 PASS ANXA1 CCDS6645.1 r.? - - Del upstream D 75764867 75764877 1 18 378.975 - - 9 1 1 ANXA1|CCDS6645.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ANXA1|CCDS6645.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 5 3 9 15 35 15 35 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554577 9 76064973 CT C 360 PASS - - - - - Del - D 76064973 76064983 1 15 324.836 - - 9 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 2 5 3 25 17 25 17 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554671 9 76455654 TG T 360 PASS - - - - - Del - D 76455654 76455661 1 16 324.836 - - 6 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 3 3 3 5 31 19 31 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554789 9 76821597 A AT 629 PASS - - - - - Ins - I 76821597 76821603 1 42 588.91 - - 5 1 1 - - ./. 0 0 0 0 16 12 18 12 0 0 ./. 6 5 8 5 32 31 32 31 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554827 9 76921888 TA T 480 PASS - - - - - Del - D 76921888 76921896 1 24 433.115 - - 7 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 5 4 6 30 30 30 30 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554965 9 77440021 GA G 300 PASS TRPM6 CCDS6647.1 r.? - - Del intronic D 77440021 77440029 1 10 270.697 - - 7 1 1 TRPM6|CCDS6647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPM6|CCDS6647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 1 4 3 6 25 28 25 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760554970 9 77445213 GA G 269 PASS TRPM6 CCDS6647.1 r.? - - Del intronic D 77445213 77445223 1 12 270.697 - - 9 1 1 TRPM6|CCDS6647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPM6|CCDS6647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 20 4 20 0 0 ./. 2 3 2 3 25 25 25 25 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760555025 9 77538617 GA G 269 PASS - - - - - Del - D 77538617 77538627 1 12 263.472 - - 9 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 3 2 4 5 26 24 26 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760555151 9 77869880 G GT 447 PASS - - - - - Ins - I 77869880 77869886 1 30 481.836 - - 5 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 5 4 6 5 40 24 40 24 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760555312 9 78547257 C CT 300 PASS PCSK5 CCDS6652.1 r.? - - Ins intronic I 78547257 78547266 1 12 267.686 - - 8 1 1 PCSK5|CCDS6652.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCSK5|CCDS6652.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 2 3 3 44 38 44 38 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760555368 9 78715983 AT A 420 PASS PCSK5 CCDS6652.1 r.? - - Del intronic D 78715983 78715993 1 18 378.975 - - 9 1 1 PCSK5|CCDS6652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCSK5|CCDS6652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 2 6 3 37 31 37 31 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760555494 9 78982842 TG T 257 PASS - - - - - Del - D 78982842 78982850 1 12 259.258 - - 7 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 2 3 3 11 20 12 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760555559 9 79127199 T TC 420 PASS GCNT1 CCDS6653.1 r.? - - Ins downstream I 79127199 79127208 1 18 374.761 - - 8 1 1 GCNT1|CCDS6653.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 GCNT1|CCDS6653.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 16 7 16 7 0 0 ./. 5 2 5 2 39 23 39 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760555753 9 79762346 TA T 420 PASS - - - - - Del - D 79762346 79762355 1 18 378.975 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 5 4 5 32 35 32 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760555766 9 79794651 CTT C 300 PASS VPS13A CCDS6655.1 r.? - - Del intronic D 79794651 79794656 2 6 268.289 - - 4 1 1 VPS13A|CCDS6655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS13A|CCDS6655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 0 7 3 19 10 19 10 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760555983 9 80412958 CT C 300 PASS GNAQ CCDS6658.1 r.? - - Del intronic D 80412958 80412967 1 6 268.891 - - 8 1 - GNAQ|CCDS6658.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GNAQ|CCDS6658.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 0 5 0 6 10 32 10 32 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556085 9 80784042 AC A 720 PASS - - - - - Del - D 80784042 80784048 1 48 644.254 - - 5 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 5 7 7 9 30 33 30 33 7 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556169 9 81064619 T TC 298 PASS - - - - - Ins - I 81064619 81064628 1 15 321.224 - - 8 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 2 5 3 14 27 14 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556179 9 81098650 CTG C 360 PASS - - - - - Del - D 81098650 81098654 2 16 324.836 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 3 3 4 26 10 26 10 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556217 9 81213322 TA T 300 PASS - - - - - Del - D 81213322 81213332 1 6 269.493 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 0 5 0 6 2 35 2 35 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556399 9 82004637 GT G 300 PASS - - - - - Del - D 82004637 82004642 1 10 270.095 - - 4 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 4 2 6 19 38 19 38 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556431 9 82236119 AT A 360 PASS TLE4 CCDS43837.1 r.? - - Del intronic D 82236119 82236126 1 16 324.836 - - 6 1 1 TLE4|CCDS43837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TLE4|CCDS43837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 3 4 3 28 22 28 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556442 9 82256703 AG A 300 PASS TLE4 CCDS43837.1 r.? - - Del intronic D 82256703 82256708 1 12 270.697 - - 4 1 1 TLE4|CCDS43837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TLE4|CCDS43837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 3 3 3 13 18 13 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556542 9 82637682 CT C 420 PASS - - - - - Del - D 82637682 82637688 1 20 378.975 - - 5 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 3 4 5 26 32 26 32 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556544 9 82647977 TG T 300 PASS - - - - - Del - D 82647977 82647981 1 10 270.697 - - 3 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 4 2 8 24 33 24 33 2 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556670 9 83031063 AT A 480 PASS - - - - - Del - D 83031063 83031070 1 21 433.115 - - 6 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 2 6 3 6 22 22 22 22 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556732 9 83225653 GT G 261 PASS - - - - - Del - D 83225653 83225661 1 15 324.836 - - 7 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 4 3 4 23 29 23 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556899 9 83582667 TA T 457 PASS - - - - - Del - D 83582667 83582677 1 21 433.115 - - 9 1 1 - - ./. 0 0 0 0 8 20 8 20 0 0 ./. 2 6 2 6 12 29 12 29 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556932 9 83653187 GA G 360 PASS - - - - - Del - D 83653187 83653197 1 16 324.836 - - 9 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 3 3 4 22 22 22 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760556982 9 83815325 TA T 360 PASS - - - - - Del - D 83815325 83815335 1 16 324.836 - - 9 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 3 3 3 23 20 23 20 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760557156 9 84297000 C CA 300 PASS TLE1 CCDS6661.1 r.? - - Ins intronic I 84297000 84297009 1 12 267.686 - - 8 1 1 TLE1|CCDS6661.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TLE1|CCDS6661.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 2 5 4 30 24 30 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760557327 9 84849370 CAAGA C 329 PASS - - - - - Del - D 84849370 84849379 4 15 324.836 - - 2 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 4 2 4 30 25 30 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760557414 9 85176450 A AT 413 PASS - - - - - Ins - I 85176450 85176459 1 24 428.298 - - 8 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 5 4 7 27 15 27 15 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760557496 9 85549182 C CA 720 PASS - - - - - Ins - I 85549182 85549191 1 49 640.039 - - 8 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 6 6 8 7 30 33 30 33 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760557524 9 85692502 GA G 360 PASS - - - - - Del - D 85692502 85692511 1 16 322.428 - - 8 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 3 6 3 27 34 27 34 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760557573 9 85878401 CATT C 269 PASS FRMD3 CCDS43840.1 r.? - - Del intronic D 85878401 85878407 3 12 270.095 - - 1 1 1 FRMD3|CCDS43840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD3|CCDS43840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 2 4 5 17 24 18 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760557693 9 86201927 GA G 300 PASS - - - - - Del - D 86201927 86201936 1 6 268.289 - - 8 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 0 6 1 22 19 22 19 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760557766 9 86321863 AT A 480 PASS UBQLN1 CCDS6663.1 r.? - - Del intronic D 86321863 86321873 1 25 433.115 - - 9 1 1 UBQLN1|CCDS6663.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBQLN1|CCDS6663.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 4 5 7 23 31 23 31 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760557834 9 86506971 ATG A 401 PASS KIF27 CCDS6665.1 r.? - - Del intronic D 86506971 86506985 2 24 433.115 - - 6 1 1 KIF27|CCDS6665.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF27|CCDS6665.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 5 3 8 28 31 28 31 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760557861 9 86572987 CT C 300 PASS C9orf64 CCDS6666.2 r.? - - Del upstream D 86572987 86572997 1 10 270.697 - - 9 1 1 C9orf64|CCDS6666.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C9orf64|CCDS6666.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 18 15 18 15 0 0 ./. 1 4 2 4 25 23 25 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558069 9 87103163 T TC 420 PASS - - - - - Ins - I 87103163 87103169 1 18 374.761 - - 5 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 5 2 7 2 27 20 28 20 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558133 9 87298071 TTG T 300 PASS NTRK2 CCDS35051.1 r.? - - Del intronic D 87298071 87298089 2 12 270.697 - - 8 1 1 NTRK2|CCDS35051.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTRK2|CCDS35051.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 3 3 5 20 29 20 29 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558202 9 87552566 AT A 420 PASS NTRK2 CCDS6671.1 r.? - - Del intronic D 87552566 87552576 1 18 378.975 - - 9 1 1 NTRK2|CCDS6671.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTRK2|CCDS6671.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 2 6 3 37 25 37 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558227 9 87638502 AT A 360 PASS NTRK2 CCDS6671.1 r.5606delU c.? p.? Del 3'UTR variant D 87638502 87638507 1 7 324.234 - - 4 1 1 NTRK2|CCDS6671.1|r.5606delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 NTRK2|CCDS6671.1|r.5606delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 16 12 16 0 0 ./. 0 6 1 6 10 29 10 29 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558294 9 87861003 TA T 420 PASS - - - - - Del - D 87861003 87861013 1 20 378.975 - - 9 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 4 3 6 3 22 19 22 19 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558302 9 87892841 AG A 532 PASS - - - - - Del - D 87892841 87892844 1 35 538.383 - - 2 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 4 7 6 23 19 23 19 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558540 9 88824410 A AAG 720 PASS - - - - - Ins - I 88824410 88824420 2 49 632.213 - - 4 1 1 - - ./. 0 0 0 0 11 4 12 4 0 0 ./. 6 6 6 7 29 28 29 28 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558576 9 88908404 TA T 360 PASS ZCCHC6 CCDS35057.1 r.? - - Del intronic D 88908404 88908414 1 16 324.836 - - 9 1 1 ZCCHC6|CCDS35057.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZCCHC6|CCDS35057.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 3 3 3 30 29 30 29 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558620 9 89007213 CA C 276 PASS - - - - - Del - D 89007213 89007222 1 12 270.697 - - 8 1 1 - - ./. 0 0 0 0 10 23 10 23 0 0 ./. 2 3 3 3 20 26 20 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558647 9 89075839 CT C 420 PASS - - - - - Del - D 89075839 89075847 1 18 378.373 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 5 6 5 29 31 29 31 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558758 9 89387589 G GT 300 PASS - - - - - Ins - I 89387589 89387598 1 12 267.084 - - 8 1 1 - - ./. 0 0 0 0 15 15 16 15 0 0 ./. 2 3 5 4 29 42 29 42 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760558981 9 90219464 AT A 540 PASS DAPK1 CCDS43842.1 r.? - - Del intronic D 90219464 90219474 1 28 487.254 - - 9 1 1 DAPK1|CCDS43842.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAPK1|CCDS43842.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 6 3 7 22 29 22 29 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559073 9 90574622 CA C 300 PASS - - - - - Del - D 90574622 90574628 1 10 270.697 - - 5 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 1 7 1 31 11 31 11 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559124 9 90743576 TC T 267 PASS - - - - - Del - D 90743576 90743583 1 15 320.622 - - 6 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 2 4 4 6 21 23 21 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559246 9 90986982 AT A 420 PASS - - - - - Del - D 90986982 90986991 1 20 378.975 - - 8 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 3 4 3 7 18 32 18 32 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559251 9 91006251 GA G 360 PASS SPIN1 CCDS43843.1 r.? - - Del intronic D 91006251 91006261 1 15 324.836 - - 9 1 1 SPIN1|CCDS43843.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SPIN1|CCDS43843.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 4 2 4 2 35 18 35 18 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559275 9 91068052 CT C 480 PASS SPIN1 CCDS43843.1 r.? - - Del intronic D 91068052 91068062 1 24 427.696 - - 9 1 1 SPIN1|CCDS43843.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPIN1|CCDS43843.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 5 3 9 4 33 24 33 24 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559296 9 91139510 TA T 300 PASS - - - - - Del - D 91139510 91139519 1 12 267.686 - - 8 1 1 - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 2 3 3 3 16 19 16 19 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559334 9 91248285 GT G 300 PASS - - - - - Del - D 91248285 91248295 1 12 270.697 - - 9 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 4 2 24 24 24 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559335 9 91256180 CGT C 300 PASS - - - - - Del - D 91256180 91256200 2 12 270.697 - - 9 1 - - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 3 2 39 9 39 9 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559373 9 91412729 GT G 269 PASS - - - - - Del - D 91412729 91412739 1 6 270.697 - - 9 1 1 - - ./. 0 0 0 0 16 24 16 24 0 0 ./. 0 5 0 5 2 30 2 30 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559415 9 91544399 CT C 300 PASS - - - - - Del - D 91544399 91544408 1 6 270.697 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 0 5 0 5 13 23 13 23 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559502 9 91824552 TC T 300 PASS - - - - - Del - D 91824552 91824560 1 10 270.697 - - 7 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 1 5 4 21 27 21 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559722 9 93005548 A AT 420 PASS - - - - - Ins - I 93005548 93005555 1 14 374.761 - - 6 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 6 1 6 1 24 16 24 16 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559800 9 93266901 CT C 300 PASS - - - - - Del - D 93266901 93266910 1 10 270.697 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 4 1 5 3 22 3 22 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559806 9 93296474 CA C 420 PASS - - - - - Del - D 93296474 93296484 1 18 378.975 - - 9 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 2 7 3 25 8 25 8 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760559880 9 93541506 TA T 420 PASS - - - - - Del - D 93541506 93541516 1 18 378.975 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 5 2 7 12 21 12 21 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760560023 9 94053766 TG T 449 PASS AUH CCDS6689.1 r.? - - Del intronic D 94053766 94053770 1 21 433.115 - - 3 1 1 AUH|CCDS6689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AUH|CCDS6689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 6 4 8 23 33 23 33 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760560119 9 94363100 AT A 420 PASS ROR2 ENST00000375715 r.? - - Del intronic D 94363100 94363105 1 20 378.975 - - 4 1 1 ROR2|ENST00000375715|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ROR2|ENST00000375715|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 3 6 5 24 21 24 21 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760560190 9 94540150 GA G 360 PASS ROR2 CCDS6691.1 r.? - - Del intronic D 94540150 94540160 1 7 324.836 - - 9 1 1 ROR2|CCDS6691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROR2|CCDS6691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 0 6 1 23 11 23 11 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760560460 9 95375906 TC T 420 PASS IPPK CCDS6699.1 r.3960delG c.? p.? Del 3'UTR variant D 95375906 95375913 1 20 378.975 - - 6 1 1 IPPK|CCDS6699.1|r.3960delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 IPPK|CCDS6699.1|r.3960delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 5 11 5 0 0 ./. 3 4 5 5 20 26 20 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760560607 9 95826339 CT C 300 PASS SUSD3 CCDS6701.1 r.? - - Del intronic D 95826339 95826349 1 10 270.697 - - 9 1 1 SUSD3|CCDS6701.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUSD3|CCDS6701.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 1 4 1 26 23 26 23 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760560953 9 96793838 CTAAAT C 300 PASS PTPDC1 CCDS6707.1 r.? - - Del intronic D 96793838 96793846 5 12 270.697 - - 1 1 1 PTPDC1|CCDS6707.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPDC1|CCDS6707.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 2 3 2 25 19 25 19 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561053 9 97064830 AT A 420 PASS ZNF169 CCDS6709.2 r.? - - Del downstream D 97064830 97064836 1 20 377.169 - - 5 1 1 ZNF169|CCDS6709.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF169|CCDS6709.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 4 3 5 20 27 20 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561136 9 97344405 TA T 300 PASS FBP2 CCDS6711.1 r.? - - Del intronic D 97344405 97344410 1 10 270.697 - - 4 1 1 FBP2|CCDS6711.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBP2|CCDS6711.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 4 1 5 1 26 23 26 23 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561216 9 97509157 TC T 420 PASS MIR24-1 CCDS6713.1 r.? - - Del intronic D 97509157 97509165 1 20 378.373 - - 7 1 1 MIR24-1|CCDS6713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MIR24-1|CCDS6713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 4 3 6 18 32 18 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561233 9 97575300 CA C 389 PASS MIR24-1 CCDS6713.1 r.? - - Del intronic D 97575300 97575310 1 20 378.975 - - 9 1 1 MIR24-1|CCDS6713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR24-1|CCDS6713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 3 5 5 33 25 33 25 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561315 9 97870926 AT A 420 PASS FANCC CCDS35071.1 r.? - - Del intronic D 97870926 97870933 1 20 377.771 - - 6 1 1 FANCC|CCDS35071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FANCC|CCDS35071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 4 3 7 24 22 24 22 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561407 9 98209616 TG T 360 PASS PTCH1 CCDS6714.1 r.4109delC c.3921delC p.R1308fs*64 Del frameshift D 98209616 98209624 1 15 324.836 - - 7 1 1 PTCH1|CCDS6714.1|r.4109delC|c.3921delC|p.R1308fs*64|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PTCH1|CCDS6714.1|r.4109delC|c.3921delC|p.R1308fs*64|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 15 4 15 4 0 0 ./. 4 2 4 2 17 16 17 16 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561417 9 98282981 AT A 480 PASS PTCH1 CCDS47996.1 r.? - - Del upstream D 98282981 98282986 1 25 433.115 - - 4 1 1 PTCH1|CCDS47996.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PTCH1|CCDS47996.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 4 4 5 32 27 32 27 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561430 9 98339632 TA T 420 PASS - - - - - Del - D 98339632 98339641 1 20 378.373 - - 8 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 3 4 4 17 27 17 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561566 9 98711844 GA G 300 PASS C9orf102 CCDS35072.1 r.? - - Del intronic D 98711844 98711854 1 6 270.697 - - 9 1 1 C9orf102|CCDS35072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9orf102|CCDS35072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 0 5 1 7 24 30 24 30 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561604 9 98896394 GA G 480 PASS - - - - - Del - D 98896394 98896404 1 25 432.513 - - 9 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 4 4 5 5 27 30 27 30 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561720 9 99213321 GGGA G 298 PASS HABP4 CCDS6719.1 r.? - - Del intronic D 99213321 99213333 3 16 318.816 - - 3 1 1 HABP4|CCDS6719.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HABP4|CCDS6719.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 3 3 3 22 15 22 15 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561770 9 99327193 CT C 300 PASS CDC14C CCDS6722.1 r.? - - Del intronic D 99327193 99327200 1 12 270.697 - - 6 1 1 CDC14C|CCDS6722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC14C|CCDS6722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 2 4 21 30 21 30 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561893 9 99784938 A AG 255 PASS - - - - - Ins - I 99784938 99784948 1 20 366.934 - - 9 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 3 5 5 21 22 21 22 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561929 9 99887982 C CA 540 PASS AL445670.2 ENST00000504063 r.? - - Ins intronic I 99887982 99887990 1 28 481.836 - - 7 1 1 AL445670.2|ENST00000504063|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL445670.2|ENST00000504063|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 3 6 3 6 14 14 14 14 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760561945 9 99949899 AT A 300 PASS - - - - - Del - D 99949899 99949909 1 12 270.697 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 3 3 25 22 25 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562107 9 100501749 GC G 300 PASS - - - - - Del - D 100501749 100501755 1 10 270.697 - - 5 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 1 4 1 4 12 24 12 24 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562134 9 100583149 AT A 360 PASS - - - - - Del - D 100583149 100583159 1 16 324.836 - - 9 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 4 4 36 22 36 22 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562216 9 100860031 G GA 300 PASS TRIM14 CCDS6734.1 r.? - - Ins intronic I 100860031 100860041 1 10 267.686 - - 9 1 1 TRIM14|CCDS6734.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRIM14|CCDS6734.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 1 8 2 34 23 34 23 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562234 9 100899394 CA C 360 PASS CORO2A CCDS6735.1 r.? - - Del intronic D 100899394 100899401 1 15 323.03 - - 6 1 1 CORO2A|CCDS6735.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CORO2A|CCDS6735.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 4 4 5 23 17 23 17 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562372 9 101260112 CA C 300 PASS GABBR2 CCDS6736.1 r.? - - Del intronic D 101260112 101260120 1 12 268.891 - - 7 1 1 GABBR2|CCDS6736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GABBR2|CCDS6736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 3 3 3 26 13 26 13 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562511 9 101743739 CA C 420 PASS COL15A1 CCDS35081.1 r.? - - Del intronic D 101743739 101743749 1 18 378.975 - - 9 1 1 COL15A1|CCDS35081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL15A1|CCDS35081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 2 6 3 16 21 16 21 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562520 9 101801803 CA C 360 PASS COL15A1 CCDS35081.1 r.? - - Del intronic D 101801803 101801812 1 15 324.234 - - 8 1 1 COL15A1|CCDS35081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL15A1|CCDS35081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 4 2 5 24 19 24 19 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562524 9 101811954 CT C 360 PASS COL15A1 CCDS35081.1 r.? - - Del intronic D 101811954 101811962 1 12 322.428 - - 7 1 1 COL15A1|CCDS35081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL15A1|CCDS35081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 5 1 5 1 24 26 24 26 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562571 9 101976253 GT G 300 PASS ALG2 CCDS6739.1 r.? - - Del downstream D 101976253 101976259 1 12 270.697 - - 5 1 1 ALG2|CCDS6739.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ALG2|CCDS6739.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 2 3 9 17 9 17 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562579 9 101988705 CTCT C 269 PASS ALG2 CCDS6739.1 r.? - - Del upstream D 101988705 101988713 3 10 268.289 - - 2 1 1 ALG2|CCDS6739.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SEC61B|CCDS6741.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 4 3 5 21 31 21 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562592 9 102032046 GA G 360 PASS - - - - - Del - D 102032046 102032055 1 16 324.836 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 3 4 6 20 34 20 34 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562618 9 102097712 TG T 420 PASS - - - - - Del - D 102097712 102097720 1 20 378.975 - - 7 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 3 4 4 22 35 22 35 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562698 9 102479036 T TA 300 PASS - - - - - Ins - I 102479036 102479045 1 10 267.686 - - 8 1 1 - - ./. 0 0 0 0 22 12 23 12 0 0 ./. 4 1 8 1 22 13 22 13 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562831 9 102982682 AT A 300 PASS INVS CCDS6746.1 r.? - - Del intronic D 102982682 102982686 1 12 270.697 - - 3 1 1 INVS|CCDS6746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INVS|CCDS6746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 3 3 7 22 30 22 30 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562872 9 103080249 C CA 300 PASS TEX10 CCDS6748.1 r.? - - Ins intronic I 103080249 103080258 1 12 267.686 - - 8 1 1 TEX10|CCDS6748.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TEX10|CCDS6748.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 23 9 23 0 0 ./. 3 2 4 3 34 27 34 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760562982 9 103479844 G GA 300 PASS - - - - - Ins - I 103479844 103479853 1 12 265.278 - - 8 1 1 - - ./. 0 0 0 0 10 4 10 4 0 0 ./. 3 2 4 3 29 21 29 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760563156 9 104181604 CTA C 360 PASS ALDOB CCDS6756.1 r.? - - Del downstream D 104181604 104181608 2 16 324.234 - - 1 1 1 ALDOB|CCDS6756.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ALDOB|CCDS6756.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 19 10 19 10 0 0 ./. 3 3 4 4 28 32 28 32 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760563217 9 104411184 GT G 360 PASS GRIN3A CCDS6758.1 r.? - - Del intronic D 104411184 104411194 1 15 324.836 - - 9 1 1 GRIN3A|CCDS6758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIN3A|CCDS6758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 2 7 2 37 22 37 22 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760563221 9 104416894 CT C 420 PASS GRIN3A CCDS6758.1 r.? - - Del intronic D 104416894 104416904 1 8 378.975 - - 9 1 1 GRIN3A|CCDS6758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIN3A|CCDS6758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 7 0 8 0 25 2 25 2 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760563319 9 104933942 A AT 257 PASS - - - - - Ins - I 104933942 104933950 1 12 267.686 - - 7 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 2 3 3 23 24 23 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760563395 9 105271460 TAA T 420 PASS - - - - - Del - D 105271460 105271464 2 20 378.975 - - 3 1 1 - - ./. 0 0 0 0 3 8 3 8 0 0 ./. 3 4 3 4 20 33 20 33 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760563597 9 106008754 GA G 300 PASS - - - - - Del - D 106008754 106008764 1 10 270.697 - - 9 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 4 2 4 26 12 26 12 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760563603 9 106022690 CA C 480 PASS - - - - - Del - D 106022690 106022698 1 24 433.115 - - 7 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 3 5 5 33 25 33 25 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760563768 9 106739313 CTTTA C 420 PASS - - - - - Del - D 106739313 106739323 4 20 378.975 - - 2 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 4 5 6 21 30 21 30 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760563815 9 106874542 AT A 420 PASS SMC2 CCDS35086.1 r.? - - Del intronic D 106874542 106874550 1 18 375.965 - - 7 1 1 SMC2|CCDS35086.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMC2|CCDS35086.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 2 5 3 5 20 23 20 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760563840 9 106941136 AT A 420 PASS - - - - - Del - D 106941136 106941146 1 14 378.373 - - 9 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 1 6 1 6 22 23 22 23 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760564010 9 107568387 GA G 360 PASS ABCA1 CCDS6762.1 r.? - - Del intronic D 107568387 107568397 1 15 324.836 - - 9 1 1 ABCA1|CCDS6762.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCA1|CCDS6762.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 2 9 2 29 23 29 23 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760564323 9 108416352 AT A 420 PASS - - - - - Del - D 108416352 108416362 1 18 374.159 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 2 5 5 22 24 22 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760564344 9 108459855 AT A 300 PASS TMEM38B CCDS6768.1 r.? - - Del intronic D 108459855 108459865 1 6 270.697 - - 9 1 1 TMEM38B|CCDS6768.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM38B|CCDS6768.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 0 5 0 6 1 25 1 25 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760564429 9 108631373 GT G 689 PASS - - - - - Del - D 108631373 108631383 1 49 649.672 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 6 6 10 26 28 26 28 6 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760564471 9 108770407 CT C 480 PASS - - - - - Del - D 108770407 108770415 1 24 433.115 - - 7 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 3 5 3 6 38 27 38 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760564478 9 108790218 G GT 300 PASS - - - - - Ins - I 108790218 108790227 1 12 266.482 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 2 3 11 29 11 29 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760564608 9 109346200 GA G 360 PASS - - - - - Del - D 109346200 109346210 1 16 323.03 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 3 5 4 23 14 23 14 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760564630 9 109496769 AT A 420 PASS - - - - - Del - D 109496769 109496777 1 18 378.975 - - 7 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 5 2 5 2 27 41 27 41 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760564666 9 109648819 CA C 360 PASS ZNF462 CCDS35096.1 r.? - - Del intronic D 109648819 109648828 1 16 324.836 - - 8 1 1 ZNF462|CCDS35096.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF462|CCDS35096.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 3 4 5 23 22 23 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760564896 9 110340119 TA T 360 PASS - - - - - Del - D 110340119 110340129 1 16 323.632 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 3 3 3 20 12 20 12 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760564999 9 110669275 CT C 300 PASS - - - - - Del - D 110669275 110669285 1 10 269.493 - - 9 1 1 - - ./. 0 0 0 0 12 4 12 4 0 0 ./. 1 4 3 6 30 27 30 27 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760565067 9 110881248 AT A 360 PASS - - - - - Del - D 110881248 110881258 1 12 324.836 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 1 5 3 8 26 29 26 29 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760565480 9 112147412 TC T 480 PASS PTPN3 CCDS48001.1 r.? - - Del intronic D 112147412 112147417 1 24 433.115 - - 4 1 1 PTPN3|CCDS48001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN3|CCDS48001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 3 5 4 6 24 26 24 26 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760565527 9 112287502 TA T 540 PASS - - - - - Del - D 112287502 112287512 1 24 487.254 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 7 4 9 23 22 23 22 4 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760565552 9 112342781 TA T 689 PASS - - - - - Del - D 112342781 112342791 1 40 648.468 - - 9 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 9 4 11 16 32 16 32 4 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760565623 9 112621707 TA T 360 PASS PALM2 CCDS48002.1 r.? - - Del intronic D 112621707 112621713 1 15 324.836 - - 5 1 1 PALM2|CCDS48002.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PALM2|CCDS48002.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 2 4 2 24 20 24 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760565758 9 112978081 CA C 360 PASS - - - - - Del - D 112978081 112978091 1 15 324.836 - - 9 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 2 4 4 34 27 34 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760565842 9 113153080 TA T 420 PASS SVEP1 CCDS48004.1 r.? - - Del intronic D 113153080 113153090 1 20 378.975 - - 9 1 1 SVEP1|CCDS48004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SVEP1|CCDS48004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 5 15 5 0 0 ./. 4 3 4 5 11 16 11 16 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760565973 9 113678070 AT A 300 PASS LPAR1 CCDS6777.1 r.? - - Del intronic D 113678070 113678076 1 6 270.697 - - 5 1 1 LPAR1|CCDS6777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPAR1|CCDS6777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 8 21 8 0 0 ./. 0 5 0 6 6 29 6 29 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760566156 9 114204341 CA C 300 PASS KIAA0368 CCDS48006.1 r.? - - Del intronic D 114204341 114204349 1 12 270.697 - - 7 1 1 KIAA0368|CCDS48006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0368|CCDS48006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 2 3 3 23 22 23 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760566158 9 114215710 TG T 360 PASS KIAA0368 CCDS48006.1 r.? - - Del intronic D 114215710 114215718 1 16 324.836 - - 7 1 1 KIAA0368|CCDS48006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0368|CCDS48006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 3 3 4 19 24 19 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760566208 9 114322119 CT C 360 PASS ZNF483 CCDS35105.1 r.? - - Del intronic D 114322119 114322128 1 15 324.836 - - 8 1 1 ZNF483|CCDS35105.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF483|CCDS35105.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 4 3 6 20 26 20 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760566287 9 114549370 GA G 329 PASS C9orf84 CCDS6781.3 r.? - - Del intronic D 114549370 114549379 1 15 322.428 - - 8 1 1 C9orf84|CCDS6781.3|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C9orf84|CCDS6781.3|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 2 5 2 26 30 26 30 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760566291 9 114552032 CA C 300 PASS C9orf84 CCDS6781.3 r.? - - Del intronic D 114552032 114552041 1 10 270.697 - - 8 1 1 C9orf84|CCDS6781.3|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C9orf84|CCDS6781.3|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 1 5 2 24 9 24 9 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760566482 9 114962410 GAGA G 269 PASS - - - - - Del - D 114962410 114962419 3 12 270.697 - - 2 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 5 4 38 24 38 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760566703 9 115318360 CA C 360 PASS KIAA1958 CCDS35108.1 r.? - - Del intronic D 115318360 115318370 1 16 324.234 - - 9 1 1 KIAA1958|CCDS35108.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1958|CCDS35108.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 3 3 6 21 34 21 34 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760566866 9 115753027 CT C 360 PASS - - - - - Del - D 115753027 115753037 1 16 321.826 - - 9 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 3 5 5 17 33 17 33 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760566899 9 115887037 CT C 360 PASS - - - - - Del - D 115887037 115887046 1 15 324.836 - - 8 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 4 2 6 2 21 25 21 25 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760566950 9 116017955 CA C 300 PASS SLC31A1 CCDS6789.1 r.? - - Del intronic D 116017955 116017965 1 10 270.697 - - 9 1 1 SLC31A1|CCDS6789.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC31A1|CCDS6789.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 1 4 1 17 16 17 16 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760566954 9 116028014 AT A 420 PASS SLC31A1 CCDS6789.1 r.? - - Del downstream D 116028014 116028023 1 18 378.975 - - 8 1 1 SLC31A1|CCDS6789.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SLC31A1|ENST00000374210|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 5 3 6 18 26 18 26 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567049 9 116257163 CT C 540 PASS RGS3 CCDS43869.1 r.? - - Del intronic D 116257163 116257173 1 30 487.254 - - 9 1 - RGS3|CCDS43869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS3|CCDS43869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 4 7 6 20 34 20 34 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567176 9 116639152 CT C 269 PASS ZNF618 CCDS48008.1 r.? - - Del intronic D 116639152 116639162 1 10 256.849 - - 9 1 1 ZNF618|CCDS48008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF618|CCDS48008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 1 4 1 4 4 25 4 25 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567179 9 116646985 GAC G 300 PASS ZNF618 CCDS48008.1 r.? - - Del intronic D 116646985 116647000 2 6 269.493 - - 7 1 1 ZNF618|CCDS48008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF618|CCDS48008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 0 5 0 6 29 34 29 34 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567286 9 117009695 AT A 300 PASS COL27A1 CCDS6802.1 r.? - - Del intronic D 117009695 117009703 1 6 270.697 - - 7 1 1 COL27A1|CCDS6802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL27A1|CCDS6802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 0 8 0 25 2 25 2 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567289 9 117016400 TG T 300 PASS COL27A1 CCDS6802.1 r.? - - Del intronic D 117016400 117016408 1 12 270.095 - - 7 1 1 COL27A1|CCDS6802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL27A1|CCDS6802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 3 3 3 21 25 21 25 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567378 9 117296522 TA T 269 PASS - - - - - Del - D 117296522 117296531 1 12 270.697 - - 8 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 3 2 4 18 14 18 14 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567495 9 117568636 TTCA T 449 PASS TNFSF15 CCDS6809.1 r.? - - Del upstream D 117568636 117568643 3 21 433.115 - - 2 1 1 TNFSF15|CCDS6809.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TNFSF15|CCDS6809.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 6 11 6 0 0 ./. 6 2 7 2 29 12 29 12 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567533 9 117699245 CT C 420 PASS - - - - - Del - D 117699245 117699254 1 18 378.975 - - 8 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 2 9 2 23 24 23 24 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567768 9 118307070 T TA 360 PASS - - - - - Ins - I 118307070 118307078 1 16 321.224 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 3 3 3 18 22 18 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567825 9 118408383 GA G 300 PASS - - - - - Del - D 118408383 118408391 1 12 270.697 - - 7 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 4 3 27 20 27 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567910 9 118781060 AT A 780 PASS - - - - - Del - D 118781060 118781069 1 56 703.812 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 7 6 7 7 31 24 31 24 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760567980 9 119085848 GA G 337 PASS PAPPAS CCDS6813.1 r.? - - Del intronic D 119085848 119085857 1 16 324.836 - - 8 1 - PAPPAS|CCDS6813.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAPPAS|CCDS6813.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 3 5 3 36 29 36 29 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568016 9 119221890 TA T 360 PASS ASTN2 CCDS48009.1 r.? - - Del intronic D 119221890 119221899 1 12 324.836 - - 8 1 1 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 1 5 2 5 25 15 25 15 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568034 9 119270764 A AGT 300 PASS ASTN2 CCDS48009.1 r.? - - Ins intronic I 119270764 119270783 2 12 263.472 - - 9 1 - ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 3 3 35 36 36 36 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568086 9 119439592 GA G 300 PASS ASTN2 CCDS48009.1 r.? - - Del intronic D 119439592 119439602 1 10 270.697 - - 9 1 1 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 1 5 1 28 20 28 20 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568092 9 119451386 TC T 480 PASS ASTN2 CCDS48009.1 r.? - - Del intronic D 119451386 119451394 1 25 433.115 - - 7 1 1 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 4 6 4 26 26 26 26 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568395 9 120286880 AT A 600 PASS - - - - - Del - D 120286880 120286888 1 35 541.394 - - 7 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 6 4 6 24 23 24 23 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568455 9 120447476 TTG T 300 PASS - - - - - Del - D 120447476 120447492 2 10 270.697 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 4 2 4 15 22 15 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568640 9 121052099 AT A 420 PASS - - - - - Del - D 121052099 121052107 1 14 378.975 - - 7 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 1 6 2 7 4 28 4 28 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568734 9 121312946 CT C 300 PASS - - - - - Del - D 121312946 121312956 1 12 270.697 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 3 2 5 30 21 30 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568803 9 121594942 CA C 540 PASS - - - - - Del - D 121594942 121594952 1 30 487.254 - - 9 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 4 7 7 26 26 26 26 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568901 9 121975420 C CT 420 PASS DBC1 CCDS6822.1 r.? - - Ins intronic I 121975420 121975427 1 20 374.159 - - 6 1 1 DBC1|CCDS6822.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DBC1|CCDS6822.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 4 4 7 23 43 24 43 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568972 9 122218206 AG A 300 PASS - - - - - Del - D 122218206 122218213 1 10 267.686 - - 6 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 1 7 4 24 27 24 27 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568976 9 122234132 G GA 360 PASS - - - - - Ins - I 122234132 122234142 1 15 321.224 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 2 5 3 22 22 22 22 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760568987 9 122263355 GCT G 780 PASS - - - - - Del - D 122263355 122263371 2 54 703.812 - - 7 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 5 8 6 9 26 33 26 33 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760569031 9 122416424 C CT 480 PASS - - - - - Ins - I 122416424 122416428 1 24 428.298 - - 3 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 5 5 5 30 27 30 27 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760569052 9 122482564 AT A 660 PASS - - - - - Del - D 122482564 122482570 1 40 594.329 - - 5 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 7 4 8 9 34 26 34 26 8 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760569176 9 122981858 TA T 480 PASS - - - - - Del - D 122981858 122981868 1 25 433.115 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 4 5 4 18 18 18 18 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760569315 9 123474371 CA C 360 PASS MEGF9 CCDS48010.1 r.? - - Del intronic D 123474371 123474378 1 15 324.836 - - 6 1 1 MEGF9|CCDS48010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MEGF9|CCDS48010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 2 5 2 26 13 26 13 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760569372 9 123606773 CA C 480 PASS PSMD5 CCDS6824.1 r.? - - Del upstream D 123606773 123606782 1 25 433.115 - - 8 1 1 PSMD5|CCDS6824.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PSMD5|CCDS6824.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 4 6 5 45 23 45 23 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760569391 9 123662273 CT C 360 PASS TRAF1 CCDS6825.1 r.? - - Del downstream D 123662273 123662283 1 15 321.224 - - 9 1 1 TRAF1|CCDS6825.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TRAF1|CCDS6825.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 2 4 2 21 20 21 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760569533 9 124173705 AT A 360 PASS - - - - - Del - D 124173705 124173715 1 15 324.234 - - 9 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 2 4 4 7 27 21 27 21 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760569791 9 124905205 CA C 360 PASS NDUFA8 CCDS6835.1 r.? - - Del downstream D 124905205 124905214 1 15 324.836 - - 8 1 1 NDUFA8|CCDS6835.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NDUFA8|CCDS6835.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 4 4 5 16 28 16 28 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760569833 9 125059587 CA C 300 PASS MRRF CCDS6840.1 r.? - - Del intronic D 125059587 125059597 1 12 270.697 - - 9 1 1 MRRF|CCDS6840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRRF|CCDS6840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 4 2 30 4 30 4 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760569840 9 125086238 G GA 540 PASS MRRF CCDS6840.1 r.? - - Ins downstream I 125086238 125086246 1 30 480.632 - - 7 1 1 MRRF|CCDS6840.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 MRRF|CCDS6840.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 10 18 10 19 0 0 ./. 5 4 7 4 36 22 36 23 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570037 9 125699876 CA C 420 PASS RABGAP1 CCDS6848.2 r.? - - Del upstream D 125699876 125699886 1 20 376.567 - - 9 1 1 RABGAP1|CCDS6848.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RABGAP1|CCDS6848.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 4 5 5 24 21 24 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570074 9 125800648 AT A 360 PASS RABGAP1 CCDS6848.2 r.? - - Del intronic D 125800648 125800658 1 12 324.836 - - 9 1 1 RABGAP1|CCDS6848.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RABGAP1|CCDS6848.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 1 5 1 7 10 22 10 22 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570076 9 125806346 GT G 343 PASS RABGAP1 CCDS6848.2 r.? - - Del intronic D 125806346 125806356 1 18 378.975 - - 9 1 1 RABGAP1|CCDS6848.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RABGAP1|CCDS6848.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 5 3 5 20 23 20 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570103 9 125899677 GT G 420 PASS STRBP CCDS6851.1 r.? - - Del intronic D 125899677 125899686 1 20 378.373 - - 8 1 1 STRBP|CCDS6851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STRBP|CCDS6851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 3 4 5 22 31 22 31 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570384 9 126952038 CA C 600 PASS - - - - - Del - D 126952038 126952046 1 36 540.792 - - 7 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 5 7 5 18 25 18 25 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570445 9 127141726 AC A 600 PASS PSMB7 CCDS6855.1 r.? - - Del intronic D 127141726 127141728 1 35 538.383 - - 1 1 1 PSMB7|CCDS6855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSMB7|CCDS6855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 6 8 9 30 27 30 27 8 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570500 9 127346751 AT A 540 PASS NR6A1 CCDS35137.1 r.? - - Del intronic D 127346751 127346758 1 24 486.652 - - 6 1 1 NR6A1|CCDS35137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NR6A1|CCDS35137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 7 2 9 3 32 22 32 22 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570521 9 127429198 AG A 420 PASS NR6A1 CCDS35137.1 r.? - - Del intronic D 127429198 127429202 1 20 378.975 - - 3 1 1 NR6A1|CCDS35137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NR6A1|CCDS35137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 4 4 4 22 27 22 27 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570587 9 127582119 AT A 300 PASS OLFML2A CCDS6857.2 r.? - - Del downstream D 127582119 127582127 1 10 270.095 - - 7 1 1 OLFML2A|CCDS6857.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OLFML2A|CCDS6857.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 1 6 2 31 19 31 19 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570645 9 127664771 AT A 329 PASS GOLGA1 CCDS6860.1 r.? - - Del intronic D 127664771 127664780 1 12 324.836 - - 8 1 1 GOLGA1|CCDS6860.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GOLGA1|CCDS6860.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 1 5 3 5 32 20 32 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570648 9 127676349 GA G 898 PASS GOLGA1 CCDS6860.1 r.? - - Del intronic D 127676349 127676359 1 80 866.23 - - 9 1 1 GOLGA1|CCDS6860.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GOLGA1|CCDS6860.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 9 7 10 8 32 31 32 31 10 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570794 9 127998972 CCTT C 312 PASS HSPA5 CCDS6863.1 r.2065_2067delAAG c.1861_1863delAAG p.K621delK Del inframe D 127998972 127998982 3 15 324.234 - - 3 1 1 HSPA5|CCDS6863.1|r.2065_2067delAAG|c.1861_1863delAAG|p.K621delK|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 HSPA5|CCDS6863.1|r.2065_2067delAAG|c.1861_1863delAAG|p.K621delK|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 7 4 7 4 0 0 ./. 4 2 4 3 27 30 27 30 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570814 9 128028925 CT C 576 PASS GAPVD1 CCDS35138.1 r.? - - Del intronic D 128028925 128028935 1 27 541.393 - - 9 1 1 GAPVD1|CCDS35138.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GAPVD1|CCDS35138.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 8 2 11 3 33 9 33 9 11 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570856 9 128124424 T TA 360 PASS GAPVD1 CCDS35138.1 r.? - - Ins intronic I 128124424 128124433 1 15 321.224 - - 8 1 1 GAPVD1|CCDS35138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GAPVD1|CCDS35138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 4 2 4 30 26 30 26 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570914 9 128276791 A AT 300 PASS MAPKAP1 CCDS35140.1 r.? - - Ins intronic I 128276791 128276797 1 12 267.686 - - 5 1 1 MAPKAP1|CCDS35140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAPKAP1|CCDS35140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 16 11 0 0 ./. 3 2 4 3 27 28 27 30 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570923 9 128303159 CA C 900 PASS MAPKAP1 CCDS35140.1 r.? - - Del intronic D 128303159 128303168 1 72 812.09 - - 8 1 1 MAPKAP1|CCDS35140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAPKAP1|CCDS35140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 7 8 11 12 28 32 28 32 11 12 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760570926 9 128307546 CAGTA C 540 PASS MAPKAP1 CCDS35140.1 r.? - - Del intronic D 128307546 128307554 4 30 487.254 - - 1 1 1 MAPKAP1|CCDS35140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAPKAP1|CCDS35140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 5 4 5 4 29 25 29 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760571056 9 128668775 AAAG A 329 PASS PBX3 CCDS6865.1 r.? - - Del intronic D 128668775 128668783 3 7 324.836 - - 2 1 1 PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 0 6 0 6 11 25 11 25 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760571138 9 128922956 TG T 269 PASS - - - - - Del - D 128922956 128922963 1 10 262.268 - - 6 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 1 4 3 5 21 35 21 35 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760571183 9 129035787 AT A 360 PASS - - - - - Del - D 129035787 129035796 1 16 324.234 - - 8 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 3 6 4 33 19 33 19 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760571247 9 129257307 C CA 300 PASS FAM125B CCDS35142.1 r.? - - Ins intronic I 129257307 129257314 1 10 267.686 - - 6 1 1 FAM125B|CCDS35142.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM125B|CCDS35142.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 4 3 4 20 28 21 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760571396 9 129662940 CA C 329 PASS - - - - - Del - D 129662940 129662949 1 16 324.836 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 3 5 5 32 23 32 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760571467 9 130004245 G GT 540 PASS GARNL3 ENST00000373399 r.? - - Ins upstream I 130004245 130004248 1 18 481.234 - - 2 1 - GARNL3|ENST00000373399|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 GARNL3|ENST00000439286|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 10 8 10 0 0 ./. 8 1 9 4 22 27 22 27 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760571671 9 130592949 CA C 329 PASS ENG CCDS6880.1 r.? - - Del intronic D 130592949 130592958 1 12 324.836 - - 8 1 - ENG|CCDS6880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENG|CCDS6880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 1 6 8 41 31 41 31 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760571848 9 130970278 AC A 360 PASS DNM1 CCDS43882.1 r.? - - Del intronic D 130970278 130970284 1 16 324.234 - - 5 1 1 DNM1|CCDS43882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNM1|CCDS43882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 3 4 3 19 16 19 16 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760571893 9 131165676 GCTTT G 360 PASS - - - - - Del - D 131165676 131165697 4 16 324.836 - - 5 1 - - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 3 5 3 34 29 34 29 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760571994 9 131416845 TC T 420 PASS WDR34 CCDS6906.2 r.? - - Del intronic D 131416845 131416851 1 20 377.771 - - 5 1 1 WDR34|CCDS6906.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR34|CCDS6906.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 3 4 4 6 29 34 29 34 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760572030 9 131481349 AT A 526 PASS PKN3 CCDS6908.1 r.? - - Del intronic D 131481349 131481357 1 30 487.254 - - 7 1 1 PKN3|CCDS6908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKN3|CCDS6908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 4 7 4 28 18 28 18 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760572189 9 131834324 CTG C 540 PASS FAM73B CCDS6917.1 r.3601_3602delUG c.? p.? Del 3'UTR variant D 131834324 131834329 2 30 484.846 - - 2 1 1 FAM73B|CCDS6917.1|r.3601_3602delUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 FAM73B|CCDS6917.1|r.3601_3602delUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 5 5 5 27 33 27 33 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760572278 9 131975495 AG A 689 PASS - - - - - Del - D 131975495 131975501 1 48 640.039 - - 5 1 1 - - ./. 0 0 0 0 10 4 10 4 0 0 ./. 7 5 10 5 32 24 32 25 10 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760572537 9 132506137 CT C 360 PASS PTGES CCDS6927.1 r.? - - Del intronic D 132506137 132506146 1 16 324.836 - - 8 1 1 PTGES|CCDS6927.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTGES|CCDS6927.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 3 3 3 29 23 29 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760572694 9 132694656 CT C 540 PASS FNBP1 CCDS48040.1 r.? - - Del intronic D 132694656 132694666 1 24 484.846 - - 9 1 1 FNBP1|CCDS48040.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FNBP1|CCDS48040.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 7 2 8 2 36 21 36 21 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760572840 9 132889558 G GGA 300 PASS GPR107 CCDS48041.1 r.? - - Ins intronic I 132889558 132889569 2 10 264.676 - - 5 1 1 GPR107|CCDS48041.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPR107|CCDS48041.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 1 4 1 5 25 32 25 33 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760572876 9 132959019 CA C 300 PASS NCS1 CCDS6932.1 r.? - - Del intronic D 132959019 132959029 1 12 270.697 - - 9 1 1 NCS1|CCDS6932.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCS1|CCDS6932.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 2 4 2 24 32 24 32 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760572925 9 133224835 TG T 600 PASS HMCN2 ENST00000420499 r.? - - Del intronic D 133224835 133224842 1 35 533.567 - - 6 1 1 HMCN2|ENST00000420499|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMCN2|ENST00000420499|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 15 4 15 0 0 ./. 4 6 6 8 34 22 34 22 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760572948 9 133266332 TG T 300 PASS HMCN2 ENST00000277491 r.? - - Del intronic D 133266332 133266338 1 12 270.697 - - 5 1 1 HMCN2|ENST00000277491|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMCN2|ENST00000277491|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 2 3 5 3 26 21 26 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760572960 9 133305749 GC G 480 PASS HMCN2 ENST00000428715 r.1537delC c.1536delC p.P514fs*22 Del frameshift D 133305749 133305756 1 25 433.115 - - 6 1 1 HMCN2|ENST00000428715|r.1537delC|c.1536delC|p.P514fs*22|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 HMCN2|ENST00000428715|r.1537delC|c.1536delC|p.P514fs*22|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 4 5 4 30 22 30 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760573014 9 133434994 CA C 300 PASS - - - - - Del - D 133434994 133435004 1 12 269.493 - - 9 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 2 3 2 5 20 21 20 21 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760573063 9 133572179 TGA T 480 PASS EXOSC2 CCDS6935.1 r.? - - Del intronic D 133572179 133572193 2 25 433.115 - - 6 1 1 EXOSC2|CCDS6935.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOSC2|CCDS6935.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 4 6 4 32 28 32 28 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760573264 9 133993483 GT G 480 PASS AIF1L CCDS6939.1 r.? - - Del intronic D 133993483 133993493 1 21 431.309 - - 9 1 1 AIF1L|CCDS6939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AIF1L|CCDS6939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 2 6 2 30 22 30 22 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760573403 9 134261090 C CT 420 PASS - - - - - Ins - I 134261090 134261099 1 20 374.159 - - 8 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 4 4 5 33 35 33 36 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760573471 9 134384550 CT C 540 PASS POMT1 CCDS43894.1 r.? - - Del intronic D 134384550 134384560 1 30 486.652 - - 9 1 1 POMT1|CCDS43894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POMT1|CCDS43894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 5 4 8 27 37 27 37 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760573695 9 135058266 TC T 360 PASS NTNG2 CCDS6946.1 r.? - - Del intronic D 135058266 135058274 1 15 323.632 - - 7 1 1 NTNG2|CCDS6946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTNG2|CCDS6946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 4 2 6 3 35 23 35 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760573770 9 135278251 CT C 300 PASS TTF1 CCDS6948.1 r.? - - Del intronic D 135278251 135278261 1 10 270.697 - - 9 1 1 TTF1|CCDS6948.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TTF1|CCDS6948.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 1 8 3 47 29 47 29 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760573781 9 135292338 G GT 420 PASS C9orf171 CCDS6949.1 r.? - - Ins intronic I 135292338 135292347 1 18 374.761 - - 8 1 1 C9orf171|CCDS6949.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C9orf171|CCDS6949.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 2 7 3 18 35 19 35 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760573805 9 135349078 AT A 300 PASS C9orf171 CCDS6949.1 r.? - - Del intronic D 135349078 135349088 1 12 270.697 - - 9 1 1 C9orf171|CCDS6949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9orf171|CCDS6949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 3 4 22 25 22 25 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760573876 9 135584779 TA T 360 PASS - - - - - Del - D 135584779 135584789 1 7 324.836 - - 9 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 6 0 6 3 33 33 33 33 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760573966 9 135882374 GATGGTTGGATGGATGGATGGATGGATGGTGGATGTGTGGATGGATGAATGGATGAACAGATGGGTGGATGGATGGATGGATGGATGC G 269 PASS - - - - - Del - D 135882374 135882466 87 10 264.074 - - 1 1 - - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 4 1 0 0 24 33 28 34 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760574037 9 136118909 GA G 300 PASS - - - - - Del - D 136118909 136118918 1 10 270.697 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 1 4 1 31 9 31 9 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760574132 9 136392637 A AGT 420 PASS ADAMTSL2 CCDS6976.1 r.? - - Ins upstream I 136392637 136392652 2 18 369.945 - - 7 1 1 ADAMTSL2|CCDS6976.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ADAMTSL2|CCDS6976.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 5 4 6 27 31 28 31 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760574157 9 136463010 GA G 300 PASS - - - - - Del - D 136463010 136463019 1 12 270.697 - - 8 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 3 4 31 12 31 12 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760574344 9 136903582 CT C 540 PASS BRD3 CCDS6980.1 r.? - - Del intronic D 136903582 136903591 1 18 481.836 - - 8 1 1 BRD3|CCDS6980.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRD3|CCDS6980.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 8 1 9 4 33 26 33 26 9 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760574497 9 137499775 CA C 600 PASS - - - - - Del - D 137499775 137499784 1 27 541.393 - - 8 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 8 2 12 15 28 15 28 2 12 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760574523 9 137615161 CG C 300 PASS COL5A1 CCDS6982.1 r.? - - Del intronic D 137615161 137615168 1 12 270.697 - - 6 1 1 COL5A1|CCDS6982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL5A1|CCDS6982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 2 4 2 25 29 25 29 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760574679 9 138097975 CAG C 349 PASS - - - - - Del - D 138097975 138097988 2 15 324.836 - - 6 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 4 2 6 2 32 24 32 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760574721 9 138242797 G GA 360 PASS C9orf62 ENST00000320778 r.? - - Ins downstream I 138242797 138242806 1 16 318.816 - - 8 1 1 C9orf62|ENST00000320778|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 C9orf62|ENST00000320778|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 18 13 18 14 0 0 ./. 3 3 5 3 36 22 36 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760574728 9 138280163 TA T 300 PASS - - - - - Del - D 138280163 138280170 1 10 270.697 - - 6 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 1 5 4 20 21 20 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760574751 9 138336536 C CA 300 PASS - - - - - Ins - I 138336536 138336545 1 12 266.482 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 3 3 4 25 22 25 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760574936 9 138867690 ACT A 360 PASS - - - - - Del - D 138867690 138867694 2 12 324.234 - - 1 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 1 5 2 5 27 22 27 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575078 9 139353357 TA T 360 PASS SEC16A ENST00000313050 r.? - - Del intronic D 139353357 139353367 1 12 318.213 - - 9 1 1 SEC16A|ENST00000313050|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEC16A|ENST00000313050|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 5 3 5 14 30 14 30 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575197 9 139724477 CG C 360 PASS C9orf86 CCDS48058.1 r.? - - Del intronic D 139724477 139724485 1 12 324.836 - - 7 1 1 C9orf86|CCDS48058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9orf86|CCDS48058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 5 1 8 3 26 20 26 20 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575312 9 140015049 CA C 300 PASS - - - - - Del - D 140015049 140015059 1 6 270.095 - - 9 1 1 - - ./. 0 0 0 0 3 15 3 15 0 0 ./. 0 5 1 5 1 21 1 21 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575323 9 140033405 GC G 360 PASS GRIN1 CCDS7031.1 r.565delC c.? p.? Del 5'UTR variant D 140033405 140033410 1 15 324.836 - - 4 1 1 GRIN1|CCDS7031.1|r.565delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 GRIN1|CCDS7031.1|r.565delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 15 5 15 5 0 0 ./. 4 2 4 2 28 18 28 18 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575445 9 140515592 GCT G 600 PASS C9orf37 CCDS35189.1 r.? - - Del upstream D 140515592 140515597 2 35 541.394 - - 2 1 1 C9orf37|CCDS35189.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 EHMT1|ENST00000428019|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 6 4 6 17 31 17 31 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575498 9 140687157 CA C 300 PASS EHMT1 ENST00000428019 r.? - - Del intronic D 140687157 140687166 1 12 265.278 - - 8 1 1 EHMT1|ENST00000428019|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EHMT1|ENST00000428019|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 3 5 21 24 21 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575562 9 140824420 GT G 360 PASS CACNA1B ENST00000371372 r.? - - Del intronic D 140824420 140824430 1 15 324.836 - - 9 1 1 CACNA1B|ENST00000371372|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1B|ENST00000371372|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 2 4 4 32 28 32 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575572 9 140903412 AC A 300 PASS CACNA1B ENST00000371372 r.? - - Del intronic D 140903412 140903418 1 12 270.697 - - 5 1 1 CACNA1B|ENST00000371372|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1B|ENST00000371372|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 3 4 4 32 20 32 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575577 9 140931093 AT A 360 PASS CACNA1B ENST00000371372 r.? - - Del intronic D 140931093 140931102 1 15 324.836 - - 8 1 1 CACNA1B|ENST00000371372|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1B|ENST00000371372|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 2 4 2 26 27 26 27 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575638 9 141071868 TAA T 269 PASS - - - - - Del - D 141071868 141071872 2 24 431.309 - - 3 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 5 4 6 43 46 43 46 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575714 X 2778179 GT G 569 PASS GYG2 CCDS14121.1 r.? - - Del intronic D 2778179 2778189 1 32 539.272 - - 9 1 1 GYG2|CCDS14121.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GYG2|CCDS14121.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 3 7 5 8 24 32 24 32 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760575852 X 3132487 GAT G 869 PASS - - - - - Del - D 3132487 3132491 2 66 804.092 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 10 6 11 25 24 25 24 6 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760576009 X 3605726 TA T 300 PASS PRKX CCDS14125.1 r.? - - Del intronic D 3605726 3605736 1 12 270.84 - - 9 1 1 PRKX|CCDS14125.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKX|CCDS14125.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 2 3 4 5 30 26 30 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760576113 X 3909100 C CT 360 PASS - - - - - Ins - I 3909100 3909109 1 12 318.386 - - 8 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 1 5 1 7 22 36 22 36 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760576522 X 5194497 C CA 360 PASS - - - - - Ins - I 5194497 5194505 1 15 321.396 - - 7 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 2 4 3 5 29 28 29 28 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760576580 X 5463926 CT C 300 PASS - - - - - Del - D 5463926 5463936 1 12 266.024 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 3 3 23 23 23 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760576703 X 5827687 T TG 300 PASS NLGN4X CCDS14126.1 r.? - - Ins intronic I 5827687 5827697 1 10 267.83 - - 9 1 1 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 1 6 1 26 17 26 17 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760576711 X 5853149 GA G 300 PASS NLGN4X CCDS14126.1 r.? - - Del intronic D 5853149 5853157 1 12 270.238 - - 7 1 1 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 2 3 8 26 8 26 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760576720 X 5884449 GT G 300 PASS NLGN4X CCDS14126.1 r.? - - Del intronic D 5884449 5884457 1 12 270.84 - - 7 1 1 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 3 2 21 23 21 23 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760576789 X 6087865 GA G 300 PASS NLGN4X CCDS14126.1 r.? - - Del intronic D 6087865 6087875 1 6 270.84 - - 9 1 1 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 0 5 1 7 20 26 20 26 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760576799 X 6109903 TA T 577 PASS NLGN4X CCDS14126.1 r.? - - Del intronic D 6109903 6109913 1 35 540.477 - - 9 1 1 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 6 4 8 4 31 29 31 29 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760576880 X 6407213 G GA 300 PASS - - - - - Ins - I 6407213 6407220 1 6 267.83 - - 6 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 0 5 2 5 12 23 12 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760576897 X 6455343 TC T 360 PASS VCX3A CCDS35199.1 r.? - - Del upstream D 6455343 6455351 1 16 324.406 - - 7 1 1 VCX3A|CCDS35199.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 VCX3A|CCDS35199.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 3 4 4 23 24 23 24 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577093 X 7205281 GA G 600 PASS STS CCDS14127.1 r.? - - Del intronic D 7205281 7205291 1 35 541.681 - - 9 1 1 STS|CCDS14127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STS|CCDS14127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 6 4 6 6 28 28 28 28 6 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577126 X 7371305 AT A 306 PASS - - - - - Del - D 7371305 7371315 1 16 325.008 - - 9 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 3 4 3 30 14 30 14 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577140 X 7400493 AC A 360 PASS - - - - - Del - D 7400493 7400495 1 15 323.804 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 4 2 4 16 22 16 22 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577248 X 8214344 G GT 420 PASS - - - - - Ins - I 8214344 8214352 1 20 374.962 - - 7 1 1 - - ./. 0 0 0 0 8 15 9 15 0 0 ./. 4 3 5 3 26 14 26 14 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577292 X 8322549 AT A 300 PASS ENSG00000227978 ENST00000418307 r.? - - Del intronic D 8322549 8322556 1 10 270.84 - - 6 1 1 ENSG00000227978|ENST00000418307|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000227978|ENST00000418307|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 4 1 5 2 26 15 26 15 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577384 X 8682771 GA G 360 PASS KAL1 CCDS14130.1 r.? - - Del intronic D 8682771 8682780 1 15 325.008 - - 8 1 1 KAL1|CCDS14130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KAL1|CCDS14130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 2 6 3 39 31 39 31 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577387 X 8691785 C CT 449 PASS KAL1 CCDS14130.1 r.? - - Ins intronic I 8691785 8691792 1 24 428.528 - - 6 1 1 KAL1|CCDS14130.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KAL1|CCDS14130.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 5 3 6 4 25 25 26 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577448 X 9063405 TA T 360 PASS - - - - - Del - D 9063405 9063415 1 12 323.202 - - 9 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 1 5 2 7 19 30 19 30 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577450 X 9076820 GA G 420 PASS - - - - - Del - D 9076820 9076828 1 20 368.339 - - 7 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 3 4 3 26 30 26 30 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577462 X 9156249 TA T 480 PASS - - - - - Del - D 9156249 9156258 1 25 430.334 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 4 6 4 36 20 36 20 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577493 X 9244488 TC T 360 PASS - - - - - Del - D 9244488 9244498 1 12 320.192 - - 9 1 1 - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 5 1 5 1 14 10 14 10 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577702 X 9848759 GT G 480 PASS SHROOM2 CCDS14135.1 r.? - - Del intronic D 9848759 9848768 1 24 433.345 - - 8 1 1 SHROOM2|CCDS14135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHROOM2|CCDS14135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 3 5 3 7 27 31 27 31 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577764 X 10042492 AT A 389 PASS WWC3 CCDS14136.1 r.? - - Del intronic D 10042492 10042498 1 20 379.176 - - 5 1 1 WWC3|CCDS14136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWC3|CCDS14136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 3 4 4 23 25 23 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577767 X 10054769 AT A 660 PASS WWC3 CCDS14136.1 r.? - - Del intronic D 10054769 10054779 1 42 594.043 - - 9 1 1 WWC3|CCDS14136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWC3|CCDS14136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 6 5 8 6 41 21 41 21 8 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577802 X 10229907 GT G 449 PASS - - - - - Del - D 10229907 10229917 1 21 418.895 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 6 2 6 5 19 21 19 21 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577877 X 10605260 CA C 300 PASS MID1 CCDS14138.1 r.? - - Del intronic D 10605260 10605269 1 10 270.84 - - 8 1 1 MID1|CCDS14138.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MID1|CCDS14138.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 2 10 2 0 0 ./. 1 4 1 5 13 21 13 21 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760577941 X 11118516 CT C 449 PASS - - - - - Del - D 11118516 11118526 1 21 433.345 - - 9 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 2 8 4 29 22 29 22 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578102 X 11922073 AT A 360 PASS - - - - - Del - D 11922073 11922082 1 15 325.008 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 2 7 3 36 26 36 26 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578119 X 11973021 CA C 329 PASS - - - - - Del - D 11973021 11973031 1 15 309.355 - - 9 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 2 4 4 25 28 25 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578212 X 12377116 CT C 360 PASS FRMPD4 CCDS35201.1 r.? - - Del intronic D 12377116 12377126 1 16 325.008 - - 9 1 1 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 3 4 8 11 26 11 26 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578287 X 12636768 GA G 900 PASS FRMPD4 CCDS35201.1 r.? - - Del intronic D 12636768 12636778 1 72 811.919 - - 9 1 1 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 8 7 11 9 30 25 30 25 11 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578316 X 12738852 AG A 360 PASS FRMPD4 CCDS35201.1 r.4676delG c.? p.? Del 3'UTR variant D 12738852 12738859 1 16 325.008 - - 6 1 1 FRMPD4|CCDS35201.1|r.4676delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 FRMPD4|ENST00000429478|r.4144delG|c.4144delG|p.S1384fs*11|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 3 5 3 18 21 18 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578493 X 13294924 C CA 360 PASS - - - - - Ins - I 13294924 13294931 1 12 321.396 - - 6 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 5 1 6 3 22 28 22 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578603 X 13710429 TA T 480 PASS RAB9A CCDS14156.1 r.? - - Del intronic D 13710429 13710437 1 25 428.528 - - 7 1 1 RAB9A|CCDS14156.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RAB9A|CCDS14156.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 4 6 8 23 21 23 21 6 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578709 X 13956957 A AC 389 PASS GPM6B CCDS48084.1 r.? - - Ins upstream I 13956957 13956965 1 20 373.758 - - 7 1 1 GPM6B|CCDS48084.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 GPM6B|CCDS48084.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 4 3 6 30 24 30 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578766 X 14158729 CT C 420 PASS - - - - - Del - D 14158729 14158737 1 18 379.176 - - 7 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 2 5 2 35 19 35 19 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578825 X 14490480 CT C 360 PASS - - - - - Del - D 14490480 14490490 1 15 325.008 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 4 3 5 28 30 28 30 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578829 X 14531689 T TA 540 PASS - - - - - Ins - I 14531689 14531697 1 28 481.492 - - 7 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 3 6 3 25 19 26 19 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578849 X 14620540 CT C 300 PASS GLRA2 CCDS48085.1 r.? - - Del intronic D 14620540 14620550 1 12 270.84 - - 9 1 1 GLRA2|CCDS48085.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLRA2|CCDS48085.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 2 3 3 3 22 32 22 32 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578853 X 14631855 GT G 480 PASS GLRA2 CCDS48085.1 r.? - - Del intronic D 14631855 14631864 1 21 433.345 - - 8 1 1 GLRA2|CCDS48085.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLRA2|CCDS48085.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 2 7 2 24 17 24 17 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578856 X 14643854 AT A 509 PASS GLRA2 CCDS48085.1 r.? - - Del intronic D 14643854 14643861 1 28 487.513 - - 6 1 1 GLRA2|CCDS48085.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLRA2|CCDS48085.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 3 8 3 30 21 30 21 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578874 X 14837488 GA G 480 PASS - - - - - Del - D 14837488 14837498 1 24 433.345 - - 9 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 5 3 5 4 28 21 28 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760578876 X 14853780 GA G 360 PASS - - - - - Del - D 14853780 14853789 1 15 325.008 - - 8 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 4 2 5 23 22 23 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579002 X 15392831 GA G 420 PASS FIGF CCDS14166.1 r.? - - Del intronic D 15392831 15392838 1 14 379.176 - - 6 1 1 FIGF|CCDS14166.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FIGF|CCDS14166.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 6 3 7 15 38 15 38 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579148 X 15855024 CA C 420 PASS AP1S2 CCDS14173.1 r.? - - Del intronic D 15855024 15855033 1 20 379.176 - - 8 1 1 AP1S2|CCDS14173.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AP1S2|CCDS14173.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 21 10 21 0 0 ./. 4 3 5 3 30 20 30 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579243 X 16365921 AT A 360 PASS - - - - - Del - D 16365921 16365931 1 12 325.008 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 5 2 5 23 28 23 28 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579351 X 16738052 AG A 358 PASS SYAP1 CCDS14177.1 r.? - - Del intronic D 16738052 16738061 1 20 377.972 - - 8 1 1 SYAP1|CCDS14177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYAP1|CCDS14177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 4 5 6 23 26 23 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579410 X 16903826 CA C 840 PASS - - - - - Del - D 16903826 16903834 1 63 749.924 - - 7 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 8 6 10 6 28 17 28 17 10 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579467 X 17052193 CT C 360 PASS REPS2 CCDS14180.2 r.? - - Del intronic D 17052193 17052203 1 7 324.406 - - 9 1 1 REPS2|CCDS14180.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 REPS2|CCDS14180.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 0 6 0 6 0 26 0 26 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579497 X 17170314 CT C 360 PASS REPS2 CCDS14180.2 r.6865delU c.? p.? Del 3'UTR variant D 17170314 17170319 1 15 325.008 - - 4 1 1 REPS2|CCDS14180.2|r.6865delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 REPS2|CCDS14180.2|r.6865delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 4 3 4 19 22 19 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579607 X 17766631 CT C 300 PASS SCML1 CCDS14182.2 r.? - - Del intronic D 17766631 17766641 1 12 270.84 - - 9 1 1 SCML1|CCDS14182.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCML1|CCDS14182.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 3 3 3 21 21 21 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579647 X 18064380 GT G 389 PASS - - - - - Del - D 18064380 18064388 1 20 379.176 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 4 4 7 21 16 21 16 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579715 X 18322654 TA T 360 PASS SCML2 CCDS14185.1 r.? - - Del intronic D 18322654 18322660 1 12 324.406 - - 5 1 1 SCML2|CCDS14185.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCML2|CCDS14185.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 1 5 3 5 24 26 24 26 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579932 X 18952801 CT C 420 PASS PHKA2 CCDS14190.1 r.? - - Del intronic D 18952801 18952808 1 18 378.574 - - 6 1 1 PHKA2|CCDS14190.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHKA2|CCDS14190.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 2 5 3 7 28 34 28 34 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760579989 X 19229187 T TG 300 PASS - - - - - Ins - I 19229187 19229195 1 10 263.014 - - 7 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 4 1 4 16 34 16 34 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580038 X 19433196 TA T 360 PASS MAP3K15 CCDS35212.1 r.? - - Del intronic D 19433196 19433206 1 15 325.008 - - 9 1 1 MAP3K15|CCDS35212.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAP3K15|CCDS35212.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 2 5 7 24 27 24 27 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580091 X 19589117 A AT 540 PASS SH3KBP1 CCDS14193.1 r.? - - Ins intronic I 19589117 19589123 1 24 479.686 - - 5 1 1 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 8 18 8 0 0 ./. 2 7 3 7 20 30 21 32 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580152 X 19894734 TA T 360 PASS SH3KBP1 CCDS14193.1 r.? - - Del intronic D 19894734 19894741 1 16 325.008 - - 6 1 1 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 3 4 3 33 44 33 44 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580155 X 19908075 AT A 360 PASS SH3KBP1 CCDS14193.1 r.? - - Del upstream D 19908075 19908084 1 16 325.008 - - 8 1 1 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 3 4 3 25 20 25 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580326 X 20958263 AT A 300 PASS - - - - - Del - D 20958263 20958273 1 12 270.84 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 4 6 39 35 39 35 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580361 X 21073639 GA G 480 PASS - - - - - Del - D 21073639 21073645 1 16 433.345 - - 5 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 1 7 1 7 10 28 10 28 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580374 X 21216257 TA T 360 PASS - - - - - Del - D 21216257 21216266 1 15 325.008 - - 8 1 1 - - ./. 0 0 0 0 7 20 7 20 0 0 ./. 2 4 4 6 21 31 21 31 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580376 X 21249920 CA C 276 PASS - - - - - Del - D 21249920 21249928 1 12 270.84 - - 7 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 2 4 2 26 24 26 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580388 X 21358423 AC A 285 PASS - - - - - Del - D 21358423 21358430 1 12 270.84 - - 6 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 2 4 3 27 26 27 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580414 X 21661913 CT C 540 PASS CNKSR2 CCDS14198.1 r.? - - Del intronic D 21661913 21661923 1 28 485.706 - - 9 1 1 CNKSR2|CCDS14198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNKSR2|CCDS14198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 6 3 6 5 17 18 17 18 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580452 X 21860708 G GC 360 PASS MBTPS2 CCDS14201.1 r.? - - Ins intronic I 21860708 21860717 1 15 321.396 - - 8 1 1 MBTPS2|CCDS14201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MBTPS2|CCDS14201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 13 0 0 ./. 2 4 4 5 12 22 12 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580652 X 22408752 CT C 300 PASS - - - - - Del - D 22408752 22408757 1 10 270.84 - - 4 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 1 4 1 5 26 29 26 29 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580721 X 22623030 GA G 360 PASS - - - - - Del - D 22623030 22623038 1 15 325.008 - - 7 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 2 4 2 4 19 18 19 18 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760580954 X 23660384 AAC A 360 PASS - - - - - Del - D 23660384 23660402 2 16 325.008 - - 8 1 - - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 3 3 4 3 11 19 11 19 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760581172 X 24069382 GT G 271 PASS EIF2S3 CCDS14210.1 r.? - - Del upstream D 24069382 24069392 1 10 269.636 - - 9 1 1 EIF2S3|CCDS14210.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 EIF2S3|CCDS14210.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 10 15 10 0 0 ./. 1 4 4 5 27 30 27 30 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760581510 X 25184384 TA T 420 PASS - - - - - Del - D 25184384 25184393 1 14 379.176 - - 8 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 6 2 6 10 17 10 17 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760581546 X 25423398 C CA 360 PASS - - - - - Ins - I 25423398 25423402 1 15 321.396 - - 3 1 1 - - ./. 0 0 0 0 15 12 15 13 0 0 ./. 2 4 2 4 14 22 14 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760581597 X 25680834 AT A 540 PASS - - - - - Del - D 25680834 25680841 1 30 487.513 - - 6 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 4 7 4 29 19 29 19 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760581669 X 25913968 AG A 662 PASS - - - - - Del - D 25913968 25913974 1 48 649.415 - - 5 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 7 6 7 25 27 25 27 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760581816 X 26744429 TAGAG T 269 PASS - - - - - Del - D 26744429 26744441 4 10 270.84 - - 5 1 - - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 1 4 2 5 22 37 22 37 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760581837 X 26875100 TTC T 600 PASS - - - - - Del - D 26875100 26875119 2 32 540.477 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 7 4 8 29 31 29 31 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582013 X 27517043 C CTA 300 PASS - - - - - Ins - I 27517043 27517051 2 12 264.82 - - 3 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 4 3 30 27 30 27 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582075 X 27846473 C CA 360 PASS - - - - - Ins - I 27846473 27846481 1 16 321.396 - - 7 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 3 5 3 25 20 25 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582109 X 28121458 G GT 300 PASS - - - - - Ins - I 28121458 28121465 1 12 267.83 - - 6 1 1 - - ./. 0 0 0 0 15 19 16 19 0 0 ./. 3 2 4 4 32 27 32 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582112 X 28140899 CT C 360 PASS - - - - - Del - D 28140899 28140908 1 16 325.008 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 3 4 28 22 28 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582166 X 28339063 G GT 360 PASS - - - - - Ins - I 28339063 28339072 1 15 314.171 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 4 5 6 35 28 35 28 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582232 X 28610738 GT G 360 PASS IL1RAPL1 CCDS14218.1 r.? - - Del intronic D 28610738 28610744 1 15 325.008 - - 5 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 2 4 2 23 19 23 19 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582281 X 28856767 CT C 420 PASS IL1RAPL1 CCDS14218.1 r.? - - Del intronic D 28856767 28856776 1 14 379.176 - - 8 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 1 6 1 6 4 26 4 26 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582332 X 29023361 C CA 420 PASS IL1RAPL1 CCDS14218.1 r.? - - Ins intronic I 29023361 29023369 1 20 374.962 - - 7 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 11 14 0 0 ./. 4 3 4 6 26 25 26 25 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582347 X 29104464 C CA 300 PASS IL1RAPL1 CCDS14218.1 r.? - - Ins intronic I 29104464 29104468 1 12 267.83 - - 3 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 23 14 23 0 0 ./. 3 2 3 3 16 23 16 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582475 X 29654194 C CA 300 PASS IL1RAPL1 CCDS14218.1 r.? - - Ins intronic I 29654194 29654204 1 12 267.83 - - 9 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 3 2 7 2 36 7 36 7 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582518 X 29788463 CT C 420 PASS IL1RAPL1 CCDS14218.1 r.? - - Del intronic D 29788463 29788473 1 18 379.176 - - 9 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 2 7 2 22 26 22 26 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582544 X 29940424 G GA 420 PASS IL1RAPL1 CCDS14218.1 r.? - - Ins intronic I 29940424 29940432 1 14 374.962 - - 7 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 6 1 8 1 29 12 29 12 8 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582577 X 30053333 AT A 420 PASS - - - - - Del - D 30053333 30053341 1 18 377.37 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 5 3 6 19 24 19 24 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582624 X 30264007 G GT 360 PASS MAGEB4 CCDS14221.1 r.? - - Ins downstream I 30264007 30264015 1 12 321.396 - - 7 1 1 MAGEB4|CCDS14221.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MAGEB1|CCDS14222.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 1 6 3 21 33 22 33 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582655 X 30432894 C CA 360 PASS - - - - - Ins - I 30432894 30432903 1 15 320.192 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 4 3 4 19 29 19 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582706 X 30659757 T TAC 540 PASS - - - - - Ins - I 30659757 30659769 2 28 476.073 - - 5 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 6 5 7 27 34 27 34 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582867 X 31158435 CT C 360 PASS DMD CCDS14233.1 r.? - - Del intronic D 31158435 31158444 1 15 323.804 - - 8 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 2 6 2 32 33 32 33 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582979 X 31545232 CA C 480 PASS DMD CCDS14233.1 r.? - - Del intronic D 31545232 31545241 1 21 433.345 - - 8 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 13 3 13 0 0 ./. 6 2 8 3 29 25 29 25 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760582999 X 31627251 CT C 300 PASS DMD CCDS14233.1 r.? - - Del intronic D 31627251 31627261 1 12 270.84 - - 9 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 2 3 3 20 24 20 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583112 X 32097776 GA G 360 PASS DMD CCDS14233.1 r.? - - Del intronic D 32097776 32097786 1 15 324.406 - - 9 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 4 4 5 37 25 37 25 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583123 X 32152612 CT C 360 PASS DMD CCDS14233.1 r.? - - Del intronic D 32152612 32152622 1 15 325.008 - - 9 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 4 3 5 16 24 16 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583186 X 32386443 AT A 480 PASS DMD CCDS14233.1 r.? - - Del intronic D 32386443 32386453 1 25 433.345 - - 9 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 4 4 4 7 23 29 23 29 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583307 X 32916126 TA T 360 PASS DMD CCDS14233.1 r.? - - Del intronic D 32916126 32916131 1 15 325.008 - - 4 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 4 2 8 3 40 13 40 13 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583358 X 33107644 CA C 360 PASS DMD CCDS14233.1 r.? - - Del intronic D 33107644 33107654 1 16 323.804 - - 9 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 3 4 3 13 21 13 21 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583415 X 33291027 A AT 480 PASS DMD ENST00000288447 r.? - - Ins intronic I 33291027 33291031 1 16 426.12 - - 3 1 1 DMD|ENST00000288447|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DMD|ENST00000288447|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 7 1 10 2 43 24 43 25 10 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583527 X 33842725 GT G 300 PASS - - - - - Del - D 33842725 33842734 1 10 270.84 - - 8 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 4 1 7 2 32 11 32 11 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583608 X 34353083 AT A 420 PASS - - - - - Del - D 34353083 34353091 1 14 379.176 - - 7 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 6 1 7 3 27 10 27 10 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583618 X 34403061 TA T 360 PASS - - - - - Del - D 34403061 34403070 1 15 325.008 - - 8 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 2 4 2 6 16 16 16 16 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583667 X 34600323 TA T 360 PASS - - - - - Del - D 34600323 34600333 1 16 325.008 - - 9 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 3 4 4 17 14 17 14 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583671 X 34634108 CA C 360 PASS - - - - - Del - D 34634108 34634117 1 16 325.008 - - 8 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 3 3 4 4 22 19 22 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583683 X 34683177 TC T 360 PASS - - - - - Del - D 34683177 34683183 1 15 325.008 - - 5 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 2 4 2 23 24 23 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583691 X 34742869 G GA 300 PASS - - - - - Ins - I 34742869 34742878 1 10 267.228 - - 8 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 1 4 2 35 11 35 11 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583694 X 34754923 GT G 809 PASS - - - - - Del - D 34754923 34754933 1 60 758.353 - - 9 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 9 9 9 34 35 34 35 9 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583895 X 35791359 GA G 420 PASS - - - - - Del - D 35791359 35791367 1 20 374.962 - - 7 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 3 4 3 21 13 21 13 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583918 X 35914514 G GT 420 PASS - - - - - Ins - I 35914514 35914521 1 20 374.962 - - 6 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 3 6 3 33 26 33 26 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760583966 X 36186690 AT A 360 PASS - - - - - Del - D 36186690 36186700 1 16 325.008 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 4 4 18 18 18 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760584098 X 36916741 C CA 300 PASS - - - - - Ins - I 36916741 36916747 1 10 267.228 - - 5 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 1 4 2 25 24 25 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760584116 X 36987938 AT A 360 PASS - - - - - Del - D 36987938 36987944 1 15 325.008 - - 5 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 4 2 4 3 25 17 25 17 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760584128 X 37164776 GT G 679 PASS - - - - - Del - D 37164776 37164786 1 49 650.017 - - 9 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 6 6 9 10 28 36 28 36 9 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760584134 X 37207062 CAT C 300 PASS PRRG1 CCDS14239.1 r.? - - Del upstream D 37207062 37207067 2 10 270.84 - - 2 1 1 PRRG1|CCDS14239.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PRRG1|CCDS14239.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 4 1 5 26 31 26 31 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760584234 X 37913442 AT A 449 PASS SYTL5 CCDS14244.1 r.? - - Del intronic D 37913442 37913451 1 25 431.538 - - 8 1 1 SYTL5|CCDS14244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYTL5|CCDS14244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 4 4 5 22 24 22 24 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760584362 X 38480931 CT C 300 PASS TSPAN7 CCDS14248.1 r.? - - Del intronic D 38480931 38480940 1 12 270.84 - - 8 1 1 TSPAN7|CCDS14248.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSPAN7|CCDS14248.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 2 3 2 13 27 13 27 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760584615 X 39839235 TG T 360 PASS - - - - - Del - D 39839235 39839240 1 12 323.202 - - 4 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 1 5 1 25 17 25 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760584726 X 40125134 GC G 360 PASS - - - - - Del - D 40125134 40125143 1 16 321.396 - - 8 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 3 5 3 18 24 18 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760584912 X 40749112 T TAC 300 PASS - - - - - Ins - I 40749112 40749132 2 6 264.82 - - 9 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 5 0 6 1 25 19 26 19 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585250 X 41630105 GA G 360 PASS CASK CCDS48095.1 r.? - - Del intronic D 41630105 41630115 1 7 325.008 - - 9 1 1 CASK|CCDS48095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CASK|CCDS48095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 0 6 1 28 6 28 6 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585261 X 41683447 GA G 360 PASS CASK CCDS48095.1 r.? - - Del intronic D 41683447 41683456 1 15 325.008 - - 8 1 1 CASK|CCDS48095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CASK|CCDS48095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 2 7 2 28 26 28 26 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585310 X 41859841 CT C 389 PASS - - - - - Del - D 41859841 41859847 1 18 379.176 - - 5 1 1 - - ./. 0 0 0 0 20 11 20 11 0 0 ./. 5 2 6 4 32 27 32 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585317 X 41897495 TA T 269 PASS - - - - - Del - D 41897495 41897505 1 6 270.238 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 0 5 0 5 2 31 2 31 0 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585319 X 41903245 CT C 629 PASS - - - - - Del - D 41903245 41903255 1 30 593.44 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 9 2 10 28 38 28 38 2 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585338 X 42002180 TA T 420 PASS - - - - - Del - D 42002180 42002189 1 20 379.176 - - 8 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 3 4 5 25 16 25 16 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585373 X 42200855 AT A 298 PASS - - - - - Del - D 42200855 42200864 1 15 321.396 - - 8 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 2 4 3 28 23 28 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585392 X 42331152 TG T 689 PASS - - - - - Del - D 42331152 42331154 1 24 644.598 - - 1 1 1 - - ./. 0 0 0 0 25 13 25 13 0 0 ./. 1 11 1 11 21 29 21 29 1 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585445 X 42672864 C CA 269 PASS - - - - - Ins - I 42672864 42672871 1 12 267.83 - - 6 1 1 - - ./. 0 0 0 0 12 11 12 12 0 0 ./. 3 2 4 2 29 20 29 20 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585486 X 42806941 TA T 360 PASS - - - - - Del - D 42806941 42806950 1 15 325.008 - - 8 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 4 2 4 28 23 28 23 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585522 X 42977008 CT C 420 PASS - - - - - Del - D 42977008 42977017 1 18 377.972 - - 8 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 2 5 3 7 14 35 14 35 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585581 X 43339252 GT G 480 PASS - - - - - Del - D 43339252 43339261 1 24 432.742 - - 8 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 5 3 5 23 35 23 35 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585631 X 43470263 TTGTC T 358 PASS - - - - - Del - D 43470263 43470271 4 20 379.176 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 4 4 5 27 21 27 21 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585633 X 43476976 CA C 300 PASS - - - - - Del - D 43476976 43476986 1 12 270.84 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 3 4 17 17 17 17 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585706 X 43970490 AT A 420 PASS - - - - - Del - D 43970490 43970494 1 14 370.748 - - 3 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 1 7 2 32 14 32 14 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585782 X 44263221 A AT 420 PASS - - - - - Ins - I 44263221 44263231 1 20 374.962 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 4 3 4 25 32 25 32 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585783 X 44273899 GT G 360 PASS - - - - - Del - D 44273899 44273907 1 16 324.406 - - 7 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 3 4 4 17 20 17 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760585999 X 44850337 CT C 360 PASS KDM6A CCDS14265.1 r.? - - Del intronic D 44850337 44850344 1 15 325.008 - - 6 1 1 KDM6A|CCDS14265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KDM6A|CCDS14265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 2 8 2 23 19 23 19 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760586126 X 45569358 CCT C 480 PASS - - - - - Del - D 45569358 45569374 2 25 432.742 - - 7 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 4 5 5 27 19 27 19 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760586172 X 45724491 C CT 360 PASS - - - - - Ins - I 45724491 45724500 1 12 321.396 - - 8 1 1 - - ./. 0 0 0 0 11 3 11 3 0 0 ./. 5 1 7 1 34 23 34 23 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760586233 X 46004417 C CA 420 PASS - - - - - Ins - I 46004417 46004425 1 18 374.962 - - 7 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 2 5 2 5 12 22 12 22 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760586471 X 46776191 AC A 300 PASS PHF16 CCDS14271.1 r.? - - Del intronic D 46776191 46776197 1 10 270.84 - - 5 1 1 PHF16|CCDS14271.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PHF16|CCDS14271.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 1 5 1 30 25 30 25 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760586477 X 46794032 CT C 480 PASS PHF16 CCDS14271.1 r.? - - Del intronic D 46794032 46794042 1 21 433.345 - - 9 1 1 PHF16|CCDS14271.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PHF16|CCDS14271.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 6 5 8 10 29 10 29 5 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760586599 X 47168134 CT C 269 PASS - - - - - Del - D 47168134 47168144 1 10 270.84 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 4 1 6 23 21 23 21 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760586746 X 47512679 GA G 360 PASS ELK1 CCDS14283.1 r.? - - Del upstream D 47512679 47512688 1 15 325.008 - - 8 1 1 ELK1|CCDS14283.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 UXT|CCDS14284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 2 6 2 37 21 37 21 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760586787 X 47786095 TA T 300 PASS ZNF81 CCDS43933.1 r.? - - Del downstream D 47786095 47786104 1 10 270.84 - - 8 1 1 ZNF81|CCDS43933.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF81|ENST00000376950|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 1 6 1 28 7 28 7 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760586839 X 47973877 AG A 352 PASS SSX6 ENST00000304314 r.? - - Del intronic D 47973877 47973883 1 18 379.176 - - 5 1 1 SSX6|ENST00000304314|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SSX6|ENST00000304314|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 5 2 8 2 27 15 27 15 8 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587105 X 48718215 T TA 480 PASS - - - - - Ins - I 48718215 48718224 1 25 428.528 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 4 6 5 28 34 28 34 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587133 X 48819729 T TG 300 PASS KCND1 CCDS14314.1 r.3354_3355insc c.? p.? Ins 3'UTR variant I 48819729 48819738 1 12 267.228 - - 8 1 1 KCND1|CCDS14314.1|r.3354_3355insc|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 KCND1|CCDS14314.1|r.3354_3355insc|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 4 5 27 35 28 35 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587308 X 49683670 GT G 540 PASS CLCN5 CCDS14328.1 r.? - - Del upstream D 49683670 49683680 1 30 487.513 - - 9 1 1 CLCN5|CCDS14328.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CLCN5|CCDS14328.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 5 6 5 30 26 30 26 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587328 X 49819352 A AT 420 PASS CLCN5 CCDS14328.1 r.? - - Ins intronic I 49819352 49819361 1 18 372.554 - - 8 1 1 CLCN5|CCDS14328.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CLCN5|CCDS14328.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 5 3 6 26 30 28 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587441 X 50505490 G GT 540 PASS SHROOM4 CCDS35277.1 r.? - - Ins intronic I 50505490 50505499 1 24 482.094 - - 8 1 1 SHROOM4|CCDS35277.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SHROOM4|CCDS35277.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 7 2 8 3 23 8 23 8 8 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587488 X 50711421 CT C 360 PASS - - - - - Del - D 50711421 50711429 1 16 325.008 - - 7 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 3 4 5 20 11 20 11 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587518 X 50890440 CA C 300 PASS - - - - - Del - D 50890440 50890450 1 10 270.84 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 1 4 1 18 10 18 10 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587542 X 51019962 T TG 540 PASS - - - - - Ins - I 51019962 51019969 1 30 479.686 - - 6 1 1 - - ./. 0 0 0 0 4 11 4 12 0 0 ./. 5 4 6 7 25 32 25 32 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587638 X 51533880 CT C 360 PASS - - - - - Del - D 51533880 51533888 1 12 325.008 - - 7 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 5 1 6 1 18 13 18 13 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587666 X 51637595 AG A 360 PASS MAGED1 CCDS35279.1 r.? - - Del intronic D 51637595 51637603 1 7 325.008 - - 7 1 1 MAGED1|CCDS35279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGED1|CCDS35279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 0 6 1 8 14 25 14 25 1 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587809 X 52886648 CA C 480 PASS XAGE3 CCDS14347.1 r.? - - Del downstream D 52886648 52886658 1 21 430.936 - - 9 1 1 XAGE3|CCDS14347.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 XAGE3|CCDS14347.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 6 5 9 22 28 22 28 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587825 X 52952917 CA C 300 PASS - - - - - Del - D 52952917 52952923 1 12 270.84 - - 5 1 1 - - ./. 0 0 0 0 20 8 20 8 0 0 ./. 3 2 4 5 17 39 17 39 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587870 X 53109593 AT A 600 PASS GPR173 CCDS14349.1 r.3894delU c.? p.? Del 3'UTR variant D 53109593 53109603 1 35 541.681 - - 9 1 1 GPR173|CCDS14349.1|r.3894delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 GPR173|CCDS14349.1|r.3894delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 6 8 7 24 33 24 33 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587885 X 53150663 GT G 360 PASS - - - - - Del - D 53150663 53150671 1 12 325.008 - - 7 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 1 7 3 29 30 29 30 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760587894 X 53163558 AT A 300 PASS - - - - - Del - D 53163558 53163564 1 12 265.422 - - 5 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 3 2 4 2 28 39 28 39 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588208 X 54160481 TA T 480 PASS FAM120C CCDS14356.1 r.1674-3delu c.1617-3delt p.? Del splice region D 54160481 54160488 1 25 433.345 - - 6 1 1 FAM120C|CCDS14356.1|r.1674-3delu|c.1617-3delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 FAM120C|CCDS14356.1|r.1674-3delu|c.1617-3delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 4 6 5 24 20 24 20 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588373 X 54624002 GC G 300 PASS - - - - - Del - D 54624002 54624010 1 12 270.84 - - 7 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 5 4 25 25 25 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588386 X 54666470 AG A 360 PASS - - - - - Del - D 54666470 54666476 1 15 323.804 - - 5 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 4 2 5 24 27 24 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588393 X 54706526 TA T 360 PASS - - - - - Del - D 54706526 54706534 1 12 325.008 - - 7 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 5 1 7 2 32 19 32 19 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588401 X 54770183 GT G 300 PASS - - - - - Del - D 54770183 54770193 1 12 270.238 - - 9 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 3 2 3 2 23 25 23 25 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588409 X 54807907 GA G 360 PASS ITIH5L CCDS14361.1 r.? - - Del intronic D 54807907 54807915 1 15 325.008 - - 7 1 1 ITIH5L|CCDS14361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITIH5L|CCDS14361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 15 25 15 0 0 ./. 2 4 2 4 22 24 22 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588423 X 54895947 CT C 360 PASS - - - - - Del - D 54895947 54895956 1 7 325.008 - - 8 1 1 - - ./. 0 0 0 0 4 16 4 16 0 0 ./. 6 0 6 0 29 1 29 1 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588431 X 54959025 C CA 577 PASS TRO CCDS43959.1 r.? - - Ins downstream I 54959025 54959035 1 36 530.242 - - 9 1 1 TRO|CCDS43959.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TRO|CCDS43959.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 15 17 15 17 0 0 ./. 5 5 5 6 29 24 30 24 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588555 X 55662897 GT G 300 PASS - - - - - Del - D 55662897 55662906 1 12 270.84 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 4 4 30 19 30 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588692 X 56208221 CT C 720 PASS - - - - - Del - D 56208221 56208223 1 33 646.404 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 10 7 10 23 37 23 37 7 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588809 X 56769694 GT G 300 PASS - - - - - Del - D 56769694 56769704 1 12 270.84 - - 9 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 2 4 3 25 26 25 26 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588908 X 57178299 GT G 372 PASS - - - - - Del - D 57178299 57178306 1 48 650.017 - - 6 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 7 5 10 6 34 36 34 36 10 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760588916 X 57214928 T TA 300 PASS - - - - - Ins - I 57214928 57214937 1 10 267.83 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 1 4 3 5 25 23 27 23 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589017 X 57626977 AT A 300 PASS ZXDB CCDS35313.1 r.? - - Del downstream D 57626977 57626985 1 12 270.84 - - 7 1 1 ZXDB|CCDS35313.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AL031115.1|ENST00000506499|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 4 4 23 18 23 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589082 X 58053207 C CA 420 PASS - - - - - Ins - I 58053207 58053215 1 18 374.962 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 2 5 5 21 24 21 24 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589084 X 58067231 AC A 660 PASS - - - - - Del - D 58067231 58067239 1 42 592.838 - - 7 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 6 5 8 5 21 25 21 25 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589093 X 58173234 GA G 360 PASS - - - - - Del - D 58173234 58173244 1 15 325.008 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 4 5 5 23 20 23 20 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589101 X 58210454 CT C 300 PASS - - - - - Del - D 58210454 58210463 1 12 270.84 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 3 3 24 30 24 30 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589108 X 58299736 GA G 300 PASS - - - - - Del - D 58299736 58299744 1 6 270.84 - - 7 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 5 0 10 0 32 23 32 23 10 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589125 X 58438872 A AT 360 PASS - - - - - Ins - I 58438872 58438879 1 16 321.396 - - 6 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 3 9 6 33 33 33 33 9 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589232 X 61926605 CA C 540 PASS - - - - - Del - D 61926605 61926612 1 30 487.513 - - 6 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 5 5 5 27 26 27 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589242 X 61970419 CA C 360 PASS - - - - - Del - D 61970419 61970428 1 16 325.008 - - 8 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 3 6 4 29 27 29 27 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589264 X 62169914 CA C 488 PASS - - - - - Del - D 62169914 62169924 1 24 486.308 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 7 3 9 15 35 15 35 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589335 X 62790409 TA T 300 PASS - - - - - Del - D 62790409 62790416 1 10 270.84 - - 6 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 1 4 1 5 6 24 6 24 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589346 X 62919089 CT C 300 PASS ARHGEF9 CCDS35315.1 r.? - - Del intronic D 62919089 62919098 1 12 264.82 - - 8 1 1 ARHGEF9|CCDS35315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGEF9|CCDS35315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 3 5 4 26 20 26 20 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589361 X 63065867 C CAT 480 PASS - - - - - Ins - I 63065867 63065880 2 24 423.712 - - 6 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 5 3 6 29 28 29 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589439 X 63674021 G GT 420 PASS - - - - - Ins - I 63674021 63674029 1 20 374.962 - - 7 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 4 4 4 20 30 20 30 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589500 X 64228083 CA C 420 PASS ZC4H2 ENST00000337990 r.? - - Del intronic D 64228083 64228093 1 18 379.176 - - 9 1 1 ZC4H2|ENST00000337990|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZC4H2|ENST00000337990|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 5 2 5 24 20 24 20 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589548 X 64515789 TA T 300 PASS - - - - - Del - D 64515789 64515799 1 10 270.84 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 1 5 1 33 11 33 11 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589551 X 64524193 CA C 300 PASS - - - - - Del - D 64524193 64524203 1 10 270.84 - - 9 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 4 1 6 9 29 31 29 31 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589552 X 64528198 CA C 360 PASS - - - - - Del - D 64528198 64528207 1 15 325.008 - - 8 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 4 2 5 2 25 9 25 9 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589590 X 64740281 C CA 420 PASS LAS1L CCDS14381.1 r.? - - Ins intronic I 64740281 64740289 1 20 371.952 - - 7 1 1 LAS1L|CCDS14381.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LAS1L|CCDS14381.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 14 13 0 0 ./. 3 4 5 6 31 24 31 25 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589624 X 64883202 GA G 420 PASS MSN CCDS14382.1 r.? - - Del upstream D 64883202 64883212 1 18 379.176 - - 9 1 1 MSN|CCDS14382.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 MSN|CCDS14382.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 22 13 22 0 0 ./. 2 5 3 5 28 19 28 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589642 X 65041155 CT C 480 PASS - - - - - Del - D 65041155 65041163 1 24 433.345 - - 7 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 5 6 5 32 23 32 23 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589694 X 65332309 C CA 360 PASS - - - - - Ins - I 65332309 65332316 1 16 320.794 - - 6 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 3 6 15 31 15 31 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589718 X 65460740 G GA 300 PASS HEPH CCDS14384.2 r.? - - Ins intronic I 65460740 65460747 1 10 267.83 - - 6 1 1 HEPH|CCDS14384.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HEPH|CCDS14384.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 14 5 14 0 0 ./. 4 1 6 1 24 4 24 4 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589800 X 65808495 CT C 329 PASS - - - - - Del - D 65808495 65808503 1 15 325.008 - - 7 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 2 4 2 6 26 22 26 22 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589871 X 66225251 GA G 360 PASS - - - - - Del - D 66225251 66225259 1 15 325.008 - - 7 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 4 2 5 5 28 14 28 14 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589935 X 66609945 CA C 600 PASS - - - - - Del - D 66609945 66609953 1 36 540.477 - - 7 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 5 5 5 5 27 28 27 28 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589967 X 66832790 CT C 780 PASS AR CCDS14387.1 r.? - - Del intronic D 66832790 66832799 1 54 702.379 - - 8 1 1 AR|CCDS14387.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AR|CCDS14387.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 8 6 9 19 40 19 40 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760589970 X 66868256 ACT A 420 PASS AR CCDS14387.1 r.? - - Del intronic D 66868256 66868263 2 20 379.176 - - 3 1 1 AR|CCDS14387.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AR|CCDS14387.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 4 3 4 29 22 29 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590107 X 67535149 CAG C 371 PASS OPHN1 CCDS14388.1 r.? - - Del intronic D 67535149 67535163 2 20 379.176 - - 6 1 1 OPHN1|CCDS14388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OPHN1|CCDS14388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 4 3 5 5 23 23 23 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590147 X 67649401 TA T 360 PASS OPHN1 CCDS14388.1 r.? - - Del intronic D 67649401 67649410 1 15 325.008 - - 8 1 1 OPHN1|CCDS14388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OPHN1|CCDS14388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 4 3 4 32 29 32 29 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590258 X 68205482 TG T 300 PASS - - - - - Del - D 68205482 68205489 1 12 264.218 - - 6 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 2 3 2 13 13 13 13 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590292 X 68443364 GA G 420 PASS - - - - - Del - D 68443364 68443373 1 20 377.972 - - 8 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 3 7 4 36 27 36 27 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590347 X 68658029 T TA 300 PASS - - - - - Ins - I 68658029 68658033 1 6 267.83 - - 3 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 0 5 0 28 1 28 1 5 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590393 X 68846713 GT G 360 PASS EDA CCDS14394.1 r.? - - Del intronic D 68846713 68846722 1 16 325.008 - - 8 1 1 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 3 6 3 17 14 17 14 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590488 X 69162723 AT A 480 PASS EDA CCDS14394.1 r.? - - Del intronic D 69162723 69162731 1 24 433.345 - - 7 1 1 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 3 5 3 29 24 29 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590499 X 69222832 C CA 420 PASS EDA CCDS14394.1 r.? - - Ins intronic I 69222832 69222838 1 20 374.962 - - 5 1 1 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 4 4 5 28 33 28 33 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590624 X 69663361 G GT 540 PASS DLG3 CCDS14403.1 r.? - - Ins upstream I 69663361 69663365 1 30 480.89 - - 3 1 1 DLG3|CCDS14403.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 DLG3|CCDS14403.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 4 5 4 26 24 26 24 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590700 X 69979162 C CA 300 PASS TEX11 CCDS35323.1 r.? - - Ins intronic I 69979162 69979170 1 10 267.83 - - 7 1 1 TEX11|CCDS35323.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TEX11|CCDS35323.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 4 1 4 1 39 30 39 30 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590766 X 70190616 TA T 420 PASS - - - - - Del - D 70190616 70190623 1 18 379.176 - - 6 1 1 - - ./. 0 0 0 0 21 14 21 14 0 0 ./. 2 5 3 6 18 28 18 28 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590779 X 70215748 A AT 420 PASS - - - - - Ins - I 70215748 70215758 1 20 374.962 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 3 5 4 15 29 15 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590790 X 70232747 AT A 300 PASS - - - - - Del - D 70232747 70232757 1 6 270.84 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 15 0 0 ./. 0 5 0 7 2 34 2 37 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590804 X 70275240 CA C 420 PASS SNX12 CCDS14405.1 r.? - - Del downstream D 70275240 70275247 1 20 379.176 - - 6 1 1 SNX12|CCDS14405.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SNX12|CCDS14405.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 4 6 5 26 21 26 21 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590893 X 70515337 CA C 300 PASS NONO CCDS14410.1 r.? - - Del intronic D 70515337 70515347 1 10 264.218 - - 9 1 1 NONO|CCDS14410.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NONO|CCDS14410.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 1 4 2 29 25 29 25 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590942 X 70632281 AT A 329 PASS TAF1 CCDS35325.1 r.? - - Del intronic D 70632281 70632291 1 16 325.008 - - 9 1 1 TAF1|CCDS35325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TAF1|CCDS35325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 3 4 4 35 19 35 19 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590980 X 70759212 AT A 300 PASS OGT CCDS14414.1 r.? - - Del intronic D 70759212 70759222 1 12 270.84 - - 9 1 1 OGT|CCDS14414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OGT|CCDS14414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 3 4 23 22 23 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760590998 X 70821385 G GT 420 PASS ACRC CCDS35326.1 r.? - - Ins intronic I 70821385 70821395 1 20 372.554 - - 9 1 - ACRC|CCDS35326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACRC|CCDS35326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 4 3 7 21 32 21 32 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591221 X 71729605 CT C 420 PASS HDAC8 CCDS14420.1 r.? - - Del intronic D 71729605 71729615 1 18 379.176 - - 9 1 1 HDAC8|CCDS14420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HDAC8|CCDS14420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 5 3 7 27 30 27 30 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591223 X 71737309 CT C 300 PASS HDAC8 CCDS14420.1 r.? - - Del intronic D 71737309 71737319 1 12 270.84 - - 9 1 1 HDAC8|CCDS14420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HDAC8|CCDS14420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 2 4 2 23 21 23 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591250 X 71923364 CA C 300 PASS PHKA1 CCDS48137.1 r.? - - Del intronic D 71923364 71923374 1 12 270.84 - - 9 1 1 PHKA1|CCDS48137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHKA1|CCDS48137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 2 3 3 3 15 23 15 23 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591360 X 72612162 AT A 720 PASS - - - - - Del - D 72612162 72612172 1 45 647.609 - - 9 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 8 8 8 27 32 27 32 8 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591400 X 72901985 GA G 660 PASS CHIC1 CCDS35335.2 r.1898delA c.? p.? Del 3'UTR variant D 72901985 72901994 1 40 595.849 - - 8 1 1 CHIC1|CCDS35335.2|r.1898delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CHIC1|CCDS35335.2|r.1898delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 15 13 15 0 0 ./. 7 4 8 5 32 37 32 37 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591428 X 73042268 AT A 540 PASS - - - - - Del - D 73042268 73042276 1 30 487.513 - - 7 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 5 8 7 37 36 37 36 8 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591649 X 73797674 AT A 300 PASS - - - - - Del - D 73797674 73797684 1 12 270.84 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 2 4 2 37 24 37 24 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591689 X 74023912 CA C 600 PASS KIAA2022 CCDS35337.1 r.? - - Del intronic D 74023912 74023919 1 35 541.681 - - 6 1 1 KIAA2022|CCDS35337.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA2022|CCDS35337.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 6 5 6 25 26 25 26 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591694 X 74072843 G GT 480 PASS KIAA2022 CCDS35337.1 r.? - - Ins intronic I 74072843 74072852 1 24 428.528 - - 8 1 1 KIAA2022|CCDS35337.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KIAA2022|CCDS35337.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 5 3 5 36 21 36 21 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591773 X 74509056 CA C 420 PASS UPRT CCDS14429.1 r.? - - Del intronic D 74509056 74509064 1 18 379.176 - - 7 1 1 UPRT|CCDS14429.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UPRT|CCDS14429.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 2 6 3 24 27 24 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591841 X 74824061 C CT 300 PASS - - - - - Ins - I 74824061 74824070 1 10 263.014 - - 8 1 1 - - ./. 0 0 0 0 16 19 17 19 0 0 ./. 4 1 6 2 29 30 29 30 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591928 X 75300065 C CA 300 PASS - - - - - Ins - I 75300065 75300073 1 12 264.82 - - 7 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 2 3 2 4 28 27 28 27 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760591979 X 75516530 AT A 480 PASS - - - - - Del - D 75516530 75516538 1 24 433.345 - - 7 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 3 5 6 5 28 31 28 31 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592044 X 75860194 AT A 300 PASS - - - - - Del - D 75860194 75860200 1 12 270.84 - - 5 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 4 3 24 20 24 20 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592100 X 76250278 C CT 337 PASS - - - - - Ins - I 76250278 76250287 1 15 320.794 - - 8 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 2 4 5 5 32 32 32 32 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592119 X 76302796 C CA 300 PASS - - - - - Ins - I 76302796 76302806 1 10 266.024 - - 9 1 1 - - ./. 0 0 0 0 8 12 9 12 0 0 ./. 1 4 2 4 25 26 25 26 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592146 X 76442434 CA C 300 PASS - - - - - Del - D 76442434 76442444 1 12 270.84 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 2 6 3 26 25 26 25 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592173 X 76546388 C CA 540 PASS - - - - - Ins - I 76546388 76546397 1 28 482.094 - - 8 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 6 3 9 24 33 26 34 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592178 X 76573986 TG T 296 PASS - - - - - Del - D 76573986 76573992 1 20 378.574 - - 5 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 3 5 4 19 19 19 19 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592203 X 76733252 CA C 360 PASS - - - - - Del - D 76733252 76733262 1 7 320.794 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 0 6 0 6 23 26 23 26 0 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592210 X 76778062 CT C 360 PASS ATRX CCDS14434.1 r.? - - Del intronic D 76778062 76778072 1 7 323.202 - - 9 1 1 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 0 7 3 31 29 31 29 7 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592218 X 76822216 TA T 300 PASS ATRX CCDS14434.1 r.? - - Del intronic D 76822216 76822226 1 12 270.84 - - 9 1 1 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 3 4 21 23 21 23 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592231 X 76900608 G GA 360 PASS ATRX CCDS14434.1 r.? - - Ins intronic I 76900608 76900618 1 16 321.396 - - 9 1 1 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 13 17 0 0 ./. 3 3 4 4 24 25 25 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592420 X 77647494 TA T 420 PASS - - - - - Del - D 77647494 77647504 1 8 379.176 - - 9 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 7 0 9 0 25 3 25 3 9 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592434 X 77709638 CA C 420 PASS - - - - - Del - D 77709638 77709648 1 18 376.768 - - 9 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 5 2 6 3 21 17 21 17 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592455 X 77796247 CT C 360 PASS - - - - - Del - D 77796247 77796257 1 16 324.406 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 3 3 3 23 16 23 16 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592491 X 78045762 CA C 420 PASS - - - - - Del - D 78045762 78045771 1 20 379.176 - - 8 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 4 4 5 30 34 30 34 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592511 X 78143073 CA C 358 PASS - - - - - Del - D 78143073 78143083 1 20 379.176 - - 9 1 1 - - ./. 0 0 0 0 25 10 25 10 0 0 ./. 3 4 5 5 23 23 23 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592514 X 78151266 CT C 360 PASS - - - - - Del - D 78151266 78151275 1 16 324.406 - - 8 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 3 4 4 21 23 21 23 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592541 X 78287495 TG T 420 PASS - - - - - Del - D 78287495 78287502 1 18 379.176 - - 6 1 1 - - ./. 0 0 0 0 15 4 15 4 0 0 ./. 5 2 9 3 27 23 27 23 9 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592550 X 78324891 CA C 360 PASS - - - - - Del - D 78324891 78324900 1 12 321.998 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 1 5 1 29 9 29 9 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592763 X 79027678 C CT 360 PASS - - - - - Ins - I 79027678 79027686 1 16 321.396 - - 7 1 1 - - ./. 0 0 0 0 16 13 17 14 0 0 ./. 3 3 3 3 19 19 19 19 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592933 X 79789333 TAC T 329 PASS - - - - - Del - D 79789333 79789344 2 12 325.008 - - 5 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 1 7 1 25 13 25 13 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760592983 X 80051507 GT G 294 PASS BRWD3 CCDS14447.1 r.? - - Del intronic D 80051507 80051517 1 12 270.84 - - 9 1 1 BRWD3|CCDS14447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRWD3|CCDS14447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 3 2 6 3 23 23 23 23 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593033 X 80254154 GA G 360 PASS - - - - - Del - D 80254154 80254163 1 16 325.008 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 3 5 4 19 32 19 32 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593136 X 80688109 CA C 277 PASS - - - - - Del - D 80688109 80688117 1 12 270.84 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 2 7 6 32 6 32 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593211 X 80947983 A AT 420 PASS - - - - - Ins - I 80947983 80947991 1 18 374.962 - - 7 1 1 - - ./. 0 0 0 0 12 19 13 19 0 0 ./. 5 2 6 3 22 28 22 28 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593219 X 81014201 CA C 300 PASS - - - - - Del - D 81014201 81014210 1 10 270.84 - - 8 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 1 5 2 19 31 19 31 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593255 X 81145671 GA G 360 PASS - - - - - Del - D 81145671 81145679 1 15 324.406 - - 7 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 4 2 4 3 26 23 26 23 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593294 X 81335538 CT C 420 PASS - - - - - Del - D 81335538 81335547 1 14 378.574 - - 8 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 1 6 1 6 15 35 15 35 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593493 X 82600232 GA G 300 PASS - - - - - Del - D 82600232 82600241 1 12 270.84 - - 8 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 3 2 5 2 32 13 32 13 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593500 X 82653944 CA C 300 PASS - - - - - Del - D 82653944 82653954 1 12 269.636 - - 9 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 2 3 3 4 26 21 26 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593533 X 82840300 GA G 540 PASS - - - - - Del - D 82840300 82840308 1 28 487.513 - - 7 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 3 7 4 23 11 23 11 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593608 X 83236878 CA C 300 PASS - - - - - Del - D 83236878 83236888 1 10 270.84 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 1 7 1 20 11 20 11 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593609 X 83244848 G GA 345 PASS - - - - - Ins - I 83244848 83244855 1 16 321.396 - - 6 1 1 - - ./. 0 0 0 0 18 23 18 23 0 0 ./. 3 3 3 5 23 33 23 33 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593671 X 83641316 AT A 360 PASS HDX CCDS35342.1 r.? - - Del intronic D 83641316 83641325 1 12 325.008 - - 8 1 1 HDX|CCDS35342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HDX|CCDS35342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 5 1 7 1 26 24 26 24 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593682 X 83685858 C CT 300 PASS HDX CCDS35342.1 r.? - - Ins intronic I 83685858 83685867 1 10 267.83 - - 8 1 1 HDX|CCDS35342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HDX|CCDS35342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 8 17 8 0 0 ./. 4 1 5 1 21 10 21 10 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593779 X 84048041 C CA 300 PASS - - - - - Ins - I 84048041 84048051 1 12 266.626 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 3 5 5 33 31 33 32 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593812 X 84144599 GA G 277 PASS - - - - - Del - D 84144599 84144608 1 12 270.238 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 2 3 18 22 18 22 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593858 X 84338745 CT C 420 PASS APOOL CCDS48138.1 r.? - - Del intronic D 84338745 84338754 1 18 379.176 - - 8 1 1 APOOL|CCDS48138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APOOL|CCDS48138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 2 6 3 28 20 28 20 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593864 X 84354279 CA C 600 PASS SATL1 CCDS35343.1 r.? - - Del intronic D 84354279 84354288 1 36 541.681 - - 8 1 1 SATL1|CCDS35343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SATL1|CCDS35343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 5 7 5 27 15 27 15 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593890 X 84618227 AT A 420 PASS POF1B CCDS14452.1 r.? - - Del intronic D 84618227 84618237 1 20 379.176 - - 9 1 1 POF1B|CCDS14452.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POF1B|CCDS14452.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 4 4 5 34 23 34 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760593964 X 85047137 G GA 274 PASS - - - - - Ins - I 85047137 85047144 1 16 321.396 - - 6 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 3 6 4 27 25 27 25 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594043 X 85420665 AT A 300 PASS DACH2 CCDS48140.1 r.? - - Del intronic D 85420665 85420673 1 6 270.84 - - 7 1 1 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 0 5 1 7 9 22 9 22 1 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594044 X 85425196 A ATC 480 PASS DACH2 CCDS48140.1 r.? - - Ins intronic I 85425196 85425210 2 25 423.712 - - 6 1 1 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 4 5 4 24 22 24 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594082 X 85589612 GT G 360 PASS DACH2 CCDS48140.1 r.? - - Del intronic D 85589612 85589620 1 12 325.008 - - 7 1 1 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 9 23 9 0 0 ./. 1 5 1 5 21 22 21 22 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594257 X 86366281 CA C 300 PASS - - - - - Del - D 86366281 86366290 1 12 270.84 - - 8 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 3 3 4 20 21 20 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594297 X 86457309 G GT 420 PASS - - - - - Ins - I 86457309 86457316 1 20 368.941 - - 6 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 3 5 4 21 21 21 21 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594312 X 86484582 AT A 300 PASS - - - - - Del - D 86484582 86484590 1 10 270.84 - - 7 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 1 5 2 16 20 16 20 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594515 X 87378296 TG T 300 PASS - - - - - Del - D 87378296 87378303 1 10 270.84 - - 6 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 1 4 1 4 22 26 22 26 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594678 X 87891481 TA T 300 PASS - - - - - Del - D 87891481 87891491 1 10 270.84 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 1 4 1 4 9 30 9 30 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594720 X 88068639 CA C 420 PASS - - - - - Del - D 88068639 88068645 1 18 379.176 - - 5 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 5 2 5 5 30 30 30 30 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594772 X 88274278 A AT 300 PASS - - - - - Ins - I 88274278 88274285 1 10 267.83 - - 6 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 1 6 2 32 22 32 23 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594817 X 88440040 CT C 300 PASS - - - - - Del - D 88440040 88440048 1 10 270.84 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 1 6 2 27 12 27 12 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760594953 X 88944635 G GT 255 PASS - - - - - Ins - I 88944635 88944641 1 10 267.83 - - 5 1 1 - - ./. 0 0 0 0 18 10 19 10 0 0 ./. 4 1 5 2 20 16 21 16 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760595137 X 89814698 G GA 300 PASS - - - - - Ins - I 89814698 89814707 1 10 267.83 - - 8 1 1 - - ./. 0 0 0 0 20 13 21 13 0 0 ./. 1 4 1 6 26 28 26 28 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760595219 X 90343239 CT C 300 PASS - - - - - Del - D 90343239 90343248 1 12 270.84 - - 8 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 2 3 3 25 29 25 29 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760595280 X 90659041 CA C 360 PASS - - - - - Del - D 90659041 90659051 1 7 325.008 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 0 6 2 7 11 18 11 18 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760595291 X 90697965 TA T 360 PASS PABPC5 CCDS14460.1 r.? - - Del downstream D 90697965 90697974 1 7 324.406 - - 8 1 1 PABPC5|CCDS14460.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PABPC5|CCDS14460.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 19 17 19 17 0 0 ./. 6 0 6 0 9 1 9 1 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760595499 X 91900748 CT C 358 PASS - - - - - Del - D 91900748 91900756 1 14 379.176 - - 7 1 1 - - ./. 0 0 0 0 6 17 6 17 0 0 ./. 1 6 1 11 2 34 2 34 1 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760595509 X 91963559 GCT G 420 PASS - - - - - Del - D 91963559 91963568 2 8 379.176 - - 4 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 7 0 7 0 18 11 18 11 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760595733 X 93000438 CA C 300 PASS - - - - - Del - D 93000438 93000447 1 10 270.84 - - 8 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 1 4 2 7 23 24 23 24 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596219 X 95353256 GA G 480 PASS - - - - - Del - D 95353256 95353264 1 24 433.345 - - 7 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 5 4 7 36 29 36 29 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596303 X 95784204 CA C 360 PASS - - - - - Del - D 95784204 95784214 1 16 325.008 - - 9 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 3 3 3 14 13 14 13 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596429 X 96275036 TA T 360 PASS DIAPH2 CCDS14467.1 r.? - - Del intronic D 96275036 96275045 1 12 325.008 - - 8 1 1 DIAPH2|CCDS14467.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIAPH2|CCDS14467.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 5 1 5 1 29 17 29 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596571 X 96738466 C CA 660 PASS DIAPH2 CCDS14467.1 r.? - - Ins intronic I 96738466 96738469 1 40 589.226 - - 2 1 1 DIAPH2|CCDS14467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DIAPH2|CCDS14467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 4 7 4 8 34 23 34 23 4 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596619 X 96912695 A AT 540 PASS - - - - - Ins - I 96912695 96912703 1 24 480.288 - - 7 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 7 5 10 20 41 20 42 5 10 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596641 X 97006291 CT C 360 PASS - - - - - Del - D 97006291 97006299 1 12 325.008 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 5 1 6 23 37 23 37 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596684 X 97285077 TG T 300 PASS - - - - - Del - D 97285077 97285084 1 12 270.84 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 2 3 2 27 22 27 22 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596685 X 97299255 GT G 269 PASS - - - - - Del - D 97299255 97299262 1 12 270.84 - - 6 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 2 5 3 25 24 25 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596699 X 97391607 AT A 360 PASS - - - - - Del - D 97391607 97391615 1 15 321.396 - - 7 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 2 6 2 34 20 34 20 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596772 X 97732660 GA G 420 PASS - - - - - Del - D 97732660 97732670 1 18 379.176 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 5 3 6 18 32 18 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596774 X 97757029 G GA 420 PASS - - - - - Ins - I 97757029 97757039 1 8 374.36 - - 9 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 0 7 3 8 21 37 21 38 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596830 X 98017935 CA C 509 PASS - - - - - Del - D 98017935 98017945 1 30 486.308 - - 9 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 5 4 6 4 25 17 25 17 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596901 X 98394875 CA C 300 PASS - - - - - Del - D 98394875 98394884 1 12 270.84 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 2 3 4 18 24 18 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596907 X 98416900 GA G 305 PASS - - - - - Del - D 98416900 98416909 1 16 322.6 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 3 3 5 28 27 28 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596951 X 98671834 C CA 480 PASS - - - - - Ins - I 98671834 98671840 1 25 428.528 - - 5 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 4 5 4 20 30 20 30 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596967 X 98817551 G GA 329 PASS - - - - - Ins - I 98817551 98817554 1 15 321.396 - - 2 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 4 3 4 13 20 13 20 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596981 X 98930882 A AT 300 PASS - - - - - Ins - I 98930882 98930887 1 12 267.83 - - 4 1 1 - - ./. 0 0 0 0 11 16 11 17 0 0 ./. 3 2 3 3 23 24 24 24 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760596995 X 99040208 GA G 360 PASS - - - - - Del - D 99040208 99040217 1 16 325.008 - - 8 1 1 - - ./. 0 0 0 0 18 5 18 5 0 0 ./. 3 3 3 3 26 15 26 15 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760597240 X 99838250 C CA 300 PASS TNMD CCDS14469.1 r.? - - Ins upstream I 99838250 99838260 1 12 267.228 - - 9 1 1 TNMD|CCDS14469.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 TNMD|CCDS14469.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 17 14 18 14 0 0 ./. 2 3 4 3 30 34 30 34 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760597277 X 99989876 CT C 358 PASS SYTL4 CCDS14472.1 r.? - - Del upstream D 99989876 99989884 1 20 379.176 - - 7 1 1 SYTL4|CCDS14472.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SYTL4|CCDS14472.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 4 3 5 17 31 17 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760597295 X 100033349 GT G 300 PASS - - - - - Del - D 100033349 100033357 1 12 270.84 - - 7 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 3 3 3 18 17 18 17 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760597461 X 100459642 TA T 300 PASS - - - - - Del - D 100459642 100459651 1 12 270.238 - - 8 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 5 3 24 21 24 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760597540 X 100682532 AT A 360 PASS - - - - - Del - D 100682532 100682541 1 16 325.008 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 4 3 35 32 35 32 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760597549 X 100712425 T TA 360 PASS - - - - - Ins - I 100712425 100712434 1 15 320.192 - - 8 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 2 4 3 6 22 32 22 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760597758 X 101851967 AT A 420 PASS ARMCX5 CCDS14500.1 r.? - - Del upstream D 101851967 101851977 1 20 379.176 - - 9 1 1 ARMCX5|CCDS14500.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ARMCX5|CCDS14500.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 5 9 5 0 0 ./. 4 3 5 5 26 23 26 23 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760597771 X 101947785 TA T 600 PASS - - - - - Del - D 101947785 101947792 1 32 541.079 - - 6 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 7 3 9 9 26 9 26 3 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760597782 X 102025535 G GT 300 PASS - - - - - Ins - I 102025535 102025543 1 12 267.83 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 10 0 0 ./. 3 2 3 3 14 21 14 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760597790 X 102112706 AT A 477 PASS - - - - - Del - D 102112706 102112715 1 16 433.345 - - 8 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 7 1 7 5 31 20 31 20 7 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760597911 X 102715812 A AT 389 PASS - - - - - Ins - I 102715812 102715820 1 20 374.962 - - 7 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 4 5 7 19 33 19 33 5 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598045 X 103279041 CT C 300 PASS H2BFM ENST00000243297 r.? - - Del intronic D 103279041 103279049 1 12 270.84 - - 7 1 1 H2BFM|ENST00000243297|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 H2BFM|ENST00000243297|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 5 2 21 14 21 14 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598122 X 103620569 C CA 360 PASS - - - - - Ins - I 103620569 103620574 1 16 318.386 - - 4 1 1 - - ./. 0 0 0 0 14 16 15 17 0 0 ./. 3 3 5 4 26 34 27 35 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598255 X 104207113 GA G 600 PASS IL1RAPL2 CCDS14517.1 r.? - - Del intronic D 104207113 104207123 1 35 541.681 - - 9 1 1 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 6 5 6 22 21 22 21 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598282 X 104297886 GA G 360 PASS IL1RAPL2 CCDS14517.1 r.? - - Del intronic D 104297886 104297894 1 15 325.008 - - 7 1 1 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 4 2 5 3 25 20 25 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598437 X 104962949 GA G 300 PASS IL1RAPL2 CCDS14517.1 r.? - - Del intronic D 104962949 104962958 1 10 270.84 - - 8 1 1 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 1 4 2 4 19 30 19 30 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598454 X 105063526 AG A 540 PASS - - - - - Del - D 105063526 105063532 1 28 485.706 - - 5 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 3 7 4 29 23 29 23 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598515 X 105388238 T TC 420 PASS - - - - - Ins - I 105388238 105388247 1 20 374.962 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 10 0 0 ./. 4 3 4 6 22 38 23 38 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598534 X 105582885 CG C 300 PASS - - - - - Del - D 105582885 105582893 1 12 270.84 - - 7 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 3 3 4 20 21 20 21 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598547 X 105659806 ACT A 300 PASS - - - - - Del - D 105659806 105659817 2 10 270.84 - - 5 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 1 6 1 16 17 16 17 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598548 X 105662677 AT A 300 PASS - - - - - Del - D 105662677 105662685 1 10 270.84 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 4 2 5 18 15 18 15 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598607 X 106133394 GA G 420 PASS - - - - - Del - D 106133394 106133404 1 18 379.176 - - 9 1 1 - - ./. 0 0 0 0 15 5 15 5 0 0 ./. 5 2 7 4 27 18 27 18 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598676 X 106450445 GA G 300 PASS CXorf41 CCDS14528.1 r.69delA c.? p.? Del 5'UTR variant D 106450445 106450455 1 12 270.238 - - 9 1 1 CXorf41|CCDS14528.1|r.69delA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 CXorf41|CCDS14528.1|r.69delA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 3 4 20 30 20 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598821 X 107162026 GCTT G 360 PASS MID2 CCDS14532.2 r.? - - Del intronic D 107162026 107162033 3 16 325.008 - - 2 1 1 MID2|CCDS14532.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MID2|CCDS14532.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 3 3 4 4 20 25 20 25 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598914 X 107687819 C CT 660 PASS COL4A5 CCDS35366.1 r.? - - Ins intronic I 107687819 107687825 1 42 589.226 - - 5 1 1 COL4A5|CCDS35366.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL4A5|CCDS35366.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 6 5 7 7 36 29 36 29 7 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760598943 X 107868710 AT A 360 PASS COL4A5 CCDS35366.1 r.? - - Del intronic D 107868710 107868720 1 12 325.008 - - 9 1 1 COL4A5|CCDS35366.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL4A5|CCDS35366.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 5 1 5 5 21 5 21 1 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599078 X 108458997 AC A 420 PASS - - - - - Del - D 108458997 108459004 1 18 379.176 - - 6 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 5 2 6 4 39 32 39 32 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599079 X 108465089 GA G 420 PASS - - - - - Del - D 108465089 108465099 1 18 378.574 - - 9 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 2 5 4 5 31 22 31 22 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599166 X 108917015 TA T 540 PASS ACSL4 CCDS14548.1 r.? - - Del intronic D 108917015 108917023 1 30 487.513 - - 7 1 1 ACSL4|CCDS14548.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACSL4|CCDS14548.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 4 5 4 18 29 18 29 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599237 X 109087234 G GA 420 PASS - - - - - Ins - I 109087234 109087243 1 20 374.36 - - 8 1 1 - - ./. 0 0 0 0 9 13 10 14 0 0 ./. 3 4 5 5 29 26 29 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599238 X 109087994 C CA 360 PASS - - - - - Ins - I 109087994 109088004 1 16 318.988 - - 9 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 3 3 3 22 28 22 28 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599261 X 109158909 CA C 420 PASS - - - - - Del - D 109158909 109158918 1 14 379.176 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 6 1 9 2 34 22 34 22 9 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599366 X 109849793 A AC 330 PASS - - - - - Ins - I 109849793 109849801 1 18 372.554 - - 7 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 5 2 8 5 32 23 33 24 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599525 X 110889609 CT C 300 PASS - - - - - Del - D 110889609 110889619 1 6 270.238 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 0 6 1 15 10 15 10 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599685 X 111799669 G GA 360 PASS - - - - - Ins - I 111799669 111799675 1 16 321.396 - - 5 1 1 - - ./. 0 0 0 0 11 18 11 19 0 0 ./. 3 3 4 5 28 26 29 26 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599715 X 111989143 CCTT C 389 PASS - - - - - Del - D 111989143 111989150 3 18 379.176 - - 2 1 1 - - ./. 0 0 0 0 18 23 18 23 0 0 ./. 2 5 4 6 32 35 32 35 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599733 X 112092437 GCAAA G 300 PASS - - - - - Del - D 112092437 112092444 4 12 270.84 - - 1 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 2 3 2 4 27 19 27 19 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760599880 X 112577881 GA G 300 PASS - - - - - Del - D 112577881 112577891 1 12 270.84 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 3 2 4 16 20 16 20 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600027 X 113222893 GTC G 360 PASS - - - - - Del - D 113222893 113222911 2 15 323.202 - - 8 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 2 6 2 28 23 28 23 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600086 X 113496187 CT C 420 PASS - - - - - Del - D 113496187 113496197 1 20 377.37 - - 9 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 4 5 9 29 26 29 26 5 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600104 X 113569959 AT A 300 PASS - - - - - Del - D 113569959 113569968 1 12 262.411 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 3 3 28 18 28 18 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600259 X 114333640 C CA 360 PASS - - - - - Ins - I 114333640 114333643 1 16 321.396 - - 2 1 1 - - ./. 0 0 0 0 13 6 13 7 0 0 ./. 3 3 3 5 26 27 28 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600400 X 114811100 CA C 660 PASS PLS3 CCDS14568.1 r.? - - Del intronic D 114811100 114811109 1 36 595.247 - - 8 1 1 PLS3|CCDS14568.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLS3|CCDS14568.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 8 3 10 4 31 20 31 20 10 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600446 X 115018463 GA G 360 PASS - - - - - Del - D 115018463 115018472 1 15 323.202 - - 8 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 2 4 4 37 21 37 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600556 X 115437120 CTTAG C 298 PASS - - - - - Del - D 115437120 115437131 4 7 325.008 - - 2 1 1 - - ./. 0 0 0 0 6 20 6 20 0 0 ./. 6 0 7 0 29 6 29 6 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600587 X 115566649 GCA G 360 PASS SLC6A14 CCDS14570.1 r.? - - Del upstream D 115566649 115566664 2 16 325.008 - - 7 1 1 SLC6A14|CCDS14570.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SLC6A14|CCDS14570.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 3 5 3 27 27 27 27 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600776 X 116296264 GA G 420 PASS - - - - - Del - D 116296264 116296273 1 18 379.176 - - 8 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 5 2 5 2 33 8 33 8 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600829 X 116548468 CA C 360 PASS - - - - - Del - D 116548468 116548477 1 15 325.008 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 4 2 7 27 34 27 34 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600947 X 117251688 C CA 269 PASS KLHL13 ENST00000371882 r.? - - Ins upstream I 117251688 117251697 1 10 266.626 - - 8 1 1 KLHL13|ENST00000371882|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 KLHL13|ENST00000371882|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 4 2 6 22 38 22 38 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760600957 X 117274687 TA T 300 PASS - - - - - Del - D 117274687 117274697 1 6 269.636 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 0 8 0 20 29 20 29 8 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601154 X 117838632 GA G 360 PASS - - - - - Del - D 117838632 117838642 1 15 325.008 - - 9 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 2 5 5 26 20 26 20 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601173 X 117880536 TA T 600 PASS IL13RA1 CCDS14573.1 r.? - - Del intronic D 117880536 117880538 1 36 541.681 - - 1 1 1 IL13RA1|CCDS14573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL13RA1|CCDS14573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 5 5 6 9 27 25 27 25 6 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601223 X 118016061 CT C 300 PASS - - - - - Del - D 118016061 118016071 1 12 270.84 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 4 5 25 23 25 23 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601259 X 118132214 G GTA 420 PASS LONRF3 CCDS14575.1 r.? - - Ins intronic I 118132214 118132225 2 14 370.748 - - 5 1 1 LONRF3|CCDS14575.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LONRF3|CCDS14575.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 18 7 18 0 0 ./. 1 6 3 6 18 31 18 32 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601311 X 118351212 T TA 600 PASS - - - - - Ins - I 118351212 118351217 1 36 535.66 - - 4 1 1 - - ./. 0 0 0 0 6 14 7 14 0 0 ./. 5 5 6 7 29 34 30 35 6 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601587 X 119017221 GGT G 300 PASS - - - - - Del - D 119017221 119017224 2 6 269.034 - - 1 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 0 5 2 6 11 26 11 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601651 X 119374715 CA C 480 PASS - - - - - Del - D 119374715 119374722 1 16 432.14 - - 6 1 1 - - ./. 0 0 0 0 7 20 7 20 0 0 ./. 1 7 1 9 3 27 3 27 1 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601653 X 119385253 TC T 420 PASS ZBTB33 CCDS14596.1 r.? - - Del intronic D 119385253 119385263 1 14 377.37 - - 9 1 1 ZBTB33|CCDS14596.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZBTB33|CCDS14596.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 6 2 7 21 27 21 27 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601715 X 119616606 AT A 360 PASS - - - - - Del - D 119616606 119616616 1 7 325.008 - - 9 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 6 0 7 1 27 11 27 11 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601863 X 120294412 CT C 480 PASS - - - - - Del - D 120294412 120294419 1 24 433.345 - - 6 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 5 3 6 3 30 29 30 29 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601889 X 120428498 CT C 300 PASS - - - - - Del - D 120428498 120428508 1 12 270.238 - - 9 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 2 3 4 24 26 24 26 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601932 X 120778322 GT G 420 PASS - - - - - Del - D 120778322 120778332 1 18 379.176 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 5 2 7 6 28 24 28 24 7 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760601936 X 120796061 AT A 480 PASS - - - - - Del - D 120796061 120796070 1 24 433.345 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 5 4 7 23 29 23 29 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760602094 X 121494529 A AT 360 PASS - - - - - Ins - I 121494529 121494539 1 15 321.396 - - 9 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 2 5 3 27 21 27 21 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760602136 X 121709978 A AT 360 PASS - - - - - Ins - I 121709978 121709987 1 15 319.59 - - 8 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 2 6 3 23 29 25 29 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760602177 X 121839202 CA C 300 PASS - - - - - Del - D 121839202 121839208 1 10 270.84 - - 5 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 1 5 1 19 7 19 7 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760602281 X 122240718 CA C 300 PASS - - - - - Del - D 122240718 122240727 1 12 270.238 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 3 5 4 29 37 29 37 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760602363 X 122546805 G GA 420 PASS GRIA3 ENST00000264357 r.? - - Ins intronic I 122546805 122546815 1 20 374.36 - - 9 1 1 GRIA3|ENST00000264357|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRIA3|ENST00000264357|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 3 4 4 7 27 37 27 37 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760602490 X 122940733 C CA 329 PASS - - - - - Ins - I 122940733 122940741 1 16 321.396 - - 7 1 1 - - ./. 0 0 0 0 10 14 11 14 0 0 ./. 3 3 4 4 24 42 24 42 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760602790 X 123980169 CA C 360 PASS ODZ1 CCDS14609.1 r.? - - Del intronic D 123980169 123980177 1 15 325.008 - - 7 1 1 ODZ1|CCDS14609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ1|CCDS14609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 2 4 2 21 22 21 22 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603012 X 124825171 CT C 360 PASS - - - - - Del - D 124825171 124825178 1 15 320.794 - - 6 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 4 3 5 31 33 31 33 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603038 X 124949292 GT G 360 PASS - - - - - Del - D 124949292 124949301 1 15 325.008 - - 8 1 - - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 4 3 5 25 33 25 33 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603096 X 125225071 C CA 420 PASS - - - - - Ins - I 125225071 125225077 1 20 374.962 - - 5 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 4 3 4 14 18 14 18 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603140 X 125514973 C CA 420 PASS - - - - - Ins - I 125514973 125514981 1 18 374.962 - - 7 1 1 - - ./. 0 0 0 0 12 16 13 16 0 0 ./. 5 2 5 4 34 22 34 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603141 X 125522401 G GA 263 PASS - - - - - Ins - I 125522401 125522409 1 12 267.83 - - 7 1 1 - - ./. 0 0 0 0 7 15 8 15 0 0 ./. 2 3 2 4 29 28 29 29 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603177 X 125643950 AT A 300 PASS - - - - - Del - D 125643950 125643960 1 12 270.84 - - 9 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 2 3 2 18 20 18 20 3 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603193 X 125738028 AT A 300 PASS - - - - - Del - D 125738028 125738037 1 10 270.84 - - 8 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 1 4 1 27 18 27 18 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603217 X 125827471 TA T 300 PASS - - - - - Del - D 125827471 125827478 1 10 270.84 - - 6 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 1 5 2 28 25 28 25 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603449 X 126708555 G GT 420 PASS - - - - - Ins - I 126708555 126708563 1 14 374.962 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 1 7 1 33 30 33 30 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603561 X 127098035 G GT 360 PASS - - - - - Ins - I 127098035 127098042 1 15 321.396 - - 6 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 4 2 6 2 30 24 30 24 6 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603709 X 127650602 CT C 269 PASS - - - - - Del - D 127650602 127650611 1 10 270.238 - - 8 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 4 1 5 2 27 24 27 24 5 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603753 X 127846566 GA G 360 PASS - - - - - Del - D 127846566 127846575 1 16 325.008 - - 8 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 3 3 5 26 24 26 24 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603763 X 127907393 AT A 420 PASS - - - - - Del - D 127907393 127907401 1 20 378.574 - - 7 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 3 6 3 30 33 30 33 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760603803 X 128084537 CTG C 300 PASS - - - - - Del - D 128084537 128084542 2 12 270.238 - - 2 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 2 5 3 20 25 20 25 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604002 X 129112600 GGT G 360 PASS BCORL1 CCDS14616.1 r.? - - Del upstream D 129112600 129112620 2 16 321.998 - - 9 1 - BCORL1|CCDS14616.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 BCORL1|CCDS14616.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 5 11 5 0 0 ./. 3 3 3 5 23 31 23 31 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604052 X 129281915 TA T 300 PASS AIFM1 CCDS48167.1 r.? - - Del intronic D 129281915 129281925 1 12 270.84 - - 9 1 1 AIFM1|CCDS48167.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AIFM1|CCDS48167.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 3 2 6 23 33 23 33 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604074 X 129381100 ATTTG A 449 PASS ZNF280C CCDS14622.1 r.? - - Del intronic D 129381100 129381112 4 21 433.345 - - 2 1 1 ZNF280C|CCDS14622.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF280C|CCDS14622.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 2 6 3 8 32 36 32 36 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604086 X 129427397 TA T 480 PASS - - - - - Del - D 129427397 129427406 1 24 433.345 - - 8 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 5 3 5 4 31 22 31 22 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604221 X 129908860 T TA 360 PASS ENOX2 CCDS14626.1 r.? - - Ins intronic I 129908860 129908868 1 15 318.988 - - 7 1 1 ENOX2|CCDS14626.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENOX2|CCDS14626.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 2 5 6 31 22 31 22 5 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604270 X 130249762 CT C 540 PASS - - - - - Del - D 130249762 130249770 1 10 487.513 - - 7 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 0 9 0 9 11 31 11 31 0 9 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604319 X 130515201 CT C 315 PASS IGSF1 ENST00000370904 r.? - - Del intronic D 130515201 130515209 1 20 379.176 - - 7 1 1 IGSF1|ENST00000370904|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IGSF1|ENST00000370904|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 4 3 4 17 30 17 30 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604350 X 130695749 TA T 300 PASS - - - - - Del - D 130695749 130695759 1 12 267.83 - - 9 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 2 3 2 4 25 24 25 24 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604365 X 130778881 G GA 360 PASS - - - - - Ins - I 130778881 130778888 1 12 320.794 - - 6 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 1 5 4 6 25 27 25 27 4 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604378 X 130809216 G GT 360 PASS - - - - - Ins - I 130809216 130809225 1 15 321.396 - - 8 1 - - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 2 4 6 5 30 31 30 32 6 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604428 X 130946116 GA G 600 PASS - - - - - Del - D 130946116 130946125 1 35 539.272 - - 8 1 1 - - ./. 0 0 0 0 16 4 16 4 0 0 ./. 6 4 8 5 29 26 29 26 8 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604497 X 131259612 CT C 420 PASS FRMD7 CCDS35397.1 r.? - - Del intronic D 131259612 131259619 1 20 379.176 - - 6 1 1 FRMD7|CCDS35397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD7|CCDS35397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 4 5 5 23 29 23 29 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604555 X 131571975 C CA 300 PASS MBNL3 CCDS14633.1 r.? - - Ins intronic I 131571975 131571985 1 12 267.83 - - 9 1 1 MBNL3|CCDS14633.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MBNL3|CCDS14633.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 2 4 13 23 13 25 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604684 X 132167148 CT C 300 PASS USP26 CCDS14635.1 r.? - - Del upstream D 132167148 132167157 1 12 269.636 - - 8 1 1 USP26|CCDS14635.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 USP26|CCDS14635.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 2 3 3 5 24 22 24 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604794 X 132622737 G GT 300 PASS - - - - - Ins - I 132622737 132622745 1 10 267.83 - - 7 1 - - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 1 5 1 29 17 29 17 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604830 X 132687456 CT C 480 PASS GPC3 CCDS14638.1 r.? - - Del intronic D 132687456 132687464 1 21 433.345 - - 7 1 1 GPC3|CCDS14638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC3|CCDS14638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 6 3 6 16 29 16 29 3 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604881 X 132958859 CA C 300 PASS GPC3 CCDS14638.1 r.? - - Del intronic D 132958859 132958867 1 12 270.84 - - 7 1 1 GPC3|CCDS14638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC3|CCDS14638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 3 5 17 19 17 19 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760604950 X 133243154 GA G 780 PASS - - - - - Del - D 133243154 133243161 1 50 704.185 - - 6 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 9 4 13 4 26 22 26 22 13 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605114 X 133974868 AT A 420 PASS FAM122C CCDS14644.1 r.? - - Del intronic D 133974868 133974876 1 20 379.176 - - 7 1 1 FAM122C|CCDS14644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM122C|CCDS14644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 3 5 3 9 23 9 23 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605165 X 134088452 CT C 329 PASS - - - - - Del - D 134088452 134088462 1 16 323.202 - - 9 1 - - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 3 4 4 32 28 32 28 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605212 X 134327790 ATC A 420 PASS - - - - - Del - D 134327790 134327808 2 20 379.176 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 3 5 5 24 26 24 26 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605284 X 134685895 CT C 360 PASS DDX26B CCDS35401.1 r.? - - Del intronic D 134685895 134685903 1 16 325.008 - - 7 1 1 DDX26B|CCDS35401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DDX26B|CCDS35401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 3 4 4 25 29 25 29 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605290 X 134720169 TG T 269 PASS DDX26B CCDS35401.1 r.? - - Del downstream D 134720169 134720177 1 12 269.636 - - 7 1 1 DDX26B|CCDS35401.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DDX26B|CCDS35401.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 4 16 4 16 0 0 ./. 2 3 3 5 18 20 18 20 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605364 X 135113136 T TA 300 PASS SLC9A6 CCDS44003.1 r.? - - Ins intronic I 135113136 135113145 1 6 267.83 - - 8 1 1 SLC9A6|CCDS44003.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC9A6|CCDS44003.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 11 6 11 0 0 ./. 5 0 6 0 35 21 35 22 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605457 X 135316397 TG T 269 PASS MAP7D3 CCDS44004.1 r.? - - Del intronic D 135316397 135316406 1 6 270.238 - - 8 1 1 MAP7D3|CCDS44004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP7D3|CCDS44004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 0 5 2 6 30 21 30 21 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605491 X 135479122 AT A 300 PASS GPR112 CCDS35409.1 r.? - - Del intronic D 135479122 135479129 1 10 270.84 - - 6 1 1 GPR112|CCDS35409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR112|CCDS35409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 1 4 2 4 20 18 20 18 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605571 X 135832416 CT C 420 PASS ARHGEF6 CCDS14660.1 r.? - - Del intronic D 135832416 135832421 1 14 379.176 - - 4 1 1 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 1 6 4 7 30 35 30 35 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605573 X 135838325 GA G 360 PASS ARHGEF6 CCDS14660.1 r.? - - Del intronic D 135838325 135838334 1 15 325.008 - - 8 1 1 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 4 5 4 22 25 22 25 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605582 X 135862677 T TG 300 PASS ARHGEF6 CCDS14660.1 r.? - - Ins intronic I 135862677 135862683 1 12 267.83 - - 5 1 1 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 23 13 23 0 0 ./. 2 3 2 4 16 28 17 28 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605671 X 136101243 TG T 300 PASS - - - - - Del - D 136101243 136101249 1 12 270.84 - - 5 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 4 4 30 20 30 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605689 X 136233447 G GT 300 PASS - - - - - Ins - I 136233447 136233457 1 10 267.83 - - 9 1 1 - - ./. 0 0 0 0 15 18 15 19 0 0 ./. 4 1 5 1 29 10 30 10 5 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605737 X 136420012 G GT 360 PASS - - - - - Ins - I 136420012 136420020 1 12 321.396 - - 7 1 1 - - ./. 0 0 0 0 10 16 11 16 0 0 ./. 1 5 2 5 21 31 21 31 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605807 X 136654281 AT A 329 PASS ZIC3 CCDS14663.1 r.? - - Del downstream D 136654281 136654290 1 15 325.008 - - 8 1 1 ZIC3|CCDS14663.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZIC3|ENST00000370606|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 4 5 4 32 10 32 10 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605856 X 136805256 AT A 300 PASS - - - - - Del - D 136805256 136805265 1 6 270.84 - - 8 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 0 6 1 24 20 24 20 6 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605888 X 136875448 G GA 697 PASS - - - - - Ins - I 136875448 136875455 1 45 642.19 - - 6 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 8 4 10 8 32 32 33 32 10 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605898 X 136941625 A AT 360 PASS - - - - - Ins - I 136941625 136941634 1 16 321.396 - - 8 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 3 3 24 22 24 22 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760605975 X 137273014 CT C 360 PASS - - - - - Del - D 137273014 137273020 1 16 323.202 - - 5 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 3 3 4 31 24 31 24 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760606031 X 137585970 C CA 480 PASS - - - - - Ins - I 137585970 137585978 1 24 428.528 - - 7 1 1 - - ./. 0 0 0 0 8 15 9 15 0 0 ./. 3 5 4 7 33 36 33 36 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760606036 X 137619187 TA T 360 PASS - - - - - Del - D 137619187 137619196 1 16 325.008 - - 8 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 3 4 4 27 18 27 18 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760606079 X 137959414 GA G 300 PASS FGF13 ENST00000370603 r.? - - Del intronic D 137959414 137959424 1 12 270.238 - - 9 1 1 FGF13|ENST00000370603|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF13|ENST00000370603|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 2 3 3 16 13 16 13 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760606134 X 138166905 T TA 420 PASS FGF13 ENST00000436198 r.? - - Ins intronic I 138166905 138166912 1 18 371.35 - - 6 1 1 FGF13|ENST00000436198|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FGF13|ENST00000436198|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 2 6 4 25 29 25 29 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760606438 X 139322886 CT C 480 PASS - - - - - Del - D 139322886 139322895 1 24 432.742 - - 8 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 3 5 5 5 20 21 20 21 5 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760606673 X 140423222 GA G 296 PASS - - - - - Del - D 140423222 140423230 1 12 325.008 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 5 2 6 22 30 22 30 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760606738 X 140740870 AT A 300 PASS - - - - - Del - D 140740870 140740879 1 10 270.84 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 4 1 6 4 20 4 20 1 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760606741 X 140751804 G GA 360 PASS - - - - - Ins - I 140751804 140751812 1 15 321.396 - - 7 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 2 5 4 32 27 32 27 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760606858 X 141228625 CA C 360 PASS - - - - - Del - D 141228625 141228633 1 16 325.008 - - 7 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 3 3 5 3 28 18 28 18 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760606911 X 141406607 AT A 329 PASS - - - - - Del - D 141406607 141406615 1 7 325.008 - - 7 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 0 6 0 7 12 31 12 31 0 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760607094 X 142177896 T TA 300 PASS - - - - - Ins - I 142177896 142177904 1 10 267.83 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 4 1 4 22 26 22 27 1 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760607102 X 142204312 TC T 540 PASS - - - - - Del - D 142204312 142204319 1 28 483.298 - - 6 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 6 3 8 4 27 23 27 23 8 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760607236 X 142756075 C CA 300 PASS - - - - - Ins - I 142756075 142756082 1 12 267.83 - - 6 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 3 2 4 2 17 23 17 23 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760607339 X 143154541 GA G 300 PASS - - - - - Del - D 143154541 143154550 1 12 269.636 - - 8 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 4 4 16 17 16 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760607354 X 143317915 CA C 360 PASS - - - - - Del - D 143317915 143317924 1 12 323.202 - - 8 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 1 5 3 34 20 34 20 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760607379 X 143385468 TC T 360 PASS - - - - - Del - D 143385468 143385473 1 15 325.008 - - 4 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 4 3 5 23 22 23 22 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760607440 X 143660500 GA G 300 PASS - - - - - Del - D 143660500 143660508 1 6 270.84 - - 7 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 0 7 0 21 3 21 3 7 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760607565 X 144074268 GT G 300 PASS - - - - - Del - D 144074268 144074278 1 10 270.84 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 1 4 1 39 27 39 27 4 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760607722 X 144628098 CA C 480 PASS - - - - - Del - D 144628098 144628108 1 25 432.742 - - 9 1 1 - - ./. 0 0 0 0 3 20 3 20 0 0 ./. 4 4 4 5 20 19 20 19 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760607727 X 144672967 TA T 360 PASS - - - - - Del - D 144672967 144672976 1 7 323.804 - - 8 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 6 0 6 0 29 9 29 9 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760607952 X 145667897 GA G 360 PASS - - - - - Del - D 145667897 145667907 1 16 324.406 - - 9 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 3 3 3 7 22 21 22 21 3 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608003 X 145863084 GA G 420 PASS - - - - - Del - D 145863084 145863093 1 18 373.758 - - 8 1 1 - - ./. 0 0 0 0 9 26 9 26 0 0 ./. 5 2 9 5 26 18 26 18 9 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608095 X 146157260 C CT 329 PASS - - - - - Ins - I 146157260 146157270 1 15 321.396 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 4 2 6 10 31 10 32 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608129 X 146307496 CG C 540 PASS MIR513A2 ENST00000385249 r.? - - Del upstream D 146307496 146307498 1 24 487.513 - - 1 1 1 MIR513A2|ENST00000385249|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 MIR513A2|ENST00000385249|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 7 3 8 29 22 29 22 3 8 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608135 X 146333601 CA C 360 PASS - - - - - Del - D 146333601 146333610 1 15 325.008 - - 8 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 2 6 3 24 27 24 27 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608146 X 146371739 GA G 300 PASS - - - - - Del - D 146371739 146371745 1 6 270.84 - - 5 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 0 5 2 7 22 27 22 27 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608159 X 146452415 AT A 300 PASS - - - - - Del - D 146452415 146452424 1 12 270.84 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 2 4 14 16 14 16 2 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608162 X 146484187 CT C 300 PASS - - - - - Del - D 146484187 146484194 1 10 270.84 - - 6 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 1 4 2 6 11 26 11 26 2 6 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608280 X 146992383 CT C 269 PASS FMR1 CCDS14682.1 r.? - - Del upstream D 146992383 146992393 1 12 266.024 - - 9 1 1 FMR1|CCDS14682.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000224191|ENST00000433064|r.1049delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 3 4 3 35 22 35 22 4 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608322 X 147144015 CT C 300 PASS - - - - - Del - D 147144015 147144024 1 12 270.84 - - 8 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 3 2 3 3 37 21 37 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608419 X 147552527 TC T 360 PASS - - - - - Del - D 147552527 147552536 1 15 325.008 - - 8 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 2 7 4 25 16 25 16 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608421 X 147564763 G GA 300 PASS - - - - - Ins - I 147564763 147564770 1 12 267.83 - - 6 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 2 4 2 23 28 23 28 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608451 X 147684743 G GA 300 PASS AFF2 CCDS14684.1 r.? - - Ins intronic I 147684743 147684753 1 12 266.626 - - 9 1 1 AFF2|CCDS14684.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AFF2|CCDS14684.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 3 2 3 3 41 26 41 26 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608460 X 147732877 CT C 480 PASS AFF2 CCDS14684.1 r.? - - Del intronic D 147732877 147732885 1 24 433.345 - - 7 1 1 AFF2|CCDS14684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF2|CCDS14684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 3 7 4 31 28 31 28 7 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608483 X 147820118 AT A 360 PASS AFF2 CCDS14684.1 r.? - - Del intronic D 147820118 147820128 1 15 325.008 - - 9 1 1 AFF2|CCDS14684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF2|CCDS14684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 2 5 3 26 24 26 24 5 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608526 X 148098036 GT G 420 PASS - - - - - Del - D 148098036 148098044 1 14 379.176 - - 7 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 1 6 2 7 22 38 22 38 2 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608534 X 148144938 GT G 300 PASS - - - - - Del - D 148144938 148144946 1 12 270.84 - - 7 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 3 3 3 23 9 23 9 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608540 X 148187372 A AT 269 PASS - - - - - Ins - I 148187372 148187382 1 12 265.422 - - 9 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 4 5 26 29 27 29 4 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608718 X 149318767 CTT C 420 PASS - - - - - Del - D 149318767 149318777 2 18 379.176 - - 9 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 2 5 4 7 29 24 29 24 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608749 X 149451230 TC T 300 PASS - - - - - Del - D 149451230 149451237 1 10 270.84 - - 6 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 1 4 2 29 21 29 21 4 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608755 X 149465940 AT A 329 PASS - - - - - Del - D 149465940 149465949 1 15 325.008 - - 8 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 2 4 3 4 18 27 18 27 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608764 X 149519487 CT C 300 PASS - - - - - Del - D 149519487 149519496 1 12 270.84 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 2 3 22 15 22 15 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608773 X 149550147 C CT 420 PASS MAMLD1 CCDS14693.2 r.? - - Ins intronic I 149550147 149550156 1 20 373.156 - - 8 1 1 MAMLD1|CCDS14693.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MAMLD1|CCDS14693.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 14 19 15 0 0 ./. 3 4 3 4 24 22 24 22 3 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608858 X 149842080 GA G 300 PASS MTM1 CCDS14694.1 r.? - - Del downstream D 149842080 149842089 1 12 270.84 - - 8 1 1 MTM1|CCDS14694.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 MTM1|CCDS14694.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 2 3 27 23 27 23 2 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608901 X 150054564 GA G 420 PASS CD99L2 CCDS35427.1 r.? - - Del intronic D 150054564 150054572 1 14 377.37 - - 7 1 1 CD99L2|CCDS35427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD99L2|CCDS35427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 1 7 1 38 22 38 22 7 1 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608907 X 150078595 AT A 420 PASS - - - - - Del - D 150078595 150078603 1 20 377.972 - - 7 1 1 - - ./. 0 0 0 0 14 3 14 3 0 0 ./. 4 3 4 4 26 21 26 21 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608925 X 150138783 CA C 269 PASS - - - - - Del - D 150138783 150138793 1 12 270.238 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 3 4 4 17 20 17 20 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760608933 X 150155930 CT C 300 PASS HMGB3 CCDS35428.1 r.? - - Del intronic D 150155930 150155939 1 12 269.034 - - 8 1 1 HMGB3|CCDS35428.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMGB3|CCDS35428.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 2 3 3 38 21 38 21 3 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609122 X 150892666 TAG T 420 PASS FATE1 CCDS14700.1 r.? - - Del downstream D 150892666 150892686 2 20 378.574 - - 9 1 1 FATE1|CCDS14700.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FATE1|CCDS14700.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 3 5 4 32 23 32 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609172 X 151141472 TG T 269 PASS MIR224 CCDS14703.1 r.? - - Del intronic D 151141472 151141482 1 10 270.84 - - 9 1 1 MIR224|CCDS14703.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR224|CCDS14703.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 4 2 5 16 23 16 23 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609207 X 151323170 A AT 420 PASS - - - - - Ins - I 151323170 151323173 1 20 374.962 - - 2 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 4 6 4 28 28 28 28 6 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609254 X 151624474 CA C 420 PASS GABRA3 CCDS14706.1 r.? - - Del upstream D 151624474 151624484 1 14 379.176 - - 9 1 1 GABRA3|CCDS14706.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 GABRA3|CCDS14706.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 15 16 15 0 0 ./. 6 1 7 2 37 23 37 23 7 2 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609309 X 151978282 CT C 360 PASS - - - - - Del - D 151978282 151978292 1 16 325.008 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 3 6 3 28 32 28 32 6 3 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609316 X 152004678 C CT 308 PASS NSDHL CCDS14717.1 r.? - - Ins intronic I 152004678 152004684 1 20 374.36 - - 5 1 1 NSDHL|CCDS14717.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NSDHL|CCDS14717.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 5 4 30 39 31 39 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609522 X 152998320 G GT 300 PASS ABCD1 CCDS14728.1 r.? - - Ins intronic I 152998320 152998330 1 12 264.218 - - 9 1 1 ABCD1|CCDS14728.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCD1|CCDS14728.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 2 5 29 27 30 27 2 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609653 X 153358869 G GT 840 PASS MECP2 CCDS14741.1 r.? - - Ins intronic I 153358869 153358878 1 60 749.322 - - 8 1 1 MECP2|CCDS14741.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MECP2|CCDS14741.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 5 9 8 11 23 44 23 45 8 11 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609817 X 154189012 GA G 300 PASS F8 CCDS35457.1 r.? - - Del intronic D 154189012 154189022 1 6 270.84 - - 9 1 1 F8|CCDS35457.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 F8|CCDS35457.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 0 6 0 21 2 21 2 6 0 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609820 X 154217071 CAA C 480 PASS F8 CCDS35457.1 r.? - - Del intronic D 154217071 154217075 2 25 433.345 - - 3 1 1 F8|CCDS35457.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 F8|CCDS35457.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 4 5 4 27 23 27 23 5 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609830 X 154264204 G GT 300 PASS FUNDC2 CCDS14763.1 r.? - - Ins intronic I 154264204 154264214 1 12 267.83 - - 9 1 1 FUNDC2|CCDS14763.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FUNDC2|CCDS14763.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 2 4 4 23 16 23 17 4 4 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609839 X 154304225 TC T 480 PASS MTCP1 CCDS44027.1 r.? - - Del upstream D 154304225 154304232 1 21 429.732 - - 6 1 1 MTCP1|CCDS44027.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 MTCP1|CCDS44027.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 6 4 7 26 31 26 31 4 7 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609897 X 154640274 AT A 360 PASS - - - - - Del - D 154640274 154640284 1 15 325.008 - - 9 1 1 - - ./. 0 0 0 0 22 10 22 10 0 0 ./. 2 4 3 5 21 27 21 27 3 5 1 1 1 1 1 1 1 1 2772617 PD7318a PD7318b 2760609920 X 154784135 G GT 300 PASS TMLHE CCDS14768.1 r.? - - Ins intronic I 154784135 154784143 1 12 266.626 - - 7 1 1 TMLHE|CCDS14768.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TMLHE|CCDS14768.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 2 3 2 6 17 31 17 32 2 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761035625 1 63003275 AG A 300 PASS DOCK7 CCDS30734.1 r.? - - Del intronic D 63003275 63003277 1 6 263.262 - - 1 1 1 DOCK7|CCDS30734.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK7|CCDS30734.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 0 9 0 26 11 26 11 9 0 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761042439 1 86639534 C CT 360 PASS - - - - - Ins - I 86639534 86639540 1 12 308.569 - - 5 1 1 - - ./. 0 0 0 0 22 27 23 27 0 0 ./. 1 5 4 9 17 28 17 29 4 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761054787 1 148537493 TG T 259 PASS - - - - - Del - D 148537493 148537495 1 8 376.153 - - 1 1 1 - - ./. 0 0 0 0 37 28 37 28 0 0 ./. 7 0 7 0 43 29 43 29 7 0 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761056548 1 153635439 GC G 840 PASS ILF2 CCDS1050.1 r.? - - Del intronic D 153635439 153635441 1 63 751.703 - - 1 1 1 ILF2|CCDS1050.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ILF2|CCDS1050.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 8 6 9 10 20 21 20 21 9 10 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761067122 1 189163242 TA T 509 PASS - - - - - Del - D 189163242 189163250 1 28 483.625 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 6 6 7 23 21 23 21 6 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761074623 1 214969245 CTG C 927 PASS - - - - - Del - D 214969245 214969251 2 90 913.514 - - 2 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 8 9 10 9 23 27 23 27 10 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761086647 10 3077310 A AG 480 PASS - - - - - Ins - I 3077310 3077316 1 24 426.454 - - 5 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 3 7 3 26 13 26 13 7 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761087129 10 4385132 A AC 720 PASS - - - - - Ins - I 4385132 4385139 1 48 638.476 - - 6 1 1 - - ./. 0 0 0 0 20 24 20 24 0 0 ./. 5 7 9 8 21 26 22 27 9 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761090664 10 13454333 G GT 300 PASS - - - - - Ins - I 13454333 13454341 1 12 266.534 - - 7 1 - - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 3 2 4 5 29 24 29 24 4 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761095402 10 28001866 T TA 300 PASS MKX CCDS7156.1 r.? - - Ins intronic I 28001866 28001876 1 12 265.329 - - 9 1 1 MKX|CCDS7156.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MKX|CCDS7156.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 2 3 22 31 24 31 2 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761095499 10 28313497 CT C 336 PASS - - - - - Del - D 28313497 28313507 1 15 323.453 - - 9 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 4 2 5 3 17 16 17 16 5 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761106426 10 62738294 TATCAAAACG T 319 PASS RHOBTB1 CCDS7261.1 r.? - - Del intronic D 62738294 62738307 9 40 592.996 - - 1 1 1 RHOBTB1|CCDS7261.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RHOBTB1|CCDS7261.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 7 4 9 4 21 12 21 12 9 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761112683 10 83395205 C CA 420 PASS - - - - - Ins - I 83395205 83395215 1 18 364.116 - - 9 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 2 5 7 5 23 15 23 15 7 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761127692 10 132918417 CGT C 300 PASS TCERG1L CCDS7662.2 r.? - - Del intronic D 132918417 132918435 2 12 260.513 - - 8 1 - TCERG1L|CCDS7662.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCERG1L|CCDS7662.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 2 3 2 27 25 27 25 3 2 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761132444 11 11644558 AT A 600 PASS GALNTL4 CCDS7807.1 r.? - - Del upstream D 11644558 11644561 1 20 540.088 - - 2 1 1 GALNTL4|CCDS7807.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 GALNTL4|CCDS7807.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 3 8 3 0 0 ./. 9 1 13 1 28 5 28 5 13 1 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761142284 11 42387636 CCTTTTCT C 435 PASS - - - - - Del - D 42387636 42387646 7 72 809.529 - - 1 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 7 8 7 8 18 21 19 21 8 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761144970 11 50576119 CAA C 300 PASS - - - - - Del - D 50576119 50576125 2 12 270.044 - - 5 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 3 2 4 3 41 28 41 28 4 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761148978 11 67733083 GAA G 300 PASS - - - - - Del - D 67733083 67733088 2 6 270.044 - - 4 1 1 - - ./. 0 0 0 0 4 22 4 22 0 0 ./. 0 5 0 5 0 14 0 14 0 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761153873 11 85386927 GATTGACCGTGTCTAGGGCACTGTTGGATTATGTTTACAAGCACTAC G 261 PASS - - - - - Del - D 85386927 85386976 46 28 484.273 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 6 3 3 1 14 17 17 19 6 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761154927 11 88756860 T TA 269 PASS GRM5 CCDS44694.1 r.? - - Ins intronic I 88756860 88756870 1 6 267.033 - - 9 1 1 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 0 5 0 6 4 23 4 23 0 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761157389 11 97734695 TAGA T 989 PASS - - - - - Del - D 97734695 97734703 3 84 915.138 - - 2 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 11 6 12 7 25 22 26 22 13 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761160704 11 107866772 C CT 540 PASS - - - - - Ins - I 107866772 107866782 1 24 480.66 - - 9 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 7 2 9 4 32 22 32 22 9 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761164875 11 121482103 CAT C 720 PASS SORL1 CCDS8436.1 r.? - - Del intronic D 121482103 121482109 2 45 646.901 - - 2 1 1 SORL1|CCDS8436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORL1|CCDS8436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 4 16 4 0 0 ./. 8 4 11 5 26 19 26 19 11 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761174125 12 15363581 CA C 480 PASS RERG CCDS8673.1 r.? - - Del intronic D 15363581 15363584 1 24 431.505 - - 2 1 1 RERG|CCDS8673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RERG|CCDS8673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 5 4 6 26 18 26 18 4 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761182297 12 43138661 A AT 480 PASS - - - - - Ins - I 43138661 43138669 1 24 426.689 - - 7 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 5 3 6 3 19 14 19 14 6 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761187785 12 62026561 A AT 660 PASS - - - - - Ins - I 62026561 62026571 1 42 586.321 - - 9 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 5 6 7 7 20 23 20 23 7 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761195006 12 90171211 T TA 840 PASS - - - - - Ins - I 90171211 90171213 1 55 747.759 - - 1 1 1 - - ./. 0 0 0 0 17 14 21 14 0 0 ./. 10 4 13 9 29 16 34 16 13 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761196262 12 94680607 CAG C 660 PASS PLXNC1 CCDS9049.1 r.? - - Del intronic D 94680607 94680612 2 40 594.148 - - 2 1 1 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 7 4 11 5 25 16 25 16 11 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761196879 12 95948261 T TA 360 PASS USP44 CCDS9053.1 r.? - - Ins upstream I 95948261 95948271 1 16 320.468 - - 9 1 1 USP44|CCDS9053.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 USP44|CCDS9053.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 13 14 13 0 0 ./. 3 3 5 6 16 23 17 23 5 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761205581 12 122982088 CA C 420 PASS ZCCHC8 ENST00000336229 r.? - - Del intronic D 122982088 122982096 1 18 376.89 - - 7 1 1 ZCCHC8|ENST00000336229|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZCCHC8|ENST00000336229|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 2 5 2 7 14 24 14 24 2 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761210335 13 20591938 T TAAA 418 PASS ZMYM2 CCDS45016.1 r.? - - Ins intronic I 20591938 20591939 3 25 418.683 - - 0 1 1 ZMYM2|CCDS45016.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZMYM2|CCDS45016.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 22 16 22 0 0 ./. 4 4 4 4 18 16 18 16 4 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761216120 13 36625372 C CT 300 PASS DCLK1 CCDS9354.1 r.? - - Ins intronic I 36625372 36625376 1 12 267.697 - - 3 1 1 DCLK1|CCDS9354.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DCLK1|CCDS9354.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 5 3 15 13 15 13 5 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761222372 13 56745835 AAAC A 420 PASS - - - - - Del - D 56745835 56745840 3 18 378.991 - - 1 1 1 - - ./. 0 0 0 0 27 20 27 20 0 0 ./. 2 5 2 5 8 18 8 18 2 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761223615 13 61234999 TTTTAG T 687 PASS - - - - - Del - D 61234999 61235007 5 56 702.636 - - 1 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 6 7 6 9 29 25 29 25 6 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761230888 13 84129955 GGA G 300 PASS - - - - - Del - D 84129955 84129972 2 12 270.708 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 2 3 2 28 29 28 29 3 2 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761234941 13 97157771 GCT G 480 PASS HS6ST3 CCDS9481.1 r.? - - Del intronic D 97157771 97157780 2 25 433.132 - - 4 1 1 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 4 4 6 9 21 31 21 31 6 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761236527 13 102147971 A AT 989 PASS ITGBL1 CCDS9499.1 r.? - - Ins intronic I 102147971 102147980 1 88 901.141 - - 8 1 1 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 7 10 9 14 27 34 27 34 10 14 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761238687 13 109056246 GA G 360 PASS - - - - - Del - D 109056246 109056249 1 15 324.849 - - 2 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 2 6 7 15 28 15 28 6 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761251413 14 53755876 T TAA 780 PASS - - - - - Ins - I 53755876 53755879 2 56 688.794 - - 2 1 1 - - ./. 0 0 0 0 22 27 22 27 0 0 ./. 6 7 8 9 23 25 23 25 8 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761274780 15 40244509 TG T 300 PASS EIF2AK4 CCDS42016.1 r.? - - Del intronic D 40244509 40244511 1 6 264.418 - - 1 1 1 EIF2AK4|CCDS42016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF2AK4|CCDS42016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 15 24 15 0 0 ./. 5 0 7 0 28 20 28 20 7 0 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761278092 15 51731299 AGTT A 509 PASS - - - - - Del - D 51731299 51731308 3 28 487.874 - - 2 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 3 6 6 6 21 16 21 16 6 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761279322 15 55320884 T TAC 360 PASS - - - - - Ins - I 55320884 55320899 2 12 318.024 - - 7 1 - - - ./. 0 0 0 0 23 21 23 21 0 0 ./. 5 1 8 1 29 19 31 19 8 1 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761281034 15 60451271 GA G 360 PASS - - - - - Del - D 60451271 60451279 1 15 325.249 - - 7 1 - - - ./. 0 0 0 0 18 30 18 30 0 0 ./. 2 4 8 7 34 25 34 25 8 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761283938 15 68881593 TG T 1200 PASS CORO2B ENST00000261861 r.? - - Del intronic D 68881593 68881595 1 117 1083.56 - - 1 1 1 CORO2B|ENST00000261861|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CORO2B|ENST00000261861|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 12 8 14 9 31 21 31 21 14 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761284517 15 70930604 CA C 660 PASS - - - - - Del - D 70930604 70930608 1 40 595.086 - - 3 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 4 7 5 9 20 26 20 26 5 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761285377 15 73596188 AC A 420 PASS NEO1 CCDS10247.1 r.5680delC c.? p.? Del 3'UTR variant D 73596188 73596192 1 20 377.049 - - 3 1 1 NEO1|CCDS10247.1|r.5680delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 NEO1|CCDS10247.1|r.5680delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 4 3 8 18 22 18 22 3 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761289522 15 87412056 TG T 660 PASS - - - - - Del - D 87412056 87412058 1 40 596.29 - - 1 1 1 - - ./. 0 0 0 0 18 24 18 24 0 0 ./. 7 4 12 7 28 20 28 20 12 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761291936 15 95051768 C CA 540 PASS - - - - - Ins - I 95051768 95051778 1 30 480.649 - - 9 1 1 - - ./. 0 0 0 0 25 13 25 13 0 0 ./. 5 4 9 6 27 22 28 22 9 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761294682 16 876007 GTGGTCTCTT G 290 PASS - - - - - Del - D 876007 876019 9 35 541.337 - - 1 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 6 4 8 5 18 22 18 22 8 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761295399 16 3259862 TATA T 358 PASS OR1F1 CCDS10496.1 r.? - - Del downstream D 3259862 3259868 3 20 378.936 - - 1 1 1 OR1F1|CCDS10496.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OR1F1|CCDS10496.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 20 14 20 0 0 ./. 3 4 4 5 23 11 23 11 4 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761300838 16 17951498 AC A 1080 PASS - - - - - Del - D 17951498 17951502 1 99 968.987 - - 3 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 10 8 16 10 32 20 32 20 16 10 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761301151 16 19026286 GT G 420 PASS TMC7 CCDS10573.1 r.? - - Del intronic D 19026286 19026294 1 18 374.119 - - 7 1 1 TMC7|CCDS10573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMC7|CCDS10573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 5 2 6 3 18 21 18 21 6 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761301958 16 21513318 C CGAGAAG 300 PASS - - - - - Ins - I 21513318 21513328 6 36 549.714 - - 1 1 1 - - ./. 0 0 0 0 22 24 23 24 0 0 ./. 3 8 4 9 49 45 51 45 4 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761303837 16 26830710 TC T 720 PASS - - - - - Del - D 26830710 26830713 1 45 648.4 - - 2 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 8 4 11 7 24 15 24 15 11 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761305325 16 31627071 C CA 480 PASS - - - - - Ins - I 31627071 31627078 1 24 428.253 - - 6 1 1 - - ./. 0 0 0 0 22 19 22 19 0 0 ./. 5 3 5 3 37 28 37 28 5 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761305833 16 32465364 AC A 379 PASS - - - - - Del - D 32465364 32465368 1 14 703.738 - - 3 1 1 - - ./. 0 0 0 0 39 29 39 29 0 0 ./. 13 0 15 0 42 43 42 43 15 0 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761310274 16 53331426 CT C 420 PASS CHD9 CCDS45485.1 r.? - - Del intronic D 53331426 53331428 1 20 378.936 - - 1 1 1 CHD9|CCDS45485.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHD9|CCDS45485.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 3 6 4 24 16 24 16 6 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761310978 16 55917175 G GT 600 PASS - - - - - Ins - I 55917175 55917182 1 32 534.112 - - 6 1 - - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 7 3 8 8 27 32 27 32 8 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761316500 16 74221771 G GT 360 PASS AC009120.1 ENST00000510251 r.? - - Ins downstream I 74221771 74221778 1 12 321.19 - - 6 1 1 AC009120.1|ENST00000510251|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 AC009120.1|ENST00000510251|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 ./. 0 0 0 0 14 20 14 20 0 0 ./. 5 1 7 4 22 19 22 19 7 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761319262 16 82088357 A AT 1049 PASS HSD17B2 CCDS10936.1 r.? - - Ins intronic I 82088357 82088364 1 91 961.161 - - 6 1 1 HSD17B2|CCDS10936.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HSD17B2|CCDS10936.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 12 6 12 12 29 35 30 35 12 12 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761320380 16 85339664 TC T 600 PASS AC092275.1 ENST00000505771 r.? - - Del upstream D 85339664 85339667 1 36 541.337 - - 2 1 1 AC092275.1|ENST00000505771|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 AC092275.1|ENST00000505771|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 8 21 8 21 0 0 ./. 5 5 6 6 25 24 25 24 6 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761321490 16 88861233 CA C 360 PASS - - - - - Del - D 88861233 88861235 1 15 322.394 - - 1 1 1 - - ./. 0 0 0 0 23 13 23 13 0 0 ./. 4 2 6 3 18 12 18 12 6 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761322912 17 2185853 GAAGT G 325 PASS SMG6 CCDS11016.1 r.? - - Del intronic D 2185853 2185859 4 21 431.38 - - 1 1 1 SMG6|CCDS11016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMG6|CCDS11016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 2 9 3 19 15 19 15 9 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761335632 17 39191024 CTGG C 1074 PASS KRTAP1-3 CCDS42323.1 r.81_83delCCA c.47_49delCCA p.T16delT Del inframe D 39191024 39191031 3 126 1131.7 - - 2 1 1 KRTAP1-3|CCDS42323.1|r.81_83delCCA|c.47_49delCCA|p.T16delT|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 KRTAP1-3|CCDS42323.1|r.81_83delCCA|c.47_49delCCA|p.T16delT|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 10 10 10 10 0 0 ./. 8 13 9 15 27 28 27 28 9 15 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761364836 18 49514083 AAACAACAATCCACTAATT A 261 PASS - - - - - Del - D 49514083 49514103 18 30 484.918 - - 1 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 5 4 4 4 22 21 23 21 5 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761370800 18 68198284 A AT 420 PASS AC013558.1 ENST00000511515 r.? - - Ins intronic I 68198284 68198293 1 18 375.286 - - 8 1 1 AC013558.1|ENST00000511515|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC013558.1|ENST00000511515|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 5 2 8 3 22 20 23 20 8 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761371103 18 69207996 CA C 360 PASS - - - - - Del - D 69207996 69207998 1 12 318.061 - - 1 1 1 - - ./. 0 0 0 0 12 22 12 22 0 0 ./. 5 1 10 2 22 12 22 12 10 2 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761374331 19 1239349 G GT 300 PASS C19orf26 CCDS12057.1 r.? - - Ins upstream I 1239349 1239359 1 10 268.015 - - 9 1 1 C19orf26|CCDS12057.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 C19orf26|CCDS12057.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 19 15 20 15 0 0 ./. 4 1 5 1 30 23 30 23 5 1 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761380144 19 15120238 T TA 660 PASS CCDC105 CCDS12322.1 r.? - - Ins upstream I 15120238 15120245 1 42 589.633 - - 6 1 1 CCDC105|CCDS12322.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 CCDC105|CCDS12322.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 19 15 19 15 0 0 ./. 6 5 6 5 27 11 27 11 6 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761387758 19 37326186 AAAAAT A 509 PASS ZNF790 CCDS12496.1 r.? - - Del intronic D 37326186 37326212 5 28 484.233 - - 5 1 - ZNF790|CCDS12496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF790|CCDS12496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 20 4 20 0 0 ./. 3 6 4 7 14 11 14 11 4 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761388986 19 40622070 G GA 840 PASS - - - - - Ins - I 40622070 40622077 1 63 750.442 - - 6 1 1 - - ./. 0 0 0 0 21 12 21 13 0 0 ./. 8 6 11 10 31 30 31 30 11 10 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761411652 2 49423379 C CT 360 PASS - - - - - Ins - I 49423379 49423386 1 12 315.934 - - 6 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 1 5 3 5 22 19 22 19 3 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761417992 2 72068515 A AT 780 PASS - - - - - Ins - I 72068515 72068523 1 54 691.047 - - 7 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 8 8 12 19 31 20 31 8 12 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761435307 2 133958032 C CA 360 PASS NCKAP5 CCDS46418.1 r.? - - Ins intronic I 133958032 133958041 1 12 312.924 - - 8 1 1 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 18 23 18 0 0 ./. 5 1 7 2 25 10 25 10 7 2 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761440612 2 152476496 C CA 420 PASS NEB CCDS46424.1 r.? - - Ins intronic I 152476496 152476503 1 18 372.102 - - 6 1 1 NEB|CCDS46424.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NEB|CCDS46424.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 2 11 2 11 0 0 ./. 2 5 4 5 18 20 18 20 4 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761441688 2 155634031 TC T 600 PASS KCNJ3 CCDS2200.1 r.? - - Del intronic D 155634031 155634033 1 32 537.595 - - 1 1 1 KCNJ3|CCDS2200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNJ3|CCDS2200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 21 15 21 0 0 ./. 3 7 7 10 19 27 19 27 7 10 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761441722 2 155719152 TC T 660 PASS KCNJ3 CCDS2200.1 r.? - - Del downstream D 155719152 155719154 1 42 591.354 - - 1 1 1 KCNJ3|CCDS2200.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KCNJ3|CCDS2200.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 20 16 20 0 0 ./. 6 5 7 5 20 16 20 16 7 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761442665 2 159416925 TTAAGAG T 290 PASS PKP4 CCDS33306.1 r.? - - Del intronic D 159416925 159416932 6 36 536.993 - - 1 1 1 PKP4|CCDS33306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKP4|CCDS33306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 5 5 5 6 14 22 14 22 5 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761442684 2 159463279 GAAAT G 540 PASS PKP4 CCDS33306.1 r.? - - Del intronic D 159463279 159463291 4 28 483.835 - - 2 1 1 PKP4|CCDS33306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKP4|CCDS33306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 18 27 18 0 0 ./. 3 6 4 9 16 20 16 20 4 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761463738 2 229782101 A AT 720 PASS - - - - - Ins - I 229782101 229782103 1 48 637.889 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 7 8 7 18 22 18 22 8 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761464857 2 233432766 TATCTAAC T 493 PASS EIF4E2 CCDS2496.1 r.? - - Del intronic D 233432766 233432775 7 88 913.309 - - 1 1 1 EIF4E2|CCDS2496.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF4E2|CCDS2496.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 7 10 8 10 23 20 23 20 8 10 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761465015 2 233813745 A AC 960 PASS NGEF CCDS2500.1 r.? - - Ins intronic I 233813745 233813746 1 77 849.315 - - 0 1 1 NGEF|CCDS2500.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NGEF|CCDS2500.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 10 6 12 9 32 25 32 25 12 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761470040 20 6195190 G GA 466 PASS - - - - - Ins - I 6195190 6195199 1 21 429.757 - - 8 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 2 6 6 8 26 18 27 18 6 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761473024 20 16603314 C CT 420 PASS - - - - - Ins - I 16603314 16603324 1 18 376.037 - - 9 1 1 - - ./. 0 0 0 0 20 21 20 21 0 0 ./. 5 2 8 5 19 24 19 24 8 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761482044 20 45886722 C CT 720 PASS ZMYND8 CCDS46613.1 r.? - - Ins intronic I 45886722 45886724 1 48 644.635 - - 1 1 1 ZMYND8|CCDS46613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZMYND8|CCDS46613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 25 23 25 0 0 ./. 5 7 6 9 24 24 24 24 6 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761482655 20 47743262 ATAAATAGATCAACAG A 319 PASS STAU1 CCDS13414.1 r.? - - Del intronic D 47743262 47743278 15 36 597.538 - - 1 1 1 STAU1|CCDS13414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STAU1|CCDS13414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 8 3 8 17 18 17 19 3 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761496101 21 28462858 C CT 480 PASS - - - - - Ins - I 28462858 28462868 1 24 427.018 - - 9 1 1 - - ./. 0 0 0 0 13 19 14 20 0 0 ./. 3 5 6 6 17 26 17 26 6 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761511366 22 40521634 GAC G 300 PASS TNRC6B CCDS46712.1 r.? - - Del intronic D 40521634 40521652 2 10 270.871 - - 8 1 1 TNRC6B|CCDS46712.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TNRC6B|CCDS46712.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 20 27 20 0 0 ./. 1 4 1 5 29 15 29 15 1 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761531344 3 56451823 GA G 629 PASS ERC2 CCDS46851.1 r.? - - Del intronic D 56451823 56451827 1 36 588.331 - - 3 1 1 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 8 5 9 21 23 21 23 5 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761543641 3 99099361 CAT C 639 PASS - - - - - Del - D 99099361 99099366 2 42 584.718 - - 2 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 6 5 9 5 23 14 23 14 9 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761550810 3 123650929 CA C 600 PASS CCDC14 CCDS3025.2 r.? - - Del intronic D 123650929 123650933 1 36 538.677 - - 3 1 1 CCDC14|CCDS3025.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC14|CCDS3025.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 5 5 5 6 20 19 20 19 5 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761553028 3 131429890 TATC T 298 PASS CPNE4 CCDS3072.1 r.? - - Del intronic D 131429890 131429898 3 16 323.206 - - 2 1 1 CPNE4|CCDS3072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPNE4|CCDS3072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 5 4 21 22 21 22 5 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761558469 3 150558925 C CG 300 PASS - - - - - Ins - I 150558925 150558933 1 6 265.726 - - 7 1 1 - - ./. 0 0 0 0 15 4 15 4 0 0 ./. 5 0 5 0 33 10 33 10 5 0 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761558820 3 151515137 AG A 809 PASS - - - - - Del - D 151515137 151515140 1 55 754.148 - - 2 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 10 6 13 17 20 17 20 6 13 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761562042 3 163282080 CAGG C 836 PASS - - - - - Del - D 163282080 163282086 3 65 861.884 - - 1 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 4 12 7 13 19 27 19 27 7 13 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761562495 3 164857404 AG A 791 PASS - - - - - Del - D 164857404 164857407 1 84 967.211 - - 2 1 1 - - ./. 0 0 0 0 23 20 23 20 0 0 ./. 13 5 15 6 26 27 26 27 15 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761563035 3 166766964 G GA 600 PASS - - - - - Ins - I 166766964 166766974 1 27 520.013 - - 9 1 1 - - ./. 0 0 0 0 29 16 29 16 0 0 ./. 2 8 4 11 29 23 29 24 4 11 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761566313 3 178552195 A AAG 480 PASS KCNMB2 CCDS3223.1 r.? - - Ins intronic I 178552195 178552200 2 24 421.309 - - 2 1 1 KCNMB2|CCDS3223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNMB2|CCDS3223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 15 18 0 0 ./. 5 3 9 4 25 18 25 20 9 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761570535 3 192437593 AG A 300 PASS FGF12 CCDS46983.1 r.? - - Del intronic D 192437593 192437595 1 6 269.339 - - 1 1 - FGF12|CCDS46983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF12|CCDS46983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 0 7 0 23 22 23 22 7 0 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761573483 4 3087879 GAGAA G 538 PASS HTT CCDS43206.1 r.? - - Del intronic D 3087879 3087894 4 35 538.451 - - 3 1 1 HTT|CCDS43206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HTT|CCDS43206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 6 4 9 5 23 19 23 19 9 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761582023 4 31943112 GCT G 300 PASS - - - - - Del - D 31943112 31943127 2 10 268.021 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 4 1 4 18 27 18 27 1 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761592732 4 66040372 C CA 600 PASS - - - - - Ins - I 66040372 66040381 1 32 532.43 - - 8 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 7 3 9 5 21 12 21 12 9 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761599773 4 89441704 A AT 480 PASS PIGY CCDS3631.1 r.? - - Ins downstream I 89441704 89441711 1 25 425.944 - - 6 1 1 PIGY|CCDS3631.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 HERC3|ENST00000513325|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 4 4 6 17 24 17 24 4 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761601349 4 95960908 A AT 389 PASS BMPR1B ENST00000515059 r.? - - Ins intronic I 95960908 95960917 1 20 372.701 - - 8 1 1 BMPR1B|ENST00000515059|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BMPR1B|ENST00000515059|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 21 11 21 0 0 ./. 3 4 3 4 14 17 14 17 3 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761603955 4 106426428 AAG A 300 PASS - - - - - Del - D 106426428 106426445 2 6 269.225 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 0 5 0 19 16 19 16 5 0 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761612392 4 135619990 GC G 420 PASS - - - - - Del - D 135619990 135619992 1 20 376.915 - - 1 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 3 4 6 6 25 17 25 17 6 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761613723 4 140170682 A AG 300 PASS - - - - - Ins - I 140170682 140170683 1 12 256.582 - - 0 1 1 - - ./. 0 0 0 0 17 11 18 12 0 0 ./. 2 3 2 3 19 16 20 16 2 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761616385 4 150109030 G GA 480 PASS - - - - - Ins - I 150109030 150109039 1 24 424.74 - - 8 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 3 5 4 20 20 20 20 5 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761630244 4 190573436 AGGTGGGGTCGTGGAGATGGAAACACCAGTGGAATAAGGGTGGAG A 364 PASS - - - - - Del - D 190573436 190573490 44 27 536.042 - - 1 1 1 - - ./. 0 0 0 0 45 36 45 36 0 0 ./. 8 2 0 0 170 43 175 44 8 2 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761645481 5 50506387 TC T 780 PASS - - - - - Del - D 50506387 50506392 1 54 700.987 - - 4 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 8 7 11 19 25 19 25 7 11 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761656096 5 87969533 G GT 600 PASS - - - - - Ins - I 87969533 87969543 1 35 532.598 - - 9 1 1 - - ./. 0 0 0 0 18 23 18 24 0 0 ./. 6 4 9 7 18 32 18 32 9 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761661725 5 109641465 GT G 697 PASS - - - - - Del - D 109641465 109641472 1 49 645.259 - - 6 1 1 - - ./. 0 0 0 0 25 20 25 20 0 0 ./. 6 6 9 7 28 20 28 20 9 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761661855 5 110088917 CAG C 420 PASS SLC25A46 CCDS4100.1 r.? - - Del intronic D 110088917 110088921 2 18 376.852 - - 1 1 1 SLC25A46|CCDS4100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC25A46|CCDS4100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 15 22 15 0 0 ./. 2 5 5 8 14 29 14 29 5 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761669799 5 139069917 AC A 360 PASS - - - - - Del - D 139069917 139069922 1 15 323.532 - - 4 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 4 5 7 27 24 27 24 5 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761672369 5 148812375 CAAT C 329 PASS MIR143 ENST00000385300 r.? - - Del downstream D 148812375 148812384 3 16 323.532 - - 2 1 1 MIR143|ENST00000385300|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 MIR143|ENST00000385300|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 3 4 3 24 27 24 27 4 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761677479 5 166912527 AT A 960 PASS - - - - - Del - D 166912527 166912529 1 80 862.753 - - 1 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 7 9 7 12 24 26 24 26 7 12 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761679980 5 174852366 TC T 540 PASS - - - - - Del - D 174852366 174852368 1 24 482.89 - - 1 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 7 5 13 15 27 15 27 5 13 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761681459 5 178977533 G GCGCC 509 PASS RUFY1 CCDS4445.2 r.? - - Ins upstream I 178977533 178977549 4 30 461.818 - - 3 1 1 RUFY1|CCDS4445.2|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 RUFY1|CCDS4445.2|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 16 11 20 13 0 0 ./. 5 4 5 4 17 12 19 12 5 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761682489 6 1202848 T TAG 660 PASS - - - - - Ins - I 1202848 1202853 2 40 577.924 - - 2 1 1 - - ./. 0 0 0 0 14 12 14 13 0 0 ./. 4 7 7 9 28 32 28 33 7 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761683957 6 5494372 TG T 300 PASS FARS2 CCDS4494.1 r.? - - Del intronic D 5494372 5494374 1 6 256.289 - - 1 1 - FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 22 14 22 0 0 ./. 5 0 7 0 20 40 20 40 7 0 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761709677 6 84617328 A AT 360 PASS CYB5R4 CCDS5000.2 r.? - - Ins intronic I 84617328 84617335 1 15 319.829 - - 6 1 1 CYB5R4|CCDS5000.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CYB5R4|CCDS5000.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 16 22 16 0 0 ./. 2 4 2 8 21 21 22 21 2 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761710822 6 88940616 AT A 660 PASS - - - - - Del - D 88940616 88940618 1 42 592.975 - - 1 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 5 6 11 10 27 26 27 26 11 10 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761711736 6 91867961 CTTAT C 418 PASS - - - - - Del - D 91867961 91867968 4 24 431.255 - - 1 1 - - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 5 5 6 16 16 16 16 5 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761724473 6 137458291 T TA 540 PASS - - - - - Ins - I 137458291 137458293 1 24 479.743 - - 1 1 1 - - ./. 0 0 0 0 17 20 18 20 0 0 ./. 7 2 10 4 22 18 22 18 10 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761725948 6 143203068 CCT C 600 PASS HIVEP2 CCDS43510.1 r.? - - Del intronic D 143203068 143203073 2 20 539.069 - - 2 1 1 HIVEP2|CCDS43510.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HIVEP2|CCDS43510.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 1 9 4 12 19 37 19 37 4 12 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761728966 6 153480043 TCCC T 838 PASS - - - - - Del - D 153480043 153480048 3 66 804.388 - - 4 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 5 10 7 11 24 21 24 21 7 11 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761732503 6 164857171 ATATGAGCATGCTTTTAACATTTATCTTGTGCAT A 377 PASS - - - - - Del - D 164857171 164857207 33 54 700.789 - - 1 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 8 5 6 3 16 14 18 16 8 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761735860 7 4735229 TCGACACC T 305 PASS FOXK1 CCDS34591.1 r.? - - Del intronic D 4735229 4735237 7 42 589.51 - - 1 1 1 FOXK1|CCDS34591.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FOXK1|CCDS34591.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 5 6 5 12 13 30 13 30 5 12 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761743617 7 29033374 G GA 480 PASS CPVL CCDS5419.1 r.? - - Ins downstream I 29033374 29033382 1 21 424.137 - - 7 1 1 CPVL|CCDS5419.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CPVL|CCDS5419.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 20 14 20 14 0 0 ./. 2 6 12 7 31 38 31 39 12 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761745027 7 33617646 TAGAACTTAA T 378 PASS BBS9 CCDS43566.1 r.? - - Del intronic D 33617646 33617658 9 60 808.803 - - 1 1 1 BBS9|CCDS43566.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BBS9|CCDS43566.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 4 11 6 8 23 21 23 24 6 11 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761745182 7 34296727 TG T 540 PASS - - - - - Del - D 34296727 34296730 1 30 485.282 - - 2 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 5 4 6 5 18 23 18 23 6 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761748903 7 47226837 G GA 660 PASS - - - - - Ins - I 47226837 47226840 1 42 586.5 - - 2 1 - - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 6 6 7 17 22 17 22 6 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761749657 7 49946527 T TA 420 PASS VWC2 CCDS5508.1 r.? - - Ins intronic I 49946527 49946537 1 20 373.227 - - 9 1 1 VWC2|CCDS5508.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VWC2|CCDS5508.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 21 20 21 0 0 ./. 3 4 7 4 22 26 22 27 7 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761780832 7 150089957 G GA 660 PASS ZNF775 CCDS43678.1 r.? - - Ins intronic I 150089957 150089963 1 42 586.5 - - 5 1 1 ZNF775|CCDS43678.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF775|CCDS43678.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 6 5 11 5 28 20 28 21 11 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761805542 8 75750483 TAAG T 300 PASS PI15 CCDS6218.1 r.? - - Del intronic D 75750483 75750489 3 10 270.03 - - 1 1 1 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 23 23 23 0 0 ./. 4 1 7 2 22 6 22 6 7 2 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761808521 8 86849673 T TA 1080 PASS - - - - - Ins - I 86849673 86849676 1 99 955.851 - - 2 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 10 8 11 11 18 24 18 24 11 11 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761813146 8 103769725 AAGC A 538 PASS - - - - - Del - D 103769725 103769731 3 32 538.855 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 7 4 7 21 25 21 25 4 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761816387 8 116617498 TTAATAATA TTG 348 PASS TRPS1 CCDS6318.2 r.? - - Complex intronic DI 116617499 116617506 8 45 0 - - 0 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 14 28 14 28 0 0 ./. 8 4 0 0 21 21 21 21 8 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761818340 8 123515210 AT A 660 PASS - - - - - Del - D 123515210 123515213 1 40 592.259 - - 2 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 4 7 4 7 18 27 18 27 4 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761820025 8 129160207 TC T 600 PASS MIR1208 ENST00000408334 r.? - - Del upstream D 129160207 129160209 1 36 538.855 - - 1 1 1 MIR1208|ENST00000408334|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 MIR1208|ENST00000408334|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 23 12 23 12 0 0 ./. 5 5 7 7 21 20 21 20 7 7 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761822113 8 137080221 CGTT C 267 PASS - - - - - Del - D 137080221 137080230 3 16 324.036 - - 2 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 3 5 4 13 25 13 25 5 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761825486 9 2281471 C CT 448 PASS - - - - - Ins - I 2281471 2281478 1 30 481.174 - - 6 1 1 - - ./. 0 0 0 0 17 7 18 7 0 0 ./. 5 4 7 5 22 23 22 23 7 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761826800 9 7055187 CA C 629 PASS KDM4C CCDS6471.1 r.? - - Del intronic D 7055187 7055191 1 42 594.725 - - 3 1 1 KDM4C|CCDS6471.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KDM4C|CCDS6471.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 16 23 16 0 0 ./. 5 6 7 8 20 28 20 28 7 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761831158 9 21441913 GGAAGA G 509 PASS IFNA1 CCDS6508.1 r.? - - Del downstream D 21441913 21441926 5 28 485.991 - - 2 1 1 IFNA1|CCDS6508.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 IFNA1|CCDS6508.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 6 13 6 0 0 ./. 6 3 7 6 19 22 19 22 7 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761831843 9 24452311 GT G 480 PASS - - - - - Del - D 24452311 24452313 1 24 432.527 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 5 7 12 18 23 18 23 7 12 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761851544 9 112703376 C CT 540 PASS PALM2 CCDS48002.1 r.? - - Ins intronic I 112703376 112703383 1 28 479.97 - - 6 1 1 PALM2|CCDS48002.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PALM2|CCDS48002.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 23 16 23 0 0 ./. 3 6 6 8 18 32 18 32 6 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761851658 9 113085753 CT C 720 PASS TXNDC8 CCDS35104.1 r.? - - Del intronic D 113085753 113085757 1 49 647.586 - - 3 1 1 TXNDC8|CCDS35104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TXNDC8|ENST00000374507|r.774delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 6 7 10 32 22 32 22 7 10 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761852715 9 115632563 GTTTATTTTTAATGAA G 435 PASS SNX30 CCDS43865.1 r.2919_2933delUUUAUUUUUAAUGAA c.? p.? Del 3'UTR variant D 115632563 115632579 15 72 810.988 - - 1 1 1 SNX30|CCDS43865.1|r.2919_2933delUUUAUUUUUAAUGAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SNX30|CCDS43865.1|r.2919_2933delUUUAUUUUUAAUGAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 22 25 22 25 0 0 ./. 7 8 7 8 23 29 23 29 7 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761854963 9 123119044 TC T 840 PASS - - - - - Del - D 123119044 123119048 1 60 756.922 - - 3 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 9 5 11 5 23 13 23 13 11 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761855021 9 123434181 AATATATA AATT 348 PASS MEGF9 CCDS48010.1 r.? - - Complex intronic DI 123434182 123434188 7 49 0 - - 0 1 1 MEGF9|CCDS48010.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 MEGF9|CCDS48010.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 6 6 0 0 18 24 18 24 6 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761855146 9 123847702 CAG C 300 PASS CEP110 CCDS35118.1 r.? - - Del intronic D 123847702 123847719 2 12 270.329 - - 8 1 1 CEP110|CCDS35118.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CEP110|CCDS35118.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 2 3 2 3 20 29 20 29 2 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761861210 X 4211146 CATCT C 600 PASS - - - - - Del - D 4211146 4211157 4 36 540.993 - - 2 1 - - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 5 5 11 6 22 23 22 23 11 6 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761865404 X 22859754 G GA 660 PASS - - - - - Ins - I 22859754 22859762 1 40 588.469 - - 7 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 4 7 7 8 28 17 28 18 7 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761865680 X 23833946 CAG C 300 PASS - - - - - Del - D 23833946 23833964 2 12 270.496 - - 8 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 2 3 2 4 24 33 24 33 2 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761866898 X 29378686 C CT 300 PASS IL1RAPL1 CCDS14218.1 r.? - - Ins intronic I 29378686 29378695 1 12 267.486 - - 8 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 15 27 15 0 0 ./. 3 2 3 2 21 26 21 26 3 2 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761867480 X 31429764 G GT 360 PASS DMD CCDS14233.1 r.? - - Ins intronic I 31429764 31429771 1 12 320.983 - - 6 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 19 21 19 0 0 ./. 5 1 8 5 18 17 18 17 8 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761867885 X 33297563 A AG 300 PASS DMD ENST00000288447 r.? - - Ins intronic I 33297563 33297567 1 12 265.078 - - 3 1 1 DMD|ENST00000288447|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DMD|ENST00000288447|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 19 23 19 0 0 ./. 3 2 3 3 26 32 26 32 3 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761868054 X 34216301 A ACTG 449 PASS - - - - - Ins - I 34216301 34216307 3 25 418.345 - - 1 1 1 - - ./. 0 0 0 0 15 20 15 21 0 0 ./. 4 4 6 5 25 22 25 22 6 5 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761868139 X 34560783 TG T 300 PASS - - - - - Del - D 34560783 34560785 1 10 270.496 - - 1 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 4 1 4 3 20 15 20 15 4 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761869223 X 40506423 A AGGAG 598 PASS MED14 CCDS14254.1 r.? - - Ins downstream I 40506423 40506435 4 36 566.795 - - 2 1 1 MED14|CCDS14254.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CXorf38|ENST00000378426|r.383_384inscucc|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 21 8 21 8 0 0 ./. 3 8 5 9 20 28 20 28 5 9 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761869875 X 43457134 TTC T 300 PASS - - - - - Del - D 43457134 43457151 2 12 269.894 - - 8 1 - - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 2 3 2 18 23 18 23 3 2 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761873630 X 66687093 TA T 629 PASS - - - - - Del - D 66687093 66687102 1 42 595.092 - - 8 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 5 6 6 11 18 24 18 24 6 11 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761874659 X 71310519 AC A 600 PASS - - - - - Del - D 71310519 71310526 1 32 539.789 - - 6 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 7 3 9 3 17 12 17 12 9 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761876181 X 79428228 A AC 600 PASS - - - - - Ins - I 79428228 79428236 1 32 531.962 - - 7 1 1 - - ./. 0 0 0 0 18 16 18 18 0 0 ./. 7 3 8 8 19 26 19 26 8 8 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761877572 X 86665876 A AT 1020 PASS - - - - - Ins - I 86665876 86665883 1 88 893.799 - - 6 1 1 - - ./. 0 0 0 0 16 27 16 27 0 0 ./. 7 10 13 13 27 31 27 31 13 13 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761878549 X 90993191 A AT 480 PASS - - - - - Ins - I 90993191 90993199 1 16 427.978 - - 7 1 1 - - ./. 0 0 0 0 22 24 23 25 0 0 ./. 7 1 12 3 28 35 28 35 12 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761882698 X 112346543 AC A 426 PASS - - - - - Del - D 112346543 112346546 1 24 478.465 - - 2 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 7 2 8 3 17 10 17 10 8 3 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761883287 X 114727078 AACCATTTGC A 406 PASS - - - - - Del - D 114727078 114727089 9 55 755.584 - - 1 1 1 - - ./. 0 0 0 0 24 19 24 19 0 0 ./. 10 4 10 4 27 13 28 13 11 4 1 1 1 1 1 1 1 1 2772674 PD7319a PD7319b 2761886263 X 126476630 GAC G 300 PASS - - - - - Del - D 126476630 126476649 2 10 270.496 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 1 4 1 4 25 23 25 23 1 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761984246 1 11055671 TCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTCAGTAGAGTTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGGCCTCAGGTGATCCA T 290 PASS - - - - - Del - D 11055671 11055811 135 32 533.752 - - 1 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 7 0 0 24 23 26 27 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761985969 1 15980672 CCT C 900 PASS DDI2 CCDS30607.1 r.? - - Del intronic D 15980672 15980675 2 72 805.445 - - 1 1 1 DDI2|CCDS30607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DDI2|CCDS30607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 8 7 9 10 26 30 26 30 9 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761986434 1 16877236 CT C 350 PASS AL355149.1 ENST00000515775 r.? - - Del intronic D 16877236 16877239 1 35 537.365 - - 2 1 1 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 4 6 8 8 44 50 44 50 8 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761991389 1 30885262 CAGCCGTGGTGCTGGTGTTCGCT C 261 PASS - - - - - Del - D 30885262 30885285 22 24 483.628 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 7 2 5 2 29 28 31 28 7 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761992727 1 34988208 TCTTC T 358 PASS - - - - - Del - D 34988208 34988219 4 18 373.747 - - 2 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 2 5 3 30 24 30 24 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761993159 1 36734181 GC G 660 PASS THRAP3 CCDS405.1 r.? - - Del intronic D 36734181 36734183 1 40 588.091 - - 1 1 1 THRAP3|CCDS405.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 THRAP3|CCDS405.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 7 5 8 15 27 15 27 5 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761993450 1 37939125 GCA G 360 PASS ZC3H12A CCDS417.1 r.? - - Del upstream D 37939125 37939144 2 12 322.419 - - 9 1 - ZC3H12A|CCDS417.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ZC3H12A|CCDS417.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 1 7 1 29 18 29 18 7 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761993976 1 39582708 GCAGCCTCC G 580 PASS MACF1 CCDS435.1 r.? - - Del intronic D 39582708 39582717 8 121 1072.32 - - 1 1 1 MACF1|CCDS435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACF1|CCDS435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 10 10 11 10 25 22 25 22 11 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761995715 1 45312429 A AT 389 PASS PTCH2 CCDS516.1 r.? - - Ins upstream I 45312429 45312437 1 20 370.737 - - 7 1 1 PTCH2|CCDS516.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 PTCH2|CCDS516.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 9 17 9 18 0 0 ./. 4 3 4 3 17 25 18 25 4 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761998385 1 55301756 CCTT C 478 PASS C1orf177 CCDS599.1 r.? - - Del intronic D 55301756 55301762 3 30 483.628 - - 1 1 1 C1orf177|CCDS599.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf177|CCDS599.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 5 5 6 22 23 22 23 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761999290 1 58780018 C CT 360 PASS - - - - - Ins - I 58780018 58780024 1 15 318.806 - - 5 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 2 4 6 7 19 26 19 26 6 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2761999878 1 61142628 C CA 1200 PASS - - - - - Ins - I 61142628 61142637 1 105 1053.05 - - 8 1 1 - - ./. 0 0 0 0 15 18 15 19 0 0 ./. 6 14 8 21 26 42 26 43 8 21 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762002527 1 70101518 T TA 540 PASS LRRC7 ENST00000310961 r.? - - Ins intronic I 70101518 70101526 1 30 478.21 - - 7 1 1 LRRC7|ENST00000310961|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LRRC7|ENST00000310961|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 5 4 6 16 17 16 17 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762003565 1 74485007 TAGG T 447 PASS - - - - - Del - D 74485007 74485017 3 28 481.822 - - 3 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 6 3 12 16 30 16 30 3 12 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762010529 1 99344117 AT A 300 PASS - - - - - Del - D 99344117 99344125 1 12 268.682 - - 7 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 3 2 4 2 26 22 26 22 4 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762011940 1 104658897 TG T 540 PASS - - - - - Del - D 104658897 104658900 1 30 483.026 - - 2 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 5 5 8 17 26 17 26 5 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762013457 1 109730557 AGCTATTCCTTGTCACCCAG A 493 PASS KIAA1324 CCDS794.1 r.? - - Del intronic D 109730557 109730579 19 88 913.52 - - 1 1 1 KIAA1324|CCDS794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1324|CCDS794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 10 7 10 7 24 23 24 23 10 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762014280 1 112899769 GTA G 660 PASS - - - - - Del - D 112899769 112899772 2 42 589.897 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 6 5 7 48 33 48 33 5 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762016038 1 118697326 GA G 389 PASS SPAG17 CCDS899.1 r.? - - Del intronic D 118697326 118697329 1 20 367.726 - - 2 1 1 SPAG17|CCDS899.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG17|CCDS899.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 3 5 4 25 24 25 25 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762017235 1 142563384 TC T 268 PASS - - - - - Del - D 142563384 142563388 1 34 913.52 - - 3 1 1 - - ./. 0 0 0 0 70 74 70 74 0 0 ./. 1 16 2 21 84 215 85 215 3 21 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762018250 1 143275379 A AT 367 PASS - - - - - Ins - I 143275379 143275380 1 16 792.802 - - 0 1 1 - - ./. 0 0 0 0 53 33 54 33 0 0 ./. 0 15 0 18 138 120 141 120 0 19 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762020516 1 149025171 GAACCT G 259 PASS - - - - - Del - D 149025171 149025180 5 15 752.31 - - 1 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 0 14 0 11 34 80 34 85 0 16 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762021359 1 151254916 TG T 420 PASS ZNF687 CCDS992.1 r.? - - Del intronic D 151254916 151254925 1 18 368.93 - - 8 1 1 ZNF687|CCDS992.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF687|CCDS992.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 5 3 8 28 47 28 47 3 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762021884 1 153425747 TTC T 326 PASS S100A7 CCDS1039.1 r.? - - Del downstream D 153425747 153425751 2 12 312.184 - - 1 1 1 S100A7|CCDS1039.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 S100A7|CCDS1039.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 5 2 6 25 28 25 28 2 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762022580 1 155024994 ATTC A 716 PASS ADAM15 CCDS1087.1 r.? - - Del intronic D 155024994 155025003 3 48 747.494 - - 2 1 1 ADAM15|CCDS1087.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM15|ENST00000447332|r.181-12_181-10deluuc|c.80-12_80-10delttc|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:deletion:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:0000159:SO:CGPX04:SO:0001627:SO:0001576 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 11 5 13 29 27 29 27 5 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762023163 1 156595557 GGT G 300 PASS HAPLN2 CCDS1148.1 r.? - - Del downstream D 156595557 156595577 2 10 266.876 - - 9 1 1 HAPLN2|CCDS1148.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 HAPLN2|CCDS1148.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 12 6 12 6 0 0 ./. 1 4 2 3 38 43 38 43 2 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762023968 1 159333822 GT G 420 PASS OR10J1 ENST00000328408 r.? - - Del intronic D 159333822 159333830 1 20 376.155 - - 7 1 1 OR10J1|ENST00000328408|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OR10J1|ENST00000328408|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 4 3 5 25 27 25 27 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762024356 1 160557287 C CA 329 PASS - - - - - Ins - I 160557287 160557297 1 15 317.602 - - 9 1 - - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 4 2 13 10 43 33 45 34 13 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762024729 1 161501034 TGTATCCGTTTTACGCCTCAACGAA T 290 PASS HSPA7 CCDS1231.1 r.? - - Del downstream D 161501034 161501074 24 27 536.16 - - 1 1 1 HSPA7|CCDS1231.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 HSPA7|CCDS1231.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 8 0 7 14 31 16 32 2 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762025857 1 165098491 TGG T 629 PASS - - - - - Del - D 165098491 165098495 2 42 588.091 - - 3 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 6 5 8 5 26 23 26 23 8 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762027086 1 168963805 AATAGAGAC A 319 PASS - - - - - Del - D 168963805 168963815 8 42 590.499 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 5 7 5 41 27 41 27 7 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762027622 1 170632183 TTC T 300 PASS PRRX1 CCDS1291.1 r.? - - Del upstream D 170632183 170632202 2 10 264.468 - - 9 1 1 PRRX1|CCDS1291.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PRRX1|CCDS1291.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 4 13 4 13 0 0 ./. 1 4 1 4 29 23 29 23 1 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762028531 1 173976189 TA T 439 PASS - - - - - Del - D 173976189 173976191 1 24 429.892 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 3 5 5 20 31 20 31 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762029277 1 176392150 ATTTC A 358 PASS - - - - - Del - D 176392150 176392155 4 20 375.553 - - 1 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 4 3 5 5 26 35 26 35 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762029700 1 178461793 AG A 1080 PASS - - - - - Del - D 178461793 178461798 1 100 966.052 - - 4 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 9 9 9 13 31 44 31 44 9 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762031719 1 183755552 C CA 389 PASS RGL1 CCDS1359.1 r.? - - Ins intronic I 183755552 183755560 1 18 370.737 - - 7 1 1 RGL1|CCDS1359.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RGL1|CCDS1359.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 2 5 4 8 32 30 32 32 4 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762032467 1 186963993 A AACAT 807 PASS - - - - - Ins - I 186963993 186964000 4 70 765.709 - - 1 1 1 - - ./. 0 0 0 0 14 13 15 13 0 0 ./. 6 9 11 9 41 27 41 28 11 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762033211 1 188990181 GT G 720 PASS - - - - - Del - D 188990181 188990183 1 45 644.838 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 8 4 10 6 24 32 24 32 10 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762033937 1 191093424 AAT A 600 PASS - - - - - Del - D 191093424 191093430 2 35 537.365 - - 2 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 6 4 6 4 29 25 29 25 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762034549 1 193214398 TC T 300 PASS CDC73 CCDS1382.1 r.? - - Del intronic D 193214398 193214404 1 12 262.06 - - 5 1 1 CDC73|CCDS1382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC73|CCDS1382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 4 2 27 27 27 27 4 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762034558 1 193243305 TGA T 1020 PASS - - - - - Del - D 193243305 193243308 2 90 913.52 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 9 8 13 11 47 30 47 30 13 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762035960 1 198034797 AT A 480 PASS - - - - - Del - D 198034797 198034804 1 24 429.892 - - 6 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 3 6 4 24 35 24 35 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762039413 1 208679954 T TA 269 PASS - - - - - Ins - I 208679954 208679957 1 12 265.672 - - 2 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 3 2 6 2 21 21 21 22 6 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762039714 1 209804534 TA T 960 PASS LAMB3 CCDS1487.1 r.? - - Del intronic D 209804534 209804540 1 81 859.783 - - 5 1 1 LAMB3|CCDS1487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LAMB3|CCDS1487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 4 13 4 0 0 ./. 8 8 8 9 31 44 31 44 8 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762040186 1 211185916 C CTT 389 PASS KCNH1 CCDS31015.1 r.? - - Ins intronic I 211185916 211185918 2 18 367.726 - - 1 1 1 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 5 3 7 32 37 32 37 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762040833 1 212826942 TTCTCATTTTCAGGAGAAAC T 435 PASS - - - - - Del - D 212826942 212826962 19 70 801.832 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 9 6 8 6 21 21 22 21 9 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762041534 1 214798234 AC A 397 PASS CENPF CCDS31023.1 r.? - - Del intronic D 214798234 214798237 1 20 376.155 - - 2 1 1 CENPF|CCDS31023.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CENPF|CCDS31023.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 3 6 3 33 24 33 24 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762047117 1 232770249 T TC 420 PASS - - - - - Ins - I 232770249 232770250 1 18 370.135 - - 0 1 - - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 5 6 12 15 32 15 32 6 12 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762048312 1 236617220 C CTT 507 PASS EDARADD CCDS31065.1 r.? - - Ins intronic I 236617220 236617222 2 35 525.323 - - 1 1 1 EDARADD|CCDS31065.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EDARADD|CCDS31065.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 6 4 9 11 32 11 33 4 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762050799 1 242879062 GA G 840 PASS - - - - - Del - D 242879062 242879067 1 48 751.106 - - 4 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 11 3 16 8 34 35 34 35 16 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762051268 1 244357277 T TA 809 PASS - - - - - Ins - I 244357277 244357283 1 63 743.882 - - 5 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 8 6 9 8 27 27 28 27 9 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762051280 1 244397726 GGCT G 300 PASS - - - - - Del - D 244397726 244397747 3 12 268.682 - - 6 1 - - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 2 3 36 23 36 23 2 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762056242 10 7418222 TG T 1020 PASS SFMBT2 CCDS31138.1 r.? - - Del intronic D 7418222 7418224 1 70 915.375 - - 1 1 1 SFMBT2|CCDS31138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFMBT2|CCDS31138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 13 6 13 23 38 23 38 6 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762056746 10 8551814 GT G 360 PASS - - - - - Del - D 8551814 8551819 1 16 323.286 - - 4 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 3 4 6 36 20 36 20 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762058761 10 13445393 GTTCAAGTGAT G 319 PASS - - - - - Del - D 13445393 13445406 10 40 592.089 - - 1 1 1 - - ./. 0 0 0 0 14 5 14 5 0 0 ./. 7 4 7 5 42 25 42 25 7 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762058977 10 13912087 TG T 420 PASS FRMD4A CCDS7101.1 r.? - - Del intronic D 13912087 13912090 1 18 367.534 - - 2 1 1 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 5 2 6 2 33 22 33 22 6 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762060027 10 16810221 T TAC 929 PASS RSU1 CCDS7112.1 r.? - - Ins intronic I 16810221 16810222 2 77 841.626 - - 0 1 1 RSU1|CCDS7112.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RSU1|CCDS7112.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 10 6 16 8 35 27 35 27 16 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762062222 10 23927583 G GTGGC 449 PASS - - - - - Ins - I 23927583 23927591 4 24 409.374 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 3 6 3 26 21 26 21 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762064973 10 30793105 TC T 360 PASS - - - - - Del - D 30793105 30793107 1 12 318.47 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 5 1 5 12 29 12 29 1 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762066083 10 33847507 CCACCTG C 319 PASS - - - - - Del - D 33847507 33847514 6 40 592.691 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 7 4 7 4 26 28 26 28 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762067930 10 42365477 TC T 474 PASS - - - - - Del - D 42365477 42365480 1 12 592.691 - - 2 1 1 - - ./. 0 0 0 0 61 59 63 64 0 0 ./. 11 0 18 7 313 99 313 119 18 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762069430 10 43453314 TA T 480 PASS - - - - - Del - D 43453314 43453318 1 24 428.038 - - 3 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 3 7 6 35 26 35 26 7 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762070628 10 49460983 GA G 360 PASS FRMPD2 CCDS31195.1 r.? - - Del intronic D 49460983 49460987 1 15 323.286 - - 3 1 1 FRMPD2|CCDS31195.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMPD2|CCDS31195.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 11 22 11 0 0 ./. 4 2 6 2 30 33 30 33 6 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762071500 10 53222958 G GT 780 PASS PRKG1 CCDS7244.1 r.? - - Ins intronic I 53222958 53222968 1 54 690.82 - - 9 1 1 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 23 10 23 0 0 ./. 8 5 9 5 31 17 31 17 9 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762071501 10 53228193 AT A 420 PASS PRKG1 CCDS7244.1 r.? - - Del intronic D 53228193 53228198 1 20 377.167 - - 4 1 1 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 22 6 22 0 0 ./. 4 3 5 6 21 24 21 24 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762072038 10 54902710 AT A 600 PASS - - - - - Del - D 54902710 54902712 1 35 536.402 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 6 4 7 16 31 16 31 4 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762072520 10 56225512 AT A 360 PASS PCDH15 CCDS44404.1 r.? - - Del intronic D 56225512 56225514 1 16 323.286 - - 1 1 1 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 4 5 24 33 24 33 4 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762075902 10 67034834 TC T 540 PASS - - - - - Del - D 67034834 67034836 1 28 484.929 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 6 3 7 19 36 19 36 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762076242 10 68021952 GAA G 540 PASS CTNNA3 CCDS7269.1 r.? - - Del intronic D 68021952 68021955 2 28 484.929 - - 2 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 6 4 7 27 35 27 35 4 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762076478 10 68798070 TC T 960 PASS LRRTM3 CCDS7270.1 r.? - - Del intronic D 68798070 68798072 1 77 862.096 - - 1 1 1 LRRTM3|CCDS7270.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRTM3|CCDS7270.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 10 6 10 20 24 20 24 6 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762077229 10 70780139 ATACAAG A 261 PASS KIAA1279 CCDS7284.1 r.? - - Del downstream D 70780139 70780154 6 28 484.929 - - 2 1 1 KIAA1279|CCDS7284.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KIAA1279|CCDS7284.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 6 6 9 27 27 27 27 6 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762078035 10 73394566 G GA 540 PASS CDH23 CCDS44429.1 r.? - - Ins intronic I 73394566 73394570 1 28 479.511 - - 3 1 1 CDH23|CCDS44429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDH23|CCDS44429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 6 3 6 6 36 42 36 42 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762078898 10 75936331 AC A 660 PASS ADK CCDS7344.1 r.? - - Del upstream D 75936331 75936334 1 40 592.691 - - 2 1 1 ADK|CCDS7344.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ADK|CCDS7343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 7 4 7 5 37 36 37 36 7 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762079689 10 78786848 C CA 600 PASS KCNMA1 CCDS7352.1 r.? - - Ins intronic I 78786848 78786856 1 32 532.79 - - 7 1 1 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 18 0 0 ./. 3 7 8 11 23 36 25 36 8 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762080866 10 83193160 TC T 420 PASS - - - - - Del - D 83193160 83193162 1 18 377.167 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 5 2 5 27 17 27 17 2 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762081262 10 84981380 TTCC T 389 PASS - - - - - Del - D 84981380 84981387 3 20 375.963 - - 2 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 4 3 4 23 25 23 25 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762081702 10 86383056 TG T 360 PASS - - - - - Del - D 86383056 86383059 1 15 323.286 - - 2 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 4 2 6 15 34 15 34 2 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762082562 10 89894206 ATAATCACAACTACCACAACCATGGCCACCACCATCATTATGGCCATCA ACCACCTCACCACCACCACCACAAAGG 261 PASS - - - - - Complex - DI 89894207 89894254 48 28 0 - - 0 1 - - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 3 6 0 0 43 27 45 33 3 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762082666 10 90456011 ACTG A 298 PASS - - - - - Del - D 90456011 90456017 3 15 320.276 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 4 3 4 31 17 31 17 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762082872 10 91170260 TA T 660 PASS IFIT5 CCDS7403.1 r.? - - Del upstream D 91170260 91170262 1 40 590.885 - - 1 1 1 IFIT5|CCDS7403.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LIPA|ENST00000371837|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 7 6 7 26 33 26 33 6 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762085295 10 99216469 AG A 480 PASS MMS19 CCDS7464.1 r.? - - Del downstream D 99216469 99216472 1 21 430.446 - - 2 1 1 MMS19|CCDS7464.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZDHHC16|CCDS7460.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 6 2 6 3 24 27 24 27 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762086314 10 102330180 CTG C 300 PASS - - - - - Del - D 102330180 102330196 2 12 269.405 - - 7 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 2 3 2 37 32 37 32 3 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762087403 10 105383022 AG A 300 PASS SH3PXD2A CCDS31278.1 r.? - - Del intronic D 105383022 105383027 1 12 268.803 - - 4 1 1 SH3PXD2A|CCDS31278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3PXD2A|CCDS31278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 3 5 5 42 33 42 33 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762087554 10 105798586 CTGTT C 507 PASS COL17A1 CCDS7554.1 r.? - - Del intronic D 105798586 105798591 4 36 536.402 - - 1 1 1 COL17A1|CCDS7554.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL17A1|CCDS7554.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 5 6 5 34 36 34 37 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762087738 10 106677578 CT C 360 PASS SORCS3 CCDS7558.1 r.? - - Del intronic D 106677578 106677585 1 16 323.286 - - 6 1 1 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 3 3 3 4 22 25 22 25 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762088887 10 111167713 T TG 540 PASS - - - - - Ins - I 111167713 111167716 1 28 478.909 - - 2 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 6 5 7 32 34 32 36 5 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762089942 10 114872453 A AT 300 PASS TCF7L2 CCDS7576.1 r.? - - Ins intronic I 114872453 114872457 1 12 266.395 - - 3 1 1 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 2 3 6 30 42 31 43 3 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762092983 10 123991186 A AG 420 PASS TACC2 CCDS7626.1 r.? - - Ins intronic I 123991186 123991189 1 14 372.953 - - 2 1 1 TACC2|CCDS7626.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TACC2|CCDS7626.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 1 6 3 6 29 32 29 32 3 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762093227 10 124802763 CAGGTGTCAA C 348 PASS ACADSB CCDS7634.1 r.? - - Del intronic D 124802763 124802774 9 40 645.97 - - 1 1 1 ACADSB|CCDS7634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACADSB|CCDS7634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 9 3 9 3 35 25 35 25 9 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762093297 10 125015145 CCACCACCACCACCATCACCATCATCA C 449 PASS - - - - - Del - D 125015145 125015186 26 21 417.803 - - 1 1 - - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 2 0 0 36 44 36 44 6 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762096541 10 134287551 GT G 360 PASS - - - - - Del - D 134287551 134287553 1 7 313.051 - - 1 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 6 0 18 0 38 17 38 17 18 0 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762099354 11 6476360 GC G 540 PASS TRIM3 CCDS7764.1 r.? - - Del intronic D 6476360 6476363 1 24 486.397 - - 2 1 1 TRIM3|CCDS7764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIM3|CCDS7764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 12 5 12 0 0 ./. 2 7 3 8 23 30 23 30 3 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762100111 11 8944958 CTCT C 689 PASS C11orf16 CCDS7794.1 r.? - - Del intronic D 8944958 8944966 3 40 648.53 - - 2 1 1 C11orf16|CCDS7794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C11orf16|CCDS7794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 9 5 9 21 29 21 29 5 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762101867 11 14249087 CA C 300 PASS SPON1 ENST00000310358 r.? - - Del intronic D 14249087 14249089 1 12 266.006 - - 1 1 1 SPON1|ENST00000310358|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPON1|ENST00000310358|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 8 19 8 0 0 ./. 2 3 2 4 24 22 24 22 2 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762106336 11 28173528 GA G 420 PASS METT5D1 CCDS31450.1 r.? - - Del intronic D 28173528 28173532 1 20 378.309 - - 3 1 1 METT5D1|CCDS31450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 METT5D1|CCDS31450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 4 5 5 23 21 23 21 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762106658 11 29419395 GC G 540 PASS - - - - - Del - D 29419395 29419397 1 18 486.397 - - 1 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 8 1 10 2 23 22 23 22 10 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762107310 11 32208741 GA G 300 PASS - - - - - Del - D 32208741 32208747 1 12 270.221 - - 5 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 3 2 7 3 27 28 27 28 7 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762107719 11 33235383 A AT 420 PASS - - - - - Ins - I 33235383 33235390 1 14 373.493 - - 6 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 6 6 8 15 21 15 21 6 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762109741 11 39764134 GCT G 300 PASS - - - - - Del - D 39764134 39764151 2 12 270.221 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 3 3 35 23 35 23 3 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762109957 11 40540533 TAC T 517 PASS - - - - - Del - D 40540533 40540537 2 30 486.397 - - 1 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 4 5 6 6 25 27 25 27 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762110860 11 43576719 T TC 900 PASS MIR670 ENST00000390142 r.? - - Ins upstream I 43576719 43576729 1 72 795.009 - - 9 1 1 MIR670|ENST00000390142|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 MIR670|ENST00000390142|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 8 14 9 14 0 0 ./. 8 7 9 14 22 35 22 35 9 14 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762111320 11 45172368 GT G 300 PASS PRDM11 CCDS7912.1 r.? - - Del intronic D 45172368 45172375 1 12 270.221 - - 6 1 1 PRDM11|CCDS7912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRDM11|CCDS7912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 3 3 4 18 28 18 28 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762113659 11 55794410 C CA 360 PASS OR5AS1 CCDS31516.1 r.? - - Ins upstream I 55794410 55794414 1 16 320.653 - - 3 1 1 OR5AS1|CCDS31516.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 OR5AS1|CCDS31516.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 11 5 11 5 0 0 ./. 3 3 9 6 19 18 19 18 9 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762113993 11 57294342 CGT C 809 PASS TIMM10 CCDS7959.1 r.? - - Del downstream D 57294342 57294347 2 63 753.608 - - 2 1 1 TIMM10|CCDS7959.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TIMM10|CCDS7959.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 6 8 6 0 0 ./. 6 8 7 10 18 19 18 19 7 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762114171 11 58097366 AT A 1620 PASS - - - - - Del - D 58097366 58097369 1 180 1457.99 - - 2 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 8 19 12 24 23 31 23 31 12 24 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762117528 11 69895837 GT G 720 PASS - - - - - Del - D 69895837 69895845 1 49 647.326 - - 7 1 - - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 6 6 9 11 30 31 30 31 9 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762117861 11 70860559 GACA GAT 600 PASS SHANK2 ENST00000338508 r.? - - Complex upstream DI 70860560 70860562 3 35 0 - - 0 1 1 SHANK2|ENST00000338508|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 SHANK2|ENST00000413503|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 3 8 3 8 0 0 ./. 4 6 0 0 25 37 25 37 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762118210 11 71914038 C CT 749 PASS - - - - - Ins - I 71914038 71914046 1 56 694.747 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 7 6 10 11 37 28 38 28 10 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762119152 11 74698373 CA C 360 PASS NEU3 CCDS44682.1 r.? - - Del upstream D 74698373 74698375 1 15 323.061 - - 1 1 1 NEU3|CCDS44682.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 NEU3|CCDS44682.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 4 4 4 15 27 15 27 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762122000 11 84630584 GA G 420 PASS DLG2 CCDS41696.1 r.? - - Del intronic D 84630584 84630586 1 18 378.309 - - 1 1 1 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 2 5 2 29 33 29 33 5 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762124251 11 92915888 AAAGCACAGT A 319 PASS SLC36A4 CCDS8291.1 r.? - - Del intronic D 92915888 92915899 9 42 594.486 - - 1 1 1 SLC36A4|CCDS8291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC36A4|CCDS8291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 5 6 5 5 16 20 16 21 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762124630 11 94442016 CAATT C 778 PASS - - - - - Del - D 94442016 94442021 4 63 756.618 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 8 6 8 6 20 11 20 11 8 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762126517 11 101564457 GA G 480 PASS - - - - - Del - D 101564457 101564459 1 24 432.353 - - 1 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 3 8 4 19 6 19 6 8 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762127083 11 103637044 TAA T 629 PASS - - - - - Del - D 103637044 103637050 2 42 594.486 - - 5 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 5 6 7 9 20 31 20 31 7 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762132542 11 123648340 C CA 600 PASS - - - - - Ins - I 123648340 123648343 1 35 534.421 - - 2 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 6 8 8 33 24 34 25 8 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762134685 11 130053768 ACACCC A 509 PASS ST14 CCDS8487.1 r.? - - Del intronic D 130053768 130053776 5 30 483.989 - - 1 1 1 ST14|CCDS8487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST14|CCDS8487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 5 4 7 4 43 24 43 24 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762140650 12 13036779 T TGA 360 PASS - - - - - Ins - I 13036779 13036782 2 15 312.251 - - 1 1 1 - - ./. 0 0 0 0 15 4 15 4 0 0 ./. 2 4 5 8 26 29 27 29 5 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762143548 12 22627943 G GA 420 PASS KIAA0528 CCDS31758.1 r.? - - Ins intronic I 22627943 22627946 1 14 374.126 - - 2 1 1 KIAA0528|CCDS31758.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA0528|CCDS31758.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 1 7 2 27 12 28 12 7 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762145336 12 28169329 GT G 540 PASS - - - - - Del - D 28169329 28169335 1 30 486.438 - - 5 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 5 4 6 32 31 32 31 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762147577 12 37930764 CA C 905 PASS - - - - - Del - D 37930764 37930769 1 72 864.779 - - 4 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 5 11 10 15 22 21 22 21 10 15 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762147683 12 38409460 AAC A 420 PASS - - - - - Del - D 38409460 38409465 2 14 378.341 - - 2 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 1 7 1 24 14 24 14 7 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762147962 12 39506827 A AT 840 PASS - - - - - Ins - I 39506827 39506836 1 60 746.447 - - 8 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 5 9 9 9 27 21 29 21 9 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762150018 12 47191836 C CTAAG 445 PASS SLC38A4 CCDS8750.1 r.? - - Ins intronic I 47191836 47191837 4 35 513.996 - - 0 1 1 SLC38A4|CCDS8750.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SLC38A4|CCDS8750.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 6 4 5 23 28 24 29 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762152439 12 54488075 AT A 288 PASS - - - - - Del - D 54488075 54488080 1 13 648.584 - - 4 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 12 0 14 1 39 31 39 31 14 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762155616 12 65213577 AG A 718 PASS TBC1D30 ENST00000229088 r.? - - Del intronic D 65213577 65213579 1 50 702.633 - - 1 1 1 TBC1D30|ENST00000229088|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D30|ENST00000229088|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 9 4 10 6 34 30 34 30 10 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762158076 12 73911946 CTTA C 329 PASS - - - - - Del - D 73911946 73911953 3 12 324.292 - - 2 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 1 5 1 6 8 23 8 23 1 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762158607 12 75858222 TTATTAATTCTGAGTTCTAATTTGA T 435 PASS - - - - - Del - D 75858222 75858248 24 70 808.322 - - 1 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 9 6 7 5 30 26 33 27 10 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762158905 12 76906851 AGCAT A 298 PASS OSBPL8 CCDS31862.1 r.? - - Del intronic D 76906851 76906858 4 15 324.292 - - 1 1 1 OSBPL8|CCDS31862.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 OSBPL8|CCDS31862.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 2 9 3 27 19 27 19 9 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762159894 12 80615239 G GA 360 PASS - - - - - Ins - I 80615239 80615241 1 12 318.874 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 1 6 6 21 20 22 20 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762161373 12 87028781 AG A 540 PASS - - - - - Del - D 87028781 87028783 1 28 485.234 - - 1 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 3 6 4 9 23 20 23 20 4 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762162318 12 91297546 AC A 300 PASS - - - - - Del - D 91297546 91297549 1 10 270.243 - - 2 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 4 4 4 19 29 19 29 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762164067 12 96270526 AC A 780 PASS CCDC38 CCDS9056.1 r.? - - Del intronic D 96270526 96270529 1 54 702.633 - - 2 1 1 CCDC38|CCDS9056.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC38|CCDS9056.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 8 5 10 13 21 32 21 32 10 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762166218 12 104282923 GT G 478 PASS - - - - - Del - D 104282923 104282925 1 30 483.428 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 5 6 5 24 29 24 29 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762166730 12 105968177 AC A 360 PASS - - - - - Del - D 105968177 105968179 1 12 324.292 - - 1 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 1 5 1 23 24 23 24 5 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762166737 12 105991031 AC A 360 PASS - - - - - Del - D 105991031 105991035 1 16 324.292 - - 3 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 3 3 4 15 19 15 19 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762166761 12 106068779 TC T 660 PASS - - - - - Del - D 106068779 106068781 1 42 587.913 - - 1 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 6 5 7 5 28 30 28 30 7 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762167254 12 108087116 G GT 540 PASS PWP1 CCDS9114.1 r.? - - Ins intronic I 108087116 108087126 1 30 468.376 - - 9 1 1 PWP1|CCDS9114.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PWP1|CCDS9114.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 13 12 0 0 ./. 4 5 8 7 23 18 24 18 8 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762169114 12 114723927 AT A 360 PASS - - - - - Del - D 114723927 114723931 1 16 324.292 - - 3 1 1 - - ./. 0 0 0 0 22 10 22 10 0 0 ./. 3 3 5 6 23 24 23 24 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762171049 12 120901617 GGCTTTGTCCACCTAAGATA G 348 PASS SFRS9 CCDS9199.1 r.? - - Del intronic D 120901617 120901638 19 45 643.768 - - 1 1 1 SFRS9|CCDS9199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFRS9|CCDS9199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 8 4 8 4 41 21 41 21 8 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762171469 12 121746050 GT G 600 PASS ANAPC5 CCDS9220.1 r.2622delA c.? p.? Del 3'UTR variant D 121746050 121746053 1 32 540.487 - - 2 1 1 ANAPC5|CCDS9220.1|r.2622delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ANAPC5|CCDS9220.1|r.2622delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 16 12 16 12 0 0 ./. 7 3 9 4 33 30 33 30 9 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762172495 12 124181017 C CA 960 PASS TCTN2 CCDS9253.1 r.1496_1497insa c.1368_1369insA p.T457fs*39 Ins frameshift I 124181017 124181019 1 80 852.738 - - 1 1 1 TCTN2|CCDS9253.1|r.1496_1497insa|c.1368_1369insA|p.T457fs*39|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 TCTN2|CCDS9253.1|r.1496_1497insa|c.1368_1369insA|p.T457fs*39|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 6 9 6 9 0 0 ./. 7 9 9 13 23 24 23 25 9 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762173599 12 127645443 CAAT C 296 PASS - - - - - Del - D 127645443 127645447 3 18 378.341 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 2 4 2 20 19 21 19 5 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762173667 12 127852642 A AT 360 PASS - - - - - Ins - I 127852642 127852648 1 15 320.68 - - 5 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 4 2 5 2 24 20 24 20 5 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762180566 13 31856446 G GT 300 PASS B3GALTL CCDS9341.1 r.? - - Ins intronic I 31856446 31856454 1 12 267.688 - - 7 1 1 B3GALTL|CCDS9341.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 B3GALTL|CCDS9341.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 5 5 10 13 11 13 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762181579 13 35838168 GAAA G 418 PASS NBEA CCDS45026.1 r.? - - Del intronic D 35838168 35838175 3 24 432.876 - - 6 1 1 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 3 5 5 8 16 20 16 20 5 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762184067 13 44483105 CCTT C 509 PASS - - - - - Del - D 44483105 44483114 3 30 488.34 - - 2 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 5 4 6 17 22 17 22 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762185701 13 50664197 CAA C 420 PASS DLEU1 ENST00000378180 r.? - - Del intronic D 50664197 50664202 2 20 379.82 - - 4 1 1 DLEU1|ENST00000378180|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLEU1|ENST00000378180|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 3 4 3 11 11 11 11 4 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762188056 13 60378018 ACAGAATTT A 319 PASS DIAPH3 CCDS41898.1 r.? - - Del intronic D 60378018 60378030 8 40 596.86 - - 1 1 1 DIAPH3|CCDS41898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIAPH3|CCDS41898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 7 4 6 6 18 15 19 15 7 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762191458 13 71788342 TG T 300 PASS - - - - - Del - D 71788342 71788345 1 12 271.3 - - 2 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 4 3 15 10 15 10 4 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762191824 13 73297861 TTG T 360 PASS C13orf34 CCDS9446.1 r.? - - Del upstream D 73297861 73297866 2 16 325.56 - - 2 1 1 C13orf34|CCDS9446.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 C13orf37|CCDS31990.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 3 5 4 13 16 13 16 5 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762191941 13 73764278 G GT 480 PASS - - - - - Ins - I 73764278 73764286 1 24 428.06 - - 7 1 1 - - ./. 0 0 0 0 15 13 16 13 0 0 ./. 5 3 5 5 20 15 20 15 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762193744 13 80476020 ACTGGTGG A 261 PASS - - - - - Del - D 80476020 80476029 7 28 488.34 - - 1 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 6 4 8 18 22 18 22 4 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762198118 13 96440246 AAG A 360 PASS DNAJC3 CCDS9479.1 r.? - - Del intronic D 96440246 96440253 2 15 324.958 - - 3 1 1 DNAJC3|CCDS9479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC3|CCDS9479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 2 5 4 15 12 15 12 5 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762200177 13 103865919 CT C 300 PASS - - - - - Del - D 103865919 103865921 1 12 271.3 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 4 4 12 20 12 20 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762201776 13 109290546 AG A 360 PASS MYO16 CCDS32008.1 r.? - - Del intronic D 109290546 109290550 1 16 325.56 - - 3 1 1 MYO16|CCDS32008.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MYO16|CCDS32008.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 5 4 10 13 10 13 5 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762202221 13 110679032 CAG C 360 PASS - - - - - Del - D 110679032 110679039 2 15 325.56 - - 3 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 2 4 2 16 17 16 17 4 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762203161 13 114487480 CAG C 300 PASS FAM70B CCDS45071.1 r.? - - Del intronic D 114487480 114487498 2 12 266.484 - - 8 1 1 FAM70B|CCDS45071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM70B|CCDS45071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 3 2 27 22 27 22 3 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762207896 14 32940775 TCTC T 565 PASS AKAP6 CCDS9644.1 r.? - - Del intronic D 32940775 32940781 3 40 650.396 - - 1 1 1 AKAP6|CCDS9644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AKAP6|CCDS9644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 9 3 10 41 34 41 34 3 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762210705 14 41216249 TG T 360 PASS - - - - - Del - D 41216249 41216254 1 12 323.994 - - 4 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 1 8 1 41 13 41 13 8 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762211920 14 45305638 A ACT 329 PASS - - - - - Ins - I 45305638 45305641 2 16 316.167 - - 1 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 3 6 4 31 35 33 35 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762214820 14 53492141 G GCTTTC 447 PASS - - - - - Ins - I 53492141 53492148 5 28 460.704 - - 1 1 1 - - ./. 0 0 0 0 14 8 16 8 0 0 ./. 3 6 5 7 37 49 37 51 5 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762215697 14 56233190 TC T 449 PASS - - - - - Del - D 56233190 56233194 1 24 426.372 - - 3 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 5 3 5 3 33 36 33 36 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762217268 14 61033315 CAG C 300 PASS - - - - - Del - D 61033315 61033318 2 10 270.998 - - 1 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 1 4 2 7 24 29 24 29 2 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762218572 14 64398279 A AG 389 PASS SYNE2 CCDS9761.2 r.? - - Ins intronic I 64398279 64398280 1 20 352.907 - - 0 1 - SYNE2|CCDS9761.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SYNE2|CCDS9761.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 3 7 6 21 11 22 11 7 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762220474 14 70517362 CA C 540 PASS SLC8A3 CCDS35498.1 r.? - - Del intronic D 70517362 70517366 1 18 486.592 - - 3 1 1 SLC8A3|CCDS35498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC8A3|CCDS35498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 8 1 9 28 35 28 35 1 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762220623 14 70940469 GC G 600 PASS - - - - - Del - D 70940469 70940472 1 20 540.792 - - 2 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 1 9 1 9 6 41 6 41 1 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762223780 14 79005808 CT C 439 PASS - - - - - Del - D 79005808 79005817 1 21 433.597 - - 8 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 2 6 2 10 25 28 25 28 2 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762225920 14 88283386 A AAT 420 PASS - - - - - Ins - I 88283386 88283388 2 20 369.162 - - 0 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 3 7 6 23 17 23 18 7 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762228344 14 97720246 CTAAAA C 418 PASS - - - - - Del - D 97720246 97720253 5 25 433.597 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 4 6 5 21 18 21 18 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762230409 14 106089328 G GGGGGACAGCGTCAGGGACAGGTGGGGACAGCCT 286 PASS - - - - - Ins - I 106089328 106089337 33 35 339.102 - - 0 1 1 - - ./. 0 0 0 0 21 11 21 11 0 0 ./. 6 4 0 0 45 23 51 25 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762230919 14 107083457 A ACCACTG 285 PASS - - - - - Ins - I 107083457 107083459 6 52 757.605 - - 0 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 12 3 14 4 33 21 33 21 14 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762231227 15 20121011 CA C 345 PASS - - - - - Del - D 20121011 20121015 1 56 704.88 - - 3 1 1 - - ./. 0 0 0 0 44 59 44 60 0 0 ./. 7 6 15 10 265 233 265 236 15 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762231859 15 21905349 G GC 600 PASS - - - - - Ins - I 21905349 21905352 1 27 535.315 - - 2 1 1 - - ./. 0 0 0 0 40 28 40 28 0 0 ./. 8 2 10 3 68 38 68 39 10 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762232671 15 24190795 TAGGTA T 360 PASS - - - - - Del - D 24190795 24190801 5 16 325.885 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 4 5 11 20 11 20 4 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762232915 15 24796104 AG A 477 PASS - - - - - Del - D 24796104 24796107 1 24 432.707 - - 2 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 5 3 7 5 21 21 21 21 7 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762234317 15 30372750 T TTC 275 PASS ENSG00000179938 ENST00000341650 r.? - - Ins upstream I 30372750 30372754 2 15 318.66 - - 1 1 1 ENSG00000179938|ENST00000341650|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ENSG00000179938|ENST00000341650|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 4 3 9 13 25 13 25 3 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762241006 15 56549614 TA T 300 PASS - - - - - Del - D 56549614 56549619 1 12 269.765 - - 4 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 2 5 20 18 20 18 2 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762242041 15 60303994 CACT C 418 PASS - - - - - Del - D 60303994 60303998 3 16 434.513 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 7 1 7 3 11 17 11 17 7 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762247588 15 82400894 CT C 885 PASS - - - - - Del - D 82400894 82400900 1 42 813.508 - - 5 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 13 2 15 2 20 10 20 10 15 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762250888 15 95617867 GAATGC G 358 PASS - - - - - Del - D 95617867 95617877 5 20 377.189 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 3 5 3 24 17 24 17 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762251286 15 97336011 CA C 360 PASS - - - - - Del - D 97336011 97336014 1 15 325.885 - - 2 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 2 7 5 17 20 17 20 7 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762251389 15 97621156 CT C 480 PASS - - - - - Del - D 97621156 97621159 1 21 433.309 - - 2 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 6 2 6 19 13 19 13 2 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762253044 16 592071 A AGGACGTGGCTGGCTGGGTTTGCCTTGTGCAGAAGGTGCGT 261 PASS SOLH CCDS10410.1 r.? - - Ins intronic I 592071 592080 40 30 269.263 - - 0 1 1 SOLH|CCDS10410.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SOLH|CCDS10410.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 4 0 0 31 47 33 47 5 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762253139 16 976912 GGTC G 656 PASS LMF1 CCDS45373.1 r.? - - Del intronic D 976912 976916 3 54 697.725 - - 1 1 1 LMF1|CCDS45373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMF1|CCDS45373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 8 6 9 41 37 41 37 6 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762253330 16 1537176 A AC 447 PASS C16orf38 CCDS32362.1 r.? - - Ins intronic I 1537176 1537185 1 28 478.78 - - 8 1 1 C16orf38|CCDS32362.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C16orf38|CCDS32362.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 12 13 0 0 ./. 3 6 4 6 51 32 51 32 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762253982 16 3420358 AT A 600 PASS - - - - - Del - D 3420358 3420360 1 35 541.343 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 4 6 7 20 28 20 28 6 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762254492 16 4682901 CG C 420 PASS MGRN1 CCDS45402.1 r.? - - Del intronic D 4682901 4682904 1 18 377.134 - - 2 1 1 MGRN1|CCDS45402.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MGRN1|CCDS45402.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 2 7 4 30 29 30 29 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762256326 16 8977454 AAACACACCACC A 261 PASS - - - - - Del - D 8977454 8977466 11 30 486.004 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 5 4 5 35 25 35 25 4 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762258379 16 13682068 CAATT C 267 PASS - - - - - Del - D 13682068 13682075 4 15 324.806 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 2 5 2 25 22 25 22 5 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762260846 16 20929823 GA G 540 PASS LYRM1 CCDS10593.1 r.? - - Del intronic D 20929823 20929829 1 28 487.209 - - 5 1 1 LYRM1|CCDS10593.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LYRM1|CCDS10593.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 6 3 9 19 30 19 30 3 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762261675 16 23671291 GA G 360 PASS DCTN5 CCDS10615.1 r.? - - Del intronic D 23671291 23671294 1 7 324.806 - - 2 1 1 DCTN5|CCDS10615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCTN5|CCDS10615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 6 0 7 1 25 34 25 34 7 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762262194 16 24814701 C CT 360 PASS TNRC6A CCDS10624.2 r.? - - Ins intronic I 24814701 24814703 1 12 313.367 - - 1 1 1 TNRC6A|CCDS10624.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TNRC6A|CCDS10624.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 5 3 7 21 35 21 36 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762263125 16 27169987 TA T 660 PASS - - - - - Del - D 27169987 27169989 1 42 593.671 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 6 6 9 31 43 31 43 6 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762264680 16 31814342 G GT 420 PASS - - - - - Ins - I 31814342 31814346 1 20 374.726 - - 3 1 1 - - ./. 0 0 0 0 8 2 8 2 0 0 ./. 3 4 12 6 50 34 50 34 12 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762268504 16 49350294 GAATTGAAAAAGGAAC G 261 PASS - - - - - Del - D 49350294 49350312 15 28 487.209 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 3 6 2 29 29 29 30 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762269102 16 51208886 TC T 1440 PASS - - - - - Del - D 51208886 51208890 1 165 1299.22 - - 3 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 10 14 12 20 37 44 37 44 12 20 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762269115 16 51252366 GA G 300 PASS - - - - - Del - D 51252366 51252376 1 12 270.671 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 3 3 23 27 23 27 3 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762270570 16 55859618 GA G 629 PASS CES1 CCDS32450.1 r.? - - Del intronic D 55859618 55859620 1 42 594.273 - - 1 1 1 CES1|CCDS32450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CES1|CCDS32450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 6 5 8 8 36 44 36 44 8 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762271011 16 57262822 GTC G 300 PASS RSPRY1 CCDS10775.1 r.? - - Del intronic D 57262822 57262827 2 10 270.671 - - 2 1 1 RSPRY1|CCDS10775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RSPRY1|CCDS10775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 1 5 2 35 15 35 15 5 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762273226 16 63392995 C CA 300 PASS - - - - - Ins - I 63392995 63393004 1 10 265.253 - - 8 1 1 - - ./. 0 0 0 0 7 13 8 13 0 0 ./. 4 1 6 2 22 22 22 22 6 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762273814 16 65418794 GGC G 360 PASS AC009055.1 ENST00000505989 r.? - - Del intronic D 65418794 65418797 2 15 321.795 - - 1 1 1 AC009055.1|ENST00000505989|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC009055.1|ENST00000505989|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 4 2 4 23 36 23 36 2 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762275665 16 72245283 TTCCCCATACAAACATTC T 261 PASS - - - - - Del - D 72245283 72245303 17 28 487.209 - - 1 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 6 4 6 22 13 22 13 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762282193 17 3795499 C CCA 629 PASS CAMKK1 CCDS11038.1 r.? - - Ins intronic I 3795499 3795501 2 42 572.596 - - 0 1 1 CAMKK1|CCDS11038.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CAMKK1|CCDS11038.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 6 5 11 7 21 22 21 23 11 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762286222 17 16485555 GC G 360 PASS - - - - - Del - D 16485555 16485558 1 15 325.132 - - 2 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 2 5 2 20 31 20 31 5 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762289891 17 28165928 ACGTGCC A 435 PASS SSH2 CCDS11253.1 r.? - - Del intronic D 28165928 28165936 6 72 807.412 - - 1 1 1 SSH2|CCDS11253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SSH2|CCDS11253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 8 7 8 7 43 32 43 32 8 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762290496 17 29844652 TGC T 360 PASS RAB11FIP4 CCDS11267.1 r.? - - Del intronic D 29844652 29844655 2 12 325.132 - - 1 1 1 RAB11FIP4|CCDS11267.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB11FIP4|CCDS11267.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 5 1 8 2 35 21 35 21 8 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762293299 17 38941797 AGTC A 478 PASS KRT27 CCDS11375.1 r.? - - Del upstream D 38941797 38941801 3 18 487.699 - - 1 1 1 KRT27|CCDS11375.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KRT27|CCDS11375.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 6 12 6 12 0 0 ./. 8 1 11 2 32 16 32 16 11 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762294015 17 40997074 AC A 480 PASS AOC2 CCDS11443.1 r.467delC c.432delC p.S146fs*6 Del frameshift D 40997074 40997079 1 24 432.908 - - 4 1 1 AOC2|CCDS11443.1|r.467delC|c.432delC|p.S146fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 AOC2|CCDS11443.1|r.467delC|c.432delC|p.S146fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 5 3 5 34 47 34 47 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762300595 17 61571686 CT C 540 PASS ACE CCDS11637.1 r.? - - Del intronic D 61571686 61571688 1 30 487.699 - - 1 1 1 ACE|CCDS11637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACE|CCDS11637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 4 5 6 9 28 39 28 39 6 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762301481 17 64298925 CG C 540 PASS PRKCA CCDS11664.1 r.1delG c.? p.? Del 5'UTR variant D 64298925 64298928 1 30 468.433 - - 2 1 1 PRKCA|CCDS11664.1|r.1delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 PRKCA|CCDS11664.1|r.1delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 4 10 7 25 14 25 14 10 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762305297 17 74828971 CA C 277 PASS - - - - - Del - D 74828971 74828977 1 10 270.944 - - 5 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 1 7 1 31 14 31 14 7 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762305406 17 75065275 AC A 540 PASS - - - - - Del - D 75065275 75065279 1 28 485.892 - - 3 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 6 8 7 29 27 29 27 8 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762306194 17 77203004 CAT C 503 PASS ENSG00000167281 CCDS45805.1 r.? - - Del intronic D 77203004 77203007 2 24 650.265 - - 1 1 1 ENSG00000167281|CCDS45805.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000167281|CCDS45805.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 11 3 14 26 40 26 40 3 14 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762306565 17 78332926 A AC 300 PASS RNF213 CCDS32761.1 r.? - - Ins intronic I 78332926 78332932 1 12 267.331 - - 5 1 1 RNF213|CCDS32761.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF213|CCDS32761.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 3 5 6 16 20 18 20 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762309206 18 3846660 T TA 480 PASS DLGAP1 CCDS11836.1 r.? - - Ins intronic I 3846660 3846666 1 24 429.699 - - 5 1 1 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 3 9 4 23 11 23 11 9 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762309497 18 4996119 T TA 420 PASS - - - - - Ins - I 4996119 4996122 1 18 375.986 - - 2 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 5 3 5 23 23 23 23 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762311381 18 12247879 GCA G 598 PASS - - - - - Del - D 12247879 12247883 2 42 597.458 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 6 5 7 8 15 20 15 20 7 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762312875 18 20108270 CTTTCAA C 290 PASS - - - - - Del - D 20108270 20108279 6 32 537.124 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 7 3 8 4 26 18 26 18 9 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762314853 18 28561790 AG A 900 PASS - - - - - Del - D 28561790 28561794 1 72 814.716 - - 3 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 8 7 9 7 13 14 13 14 9 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762317911 18 41764322 CT C 480 PASS - - - - - Del - D 41764322 41764332 1 24 434.515 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 3 7 3 20 16 20 16 7 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762318577 18 45074157 CACCTG C 478 PASS - - - - - Del - D 45074157 45074163 5 30 488.83 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 4 6 5 25 16 25 16 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762319227 18 47649933 C CA 480 PASS MYO5B CCDS42436.1 r.? - - Ins intronic I 47649933 47649940 1 24 429.699 - - 6 1 1 MYO5B|CCDS42436.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYO5B|CCDS42436.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 5 6 7 15 13 15 13 6 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762319451 18 48661621 TG T 389 PASS - - - - - Del - D 48661621 48661625 1 20 371.17 - - 3 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 3 6 4 18 11 18 11 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762324568 18 67418215 AT A 720 PASS DOK6 CCDS32841.1 r.? - - Del intronic D 67418215 67418218 1 48 649.967 - - 2 1 1 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 7 5 7 13 22 13 22 5 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762327828 19 1147271 TGCCCCCCACGG T 261 PASS SBNO2 CCDS45894.1 r.? - - Del intronic D 1147271 1147283 11 24 486.868 - - 1 1 1 SBNO2|CCDS45894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SBNO2|CCDS45894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 7 2 7 31 46 31 47 2 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762328202 19 2072194 CTT C 329 PASS MOBKL2A CCDS12081.1 r.2205_2206delAA c.? p.? Del 3'UTR variant D 2072194 2072199 2 16 323.174 - - 4 1 1 MOBKL2A|CCDS12081.1|r.2205_2206delAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 MOBKL2A|CCDS12081.1|r.2205_2206delAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 3 5 5 27 26 27 26 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762329214 19 4314605 TC T 660 PASS FSD1 CCDS12127.1 r.? - - Del intronic D 4314605 4314609 1 40 594.593 - - 3 1 1 FSD1|CCDS12127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSD1|CCDS12127.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 7 8 9 26 28 26 28 8 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762338317 19 23314076 G GA 360 PASS ZNF730 ENST00000327867 r.? - - Ins intronic I 23314076 23314084 1 15 321.368 - - 7 1 1 ZNF730|ENST00000327867|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF730|ENST00000327867|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 2 6 4 31 17 31 17 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762341498 19 33985637 GC G 300 PASS PEPD CCDS42544.1 r.? - - Del intronic D 33985637 33985639 1 12 270.817 - - 1 1 1 PEPD|CCDS42544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PEPD|CCDS42544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 3 2 4 18 35 18 35 2 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762342098 19 35545945 GGCTCA G 300 PASS HPN CCDS32993.1 r.? - - Del intronic D 35545945 35545951 5 12 270.817 - - 1 1 1 HPN|CCDS32993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HPN|CCDS32993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 3 2 3 22 26 22 26 2 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762342157 19 35657443 CTGGG C 480 PASS FXYD5 CCDS12447.1 r.? - - Del intronic D 35657443 35657450 4 25 433.307 - - 1 1 1 FXYD5|CCDS12447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FXYD5|CCDS12447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 10 22 10 0 0 ./. 4 4 4 5 21 37 21 37 4 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762342417 19 36249576 C CT 629 PASS C19orf55 CCDS46056.1 r.? - - Ins intronic I 36249576 36249586 1 42 586.766 - - 9 1 1 C19orf55|CCDS46056.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C19orf55|CCDS46056.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 5 6 7 8 30 41 30 43 7 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762342496 19 36467406 AG A 360 PASS - - - - - Del - D 36467406 36467408 1 12 324.98 - - 1 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 1 5 8 7 46 39 46 39 8 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762346724 19 46498333 CT C 869 PASS CCDC61 CCDS46120.1 r.? - - Del upstream D 46498333 46498335 1 72 803.419 - - 1 1 1 CCDC61|CCDS46120.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CCDC61|CCDS46120.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 8 14 8 0 0 ./. 8 7 10 9 31 29 31 29 10 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762348135 19 49293216 GT G 595 PASS - - - - - Del - D 49293216 49293218 1 12 583.755 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 11 0 12 0 29 20 30 20 12 0 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762349467 19 52483102 TA T 480 PASS ZNF615 CCDS12845.1 r.? - - Del intronic D 52483102 52483104 1 24 429.092 - - 1 1 1 ZNF615|CCDS12845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF615|CCDS12845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 5 4 7 27 36 27 36 4 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762350653 19 54663971 CTAGT C 418 PASS TMC4 CCDS46174.1 r.2339_2342delACUA c.? p.? Del 3'UTR variant D 54663971 54663977 4 25 432.103 - - 1 1 1 TMC4|CCDS46174.1|r.2339_2342delACUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TMC4|CCDS46174.1|r.2339_2342delACUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 4 5 8 51 40 51 40 5 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762354026 2 5179158 C CA 420 PASS - - - - - Ins - I 5179158 5179166 1 20 372.761 - - 7 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 3 4 5 7 36 25 36 25 5 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762354615 2 7568498 GT G 300 PASS ENSG00000234603 ENST00000441133 r.? - - Del intronic D 7568498 7568500 1 12 269.268 - - 1 1 1 ENSG00000234603|ENST00000441133|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000234603|ENST00000441133|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 3 2 4 19 21 19 21 2 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762355802 2 11682049 AG A 480 PASS GREB1 CCDS42655.1 r.? - - Del intronic D 11682049 11682051 1 24 430.829 - - 1 1 1 GREB1|CCDS42655.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GREB1|CCDS42655.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 5 3 6 5 17 16 17 16 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762356339 2 13816954 ATC A 540 PASS - - - - - Del - D 13816954 13816958 2 30 483.479 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 4 8 6 18 14 18 14 8 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762356944 2 16199775 GA G 420 PASS - - - - - Del - D 16199775 16199780 1 14 374.568 - - 4 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 6 1 6 2 21 14 21 14 6 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762361978 2 36545977 ATGG A 358 PASS - - - - - Del - D 36545977 36545981 3 18 372.761 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 2 5 3 15 15 15 15 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762362082 2 36939121 GC G 540 PASS VIT CCDS33180.1 r.? - - Del intronic D 36939121 36939126 1 30 484.683 - - 4 1 1 VIT|CCDS33180.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 VIT|CCDS33180.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 4 6 4 13 15 13 15 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762363595 2 42080884 ACG A 1080 PASS - - - - - Del - D 42080884 42080888 2 99 966.356 - - 1 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 8 10 12 10 23 19 23 19 12 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762365466 2 49623298 TGTATTAG T 356 PASS - - - - - Del - D 49623298 49623306 7 45 645.642 - - 1 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 8 4 8 19 16 20 16 5 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762366138 2 52740389 AC A 660 PASS - - - - - Del - D 52740389 52740391 1 42 591.186 - - 1 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 5 9 5 17 13 17 13 9 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762368441 2 62660578 A AAGG 449 PASS - - - - - Ins - I 62660578 62660583 3 24 415.778 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 12 0 0 ./. 5 3 5 4 17 15 17 15 5 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762368686 2 63903706 C CA 780 PASS - - - - - Ins - I 63903706 63903716 1 54 692.271 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 8 6 11 22 20 22 20 6 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762369133 2 65668070 A AT 660 PASS - - - - - Ins - I 65668070 65668079 1 40 574.931 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 7 4 11 8 19 15 19 15 11 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762371054 2 74516318 CT C 840 PASS SLC4A5 CCDS1936.1 r.? - - Del intronic D 74516318 74516320 1 60 753.952 - - 1 1 1 SLC4A5|CCDS1936.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC4A5|CCDS1936.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 9 6 13 11 18 11 18 6 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762371233 2 75430431 AGGGCCCAG A 261 PASS TACR1 CCDS1958.1 r.? - - Del upstream D 75430431 75430440 8 24 484.683 - - 1 1 1 TACR1|CCDS1958.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TACR1|CCDS1958.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 20 12 20 0 0 ./. 7 2 8 3 19 9 20 9 9 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762375793 2 95598635 C CA 834 PASS - - - - - Ins - I 95598635 95598644 1 48 745.523 - - 8 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 11 10 15 18 26 18 26 10 15 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762376043 2 97086684 A AT 300 PASS - - - - - Ins - I 97086684 97086688 1 12 266.258 - - 3 1 1 - - ./. 0 0 0 0 6 21 6 21 0 0 ./. 2 3 3 5 12 19 12 19 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762377780 2 105361404 TCTTTCATA T 377 PASS - - - - - Del - D 105361404 105361413 8 50 699.496 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 9 4 9 15 21 15 21 4 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762377884 2 105831373 TGAACGTTGTTCTATCTGCTTATTG T 261 PASS - - - - - Del - D 105831373 105831399 24 30 484.683 - - 1 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 4 5 3 4 12 16 13 17 4 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762380035 2 115453090 G GA 840 PASS DPP10 CCDS46400.1 r.? - - Ins intronic I 115453090 115453097 1 63 745.523 - - 6 1 1 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 8 6 8 10 18 21 18 21 8 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762382969 2 128500866 GTAA G 958 PASS WDR33 CCDS2150.1 r.? - - Del intronic D 128500866 128500876 3 90 909.492 - - 3 1 1 WDR33|CCDS2150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR33|CCDS2150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 9 8 11 10 16 10 16 10 11 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762383690 2 131874663 CCAGT C 329 PASS PLEKHB2 CCDS46413.1 r.? - - Del intronic D 131874663 131874669 4 15 323.122 - - 1 1 1 PLEKHB2|CCDS46413.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLEKHB2|CCDS46413.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 4 2 4 3 21 17 21 17 4 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762387694 2 146230355 AT A 300 PASS - - - - - Del - D 146230355 146230363 1 12 269.268 - - 7 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 2 3 3 3 14 19 14 19 3 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762390247 2 157350968 GA G 360 PASS GPD2 CCDS2202.1 r.? - - Del intronic D 157350968 157350970 1 12 323.122 - - 1 1 1 GPD2|CCDS2202.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPD2|CCDS2202.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 1 5 2 6 10 24 10 24 2 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762391145 2 161094634 ACTGC A 718 PASS - - - - - Del - D 161094634 161094640 4 56 700.098 - - 1 1 1 - - ./. 0 0 0 0 3 8 3 8 0 0 ./. 6 7 7 10 22 24 22 24 7 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762392809 2 169188156 GA G 418 PASS - - - - - Del - D 169188156 169188160 1 25 430.829 - - 3 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 4 5 7 17 22 17 22 5 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762394544 2 175224932 AAAAT A 838 PASS CIR1 CCDS2256.1 r.? - - Del intronic D 175224932 175224943 4 60 807.805 - - 2 1 1 CIR1|CCDS2256.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CIR1|CCDS2256.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 11 4 14 14 28 14 28 4 14 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762396385 2 182478814 TTC T 480 PASS CERKL CCDS46466.1 r.? - - Del intronic D 182478814 182478818 2 24 430.227 - - 1 1 1 CERKL|CCDS46466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CERKL|CCDS46466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 3 7 4 16 12 16 12 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762396880 2 184557783 AACACTTAATATAAAAC A 261 PASS - - - - - Del - D 184557783 184557801 16 28 484.683 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 3 4 2 10 10 12 11 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762397155 2 185875403 GTTAA G 689 PASS - - - - - Del - D 185875403 185875411 4 48 635.407 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 5 9 6 17 15 17 15 9 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762402963 2 207334087 TTATAATCCATGTCTAC T 493 PASS ADAM23 CCDS2369.1 r.? - - Del intronic D 207334087 207334105 16 84 915.513 - - 1 1 1 ADAM23|CCDS2369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM23|CCDS2369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 11 6 9 31 21 31 23 6 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762404046 2 211226141 TCC T 420 PASS - - - - - Del - D 211226141 211226145 2 20 372.761 - - 3 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 4 3 8 20 26 20 26 3 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762406153 2 218003539 C CT 540 PASS - - - - - Ins - I 218003539 218003542 1 30 479.265 - - 2 1 1 - - ./. 0 0 0 0 12 19 13 20 0 0 ./. 4 5 13 6 27 14 27 14 13 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762406308 2 218548371 CTG C 360 PASS - - - - - Del - D 218548371 218548388 2 12 323.122 - - 8 1 - - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 5 1 5 32 33 32 33 1 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762406609 2 219513553 TAC T 509 PASS ZNF142 CCDS42817.1 r.1518_1519delGU c.1076_1077delGT p.R359fs*11 Del frameshift D 219513553 219513556 2 30 484.683 - - 1 1 1 ZNF142|CCDS42817.1|r.1518_1519delGU|c.1076_1077delGT|p.R359fs*11|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ZNF142|CCDS42817.1|r.1518_1519delGU|c.1076_1077delGT|p.R359fs*11|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 15 9 15 0 0 ./. 5 4 7 6 39 28 39 28 7 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762406878 2 220451309 TAATGAGGG T 348 PASS - - - - - Del - D 220451309 220451318 8 49 645.04 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 6 6 7 21 36 21 36 6 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762407070 2 221032909 TG T 689 PASS - - - - - Del - D 221032909 221032912 1 45 644.438 - - 2 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 8 4 12 25 32 25 32 4 12 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762407129 2 221207852 CT C 420 PASS - - - - - Del - D 221207852 221207857 1 14 376.976 - - 4 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 1 6 1 8 18 30 18 30 1 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762409417 2 228527080 TG T 300 PASS - - - - - Del - D 228527080 228527089 1 10 268.666 - - 8 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 1 4 3 21 15 21 15 4 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762410091 2 230620232 GC G 420 PASS - - - - - Del - D 230620232 230620236 1 20 376.976 - - 3 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 3 8 5 22 23 22 23 8 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762410765 2 232621075 CAT C 360 PASS PDE6D CCDS33398.1 r.? - - Del intronic D 232621075 232621080 2 16 323.122 - - 2 1 1 PDE6D|CCDS33398.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE6D|CCDS33398.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 3 6 5 24 23 24 23 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762411550 2 235110248 AGAAAGCCCAGTAGGACCCAAGGAAGAG A 348 PASS - - - - - Del - D 235110248 235110280 27 45 636.611 - - 1 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 8 2 4 34 24 36 28 4 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762412219 2 237089479 CAT C 360 PASS ENSG00000233611 ENST00000415226 r.? - - Del intronic D 237089479 237089484 2 16 323.122 - - 2 1 1 ENSG00000233611|ENST00000415226|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000233611|ENST00000415226|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 3 5 6 19 25 19 25 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762412432 2 237943052 GACGTATGTGGGAATTCCAA G 261 PASS - - - - - Del - D 237943052 237943074 19 30 484.683 - - 1 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 4 4 4 23 28 24 28 5 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762412845 2 239358988 TCTTC T 360 PASS ASB1 CCDS33416.1 r.5092_5095delCUUC c.? p.? Del 3'UTR variant D 239358988 239358996 4 15 323.122 - - 1 1 1 ASB1|CCDS33416.1|r.5092_5095delCUUC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ASB1|CCDS33416.1|r.5092_5095delCUUC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 4 4 5 29 26 29 26 4 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762412980 2 239795810 AG A 300 PASS ENSG00000233608 CCDS46558.1 r.1094delG c.? p.? Del 3'UTR variant D 239795810 239795812 1 12 268.064 - - 1 1 1 ENSG00000233608|CCDS46558.1|r.1094delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ENSG00000233608|CCDS46558.1|r.1094delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 3 3 7 26 28 26 28 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762414939 20 3404659 A AG 540 PASS - - - - - Ins - I 3404659 3404660 1 30 473.634 - - 0 1 - - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 4 7 10 20 26 20 27 7 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762416068 20 6026122 AACAC A 718 PASS LRRN4 CCDS13097.1 r.? - - Del intronic D 6026122 6026134 4 56 702.267 - - 5 1 1 LRRN4|CCDS13097.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRN4|CCDS13097.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 6 7 10 13 41 33 41 33 10 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762416175 20 6320982 C CT 480 PASS - - - - - Ins - I 6320982 6320989 1 16 429.571 - - 6 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 7 4 13 24 41 24 41 4 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762416273 20 6740743 A ACCTTC 290 PASS - - - - - Ins - I 6740743 6740750 5 32 512.881 - - 1 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 7 3 8 3 37 21 39 21 9 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762417256 20 9875394 TA T 840 PASS - - - - - Del - D 9875394 9875402 1 63 760.178 - - 7 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 8 6 9 8 36 27 36 27 9 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762417554 20 10691832 TGCCTG T 360 PASS - - - - - Del - D 10691832 10691838 5 15 325.791 - - 1 1 - - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 4 4 4 31 31 31 31 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762417594 20 10851872 GTC G 300 PASS - - - - - Del - D 10851872 10851882 2 6 271.492 - - 4 1 - - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 0 5 2 5 30 36 30 36 2 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762417730 20 11327144 A ATGC 360 PASS - - - - - Ins - I 11327144 11327148 3 16 313.749 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 3 4 23 37 23 38 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762419794 20 17706160 CAT C 660 PASS BANF2 CCDS13129.1 r.? - - Del intronic D 17706160 17706163 2 42 587.65 - - 1 1 1 BANF2|CCDS13129.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BANF2|CCDS13129.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 5 6 7 7 38 33 38 33 7 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762421811 20 25097641 TGGGATCTG T 261 PASS - - - - - Del - D 25097641 25097651 8 30 484.471 - - 1 1 1 - - ./. 0 0 0 0 8 20 8 20 0 0 ./. 4 5 5 6 42 42 42 43 5 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762425189 20 33433167 AGG A 660 PASS GGT7 CCDS13242.2 r.1996_1997delCC c.1951_1952delCC p.P651fs*98 Del frameshift D 33433167 33433171 2 36 594.272 - - 3 1 1 GGT7|CCDS13242.2|r.1996_1997delCC|c.1951_1952delCC|p.P651fs*98|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 GGT7|CCDS13242.2|r.1996_1997delCC|c.1951_1952delCC|p.P651fs*98|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 8 9 8 0 0 ./. 8 3 9 4 40 21 40 21 9 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762425632 20 34640442 CT C 480 PASS - - - - - Del - D 34640442 34640444 1 21 434.387 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 6 2 10 18 39 18 39 2 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762426113 20 36075142 C CTTCCTTCCTTCCTTCTTCCCTCCTTTCT 300 PASS - - - - - Ins - I 36075142 36075158 28 10 187.204 - - 0 1 - - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 1 0 0 40 43 40 44 4 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762426735 20 38364285 GT G 360 PASS - - - - - Del - D 38364285 38364290 1 15 325.791 - - 4 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 4 3 5 28 42 28 42 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762427319 20 40820163 CAA C 629 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 40820163 40820168 2 42 597.283 - - 4 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 6 6 7 28 29 28 29 6 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762428338 20 44088339 C CT 360 PASS - - - - - Ins - I 44088339 44088342 1 16 322.178 - - 2 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 3 3 5 6 31 38 31 38 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762431334 20 51812325 CAGGTAAA C 261 PASS TSHZ2 CCDS33490.1 r.? - - Del intronic D 51812325 51812333 7 24 488.686 - - 1 1 1 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 7 2 8 2 38 41 39 41 9 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762433552 20 58042537 AG A 360 PASS - - - - - Del - D 58042537 58042541 1 15 325.188 - - 3 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 4 4 9 31 30 31 30 4 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762435147 21 9450612 AT A 425 PASS - - - - - Del - D 9450612 9450618 1 96 1088.78 - - 5 1 1 - - ./. 0 0 0 0 50 71 50 71 0 0 ./. 5 15 4 10 59 368 59 368 5 15 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762438225 21 11119855 TCTC T 774 PASS - - - - - Del - D 11119855 11119862 3 80 869.823 - - 2 1 1 - - ./. 0 0 0 0 106 87 106 87 0 0 ./. 9 7 12 10 249 197 249 197 12 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762442034 21 23939016 GATCCATCCA G 406 PASS - - - - - Del - D 23939016 23939026 9 60 762.148 - - 1 1 1 - - ./. 0 0 0 0 14 5 14 5 0 0 ./. 9 5 9 5 17 9 17 9 9 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762443841 21 29937750 G GA 960 PASS - - - - - Ins - I 29937750 29937758 1 80 861.394 - - 7 1 1 - - ./. 0 0 0 0 24 16 24 16 0 0 ./. 7 9 10 14 22 27 22 28 10 14 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762446735 21 40472311 T TG 780 PASS - - - - - Ins - I 40472311 40472313 1 44 699.883 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 11 0 0 ./. 3 10 6 11 15 27 15 28 6 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762447812 21 43857579 CT C 900 PASS UBASH3A CCDS13687.1 r.? - - Del intronic D 43857579 43857585 1 72 814.781 - - 5 1 1 UBASH3A|CCDS13687.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBASH3A|CCDS13687.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 8 11 9 22 22 22 22 11 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762450120 22 19007427 TGCTGGAGTGGCAGCTG T 783 PASS - - - - - Del - D 19007427 19007445 16 198 1475.24 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 10 17 0 0 17 28 17 31 10 17 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762451690 22 25070351 G GT 511 PASS - - - - - Ins - I 25070351 25070359 1 32 540.364 - - 7 1 1 - - ./. 0 0 0 0 14 17 15 17 0 0 ./. 3 7 5 8 17 16 17 16 5 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762456765 22 43655916 AG A 660 PASS SCUBE1 CCDS14048.1 r.? - - Del intronic D 43655916 43655920 1 40 596.809 - - 3 1 1 SCUBE1|CCDS14048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCUBE1|CCDS14048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 7 8 9 20 17 20 17 8 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762459820 3 2757426 TC T 480 PASS CNTN4 CCDS43041.1 r.? - - Del intronic D 2757426 2757429 1 24 430.774 - - 2 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 10 22 10 0 0 ./. 5 3 6 3 31 33 31 33 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762460026 3 3234125 GA G 689 PASS - - - - - Del - D 3234125 3234127 1 45 646.16 - - 1 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 8 6 10 46 36 46 36 6 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762460432 3 4514162 GA G 1080 PASS - - - - - Del - D 4514162 4514172 1 84 969.241 - - 9 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 13 5 18 17 45 39 45 39 18 17 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762460523 3 4784841 CT C 480 PASS ITPR1 CCDS46740.1 r.? - - Del intronic D 4784841 4784845 1 21 430.774 - - 3 1 1 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 2 6 5 38 33 38 33 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762460907 3 5780544 C CCAAGGTG 667 PASS - - - - - Ins - I 5780544 5780552 7 144 1141.54 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 8 15 8 14 29 34 29 35 8 15 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762461457 3 7424591 CACAT C 300 PASS GRM7 CCDS43042.1 r.? - - Del intronic D 7424591 7424598 4 12 269.234 - - 1 1 1 GRM7|CCDS43042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM7|CCDS43042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 3 2 29 25 29 25 3 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762463334 3 12909009 CT C 600 PASS CAND2 ENST00000454887 r.? - - Del intronic D 12909009 12909011 1 32 537.263 - - 1 1 1 CAND2|ENST00000454887|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAND2|ENST00000454887|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 7 3 9 36 42 36 42 3 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762464365 3 16393590 T TA 720 PASS RFTN1 CCDS33712.1 r.? - - Ins intronic I 16393590 16393591 1 45 638.936 - - 0 1 1 RFTN1|CCDS33712.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RFTN1|CCDS33712.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 8 4 9 8 35 55 35 56 9 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762464835 3 18377596 ATTTC A 300 PASS - - - - - Del - D 18377596 18377603 4 12 269.234 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 3 4 11 21 11 21 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762466040 3 22322701 G GTT 300 PASS - - - - - Ins - I 22322701 22322705 2 6 263.213 - - 3 1 1 - - ./. 0 0 0 0 14 13 14 14 0 0 ./. 5 0 6 4 31 27 32 28 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762467832 3 28864874 T TCC 420 PASS - - - - - Ins - I 28864874 28864877 2 18 368.498 - - 2 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 2 6 3 29 23 29 23 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762468741 3 32217190 CTATT C 360 PASS - - - - - Del - D 32217190 32217199 4 7 323.08 - - 2 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 0 8 2 38 24 38 24 8 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762469160 3 33307265 CT C 480 PASS - - - - - Del - D 33307265 33307270 1 21 430.774 - - 4 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 2 9 3 33 20 33 20 9 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762471309 3 41201124 TA T 480 PASS - - - - - Del - D 41201124 41201126 1 24 430.774 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 3 6 5 28 33 28 33 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762473209 3 47437894 ATC A 542 PASS PTPN23 CCDS2754.1 r.? - - Del intronic D 47437894 47437900 2 35 538.467 - - 2 1 1 PTPN23|CCDS2754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN23|CCDS2754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 6 6 7 36 22 36 22 6 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762476337 3 57185520 GA G 480 PASS IL17RD CCDS2880.2 r.? - - Del intronic D 57185520 57185524 1 24 430.774 - - 3 1 1 IL17RD|CCDS2880.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL17RD|CCDS2880.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 5 4 6 34 27 34 27 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762478594 3 64007535 AAG A 480 PASS PSMD6 CCDS2901.1 r.? - - Del intronic D 64007535 64007539 2 24 421.743 - - 1 1 1 PSMD6|CCDS2901.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSMD6|CCDS2901.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 5 7 6 36 23 36 23 7 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762479277 3 66293155 TA T 1020 PASS SLC25A26 ENST00000354883 r.? - - Del intronic D 66293155 66293162 1 78 915.394 - - 6 1 1 SLC25A26|ENST00000354883|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC25A26|ENST00000354883|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 16 4 16 0 0 ./. 5 12 5 15 32 43 32 43 5 15 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762479425 3 66917542 CAGA C 478 PASS - - - - - Del - D 66917542 66917548 3 28 484.62 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 3 7 3 27 27 27 27 7 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762479932 3 68708866 AT A 600 PASS - - - - - Del - D 68708866 68708870 1 35 538.467 - - 3 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 4 6 7 7 28 31 28 31 7 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762485848 3 85551060 AAC A 420 PASS CADM2 ENST00000383699 r.? - - Del intronic D 85551060 85551066 2 18 374.519 - - 2 1 1 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 5 4 5 38 15 38 15 4 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762487010 3 89283988 T TTTCCTTCCTTCCTCCCTTCTTTCCTTCTC 397 PASS EPHA3 CCDS2922.1 r.? - - Ins intronic I 89283988 89284002 29 14 253.505 - - 0 1 1 EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 19 6 19 0 0 ./. 1 6 0 0 24 47 24 47 1 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762487055 3 89740815 C CT 300 PASS - - - - - Ins - I 89740815 89740822 1 10 266.223 - - 6 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 1 4 4 5 28 21 28 21 4 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762488168 3 96897874 CT C 780 PASS EPHA6 CCDS46876.1 r.? - - Del intronic D 96897874 96897876 1 56 700.007 - - 1 1 1 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 7 6 7 34 39 34 39 6 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762489828 3 102417882 AT A 600 PASS - - - - - Del - D 102417882 102417886 1 32 535.457 - - 3 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 7 3 8 4 34 18 34 18 8 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762491363 3 107077881 CCTGAA C 290 PASS - - - - - Del - D 107077881 107077889 5 35 537.865 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 6 4 6 4 28 21 28 21 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762492694 3 111454544 GA G 360 PASS PHLDB2 CCDS46885.1 r.? - - Del intronic D 111454544 111454548 1 15 323.08 - - 3 1 1 PHLDB2|CCDS46885.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PHLDB2|CCDS46885.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 2 4 5 8 32 40 32 40 5 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762493404 3 113444326 C CA 300 PASS NAA50 CCDS2975.1 r.? - - Ins intronic I 113444326 113444336 1 12 266.223 - - 9 1 - NAA50|CCDS2975.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NAA50|CCDS2975.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 9 17 10 0 0 ./. 3 2 3 2 39 29 39 29 3 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762494167 3 116046296 AT A 420 PASS LSAMP CCDS2982.1 r.? - - Del intronic D 116046296 116046301 1 18 376.927 - - 4 1 1 LSAMP|CCDS2982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LSAMP|CCDS2982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 5 3 5 25 26 25 26 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762494219 3 116182541 TGTTGA T 358 PASS LSAMP ENST00000474851 r.? - - Del intronic D 116182541 116182547 5 20 376.927 - - 1 1 1 LSAMP|ENST00000474851|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LSAMP|ENST00000474851|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 4 4 6 24 44 24 44 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762496676 3 124408419 TTTCTAAGGA T 319 PASS KALRN CCDS3028.1 r.? - - Del intronic D 124408419 124408429 9 42 590.508 - - 1 1 1 KALRN|CCDS3028.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KALRN|CCDS3028.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 6 5 6 6 23 27 23 27 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762497047 3 125172331 TTC T 300 PASS SNX4 CCDS3032.1 r.? - - Del intronic D 125172331 125172335 2 6 269.234 - - 1 1 1 SNX4|CCDS3032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX4|CCDS3032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 0 5 0 9 1 23 1 23 0 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762498780 3 131190598 AAAAT A 387 PASS MRPL3 CCDS3071.1 r.? - - Del intronic D 131190598 131190604 4 24 430.774 - - 1 1 1 MRPL3|CCDS3071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRPL3|CCDS3071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 5 3 7 6 26 32 26 33 7 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762499251 3 132827839 T TA 560 PASS TMEM108 CCDS33858.1 r.? - - Ins intronic I 132827839 132827846 1 40 584.487 - - 6 1 1 TMEM108|CCDS33858.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TMEM108|CCDS33858.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 7 5 7 20 19 20 19 5 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762499591 3 133974658 T TA 720 PASS - - - - - Ins - I 133974658 133974660 1 45 638.936 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 8 5 10 23 24 23 24 5 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762504969 3 151761367 GA G 420 PASS - - - - - Del - D 151761367 151761371 1 18 376.927 - - 3 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 2 5 2 31 26 31 26 5 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762505628 3 153803689 TG T 1343 PASS - - - - - Del - D 153803689 153803691 1 196 1400.01 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 13 13 14 13 35 30 35 30 14 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762505754 3 154107320 CA C 540 PASS GPR149 CCDS43162.1 r.? - - Del intronic D 154107320 154107322 1 30 484.62 - - 1 1 1 GPR149|CCDS43162.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR149|CCDS43162.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 4 7 6 31 30 31 30 7 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762506658 3 157743935 T TCTTG 327 PASS - - - - - Ins - I 157743935 157743943 4 18 358.263 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 5 3 5 31 27 31 27 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762507069 3 158901698 AT A 269 PASS IQCJ CCDS46947.1 r.? - - Del intronic D 158901698 158901702 1 10 266.825 - - 3 1 1 IQCJ|CCDS46947.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IQCJ|CCDS46947.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 1 4 2 4 24 30 24 30 2 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762507385 3 160141474 T TC 509 PASS SMC4 CCDS3189.1 r.? - - Ins intronic I 160141474 160141481 1 30 479.202 - - 6 1 1 SMC4|CCDS3189.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMC4|CCDS3189.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 13 0 0 ./. 5 4 7 6 23 20 23 21 7 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762511677 3 173908792 CGT C 360 PASS NLGN1 CCDS3222.1 r.? - - Del intronic D 173908792 173908808 2 15 321.876 - - 7 1 - NLGN1|CCDS3222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NLGN1|CCDS3222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 4 2 4 34 33 34 33 2 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762515240 3 185031668 C CT 600 PASS MAP3K13 CCDS3270.1 r.? - - Ins intronic I 185031668 185031671 1 32 532.446 - - 2 1 1 MAP3K13|CCDS3270.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MAP3K13|CCDS3270.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 7 3 9 4 49 30 49 30 9 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762515300 3 185127131 GGGCTACAGA G 290 PASS MAP3K13 CCDS3270.1 r.? - - Del intronic D 185127131 185127142 9 32 538.467 - - 1 1 1 MAP3K13|CCDS3270.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAP3K13|CCDS3270.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 7 3 8 4 34 19 34 19 8 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762517413 3 191216164 AT A 300 PASS - - - - - Del - D 191216164 191216168 1 10 269.234 - - 3 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 1 6 3 31 20 31 20 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762517992 3 193268527 GT G 358 PASS ATP13A4 CCDS3304.2 r.? - - Del intronic D 193268527 193268535 1 18 376.927 - - 7 1 1 ATP13A4|CCDS3304.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP13A4|CCDS3304.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 5 4 7 39 20 39 20 4 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762520638 4 2161161 GA G 660 PASS POLN CCDS3360.1 r.? - - Del intronic D 2161161 2161165 1 42 592.713 - - 3 1 1 POLN|CCDS3360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POLN|CCDS3360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 5 10 6 35 21 35 21 10 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762521142 4 3599842 CT C 660 PASS - - - - - Del - D 3599842 3599844 1 36 591.509 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 8 3 9 59 71 59 71 3 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762521177 4 3611083 CCACACGCCACAGG C 261 PASS - - - - - Del - D 3611083 3611101 13 30 484.947 - - 1 1 - - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 5 0 0 67 48 67 48 4 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762525794 4 18963870 GA G 480 PASS - - - - - Del - D 18963870 18963876 1 24 431.064 - - 5 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 5 3 7 16 21 16 21 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762526181 4 20544484 TGC T 300 PASS SLIT2 ENST00000504154 r.? - - Del intronic D 20544484 20544489 2 10 267.609 - - 2 1 - SLIT2|ENST00000504154|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT2|ENST00000504154|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 7 11 0 0 ./. 4 1 8 3 13 17 13 17 8 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762527411 4 24870361 C CT 600 PASS CCDC149 ENST00000504487 r.? - - Ins intronic I 24870361 24870368 1 35 528.595 - - 6 1 1 CCDC149|ENST00000504487|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC149|ENST00000504487|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 6 4 10 9 40 30 41 31 10 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762527838 4 25990379 AT A 600 PASS ENSG00000223895 ENST00000442025 r.? - - Del intronic D 25990379 25990381 1 32 535.218 - - 1 1 1 ENSG00000223895|ENST00000442025|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000223895|ENST00000442025|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 7 5 11 21 26 21 26 5 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762528977 4 29799612 A AT 300 PASS - - - - - Ins - I 29799612 29799618 1 12 266.405 - - 5 1 1 - - ./. 0 0 0 0 25 15 25 15 0 0 ./. 3 2 4 4 23 27 23 28 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762529031 4 30006445 GA G 300 PASS ENSG00000237496 ENST00000424014 r.? - - Del upstream D 30006445 30006451 1 10 269.415 - - 5 1 1 ENSG00000237496|ENST00000424014|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000237496|ENST00000424014|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 1 5 4 22 25 22 25 5 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762530359 4 35474271 AACAT A 420 PASS - - - - - Del - D 35474271 35474277 4 20 377.181 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 3 6 6 23 17 23 17 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762531103 4 37910499 T TG 600 PASS TBC1D1 CCDS33972.1 r.? - - Ins intronic I 37910499 37910500 1 36 532.81 - - 0 1 1 TBC1D1|CCDS33972.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TBC1D1|CCDS33972.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 11 8 0 0 ./. 5 5 6 5 18 32 19 34 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762531261 4 38298193 AC A 420 PASS - - - - - Del - D 38298193 38298197 1 20 377.181 - - 3 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 3 8 6 21 28 21 28 8 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762534430 4 48004853 GCAC G 600 PASS CNGA1 CCDS43226.1 r.? - - Del intronic D 48004853 48004858 3 32 538.83 - - 1 1 1 CNGA1|CCDS43226.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CNGA1|CCDS43226.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 7 3 8 17 28 17 28 3 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762534504 4 48221650 TTC T 294 PASS TEC CCDS3481.1 r.? - - Del intronic D 48221650 48221666 2 12 265.201 - - 7 1 1 TEC|CCDS3481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TEC|CCDS3481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 3 2 31 23 31 23 3 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762535833 4 52758300 AGCCACCTC A 377 PASS DCUN1D4 CCDS33982.1 r.? - - Del intronic D 52758300 52758309 8 56 700.479 - - 1 1 1 DCUN1D4|CCDS33982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCUN1D4|CCDS33982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 7 6 9 7 19 17 19 17 9 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762536295 4 54674203 AT A 360 PASS AC110792.1 ENST00000511394 r.? - - Del intronic D 54674203 54674210 1 12 323.298 - - 6 1 1 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 1 5 3 6 18 28 18 28 3 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762537403 4 57936043 G GT 449 PASS IGFBP7 CCDS3512.1 r.? - - Ins intronic I 57936043 57936047 1 21 426.248 - - 3 1 1 IGFBP7|CCDS3512.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IGFBP7|CCDS3512.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 6 2 8 3 23 23 23 23 8 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762538507 4 61377737 GA G 600 PASS - - - - - Del - D 61377737 61377739 1 35 538.83 - - 1 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 4 11 5 24 26 24 26 11 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762540280 4 67166185 TAA T 360 PASS - - - - - Del - D 67166185 67166189 2 15 323.298 - - 3 1 1 - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 2 4 2 5 9 16 9 16 2 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762540339 4 67459196 TA T 360 PASS - - - - - Del - D 67459196 67459199 1 16 323.298 - - 2 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 3 4 4 19 12 19 12 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762540509 4 68064640 TG T 360 PASS - - - - - Del - D 68064640 68064642 1 12 323.298 - - 1 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 5 1 6 1 19 18 19 18 6 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762542018 4 72767378 TTTCC T 389 PASS - - - - - Del - D 72767378 72767385 4 20 377.181 - - 1 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 4 3 5 17 21 17 21 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762542321 4 73826957 CT C 480 PASS - - - - - Del - D 73826957 73826959 1 21 429.86 - - 1 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 6 4 10 21 23 21 23 4 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762543419 4 77882839 C CA 900 PASS SEPT11 CCDS34018.1 r.? - - Ins intronic I 77882839 77882843 1 72 795 - - 3 1 1 SEPT11|CCDS34018.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SEPT11|CCDS34018.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 7 8 13 11 34 29 34 29 13 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762544891 4 83225302 G GA 269 PASS - - - - - Ins - I 83225302 83225312 1 6 265.803 - - 9 1 1 - - ./. 0 0 0 0 6 19 6 19 0 0 ./. 0 5 0 6 11 22 11 23 0 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762545425 4 84476204 GC G 313 PASS AGPAT9 CCDS3606.1 r.? - - Del intronic D 84476204 84476207 1 20 375.375 - - 2 1 1 AGPAT9|CCDS3606.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGPAT9|CCDS3606.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 3 7 16 24 16 24 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762545605 4 85186727 AT A 540 PASS - - - - - Del - D 85186727 85186734 1 24 483.743 - - 6 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 7 3 11 14 30 14 30 3 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762545808 4 86182882 GCTA G 420 PASS - - - - - Del - D 86182882 86182889 3 18 376.579 - - 2 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 5 2 6 17 31 17 31 2 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762546092 4 87516684 T TA 420 PASS PTPN13 CCDS47093.1 r.? - - Ins intronic I 87516684 87516687 1 20 372.967 - - 2 1 1 PTPN13|CCDS47093.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTPN13|CCDS47093.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 4 6 5 22 22 22 22 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762546188 4 87827616 TA T 629 PASS C4orf36 CCDS3615.1 r.? - - Del intronic D 87827616 87827618 1 42 592.713 - - 1 1 1 C4orf36|CCDS3615.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C4orf36|CCDS3615.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 6 5 8 6 20 19 20 19 8 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762547949 4 94667796 AAGC A 358 PASS GRID2 CCDS3637.1 r.? - - Del intronic D 94667796 94667801 3 14 377.181 - - 1 1 1 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 1 6 3 8 20 32 20 32 3 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762548436 4 96016477 CTG C 600 PASS BMPR1B CCDS3642.1 r.? - - Del intronic D 96016477 96016482 2 11 538.83 - - 2 1 1 BMPR1B|CCDS3642.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BMPR1B|CCDS3642.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 10 0 10 0 25 4 25 4 10 0 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762554603 4 119486193 C CCAGT 363 PASS - - - - - Ins - I 119486193 119486199 4 18 458.457 - - 1 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 1 8 2 8 19 39 19 39 2 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762554768 4 120032600 CT C 660 PASS - - - - - Del - D 120032600 120032604 1 42 592.713 - - 3 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 6 5 9 6 29 16 29 16 9 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762555141 4 121058507 GC G 660 PASS - - - - - Del - D 121058507 121058509 1 30 577.06 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 9 2 10 5 24 45 24 45 10 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762557954 4 130784194 GA G 360 PASS - - - - - Del - D 130784194 130784199 1 12 323.298 - - 4 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 5 1 7 2 30 29 30 29 7 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762558327 4 132145775 TA T 420 PASS - - - - - Del - D 132145775 132145777 1 20 377.181 - - 1 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 3 4 4 7 19 20 19 20 4 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762558330 4 132157418 GTGCTGTCC G 377 PASS - - - - - Del - D 132157418 132157428 8 36 700.479 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 11 2 12 4 29 18 29 18 12 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762558622 4 132896819 GGA G 268 PASS - - - - - Del - D 132896819 132896836 2 10 269.415 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 1 4 1 28 30 28 30 4 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762560885 4 140927830 TCATTCAA T 261 PASS MAML3 CCDS43266.1 r.? - - Del intronic D 140927830 140927839 7 30 484.345 - - 1 1 1 MAML3|CCDS43266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAML3|CCDS43266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 14 26 14 0 0 ./. 5 4 5 5 28 15 28 15 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762563725 4 151657135 AGCAAAGCTTTCAGGG A 290 PASS LRBA CCDS3773.1 r.? - - Del intronic D 151657135 151657151 15 32 534.014 - - 1 1 1 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 7 3 7 18 25 18 25 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762564682 4 154825073 A AGT 300 PASS - - - - - Ins - I 154825073 154825089 2 10 263.395 - - 7 1 - - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 1 4 1 4 32 29 32 30 1 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762564837 4 155304012 AGGC A 449 PASS DCHS2 CCDS3785.1 r.? - - Del intronic D 155304012 155304016 3 25 431.064 - - 1 1 1 DCHS2|CCDS3785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCHS2|CCDS3785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 4 8 4 24 20 24 20 8 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762570510 4 173932314 GA G 629 PASS GALNTL6 CCDS34104.1 r.? - - Del intronic D 173932314 173932318 1 42 592.111 - - 3 1 1 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 5 6 5 7 20 23 20 23 5 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762570982 4 175444207 C CT 778 PASS HPGD CCDS3821.1 r.? - - Ins upstream I 175444207 175444209 1 15 745.332 - - 1 1 1 HPGD|CCDS3821.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 HPGD|ENST00000510901|r.9_10insa|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 18 10 18 10 0 0 ./. 14 0 17 2 31 11 31 11 17 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762573019 4 181748213 A AT 600 PASS - - - - - Ins - I 181748213 181748222 1 27 530.402 - - 8 1 1 - - ./. 0 0 0 0 13 20 13 21 0 0 ./. 8 2 9 2 24 16 25 16 9 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762573080 4 181897858 C CA 540 PASS - - - - - Ins - I 181897858 181897865 1 24 479.529 - - 6 1 1 - - ./. 0 0 0 0 12 17 12 18 0 0 ./. 7 2 9 3 33 19 33 19 9 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762573217 4 182273164 TC T 360 PASS - - - - - Del - D 182273164 182273166 1 7 319.686 - - 1 1 - - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 6 0 10 0 19 29 19 29 10 0 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762573812 4 184045158 GA G 300 PASS WWC2 CCDS34109.2 r.? - - Del intronic D 184045158 184045161 1 12 269.415 - - 2 1 1 WWC2|CCDS34109.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWC2|CCDS34109.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 4 2 32 9 32 9 4 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762575200 4 187382577 GA G 540 PASS MTNR1A ENST00000509111 r.? - - Del intronic D 187382577 187382582 1 24 484.947 - - 4 1 1 MTNR1A|ENST00000509111|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTNR1A|ENST00000509111|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 7 4 9 15 21 15 21 4 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762575241 4 187507964 GT G 360 PASS FAT1 CCDS47177.1 r.? - - Del downstream D 187507964 187507967 1 15 323.298 - - 2 1 1 FAT1|CCDS47177.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FAT1|CCDS47177.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 11 17 11 0 0 ./. 2 4 3 8 11 20 11 20 3 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762575630 4 188725915 GCAGT GC 300 PASS - - - - - Complex - DI 188725916 188725919 4 12 0 - - 0 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 2 0 0 23 21 23 21 3 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762578526 5 2705379 AGTGT A 298 PASS - - - - - Del - D 2705379 2705385 4 15 323.429 - - 2 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 4 4 6 39 44 39 44 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762578613 5 2962393 CA C 420 PASS - - - - - Del - D 2962393 2962399 1 18 376.732 - - 5 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 2 6 3 28 23 28 23 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762580711 5 9150564 CTCTA C 509 PASS SEMA5A CCDS3875.1 r.? - - Del intronic D 9150564 9150574 4 10 484.542 - - 2 1 1 SEMA5A|CCDS3875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEMA5A|CCDS3875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 0 9 2 11 28 39 28 39 2 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762580888 5 9814878 G GA 420 PASS - - - - - Ins - I 9814878 9814888 1 20 373.12 - - 9 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 4 3 5 24 19 24 19 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762583492 5 17261920 TCTTGCCAAAA T 696 PASS BASP1 CCDS3888.1 r.? - - Del intronic D 17261920 17261931 10 169 1293.12 - - 1 1 1 BASP1|CCDS3888.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BASP1|CCDS3888.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 12 12 12 13 29 31 29 32 12 14 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762585022 5 21671364 AAC A 329 PASS - - - - - Del - D 21671364 21671368 2 16 322.225 - - 1 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 3 3 4 4 26 16 26 16 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762587210 5 28768971 AT A 480 PASS - - - - - Del - D 28768971 28768973 1 24 431.239 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 3 5 4 22 15 22 15 5 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762587477 5 29417250 AT A 480 PASS - - - - - Del - D 29417250 29417258 1 21 430.035 - - 7 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 6 2 8 3 30 18 30 18 8 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762590973 5 39387512 C CT 960 PASS DAB2 CCDS34149.1 r.? - - Ins intronic I 39387512 39387514 1 65 852.846 - - 1 1 1 DAB2|CCDS34149.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DAB2|CCDS34149.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 12 14 0 0 ./. 4 12 5 16 18 41 19 41 5 16 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762592322 5 43670766 TG T 523 PASS NNT CCDS3949.1 r.? - - Del intronic D 43670766 43670768 1 63 754.669 - - 1 1 1 NNT|CCDS3949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NNT|CCDS3949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 6 8 9 12 31 34 31 34 9 12 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762592403 5 44144741 GAGA G 385 PASS - - - - - Del - D 44144741 44144748 3 30 485.144 - - 2 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 4 6 5 43 32 43 32 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762592613 5 45034424 G GA 960 PASS - - - - - Ins - I 45034424 45034427 1 80 852.846 - - 2 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 9 7 11 7 25 34 25 34 11 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762593322 5 51262031 G GA 540 PASS - - - - - Ins - I 51262031 51262035 1 30 479.726 - - 3 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 4 5 5 21 25 21 25 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762594996 5 55710683 AG A 600 PASS - - - - - Del - D 55710683 55710689 1 35 539.049 - - 5 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 4 9 7 30 28 30 28 9 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762598198 5 66419197 TTTAACACAC T 261 PASS MAST4 CCDS47225.1 r.? - - Del intronic D 66419197 66419209 9 28 485.144 - - 1 1 1 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 6 3 7 19 37 19 37 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762598517 5 67652419 A ACTCT 927 PASS - - - - - Ins - I 67652419 67652426 4 90 875.443 - - 3 1 1 - - ./. 0 0 0 0 10 13 10 14 0 0 ./. 9 8 10 9 24 31 24 31 10 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762600444 5 75226996 TC T 660 PASS - - - - - Del - D 75226996 75226999 1 42 592.954 - - 2 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 6 5 8 7 46 36 46 36 8 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762602362 5 80301365 AT A 277 PASS RASGRF2 CCDS4052.1 r.? - - Del intronic D 80301365 80301368 1 10 267.718 - - 2 1 1 RASGRF2|CCDS4052.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASGRF2|CCDS4052.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 1 4 2 7 29 29 29 29 2 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762602631 5 81462773 A AT 360 PASS ATG10 CCDS4057.1 r.? - - Ins intronic I 81462773 81462781 1 15 319.817 - - 7 1 1 ATG10|CCDS4057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATG10|CCDS4057.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 17 17 18 0 0 ./. 4 2 6 4 24 29 25 29 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762602986 5 82498635 TTA T 480 PASS XRCC4 CCDS4058.1 r.? - - Del intronic D 82498635 82498643 2 24 431.239 - - 3 1 1 XRCC4|CCDS4058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XRCC4|CCDS4058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 5 5 5 31 22 31 22 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762606146 5 94874649 GTTTC G 567 PASS TTC37 CCDS4072.1 r.? - - Del intronic D 94874649 94874657 4 30 592.954 - - 1 1 1 TTC37|CCDS4072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC37|CCDS4072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 9 2 9 3 33 11 33 11 9 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762606298 5 95320222 CAG C 420 PASS - - - - - Del - D 95320222 95320225 2 20 377.334 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 3 8 3 28 26 28 26 8 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762608495 5 103094297 TA T 360 PASS - - - - - Del - D 103094297 103094306 1 15 323.429 - - 8 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 2 5 3 21 19 21 19 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762608761 5 104006407 G GC 480 PASS ENSG00000232402 ENST00000438939 r.? - - Ins intronic I 104006407 104006409 1 24 426.423 - - 1 1 1 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 14 12 0 0 ./. 3 5 3 6 17 23 20 23 3 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762609634 5 107498813 AT A 417 PASS FBXL17 ENST00000359660 r.? - - Del intronic D 107498813 107498816 1 18 377.334 - - 2 1 1 FBXL17|ENST00000359660|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXL17|ENST00000359660|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 5 5 7 25 27 25 27 5 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762610803 5 111354906 AC A 480 PASS - - - - - Del - D 111354906 111354908 1 16 431.239 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 7 1 9 2 43 31 43 31 9 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762612414 5 116433180 G GTTAAGAGATCC 324 PASS - - - - - Ins - I 116433180 116433191 11 48 565.581 - - 0 1 1 - - ./. 0 0 0 0 4 10 4 11 0 0 ./. 5 7 5 7 14 22 15 23 5 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762612727 5 117517204 CT C 540 PASS - - - - - Del - D 117517204 117517206 1 24 485.144 - - 1 1 1 - - ./. 0 0 0 0 10 23 10 23 0 0 ./. 2 7 4 12 12 28 12 28 4 12 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762615779 5 127430705 TTTC T 387 PASS SLC12A2 CCDS4144.1 r.? - - Del intronic D 127430705 127430709 3 21 431.239 - - 1 1 1 SLC12A2|CCDS4144.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC12A2|CCDS4144.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 8 19 8 0 0 ./. 6 2 6 3 27 26 27 26 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762618536 5 137444684 GCA G 360 PASS - - - - - Del - D 137444684 137444688 2 12 323.429 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 1 7 2 24 16 24 16 7 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762620287 5 142885627 TG T 360 PASS - - - - - Del - D 142885627 142885629 1 15 323.429 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 4 2 5 30 26 30 26 2 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762620575 5 144155273 TAGAC T 480 PASS - - - - - Del - D 144155273 144155281 4 25 431.239 - - 1 1 - - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 4 7 4 24 17 24 17 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762620710 5 144581854 T TA 780 PASS - - - - - Ins - I 144581854 144581862 1 50 692.937 - - 7 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 9 9 11 22 27 22 27 9 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762621352 5 146795536 CTA C 540 PASS DPYSL3 CCDS43381.1 r.? - - Del intronic D 146795536 146795540 2 28 483.94 - - 1 1 1 DPYSL3|CCDS43381.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPYSL3|CCDS43381.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 3 6 4 22 45 22 45 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762623331 5 153515783 CTTG C 509 PASS - - - - - Del - D 153515783 153515787 3 24 485.144 - - 1 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 2 7 2 8 26 34 26 34 2 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762623413 5 153678475 TC T 780 PASS GALNT10 CCDS4325.1 r.? - - Del intronic D 153678475 153678478 1 56 700.764 - - 2 1 1 GALNT10|CCDS4325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT10|CCDS4325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 6 7 8 9 29 24 29 24 8 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762625241 5 159740804 AG A 420 PASS CCNJL CCDS4350.2 r.? - - Del upstream D 159740804 159740810 1 20 377.334 - - 5 1 1 CCNJL|CCDS4350.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CCNJL|ENST00000377503|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 4 3 4 20 31 20 31 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762625312 5 159929459 TC T 435 PASS - - - - - Del - D 159929459 159929462 1 21 429.433 - - 2 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 6 3 7 38 29 38 29 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762627583 5 167419302 GA G 300 PASS ODZ2 ENST00000403607 r.? - - Del intronic D 167419302 167419306 1 10 268.923 - - 3 1 1 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 1 4 3 4 11 18 11 18 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762627723 5 167900222 AC A 660 PASS WWC1 CCDS4366.1 r.? - - Del downstream D 167900222 167900224 1 42 592.954 - - 1 1 1 WWC1|CCDS4366.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 WWC1|CCDS4366.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 5 8 5 23 37 23 37 8 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762627807 5 168216220 TCCTTA T 329 PASS SLIT3 CCDS4369.1 r.? - - Del intronic D 168216220 168216227 5 15 323.429 - - 1 1 1 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 2 4 3 19 25 19 25 4 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762629044 5 172170554 AG A 689 PASS - - - - - Del - D 172170554 172170558 1 45 644.451 - - 3 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 8 4 12 5 48 16 48 16 12 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762629312 5 172742487 AAC A 960 PASS STC2 CCDS4388.1 r.4580_4581delGU c.? p.? Del 3'UTR variant D 172742487 172742493 2 77 862.479 - - 2 1 1 STC2|CCDS4388.1|r.4580_4581delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 STC2|CCDS4388.1|r.4580_4581delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 8 8 8 0 0 ./. 6 10 9 14 32 28 32 28 9 14 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762630234 5 175463162 A AG 282 PASS THOC3 ENST00000514861 r.? - - Ins upstream I 175463162 175463164 1 20 372.518 - - 1 1 1 THOC3|ENST00000514861|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 THOC3|ENST00000514861|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 23 14 23 14 0 0 ./. 4 3 5 4 68 62 70 62 5 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762631160 5 177868287 TC T 600 PASS COL23A1 CCDS4436.1 r.? - - Del intronic D 177868287 177868289 1 35 538.447 - - 1 1 1 COL23A1|CCDS4436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL23A1|CCDS4436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 6 7 7 29 33 29 33 7 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762631671 5 178978557 ATC A 292 PASS RUFY1 CCDS4445.2 r.? - - Del intronic D 178978557 178978562 2 12 269.525 - - 2 1 1 RUFY1|CCDS4445.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RUFY1|CCDS4445.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 3 5 6 24 31 24 31 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762632275 5 180591532 TGGGG T 449 PASS - - - - - Del - D 180591532 180591539 4 21 431.239 - - 6 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 6 2 7 3 42 29 42 29 7 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762633446 6 3541612 CTGGAGCA C 261 PASS - - - - - Del - D 3541612 3541621 7 28 485.514 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 3 6 3 25 21 25 21 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762633628 6 3982929 T TA 600 PASS ENSG00000145965 ENST00000356722 r.21_22insa c.? p.? Ins 5'UTR variant I 3982929 3982939 1 35 533.439 - - 9 1 1 ENSG00000145965|ENST00000356722|r.21_22insa|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ENSG00000145965|ENST00000356722|r.21_22insa|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 6 4 12 15 25 15 26 4 12 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762635045 6 8011831 AG A 840 PASS MUTED CCDS4506.1 r.? - - Del downstream D 8011831 8011833 1 63 755.244 - - 1 1 1 MUTED|CCDS4506.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MUTED|CCDS4506.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 14 16 14 0 0 ./. 6 8 9 17 17 29 17 29 9 17 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762637122 6 14296712 C CT 269 PASS - - - - - Ins - I 14296712 14296720 1 12 254.076 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 12 0 0 ./. 2 3 8 3 22 29 23 30 8 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762637995 6 17222713 TGTGGAACTGTGAGTTAATTAAA T 319 PASS - - - - - Del - D 17222713 17222736 22 40 593.406 - - 1 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 7 4 7 4 36 20 36 20 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762640210 6 23290600 GA G 540 PASS - - - - - Del - D 23290600 23290604 1 30 485.514 - - 3 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 4 5 4 27 16 27 16 5 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762641306 6 26232830 AT A 300 PASS HIST1H1D CCDS4597.1 r.? - - Del downstream D 26232830 26232834 1 12 269.73 - - 3 1 1 HIST1H1D|CCDS4597.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 HIST1H1D|CCDS4597.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 7 5 21 24 21 24 7 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762642159 6 29069919 A ATG 300 PASS OR2J1 ENST00000377171 r.? - - Ins downstream I 29069919 29069930 2 12 262.505 - - 5 1 1 OR2J1|ENST00000377171|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 OR2J1|ENST00000377171|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 4 23 27 23 27 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762643556 6 32255601 AC A 360 PASS C6orf10 CCDS34422.1 r.? - - Del downstream D 32255601 32255604 1 16 323.676 - - 2 1 1 C6orf10|CCDS34422.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C6orf10|CCDS34422.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 3 7 3 21 21 21 21 7 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762645016 6 34543212 CA C 480 PASS - - - - - Del - D 34543212 34543214 1 21 431.568 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 6 2 6 6 29 32 29 32 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762645714 6 36428923 AT A 300 PASS KCTD20 CCDS4821.1 r.? - - Del intronic D 36428923 36428926 1 6 269.73 - - 2 1 1 KCTD20|CCDS4821.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KCTD20|CCDS4821.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 0 5 1 19 13 19 13 5 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762646192 6 37551485 TC T 300 PASS - - - - - Del - D 37551485 37551490 1 12 269.73 - - 4 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 2 4 3 23 30 23 30 4 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762647822 6 42942918 GACCTGA G 377 PASS PEX6 CCDS4877.1 r.? - - Del intronic D 42942918 42942926 6 54 700.094 - - 1 1 1 PEX6|CCDS4877.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PEX6|CCDS4877.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 8 5 10 7 23 35 23 35 10 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762648593 6 45483001 GT G 509 PASS RUNX2 CCDS43467.1 r.? - - Del intronic D 45483001 45483007 1 24 485.514 - - 5 1 1 RUNX2|CCDS43467.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RUNX2|CCDS43467.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 2 7 2 10 14 31 14 31 2 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762648763 6 46243012 AT A 329 PASS RCAN2 CCDS43469.1 r.? - - Del intronic D 46243012 46243014 1 12 323.676 - - 1 1 1 RCAN2|CCDS43469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RCAN2|CCDS43469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 1 5 3 6 20 19 20 19 3 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762657480 6 76313851 AT A 360 PASS SENP6 CCDS47454.1 r.? - - Del intronic D 76313851 76313854 1 16 323.676 - - 2 1 1 SENP6|CCDS47454.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SENP6|CCDS47454.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 3 6 5 15 31 15 31 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762657926 6 77960073 A AG 480 PASS - - - - - Ins - I 77960073 77960074 1 24 426.752 - - 0 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 3 5 4 6 23 20 23 20 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762657977 6 78146068 C CT 420 PASS - - - - - Ins - I 78146068 78146071 1 8 371.601 - - 2 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 0 7 1 9 12 19 12 19 1 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762660570 6 87496822 CAGTAA CATT 509 PASS - - - - - Complex - DI 87496823 87496827 5 28 0 - - 0 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 3 0 0 24 15 24 15 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762661183 6 89825580 TC T 420 PASS SFRS13B CCDS47459.1 r.? - - Del intronic D 89825580 89825583 1 18 377.02 - - 2 1 1 SFRS13B|CCDS47459.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFRS13B|CCDS47459.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 5 2 7 3 31 12 31 12 7 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762661809 6 92108745 AG A 360 PASS - - - - - Del - D 92108745 92108747 1 12 323.676 - - 1 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 1 5 4 7 28 18 28 18 4 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762663247 6 97491710 CATCTGT C 261 PASS KLHL32 CCDS5038.1 r.? - - Del intronic D 97491710 97491719 6 30 485.514 - - 1 1 1 KLHL32|CCDS5038.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KLHL32|CCDS5038.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 5 6 6 24 22 24 22 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762666372 6 109053691 T TC 360 PASS - - - - - Ins - I 109053691 109053700 1 7 318.257 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 0 6 1 5 19 25 19 26 1 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762668271 6 115194908 GTTA G 478 PASS - - - - - Del - D 115194908 115194912 3 28 485.514 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 6 3 7 4 16 17 16 17 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762669737 6 120625726 GAATC G 269 PASS - - - - - Del - D 120625726 120625733 4 12 269.73 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 3 3 5 30 23 30 23 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762671309 6 126330170 AG A 360 PASS TRMT11 CCDS35496.1 r.? - - Del intronic D 126330170 126330174 1 15 323.676 - - 3 1 1 TRMT11|CCDS35496.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRMT11|CCDS35496.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 16 7 16 0 0 ./. 4 2 5 3 14 15 14 15 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762672487 6 130973342 TA T 300 PASS - - - - - Del - D 130973342 130973345 1 10 269.128 - - 2 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 6 2 23 23 23 23 6 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762673211 6 133558923 CT C 360 PASS EYA4 CCDS5166.1 r.? - - Del upstream D 133558923 133558927 1 15 323.676 - - 3 1 1 EYA4|CCDS5166.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 EYA4|CCDS5166.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 4 2 6 14 21 14 21 2 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762674478 6 138334645 AG A 600 PASS - - - - - Del - D 138334645 138334647 1 35 537.052 - - 1 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 6 4 13 4 35 25 35 25 13 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762674743 6 139349298 TATATTAAA T 261 PASS C6orf115 CCDS43509.1 r.? - - Del upstream D 139349298 139349310 8 30 485.514 - - 1 1 1 C6orf115|CCDS43509.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C6orf115|CCDS43509.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 5 6 7 24 25 24 25 6 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762674747 6 139366440 GA G 360 PASS C6orf115 CCDS43509.1 r.? - - Del downstream D 139366440 139366442 1 15 323.676 - - 1 1 1 C6orf115|CCDS43509.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C6orf115|CCDS43509.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 2 8 4 29 26 29 26 8 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762677646 6 150929079 AT A 600 PASS PLEKHG1 CCDS34552.1 r.? - - Del intronic D 150929079 150929089 1 35 538.858 - - 9 1 1 PLEKHG1|CCDS34552.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLEKHG1|CCDS34552.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 4 6 9 8 31 26 31 26 9 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762678075 6 152165227 CT C 300 PASS ESR1 CCDS5234.1 r.? - - Del intronic D 152165227 152165231 1 12 269.73 - - 3 1 - ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 3 2 4 2 9 2 9 2 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762680280 6 159291842 T TC 300 PASS C6orf99 ENST00000367073 r.? - - Ins intronic I 159291842 159291844 1 12 266.72 - - 1 1 1 C6orf99|ENST00000367073|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C6orf99|ENST00000367073|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 5 5 16 28 16 28 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762684659 7 2293869 G GC 1169 PASS SNX8 CCDS5331.1 r.? - - Ins downstream I 2293869 2293877 1 117 1060.57 - - 7 1 1 SNX8|CCDS5331.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SNX8|CCDS5331.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 13 7 13 7 0 0 ./. 8 12 10 12 30 42 30 42 10 12 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762684840 7 2692051 GC G 720 PASS TTYH3 CCDS34588.1 r.? - - Del intronic D 2692051 2692054 1 49 645.012 - - 2 1 1 TTYH3|CCDS34588.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTYH3|CCDS34588.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 6 6 9 9 40 48 40 48 9 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762685584 7 4643070 AAC A 300 PASS - - - - - Del - D 4643070 4643090 2 12 267.701 - - 9 1 - - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 2 5 2 54 38 54 38 5 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762687127 7 7770356 G GA 720 PASS ENSG00000219545 ENST00000433511 r.? - - Ins intronic I 7770356 7770365 1 45 639.593 - - 8 1 1 ENSG00000219545|ENST00000433511|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000219545|ENST00000433511|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 8 4 9 13 25 37 26 37 9 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762687255 7 8131473 TTTGGAGTAGGTCTAAGACAA T 365 PASS GLCCI1 CCDS34601.1 r.? - - Del downstream D 8131473 8131494 20 56 698.311 - - 1 1 1 GLCCI1|CCDS34601.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 GLCCI1|CCDS34601.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 13 7 13 0 0 ./. 7 6 7 4 26 38 26 40 7 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762691398 7 21174533 AT A 420 PASS - - - - - Del - D 21174533 21174539 1 20 376.106 - - 5 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 3 5 3 25 31 25 31 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762691408 7 21211055 A AT 720 PASS - - - - - Ins - I 21211055 21211057 1 49 639.593 - - 1 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 6 6 10 6 38 27 38 27 10 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762691443 7 21312290 G GT 540 PASS - - - - - Ins - I 21312290 21312292 1 30 479.695 - - 1 1 1 - - ./. 0 0 0 0 13 8 14 8 0 0 ./. 4 5 6 8 32 32 33 32 6 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762691794 7 22255049 T TC 540 PASS RAPGEF5 ENST00000344041 r.? - - Ins intronic I 22255049 22255052 1 30 479.093 - - 2 1 1 RAPGEF5|ENST00000344041|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAPGEF5|ENST00000344041|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 10 16 0 0 ./. 4 5 5 6 28 23 28 23 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762691887 7 22541865 T TG 507 PASS ENSG00000105889 ENST00000404369 r.? - - Ins upstream I 22541865 22541874 1 35 532.392 - - 8 1 1 ENSG00000105889|ENST00000404369|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ENSG00000105889|ENST00000441815|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 6 4 8 4 42 22 42 23 8 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762693304 7 26842931 CT C 660 PASS SKAP2 CCDS5400.1 r.? - - Del intronic D 26842931 26842935 1 40 592.916 - - 3 1 1 SKAP2|CCDS5400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SKAP2|CCDS5400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 7 9 10 35 34 35 34 9 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762694955 7 32064902 GT G 660 PASS PDE1C CCDS5437.1 r.? - - Del intronic D 32064902 32064904 1 40 592.916 - - 1 1 1 PDE1C|CCDS5437.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE1C|CCDS5437.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 7 4 8 4 49 26 49 26 8 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762695076 7 32466495 CA C 300 PASS - - - - - Del - D 32466495 32466498 1 12 267.701 - - 2 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 3 2 4 26 25 26 25 2 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762696001 7 35094136 GA G 263 PASS - - - - - Del - D 35094136 35094141 1 12 269.507 - - 4 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 5 3 22 29 22 29 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762698745 7 43236808 GA G 960 PASS HECW1 CCDS5469.2 r.? - - Del intronic D 43236808 43236818 1 80 860.016 - - 9 1 1 HECW1|CCDS5469.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HECW1|CCDS5469.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 9 7 15 8 49 26 49 26 15 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762699973 7 46989002 CT C 660 PASS - - - - - Del - D 46989002 46989005 1 36 592.916 - - 2 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 8 3 8 3 40 29 40 29 8 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762700061 7 47270043 TA T 360 PASS - - - - - Del - D 47270043 47270051 1 16 323.409 - - 7 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 3 7 4 27 27 27 27 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762700514 7 48606370 CA C 300 PASS ABCA13 CCDS47584.1 r.? - - Del intronic D 48606370 48606372 1 12 269.507 - - 1 1 1 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 2 5 20 27 20 27 2 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762700566 7 48796233 GA G 420 PASS - - - - - Del - D 48796233 48796240 1 18 377.31 - - 6 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 2 7 4 38 15 38 15 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762701681 7 52420107 A AT 780 PASS - - - - - Ins - I 52420107 52420110 1 54 692.291 - - 2 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 8 7 9 28 40 29 40 7 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762701830 7 52801446 GT G 360 PASS - - - - - Del - D 52801446 52801448 1 16 323.409 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 3 7 35 25 35 25 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762702801 7 55587958 A AAT 420 PASS VOPP1 CCDS47588.1 r.? - - Ins intronic I 55587958 55587967 2 18 368.882 - - 4 1 1 VOPP1|CCDS47588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VOPP1|CCDS47588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 5 3 5 34 28 34 28 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762702895 7 55883921 GATAGT G 325 PASS SEPT14 CCDS5519.2 r.? - - Del intronic D 55883921 55883927 5 24 431.212 - - 1 1 1 SEPT14|CCDS5519.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEPT14|CCDS5519.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 26 12 26 0 0 ./. 3 5 6 6 25 28 25 28 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762706675 7 66486074 TGTTACTCTTTA T 349 PASS TYW1 CCDS5538.1 r.? - - Del intronic D 66486074 66486089 11 56 700.719 - - 1 1 1 TYW1|CCDS5538.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TYW1|CCDS5538.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 7 6 7 6 46 27 46 27 7 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762706933 7 66967613 CAG C 360 PASS - - - - - Del - D 66967613 66967630 2 15 323.409 - - 8 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 2 4 2 4 29 37 29 37 2 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762709808 7 73946257 CT C 689 PASS GTF2IRD1 CCDS5571.1 r.? - - Del intronic D 73946257 73946259 1 45 645.012 - - 1 1 1 GTF2IRD1|CCDS5571.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GTF2IRD1|CCDS5571.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 4 8 4 12 31 40 31 40 4 12 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762711447 7 78789405 TA T 300 PASS MAGI2 CCDS5594.1 r.? - - Del intronic D 78789405 78789408 1 10 269.507 - - 2 1 1 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 1 7 2 21 27 21 27 7 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762712162 7 81109911 CT C 357 PASS - - - - - Del - D 81109911 81109915 1 16 323.409 - - 3 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 3 3 5 6 29 28 29 28 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762712874 7 83321861 TA T 300 PASS - - - - - Del - D 83321861 83321864 1 12 269.507 - - 2 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 4 4 24 11 24 11 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762713760 7 86742115 A AAT 360 PASS ENSG00000233957 ENST00000434831 r.? - - Ins intronic I 86742115 86742128 2 7 316.184 - - 6 1 1 ENSG00000233957|ENST00000434831|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000233957|ENST00000434831|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 0 8 1 29 15 29 15 8 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762715577 7 94006018 AT A 480 PASS - - - - - Del - D 94006018 94006025 1 24 431.212 - - 6 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 3 5 5 26 26 26 26 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762715641 7 94287866 GTGTGAACCC G 364 PASS SGCE CCDS47642.1 r.? - - Del upstream D 94287866 94287877 9 48 754.019 - - 1 1 1 SGCE|CCDS47642.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PEG10|ENST00000482108|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 11 4 11 22 42 22 42 4 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762715865 7 95117683 A AT 540 PASS ASB4 CCDS5641.1 r.? - - Ins intronic I 95117683 95117691 1 28 467.052 - - 7 1 1 ASB4|CCDS5641.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASB4|CCDS5641.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 23 18 24 0 0 ./. 6 3 15 7 33 28 33 28 15 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762717153 7 98962231 GAA G 600 PASS ARPC1A CCDS5660.1 r.? - - Del intronic D 98962231 98962234 2 36 537.209 - - 2 1 1 ARPC1A|CCDS5660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARPC1A|CCDS5660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 5 10 7 24 22 24 22 10 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762719187 7 104252444 C CT 360 PASS LHFPL3 ENST00000424859 r.? - - Ins intronic I 104252444 104252453 1 12 319.797 - - 8 1 1 LHFPL3|ENST00000424859|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LHFPL3|ENST00000424859|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 7 8 7 0 0 ./. 1 5 3 7 22 29 23 29 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762720250 7 107535777 CAAATCTTATTATG C 261 PASS DLD CCDS5749.1 r.? - - Del intronic D 107535777 107535792 13 30 485.113 - - 1 1 1 DLD|CCDS5749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLD|CCDS5749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 5 4 5 23 27 23 27 4 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762720476 7 108362129 CTGTCTGTGTCACTGCTGTCATGGCA C 377 PASS - - - - - Del - D 108362129 108362158 25 56 700.117 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 7 4 7 23 26 25 26 6 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762721107 7 110630534 GT G 360 PASS IMMP2L CCDS5753.1 r.? - - Del intronic D 110630534 110630537 1 15 321.603 - - 2 1 1 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 2 5 3 20 14 20 14 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762723281 7 120075786 GAT G 300 PASS KCND2 CCDS5776.1 r.? - - Del intronic D 120075786 120075804 2 6 269.507 - - 8 1 1 KCND2|CCDS5776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCND2|CCDS5776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 0 6 0 34 22 34 22 6 0 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762724543 7 124439927 CT C 360 PASS - - - - - Del - D 124439927 124439929 1 16 317.388 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 3 4 4 19 25 19 25 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762726041 7 129017558 CA C 540 PASS AHCYL2 CCDS5812.1 r.? - - Del intronic D 129017558 129017565 1 18 484.511 - - 6 1 1 AHCYL2|CCDS5812.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AHCYL2|CCDS5812.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 1 8 3 11 8 36 8 36 3 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762729133 7 137655019 AC A 389 PASS CREB3L2 CCDS34760.1 r.? - - Del intronic D 137655019 137655021 1 14 374.3 - - 1 1 1 CREB3L2|CCDS34760.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CREB3L2|CCDS34760.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 1 7 2 23 21 23 21 7 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762729178 7 137778522 TC T 660 PASS AKR1D1 CCDS5846.1 r.? - - Del intronic D 137778522 137778524 1 42 592.916 - - 1 1 1 AKR1D1|CCDS5846.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AKR1D1|CCDS5846.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 5 7 5 31 23 31 23 7 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762729851 7 139581249 CT C 300 PASS TBXAS1 CCDS5855.1 r.? - - Del intronic D 139581249 139581255 1 10 267.701 - - 5 1 1 TBXAS1|CCDS5855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBXAS1|CCDS5855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 1 5 0 22 17 22 17 5 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762729910 7 139801081 TAGG T 360 PASS JHDM1D CCDS43658.1 r.? - - Del intronic D 139801081 139801085 3 15 323.409 - - 1 1 1 JHDM1D|CCDS43658.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JHDM1D|CCDS43658.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 4 2 4 2 36 24 36 24 4 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762734314 7 152754488 C CT 1109 PASS - - - - - Ins - I 152754488 152754495 1 108 1008.47 - - 6 1 1 - - ./. 0 0 0 0 9 13 9 14 0 0 ./. 8 11 10 12 41 29 41 29 10 12 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762735325 7 155653348 CT C 780 PASS - - - - - Del - D 155653348 155653350 1 54 700.719 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 8 5 11 33 40 33 40 5 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762735599 7 156484721 AG A 300 PASS LMBR1 CCDS5945.1 r.? - - Del intronic D 156484721 156484724 1 10 267.099 - - 2 1 1 LMBR1|CCDS5945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMBR1|CCDS5945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 1 4 4 22 32 22 32 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762737898 8 4464875 TGATTCTGA T 319 PASS - - - - - Del - D 4464875 4464886 8 22 593.6 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 10 1 11 1 32 9 32 9 11 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762738570 8 6604684 TG T 960 PASS AGPAT5 CCDS34796.1 r.? - - Del intronic D 6604684 6604686 1 80 863.09 - - 1 1 1 AGPAT5|CCDS34796.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGPAT5|CCDS34796.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 6 17 6 0 0 ./. 9 7 11 9 23 21 23 21 11 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762739660 8 11173862 CCTAGA C 327 PASS MTMR9 CCDS5979.1 r.? - - Del intronic D 11173862 11173868 5 18 378.129 - - 1 1 1 MTMR9|CCDS5979.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AF131216.1|ENST00000498997|r.5357_5361delUCUAG|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 14 2 14 2 0 0 ./. 5 2 6 3 14 13 14 13 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762739670 8 11193726 GT G 840 PASS AMAC1L2 CCDS5980.1 r.? - - Del downstream D 11193726 11193728 1 63 756.258 - - 1 1 1 AMAC1L2|CCDS5980.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TDH|ENST00000326605|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 6 9 6 9 0 0 ./. 8 6 9 7 22 19 22 19 9 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762740466 8 13691962 CTA C 540 PASS - - - - - Del - D 13691962 13691967 2 18 480.747 - - 2 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 8 1 8 1 17 10 17 10 8 1 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762740850 8 14726160 AATT A 360 PASS SGCZ CCDS5992.2 r.? - - Del intronic D 14726160 14726165 3 16 324.111 - - 1 1 1 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 3 3 3 16 19 16 19 3 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762744587 8 28347201 G GGCAA 447 PASS FZD3 CCDS6069.1 r.? - - Ins upstream I 28347201 28347207 4 30 448.838 - - 1 1 1 FZD3|CCDS6069.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 FBXO16|CCDS6068.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 4 9 5 12 19 12 19 9 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762745686 8 32136480 CTG C 780 PASS NRG1 CCDS47836.1 r.? - - Del intronic D 32136480 32136486 2 54 702.239 - - 2 1 1 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 8 6 11 14 26 14 26 6 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762745899 8 32824084 GA G 480 PASS - - - - - Del - D 32824084 32824088 1 24 432.147 - - 3 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 5 5 6 13 20 13 20 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762746318 8 34813227 TA T 300 PASS - - - - - Del - D 34813227 34813231 1 12 270.092 - - 3 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 2 3 3 16 11 16 11 3 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762746516 8 35953227 C CA 360 PASS - - - - - Ins - I 35953227 35953232 1 12 318.09 - - 4 1 - - - ./. 0 0 0 0 2 8 2 8 0 0 ./. 1 5 0 1 6 26 7 26 1 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762747165 8 39337438 TG T 600 PASS - - - - - Del - D 39337438 39337442 1 27 539.582 - - 3 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 8 2 12 9 22 9 22 2 12 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762749883 8 52156493 TAGA T 480 PASS - - - - - Del - D 52156493 52156497 3 21 432.147 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 6 2 9 4 32 26 32 26 9 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762750397 8 53816355 TG T 540 PASS - - - - - Del - D 53816355 53816357 1 28 486.166 - - 1 1 - - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 6 5 6 19 36 19 36 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762751283 8 56826658 GGT G 360 PASS - - - - - Del - D 56826658 56826676 2 15 318.692 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 4 2 5 39 52 39 52 2 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762751436 8 57262454 TTTG TC 418 PASS - - - - - Complex - DI 57262455 57262457 3 24 0 - - 0 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 5 0 0 18 51 18 51 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762753225 8 64269472 GA G 623 PASS - - - - - Del - D 64269472 64269475 1 36 594.203 - - 2 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 8 3 13 4 38 31 38 31 13 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762754531 8 69433920 AT A 540 PASS C8orf34 CCDS6203.1 r.? - - Del intronic D 69433920 69433923 1 28 484.962 - - 2 1 1 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 6 3 7 29 33 29 33 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762754593 8 69737289 C CT 900 PASS - - - - - Ins - I 69737289 69737297 1 66 801.245 - - 7 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 10 5 12 8 31 30 31 31 12 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762754763 8 70362236 TG T 600 PASS - - - - - Del - D 70362236 70362238 1 32 539.582 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 7 3 10 4 35 40 35 40 10 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762755470 8 72502536 TTC T 780 PASS - - - - - Del - D 72502536 72502539 2 54 702.239 - - 1 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 5 8 7 11 24 26 24 26 7 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762755827 8 73571590 ATAGAT A 389 PASS KCNB2 CCDS6209.1 r.? - - Del intronic D 73571590 73571596 5 14 378.129 - - 1 1 1 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 1 6 1 6 34 33 34 33 1 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762758990 8 84195920 C CA 360 PASS - - - - - Ins - I 84195920 84195925 1 15 320.498 - - 4 1 1 - - ./. 0 0 0 0 8 11 9 11 0 0 ./. 4 2 6 3 23 26 23 26 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762762989 8 97955968 TGTA T 420 PASS ENSG00000104324 CCDS6273.1 r.? - - Del intronic D 97955968 97955973 3 20 378.129 - - 1 1 1 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 3 4 3 16 31 16 31 4 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762763071 8 98379478 T TA 300 PASS - - - - - Ins - I 98379478 98379488 1 12 256.847 - - 9 1 1 - - ./. 0 0 0 0 9 15 10 16 0 0 ./. 2 3 2 4 25 25 26 25 2 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762765291 8 106134458 AT A 360 PASS - - - - - Del - D 106134458 106134467 1 15 324.111 - - 8 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 2 5 3 36 22 36 22 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762765306 8 106185039 GTTTAT G 834 PASS - - - - - Del - D 106185039 106185045 5 88 917.711 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 7 10 8 11 23 29 24 29 9 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762765431 8 106571495 GTACTTAGGC G 290 PASS ZFPM2 CCDS47908.1 r.? - - Del intronic D 106571495 106571505 9 35 540.184 - - 1 1 1 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 4 6 4 26 27 26 27 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762766437 8 109980198 CCTGA C 358 PASS - - - - - Del - D 109980198 109980204 4 20 378.129 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 3 7 3 36 24 36 24 7 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762768250 8 116714329 CTCTT C 449 PASS TRPS1 ENST00000422939 r.? - - Del intronic D 116714329 116714335 4 16 430.943 - - 1 1 1 TRPS1|ENST00000422939|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRPS1|ENST00000422939|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 7 1 10 2 33 34 33 34 10 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762768458 8 117463992 CCTTATGAAACCATCAGAT C 435 PASS - - - - - Del - D 117463992 117464014 18 72 810.276 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 7 8 6 8 26 23 27 23 7 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762768987 8 119314565 TTCATTTA T 377 PASS SAMD12 CCDS47913.1 r.? - - Del intronic D 119314565 119314574 7 50 702.239 - - 1 1 1 SAMD12|CCDS47913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SAMD12|CCDS47913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 9 4 12 5 38 26 38 26 12 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762769215 8 120034857 CT C 900 PASS - - - - - Del - D 120034857 120034863 1 66 810.276 - - 5 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 10 5 12 6 43 22 43 22 12 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762772170 8 129586097 TG T 600 PASS - - - - - Del - D 129586097 129586101 1 27 540.184 - - 3 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 8 2 8 29 34 29 34 2 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762772494 8 130782281 ACT A 660 PASS GSDMC CCDS6360.1 r.? - - Del intronic D 130782281 130782286 2 40 594.203 - - 2 1 1 GSDMC|CCDS6360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GSDMC|CCDS6360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 4 7 6 11 13 30 13 30 6 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762772528 8 130870772 AG A 360 PASS FAM49B CCDS6361.1 r.? - - Del intronic D 130870772 130870774 1 16 324.111 - - 1 1 1 FAM49B|CCDS6361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM49B|CCDS6361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 3 4 3 32 25 32 25 4 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762773637 8 134604743 ATACC A 449 PASS - - - - - Del - D 134604743 134604751 4 25 432.147 - - 1 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 4 4 5 6 49 42 49 42 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762774107 8 136324047 CA C 1020 PASS - - - - - Del - D 136324047 136324049 1 84 918.313 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 6 11 6 13 34 41 34 41 6 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762775255 8 139907883 GA G 960 PASS COL22A1 CCDS6376.1 r.? - - Del intronic D 139907883 139907892 1 72 864.295 - - 8 1 1 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 11 6 13 30 51 30 51 6 13 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762776864 8 144789776 CCCCCGGCCCGG C 261 PASS - - - - - Del - D 144789776 144789790 11 24 471.114 - - 1 1 - - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 7 2 16 6 39 24 39 24 16 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762779044 9 8231767 GC G 480 PASS - - - - - Del - D 8231767 8231771 1 21 433.346 - - 3 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 6 2 7 17 17 17 17 2 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762780019 9 12095460 T TA 360 PASS - - - - - Ins - I 12095460 12095469 1 16 321.397 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 3 4 4 14 17 14 17 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762780505 9 13892579 TGTG TC 389 PASS - - - - - Complex - DI 13892580 13892582 3 20 0 - - 0 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 4 0 0 15 17 15 17 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762782326 9 19793599 CTT C 600 PASS - - - - - Del - D 19793599 19793604 2 36 541.08 - - 4 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 5 6 7 18 20 18 20 6 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762785092 9 32174756 CATGTTTTGCTATT C 290 PASS - - - - - Del - D 32174756 32174771 13 27 541.682 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 8 2 7 2 21 17 22 17 8 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762786149 9 35376805 CATGATGGAG C 348 PASS UNC13B CCDS6579.1 r.? - - Del intronic D 35376805 35376815 9 48 650.019 - - 1 1 1 UNC13B|CCDS6579.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC13B|CCDS6579.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 6 18 6 0 0 ./. 5 7 8 7 20 24 20 24 8 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762792307 9 77622072 TACTTTA T 261 PASS C9orf41 CCDS6649.1 r.? - - Del intronic D 77622072 77622079 6 30 487.514 - - 1 1 1 C9orf41|CCDS6649.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9orf41|CCDS6649.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 4 7 3 13 15 13 16 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762792834 9 79440485 GTGTT G 607 PASS PRUNE2 CCDS47982.1 r.? - - Del intronic D 79440485 79440491 4 45 649.417 - - 1 1 1 PRUNE2|CCDS47982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRUNE2|CCDS47982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 8 4 10 20 27 20 27 4 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762795879 9 91554403 AGGCC A 538 PASS - - - - - Del - D 91554403 91554408 4 36 541.682 - - 1 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 5 6 5 15 16 15 16 6 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762798374 9 101876942 G GAC 660 PASS TGFBR1 CCDS6738.1 r.? - - Ins intronic I 101876942 101876946 2 42 582.605 - - 1 1 1 TGFBR1|CCDS6738.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TGFBR1|CCDS6738.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 6 5 7 5 22 22 22 22 7 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762799348 9 105696935 AT A 480 PASS - - - - - Del - D 105696935 105696945 1 21 433.346 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 2 8 5 20 17 20 17 8 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762801431 9 113679505 TG T 420 PASS LPAR1 CCDS6777.1 r.? - - Del intronic D 113679505 113679507 1 20 377.371 - - 1 1 1 LPAR1|CCDS6777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPAR1|CCDS6777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 3 4 5 6 17 12 17 12 5 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762803861 9 123078316 AT A 569 PASS - - - - - Del - D 123078316 123078318 1 35 541.682 - - 1 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 6 4 8 7 19 16 19 16 8 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762804497 9 125766257 GC G 780 PASS RABGAP1 CCDS6848.2 r.? - - Del intronic D 125766257 125766260 1 54 703.585 - - 2 1 1 RABGAP1|CCDS6848.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RABGAP1|CCDS6848.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 8 5 9 6 16 12 16 12 9 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762805072 9 127966974 CTCT C 389 PASS RABEPK CCDS6862.1 r.? - - Del intronic D 127966974 127966982 3 20 371.351 - - 2 1 1 RABEPK|CCDS6862.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RABEPK|CCDS6862.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 4 3 5 16 20 16 20 3 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762805600 9 129787180 C CT 660 PASS RALGPS1 CCDS35143.1 r.? - - Ins intronic I 129787180 129787189 1 42 585.013 - - 8 1 1 RALGPS1|CCDS35143.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RALGPS1|CCDS35143.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 6 6 6 21 17 21 17 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762806152 9 131646673 C CTCAT 449 PASS LRRC8A CCDS35155.1 r.? - - Ins intronic I 131646673 131646701 4 21 408.059 - - 6 1 - LRRC8A|CCDS35155.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LRRC8A|CCDS35155.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 6 2 7 3 36 39 37 39 7 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762807995 9 137887276 CGGCCA C 803 PASS - - - - - Del - D 137887276 137887283 5 78 900.39 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 12 5 13 7 34 28 34 28 13 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762809220 X 3706667 AG A 360 PASS - - - - - Del - D 3706667 3706671 1 7 324.487 - - 3 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 6 0 7 0 43 17 43 17 7 0 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762809224 X 3718608 AGTGGC A 290 PASS - - - - - Del - D 3718608 3718617 5 35 540.811 - - 1 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 4 6 4 9 22 25 22 25 4 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762809876 X 5804890 GC G 660 PASS NLGN4X CCDS14126.1 r.? - - Del downstream D 5804890 5804894 1 42 594.29 - - 3 1 1 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 11 17 11 0 0 ./. 5 6 6 6 29 31 29 31 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762809942 X 5980327 TA T 600 PASS NLGN4X CCDS14126.1 r.? - - Del intronic D 5980327 5980334 1 35 540.811 - - 6 1 1 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 6 4 10 4 43 25 43 25 10 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762810649 X 8750709 GCC G 569 PASS - - - - - Del - D 8750709 8750712 2 36 538.403 - - 2 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 5 5 5 5 48 30 48 30 5 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762811135 X 10386587 CT C 654 PASS - - - - - Del - D 10386587 10386595 1 42 594.892 - - 7 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 6 5 13 11 33 30 33 30 13 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762812107 X 14422782 GTGC G 300 PASS - - - - - Del - D 14422782 14422787 3 12 270.406 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 3 4 25 27 25 27 3 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762812360 X 15554189 C CA 540 PASS BMX CCDS14168.1 r.? - - Ins intronic I 15554189 15554196 1 24 481.312 - - 6 1 1 BMX|CCDS14168.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BMX|CCDS14168.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 7 2 14 5 36 26 36 28 14 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762812412 X 15713696 AG A 960 PASS INE2 ENST00000498004 r.? - - Del intronic D 15713696 15713699 1 80 864.094 - - 2 1 1 INE2|ENST00000498004|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 INE2|ENST00000498004|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 7 9 7 12 39 44 39 44 7 12 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762814062 X 23090293 AAAC A 689 PASS - - - - - Del - D 23090293 23090308 3 48 648.372 - - 4 1 1 - - ./. 0 0 0 0 11 23 11 23 0 0 ./. 7 5 7 8 39 32 39 32 7 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762815098 X 26966964 CTCTTT C 389 PASS - - - - - Del - D 26966964 26966980 5 20 378.568 - - 3 1 1 - - ./. 0 0 0 0 18 22 18 22 0 0 ./. 4 3 5 3 29 23 29 23 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762816133 X 30925782 G GA 720 PASS TAB3 CCDS14226.1 r.? - - Ins intronic I 30925782 30925789 1 48 641.749 - - 6 1 1 TAB3|CCDS14226.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TAB3|CCDS14226.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 5 7 7 9 17 25 17 25 7 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762816499 X 32069174 TC T 600 PASS DMD CCDS14233.1 r.? - - Del intronic D 32069174 32069178 1 35 540.811 - - 3 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 6 4 6 16 35 16 35 4 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762817578 X 37784545 CA C 360 PASS ENSG00000250349 ENST00000465127 r.? - - Del intronic D 37784545 37784547 1 15 323.885 - - 1 1 1 ENSG00000250349|ENST00000465127|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000250349|ENST00000465127|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 2 6 2 37 27 37 27 6 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762818984 X 43667559 AATTAAATT A 464 PASS MAOB CCDS14261.1 r.? - - Del intronic D 43667559 43667571 8 77 864.696 - - 1 1 1 MAOB|CCDS14261.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAOB|CCDS14261.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 10 7 16 25 34 25 34 7 16 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762821800 X 55549812 C CACACATATATGTATATATATGTATATATATACACATATGTGTGTGT 300 PASS - - - - - Ins - I 55549812 55549823 46 12 131.932 - - 0 1 - - - ./. 0 0 0 0 16 11 17 11 0 0 ./. 2 3 0 0 25 41 26 41 2 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762822654 X 62773244 A ACAGATT 261 PASS - - - - - Ins - I 62773244 62773255 6 24 454.219 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 7 2 7 27 23 27 23 2 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762823920 X 69790049 AC A 697 PASS TEX11 CCDS35323.1 r.? - - Del intronic D 69790049 69790053 1 45 648.974 - - 3 1 1 TEX11|CCDS35323.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TEX11|CCDS35323.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 8 4 9 41 47 41 47 4 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762823962 X 69906141 TGC T 540 PASS TEX11 CCDS35323.1 r.? - - Del intronic D 69906141 69906144 2 24 484.924 - - 1 1 1 TEX11|CCDS35323.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TEX11|CCDS35323.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 7 2 7 5 42 21 42 21 7 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762824572 X 72408050 TA T 390 PASS - - - - - Del - D 72408050 72408052 1 27 540.811 - - 1 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 2 8 3 8 37 32 37 32 3 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762824650 X 72874942 TG T 660 PASS CHIC1 CCDS35335.2 r.? - - Del intronic D 72874942 72874944 1 36 593.086 - - 1 1 1 CHIC1|CCDS35335.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHIC1|CCDS35335.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 3 8 5 9 23 33 23 33 5 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762825478 X 76967325 C CA 840 PASS ATRX CCDS14434.1 r.? - - Ins intronic I 76967325 76967334 1 60 744.493 - - 8 1 1 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 11 18 0 0 ./. 5 9 9 14 34 40 34 41 9 14 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762825714 X 77787139 CA C 480 PASS - - - - - Del - D 77787139 77787141 1 24 432.649 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 3 8 4 32 34 32 34 8 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762825813 X 78280802 CAG C 420 PASS - - - - - Del - D 78280802 78280807 2 20 378.568 - - 2 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 3 5 3 22 13 22 13 5 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762826024 X 78909727 CTTTTTTTTTTTTTT C 268 PASS - - - - - Del - D 78909727 78909758 14 27 520.341 - - 2 1 - - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 2 8 4 5 15 36 15 37 4 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762826523 X 80641088 TATTAAATAAAGA T 365 PASS - - - - - Del - D 80641088 80641103 12 54 703.055 - - 1 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 5 8 5 8 34 21 34 21 5 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762826846 X 82487987 CG C 960 PASS - - - - - Del - D 82487987 82487989 1 80 863.492 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 9 7 11 8 40 40 40 40 11 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762826900 X 82806747 C CA 720 PASS - - - - - Ins - I 82806747 82806756 1 48 639.341 - - 8 1 1 - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 5 7 9 10 26 26 26 26 9 11 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762827422 X 84781493 AT A 360 PASS - - - - - Del - D 84781493 84781496 1 12 324.487 - - 2 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 1 5 3 7 25 47 25 47 3 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762828620 X 89140282 TATTA T 281 PASS - - - - - Del - D 89140282 89140290 4 30 486.73 - - 1 1 1 - - ./. 0 0 0 0 4 6 4 6 0 0 ./. 5 4 5 7 11 12 11 12 5 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762828783 X 89712753 TTATGCCCAGGCA T 348 PASS - - - - - Del - D 89712753 89712766 12 40 648.974 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 9 2 10 37 35 38 35 3 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762828835 X 89909323 AT A 346 PASS - - - - - Del - D 89909323 89909327 1 12 324.487 - - 3 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 5 1 5 4 19 24 19 24 5 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762829514 X 92930615 TG T 420 PASS FAM133A CCDS14466.1 r.? - - Del intronic D 92930615 92930620 1 20 378.568 - - 4 1 1 FAM133A|CCDS14466.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM133A|CCDS14466.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 4 4 4 19 18 19 18 4 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762830052 X 95708794 TAC T 300 PASS - - - - - Del - D 95708794 95708814 2 12 268.6 - - 9 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 2 3 2 33 26 33 26 3 2 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762831570 X 101755753 CCTGTGCATT C 261 PASS - - - - - Del - D 101755753 101755764 9 24 486.73 - - 1 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 7 2 7 23 42 23 42 2 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762832683 X 107182720 AG A 480 PASS - - - - - Del - D 107182720 107182722 1 25 432.649 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 4 7 6 40 43 40 43 7 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762832699 X 107284093 C CGTGTGTGTGTGTGT 280 PASS VSIG1 CCDS14535.1 r.? - - Ins upstream I 107284093 107284110 14 9 365.218 - - 8 1 1 VSIG1|CCDS14535.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 VSIG1|CCDS14535.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 18 14 19 14 0 0 ./. 8 0 1 0 35 43 44 43 8 0 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762832995 X 108901901 GC G 840 PASS ACSL4 CCDS14548.1 r.? - - Del intronic D 108901901 108901905 1 55 757.136 - - 3 1 1 ACSL4|CCDS14548.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACSL4|CCDS14548.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 10 7 14 32 52 32 52 7 14 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762833166 X 109631411 AATG A 358 PASS AMMECR1 ENST00000372057 r.? - - Del intronic D 109631411 109631416 3 20 378.568 - - 1 1 1 AMMECR1|ENST00000372057|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 AMMECR1|ENST00000372057|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 4 3 7 4 32 22 32 22 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762834603 X 115988792 AAAAAC A 449 PASS - - - - - Del - D 115988792 115988799 5 24 432.649 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 5 6 6 33 34 33 34 6 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762835800 X 120242000 ATGAT A 658 PASS - - - - - Del - D 120242000 120242008 4 45 648.372 - - 1 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 4 8 6 14 20 25 20 25 6 14 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762836288 X 122173218 GA G 780 PASS - - - - - Del - D 122173218 122173225 1 54 703.055 - - 6 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 8 5 10 7 29 27 29 27 10 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762837508 X 127341148 GA G 420 PASS - - - - - Del - D 127341148 127341158 1 18 378.568 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 5 3 6 25 15 25 15 3 6 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762838217 X 131596704 ATG A 300 PASS MBNL3 ENST00000370844 r.? - - Del intronic D 131596704 131596719 2 12 270.406 - - 7 1 - MBNL3|ENST00000370844|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MBNL3|ENST00000370844|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 2 3 22 29 22 29 2 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762838769 X 134518143 TC T 720 PASS - - - - - Del - D 134518143 134518146 1 48 648.974 - - 2 1 1 - - ./. 0 0 0 0 11 2 11 2 0 0 ./. 5 7 6 9 31 30 31 30 6 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762838845 X 134986526 CCTT C 389 PASS SAGE1 CCDS14652.1 r.? - - Del intronic D 134986526 134986536 3 18 378.568 - - 3 1 1 SAGE1|CCDS14652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SAGE1|CCDS14652.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 2 5 4 26 28 27 28 6 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762839043 X 135850090 GC G 869 PASS ARHGEF6 CCDS14660.1 r.? - - Del intronic D 135850090 135850092 1 72 810.013 - - 1 1 1 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 8 7 9 9 29 36 29 36 9 9 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762840051 X 140357075 TG T 389 PASS - - - - - Del - D 140357075 140357080 1 18 378.568 - - 4 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 5 3 8 25 39 25 39 3 8 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762840423 X 141938613 CA C 480 PASS - - - - - Del - D 141938613 141938619 1 24 432.649 - - 5 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 5 4 5 24 13 24 13 4 5 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762841288 X 145378444 TG T 660 PASS - - - - - Del - D 145378444 145378448 1 40 594.893 - - 3 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 7 4 7 4 37 37 37 37 7 4 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762841303 X 145416335 TAC T 360 PASS - - - - - Del - D 145416335 145416340 2 15 323.885 - - 2 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 2 6 3 37 27 37 27 6 3 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762842768 X 151323348 G GT 840 PASS - - - - - Ins - I 151323348 151323355 1 63 741.482 - - 6 1 1 - - ./. 0 0 0 0 14 14 14 15 0 0 ./. 6 8 7 10 31 51 31 51 7 10 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762842884 X 152060582 CTATTT C 389 PASS - - - - - Del - D 152060582 152060592 5 14 377.364 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 1 6 2 7 33 42 33 42 2 7 1 1 1 1 1 1 1 1 2772651 PD7454a PD7454b 2762843278 X 153923158 T TTG 420 PASS GAB3 CCDS48198.1 r.? - - Ins intronic I 153923158 153923159 2 20 370.139 - - 0 1 1 GAB3|CCDS48198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GAB3|CCDS48198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 3 5 3 26 21 26 21 5 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758782852 1 33475575 CAG C 280 PASS AK2 CCDS373.1 r.1594_1595delCU c.? p.? Del 3'UTR variant D 33475575 33475578 2 9 430.009 - - 1 1 1 AK2|CCDS373.1|r.1594_1595delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 AK2|CCDS373.1|r.1594_1595delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 16 13 16 0 0 ./. 8 0 8 0 41 23 41 23 8 0 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758785730 1 43010036 CAGTG C 389 PASS CCDC30 CCDS30690.1 r.? - - Del intronic D 43010036 43010042 4 20 376.258 - - 1 1 1 CCDC30|CCDS30690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC30|CCDS30690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 3 5 5 14 20 14 20 5 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758787412 1 48418323 GTGTC G 807 PASS - - - - - Del - D 48418323 48418333 4 72 801.45 - - 2 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 7 8 8 12 31 27 31 27 8 12 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758799837 1 100162490 TGTGAGGACTCAATTTGTCAGCGAATTAAAAGAACCAG T 493 PASS PALMD CCDS758.1 r.? - - Del downstream D 100162490 100162531 37 90 911.963 - - 1 1 1 PALMD|CCDS758.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PALMD|CCDS758.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 13 15 13 0 0 ./. 9 8 6 5 10 10 13 13 9 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758802750 1 112124045 AGACAGAGTCCAGGGAGGCTGCTAAATATCCTTTAATGTACAGCACAGCCCCTCATGACAAAGAATTATCTGGCCATTGCCAACAATGTGGAGGTCAAGAAACCCTATTCTAAAGGAAGAAAAAACAGACCAAGAAT A 377 PASS RAP1A CCDS840.1 r.? - - Del intronic D 112124045 112124183 136 44 698.765 - - 1 1 1 RAP1A|CCDS840.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RAP1A|CCDS840.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 10 0 0 15 11 18 25 3 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758811837 1 158519166 AT A 1169 PASS OR6Y1 CCDS30899.1 r.? - - Del upstream D 158519166 158519168 1 112 1065.39 - - 1 1 1 OR6Y1|CCDS30899.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 OR6Y1|CCDS30899.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 16 9 16 0 0 ./. 13 7 15 8 33 23 33 23 15 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758813827 1 164752965 G GT 300 PASS PBX1 CCDS1246.1 r.? - - Ins intronic I 164752965 164752975 1 12 265.745 - - 9 1 1 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 4 3 34 27 34 27 4 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758819483 1 181505252 AT A 540 PASS CACNA1E ENST00000367573 r.? - - Del intronic D 181505252 181505258 1 18 483.76 - - 5 1 1 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 22 19 22 0 0 ./. 8 1 10 4 29 24 29 24 10 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758819922 1 182954592 G GT 480 PASS - - - - - Ins - I 182954592 182954600 1 21 422.182 - - 7 1 1 - - ./. 0 0 0 0 13 10 14 10 0 0 ./. 6 2 9 3 26 30 27 31 9 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758823189 1 193169888 CGT C 269 PASS CDC73 CCDS1382.1 r.? - - Del intronic D 193169888 193169906 2 10 259.123 - - 8 1 1 CDC73|CCDS1382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC73|CCDS1382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 1 4 1 26 26 26 26 4 1 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758831034 1 215953518 C CT 420 PASS USH2A CCDS31025.1 r.? - - Ins intronic I 215953518 215953527 1 18 371.441 - - 8 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 8 27 8 0 0 ./. 5 2 10 7 39 30 40 30 10 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758834844 1 226977818 TATTAGAAGCATTCAGAAAGCA T 406 PASS - - - - - Del - D 226977818 226977842 21 39 752.516 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 12 2 8 2 30 27 34 27 12 2 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758835212 1 227751424 CG C 2160 PASS ZNF678 CCDS1560.1 r.182delG c.? p.? Del 5'UTR variant D 227751424 227751427 1 360 1929.62 - - 2 1 1 ZNF678|CCDS1560.1|r.182delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ZNF678|ENST00000440339|r.145delG|c.30delG|p.R11fs*12|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 20 17 20 17 0 0 ./. 17 19 24 24 42 45 42 45 24 24 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758846295 10 8105520 CATG C 600 PASS GATA3 CCDS31143.1 r.? - - Del intronic D 8105520 8105529 3 35 537.667 - - 2 1 1 GATA3|CCDS31143.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GATA3|CCDS31143.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 6 5 12 20 31 20 31 5 12 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758850984 10 22019536 AT A 540 PASS MLLT10 CCDS7135.1 r.? - - Del intronic D 22019536 22019541 1 24 484.322 - - 4 1 1 MLLT10|CCDS7135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MLLT10|CCDS7135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 7 2 9 3 16 9 16 9 9 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758850985 10 22020067 TC T 300 PASS MLLT10 CCDS7135.1 r.? - - Del intronic D 22020067 22020070 1 12 268.533 - - 2 1 1 MLLT10|CCDS7135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MLLT10|CCDS7135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 2 3 3 8 10 25 10 25 3 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758855513 10 35367862 A ATTAT 505 PASS CUL2 CCDS7179.1 r.? - - Ins intronic I 35367862 35367863 4 42 566.93 - - 0 1 1 CUL2|CCDS7179.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CUL2|CCDS7179.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 5 9 5 22 15 22 16 9 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758868310 10 80379640 TCTCA T 478 PASS - - - - - Del - D 80379640 80379648 4 30 483.118 - - 1 1 1 - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 5 4 7 8 18 24 18 24 7 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758869267 10 83948679 G GA 300 PASS NRG3 CCDS31233.1 r.? - - Ins intronic I 83948679 83948685 1 12 266.124 - - 5 1 1 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 2 4 4 11 16 11 16 4 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758881795 10 126667056 A AT 420 PASS ZRANB1 CCDS7642.1 r.? - - Ins intronic I 126667056 126667061 1 18 373.417 - - 4 1 1 ZRANB1|CCDS7642.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZRANB1|CCDS7642.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 5 4 8 21 19 21 19 4 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758885852 11 3991437 CT C 780 PASS STIM1 CCDS7749.1 r.? - - Del intronic D 3991437 3991439 1 56 692.962 - - 1 1 1 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 7 8 8 29 23 29 23 8 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758886081 11 4591934 G GATTGC 319 PASS C11orf40 CCDS31354.1 r.? - - Ins downstream I 4591934 4591941 5 42 561.39 - - 1 1 1 C11orf40|CCDS31354.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 C11orf40|CCDS31354.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 20 18 20 19 0 0 ./. 5 6 5 6 31 17 31 18 5 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758888046 11 10645868 TC T 509 PASS MRVI1 CCDS44539.1 r.? - - Del intronic D 10645868 10645871 1 24 480.993 - - 2 1 1 MRVI1|CCDS44539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRVI1|CCDS44539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 7 4 8 17 29 17 29 4 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758896037 11 36672249 TC T 274 PASS C11orf74 CCDS7904.1 r.? - - Del intronic D 36672249 36672256 1 8 378.32 - - 6 1 1 C11orf74|CCDS7904.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C11orf74|CCDS7904.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 7 0 7 1 18 10 18 10 7 1 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758904423 11 66929041 CAT C 3120 PASS KDM2A CCDS44657.1 r.? - - Del intronic D 66929041 66929045 2 728 2797.74 - - 1 1 1 KDM2A|CCDS44657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KDM2A|CCDS44657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 23 19 23 0 0 ./. 27 25 36 32 60 59 60 59 36 32 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758905518 11 69192144 T TGAACGCAGACGCCCGCCCAG 261 PASS - - - - - Ins - I 69192144 69192148 20 24 377.439 - - 0 1 1 - - ./. 0 0 0 0 8 10 8 11 0 0 ./. 7 2 0 0 82 59 83 61 7 2 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758906109 11 70281301 GATCCTCACACTACAGATCAGGCCTTCTTTGGTTCTTGGGTGGTTTTGGGTTTTTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTGAAGGTGGGGAGGGGAATATACACATTGCTTTTATATTTAATACTTTTGCTGATGCTTTTGAAAATGTTTATGCCACAGAATTTGCTAATATATTGTAATCACATTCCTTAGGAGGACTTTGGTAATTGGTTTTATGCATTGATGGTTTTTTTTTTCTTTTTTGCCAAATTGACTGTCACGCGGCAGCTTCAGGGAGCTCGCATTCTCTTGTGTTCGTGTTGCCCTCGTGCCCATCAAGTGCAGTCGGGACCTCCCAGGACAAGCACGAGGCCTCAGGTCGGCCCTGTGGCGGGTAGGCAGGAAGGACTGTCCCAGACGAGGGGCTTCCTCTAGAGTCTCACTGCTGGGGAGGAGAGGACTGGGCCTGATGGAAGTTAACCCGGAGCTAAGTCACCCAGAGCACAGGAGCTGCCATGTCAGATGGGAAATCTGCCTATGTCATACCGTGACAGCCCGCAGGATCAGGTGACTTCTAGCAGAGACCCTGGTTTTTTTCCTGTGCCCACTCCGGCTTGTCCTCATCTCTACCCATCCCCTGATGCCCAGGTCACCGGGAGGGCTGCTGGGAGCCTCTCCTGTCCCCGCCGGGCAGTGTCACTGAGTCCTTGAAATCCTCCCCTGCCCCGCGGGTCTCTGGATTGGGACGCACAGTGCAGTTGAGGTCTGCGTCGGGCTTGGCTTTTCACAAAGGCTGATGTCTTAACTGTCACCCATATGGTCCCTGGGCCACCGGGCAGCCTGGGGCGGTGTGTGTGCCATGTCACAGCATGGCCTCTCGGCCTTGGGAAGGAAGGCAGTGCCTGCTCTGCTGTGAGCCGCCAGGAACCCTCCTCCTGTCAATGGGGGTGTAGTATTTTTGCCAAAATATCATGTTCAATTTCAGTAGTTTGATCAGTTGAAGGCTAGAAGTGTGAAGTGCAGATGAGTGTGTGTTCTTCCCCAAGGTCCCCCCACAGCTCCAGGACACCGCTGTCCTGGCATTTGTGGCCACTCACTTTGTAGGAAACTCATCTCCTTCCTGAGGAGCCGGGAGGCTGGACCAGTCCCGTCGTGCAGTCAGGTGGGCGGTGTGTCTTTCCAGAAGGTCACGTGGAAATGTCTCGGGACTTGGGTCCCGGAGTGCCCGTGAAGCGTGTTTTTGCTCCTGAGGTGCATTTTCTCATCATCCTTGCTTTACCACAATGAGCAATGAGGTCGGGTTTTATATGCAACTTATTGTATCTGAATTCCTGTAGCACACCTCATAGGTATGATTTTTTTAAATTAAAGAATTCAGAATAAACATTTTTTGATCCACTTGCGTGATTTGCTTTGGTCTGTGGTCACTCCGTTCTGCAGTGGAAGCTGCGTCGACACTCTCGGTGTCCTGCGCCCCGGACCTGGGCTGGCGGAGGCTCTCCTGCCGTCCAGTGCGTCTCACGCGTTCTGTTCTGGCTTTAGACCGAACCGTACGTTCCCTTTTCAGTGTTCATTCAAAGGTGCTGCTTATGAACTGAAATGTGTTTACTCTGGCAGATGATTCAGTTTTTTGCACAAAGGTTCCAAGCAAAATAAAACACTCTGTGCTTAAAAGTCATTTCTGAATTACAGTTCTCAAATCCTGAGGGGGATTTTGCTCCCAGTCTCGTTTTGCTCAGGGGCACCAGAAGTTAAAGGCTAAGGGGAACAGTGGCACTGAGGGAGCAGGTGTGCCCTCGGGAGCCGGGGGTGCTGGGGAGCTGGGTTCCGGCTCACACTTCTGCCCATCAGGTGCTCCCAGGGAGCTTTCGGCTACACGACATGCCTGCTACCCCTTCCAACCTGGGTGGTGACGGAGCACTGCCTCCTCCCTTGGGCTGTCCCACACCTGCCTCTGGCTTAGGAAACAGTGCCTCTGCCAGCTCTGCCCACAGGAGCCTAACGTGAGAGTGCCCCCGCCCTCCTGCCACAACCGGGCTGCTGTGGGTTCTGCATCACAGGGTTGCAGCCCTAACGGCGAGCCCCGTCCCACACAGGGCCTGTCTGCTGGGTGAGATTGCAGCCACCTGCAGGGAGCTGAGTCCTGAAGAAATGAGGCATGAAGGCTTGTGAACCAGGGGAAAGTCCCAGCCAGGGTGGGCAGACGGGGTCAGGGGGCTGGAGGACAGGGTGTGACGAAGGGAGGGGGCCATGCAGAAAGGGCCCCCGCTGGCCCACTGTCTGCCCAGTCGGTGTGTGCCTGTGCCGCCTGCGGATGAGCATGGCAGGGGCTCAACAGGAGCGGGACACATCTTGAGTGGGTCTGTGTTTCTGTTCTATTGGTGGCCAAGCGTGGCCTGGCAGCTTGAGTGCCTGGAGCCAACCACCTGAATCTTAGCCGCTTTCTTTTTAGATGTGGTTGGGGTTTTTTGTTTCTGTTTCTTGAGAAAGGGTCTTGCTCTTTCGCCCAGGCTGGAGT G 493 PASS CTTN CCDS41680.1 r.1855_3234del1380 c.? p.? Del protein_coding:three_prime_UTR:exon:deletion:5KB_downstream_variant:500B_downstream_variant:3_prime_UTR_variant:transcript_variant D 70281301 70283803 2500 84 906.737 - - 1 1 - CTTN|CCDS41680.1|r.1855_3234del1380|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:5KB_downstream_variant:500B_downstream_variant:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001633:SO:0001634:SO:0001624:SO:0001576 CTTN|ENST00000376561|r.1705+77_2111del1213|c.1499+77_1905del1213|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:5KB_downstream_variant:500B_downstream_variant:complex_change_in_transcript:transcript_variant:stop_lost|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001633:SO:0001634:SO:0001577:SO:0001576:SO:0001578 ./. 0 0 0 0 4 12 4 12 0 0 ./. 6 11 0 0 25 59 31 70 6 11 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758907459 11 73036595 ACT A 329 PASS ARHGEF17 CCDS8221.1 r.? - - Del intronic D 73036595 73036613 2 15 324.275 - - 8 1 1 ARHGEF17|CCDS8221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGEF17|CCDS8221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 2 6 4 79 65 79 65 6 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758909028 11 76550097 ATCCTTAATAT A 443 PASS - - - - - Del - D 76550097 76550111 10 30 805.268 - - 1 1 1 - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 14 1 0 0 60 39 60 40 14 1 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758912996 11 90526913 TTTTG T 569 PASS - - - - - Del - D 90526913 90526929 4 35 536.243 - - 3 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 6 4 9 7 15 7 15 4 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758919435 11 119563580 CTGGGGAAAAGA C 348 PASS PVRL1 CCDS8426.1 r.? - - Del intronic D 119563580 119563592 11 40 647.345 - - 1 1 1 PVRL1|CCDS8426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PVRL1|CCDS8426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 9 4 10 9 16 9 16 4 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758923186 12 1934153 AG A 840 PASS CACNA2D4 CCDS44785.1 r.? - - Del intronic D 1934153 1934157 1 63 755.683 - - 3 1 1 CACNA2D4|CCDS44785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA2D4|CCDS44785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 6 8 8 8 21 24 21 24 8 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758925338 12 8330217 GC G 411 PASS ZNF705A CCDS31737.1 r.1014delC c.? p.? Del 3'UTR variant D 8330217 8330220 1 16 431.303 - - 2 1 1 ZNF705A|CCDS31737.1|r.1014delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ZNF705A|CCDS31737.1|r.1014delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 16 14 16 14 0 0 ./. 7 1 8 3 16 16 16 16 8 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758936005 12 44782996 AT A 660 PASS TMEM117 CCDS8745.1 r.2214delU c.? p.? Del 3'UTR variant D 44782996 44783002 1 42 594.697 - - 5 1 1 TMEM117|CCDS8745.1|r.2214delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TMEM117|CCDS8745.1|r.2214delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 6 6 11 18 24 18 24 6 11 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758936987 12 48890305 TTGTC T 387 PASS C12orf54 CCDS8764.1 r.? - - Del downstream D 48890305 48890312 4 24 427.089 - - 1 1 1 C12orf54|CCDS8764.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 C12orf54|CCDS8764.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 5 3 7 13 26 13 26 3 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758945181 12 78278873 ACTTG A 449 PASS NAV3 CCDS41815.1 r.? - - Del intronic D 78278873 78278881 4 21 432.507 - - 1 1 1 NAV3|CCDS41815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAV3|CCDS41815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 6 2 9 20 24 20 24 2 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758945282 12 78606080 ACTT A 985 PASS NAV3 CCDS41815.1 r.9049_9051delCUU c.? p.? Del 3'UTR variant D 78606080 78606089 3 110 1025.4 - - 2 1 1 NAV3|CCDS41815.1|r.9049_9051delCUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 NAV3|CCDS41815.1|r.9049_9051delCUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 17 15 17 0 0 ./. 9 10 10 11 17 30 17 30 10 11 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758946525 12 84258424 ATG A 300 PASS - - - - - Del - D 84258424 84258440 2 12 270.317 - - 7 1 - - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 3 2 3 2 21 23 21 23 3 2 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758953032 12 106344673 C CT 600 PASS - - - - - Ins - I 106344673 106344677 1 32 534.613 - - 3 1 1 - - ./. 0 0 0 0 20 16 21 16 0 0 ./. 3 7 6 10 23 23 23 23 6 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758956632 12 118558808 TGGGGC T 749 PASS - - - - - Del - D 118558808 118558818 5 54 702.222 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 8 8 10 28 20 28 20 8 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758958956 12 124811877 AGAGGAGCGCG A 348 PASS NCOR2 CCDS41858.1 r.? - - Del intronic D 124811877 124811896 10 33 637.924 - - 1 1 1 NCOR2|CCDS41858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCOR2|CCDS41858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 10 2 16 3 24 13 24 13 16 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758968096 13 37027724 A AT 540 PASS - - - - - Ins - I 37027724 37027733 1 28 480.497 - - 8 1 1 - - ./. 0 0 0 0 17 13 17 14 0 0 ./. 6 3 9 7 25 26 25 26 9 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758970784 13 45575630 C CG 720 PASS KIAA1704 CCDS9394.1 r.? - - Ins intronic I 45575630 45575631 1 49 640.663 - - 0 1 1 KIAA1704|CCDS9394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA1704|CCDS9394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 16 23 16 0 0 ./. 6 6 10 8 22 22 22 22 10 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758979965 13 76051956 TTTCCCAG T 261 PASS TBC1D4 CCDS41901.1 r.? - - Del intronic D 76051956 76051967 7 24 485.314 - - 1 1 1 TBC1D4|CCDS41901.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D4|CCDS41901.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 7 0 0 21 21 21 21 2 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758988246 13 104756412 GT G 600 PASS - - - - - Del - D 104756412 104756422 1 35 541.312 - - 9 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 6 4 9 9 28 23 28 23 9 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758989537 13 108678283 T TA 420 PASS - - - - - Ins - I 108678283 108678292 1 14 375.125 - - 8 1 1 - - ./. 0 0 0 0 27 20 27 20 0 0 ./. 6 1 9 4 20 16 20 16 9 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758992317 14 21423124 AAATT A 475 PASS RNASE2 CCDS9561.1 r.? - - Del upstream D 21423124 21423132 4 45 649.063 - - 1 1 1 RNASE2|CCDS9561.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 RNASE2|CCDS9561.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 21 14 21 0 0 ./. 8 4 8 4 35 33 35 33 8 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758994841 14 27757956 G GC 1440 PASS - - - - - Ins - I 27757956 27757964 1 160 1274.65 - - 7 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 9 15 13 18 33 42 33 44 13 18 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758995067 14 28303552 ATAGTTAAATATACATATAATGCACATTCCAATTTTTT A 364 PASS - - - - - Del - D 28303552 28303592 37 99 973.896 - - 1 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 8 10 3 4 17 24 22 30 8 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2758997769 14 35748043 C CT 420 PASS KIAA0391 CCDS32063.1 r.? - - Ins downstream I 35748043 35748052 1 18 374.757 - - 8 1 1 KIAA0391|CCDS32063.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 KIAA0391|CCDS32063.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 26 19 26 19 0 0 ./. 2 5 4 5 28 31 28 31 4 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759005234 14 57810899 CA C 1323 PASS - - - - - Del - D 57810899 57810906 1 136 1240.98 - - 6 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 7 16 8 18 15 32 15 32 8 18 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759015674 14 86926949 AACAT A 747 PASS - - - - - Del - D 86926949 86926959 4 64 757.943 - - 2 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 7 7 12 7 37 31 37 32 12 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759022419 14 106089328 G GGGGGACAGCGTCAGGGACAGGTGGGGACAGCCT 318 PASS - - - - - Ins - I 106089328 106089337 33 27 340.902 - - 0 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 8 2 0 0 66 25 71 27 8 2 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759024221 15 22363433 CT C 600 PASS - - - - - Del - D 22363433 22363441 1 35 542.468 - - 7 1 1 - - ./. 0 0 0 0 14 34 14 34 0 0 ./. 6 4 9 6 36 43 36 43 9 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759030524 15 42144978 GC G 300 PASS MAPKBP1 CCDS45239.1 r.? - - Del intronic D 42144978 42144982 1 12 255.58 - - 3 1 1 MAPKBP1|CCDS45239.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 MAPKBP1|CCDS45239.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 3 2 3 2 25 26 25 26 3 2 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759034729 15 56544402 GT G 780 PASS - - - - - Del - D 56544402 56544406 1 56 705.208 - - 3 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 6 7 9 9 24 29 24 29 9 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759045409 15 91316036 TA T 540 PASS BLM CCDS10363.1 r.? - - Del intronic D 91316036 91316041 1 30 488.221 - - 4 1 1 BLM|CCDS10363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BLM|CCDS10363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 5 6 9 13 24 13 24 6 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759047286 15 97407219 GAATA G 718 PASS - - - - - Del - D 97407219 97407230 4 54 705.208 - - 2 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 8 5 9 5 21 18 21 18 9 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759049889 16 2594460 GA G 569 PASS PDPK1 CCDS10472.1 r.? - - Del intronic D 2594460 2594466 1 27 541.871 - - 5 1 1 PDPK1|CCDS10472.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDPK1|CCDS10472.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 2 8 5 11 16 22 16 22 5 11 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759061127 16 33889397 ATTCGATGATGATTCCT A 319 PASS - - - - - Del - D 33889397 33889429 16 40 593.65 - - 1 1 1 - - ./. 0 0 0 0 24 11 24 11 0 0 ./. 4 7 3 6 23 23 24 24 4 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759064582 16 54401732 AGTTTGTTG AC 377 PASS ENSG00000227093 ENST00000449142 r.? - - Complex intronic DI 54401733 54401740 8 54 0 - - 0 1 1 ENSG00000227093|ENST00000449142|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ENSG00000227093|ENST00000449142|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 8 0 0 23 18 23 18 5 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759066421 16 60414439 TG T 629 PASS - - - - - Del - D 60414439 60414446 1 36 593.65 - - 6 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 8 3 8 4 26 13 26 13 8 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759066492 16 60596137 CATCTTCACTGAAT C 319 PASS - - - - - Del - D 60596137 60596153 13 22 596.058 - - 1 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 10 1 12 1 21 1 21 1 12 1 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759068213 16 66749471 C CA 660 PASS - - - - - Ins - I 66749471 66749479 1 40 589.435 - - 7 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 7 5 8 14 22 14 23 5 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759082320 17 21796853 A AT 1018 PASS AC138761.1 ENST00000507397 r.? - - Ins upstream I 21796853 21796856 1 100 963.911 - - 2 1 1 AC138761.1|ENST00000507397|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 AC138761.1|ENST00000507397|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 17 17 17 17 0 0 ./. 9 9 13 14 56 54 56 55 13 14 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759083956 17 29396814 C CA 840 PASS - - - - - Ins - I 29396814 29396823 1 64 745.828 - - 8 1 1 - - ./. 0 0 0 0 21 25 21 25 0 0 ./. 7 7 10 8 24 32 24 32 10 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759084523 17 31115072 CGT C 300 PASS MYO1D CCDS32615.1 r.? - - Del intronic D 31115072 31115091 2 12 271.098 - - 9 1 1 MYO1D|CCDS32615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO1D|CCDS32615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 2 3 18 32 18 32 2 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759086175 17 36481400 CCAGTTGCCTTGACAAAAGAGAGAGGTCCTGTTGATGG C 261 PASS GPR179 CCDS42308.1 r.? - - Del downstream D 36481400 36481441 37 30 484.966 - - 1 1 1 GPR179|CCDS42308.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 GPR179|CCDS42308.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 5 2 3 15 14 17 16 4 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759088399 17 42512616 C CA 720 PASS GPATCH8 CCDS32666.1 r.? - - Ins intronic I 42512616 42512626 1 49 641.002 - - 9 1 1 GPATCH8|CCDS32666.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPATCH8|CCDS32666.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 15 5 15 0 0 ./. 6 6 8 8 22 22 22 22 8 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759092383 17 53590618 G GA 780 PASS - - - - - Ins - I 53590618 53590626 1 50 697.027 - - 7 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 9 7 14 22 24 22 24 7 14 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759094531 17 60724477 CT C 780 PASS MRC2 CCDS11634.1 r.? - - Del intronic D 60724477 60724481 1 50 704.252 - - 3 1 1 MRC2|CCDS11634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRC2|CCDS11634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 4 9 5 13 16 26 16 26 5 13 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759098276 17 72529825 GA G 478 PASS CD300LB CCDS11700.1 r.? - - Del upstream D 72529825 72529831 1 24 487.374 - - 5 1 1 CD300LB|CCDS11700.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CD300LB|CCDS11700.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 14 10 16 0 0 ./. 7 2 11 6 22 17 24 18 11 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759106690 18 21694231 T TGAGCTGAGCCCTTAACACCTGAGCAAAGGAGAGAACGCTGGAGGAGAAGGCGGGTGC 300 PASS TTC39C CCDS45839.1 r.? - - Ins intronic I 21694231 21694285 57 12 98.9358 - - 0 1 1 TTC39C|CCDS45839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC39C|CCDS45839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 2 3 0 0 38 45 39 45 2 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759107941 18 26507818 CT C 1680 PASS - - - - - Del - D 26507818 26507821 1 224 1517.1 - - 2 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 13 15 16 24 20 31 20 31 16 24 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759108389 18 28306537 TATACATTCATGCTTTGTTCTA T 261 PASS - - - - - Del - D 28306537 28306560 21 28 488.025 - - 1 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 6 3 6 3 18 25 18 25 6 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759111177 18 39267239 CAGA C 1852 PASS - - - - - Del - D 39267239 39267244 3 336 1895.47 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 20 15 26 18 29 26 29 26 26 18 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759111407 18 40047164 AACTC A 2874 PASS - - - - - Del - D 40047164 40047175 4 690 2765.47 - - 2 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 29 22 36 25 41 33 41 33 36 25 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759134435 19 32793827 AAT A 420 PASS - - - - - Del - D 32793827 32793834 2 18 379.699 - - 3 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 5 2 7 11 26 11 26 2 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759137195 19 37977952 CAGTT C 2121 PASS ZNF570 CCDS12504.1 r.? - - Del downstream D 37977952 37977959 4 440 2148.04 - - 1 1 1 ZNF570|CCDS12504.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF570|CCDS12504.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 8 11 8 0 0 ./. 19 21 21 26 28 31 28 31 21 26 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759137727 19 38985484 CA C 300 PASS RYR1 CCDS33011.1 r.? - - Del intronic D 38985484 38985486 1 6 260.377 - - 1 1 1 RYR1|CCDS33011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR1|CCDS33011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 0 5 0 10 19 57 19 57 0 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759143823 19 57792203 AGGTGAGTGGACGAGGTTTCGGCCTTGCTGCTGCTGTGCTATTTCTAGAGGCCTCGTGGGCAGGCTGGAAGCCAAGACAGCCACAGGATTTTTCTTTGTCGCCATCGTTTATTTAAGAGAAATGGCCGTGGCTTGTCATTTCCTTTATCCGCAGTCCTGCAACAGTGTTGGCCTCTGATAGGTGTTCAGTCCGTGGTTGAAGGAGTGATGCTTCCTTCTAGGGATCTCATCACACTTCCCCTAAATCCAACCTTCTCTGTTGCCTGCCAGCCCGTACCCCATCCACCTGGCCAACCACCCCTGACCTTGTCTGTTTGCATTTTTCCCTGGTCCTTTGCTCTTCAGAGCCACCAACCTGACCGTGCAGTCCTCTTCCATTTTCCAGGCTTTCTCCTTGCACTTCCTTTTACTTCGAACACTGCCCCTGTAACTTTGCAGGGCCTCCCTTTCACATCCTTTTGGCATCTGTCCAGGTGTCACCTATTTGGAGGTGCCTTTTTTGGCAATTCCGGCTAAAGTGGCACCTTACACCCTTGCCCAGAGTCTGGTATTTTTGTGTAGATAATCTGATGGTATTAAAGAAGCTTGTGGATTTGAGTTTGTCAAGGATGTAATGGGAACAAAGAAAAATAATTGCAAAGAATGATATTAACTGTCATTGAGTCCTTGCTGTGGGCTGATCGGTGAGTATTATTTAACCCTCAGTTCGTTTAACCCTGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGTTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGACCTCGGCTCACTGCAACCTCCGCCTTTTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCGTGTTGGCCACGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTGGGTCTCCCAAAGTGCTGGGATTACTCTTTAGAATTAGGTTCTGTTGTCATCATTGTTTTACACAAGAGCAATTTGAGGGTCACATACGTCCAATTACCTGCCTTACATCACTGTAGCTCTTAAGTTTCTTAAGTCAGAAACTAACAACTGGTGTGTCTAACATCATAGCCTGTGTTTTTACCCTCTTCTTTACCCGCAGTGGTTAGGGAGGCCTGGGGGTGAGACCTAAAGTAACCTTTGCAAGATGAGGCCTCCTTCTAGCCAGTGATCTTGGGCATGAGGAGTCATGGCCTTTCATACTG A 348 PASS ZNF460 CCDS12949.1 r.352_352+1283del1284 c.30_30+1283del1284 p.? Del ess splice D 57792203 57793489 1284 40 650.311 - - 1 1 - ZNF460|CCDS12949.1|r.352_352+1283del1284|c.30_30+1283del1284|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ZNF460|CCDS12949.1|r.352_352+1283del1284|c.30_30+1283del1284|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 11 13 11 13 0 0 ./. 9 3 0 0 29 24 38 27 9 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759143824 19 57793842 CCT C 1523 PASS ZNF460 CCDS12949.1 r.? - - Del intronic D 57793842 57793845 2 198 1569.43 - - 1 1 1 ZNF460|CCDS12949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF460|CCDS12949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 21 8 24 10 71 42 71 42 24 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759144508 2 724153 GTCTT G 929 PASS - - - - - Del - D 724153 724160 4 77 861.257 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 6 10 9 13 22 36 22 36 9 13 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759149229 2 16620474 CT C 900 PASS - - - - - Del - D 16620474 16620476 1 60 806.789 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 11 6 15 15 33 15 33 6 15 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759149405 2 17517797 T TA 385 PASS - - - - - Ins - I 17517797 17517807 1 20 372.849 - - 9 1 1 - - ./. 0 0 0 0 14 26 14 26 0 0 ./. 4 3 6 7 21 19 22 20 6 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759151341 2 24611097 ACT A 1078 PASS - - - - - Del - D 24611097 24611103 2 90 1023.46 - - 2 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 5 14 9 17 30 30 30 30 9 17 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759163066 2 64973215 TGAAA T 329 PASS - - - - - Del - D 64973215 64973230 4 15 323.197 - - 3 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 2 4 4 16 15 16 15 4 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759164311 2 69097380 C CA 420 PASS BMP10 CCDS1890.1 r.? - - Ins intronic I 69097380 69097387 1 20 372.849 - - 6 1 - BMP10|CCDS1890.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BMP10|CCDS1890.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 19 18 19 0 0 ./. 4 3 7 8 27 24 27 24 7 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759167222 2 80841173 AAAG A 449 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 80841173 80841182 3 24 430.929 - - 2 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 5 4 9 14 26 14 26 4 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759172821 2 104266906 TA T 1101 PASS - - - - - Del - D 104266906 104266911 1 144 1238.92 - - 4 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 8 15 13 19 28 30 28 30 13 19 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759174922 2 113048861 AGTGCAGT A 331 PASS ZC3H6 CCDS46393.1 r.? - - Del intronic D 113048861 113048870 7 49 637.965 - - 1 1 1 ZC3H6|CCDS46393.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZC3H6|CCDS46393.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 27 27 27 0 0 ./. 6 6 6 5 29 31 29 33 6 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759176155 2 118441070 ATTC A 929 PASS - - - - - Del - D 118441070 118441078 3 65 859.451 - - 2 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 12 4 14 7 17 10 17 10 14 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759185458 2 161971383 TA T 600 PASS - - - - - Del - D 161971383 161971385 1 20 538.662 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 9 1 17 6 20 9 20 9 17 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759203440 20 3801625 CT C 929 PASS C20orf29 CCDS13070.1 r.? - - Del intronic D 3801625 3801629 1 81 866.301 - - 3 1 1 C20orf29|CCDS13070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C20orf29|CCDS13070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 8 8 8 15 21 29 21 29 8 15 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759208177 20 20044482 TG T 720 PASS C20orf26 CCDS33447.1 r.? - - Del intronic D 20044482 20044484 1 48 651.984 - - 1 1 1 C20orf26|CCDS33447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C20orf26|CCDS33447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 7 5 8 5 17 17 17 17 8 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759209400 20 25300879 GGAAGCCAA G 319 PASS ABHD12 CCDS13172.1 r.770_777delUUGGCUUC c.490_497delTTGGCTTC p.L164fs*38 Del frameshift D 25300879 25300889 8 42 592.835 - - 1 1 1 ABHD12|CCDS13172.1|r.770_777delUUGGCUUC|c.490_497delTTGGCTTC|p.L164fs*38|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ABHD12|CCDS13172.1|r.770_777delUUGGCUUC|c.490_497delTTGGCTTC|p.L164fs*38|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 6 6 6 17 23 17 23 6 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759212926 20 35363667 CT C 637 PASS NDRG3 CCDS13285.1 r.? - - Del intronic D 35363667 35363673 1 42 597.652 - - 5 1 1 NDRG3|CCDS13285.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NDRG3|CCDS13285.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 5 6 8 10 23 30 23 30 8 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759215770 20 45465951 AGT A 300 PASS - - - - - Del - D 45465951 45465969 2 12 271.058 - - 8 1 - - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 2 3 2 35 40 35 40 3 2 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759222085 20 62490372 TGG T 300 PASS C20orf135 CCDS13539.1 r.? - - Del upstream D 62490372 62490376 2 10 271.66 - - 3 1 1 C20orf135|CCDS13539.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TPD52L2|ENST00000369927|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 1 5 2 33 29 33 29 5 2 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759226228 21 15789863 AG A 900 PASS - - - - - Del - D 15789863 15789867 1 72 808.267 - - 3 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 8 7 10 11 19 25 19 25 10 11 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759229187 21 25145299 CATT C 1016 PASS - - - - - Del - D 25145299 25145307 3 98 1033.12 - - 2 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 13 8 16 22 32 22 32 8 16 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759246170 3 2303707 A AT 660 PASS CNTN4 CCDS43041.1 r.? - - Ins intronic I 2303707 2303717 1 36 585.215 - - 9 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 8 6 9 21 28 21 28 6 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759250177 3 14297167 GGT G 300 PASS - - - - - Del - D 14297167 14297180 2 10 269.565 - - 6 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 4 1 4 21 25 21 25 1 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759254775 3 32290757 C CA 540 PASS CMTM8 CCDS2652.1 r.? - - Ins intronic I 32290757 32290764 1 24 478.594 - - 6 1 1 CMTM8|CCDS2652.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CMTM8|CCDS2652.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 7 2 10 5 31 15 31 15 10 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759258086 3 45348439 TC T 360 PASS - - - - - Del - D 45348439 45348449 1 12 316.855 - - 9 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 1 5 1 10 18 28 18 28 1 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759260748 3 54385328 A AT 327 PASS CACNA2D3 ENST00000474759 r.? - - Ins intronic I 54385328 54385334 1 20 371.972 - - 5 1 1 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 4 10 5 27 19 27 19 10 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759264750 3 67916713 TGG T 956 PASS - - - - - Del - D 67916713 67916716 2 96 967.422 - - 2 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 7 11 10 16 27 35 27 35 10 16 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759275216 3 106490995 AAATT A 418 PASS - - - - - Del - D 106490995 106491004 4 21 430.701 - - 2 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 2 6 4 7 14 17 14 17 4 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759277078 3 112647593 ATCT A 449 PASS CD200R1 CCDS2970.1 r.? - - Del intronic D 112647593 112647598 3 24 431.303 - - 1 1 1 CD200R1|CCDS2970.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD200R1|CCDS2970.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 5 3 5 3 21 16 21 16 5 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759279348 3 120573281 C CA 600 PASS - - - - - Ins - I 120573281 120573282 1 36 533.109 - - 0 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 5 5 7 17 28 17 28 5 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759280544 3 124958642 CCAACTATAAAAATGGAATGG C 290 PASS ZNF148 CCDS3031.1 r.? - - Del intronic D 124958642 124958663 20 11 539.129 - - 1 1 1 ZNF148|CCDS3031.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF148|CCDS3031.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 23 17 23 0 0 ./. 0 10 1 6 16 19 16 22 1 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759285446 3 142723754 GGAGA G 476 PASS SR140 CCDS46928.1 r.? - - Del intronic D 142723754 142723768 4 35 539.129 - - 6 1 1 SR140|CCDS46928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SR140|CCDS46928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 4 6 5 9 7 23 7 23 5 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759286679 3 147013101 A AT 300 PASS - - - - - Ins - I 147013101 147013106 1 10 266.554 - - 4 1 1 - - ./. 0 0 0 0 24 17 24 17 0 0 ./. 4 1 4 1 17 6 18 6 4 1 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759289196 3 156196132 AC A 660 PASS KCNAB1 CCDS33882.1 r.? - - Del intronic D 156196132 156196136 1 36 593.042 - - 3 1 1 KCNAB1|CCDS33882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNAB1|CCDS33882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 8 3 11 6 28 13 28 13 11 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759290453 3 161279531 A AG 720 PASS - - - - - Ins - I 161279531 161279535 1 33 639.73 - - 3 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 10 2 13 3 32 19 33 19 13 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759292351 3 167962052 A AT 300 PASS - - - - - Ins - I 167962052 167962059 1 10 266.554 - - 6 1 1 - - ./. 0 0 0 0 14 24 14 25 0 0 ./. 1 4 3 6 15 12 16 12 3 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759298349 3 189474231 TAA T 480 PASS TP63 CCDS3293.1 r.? - - Del intronic D 189474231 189474235 2 25 430.701 - - 3 1 1 TP63|CCDS3293.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TP63|CCDS3293.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 4 7 4 20 14 20 14 7 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759302235 4 4768384 CT C 600 PASS - - - - - Del - D 4768384 4768388 1 35 539.198 - - 3 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 6 4 11 10 20 12 20 12 11 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759307269 4 28709642 T TC 780 PASS - - - - - Ins - I 28709642 28709645 1 56 692.709 - - 2 1 1 - - ./. 0 0 0 0 14 14 14 15 0 0 ./. 6 7 8 11 11 15 11 15 8 11 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759308628 4 36269814 ATAGT A 1177 PASS - - - - - Del - D 36269814 36269822 4 105 1079.6 - - 1 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 14 6 19 7 23 13 23 13 19 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759312986 4 56185317 A AG 420 PASS - - - - - Ins - I 56185317 56185322 1 18 373.044 - - 4 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 5 4 5 13 17 13 17 4 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759321750 4 95583711 ATT A 960 PASS PDLIM5 CCDS3641.1 r.? - - Del intronic D 95583711 95583714 2 77 863.68 - - 2 1 1 PDLIM5|CCDS3641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDLIM5|CCDS3641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 10 6 12 9 14 10 14 10 12 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759322158 4 97778926 A AT 600 PASS - - - - - Ins - I 97778926 97778933 1 35 531.371 - - 6 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 6 5 7 7 10 7 10 5 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759325915 4 118242022 GTGA G 784 PASS - - - - - Del - D 118242022 118242033 3 70 802.475 - - 3 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 6 9 9 11 23 20 23 20 9 11 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759335440 4 159965644 T TA 480 PASS - - - - - Ins - I 159965644 159965654 1 24 426.422 - - 9 1 1 - - ./. 0 0 0 0 6 19 6 19 0 0 ./. 5 3 8 7 30 18 30 19 8 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759342810 4 186101534 CCATT CG 658 PASS KIAA1430 CCDS47168.1 r.? - - Complex intronic DI 186101535 186101538 4 24 0 - - 0 1 1 KIAA1430|CCDS47168.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 KIAA1430|CCDS47168.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 11 1 0 0 16 5 16 5 11 1 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759348070 5 9160345 TTGTC T 896 PASS SEMA5A CCDS3875.1 r.? - - Del intronic D 9160345 9160354 4 78 917.545 - - 2 1 1 SEMA5A|CCDS3875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEMA5A|CCDS3875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 12 7 14 18 27 18 27 7 14 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759354497 5 29980065 AG A 300 PASS - - - - - Del - D 29980065 29980067 1 12 269.264 - - 1 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 2 3 3 4 20 18 20 18 3 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759361914 5 58199763 CA C 600 PASS - - - - - Del - D 58199763 58199773 1 35 539.732 - - 9 1 - - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 4 10 8 20 17 20 17 10 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759362773 5 61726633 TA T 360 PASS IPO11 CCDS34167.1 r.? - - Del intronic D 61726633 61726635 1 15 323.839 - - 1 1 1 IPO11|CCDS34167.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IPO11|CCDS34167.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 4 4 4 18 5 18 5 4 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759363990 5 66219400 G GT 869 PASS MAST4 CCDS47225.1 r.? - - Ins intronic I 66219400 66219408 1 72 799.363 - - 7 1 1 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 16 15 0 0 ./. 8 7 10 12 29 22 29 22 10 12 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759367277 5 79309650 CGTTCTTGGCATAG C 464 PASS - - - - - Del - D 79309650 79309665 13 72 863.571 - - 1 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 5 11 5 10 21 25 21 26 5 11 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759395696 6 5461199 CTG C 540 PASS FARS2 CCDS4494.1 r.? - - Del intronic D 5461199 5461219 2 28 486.198 - - 9 1 - FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 21 21 21 0 0 ./. 3 6 3 7 26 35 26 35 3 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759399222 6 15264474 CTGA C 896 PASS JARID2 CCDS4533.1 r.? - - Del intronic D 15264474 15264482 3 88 915.966 - - 2 1 1 JARID2|CCDS4533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JARID2|CCDS4533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 7 10 8 11 19 23 19 23 8 11 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759400924 6 20373461 G GT 600 PASS - - - - - Ins - I 20373461 20373468 1 32 534.199 - - 6 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 7 6 11 19 30 19 30 6 11 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759414629 6 63229681 A AT 660 PASS - - - - - Ins - I 63229681 63229685 1 40 587.619 - - 3 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 7 5 8 13 16 13 16 5 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759429327 6 141077280 T TA 600 PASS - - - - - Ins - I 141077280 141077289 1 36 534.199 - - 8 1 1 - - ./. 0 0 0 0 24 19 24 19 0 0 ./. 5 5 6 6 14 14 14 15 6 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759437112 7 3606366 A AG 269 PASS SDK1 CCDS34590.1 r.? - - Ins intronic I 3606366 3606367 1 12 253.441 - - 0 1 1 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 2 3 2 38 21 38 24 3 2 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759442903 7 19188613 G GA 300 PASS FERD3L CCDS5368.1 r.? - - Ins upstream I 19188613 19188623 1 12 256.451 - - 9 1 1 FERD3L|CCDS5368.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 FERD3L|CCDS5368.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 20 13 20 0 0 ./. 2 3 2 2 41 22 41 22 2 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759443228 7 20206155 TTTCTCCCAG T 435 PASS MACC1 CCDS5369.1 r.? - - Del intronic D 20206155 20206167 9 72 809.09 - - 1 1 1 MACC1|CCDS5369.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MACC1|CCDS5369.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 8 7 9 8 31 27 31 27 9 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759443378 7 20624572 AAC A 300 PASS - - - - - Del - D 20624572 20624588 2 12 269.094 - - 7 1 - - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 4 2 38 33 38 33 4 2 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759446369 7 28390180 G GA 300 PASS CREB5 CCDS43562.1 r.? - - Ins intronic I 28390180 28390190 1 10 266.084 - - 9 1 - CREB5|CCDS43562.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CREB5|CCDS43562.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 17 0 0 ./. 1 4 1 4 31 52 31 52 1 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759448408 7 34256534 TGA T 300 PASS - - - - - Del - D 34256534 34256553 2 12 265.482 - - 9 1 - - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 2 3 2 3 39 54 39 54 2 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759454880 7 53498607 C CAT 358 PASS - - - - - Ins - I 53498607 53498613 2 18 369.146 - - 2 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 2 5 6 7 35 33 35 35 6 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759465094 7 79353301 AG A 660 PASS - - - - - Del - D 79353301 79353305 1 40 590.924 - - 3 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 7 4 7 9 19 24 19 24 7 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759467777 7 89182650 G GA 1080 PASS - - - - - Ins - I 89182650 89182659 1 99 960.07 - - 8 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 10 8 18 15 35 24 35 24 18 15 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759472009 7 104748058 C CAGTT 509 PASS MLL5 CCDS34723.1 r.3699_3700insaguu c.3154_3155insAGTT p.D1054fs*20 Ins frameshift I 104748058 104748060 4 28 463.78 - - 0 1 1 MLL5|CCDS34723.1|r.3699_3700insaguu|c.3154_3155insAGTT|p.D1054fs*20|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 MLL5|CCDS34723.1|r.3699_3700insaguu|c.3154_3155insAGTT|p.D1054fs*20|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 25 16 25 16 0 0 ./. 6 3 6 4 11 8 11 8 6 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759477236 7 130590148 CG C 720 PASS - - - - - Del - D 130590148 130590151 1 45 647.272 - - 2 1 1 - - ./. 0 0 0 0 25 25 25 25 0 0 ./. 8 4 8 6 10 11 10 11 8 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759481864 7 151538510 AGGGATGGTAGTGATAGTAGGTAGGGATGGTAGTGATAGTAGTGATGGTAGGTAATGATGATGGTAGTGATGGTAGGTT A 389 PASS PRKAG2 CCDS43683.1 r.? - - Del intronic D 151538510 151538603 78 18 369.146 - - 1 1 - PRKAG2|CCDS43683.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PRKAG2|CCDS43683.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 11 20 11 0 0 ./. 2 5 0 0 25 10 25 10 2 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759496604 8 55002052 T TG 480 PASS LYPLA1 CCDS6157.1 r.? - - Ins intronic I 55002052 55002062 1 9 418.971 - - 9 1 1 LYPLA1|CCDS6157.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LYPLA1|CCDS6157.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 23 16 23 0 0 ./. 8 0 12 3 18 12 18 12 12 3 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759496874 8 56296067 TA T 660 PASS XKR4 CCDS34893.1 r.? - - Del intronic D 56296067 56296069 1 42 593.319 - - 1 1 1 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 6 7 6 9 6 9 6 7 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759498340 8 65183314 G GA 840 PASS - - - - - Ins - I 65183314 65183323 1 63 749.003 - - 8 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 6 8 9 9 13 13 13 13 9 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759507691 8 106791968 CTTAA C 658 PASS ZFPM2 CCDS47908.1 r.? - - Del intronic D 106791968 106791976 4 45 649.228 - - 1 1 1 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 8 5 10 18 23 18 23 5 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759508409 8 110044297 TAAAG T 627 PASS - - - - - Del - D 110044297 110044305 4 45 645.013 - - 1 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 8 4 9 7 26 17 26 17 9 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759520237 9 10767794 GT G 480 PASS - - - - - Del - D 10767794 10767798 1 24 433.809 - - 3 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 5 6 8 8 10 8 10 6 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759520327 9 11251947 G GA 480 PASS - - - - - Ins - I 11251947 11251954 1 21 428.992 - - 6 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 2 6 2 8 4 8 4 8 2 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759521128 9 15117572 GC G 900 PASS - - - - - Del - D 15117572 15117577 1 70 813.392 - - 4 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 9 6 12 9 15 10 15 10 12 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759522932 9 24445600 A AT 480 PASS - - - - - Ins - I 24445600 24445609 1 25 427.186 - - 8 1 1 - - ./. 0 0 0 0 7 18 7 19 0 0 ./. 4 4 6 5 7 11 7 11 6 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759535776 9 106587565 G GT 300 PASS - - - - - Ins - I 106587565 106587573 1 12 268.12 - - 7 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 3 2 4 6 5 6 5 2 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759545574 X 13489742 G GA 480 PASS - - - - - Ins - I 13489742 13489749 1 24 428.432 - - 6 1 1 - - ./. 0 0 0 0 15 15 16 15 0 0 ./. 5 3 9 6 31 34 32 34 9 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759547310 X 22346680 CTCTT C 292 PASS - - - - - Del - D 22346680 22346685 4 10 487.405 - - 1 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 0 9 4 12 14 26 14 28 4 14 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759550128 X 35490022 AGT A 300 PASS - - - - - Del - D 35490022 35490039 2 12 270.78 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 2 4 2 22 25 22 25 4 2 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759552847 X 49012633 AC A 780 PASS - - - - - Del - D 49012633 49012639 1 56 704.029 - - 5 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 7 6 8 14 21 30 21 30 8 14 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759554968 X 66983094 A AT 472 PASS - - - - - Ins - I 66983094 66983097 1 40 642.648 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 9 4 10 10 20 11 20 4 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759557970 X 82538377 CT C 298 PASS - - - - - Del - D 82538377 82538386 1 15 324.936 - - 8 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 2 4 2 5 9 19 9 19 2 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759558405 X 84985333 G GT 356 PASS - - - - - Ins - I 84985333 84985337 1 40 589.094 - - 3 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 7 4 9 8 21 30 21 30 9 8 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759559538 X 89807349 ATACT A 344 PASS - - - - - Del - D 89807349 89807357 4 30 487.405 - - 1 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 5 4 6 6 21 12 21 12 6 6 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759562218 X 103369076 CCCACT C 838 PASS MCART6 CCDS35363.1 r.? - - Del intronic D 103369076 103369082 5 52 811.137 - - 1 1 1 MCART6|CCDS35363.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MCART6|CCDS35363.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 22 10 22 0 0 ./. 12 3 15 5 25 14 25 14 15 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759563972 X 113812901 CTCTGTTTTTAAGAAAGTTCAATATCTAT C 261 PASS - - - - - Del - D 113812901 113812931 28 30 487.405 - - 1 1 1 - - ./. 0 0 0 0 15 23 15 23 0 0 ./. 5 4 5 3 17 17 17 18 5 4 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759564838 X 117447013 A AT 300 PASS - - - - - Ins - I 117447013 117447022 1 10 266.566 - - 8 1 1 - - ./. 0 0 0 0 20 26 20 26 0 0 ./. 1 4 5 7 18 20 18 20 5 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759565405 X 119413778 G GT 780 PASS FAM70A CCDS43986.1 r.? - - Ins intronic I 119413778 119413785 1 44 696.202 - - 6 1 1 FAM70A|CCDS43986.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM70A|CCDS43986.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 23 14 23 0 0 ./. 3 10 7 10 23 27 23 27 7 10 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759566894 X 126549782 AC A 660 PASS - - - - - Del - D 126549782 126549785 1 40 595.717 - - 2 1 1 - - ./. 0 0 0 0 25 16 25 16 0 0 ./. 7 4 10 5 22 28 22 28 10 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759568483 X 134445460 A AT 660 PASS ZNF75D CCDS14648.1 r.? - - Ins intronic I 134445460 134445468 1 40 589.094 - - 7 1 1 ZNF75D|CCDS14648.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF75D|CCDS14648.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 7 6 9 28 28 28 29 6 9 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759569329 X 138662494 G GA 300 PASS MCF2 CCDS48175.1 r.? - - Ins downstream I 138662494 138662503 1 6 267.77 - - 8 1 1 MCF2|CCDS48175.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MCF2|CCDS48175.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 16 25 16 25 0 0 ./. 0 5 5 5 17 20 17 20 5 5 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759569474 X 139226879 CA C 360 PASS - - - - - Del - D 139226879 139226881 1 7 313.497 - - 1 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 0 6 0 7 4 11 4 11 0 7 1 1 1 1 1 1 1 1 2772636 PD7455a PD7455b 2759572019 X 151080861 TC T 569 PASS MAGEA4 CCDS14702.1 r.? - - Del upstream D 151080861 151080867 1 27 531.928 - - 5 1 1 MAGEA4|CCDS14702.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 MAGEA4|CCDS14702.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 8 4 11 12 23 12 23 4 11 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755778797 1 84647277 ATTG A 300 PASS PRKACB CCDS691.1 r.? - - Del intronic D 84647277 84647289 3 12 268.957 - - 3 1 1 PRKACB|CCDS691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKACB|CCDS691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 2 3 24 24 24 24 2 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755783234 1 99779363 AAC A 329 PASS ENSG00000117600 CCDS757.1 r.? - - Del downstream D 99779363 99779367 2 12 313.718 - - 1 1 - ENSG00000117600|CCDS757.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000117600|CCDS757.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 1 0 0 28 24 28 24 5 1 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755784744 1 105244852 TA T 360 PASS - - - - - Del - D 105244852 105244862 1 15 322.146 - - 9 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 4 2 4 33 20 33 20 2 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755789477 1 121362229 AC A 600 PASS - - - - - Del - D 121362229 121362231 1 19 968.245 - - 1 1 1 - - ./. 0 0 0 0 28 46 28 46 0 0 ./. 18 0 21 0 152 49 152 49 21 0 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755798588 1 164939463 AATG A 418 PASS - - - - - Del - D 164939463 164939470 3 16 430.331 - - 2 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 1 7 3 8 18 20 18 20 3 8 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755805056 1 186684276 C CT 420 PASS - - - - - Ins - I 186684276 186684282 1 18 372.325 - - 5 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 2 5 4 9 19 36 19 36 4 9 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755823018 1 237414406 AG A 720 PASS RYR2 ENST00000366574 r.? - - Del intronic D 237414406 237414408 1 48 644.895 - - 1 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 5 7 6 9 24 23 25 23 6 9 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755823702 1 239325499 GA G 300 PASS - - - - - Del - D 239325499 239325507 1 12 268.355 - - 7 1 1 - - ./. 0 0 0 0 16 6 16 6 0 0 ./. 3 2 4 3 23 32 23 32 4 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755826086 1 245258265 TGACCATAAGGACAGAAAGCA T 377 PASS EFCAB2 CCDS44341.1 r.? - - Del intronic D 245258265 245258287 20 54 699.288 - - 1 1 1 EFCAB2|CCDS44341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EFCAB2|CCDS44341.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 8 5 5 28 30 28 34 5 9 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755829079 10 3649386 G GA 420 PASS - - - - - Ins - I 3649386 3649392 1 18 373.585 - - 5 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 5 3 7 24 22 24 22 3 7 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755837558 10 26657125 CACTT C 269 PASS - - - - - Del - D 26657125 26657131 4 6 269.857 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 0 5 0 7 18 30 18 30 0 7 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755849871 10 64429750 G GT 300 PASS ZNF365 CCDS7264.1 r.? - - Ins intronic I 64429750 64429757 1 12 265.041 - - 6 1 1 ZNF365|CCDS7264.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF365|CCDS7264.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 4 4 22 41 22 41 4 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755876842 11 11668252 GT G 300 PASS - - - - - Del - D 11668252 11668255 1 10 270.339 - - 2 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 1 4 1 27 14 27 14 4 1 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755910108 11 119920945 CG C 300 PASS - - - - - Del - D 119920945 119920948 1 10 270.339 - - 2 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 1 5 3 18 22 18 22 5 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755913335 11 130425283 GC G 480 PASS - - - - - Del - D 130425283 130425286 1 24 432.543 - - 2 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 5 5 5 21 23 21 23 5 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755920618 12 17365015 GCA G 300 PASS - - - - - Del - D 17365015 17365034 2 12 270.374 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 3 2 3 18 26 18 26 2 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755920973 12 18257243 TGA T 300 PASS - - - - - Del - D 18257243 18257259 2 12 269.772 - - 7 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 3 2 3 2 21 16 21 16 3 2 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755925454 12 31208118 CT C 259 PASS AC008013.1 ENST00000500527 r.? - - Del intronic D 31208118 31208120 1 8 376.115 - - 1 1 1 AC008013.1|ENST00000500527|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC008013.1|ENST00000500527|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 0 7 0 9 22 30 22 30 0 9 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755938618 12 75481190 GA G 420 PASS KCNC2 CCDS9005.1 r.? - - Del intronic D 75481190 75481194 1 14 378.523 - - 3 1 1 KCNC2|CCDS9005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNC2|CCDS9005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 6 1 8 2 20 25 20 25 8 2 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755954742 12 126704822 TA T 300 PASS - - - - - Del - D 126704822 126704832 1 10 269.772 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 1 4 1 18 17 18 17 4 1 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755966690 13 43061288 TC T 540 PASS - - - - - Del - D 43061288 43061290 1 30 487.18 - - 1 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 5 4 5 5 18 26 18 26 5 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755982608 13 91817597 GA G 420 PASS - - - - - Del - D 91817597 91817605 1 20 379.386 - - 7 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 3 4 3 20 27 20 27 4 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755988392 13 108678283 TA T 300 PASS - - - - - Del - D 108678283 108678292 1 12 270.99 - - 8 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 3 2 4 2 24 24 24 24 4 2 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2755998941 14 45232308 A AT 300 PASS - - - - - Ins - I 45232308 45232317 1 12 268.232 - - 8 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 3 2 4 24 23 24 23 2 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756019708 15 20117967 GTGAC G 347 PASS - - - - - Del - D 20117967 20117973 4 13 645.823 - - 1 1 1 - - ./. 0 0 0 0 23 12 23 12 0 0 ./. 12 0 11 0 125 32 127 32 13 0 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756033498 15 60641225 C CG 360 PASS ANXA2 CCDS10175.1 r.? - - Ins intronic I 60641225 60641230 1 7 322.008 - - 4 1 1 ANXA2|CCDS10175.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANXA2|CCDS10175.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 0 6 3 6 29 26 29 26 3 6 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756040474 15 81817277 A AT 300 PASS - - - - - Ins - I 81817277 81817286 1 12 268.34 - - 8 1 1 - - ./. 0 0 0 0 21 14 21 14 0 0 ./. 2 3 3 3 30 19 30 19 3 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756057749 16 26292507 TA T 480 PASS - - - - - Del - D 26292507 26292517 1 25 433.778 - - 9 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 4 8 6 27 20 27 20 8 6 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756128034 18 77626984 GGTGCTGAGAGGTCTGT G 265 PASS KCNG2 CCDS12019.1 r.? - - Del intronic D 77626984 77627032 16 14 378.667 - - 2 1 1 KCNG2|CCDS12019.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNG2|CCDS12019.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 27 17 27 0 0 ./. 6 1 2 0 41 40 41 41 8 1 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756146584 19 47553744 G GT 290 PASS NPAS1 CCDS12694.1 r.? - - Ins downstream I 47553744 47553747 1 14 375.728 - - 2 1 1 NPAS1|CCDS12694.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TMEM160|CCDS12695.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 16 17 16 17 0 0 ./. 1 6 4 8 26 34 26 35 4 8 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756149345 19 53719645 TAAC T 449 PASS ZNF818P ENST00000344759 r.? - - Del downstream D 53719645 53719652 3 24 434.22 - - 2 1 1 ZNF818P|ENST00000344759|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ZNF818P|ENST00000344759|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 17 6 17 6 0 0 ./. 5 3 6 4 24 20 24 20 6 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756159530 2 25774419 C CAGG 300 PASS DTNB CCDS46237.1 r.? - - Ins intronic I 25774419 25774423 3 10 260.111 - - 1 1 1 DTNB|CCDS46237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DTNB|CCDS46237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 4 1 5 19 23 19 23 1 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756166776 2 47100930 AGGC A 449 PASS - - - - - Del - D 47100930 47100935 3 25 430.627 - - 1 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 4 4 6 18 21 18 21 4 6 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756185349 2 113638642 CTG C 360 PASS - - - - - Del - D 113638642 113638662 2 15 321.766 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 4 2 5 26 36 26 36 2 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756196092 2 149234576 T TA 360 PASS MBD5 CCDS33302.1 r.? - - Ins intronic I 149234576 149234585 1 16 319.358 - - 8 1 1 MBD5|CCDS33302.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MBD5|CCDS33302.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 9 11 0 0 ./. 3 3 3 3 23 23 23 23 3 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756198745 2 158083087 C CTTAAAACGTTTGATAGAATTCAAACGTTTCTGGAAGTATTCT 377 PASS - - - - - Ins - I 158083087 158083090 42 50 371.044 - - 0 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 9 4 0 0 10 13 19 17 9 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756207677 2 187609146 G GA 600 PASS FAM171B CCDS33347.1 r.? - - Ins intronic I 187609146 187609154 1 36 532.263 - - 7 1 1 FAM171B|CCDS33347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM171B|CCDS33347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 21 15 21 0 0 ./. 5 5 8 6 28 29 28 30 8 6 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756209539 2 193988055 A AT 360 PASS - - - - - Ins - I 193988055 193988065 1 15 318.154 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 2 4 2 15 20 15 20 4 2 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756220733 2 228313456 GT G 269 PASS - - - - - Del - D 228313456 228313458 1 6 269.142 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 0 5 1 7 20 23 20 23 1 7 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756241003 20 49364460 TC T 356 PASS PARD6B CCDS33485.1 r.? - - Del intronic D 49364460 49364463 1 21 434.549 - - 2 1 1 PARD6B|CCDS33485.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD6B|CCDS33485.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 6 3 7 22 29 22 29 3 7 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756242909 20 54725502 AAG A 300 PASS - - - - - Del - D 54725502 54725509 2 12 271.969 - - 3 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 2 3 3 5 28 25 28 25 3 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756245469 21 9450612 AT A 317 PASS - - - - - Del - D 9450612 9450618 1 33 652.912 - - 5 1 1 - - ./. 0 0 0 0 21 39 21 39 0 0 ./. 2 10 1 3 50 228 50 228 2 10 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756276661 3 10151332 AGGC A 291 PASS - - - - - Del - D 10151332 10151337 3 20 377.492 - - 1 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 3 4 4 4 17 23 17 23 4 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756277139 3 11657770 G GT 269 PASS VGLL4 CCDS2606.1 r.? - - Ins intronic I 11657770 11657772 1 12 266.025 - - 1 1 1 VGLL4|CCDS2606.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VGLL4|CCDS2606.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 2 3 5 23 28 23 29 3 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756288749 3 50758470 GT G 420 PASS DOCK3 CCDS46835.1 r.? - - Del intronic D 50758470 50758480 1 8 377.492 - - 9 1 1 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 15 24 15 0 0 ./. 0 7 3 7 30 30 30 30 3 7 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756291400 3 58723031 TCA T 300 PASS C3orf67 CCDS33776.1 r.? - - Del downstream D 58723031 58723050 2 12 266.627 - - 9 1 - C3orf67|CCDS33776.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C3orf67|ENST00000486145|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 13 24 13 0 0 ./. 2 3 2 4 23 19 23 19 2 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756320303 3 156368178 GA G 300 PASS - - - - - Del - D 156368178 156368180 1 6 269.637 - - 1 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 0 5 1 7 12 26 12 26 1 7 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756346626 4 40477100 T TTAA 449 PASS RBM47 CCDS3460.1 r.? - - Ins intronic I 40477100 40477106 3 16 416.808 - - 1 1 1 RBM47|CCDS3460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RBM47|CCDS3460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 7 1 7 2 23 19 23 19 7 2 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756348582 4 46400748 G GT 420 PASS GABRA2 ENST00000510861 r.? - - Ins intronic I 46400748 46400756 1 20 372.534 - - 7 1 1 GABRA2|ENST00000510861|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GABRA2|ENST00000510861|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 27 7 27 0 0 ./. 4 3 5 3 23 28 23 28 5 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756349385 4 48834431 TAGTG T 300 PASS OCIAD1 CCDS47052.1 r.? - - Del intronic D 48834431 48834439 4 10 269.536 - - 1 1 1 OCIAD1|CCDS47052.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 OCIAD1|CCDS47052.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 1 5 1 31 17 31 17 5 1 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756352688 4 59662550 G GA 360 PASS - - - - - Ins - I 59662550 59662556 1 12 319.831 - - 5 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 1 6 2 26 14 26 14 6 2 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756360801 4 85204881 C CT 300 PASS - - - - - Ins - I 85204881 85204891 1 12 262.311 - - 9 1 1 - - ./. 0 0 0 0 9 8 9 9 0 0 ./. 2 3 2 3 13 21 13 21 2 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756364847 4 99695461 T TG 300 PASS - - - - - Ins - I 99695461 99695467 1 12 266.526 - - 5 1 1 - - ./. 0 0 0 0 10 13 10 14 0 0 ./. 2 3 2 4 23 20 23 20 2 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756373816 4 129117421 AAG A 269 PASS LARP1B CCDS3738.1 r.? - - Del intronic D 129117421 129117425 2 6 252.076 - - 1 1 - LARP1B|CCDS3738.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LARP1B|CCDS3738.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 14 23 14 0 0 ./. 5 0 5 0 34 18 34 18 6 0 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756374745 4 132264346 TCTC T 538 PASS - - - - - Del - D 132264346 132264352 3 35 539.072 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 6 4 7 28 24 28 24 4 7 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756375066 4 132974981 TA T 480 PASS - - - - - Del - D 132974981 132974987 1 24 431.258 - - 5 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 5 3 6 4 21 24 21 24 6 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756415622 5 67444881 C CA 300 PASS - - - - - Ins - I 67444881 67444890 1 12 265.132 - - 8 1 1 - - ./. 0 0 0 0 22 11 23 11 0 0 ./. 2 3 3 4 21 31 21 31 3 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756416557 5 71469088 C CT 480 PASS MAP1B CCDS4012.1 r.? - - Ins intronic I 71469088 71469091 1 21 427.101 - - 2 1 1 MAP1B|CCDS4012.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAP1B|CCDS4012.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 15 26 16 0 0 ./. 6 2 7 3 26 22 26 22 7 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756433185 5 130593920 G GT 360 PASS - - - - - Ins - I 130593920 130593930 1 15 318.52 - - 9 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 2 4 3 5 21 30 21 30 3 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756439216 5 152324603 TA T 267 PASS - - - - - Del - D 152324603 152324613 1 12 323.336 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 1 5 1 5 28 23 28 23 1 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756449090 6 1827515 A ATGTATATACACACGTTTTAGAAAACCTGTATATACACACGTTTTGGAAAACC 262 PASS GMDS CCDS4474.1 r.? - - Ins intronic I 1827515 1827529 52 12 136.05 - - 0 1 1 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 5 1 0 0 15 21 19 22 5 1 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756497158 6 155983122 A AT 420 PASS - - - - - Ins - I 155983122 155983131 1 14 373.66 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 1 6 1 6 19 28 20 28 1 6 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756498035 6 158703286 CT C 300 PASS - - - - - Del - D 158703286 158703288 1 12 269.308 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 4 25 24 25 24 3 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756498895 6 161162650 GTC G 269 PASS PLG CCDS5279.1 r.? - - Del intronic D 161162650 161162668 2 12 268.104 - - 8 1 1 PLG|CCDS5279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLG|CCDS5279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 2 3 2 3 24 26 24 26 2 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756500296 6 165133723 GAAAC G 360 PASS - - - - - Del - D 165133723 165133733 4 15 323.892 - - 2 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 4 2 6 18 32 18 32 2 6 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756517018 7 47059494 ATG A 300 PASS - - - - - Del - D 47059494 47059512 2 12 269.324 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 3 2 20 18 20 18 3 2 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756524777 7 68668984 A AT 480 PASS - - - - - Ins - I 68668984 68668993 1 25 422.248 - - 8 1 1 - - ./. 0 0 0 0 18 6 18 6 0 0 ./. 4 4 4 4 21 17 21 17 4 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756528178 7 77588330 TTTCAAG T 261 PASS PHTF2 CCDS47622.1 r.? - - Del downstream D 77588330 77588337 6 30 485.866 - - 1 1 1 PHTF2|CCDS47622.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PHTF2|CCDS47622.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 5 6 5 26 21 26 21 6 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756540906 7 121188698 TGACAA T 358 PASS - - - - - Del - D 121188698 121188707 5 14 377.294 - - 1 1 1 - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 1 6 3 6 25 25 25 25 3 6 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756563945 8 29411547 G GT 557 PASS - - - - - Ins - I 29411547 29411554 1 35 534.668 - - 6 1 1 - - ./. 0 0 0 0 11 12 12 12 0 0 ./. 4 6 6 6 22 34 22 34 6 6 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756563956 8 29452489 CATA C 327 PASS - - - - - Del - D 29452489 29452497 3 20 373.665 - - 2 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 4 4 4 17 23 17 23 4 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756570011 8 53854107 CTG C 300 PASS NPBWR1 CCDS6151.1 r.? - - Del downstream D 53854107 53854126 2 10 270.344 - - 9 1 - NPBWR1|CCDS6151.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 NPBWR1|CCDS6151.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 1 4 1 22 35 22 35 4 1 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756581797 8 96170575 GA G 360 PASS PLEKHF2 CCDS6267.1 r.? - - Del downstream D 96170575 96170579 1 16 324.413 - - 3 1 1 PLEKHF2|CCDS6267.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PLEKHF2|CCDS6267.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 20 10 20 10 0 0 ./. 3 3 5 3 25 27 25 27 5 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756586635 8 113082026 C CT 300 PASS - - - - - Ins - I 113082026 113082035 1 10 266.732 - - 8 1 1 - - ./. 0 0 0 0 10 31 10 31 0 0 ./. 1 4 2 5 22 26 23 26 2 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756604483 9 26239577 G GA 300 PASS - - - - - Ins - I 26239577 26239582 1 12 267.634 - - 4 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 3 2 3 2 28 21 28 21 3 2 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756605126 9 28542271 G GA 300 PASS LINGO2 CCDS6524.1 r.? - - Ins intronic I 28542271 28542281 1 12 264.021 - - 9 1 1 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 23 21 23 0 0 ./. 2 3 2 3 29 25 29 25 2 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756615876 9 82012735 GC G 300 PASS - - - - - Del - D 82012735 82012740 1 10 269.44 - - 4 1 1 - - ./. 0 0 0 0 12 24 12 24 0 0 ./. 1 4 2 5 13 21 13 21 2 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756620387 9 97497361 GA G 300 PASS MIR24-1 CCDS6713.1 r.? - - Del intronic D 97497361 97497365 1 12 270.644 - - 3 1 1 MIR24-1|CCDS6713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MIR24-1|CCDS6713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 2 3 2 3 27 23 27 23 2 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756645031 X 46576240 TA T 360 PASS SLC9A7 CCDS14269.1 r.? - - Del intronic D 46576240 46576242 1 16 325.037 - - 1 1 1 SLC9A7|CCDS14269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC9A7|CCDS14269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 3 3 4 5 30 28 30 28 4 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756646486 X 53474463 T TG 540 PASS - - - - - Ins - I 53474463 53474464 1 30 471.902 - - 0 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 4 6 6 28 25 28 26 6 6 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756646952 X 55549812 C CACACATATATGTATATATATGTATATATATACACATATGTGTGTGT 360 PASS - - - - - Ins - I 55549812 55549823 46 15 158.869 - - 0 1 - - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 4 0 0 24 21 24 21 2 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756648614 X 68187748 C CAT 300 PASS - - - - - Ins - I 68187748 68187758 2 12 264.844 - - 4 1 - - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 2 3 27 23 27 23 2 3 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756653875 X 89736535 A AT 258 PASS - - - - - Ins - I 89736535 89736544 1 12 267.252 - - 8 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 2 4 4 24 25 24 25 4 4 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756660340 X 119360500 TC T 420 PASS - - - - - Del - D 119360500 119360503 1 18 379.21 - - 2 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 5 3 5 14 26 14 26 3 5 1 1 1 1 1 1 1 1 2772597 PD8823a PD8823b 2756661876 X 125594519 C CT 309 PASS - - - - - Ins - I 125594519 125594521 1 15 319.619 - - 1 1 1 - - ./. 0 0 0 0 13 7 14 7 0 0 ./. 2 4 3 5 20 21 20 21 3 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776261286 1 43060021 CA C 360 PASS CCDC30 CCDS30690.1 r.? - - Del intronic D 43060021 43060026 1 16 321.208 - - 4 1 1 CCDC30|CCDS30690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC30|CCDS30690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 9 20 9 0 0 ./. 3 3 3 3 26 18 26 18 3 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776277438 1 93887571 G GA 418 PASS - - - - - Ins - I 93887571 93887580 1 25 422.658 - - 8 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 4 5 5 24 26 24 26 5 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776280557 1 103776254 CAA C 449 PASS - - - - - Del - D 103776254 103776257 2 24 429.882 - - 2 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 3 6 3 28 18 28 18 6 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776291956 1 154255919 CG C 600 PASS - - - - - Del - D 154255919 154255923 1 20 528.322 - - 3 1 1 - - ./. 0 0 0 0 20 31 20 31 0 0 ./. 1 9 3 9 11 33 11 33 3 10 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776293844 1 158757898 AT A 1440 PASS - - - - - Del - D 158757898 158757900 1 133 1289.65 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 18 10 24 33 44 33 44 10 24 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776298812 1 172447728 AAG A 300 PASS - - - - - Del - D 172447728 172447748 2 12 268.676 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 3 2 4 31 27 31 27 2 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776311392 1 206990423 G GA 300 PASS IL19 CCDS1468.1 r.? - - Ins intronic I 206990423 206990433 1 12 263.258 - - 9 1 1 IL19|CCDS1468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL19|CCDS1468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 16 12 0 0 ./. 2 3 2 3 32 37 32 37 2 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776313405 1 212510999 ACTTTCATTGCTTTG A 406 PASS PPP2R5A CCDS1503.1 r.? - - Del intronic D 212510999 212511014 14 39 751.692 - - 1 1 1 PPP2R5A|CCDS1503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP2R5A|CCDS1503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 2 12 2 12 19 30 19 30 2 12 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776314767 1 216291687 T TTCTAACTAGAGACACCTTGAATACC 319 PASS USH2A CCDS31025.1 r.? - - Ins intronic I 216291687 216291714 25 40 425.522 - - 1 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 7 4 1 1 23 23 30 26 8 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776321121 1 233861791 GA G 960 PASS - - - - - Del - D 233861791 233861801 1 45 859.163 - - 9 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 14 2 18 4 38 18 38 18 18 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776331328 10 8111432 TCA T 660 PASS GATA3 CCDS31143.1 r.1493-3_1493-2delca c.925-3_925-2delca p.? Del ess splice D 8111432 8111435 2 42 591.211 - - 1 1 1 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 ./. 0 0 0 0 15 26 15 26 0 0 ./. 6 5 9 6 28 19 28 19 9 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776365326 10 106354252 CAG C 540 PASS - - - - - Del - D 106354252 106354255 2 30 483.992 - - 1 1 1 - - ./. 0 0 0 0 19 21 19 21 0 0 ./. 4 5 4 7 20 28 20 28 4 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776365463 10 107031383 CT C 300 PASS - - - - - Del - D 107031383 107031386 1 12 269.553 - - 2 1 1 - - ./. 0 0 0 0 20 7 20 7 0 0 ./. 2 3 3 3 27 22 27 22 3 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776366515 10 110012080 GTTATT G 269 PASS - - - - - Del - D 110012080 110012088 5 10 269.553 - - 1 1 1 - - ./. 0 0 0 0 9 21 9 21 0 0 ./. 1 4 1 6 20 31 20 31 1 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776372344 10 126720527 C CT 389 PASS CTBP2 CCDS7644.1 r.? - - Ins upstream I 126720527 126720529 1 20 372.558 - - 1 1 1 CTBP2|CCDS7644.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CTBP2|CCDS7643.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 11 8 0 0 ./. 3 4 4 4 22 21 22 21 4 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776374335 10 132326735 C CA 360 PASS - - - - - Ins - I 132326735 132326736 1 12 311.423 - - 0 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 1 5 0 2 11 23 11 23 1 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776374763 10 133976203 G GA 480 PASS JAKMIP3 CCDS44494.1 r.? - - Ins intronic I 133976203 133976208 1 25 426.469 - - 4 1 1 JAKMIP3|CCDS44494.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 JAKMIP3|CCDS44494.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 4 4 5 5 30 19 31 19 5 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776392885 11 50236606 G GT 360 PASS - - - - - Ins - I 50236606 50236608 1 15 320.597 - - 1 1 1 - - ./. 0 0 0 0 17 26 17 26 0 0 ./. 4 2 5 4 20 17 20 17 5 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776405957 11 94714818 CTT C 360 PASS KDM4D CCDS8302.1 r.? - - Del intronic D 94714818 94714823 2 15 324.209 - - 4 1 1 KDM4D|CCDS8302.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KDM4D|CCDS8302.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 2 4 2 9 20 33 20 33 2 9 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776417424 11 128370255 TTTGAAAGGAAATTCTCTCTCAACTTTCTTATTTATTTATACATTATATAAATACATTTTTAAACCAAAAAAGGACCGTTTTTCCAATGGGAAAAAGTCTTGTTTGAGATG T 464 PASS ETS1 CCDS8475.1 r.? - - Del intronic D 128370255 128370366 110 77 862.15 - - 1 1 1 ETS1|CCDS8475.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ETS1|CCDS8475.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 10 6 0 0 17 10 27 16 10 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776440074 12 60885748 AAT A 480 PASS - - - - - Del - D 60885748 60885752 2 25 431.719 - - 1 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 4 4 4 7 15 28 15 28 4 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776441263 12 64453382 T TA 300 PASS SRGAP1 CCDS8967.1 r.? - - Ins intronic I 64453382 64453392 1 12 267.19 - - 9 1 1 SRGAP1|CCDS8967.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SRGAP1|CCDS8967.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 2 3 3 5 18 30 18 30 3 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776444335 12 73974426 T TA 358 PASS - - - - - Ins - I 73974426 73974435 1 18 374.066 - - 8 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 2 5 5 6 25 29 25 29 5 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776463874 12 131726577 GCATT G 449 PASS - - - - - Del - D 131726577 131726584 4 25 429.913 - - 1 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 4 4 5 6 23 28 23 28 5 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776470737 13 32445368 A AT 300 PASS - - - - - Ins - I 32445368 32445370 1 10 265.246 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 4 1 4 13 27 13 27 1 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776484243 13 70068509 CA C 660 PASS - - - - - Del - D 70068509 70068516 1 42 594.258 - - 6 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 6 5 7 6 29 19 29 19 7 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776487102 13 77721126 GAA G 480 PASS MYCBP2 CCDS31994.1 r.? - - Del intronic D 77721126 77721129 2 21 433.063 - - 2 1 1 MYCBP2|CCDS31994.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYCBP2|CCDS31994.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 2 7 4 23 19 23 19 7 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776492313 13 93659153 A AT 420 PASS - - - - - Ins - I 93659153 93659161 1 18 374.716 - - 7 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 2 5 2 6 25 22 25 22 2 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776506965 14 37596769 TACTA T 660 PASS SLC25A21 CCDS9663.1 r.? - - Del intronic D 37596769 37596777 4 36 596.005 - - 1 1 1 SLC25A21|CCDS9663.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC25A21|CCDS9663.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 8 3 8 6 30 28 30 28 8 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776508721 14 42460676 C CA 360 PASS - - - - - Ins - I 42460676 42460683 1 12 321.481 - - 6 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 5 2 5 16 33 16 33 2 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776512582 14 53809296 T TC 360 PASS - - - - - Ins - I 53809296 53809302 1 15 321.481 - - 5 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 2 4 2 27 19 27 19 4 2 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776522586 14 80097598 G GA 540 PASS NRXN3 CCDS45145.1 r.? - - Ins intronic I 80097598 80097602 1 28 481.62 - - 3 1 1 NRXN3|CCDS45145.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRXN3|CCDS45145.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 6 3 11 5 33 31 33 31 11 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776531756 14 105981126 TTA T 300 PASS - - - - - Del - D 105981126 105981142 2 10 270.911 - - 7 1 - - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 1 4 1 42 33 42 33 4 1 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776535327 15 26085743 T TA 420 PASS ATP10A CCDS32178.1 r.? - - Ins intronic I 26085743 26085753 1 20 366.857 - - 9 1 1 ATP10A|CCDS32178.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP10A|CCDS32178.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 10 20 10 0 0 ./. 3 4 6 5 21 36 21 36 6 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776545053 15 53702135 T TC 600 PASS - - - - - Ins - I 53702135 53702140 1 35 533.715 - - 4 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 4 6 4 18 15 18 15 6 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776545567 15 55020428 A AG 397 PASS - - - - - Ins - I 55020428 55020431 1 14 374.684 - - 2 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 1 6 3 8 27 31 28 31 3 8 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776545924 15 55959418 A AC 300 PASS PRTG CCDS42040.1 r.? - - Ins intronic I 55959418 55959419 1 12 259.633 - - 0 1 1 PRTG|CCDS42040.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRTG|CCDS42040.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 15 17 0 0 ./. 2 3 2 3 16 27 18 27 2 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776555292 15 80403360 GA G 780 PASS ZFAND6 CCDS10313.1 r.? - - Del intronic D 80403360 80403365 1 54 704.787 - - 4 1 1 ZFAND6|CCDS10313.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZFAND6|CCDS10313.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 20 17 20 0 0 ./. 5 8 7 11 20 33 20 33 7 11 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776577149 16 32334750 AAAG A 492 PASS - - - - - Del - D 32334750 32334754 3 17 866.553 - - 1 1 1 - - ./. 0 0 0 0 19 32 19 32 0 0 ./. 16 0 23 0 89 51 89 51 23 0 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776586018 16 67070577 G GT 420 PASS CBFB CCDS45508.1 r.462_463insu c.201_202insT p.P70fs*13 Ins frameshift I 67070577 67070584 1 18 374.301 - - 6 1 1 CBFB|CCDS45508.1|r.462_463insu|c.201_202insT|p.P70fs*13|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 CBFB|CCDS45508.1|r.462_463insu|c.201_202insT|p.P70fs*13|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 15 23 15 23 0 0 ./. 2 5 4 7 19 22 20 22 4 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776590528 16 78685739 CT C 900 PASS WWOX CCDS42196.1 r.? - - Del intronic D 78685739 78685743 1 66 808.179 - - 3 1 1 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 23 17 23 0 0 ./. 5 10 9 11 22 31 22 31 9 11 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776624539 17 78664411 GGATTT G 298 PASS RPTOR CCDS11773.1 r.? - - Del intronic D 78664411 78664417 5 16 325.15 - - 1 1 1 RPTOR|CCDS11773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPTOR|CCDS11773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 3 3 4 5 24 25 24 25 4 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776631250 18 14224213 GCCCGGCCGCCCATAGTCTGGGAAGTGAGGAGTGCCTCTGCCCGGCCGCCCCATCTGGGATGTGGGGAGTGCCTCTGCCTGGCCGCCCATCATCTGGGAAGTGGGGAGCACCTCTGCCCGGCTGCCCCATCTGGGAAGTGAGGAGTGCCTCTCCCTGGCCACCCCATCTGGGAAGTGGGGAGCGCCTCTGCCCAGCCACCCCGTCTGGGAAGTGAGGAGCGCCTCTGCCCGGCCACCCCGTCTGGGAAGTGGGGAGTGCCTCTGCCCGGCCACCCTGTCTGGGAAGTGAGGAGCACCTCTGCCCAGCTGCCCCGCCTGGGAAGTGGGGAGCACCTCTGC G 298 PASS - - - - - Del - D 14224213 14224554 338 12 321.662 - - 1 1 1 - - ./. 0 0 0 0 15 19 17 19 0 0 ./. 5 1 0 0 21 21 28 23 5 1 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776642687 18 51245417 GA G 1080 PASS - - - - - Del - D 51245417 51245421 1 100 975.824 - - 3 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 9 9 15 13 33 34 33 34 15 13 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776648393 18 66738489 A AT 480 PASS - - - - - Ins - I 66738489 66738494 1 25 428.883 - - 4 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 4 4 4 5 22 27 22 27 4 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776662371 19 19493510 AC A 269 PASS GATAD2A CCDS12402.2 r.? - - Del upstream D 19493510 19493517 1 10 270.499 - - 6 1 1 GATAD2A|CCDS12402.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 GATAD2A|CCDS12402.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 12 16 12 0 0 ./. 1 4 2 5 23 25 23 25 2 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776666583 19 31393405 AGT A 300 PASS - - - - - Del - D 31393405 31393424 2 10 255.448 - - 9 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 1 4 1 4 24 29 24 29 1 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776668928 19 37018298 TAAG T 447 PASS AC092296.3 ENST00000500282 r.? - - Del intronic D 37018298 37018304 3 28 487.38 - - 1 1 1 AC092296.3|ENST00000500282|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC092296.3|ENST00000500282|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 6 3 10 3 36 18 37 18 11 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776683393 2 12547254 A AT 300 PASS - - - - - Ins - I 12547254 12547264 1 10 259.925 - - 9 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 4 1 4 1 38 31 40 31 4 1 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776686581 2 23940338 C CA 300 PASS - - - - - Ins - I 23940338 23940347 1 12 265.343 - - 8 1 1 - - ./. 0 0 0 0 24 18 24 18 0 0 ./. 2 3 4 4 22 19 22 21 4 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776710275 2 98286247 C CA 300 PASS - - - - - Ins - I 98286247 98286251 1 10 265.945 - - 3 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 4 1 4 1 19 13 20 13 4 1 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776710853 2 100251923 TTG T 300 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100251923 100251941 2 10 268.955 - - 8 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 1 4 2 32 17 32 17 4 2 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776723734 2 140888044 AT A 269 PASS - - - - - Del - D 140888044 140888054 1 10 268.955 - - 9 1 1 - - ./. 0 0 0 0 7 3 7 3 0 0 ./. 1 4 2 6 16 19 16 19 2 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776724318 2 142160096 T TA 509 PASS LRP1B CCDS2182.1 r.? - - Ins intronic I 142160096 142160106 1 24 476.895 - - 9 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 11 23 11 0 0 ./. 2 7 3 8 17 20 17 21 3 8 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776726416 2 149234699 G GA 300 PASS MBD5 CCDS33302.1 r.? - - Ins intronic I 149234699 149234709 1 12 264.139 - - 9 1 1 MBD5|CCDS33302.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MBD5|CCDS33302.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 20 15 20 0 0 ./. 2 3 2 3 19 24 19 24 2 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776731607 2 166468090 T TA 389 PASS CSRNP3 CCDS2225.1 r.? - - Ins intronic I 166468090 166468099 1 20 369.915 - - 8 1 1 CSRNP3|CCDS2225.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSRNP3|CCDS2225.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 10 0 0 ./. 3 4 3 7 26 28 26 28 3 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776753901 2 233257332 T TA 420 PASS - - - - - Ins - I 233257332 233257340 1 18 372.323 - - 7 1 1 - - ./. 0 0 0 0 8 29 8 30 0 0 ./. 2 5 8 7 23 32 23 32 8 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776760810 20 9390687 A AT 360 PASS PLCB4 CCDS13104.1 r.? - - Ins intronic I 9390687 9390694 1 16 322.34 - - 6 1 1 PLCB4|CCDS13104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLCB4|CCDS13104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 24 19 24 0 0 ./. 3 3 7 7 22 28 23 28 7 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776770091 20 35691385 CA C 269 PASS RBL1 CCDS13289.1 r.? - - Del intronic D 35691385 35691395 1 12 271.627 - - 9 1 1 RBL1|CCDS13289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBL1|CCDS13289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 3 2 3 2 32 25 32 25 3 2 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776777132 20 54854600 TA T 480 PASS - - - - - Del - D 54854600 54854608 1 21 434.001 - - 7 1 1 - - ./. 0 0 0 0 25 19 25 19 0 0 ./. 2 6 4 7 18 28 18 28 4 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776779514 20 62374475 T TG 660 PASS SLC2A4RG CCDS13537.1 r.1348_1349insg c.? p.? Ins 3'UTR variant I 62374475 62374483 1 40 588.548 - - 7 1 1 SLC2A4RG|CCDS13537.1|r.1348_1349insg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 SLC2A4RG|CCDS13537.1|r.1348_1349insg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 17 16 17 16 0 0 ./. 7 4 9 6 35 30 36 30 9 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776794016 21 40030512 GA G 420 PASS ERG CCDS13657.1 r.? - - Del intronic D 40030512 40030522 1 20 379.891 - - 9 1 1 ERG|CCDS13657.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ERG|CCDS13657.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 3 4 5 7 29 28 29 28 5 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776796757 21 47134349 AAC A 360 PASS PCBP3 CCDS42974.2 r.? - - Del intronic D 47134349 47134367 2 15 325.535 - - 8 1 1 PCBP3|CCDS42974.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCBP3|CCDS42974.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 16 24 16 0 0 ./. 2 4 2 4 22 28 22 28 2 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776802912 22 30440781 GTTC G 329 PASS AC003681.2 ENST00000504478 r.? - - Del intronic D 30440781 30440789 3 7 327.432 - - 2 1 1 AC003681.2|ENST00000504478|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC003681.2|ENST00000504478|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 0 6 0 7 19 27 19 27 0 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776808806 22 45264861 G GT 540 PASS - - - - - Ins - I 45264861 45264863 1 30 485.127 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 4 7 5 25 24 25 24 7 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776834882 3 74868623 ATTGT A 420 PASS - - - - - Del - D 74868623 74868642 4 18 376.073 - - 4 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 5 2 6 3 22 19 22 19 6 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776836333 3 76422465 ATTC A 329 PASS ROBO2 ENST00000487694 r.? - - Del intronic D 76422465 76422471 3 16 323.38 - - 1 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 3 3 5 3 16 20 16 20 5 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776838697 3 84483632 CT C 780 PASS - - - - - Del - D 84483632 84483639 1 56 700.657 - - 6 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 6 7 7 9 24 34 24 34 7 9 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776857118 3 145681119 C CA 300 PASS - - - - - Ins - I 145681119 145681128 1 10 265.871 - - 8 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 1 4 2 5 23 30 23 30 2 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776857730 3 147753276 TTATC T 329 PASS - - - - - Del - D 147753276 147753284 4 12 323.38 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 1 7 1 19 17 19 17 7 1 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776894816 4 62429829 GAA G 300 PASS LPHN3 ENST00000512091 r.? - - Del intronic D 62429829 62429834 2 12 267.537 - - 4 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 3 2 4 2 27 17 27 17 4 2 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776899953 4 77518190 TC T 360 PASS SHROOM3 CCDS3579.2 r.? - - Del intronic D 77518190 77518192 1 15 322.007 - - 1 1 1 SHROOM3|CCDS3579.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHROOM3|CCDS3579.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 2 6 2 20 15 20 15 6 2 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776900232 4 78316662 CG C 420 PASS - - - - - Del - D 78316662 78316666 1 18 376.478 - - 3 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 5 2 5 3 23 29 23 29 5 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776904810 4 92890595 TAA T 300 PASS - - - - - Del - D 92890595 92890598 2 10 269.343 - - 2 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 1 5 2 28 16 28 16 5 2 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776908548 4 106732337 C CA 269 PASS GSTCD CCDS43257.1 r.? - - Ins intronic I 106732337 106732345 1 10 266.333 - - 7 1 1 GSTCD|CCDS43257.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GSTCD|CCDS43257.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 24 15 24 0 0 ./. 4 1 6 2 14 14 14 14 6 2 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776926251 4 163150589 GA G 540 PASS - - - - - Del - D 163150589 163150594 1 28 481.807 - - 4 1 1 - - ./. 0 0 0 0 16 27 16 27 0 0 ./. 6 3 8 3 27 16 27 16 8 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776927004 4 165228080 A AT 540 PASS MARCH1 CCDS45732.1 r.? - - Ins intronic I 165228080 165228084 1 28 479.399 - - 3 1 1 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 3 7 5 23 22 23 22 7 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776931639 4 178920471 AC A 314 PASS - - - - - Del - D 178920471 178920473 1 17 859.489 - - 1 1 1 - - ./. 0 0 0 0 15 2 15 2 0 0 ./. 16 0 19 0 41 8 41 8 19 0 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776936475 4 190438383 G GA 420 PASS - - - - - Ins - I 190438383 190438390 1 18 372.866 - - 6 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 5 2 8 6 36 23 37 23 8 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776941208 5 10098465 C CA 600 PASS - - - - - Ins - I 10098465 10098474 1 32 533.177 - - 8 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 7 3 8 4 28 27 28 28 8 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776957755 5 59877415 G GT 420 PASS - - - - - Ins - I 59877415 59877417 1 20 373.224 - - 1 1 1 - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 3 4 6 6 26 28 28 28 6 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776971012 5 101671363 GATAA G 420 PASS - - - - - Del - D 101671363 101671373 4 8 377.438 - - 2 1 - - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 7 0 9 3 25 26 25 26 9 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776972372 5 105796054 TCCTTTGTATA T 406 PASS - - - - - Del - D 105796054 105796065 10 64 754.876 - - 1 1 1 - - ./. 0 0 0 0 13 26 13 26 0 0 ./. 7 7 7 7 23 29 23 29 7 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776978902 5 127091960 TA T 611 PASS - - - - - Del - D 127091960 127091962 1 40 588.903 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 7 4 8 26 29 26 29 4 8 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776981222 5 134284132 G GT 300 PASS PCBD2 CCDS43364.1 r.? - - Ins intronic I 134284132 134284142 1 12 265.384 - - 9 1 1 PCBD2|CCDS43364.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCBD2|CCDS43364.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 22 18 23 0 0 ./. 2 3 2 4 23 23 23 23 2 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776988843 5 157759357 AG A 600 PASS - - - - - Del - D 157759357 157759360 1 27 535.585 - - 2 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 8 2 8 3 37 23 37 23 8 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2776990216 5 161949765 TTGTC T 480 PASS - - - - - Del - D 161949765 161949773 4 24 431.358 - - 1 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 3 7 6 23 28 23 28 7 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777023593 6 71695303 GAC G 300 PASS - - - - - Del - D 71695303 71695319 2 12 269.709 - - 7 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 2 4 2 27 17 27 17 4 2 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777045003 6 143454352 C CT 420 PASS AIG1 CCDS5198.1 r.? - - Ins intronic I 143454352 143454361 1 14 373.378 - - 8 1 1 AIG1|CCDS5198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AIG1|CCDS5198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 1 6 2 8 15 28 15 29 2 8 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777057781 7 7961458 TA T 960 PASS - - - - - Del - D 7961458 7961462 1 72 861.932 - - 3 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 11 5 12 6 33 28 33 28 12 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777074558 7 54614251 C CCCCCGCCTG 290 PASS VSTM2A CCDS5512.2 r.? - - Ins intronic I 54614251 54614255 9 36 471.653 - - 0 1 - VSTM2A|CCDS5512.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VSTM2A|CCDS5512.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 4 17 4 0 0 ./. 5 5 0 0 21 23 21 23 5 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777077636 7 63642420 G GCCGCCGCCGCCGTCT 261 PASS - - - - - Ins - I 63642420 63642430 15 30 401.489 - - 0 1 - - - ./. 0 0 0 0 7 13 8 14 0 0 ./. 4 5 1 2 28 33 28 36 4 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777102905 7 130810380 AAC A 423 PASS MKLN1 ENST00000421797 r.? - - Del intronic D 130810380 130810385 2 30 485.175 - - 2 1 1 MKLN1|ENST00000421797|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MKLN1|ENST00000421797|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 4 7 5 28 21 28 21 7 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777108299 7 145606425 C CA 480 PASS ENSG00000237800 ENST00000439291 r.? - - Ins intronic I 145606425 145606432 1 16 426.45 - - 6 1 1 ENSG00000237800|ENST00000439291|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000237800|ENST00000439291|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 7 1 7 2 26 14 27 14 8 2 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777128192 8 36368628 GAGA G 449 PASS - - - - - Del - D 36368628 36368637 3 24 431.973 - - 2 1 1 - - ./. 0 0 0 0 24 15 24 15 0 0 ./. 5 3 7 4 41 24 41 24 7 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777133725 8 56572398 C CA 339 PASS - - - - - Ins - I 56572398 56572405 1 81 854.313 - - 6 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 8 8 9 10 29 33 29 33 9 10 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777134003 8 57434220 AT A 780 PASS AC012349.1 ENST00000499425 r.? - - Del intronic D 57434220 57434224 1 56 701.956 - - 3 1 1 AC012349.1|ENST00000499425|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC012349.1|ENST00000499425|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 7 6 9 7 29 21 29 21 9 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777134840 8 60305067 GA G 540 PASS - - - - - Del - D 60305067 60305077 1 24 485.367 - - 9 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 7 2 13 3 36 16 36 16 13 3 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777134894 8 60559303 TGTAA T 474 PASS - - - - - Del - D 60559303 60559312 4 42 593.963 - - 2 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 6 6 8 28 22 28 22 6 8 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777136039 8 64235647 G GCCTCCCGAGCAGCTGGGATTACAGGCATGCA 261 PASS - - - - - Ins - I 64235647 64235654 31 18 317.393 - - 0 1 1 - - ./. 0 0 0 0 18 14 18 17 0 0 ./. 8 1 0 0 23 20 29 24 8 1 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777147609 8 101286660 T TA 300 PASS RNF19A CCDS6286.1 r.? - - Ins intronic I 101286660 101286668 1 12 265.769 - - 7 1 1 RNF19A|CCDS6286.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF19A|CCDS6286.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 3 3 4 31 21 32 21 3 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777165037 9 7521083 C CA 360 PASS - - - - - Ins - I 7521083 7521091 1 15 320.986 - - 7 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 4 4 6 15 29 15 29 4 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777187565 9 98232581 TC T 720 PASS PTCH1 CCDS47996.1 r.? - - Del intronic D 98232581 98232584 1 49 644.981 - - 2 1 1 PTCH1|CCDS47996.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTCH1|CCDS47996.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 6 8 7 21 24 21 24 8 7 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777194328 9 119740801 C CAG 269 PASS ASTN2 CCDS48009.1 r.? - - Ins intronic I 119740801 119740809 2 12 262.069 - - 3 1 - ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 3 2 18 20 20 20 4 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777202340 X 5139044 TAGAC T 420 PASS - - - - - Del - D 5139044 5139056 4 20 378.984 - - 2 1 - - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 3 5 4 18 11 18 11 5 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777209617 X 35355051 CA C 420 PASS - - - - - Del - D 35355051 35355060 1 20 378.984 - - 8 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 3 6 5 26 20 26 20 6 5 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777216796 X 70893207 TG T 478 PASS - - - - - Del - D 70893207 70893210 1 30 486.062 - - 2 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 5 4 6 4 24 16 24 16 6 4 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777220114 X 86014250 ATCTC A 538 PASS DACH2 CCDS48140.1 r.? - - Del intronic D 86014250 86014256 4 35 541.406 - - 2 1 1 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 6 4 6 6 20 22 20 22 6 6 1 1 1 1 1 1 1 1 2822789 PD8826a PD8826b 2777225701 X 110631831 C CT 420 PASS DCX CCDS14556.1 r.? - - Ins intronic I 110631831 110631838 1 20 374.77 - - 6 1 1 DCX|CCDS14556.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DCX|CCDS14556.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 3 4 3 7 18 25 19 26 3 7 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687045904 1 42985687 ATAAT A 509 PASS CCDC30 ENST00000507855 r.? - - Del intronic D 42985687 42985695 4 30 484.129 - - 1 1 1 CCDC30|ENST00000507855|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCDC30|ENST00000507855|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 5 4 8 5 25 28 25 28 8 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687055283 1 73170244 C CT 420 PASS - - - - - Ins - I 73170244 73170247 1 20 372.33 - - 2 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 4 6 4 23 26 23 26 6 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687062209 1 95087031 G GCGCT 1018 PASS - - - - - Ins - I 95087031 95087036 4 84 921.899 - - 1 1 1 - - ./. 0 0 0 0 10 8 11 8 0 0 ./. 13 5 13 5 41 25 42 25 13 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687073096 1 145651246 T TA 300 PASS RNF115 CCDS922.1 r.? - - Ins intronic I 145651246 145651254 1 12 259.327 - - 7 1 1 RNF115|CCDS922.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF115|CCDS922.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 18 11 0 0 ./. 2 3 2 4 24 25 26 25 2 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687082525 1 173618893 TA T 300 PASS ANKRD45 CCDS1309.1 r.? - - Del intronic D 173618893 173618898 1 6 268.96 - - 4 1 1 ANKRD45|CCDS1309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD45|CCDS1309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 0 5 1 7 9 26 9 26 1 7 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687086321 1 186491251 GC G 1200 PASS - - - - - Del - D 186491251 186491253 1 117 1075.84 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 8 12 10 17 20 22 20 22 10 17 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687100218 1 228635117 A AT 360 PASS - - - - - Ins - I 228635117 228635124 1 7 319.14 - - 6 1 1 - - ./. 0 0 0 0 23 8 23 8 0 0 ./. 6 0 10 2 42 16 44 16 10 2 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687168697 11 41394760 C CT 300 PASS - - - - - Ins - I 41394760 41394768 1 12 267.298 - - 7 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 2 3 2 15 22 15 22 3 2 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687172773 11 56404124 TG T 389 PASS OR5AP2 CCDS31534.1 r.? - - Del downstream D 56404124 56404126 1 20 378.431 - - 1 1 1 OR5AP2|CCDS31534.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OR5AP2|CCDS31534.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 4 4 4 25 22 25 22 4 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687186158 11 98287359 T TG 300 PASS - - - - - Ins - I 98287359 98287360 1 6 266.696 - - 0 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 0 5 0 38 18 38 18 5 0 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687187297 11 101209259 TA T 480 PASS - - - - - Del - D 101209259 101209264 1 25 431.891 - - 4 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 4 5 7 22 29 22 29 5 7 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687187875 11 102979966 TAAG T 509 PASS DYNC2H1 CCDS44717.1 r.? - - Del upstream D 102979966 102979975 3 28 485.953 - - 2 1 1 DYNC2H1|CCDS44717.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 DYNC2H1|CCDS44717.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 6 4 9 26 32 26 32 4 9 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687205694 12 19515384 C CTTG 627 PASS PLEKHA5 CCDS44840.1 r.? - - Ins intronic I 19515384 19515388 3 48 622.96 - - 1 1 1 PLEKHA5|CCDS44840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLEKHA5|CCDS44840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 7 5 8 6 29 25 29 25 8 6 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687206197 12 20658347 AC A 300 PASS PDE3A CCDS31754.1 r.? - - Del intronic D 20658347 20658349 1 12 270.354 - - 1 1 1 PDE3A|CCDS31754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE3A|CCDS31754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 4 2 19 17 19 17 4 2 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687211395 12 37885765 TAA T 321 PASS - - - - - Del - D 37885765 37885769 2 20 378.495 - - 3 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 3 4 4 7 12 22 12 22 4 7 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687211998 12 39916416 CT C 300 PASS - - - - - Del - D 39916416 39916418 1 12 270.354 - - 1 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 2 3 3 3 16 27 16 27 3 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687225656 12 83325924 T TA 420 PASS TMTC2 CCDS9025.1 r.? - - Ins intronic I 83325924 83325932 1 14 371.873 - - 7 1 1 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 1 6 4 8 33 39 33 40 4 8 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687228896 12 94558640 TA T 269 PASS PLXNC1 CCDS9049.1 r.? - - Del intronic D 94558640 94558642 1 12 270.354 - - 1 1 1 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 2 4 4 21 18 21 18 4 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687229589 12 96139334 TTTGAA T 418 PASS NTN4 CCDS9054.1 r.? - - Del intronic D 96139334 96139340 5 21 432.566 - - 1 1 1 NTN4|CCDS9054.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTN4|CCDS9054.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 6 2 6 3 19 23 19 23 6 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687235708 12 114303643 AG A 300 PASS RBM19 CCDS9172.1 r.? - - Del intronic D 114303643 114303649 1 10 269.752 - - 5 1 1 RBM19|CCDS9172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBM19|CCDS9172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 1 4 1 40 18 40 18 4 1 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687239087 12 122655520 GGCT G 300 PASS IL31 CCDS31919.1 r.? - - Del downstream D 122655520 122655540 3 10 270.354 - - 6 1 1 IL31|CCDS31919.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 IL31|CCDS31919.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 1 5 1 34 22 34 22 5 1 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687241005 12 127506059 CA C 300 PASS AC078878.2 ENST00000512624 r.? - - Del intronic D 127506059 127506068 1 10 270.354 - - 8 1 1 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 1 4 3 5 20 28 20 28 3 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687255854 13 51901324 G GA 360 PASS - - - - - Ins - I 51901324 51901334 1 16 320.362 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 3 3 3 22 16 22 17 3 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687258993 13 62019177 A AT 300 PASS - - - - - Ins - I 62019177 62019180 1 12 266.768 - - 2 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 3 4 4 26 25 26 25 4 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687261348 13 69722243 G GT 360 PASS - - - - - Ins - I 69722243 69722245 1 12 321.567 - - 1 1 - - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 1 7 1 26 6 26 6 7 1 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687263308 13 75495427 C CT 480 PASS - - - - - Ins - I 75495427 75495431 1 24 428.755 - - 3 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 3 6 4 19 28 19 28 6 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687266644 13 86279041 G GA 360 PASS - - - - - Ins - I 86279041 86279048 1 16 317.352 - - 6 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 3 6 31 30 31 31 3 6 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687273785 13 107227952 TATTA T 987 PASS - - - - - Del - D 107227952 107227960 4 96 969.516 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 7 11 6 13 21 42 21 42 7 13 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687273821 13 107381915 AC A 300 PASS - - - - - Del - D 107381915 107381917 1 12 270.982 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 2 3 2 16 20 16 20 3 2 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687284933 14 43816915 CTG C 420 PASS - - - - - Del - D 43816915 43816923 2 18 379.697 - - 3 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 2 5 3 19 13 19 13 5 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687296804 14 78132035 C CA 300 PASS - - - - - Ins - I 78132035 78132045 1 6 268.202 - - 9 1 1 - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 0 5 0 7 5 27 6 27 0 7 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687304963 14 103518974 AAGAC A 540 PASS ENSG00000198752 CCDS9978.1 r.? - - Del intronic D 103518974 103518979 4 30 486.978 - - 1 1 1 ENSG00000198752|CCDS9978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000198752|CCDS9978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 5 4 6 21 30 21 30 4 6 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687308078 15 22894497 AAT A 360 PASS CYFIP1 CCDS10009.1 r.? - - Del intronic D 22894497 22894501 2 15 325.599 - - 1 1 1 CYFIP1|CCDS10009.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CYFIP1|CCDS10009.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 4 2 4 17 30 17 30 2 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687308502 15 23915717 TC T 420 PASS - - - - - Del - D 23915717 23915719 1 20 379.865 - - 1 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 3 4 4 4 22 25 22 25 4 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687311342 15 32698265 GCA G 296 PASS ENSG00000249931 ENST00000512626 r.? - - Del upstream D 32698265 32698284 2 16 314.16 - - 9 1 1 ENSG00000249931|ENST00000512626|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000249931|ENST00000512626|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 3 3 3 39 22 39 22 3 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687324530 15 70010727 GGA G 300 PASS - - - - - Del - D 70010727 70010744 2 12 271.332 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 3 3 35 22 35 22 3 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687325538 15 73311983 GAC G 300 PASS - - - - - Del - D 73311983 73311986 2 6 271.332 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 0 5 0 6 17 27 17 27 0 6 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687330782 15 89662985 CT C 420 PASS ABHD2 CCDS10348.1 r.? - - Del intronic D 89662985 89662989 1 20 379.865 - - 3 1 1 ABHD2|CCDS10348.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABHD2|CCDS10348.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 4 5 4 28 21 28 21 5 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687335994 16 1798833 C CT 360 PASS MAPK8IP3 CCDS10442.2 r.? - - Ins intronic I 1798833 1798843 1 15 321.192 - - 9 1 1 MAPK8IP3|CCDS10442.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAPK8IP3|CCDS10442.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 11 21 11 0 0 ./. 2 4 2 4 31 27 32 27 2 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687336541 16 3321480 CCCCCCACCTCTCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGCTGA C 263 PASS AJ003147.2 ENST00000427580 r.? - - Del downstream D 3321480 3321532 46 12 268.764 - - 1 1 1 AJ003147.2|ENST00000427580|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 AJ003147.2|ENST00000427580|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 3 0 0 24 28 26 31 2 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687338774 16 8336655 GA G 540 PASS - - - - - Del - D 8336655 8336663 1 28 485.701 - - 7 1 1 - - ./. 0 0 0 0 4 19 4 19 0 0 ./. 3 6 4 9 28 36 28 36 4 9 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687365239 17 1745457 G GT 300 PASS RPA1 CCDS11014.1 r.? - - Ins intronic I 1745457 1745467 1 10 267.76 - - 9 1 1 RPA1|CCDS11014.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RPA1|CCDS11014.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 4 1 4 18 31 18 31 1 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687365969 17 3599386 GC G 780 PASS P2RX5 CCDS11034.1 r.263delG c.? p.? Del 5'UTR variant D 3599386 3599390 1 56 703.763 - - 3 1 1 P2RX5|CCDS11034.1|r.263delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 P2RX5|ENST00000381833|r.122delG|c.25delG|p.A9fs*14|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 7 6 8 16 26 16 26 6 8 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687377185 17 36811673 CA C 509 PASS - - - - - Del - D 36811673 36811678 1 30 480.644 - - 4 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 5 7 7 15 21 15 21 7 7 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687377551 17 37686327 CTTTAT C 478 PASS CDK12 CCDS45666.1 r.? - - Del intronic D 37686327 37686338 5 30 488.471 - - 2 1 1 CDK12|CCDS45666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDK12|CCDS45666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 4 6 4 20 21 20 21 6 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687377663 17 38179594 C CT 420 PASS MED24 CCDS11359.1 r.2533_2534insa c.2039_2040insA p.T681fs*53 Ins frameshift I 38179594 38179596 1 14 374.503 - - 1 1 1 MED24|CCDS11359.1|r.2533_2534insa|c.2039_2040insA|p.T681fs*53|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 MED24|CCDS11359.1|r.2533_2534insa|c.2039_2040insA|p.T681fs*53|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 1 8 3 16 19 16 19 8 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687402717 18 30597879 G GA 300 PASS C18orf34 CCDS42424.1 r.? - - Ins intronic I 30597879 30597889 1 12 268.319 - - 9 1 1 C18orf34|CCDS42424.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C18orf34|CCDS42424.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 2 4 21 16 21 16 2 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687405343 18 40550866 TG T 337 PASS RIT2 CCDS11921.1 r.? - - Del intronic D 40550866 40550868 1 16 325.595 - - 1 1 1 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 3 5 4 20 18 20 18 5 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687445465 2 4952244 TG T 360 PASS - - - - - Del - D 4952244 4952246 1 15 322.932 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 4 3 4 18 20 18 20 3 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687461724 2 55483019 TC T 269 PASS MTIF2 CCDS1853.1 r.? - - Del intronic D 55483019 55483021 1 12 265.498 - - 1 1 1 MTIF2|CCDS1853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTIF2|CCDS1853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 3 2 3 23 23 23 23 2 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687465525 2 68356949 GTTAAC G 296 PASS WDR92 CCDS1884.1 r.2607_2611delGUUAA c.? p.? Del 3'UTR variant D 68356949 68356957 5 20 376.754 - - 1 1 1 WDR92|CCDS1884.1|r.2607_2611delGUUAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 WDR92|CCDS1884.1|r.2607_2611delGUUAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 4 3 5 21 20 21 20 3 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687469585 2 82928551 AAT A 569 PASS - - - - - Del - D 82928551 82928556 2 32 537.016 - - 2 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 7 3 7 5 22 27 22 27 7 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687499388 2 180341188 TA T 660 PASS ZNF385B CCDS33339.1 r.? - - Del intronic D 180341188 180341192 1 40 592.042 - - 3 1 1 ZNF385B|CCDS33339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF385B|CCDS33339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 7 4 8 5 30 23 30 23 8 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687502884 2 192265036 G GT 300 PASS MYO1B CCDS46477.1 r.? - - Ins intronic I 192265036 192265046 1 12 266.1 - - 9 1 1 MYO1B|CCDS46477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYO1B|CCDS46477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 2 3 2 34 29 34 29 3 2 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687511326 2 217575997 AGT A 269 PASS - - - - - Del - D 217575997 217576016 2 12 269.11 - - 9 1 - - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 3 2 31 28 31 28 3 2 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687539680 20 56499625 GTC G 600 PASS - - - - - Del - D 56499625 56499629 2 35 543.662 - - 1 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 6 4 7 5 25 25 25 25 7 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687560658 22 20789992 TCTC T 540 PASS SCARF2 CCDS46666.1 r.? - - Del intronic D 20789992 20789999 3 30 490.745 - - 2 1 1 SCARF2|CCDS46666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCARF2|CCDS46666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 4 6 7 24 33 24 33 6 7 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687586633 3 45036352 T TGG 298 PASS EXOSC7 CCDS2725.1 r.? - - Ins intronic I 45036352 45036354 2 16 310.92 - - 1 1 - EXOSC7|CCDS2725.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EXOSC7|CCDS2725.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 9 7 9 0 0 ./. 3 3 3 4 12 27 13 27 3 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687602806 3 96947383 GTA G 300 PASS EPHA6 CCDS46876.1 r.? - - Del intronic D 96947383 96947402 2 12 261.809 - - 9 1 - EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 2 3 2 3 20 22 20 22 2 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687603015 3 98126467 G GA 341 PASS - - - - - Ins - I 98126467 98126474 1 21 426.601 - - 6 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 2 6 6 33 19 33 19 6 6 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687605670 3 106983322 GAGGTCAGAAATCTTGGGTATGGATGCATCTTTAATTACATCTGCAAAATTCCTTCAAAGAAGTACTTGGATTTGTATTCGAATGAATAAGCAGA G 360 PASS - - - - - Del - D 106983322 106983417 94 15 322.961 - - 1 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 2 0 0 25 26 29 28 4 2 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687612019 3 127021302 TC T 360 PASS - - - - - Del - D 127021302 127021304 1 15 317.542 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 2 4 3 28 29 28 29 4 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687641172 4 20226002 TG T 300 PASS - - - - - Del - D 20226002 20226006 1 10 269.479 - - 3 1 1 - - ./. 0 0 0 0 4 6 4 6 0 0 ./. 4 1 5 1 24 24 24 24 5 1 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687641436 4 21038658 G GA 300 PASS KCNIP4 CCDS43217.1 r.? - - Ins intronic I 21038658 21038668 1 12 265.867 - - 9 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 2 4 3 26 20 26 20 4 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687645737 4 34458343 G GA 480 PASS - - - - - Ins - I 34458343 34458350 1 24 426.35 - - 6 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 3 6 5 46 25 47 26 6 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687654687 4 60606317 CTA C 300 PASS - - - - - Del - D 60606317 60606329 2 10 268.877 - - 5 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 1 4 2 5 16 23 16 23 2 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687667931 4 104651430 AG A 360 PASS - - - - - Del - D 104651430 104651432 1 15 323.375 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 2 6 4 29 24 29 24 6 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687682234 4 151266548 TG T 480 PASS LRBA CCDS3773.1 r.? - - Del intronic D 151266548 151266551 1 24 431.166 - - 2 1 1 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 5 4 5 22 21 22 21 4 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687702120 5 12104203 AC A 300 PASS - - - - - Del - D 12104203 12104208 1 12 268.111 - - 4 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 2 3 5 5 21 28 21 28 5 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687706191 5 24082897 CTGTT C 356 PASS - - - - - Del - D 24082897 24082905 4 25 418.02 - - 1 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 4 4 5 6 24 27 24 27 5 6 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687713496 5 46166406 TC T 480 PASS - - - - - Del - D 46166406 46166408 1 21 431.868 - - 1 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 2 6 4 9 15 21 15 21 4 9 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687715131 5 54072816 CAG C 300 PASS - - - - - Del - D 54072816 54072836 2 12 269.917 - - 9 1 - - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 3 2 3 17 16 17 16 2 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687716903 5 59652096 GC G 600 PASS PDE4D CCDS47032.1 r.? - - Del intronic D 59652096 59652098 1 36 539.834 - - 1 1 1 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 5 7 5 25 21 25 21 7 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687718948 5 66271372 GA G 300 PASS MAST4 CCDS47225.1 r.? - - Del intronic D 66271372 66271374 1 10 266.907 - - 1 1 1 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 5 15 5 0 0 ./. 1 4 1 4 18 24 18 24 1 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687719366 5 67848170 A AT 300 PASS - - - - - Ins - I 67848170 67848178 1 12 266.907 - - 7 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 2 3 2 4 14 16 14 16 2 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687748738 5 169145426 A AT 300 PASS DOCK2 CCDS4371.1 r.? - - Ins intronic I 169145426 169145436 1 10 266.907 - - 9 1 1 DOCK2|CCDS4371.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK2|CCDS4371.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 1 4 1 5 23 35 23 37 1 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687767377 6 34662271 CTT C 420 PASS C6orf106 CCDS4796.1 r.? - - Del intronic D 34662271 34662276 2 20 377.731 - - 4 1 1 C6orf106|CCDS4796.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf106|CCDS4796.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 3 4 3 24 20 24 20 4 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687781260 6 76842856 GC G 540 PASS - - - - - Del - D 76842856 76842858 1 30 485.655 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 4 6 5 19 23 19 23 6 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687783042 6 82346317 GT G 300 PASS FAM46A ENST00000412306 r.? - - Del intronic D 82346317 82346319 1 12 269.808 - - 1 1 1 FAM46A|ENST00000412306|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM46A|ENST00000412306|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 3 6 19 24 19 24 3 6 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687788597 6 100628209 A AT 300 PASS - - - - - Ins - I 100628209 100628219 1 12 264.39 - - 9 1 1 - - ./. 0 0 0 0 17 9 18 9 0 0 ./. 3 2 4 2 23 21 24 22 4 2 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687800963 6 141483943 TTG T 300 PASS - - - - - Del - D 141483943 141483960 2 10 269.808 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 4 1 4 25 25 25 25 1 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687801949 6 145351106 C CT 300 PASS - - - - - Ins - I 145351106 145351116 1 6 261.981 - - 9 1 - - - ./. 0 0 0 0 13 15 14 15 0 0 ./. 0 5 0 5 19 22 19 22 0 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687828787 7 50627129 T TC 300 PASS DDC CCDS5511.1 r.? - - Ins intronic I 50627129 50627130 1 6 266.811 - - 0 1 1 DDC|CCDS5511.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 DDC|CCDS5511.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 16 0 0 ./. 5 0 5 1 38 33 38 34 5 1 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687830470 7 55051074 G GT 300 PASS - - - - - Ins - I 55051074 55051084 1 10 266.209 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 1 4 31 34 33 34 1 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687861960 7 147964991 TC T 600 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 147964991 147964994 1 35 533.622 - - 2 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 4 7 6 36 31 36 31 7 6 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687869128 8 6912777 G GA 420 PASS DEFA5 CCDS5963.1 r.? - - Ins downstream I 6912777 6912786 1 14 372.427 - - 8 1 1 DEFA5|CCDS5963.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 DEFA5|CCDS5963.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 14 17 14 17 0 0 ./. 6 1 7 8 40 37 40 37 7 8 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687882929 8 51395922 A AT 269 PASS SNTG1 CCDS6147.1 r.? - - Ins intronic I 51395922 51395929 1 12 267.309 - - 6 1 1 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 3 2 4 31 21 31 21 2 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687907377 8 137587605 TG T 300 PASS - - - - - Del - D 137587605 137587607 1 10 269.116 - - 1 1 1 - - ./. 0 0 0 0 6 24 6 24 0 0 ./. 1 4 1 7 16 28 16 28 1 7 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687914195 9 12550129 ATAAG A 420 PASS - - - - - Del - D 12550129 12550136 4 20 378.24 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 3 5 3 14 22 14 22 5 3 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687931566 9 86370517 CA C 420 PASS GKAP1 CCDS35049.1 r.? - - Del intronic D 86370517 86370526 1 18 378.24 - - 8 1 1 GKAP1|CCDS35049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GKAP1|CCDS35049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 2 10 2 32 9 32 9 10 2 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687945907 9 130974212 CTG C 540 PASS DNM1 CCDS43882.1 r.? - - Del intronic D 130974212 130974218 2 24 486.481 - - 2 1 1 DNM1|CCDS43882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNM1|CCDS43882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 12 23 12 0 0 ./. 7 2 7 5 31 23 31 23 7 5 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687948677 9 137268473 T TCTCAGAGAACCAGTGAGACCTGTGCCGCGTCCTCTGTCTATAGAAGGTGATGCTTAGGGAGCA 290 PASS RXRA CCDS35172.1 r.? - - Ins intronic I 137268473 137268499 63 35 156.487 - - 0 1 1 RXRA|CCDS35172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RXRA|CCDS35172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 6 4 0 0 29 24 36 28 6 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687949450 9 139886740 C CA 360 PASS CLIC3 CCDS7021.1 r.? - - Ins downstream I 139886740 139886743 1 15 314.487 - - 2 1 1 CLIC3|CCDS7021.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 C9orf142|CCDS7020.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 8 13 8 14 0 0 ./. 4 2 6 2 19 25 19 25 6 2 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687954227 X 19180025 AAAAC A 449 PASS - - - - - Del - D 19180025 19180049 4 21 430.903 - - 5 1 - - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 6 2 6 2 23 28 23 28 6 2 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687964361 X 67637101 A AT 360 PASS OPHN1 CCDS14388.1 r.? - - Ins intronic I 67637101 67637107 1 15 320.769 - - 5 1 1 OPHN1|CCDS14388.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OPHN1|CCDS14388.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 4 2 4 21 18 22 18 2 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687967710 X 83230560 GT G 420 PASS - - - - - Del - D 83230560 83230564 1 20 379.147 - - 3 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 4 4 6 24 29 24 29 4 6 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687974219 X 113001281 T TA 300 PASS - - - - - Ins - I 113001281 113001291 1 10 258.176 - - 9 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 1 4 1 4 25 35 25 35 1 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687980753 X 140426603 TAC T 276 PASS - - - - - Del - D 140426603 140426621 2 12 270.819 - - 8 1 - - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 3 2 4 28 25 28 25 2 4 1 1 1 1 1 1 1 1 2626878 PD9066a PD9066b 2687982506 X 147203052 G GA 660 PASS - - - - - Ins - I 147203052 147203060 1 40 589.18 - - 7 1 1 - - ./. 0 0 0 0 10 14 10 15 0 0 ./. 4 7 5 10 21 43 21 43 5 10 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662196944 1 40317924 G GTTCA 296 PASS TRIT1 CCDS30681.1 r.? - - Ins intronic I 40317924 40317933 4 20 359.202 - - 2 1 1 TRIT1|CCDS30681.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRIT1|CCDS30681.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 3 6 5 28 22 29 22 6 5 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662224109 1 118084531 ACTC A 420 PASS - - - - - Del - D 118084531 118084540 3 20 375.458 - - 2 1 1 - - ./. 0 0 0 0 4 12 4 12 0 0 ./. 4 3 4 3 25 26 25 26 4 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662236632 1 169123119 T TA 300 PASS NME7 CCDS1277.1 r.? - - Ins intronic I 169123119 169123121 1 6 258.981 - - 1 1 1 NME7|CCDS1277.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NME7|CCDS1277.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 0 5 0 5 14 29 14 29 0 5 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662244985 1 194567645 C CGT 360 PASS - - - - - Ins - I 194567645 194567656 2 12 315.112 - - 5 1 1 - - ./. 0 0 0 0 3 13 3 13 0 0 ./. 1 5 4 6 19 20 19 20 4 6 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662268366 10 6148739 G GT 300 PASS RBM17 CCDS7077.1 r.? - - Ins intronic I 6148739 6148749 1 6 259.986 - - 9 1 1 RBM17|CCDS7077.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBM17|CCDS7077.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 13 26 13 0 0 ./. 5 0 5 0 26 28 27 28 5 0 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662274387 10 20008842 TTC T 300 PASS C10orf112 ENST00000377266 r.? - - Del intronic D 20008842 20008858 2 12 269.619 - - 7 1 1 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 2 3 2 26 23 26 23 3 2 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662293639 10 73685888 T TG 269 PASS - - - - - Ins - I 73685888 73685889 1 12 249.149 - - 0 1 - - - ./. 0 0 0 0 5 13 5 14 0 0 ./. 3 2 0 0 16 23 16 24 3 2 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662305575 10 108119666 ATAT A 300 PASS - - - - - Del - D 108119666 108119690 3 10 269.619 - - 7 1 - - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 1 4 1 23 25 23 25 4 1 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662323594 11 22190631 G GA 360 PASS - - - - - Ins - I 22190631 22190639 1 12 320.385 - - 7 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 1 5 3 5 19 24 20 24 3 5 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662323826 11 22776154 CT C 300 PASS GAS2 CCDS7858.1 r.? - - Del intronic D 22776154 22776164 1 10 267.589 - - 9 1 1 GAS2|CCDS7858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAS2|CCDS7858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 1 4 2 5 36 26 36 26 2 5 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662326471 11 30070390 G GA 420 PASS - - - - - Ins - I 30070390 30070399 1 14 373.782 - - 8 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 1 6 3 6 27 19 27 19 3 6 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662329248 11 37725667 G GT 300 PASS - - - - - Ins - I 37725667 37725675 1 12 266.987 - - 7 1 1 - - ./. 0 0 0 0 13 19 13 20 0 0 ./. 2 3 4 4 26 32 26 33 4 4 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662354466 11 109880404 C CA 300 PASS - - - - - Ins - I 109880404 109880411 1 10 266.987 - - 6 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 1 5 1 23 22 23 22 5 1 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662377330 12 38812289 TA T 360 PASS - - - - - Del - D 38812289 38812298 1 15 323.993 - - 8 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 4 2 4 19 22 19 22 2 4 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662388744 12 70338798 G GA 300 PASS C12orf28 ENST00000299350 r.? - - Ins intronic I 70338798 70338807 1 10 266.984 - - 8 1 1 C12orf28|ENST00000299350|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C12orf28|ENST00000299350|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 1 5 1 30 20 30 20 5 1 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662396503 12 95464995 A AT 389 PASS NR2C1 CCDS9051.1 r.? - - Ins intronic I 95464995 95465000 1 20 342.47 - - 4 1 1 NR2C1|CCDS9051.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NR2C1|CCDS9051.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 4 3 3 4 29 27 30 27 4 4 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662401676 12 109701674 ATAG A 358 PASS ACACB CCDS31898.1 r.? - - Del intronic D 109701674 109701680 3 20 377.992 - - 1 1 1 ACACB|CCDS31898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACACB|CCDS31898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 4 4 4 35 23 35 23 4 4 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662403464 12 114154325 ATTTTCTTTTTTTTT A 290 PASS - - - - - Del - D 114154325 114154344 14 32 539.386 - - 1 1 - - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 3 7 3 7 19 25 19 25 3 7 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662431203 13 67454071 G GA 300 PASS PCDH9 CCDS9443.1 r.? - - Ins intronic I 67454071 67454081 1 12 267.08 - - 9 1 1 PCDH9|CCDS9443.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCDH9|CCDS9443.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 2 3 2 17 28 18 28 3 2 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662444067 13 103664039 CT C 420 PASS - - - - - Del - D 103664039 103664049 1 14 378.969 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 6 1 6 24 30 24 30 1 6 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662457474 14 44455228 A AAT 300 PASS - - - - - Ins - I 44455228 44455229 2 12 264.915 - - 0 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 2 3 0 0 25 19 25 20 2 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662487867 15 37802845 AT A 269 PASS - - - - - Del - D 37802845 37802854 1 6 270.394 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 0 5 1 6 26 26 26 26 1 6 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662500872 15 71492405 CT C 658 PASS THSD4 CCDS10238.2 r.? - - Del intronic D 71492405 71492408 1 49 649.788 - - 2 1 1 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 6 9 6 25 22 25 22 9 6 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662511887 15 101133775 GGT G 360 PASS LINS1 CCDS10385.1 r.? - - Del intronic D 101133775 101133779 2 7 325.195 - - 1 1 1 LINS1|CCDS10385.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LINS1|CCDS10385.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 6 0 6 0 18 22 18 22 6 0 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662522817 16 23504135 TGAAAC T 716 PASS GGA2 CCDS10611.1 r.? - - Del intronic D 23504135 23504141 5 48 758.423 - - 1 1 1 GGA2|CCDS10611.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GGA2|CCDS10611.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 12 3 12 0 0 ./. 3 11 4 12 23 41 23 41 4 12 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662556951 17 32642064 TG T 300 PASS CCL8 CCDS11280.1 r.? - - Del upstream D 32642064 32642066 1 12 270.82 - - 1 1 1 CCL8|CCDS11280.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CCL8|CCDS11280.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 3 3 25 24 25 24 3 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662564670 17 49610333 ATC A 300 PASS - - - - - Del - D 49610333 49610350 2 10 270.82 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 1 4 1 19 20 19 20 4 1 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662571594 17 66427901 A ACCCGTGGGCAGGCTGAGGGGAGGCCCAAGAGAGCCATAACTGCTGGGGACATATGAACGC 414 PASS WIPI1 CCDS11677.1 r.? - - Ins intronic I 66427901 66427909 60 63 245.341 - - 0 1 1 WIPI1|CCDS11677.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WIPI1|CCDS11677.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 18 6 21 0 0 ./. 8 6 0 0 26 24 38 35 8 6 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662580854 18 5036825 C CA 360 PASS - - - - - Ins - I 5036825 5036832 1 16 319.911 - - 6 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 3 4 3 30 26 30 26 4 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662602373 18 69390402 GC G 660 PASS - - - - - Del - D 69390402 69390404 1 42 595.234 - - 1 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 5 6 6 7 19 17 19 17 6 7 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662628399 19 46775881 A AGAGGG 538 PASS - - - - - Ins - I 46775881 46775902 5 35 503.365 - - 4 1 1 - - ./. 0 0 0 0 18 9 19 9 0 0 ./. 4 6 4 7 38 32 39 32 5 7 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662646281 2 31597341 CAG C 300 PASS XDH CCDS1775.1 r.? - - Del intronic D 31597341 31597357 2 12 268.836 - - 7 1 - XDH|CCDS1775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XDH|CCDS1775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 2 3 21 22 21 22 2 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662658592 2 65366823 TA T 300 PASS - - - - - Del - D 65366823 65366833 1 12 258.601 - - 9 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 2 3 3 3 28 33 28 33 3 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662675847 2 120733569 TTA T 300 PASS PTPN4 CCDS2129.1 r.? - - Del intronic D 120733569 120733573 2 12 256.795 - - 1 1 - PTPN4|CCDS2129.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN4|CCDS2129.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 2 12 2 0 0 ./. 2 3 0 0 23 18 23 18 2 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662679974 2 132617582 ATTCT A 320 PASS - - - - - Del - D 132617582 132617589 4 12 322.604 - - 1 1 1 - - ./. 0 0 0 0 8 3 8 3 0 0 ./. 1 5 1 6 22 19 22 19 1 6 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662688548 2 158448950 CACCTT C 449 PASS ACVR1C CCDS2205.1 r.? - - Del intronic D 158448950 158448958 5 21 430.138 - - 1 1 1 ACVR1C|CCDS2205.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACVR1C|CCDS2205.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 6 2 6 2 26 24 26 24 6 2 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662690354 2 164014349 A AG 329 PASS - - - - - Ins - I 164014349 164014350 1 16 307.552 - - 0 1 1 - - ./. 0 0 0 0 13 13 14 13 0 0 ./. 3 3 5 4 32 20 32 21 5 4 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662697059 2 183330767 TTG T 300 PASS PDE1A CCDS2285.1 r.? - - Del intronic D 183330767 183330785 2 12 268.836 - - 8 1 1 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 2 3 2 24 26 24 26 3 2 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662714044 2 232254128 GGT G 300 PASS - - - - - Del - D 232254128 232254143 2 12 267.632 - - 7 1 - - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 3 3 18 23 18 23 3 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662743638 21 10846283 GGAGATGAATGGAAT G 265 PASS - - - - - Del - D 10846283 10846304 14 20 380.535 - - 1 1 1 - - ./. 0 0 0 0 21 21 22 24 0 0 ./. 3 4 2 3 56 47 58 51 3 4 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662758437 21 47355039 CT C 300 PASS PCBP3 CCDS42974.2 r.? - - Del intronic D 47355039 47355041 1 12 271.811 - - 1 1 1 PCBP3|CCDS42974.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCBP3|CCDS42974.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 2 3 3 32 30 32 30 3 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662823520 3 144804245 C CT 480 PASS - - - - - Ins - I 144804245 144804252 1 9 423.732 - - 6 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 8 0 9 2 24 21 24 21 9 2 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662833918 3 176837868 C CCATA 358 PASS TBL1XR1 CCDS46961.1 r.? - - Ins intronic I 176837868 176837869 4 18 359.026 - - 0 1 1 TBL1XR1|CCDS46961.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TBL1XR1|CCDS46961.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 7 9 8 0 0 ./. 2 5 2 5 15 25 16 25 2 5 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662862761 4 63330877 AC A 300 PASS - - - - - Del - D 63330877 63330879 1 12 269.315 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 2 3 15 13 15 13 2 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662923046 5 45083610 CA C 360 PASS - - - - - Del - D 45083610 45083618 1 15 323.464 - - 7 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 4 2 5 2 30 19 30 19 5 2 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662928117 5 64492459 CT C 360 PASS ADAMTS6 CCDS3983.2 r.? - - Del intronic D 64492459 64492469 1 7 323.464 - - 9 1 1 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 0 6 0 23 23 23 23 6 0 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2662974496 6 18866475 TGTAA T 269 PASS - - - - - Del - D 18866475 18866482 4 12 269.776 - - 1 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 3 2 3 3 24 20 24 20 3 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663000662 6 93247640 C CA 480 PASS - - - - - Ins - I 93247640 93247648 1 24 426.825 - - 7 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 3 6 4 20 17 20 17 6 4 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663011276 6 131086848 CA C 480 PASS - - - - - Del - D 131086848 131086857 1 24 431.641 - - 8 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 3 5 4 7 15 20 15 20 4 7 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663102972 8 68936190 A AT 480 PASS PREX2 CCDS6201.1 r.? - - Ins intronic I 68936190 68936199 1 21 427.223 - - 8 1 1 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 2 6 3 21 19 21 19 6 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663104665 8 74069365 CGT C 300 PASS - - - - - Del - D 74069365 74069384 2 12 270.025 - - 9 1 - - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 2 3 5 23 26 23 26 3 5 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663109712 8 92100462 A AT 480 PASS OTUD6B CCDS6253.2 r.? - - Ins downstream I 92100462 92100468 1 21 427.223 - - 5 1 1 OTUD6B|CCDS6253.2|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 OTUD6B|CCDS6253.2|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 8 11 9 11 0 0 ./. 2 6 2 7 27 19 28 19 2 7 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663109765 8 92261723 ATC A 300 PASS SLC26A7 CCDS6254.1 r.? - - Del intronic D 92261723 92261743 2 12 270.025 - - 9 1 1 SLC26A7|CCDS6254.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC26A7|CCDS6254.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 3 2 3 33 25 33 25 2 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663124534 8 138769086 CT C 360 PASS - - - - - Del - D 138769086 138769089 1 16 324.03 - - 2 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 3 6 3 22 15 22 15 6 3 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663132182 9 14315508 GGCGGGGCGGGGCCGCGGCGCGCCCGGGGCT G 278 PASS NFIB CCDS6474.1 r.? - - Del upstream D 14315508 14315549 30 20 534.595 - - 1 1 1 NFIB|CCDS6474.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 NFIB|CCDS6474.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 5 7 5 0 0 ./. 1 9 1 5 11 23 12 25 2 9 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663137229 9 29532639 AG A 600 PASS - - - - - Del - D 29532639 29532641 1 20 540.615 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 9 1 9 4 23 17 23 17 9 4 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663138947 9 34029122 T TA 420 PASS UBAP2 CCDS6547.1 r.? - - Ins intronic I 34029122 34029131 1 18 374.216 - - 8 1 1 UBAP2|CCDS6547.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 UBAP2|CCDS6547.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 21 10 21 0 0 ./. 2 5 3 10 28 53 28 53 3 10 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663182105 X 45459167 C CT 660 PASS - - - - - Ins - I 45459167 45459171 1 42 588.309 - - 3 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 6 5 6 16 22 17 22 5 6 1 1 1 1 1 1 1 1 2574736 PD9590a PD9590b 2663188687 X 76294272 G GT 300 PASS - - - - - Ins - I 76294272 76294281 1 12 267.413 - - 8 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 3 3 4 31 28 31 28 3 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692337845 1 6091799 AAT A 329 PASS KCNAB2 CCDS55.1 r.? - - Del upstream D 6091799 6091803 2 7 310.902 - - 1 1 1 KCNAB2|CCDS55.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KCNAB2|CCDS55.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 0 7 0 21 17 21 17 7 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692345212 1 27101518 TCCTAG T 360 PASS ARID1A CCDS285.1 r.5172_5176delCCUAG c.4801_4805delCCTAG p.P1601fs*45 Del frameshift D 27101518 27101525 5 12 322.341 - - 1 1 1 ARID1A|CCDS285.1|r.5172_5176delCCUAG|c.4801_4805delCCTAG|p.P1601fs*45|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ARID1A|CCDS285.1|r.5172_5176delCCUAG|c.4801_4805delCCTAG|p.P1601fs*45|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 5 7 5 0 0 ./. 5 1 7 1 29 18 29 18 7 1 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692347322 1 33475575 CAG C 268 PASS AK2 CCDS373.1 r.1594_1595delCU c.? p.? Del 3'UTR variant D 33475575 33475578 2 9 429.788 - - 1 1 1 AK2|CCDS373.1|r.1594_1595delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 AK2|CCDS373.1|r.1594_1595delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 8 12 8 0 0 ./. 8 0 9 0 39 37 39 37 9 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692360055 1 75203800 AC A 300 PASS TYW3 CCDS666.1 r.? - - Del intronic D 75203800 75203802 1 10 265.005 - - 1 1 1 TYW3|CCDS666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TYW3|CCDS666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 1 4 2 4 24 24 24 24 2 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692363533 1 85922528 A AC 480 PASS DDAH1 CCDS705.1 r.? - - Ins intronic I 85922528 85922536 1 25 423.767 - - 7 1 1 DDAH1|CCDS705.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DDAH1|CCDS705.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 4 8 7 24 34 24 36 8 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692372222 1 114172385 C CCT 360 PASS MAGI3 CCDS860.1 r.? - - Ins intronic I 114172385 114172389 2 16 308.493 - - 1 1 - MAGI3|CCDS860.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAGI3|CCDS860.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 8 4 25 20 25 20 8 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692378006 1 148537493 TG T 319 PASS - - - - - Del - D 148537493 148537495 1 10 483.511 - - 1 1 1 - - ./. 0 0 0 0 23 23 23 23 0 0 ./. 9 0 9 0 54 48 54 48 9 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692382502 1 161939244 G GA 720 PASS - - - - - Ins - I 161939244 161939252 1 49 625.415 - - 7 1 1 - - ./. 0 0 0 0 25 16 25 16 0 0 ./. 6 6 8 6 30 34 31 34 8 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692394066 1 199134674 T TA 360 PASS - - - - - Ins - I 199134674 199134683 1 15 318.728 - - 8 1 1 - - ./. 0 0 0 0 25 17 25 17 0 0 ./. 2 4 6 7 30 30 30 31 6 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692397420 1 209695210 G GACGC 629 PASS - - - - - Ins - I 209695210 209695215 4 40 563.263 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 7 6 8 25 30 25 30 6 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692405441 1 234681158 ACCTCTCCCT A 261 PASS - - - - - Del - D 234681158 234681173 9 28 483.511 - - 1 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 6 3 8 4 36 12 36 12 8 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692410017 1 246848143 CTGA C 476 PASS - - - - - Del - D 246848143 246848148 3 32 535.428 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 7 3 8 5 29 24 29 24 8 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692414527 10 8952442 G GTC 1020 PASS - - - - - Ins - I 8952442 8952444 2 88 891.795 - - 0 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 7 10 7 11 26 25 26 25 7 11 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692417325 10 16225378 TA T 600 PASS - - - - - Del - D 16225378 16225382 1 36 538.15 - - 3 1 1 - - ./. 0 0 0 0 10 28 10 28 0 0 ./. 5 5 11 6 35 35 35 35 11 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692436752 10 73985363 TA T 300 PASS C10orf104 CCDS7314.1 r.? - - Del intronic D 73985363 73985369 1 12 268.172 - - 5 1 1 C10orf104|CCDS7314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf104|CCDS7314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 2 10 2 33 14 33 14 10 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692451786 10 121626137 C CA 300 PASS C10orf119 CCDS7617.1 r.? - - Ins intronic I 121626137 121626146 1 12 266.366 - - 8 1 1 C10orf119|CCDS7617.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C10orf119|CCDS7617.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 21 12 21 0 0 ./. 2 3 4 8 16 32 16 33 4 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692451811 10 121710107 AGT A 269 PASS - - - - - Del - D 121710107 121710124 2 12 268.774 - - 8 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 2 3 3 2 41 30 41 30 3 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692463471 11 20606614 A AAT 480 PASS - - - - - Ins - I 20606614 20606615 2 9 406.023 - - 0 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 0 8 0 1 26 31 26 31 0 9 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692469037 11 36506075 TCA T 420 PASS TRAF6 CCDS7901.1 r.? - - Del downstream D 36506075 36506080 2 18 377.923 - - 2 1 1 TRAF6|CCDS7901.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TRAF6|CCDS7901.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 18 17 18 0 0 ./. 2 5 3 9 26 30 26 30 3 9 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692481935 11 76495789 GT G 389 PASS TSKU CCDS8246.1 r.? - - Del intronic D 76495789 76495791 1 8 361.065 - - 1 1 1 TSKU|CCDS8246.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TSKU|CCDS8246.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 6 16 6 0 0 ./. 0 7 2 11 62 68 62 68 2 11 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692482210 11 76968548 TA T 300 PASS GDPD4 CCDS8249.1 r.? - - Del intronic D 76968548 76968550 1 10 266.332 - - 1 1 1 GDPD4|CCDS8249.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GDPD4|CCDS8249.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 6 18 6 0 0 ./. 1 4 1 12 96 79 96 79 1 12 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692498008 11 132620760 C CA 660 PASS ENSG00000183715 CCDS8492.1 r.? - - Ins intronic I 132620760 132620761 1 42 587.256 - - 0 1 1 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 12 22 12 0 0 ./. 5 6 7 7 21 18 21 18 7 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692501491 12 7761729 G GA 660 PASS - - - - - Ins - I 7761729 7761739 1 42 579.781 - - 9 1 1 - - ./. 0 0 0 0 18 26 18 26 0 0 ./. 5 6 10 9 38 41 39 41 10 9 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692502076 12 8644425 GT G 720 PASS - - - - - Del - D 8644425 8644431 1 48 646.937 - - 5 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 7 5 8 6 34 45 34 45 8 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692505907 12 18045536 T TA 420 PASS - - - - - Ins - I 18045536 18045545 1 18 373.166 - - 8 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 5 2 6 6 27 36 27 36 6 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692506487 12 19624054 G GT 300 PASS AEBP2 CCDS44842.1 r.? - - Ins intronic I 19624054 19624064 1 10 255.71 - - 9 1 1 AEBP2|CCDS44842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AEBP2|CCDS44842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 13 10 0 0 ./. 1 4 2 4 45 41 45 41 2 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692510277 12 29233669 T TA 300 PASS - - - - - Ins - I 29233669 29233679 1 12 266.547 - - 9 1 1 - - ./. 0 0 0 0 11 25 11 25 0 0 ./. 3 2 3 2 45 50 46 50 3 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692512786 12 38392764 CTT C 360 PASS - - - - - Del - D 38392764 38392770 2 7 323.469 - - 5 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 0 7 1 37 45 37 45 7 1 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692515212 12 44864897 G GT 360 PASS - - - - - Ins - I 44864897 44864907 1 15 319.856 - - 9 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 4 2 6 4 47 35 48 35 6 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692515700 12 46628232 T TC 269 PASS SLC38A1 CCDS41774.1 r.? - - Ins intronic I 46628232 46628233 1 12 251.495 - - 0 1 - SLC38A1|CCDS41774.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC38A1|CCDS41774.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 5 2 37 41 37 41 5 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692520954 12 60271033 G GA 300 PASS - - - - - Ins - I 60271033 60271043 1 12 266.547 - - 9 1 1 - - ./. 0 0 0 0 24 17 24 18 0 0 ./. 3 2 3 2 38 52 38 52 3 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692524032 12 68905751 AG A 300 PASS - - - - - Del - D 68905751 68905753 1 6 264.741 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 0 6 0 47 25 47 25 6 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692526247 12 75432831 TTTCA T 1225 PASS KCNC2 CCDS9005.1 r.? - - Del downstream D 75432831 75432841 4 154 1239.96 - - 2 1 1 KCNC2|CCDS9005.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KCNC2|CCDS9005.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 26 17 26 0 0 ./. 10 13 15 17 28 44 28 44 15 17 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692527579 12 79469107 TTC T 300 PASS SYT1 CCDS9017.1 r.? - - Del intronic D 79469107 79469125 2 10 269.557 - - 8 1 1 SYT1|CCDS9017.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SYT1|CCDS9017.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 20 17 20 0 0 ./. 1 4 1 4 33 42 33 42 1 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692529557 12 85036573 TA T 660 PASS - - - - - Del - D 85036573 85036575 1 36 592.424 - - 1 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 8 6 12 35 45 35 45 6 12 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692530092 12 86893865 G GA 300 PASS - - - - - Ins - I 86893865 86893875 1 12 266.547 - - 9 1 1 - - ./. 0 0 0 0 25 17 25 17 0 0 ./. 2 3 2 3 33 47 33 47 2 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692530821 12 89524721 GCA G 300 PASS - - - - - Del - D 89524721 89524740 2 12 265.343 - - 9 1 - - - ./. 0 0 0 0 18 5 18 5 0 0 ./. 2 3 3 3 49 38 49 38 3 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692532043 12 92918583 TA T 540 PASS - - - - - Del - D 92918583 92918588 1 30 483.999 - - 4 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 4 5 8 34 40 34 40 5 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692537683 12 107339714 ATG A 665 PASS - - - - - Del - D 107339714 107339718 2 45 646.937 - - 1 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 8 4 9 6 36 24 36 24 9 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692540721 12 115466522 C CA 540 PASS - - - - - Ins - I 115466522 115466531 1 10 477.376 - - 8 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 9 0 13 5 51 45 51 45 13 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692542978 12 120527179 CGT C 300 PASS CCDC64 CCDS41845.1 r.? - - Del intronic D 120527179 120527195 2 12 266.547 - - 7 1 - CCDC64|CCDS41845.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC64|CCDS41845.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 11 8 0 0 ./. 3 2 5 3 40 41 42 43 5 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692547601 12 131266348 T TG 598 PASS - - - - - Ins - I 131266348 131266354 1 40 577.974 - - 5 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 4 7 0 1 51 38 51 41 4 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692558037 13 46694379 CAGGAAGCCAGGAAGCCTCCTGTGTTCTCTGCAGG C 435 PASS - - - - - Del - D 46694379 46694417 34 72 812.789 - - 1 1 1 - - ./. 0 0 0 0 22 24 22 24 0 0 ./. 8 7 3 5 18 26 23 28 8 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692560635 13 55933659 CT C 660 PASS - - - - - Del - D 55933659 55933663 1 42 596.045 - - 3 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 6 5 7 24 22 24 22 5 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692563299 13 64381169 CA C 327 PASS - - - - - Del - D 64381169 64381179 1 20 378.7 - - 9 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 3 4 3 17 22 17 22 4 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692565949 13 73475065 CAGGAG C 745 PASS PIBF1 CCDS31991.1 r.? - - Del intronic D 73475065 73475072 5 60 810.983 - - 1 1 1 PIBF1|CCDS31991.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIBF1|CCDS31991.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 11 4 13 11 29 11 29 4 13 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692569982 13 87101116 GTCTTT G 360 PASS - - - - - Del - D 87101116 87101126 5 15 324.514 - - 1 1 1 - - ./. 0 0 0 0 27 12 27 12 0 0 ./. 4 2 4 3 20 12 20 12 4 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692577196 13 111686704 A AT 389 PASS - - - - - Ins - I 111686704 111686707 1 20 365.454 - - 2 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 4 3 6 16 23 16 23 3 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692577721 13 113911158 AT A 840 PASS CUL4A CCDS9533.1 r.? - - Del intronic D 113911158 113911161 1 64 758.603 - - 2 1 1 CUL4A|CCDS9533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUL4A|CCDS9533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 7 7 12 7 27 23 27 23 12 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692584525 14 37736705 A AG 300 PASS MIPOL1 CCDS9664.1 r.? - - Ins intronic I 37736705 37736706 1 12 263.617 - - 0 1 1 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 14 16 0 0 ./. 2 3 3 5 32 39 32 39 3 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692594086 14 68452212 G GT 540 PASS RAD51L1 CCDS9789.1 r.? - - Ins intronic I 68452212 68452219 1 28 482.096 - - 6 1 1 RAD51L1|CCDS9789.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAD51L1|CCDS9789.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 15 19 15 0 0 ./. 3 6 5 6 22 26 22 26 5 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692598466 14 80704861 G GA 300 PASS AC010849.1 ENST00000504475 r.? - - Ins intronic I 80704861 80704871 1 12 267.831 - - 9 1 1 AC010849.1|ENST00000504475|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC010849.1|ENST00000504475|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 2 3 2 3 19 39 19 39 2 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692599818 14 85308999 CA C 660 PASS - - - - - Del - D 85308999 85309004 1 42 595.851 - - 4 1 1 - - ./. 0 0 0 0 2 13 2 13 0 0 ./. 5 6 6 6 24 19 24 19 6 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692601007 14 88954685 A AGGCGAACACTGCCCACTGTAGT 261 PASS PTPN21 CCDS9884.1 r.? - - Ins intronic I 88954685 88954708 22 30 364.694 - - 1 1 1 PTPN21|CCDS9884.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPN21|CCDS9884.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 5 2 3 18 28 20 31 4 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692603725 14 96830797 ACAGTGAATTAAGACG A 261 PASS ATG2B CCDS9944.2 r.? - - Del upstream D 96830797 96830813 15 30 487.515 - - 1 1 1 ATG2B|CCDS9944.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C14orf129|CCDS32153.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 24 17 24 0 0 ./. 4 5 4 5 27 32 27 32 4 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692604226 14 98492249 GCA G 300 PASS - - - - - Del - D 98492249 98492266 2 10 266.627 - - 8 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 4 1 4 1 34 27 34 27 4 1 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692604609 14 100013198 AGAGTTC A 290 PASS CCDC85C CCDS45161.1 r.? - - Del intronic D 100013198 100013205 6 35 541.683 - - 1 1 1 CCDC85C|CCDS45161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC85C|CCDS45161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 6 7 7 21 25 21 25 7 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692606318 14 105205106 T TG 300 PASS ADSSL1 CCDS9991.1 r.? - - Ins intronic I 105205106 105205112 1 12 267.831 - - 5 1 1 ADSSL1|CCDS9991.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADSSL1|CCDS9991.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 6 5 25 31 25 31 6 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692609496 15 24601578 CA C 600 PASS - - - - - Del - D 24601578 24601584 1 32 541.925 - - 5 1 1 - - ./. 0 0 0 0 23 22 23 22 0 0 ./. 7 3 9 4 54 34 54 34 9 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692610147 15 26479761 A AG 720 PASS - - - - - Ins - I 26479761 26479767 1 48 643.085 - - 5 1 1 - - ./. 0 0 0 0 10 24 10 26 0 0 ./. 5 7 7 10 26 29 26 29 7 10 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692612732 15 34802830 AC A 300 PASS - - - - - Del - D 34802830 34802832 1 12 266.146 - - 1 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 3 2 4 2 32 29 32 29 4 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692621971 15 62217651 TAACCTTAATTATA T 261 PASS VPS13C CCDS32257.1 r.6674_6683+3delUAUAAUUAAGguu c.6600_6609+3delTATAATTAAGgtt p.? Del ess splice D 62217651 62217667 13 24 487.732 - - 1 1 1 VPS13C|CCDS32257.1|r.6674_6683+3delUAUAAUUAAGguu|c.6600_6609+3delTATAATTAAGgtt|p.?|protein_coding:CDS:exon:extended_cis_splice_site:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:0000147:SO:CGPX06:SO:0000159:SO:0001577:SO:0001576 VPS13C|CCDS32257.1|r.6674_6683+3delUAUAAUUAAGguu|c.6600_6609+3delTATAATTAAGgtt|p.?|protein_coding:CDS:exon:extended_cis_splice_site:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:0000147:SO:CGPX06:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 25 14 25 14 0 0 ./. 2 7 4 7 20 21 20 21 4 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692631106 15 90682454 C CA 411 PASS - - - - - Ins - I 90682454 90682463 1 20 375.133 - - 8 1 1 - - ./. 0 0 0 0 13 13 14 13 0 0 ./. 3 4 6 11 36 41 37 41 6 11 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692649129 16 46463342 T TA 308 PASS - - - - - Ins - I 46463342 46463351 1 50 696.051 - - 8 1 1 - - ./. 0 0 0 0 95 57 95 58 0 0 ./. 9 4 9 4 121 96 122 96 9 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692656199 16 69539015 AG A 300 PASS - - - - - Del - D 69539015 69539017 1 12 264.1 - - 1 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 3 7 9 65 79 65 79 7 9 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692657256 16 70633369 CCTG C 569 PASS - - - - - Del - D 70633369 70633374 3 27 539.036 - - 1 1 1 - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 2 8 7 7 106 140 106 141 7 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692682544 17 52435572 AAGCCATTC A 464 PASS - - - - - Del - D 52435572 52435582 8 77 863.789 - - 1 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 10 6 10 10 25 31 25 31 10 10 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692707288 18 45460619 GAC G 300 PASS SMAD2 CCDS11934.1 r.? - - Del upstream D 45460619 45460638 2 12 269.743 - - 9 1 - SMAD2|CCDS11934.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SMAD2|CCDS11934.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 3 2 35 36 35 36 4 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692707652 18 46663652 CAG C 604 PASS DYM CCDS11937.1 r.? - - Del intronic D 46663652 46663656 2 48 650.273 - - 1 1 1 DYM|CCDS11937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DYM|CCDS11937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 7 5 8 5 39 33 39 33 8 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692710874 18 55993305 T TGA 720 PASS NEDD4L CCDS45872.1 r.? - - Ins intronic I 55993305 55993308 2 48 635.221 - - 1 1 1 NEDD4L|CCDS45872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NEDD4L|CCDS45872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 7 5 8 5 44 40 44 40 8 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692717828 18 76168671 A AG 540 PASS - - - - - Ins - I 76168671 76168674 1 28 480.48 - - 2 1 1 - - ./. 0 0 0 0 19 12 19 13 0 0 ./. 3 6 5 6 12 25 12 25 5 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692720134 19 4683420 CA C 480 PASS DPP9 CCDS45928.1 r.? - - Del intronic D 4683420 4683424 1 24 424.085 - - 3 1 1 DPP9|CCDS45928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP9|CCDS45928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 5 5 7 28 18 28 18 5 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692730835 19 33369876 A AAT 300 PASS CCDC123 CCDS32987.1 r.? - - Ins downstream I 33369876 33369878 2 10 265.053 - - 0 1 1 CCDC123|CCDS32987.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 CCDC123|CCDS32987.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 1 4 3 34 28 35 30 4 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692731974 19 36540959 A AC 269 PASS WDR62 CCDS46059.1 r.? - - Ins upstream I 36540959 36540960 1 6 244.583 - - 0 1 - WDR62|CCDS46059.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 THAP8|CCDS33000.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 5 0 7 1 25 28 25 28 7 1 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692739917 19 55946254 ATGTGGTGTG A 336 PASS SHISA7 CCDS46193.1 r.? - - Del intronic D 55946254 55946277 9 40 628.301 - - 2 1 - SHISA7|CCDS46193.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHISA7|CCDS46193.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 9 3 7 7 32 24 33 24 9 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692741218 2 109141 CT C 540 PASS - - - - - Del - D 109141 109143 1 24 483.089 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 7 2 9 2 29 19 29 19 9 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692744472 2 10724488 CACAA C 718 PASS NOL10 CCDS1673.2 r.? - - Del intronic D 10724488 10724498 4 54 697.461 - - 2 1 1 NOL10|CCDS1673.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOL10|CCDS1673.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 5 8 5 8 34 28 34 28 5 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692745017 2 12152632 AGTA ATG 780 PASS - - - - - Complex - DI 12152633 12152635 3 54 0 - - 0 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 5 8 0 0 21 38 21 38 5 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692747214 2 19292718 C CA 660 PASS - - - - - Ins - I 19292718 19292728 1 42 581.546 - - 9 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 5 6 8 6 30 29 30 31 8 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692747890 2 21643257 ATC A 300 PASS - - - - - Del - D 21643257 21643276 2 12 266.911 - - 9 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 2 4 2 32 29 32 29 4 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692750878 2 30384880 TCCTTGG T 406 PASS YPEL5 CCDS1771.1 r.? - - Del downstream D 30384880 30384887 6 63 752.409 - - 1 1 1 YPEL5|CCDS1771.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 YPEL5|CCDS1771.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 18 19 18 19 0 0 ./. 6 8 7 9 17 29 17 29 7 9 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692751513 2 32380120 GTTTAT G 658 PASS SPAST CCDS1778.1 r.2532_2536delUUUAU c.? p.? Del 3'UTR variant D 32380120 32380129 5 49 644.922 - - 1 1 1 SPAST|CCDS1778.1|r.2532_2536delUUUAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SPAST|CCDS1778.1|r.2532_2536delUUUAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 24 12 24 13 0 0 ./. 6 6 9 6 34 28 34 31 9 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692770583 2 95362616 T TACTG 326 PASS - - - - - Ins - I 95362616 95362620 4 15 718.694 - - 0 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 14 0 14 0 36 19 36 19 14 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692773609 2 105707533 GA G 360 PASS MRPS9 CCDS2065.1 r.? - - Del intronic D 105707533 105707535 1 12 322.461 - - 1 1 1 MRPS9|CCDS2065.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRPS9|CCDS2065.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 1 5 1 6 17 24 17 24 1 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692776490 2 116122172 GTA G 269 PASS DPP10 CCDS46400.1 r.? - - Del intronic D 116122172 116122177 2 12 268.717 - - 2 1 1 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 24 24 24 0 0 ./. 2 3 3 5 36 36 36 36 3 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692782444 2 133644839 ATTTTTATTTTATCTATCATCTATCTATCCATCCACCCATAGCAACT A 300 PASS NCKAP5 CCDS46418.1 r.? - - Del intronic D 133644839 133644889 46 12 268.717 - - 1 1 1 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 18 23 18 0 0 ./. 3 2 0 0 19 34 22 36 3 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692798652 2 186611494 AAC A 360 PASS FSIP2 ENST00000424728 r.717_718delAC c.717_718delAC p.T241fs*8 Del frameshift D 186611494 186611502 2 12 321.257 - - 3 1 1 FSIP2|ENST00000424728|r.717_718delAC|c.717_718delAC|p.T241fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 FSIP2|ENST00000424728|r.717_718delAC|c.717_718delAC|p.T241fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 1 6 2 29 25 29 25 6 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692802568 2 199833080 TC T 540 PASS - - - - - Del - D 199833080 199833083 1 28 480.681 - - 2 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 6 3 8 4 31 21 31 21 8 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692805180 2 207479559 G GT 377 PASS ADAM23 CCDS2369.1 r.? - - Ins intronic I 207479559 207479567 1 20 368.378 - - 7 1 1 ADAM23|CCDS2369.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAM23|CCDS2369.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 9 22 9 0 0 ./. 3 4 5 7 38 22 38 22 5 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692806584 2 212278136 TAAG T 300 PASS ERBB4 CCDS2394.1 r.? - - Del intronic D 212278136 212278147 3 12 268.717 - - 3 1 1 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 2 3 3 4 27 20 27 20 3 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692806726 2 212646931 AT A 300 PASS ERBB4 CCDS2394.1 r.? - - Del intronic D 212646931 212646940 1 10 268.115 - - 8 1 1 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 1 4 1 4 29 38 29 38 1 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692815555 2 240010320 CGT C 300 PASS HDAC4 CCDS2529.1 r.? - - Del intronic D 240010320 240010336 2 10 268.717 - - 7 1 1 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 1 4 1 4 35 35 35 35 1 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692827106 20 31722269 T TG 840 PASS - - - - - Ins - I 31722269 31722271 1 60 746.476 - - 1 1 1 - - ./. 0 0 0 0 18 5 18 5 0 0 ./. 9 5 11 7 34 22 34 22 11 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692827873 20 33175232 AT A 780 PASS PIGU CCDS13239.1 r.? - - Del intronic D 33175232 33175234 1 56 701.37 - - 1 1 1 PIGU|CCDS13239.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIGU|CCDS13239.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 6 7 8 13 243 220 243 220 8 13 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692828523 20 33737321 AG A 300 PASS EDEM2 CCDS13247.1 r.? - - Del upstream D 33737321 33737323 1 6 245.999 - - 1 1 1 EDEM2|CCDS13247.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 EDEM2|CCDS13247.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 3 8 3 0 0 ./. 5 0 12 0 153 70 153 70 12 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692828732 20 33942212 TG T 269 PASS UQCC CCDS13252.1 r.? - - Del intronic D 33942212 33942214 1 6 250.214 - - 1 1 1 UQCC|CCDS13252.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UQCC|CCDS13252.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 0 22 0 107 129 107 129 22 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692829524 20 34595079 TCAGCC T 356 PASS C20orf152 CCDS13270.1 r.? - - Del intronic D 34595079 34595085 5 9 433.094 - - 1 1 1 C20orf152|CCDS13270.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C20orf152|CCDS13270.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 0 8 0 8 90 176 90 176 0 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692829741 20 34836275 TG T 300 PASS C20orf4 CCDS13273.1 r.? - - Del intronic D 34836275 34836277 1 6 260.449 - - 1 1 1 C20orf4|CCDS13273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C20orf4|CCDS13273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 25 11 25 0 0 ./. 5 0 13 0 158 176 158 176 13 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692829891 20 35090151 T TCCGC 296 PASS DLGAP4 CCDS13275.1 r.2_3insccgc c.? p.? Ins 5'UTR variant I 35090151 35090176 4 8 354.273 - - 6 1 - DLGAP4|CCDS13275.1|r.2_3insccgc|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 DLGAP4|CCDS13275.1|r.2_3insccgc|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 1 11 2 11 0 0 ./. 0 7 0 14 22 92 27 93 0 15 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692834729 20 50539716 AC A 960 PASS - - - - - Del - D 50539716 50539718 1 81 843.912 - - 1 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 8 8 15 11 200 139 200 139 15 11 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692835201 20 50976274 TTATATCA T 377 PASS - - - - - Del - D 50976274 50976288 7 54 703.778 - - 1 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 5 8 7 10 202 133 202 133 7 10 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692835675 20 51664848 GGA G 600 PASS TSHZ2 CCDS33490.1 r.? - - Del intronic D 51664848 51664868 2 32 540.766 - - 9 1 1 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 3 7 7 9 177 174 177 174 7 9 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692835799 20 51841394 A AG 480 PASS TSHZ2 CCDS33490.1 r.? - - Ins intronic I 51841394 51841395 1 16 422.859 - - 0 1 - TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 25 11 25 0 0 ./. 7 1 11 1 130 157 133 158 11 1 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692837083 20 53130320 A AT 689 PASS DOK5 CCDS13446.1 r.? - - Ins intronic I 53130320 53130326 1 45 641.213 - - 5 1 1 DOK5|CCDS13446.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOK5|CCDS13446.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 28 21 28 0 0 ./. 8 4 14 7 159 107 162 108 14 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692837943 20 54730928 CTG C 300 PASS - - - - - Del - D 54730928 54730932 2 12 270.684 - - 1 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 2 5 4 97 115 97 116 5 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692839000 20 56021269 TGA T 480 PASS - - - - - Del - D 56021269 56021284 2 21 433.094 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 2 10 4 177 168 177 168 10 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692839080 20 56134367 TC T 629 PASS PCK1 CCDS13460.1 r.? - - Del upstream D 56134367 56134371 1 40 594.3 - - 3 1 1 PCK1|CCDS13460.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PCK1|CCDS13460.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 7 10 12 191 186 191 186 10 12 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692841966 20 62341040 A AT 420 PASS ARFRP1 CCDS46630.1 r.? - - Ins upstream I 62341040 62341049 1 18 371.733 - - 8 1 1 ARFRP1|CCDS46630.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ZGPAT|CCDS13534.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 5 4 7 52 70 52 72 4 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692846872 21 15455372 T TA 279 PASS - - - - - Ins - I 15455372 15455381 1 24 429.789 - - 8 1 1 - - ./. 0 0 0 0 14 10 14 11 0 0 ./. 5 3 6 5 31 31 31 31 6 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692859924 22 17745499 GTC G 300 PASS - - - - - Del - D 17745499 17745516 2 10 265.42 - - 8 1 - - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 1 4 2 32 38 32 38 4 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692875036 3 7908085 ATACT A 327 PASS - - - - - Del - D 7908085 7908092 4 14 376.892 - - 1 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 6 1 6 1 16 2 16 2 6 1 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692877576 3 15557044 CA C 360 PASS COLQ CCDS33709.1 r.? - - Del intronic D 15557044 15557046 1 12 323.05 - - 1 1 1 COLQ|CCDS33709.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COLQ|CCDS33709.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 5 4 5 19 30 19 30 4 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692878094 3 17038081 C CT 540 PASS PLCL2 CCDS33713.1 r.? - - Ins intronic I 17038081 17038083 1 30 479.156 - - 1 1 1 PLCL2|CCDS33713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PLCL2|CCDS33713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 5 4 8 4 22 26 22 26 8 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692884977 3 40539473 C CT 960 PASS RNU5B-2P ENST00000363036 r.? - - Ins downstream I 40539473 40539482 1 81 851.232 - - 8 1 1 RNU5B-2P|ENST00000363036|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 RNU5B-2P|ENST00000363036|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 ./. 0 0 0 0 16 13 16 13 0 0 ./. 8 8 10 8 32 34 33 34 10 9 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692893647 3 68623669 C CA 449 PASS - - - - - Ins - I 68623669 68623676 1 24 416.886 - - 6 1 1 - - ./. 0 0 0 0 19 23 19 23 0 0 ./. 3 5 6 9 23 31 23 31 6 9 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692906352 3 109766147 AAGAG A 420 PASS - - - - - Del - D 109766147 109766157 4 20 376.892 - - 4 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 3 5 5 29 27 29 27 5 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692915574 3 140616733 TGC T 300 PASS - - - - - Del - D 140616733 140616737 2 10 268.606 - - 1 1 - - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 1 4 1 5 25 38 25 38 1 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692915588 3 140693709 GT G 600 PASS SLC25A36 CCDS3114.1 r.? - - Del intronic D 140693709 140693712 1 32 538.417 - - 2 1 1 SLC25A36|CCDS3114.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC25A36|CCDS3114.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 19 8 19 0 0 ./. 3 7 4 10 18 29 18 29 4 10 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692920807 3 157835102 TTG T 720 PASS RSRC1 CCDS3181.1 r.? - - Del intronic D 157835102 157835105 2 48 646.1 - - 1 1 1 RSRC1|CCDS3181.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RSRC1|CCDS3181.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 21 19 21 0 0 ./. 7 5 12 7 28 19 28 19 12 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692925412 3 173093272 ATC A 300 PASS - - - - - Del - D 173093272 173093292 2 6 269.208 - - 9 1 1 - - ./. 0 0 0 0 24 16 24 16 0 0 ./. 5 0 5 0 41 15 41 15 5 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692927411 3 179325134 G GT 600 PASS MRPL47 CCDS3232.1 r.? - - Ins upstream I 179325134 179325141 1 35 531.794 - - 6 1 1 MRPL47|CCDS3232.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 NDUFB5|CCDS3234.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 11 21 11 0 0 ./. 6 4 8 6 32 28 33 28 8 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692961379 4 86334479 CA C 300 PASS - - - - - Del - D 86334479 86334489 1 12 269.12 - - 9 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 2 3 2 3 36 28 36 28 2 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692981921 4 155165464 GT G 420 PASS DCHS2 CCDS3785.1 r.? - - Del intronic D 155165464 155165466 1 14 376.768 - - 1 1 1 DCHS2|CCDS3785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCHS2|CCDS3785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 29 17 29 0 0 ./. 1 6 3 8 25 28 25 28 3 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692985942 4 167167558 CT C 360 PASS - - - - - Del - D 167167558 167167565 1 15 322.944 - - 6 1 1 - - ./. 0 0 0 0 21 23 21 23 0 0 ./. 4 2 6 4 25 26 25 26 6 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692990595 4 180745210 C CA 747 PASS - - - - - Ins - I 180745210 180745217 1 63 740.291 - - 6 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 6 8 8 9 27 28 28 28 8 9 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2692996788 5 3139434 CAT C 269 PASS - - - - - Del - D 3139434 3139440 2 12 258.645 - - 2 1 - - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 2 3 4 3 29 27 29 27 4 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693000940 5 15605415 C CA 780 PASS FBXL7 ENST00000504595 r.? - - Ins intronic I 15605415 15605418 1 50 692.828 - - 2 1 1 FBXL7|ENST00000504595|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBXL7|ENST00000504595|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 9 4 11 7 35 29 35 29 11 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693004709 5 26908448 G GGT 298 PASS CDH9 CCDS3893.1 r.? - - Ins intronic I 26908448 26908449 2 15 316.154 - - 0 1 1 CDH9|CCDS3893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDH9|CCDS3893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 2 0 1 27 26 27 27 4 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693011113 5 46040976 TTTGA T 360 PASS - - - - - Del - D 46040976 46040985 4 16 323.379 - - 2 1 1 - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 3 3 3 7 39 25 39 25 3 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693013866 5 57317008 CATACATATTT C 261 PASS - - - - - Del - D 57317008 57317019 10 30 485.068 - - 1 1 1 - - ./. 0 0 0 0 18 23 18 23 0 0 ./. 5 4 7 5 27 23 27 23 7 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693015921 5 64565130 AT A 720 PASS ADAMTS6 CCDS3983.2 r.? - - Del intronic D 64565130 64565135 1 48 646.758 - - 4 1 1 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 9 23 9 0 0 ./. 5 7 8 11 35 36 35 36 8 11 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693022928 5 87402277 GC G 445 PASS - - - - - Del - D 87402277 87402279 1 36 538.965 - - 1 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 5 5 7 9 29 27 29 27 7 9 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693027079 5 102669332 GGTAAGTAGTATTTGTATGA G 435 PASS - - - - - Del - D 102669332 102669353 19 70 808.447 - - 1 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 9 7 9 42 35 42 35 7 9 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693037288 5 137431937 CA C 300 PASS WNT8A CCDS3945.1 r.? - - Del downstream D 137431937 137431947 1 12 269.482 - - 9 1 1 WNT8A|CCDS3945.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 WNT8A|CCDS3945.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 3 2 44 27 44 27 3 2 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693041599 5 152116700 CT C 660 PASS - - - - - Del - D 152116700 152116702 1 42 592.861 - - 1 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 5 6 8 8 27 21 27 21 8 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693044371 5 161367323 C CT 960 PASS - - - - - Ins - I 161367323 161367331 1 77 849.701 - - 7 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 6 10 8 12 33 28 33 28 8 12 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693050137 5 178862642 C CA 269 PASS - - - - - Ins - I 178862642 178862652 1 12 260.452 - - 9 1 1 - - ./. 0 0 0 0 19 23 19 23 0 0 ./. 3 2 3 3 34 26 34 26 3 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693073774 6 63669134 G GT 329 PASS - - - - - Ins - I 63669134 63669142 1 15 319.814 - - 7 1 1 - - ./. 0 0 0 0 12 17 12 18 0 0 ./. 4 2 7 3 19 20 19 20 7 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693092115 6 129484245 A AT 360 PASS LAMA2 CCDS5138.1 r.? - - Ins intronic I 129484245 129484254 1 15 319.814 - - 8 1 1 LAMA2|CCDS5138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LAMA2|CCDS5138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 21 21 21 0 0 ./. 2 4 5 4 19 25 20 25 5 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693092914 6 132370011 AAT A 360 PASS - - - - - Del - D 132370011 132370015 2 7 322.824 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 6 0 8 0 33 24 33 24 8 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693107954 7 7707148 G GT 600 PASS RPA3 CCDS5356.1 r.? - - Ins intronic I 7707148 7707157 1 32 532.355 - - 8 1 1 RPA3|CCDS5356.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RPA3|CCDS5356.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 10 0 0 ./. 7 3 8 4 37 26 37 27 8 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693111335 7 17306586 A AT 900 PASS - - - - - Ins - I 17306586 17306593 1 52 799.436 - - 6 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 12 3 12 5 39 30 40 31 12 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693111873 7 19355125 G GT 480 PASS - - - - - Ins - I 19355125 19355130 1 25 425.764 - - 4 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 4 4 8 6 21 22 22 22 8 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693114402 7 26369693 CCT C 480 PASS SNX10 CCDS5399.1 r.? - - Del intronic D 26369693 26369696 2 24 430.58 - - 1 1 1 SNX10|CCDS5399.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SNX10|CCDS5399.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 5 3 6 29 18 29 18 3 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693136208 7 91352196 CACTTTAGACCAAATGGACCT C 406 PASS - - - - - Del - D 91352196 91352217 20 63 753.365 - - 1 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 6 8 5 7 21 18 22 19 6 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693152045 7 141316412 C CAT 360 PASS AGK CCDS5865.1 r.? - - Ins intronic I 141316412 141316423 2 15 316.162 - - 5 1 1 AGK|CCDS5865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGK|CCDS5865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 2 4 5 6 23 25 24 25 5 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693158425 8 46199 GGC G 290 PASS - - - - - Del - D 46199 46203 2 12 588.214 - - 1 1 1 - - ./. 0 0 0 0 15 121 15 129 0 0 ./. 0 11 0 50 35 266 35 283 0 52 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693161579 8 9142305 TG T 960 PASS - - - - - Del - D 9142305 9142308 1 72 863.465 - - 2 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 11 5 15 7 29 18 29 18 15 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693167606 8 29326708 GCCACA G 478 PASS - - - - - Del - D 29326708 29326715 5 24 485.699 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 7 6 11 11 24 11 24 6 11 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693169834 8 37197878 AAAG A 298 PASS - - - - - Del - D 37197878 37197884 3 7 315.37 - - 1 1 - - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 6 0 13 0 153 94 153 94 16 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693171078 8 38416344 TG T 540 PASS - - - - - Del - D 38416344 38416354 1 18 469.443 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 8 18 14 174 233 174 233 18 14 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693172251 8 40160473 TA T 480 PASS - - - - - Del - D 40160473 40160475 1 21 428.12 - - 1 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 6 2 8 3 101 109 101 109 8 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693176567 8 59170102 ACC A 480 PASS - - - - - Del - D 59170102 59170105 2 21 429.926 - - 2 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 6 2 11 4 33 22 33 22 11 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693185343 8 89802161 A AT 360 PASS - - - - - Ins - I 89802161 89802170 1 15 319.585 - - 8 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 2 6 3 20 21 21 23 6 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693185830 8 91571086 AC A 569 PASS - - - - - Del - D 91571086 91571089 1 35 536.053 - - 2 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 6 5 11 22 29 22 29 5 11 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693185871 8 91635055 A ATGGC 540 PASS TMEM64 CCDS34920.2 r.4164_4165insgcca c.? p.? Ins 3'UTR variant I 91635055 91635065 4 30 464.025 - - 2 1 1 TMEM64|CCDS34920.2|r.4164_4165insgcca|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 TMEM64|CCDS34920.2|r.4164_4165insgcca|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 18 19 18 19 0 0 ./. 5 4 7 7 27 31 28 31 7 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693186944 8 95538974 TAAGAG T 600 PASS KIAA1429 CCDS34923.1 r.1506_1510delCUCUU c.1493_1497delCTCTT p.S498fs*1 Del frameshift D 95538974 95538984 5 36 539.666 - - 1 1 1 KIAA1429|CCDS34923.1|r.1506_1510delCUCUU|c.1493_1497delCTCTT|p.S498fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 KIAA1429|CCDS34923.1|r.1506_1510delCUCUU|c.1493_1497delCTCTT|p.S498fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 13 15 13 15 0 0 ./. 5 5 8 6 27 34 27 34 8 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693197676 8 131900170 GTCTT GAC 269 PASS ADCY8 CCDS6363.1 r.? - - Complex intronic DI 131900171 131900174 4 10 0 - - 0 1 1 ADCY8|CCDS6363.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ADCY8|CCDS6363.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 6 16 7 16 0 0 ./. 1 4 0 0 3 26 3 27 1 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693197868 8 132613998 G GA 720 PASS - - - - - Ins - I 132613998 132614002 1 33 639.17 - - 3 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 10 2 14 5 38 32 38 32 14 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693225574 9 98842713 T TC 1080 PASS - - - - - Ins - I 98842713 98842716 1 100 962.472 - - 2 1 1 - - ./. 0 0 0 0 10 14 10 15 0 0 ./. 9 9 9 12 28 35 28 35 9 12 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693227140 9 104735384 TAG T 480 PASS - - - - - Del - D 104735384 104735395 2 25 432.582 - - 5 1 1 - - ./. 0 0 0 0 16 26 16 26 0 0 ./. 4 4 6 5 26 38 26 38 6 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693233031 9 123830541 CTAGTAAATGAATTCAGTAAAG C 348 PASS C5 ENST00000430906 r.? - - Del intronic D 123830541 123830564 21 48 648.873 - - 1 1 1 C5|ENST00000430906|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C5|ENST00000430906|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 7 5 7 24 20 24 20 5 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693234060 9 127499513 CATCT C 596 PASS NR6A1 CCDS35137.1 r.? - - Del intronic D 127499513 127499519 4 48 648.873 - - 1 1 1 NR6A1|CCDS35137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NR6A1|CCDS35137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 7 5 7 6 31 25 31 25 7 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693240737 X 9536638 CTG C 300 PASS TBL1X CCDS14133.1 r.? - - Del intronic D 9536638 9536657 2 12 268.574 - - 9 1 - TBL1X|CCDS14133.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TBL1X|CCDS14133.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 2 4 34 40 34 40 2 4 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693241577 X 13196511 AT A 660 PASS - - - - - Del - D 13196511 13196520 1 40 593.031 - - 8 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 7 4 7 8 21 33 21 33 7 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693245856 X 29713882 T TA 600 PASS IL1RAPL1 CCDS14218.1 r.? - - Ins intronic I 29713882 29713884 1 27 532.934 - - 1 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 8 2 12 5 30 31 30 32 12 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693247316 X 35921375 TC T 540 PASS - - - - - Del - D 35921375 35921377 1 30 486.083 - - 1 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 5 4 6 6 29 18 29 18 6 6 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693247533 X 38073709 G GCCTCCCAGA 290 PASS SRPX CCDS14245.1 r.? - - Ins intronic I 38073709 38073719 9 35 483.565 - - 1 1 1 SRPX|CCDS14245.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SRPX|CCDS14245.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 14 23 14 0 0 ./. 4 6 4 6 26 30 27 31 5 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693249037 X 44266743 G GT 360 PASS - - - - - Ins - I 44266743 44266750 1 12 320.844 - - 6 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 1 5 3 5 24 30 25 30 3 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693253175 X 66339869 AC A 780 PASS - - - - - Del - D 66339869 66339878 1 54 702.989 - - 8 1 1 - - ./. 0 0 0 0 20 9 20 9 0 0 ./. 5 8 6 11 22 25 22 25 6 12 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693256654 X 81252266 GCAA G 300 PASS - - - - - Del - D 81252266 81252285 3 6 270.38 - - 6 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 0 5 0 45 22 45 22 5 0 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693257077 X 83072207 C CA 840 PASS - - - - - Ins - I 83072207 83072214 1 63 741.412 - - 6 1 1 - - ./. 0 0 0 0 23 22 24 22 0 0 ./. 6 8 10 11 31 38 31 38 10 11 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693259852 X 94276755 C CT 600 PASS - - - - - Ins - I 94276755 94276757 1 35 531.73 - - 1 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 6 4 8 22 18 22 19 4 8 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693262310 X 104662958 GA G 540 PASS IL1RAPL2 CCDS14517.1 r.? - - Del intronic D 104662958 104662966 1 30 486.685 - - 7 1 1 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 28 18 28 0 0 ./. 4 5 5 7 22 35 22 35 5 7 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693262439 X 105241411 C CA 600 PASS - - - - - Ins - I 105241411 105241419 1 36 534.74 - - 7 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 5 5 7 14 30 31 30 32 7 14 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693267164 X 125075327 GCT G 960 PASS - - - - - Del - D 125075327 125075333 2 45 862.81 - - 2 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 14 2 17 3 29 20 29 20 17 3 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693271854 X 145198707 AG A 360 PASS - - - - - Del - D 145198707 145198709 1 16 324.457 - - 1 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 3 7 5 35 21 35 21 7 5 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693272157 X 146259753 G GA 689 PASS - - - - - Ins - I 146259753 146259756 1 33 635.668 - - 2 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 10 3 11 21 37 21 37 3 11 1 1 1 1 1 1 1 1 2628041 PD12664a PD12664b 2693273594 X 153066835 TC T 420 PASS PDZD4 CCDS14732.1 r.? - - Del downstream D 153066835 153066839 1 18 370.104 - - 3 1 1 PDZD4|CCDS14732.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PDZD4|CCDS14732.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 5 5 8 27 31 27 31 5 8 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691118068 1 1790922 TCAAA T 360 PASS GNB1 CCDS34.1 r.? - - Del intronic D 1790922 1790935 4 12 322.217 - - 3 1 1 GNB1|CCDS34.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GNB1|CCDS34.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 5 4 7 20 36 20 36 4 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691125973 1 24393903 TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTG 290 PASS MYOM3 CCDS41281.1 r.? - - Complex intronic DI 24393904 24393933 30 32 0 - - 0 1 - MYOM3|CCDS41281.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 MYOM3|CCDS41281.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 7 0 0 18 25 18 25 3 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691129042 1 33475575 CAG C 272 PASS AK2 CCDS373.1 r.1594_1595delCU c.? p.? Del 3'UTR variant D 33475575 33475578 2 9 429.622 - - 1 1 1 AK2|CCDS373.1|r.1594_1595delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 AK2|CCDS373.1|r.1594_1595delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 18 8 18 8 0 0 ./. 8 0 8 0 49 24 49 24 8 0 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691130709 1 39268216 CCA C 720 PASS - - - - - Del - D 39268216 39268221 2 48 641.423 - - 2 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 7 5 8 7 40 27 40 27 8 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691141584 1 75372981 A AT 360 PASS - - - - - Ins - I 75372981 75372983 1 12 318.002 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 1 5 2 5 29 26 29 26 2 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691141638 1 75579113 GT G 540 PASS - - - - - Del - D 75579113 75579122 1 18 483.325 - - 8 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 1 8 4 11 22 35 22 35 4 11 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691142392 1 77989724 CTATTCTAGGTACCTCT C 377 PASS AK5 CCDS676.1 r.? - - Del intronic D 77989724 77989745 16 54 695.728 - - 1 1 1 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 8 5 8 4 27 28 27 29 8 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691147687 1 94848033 TA T 600 PASS - - - - - Del - D 94848033 94848037 1 35 537.028 - - 3 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 6 6 8 22 41 22 41 6 8 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691155061 1 119844958 T TA 389 PASS - - - - - Ins - I 119844958 119844967 1 18 366.287 - - 8 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 2 5 2 6 33 29 33 29 2 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691158313 1 145112673 A AT 927 PASS - - - - - Ins - I 145112673 145112682 1 90 902.713 - - 8 1 1 - - ./. 0 0 0 0 32 65 32 66 0 0 ./. 9 8 10 10 132 158 136 161 10 10 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691160084 1 150230422 GCT G 269 PASS CA14 CCDS947.1 r.255_256delCU c.? p.? Del 5'UTR variant D 150230422 150230442 2 10 259.483 - - 9 1 - CA14|CCDS947.1|r.255_256delCU|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 CA14|CCDS947.1|r.255_256delCU|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 1 4 2 36 25 36 25 4 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691163499 1 159249978 GTA G 300 PASS OR10J3 ENST00000389011 r.? - - Del intronic D 159249978 159249994 2 12 268.514 - - 7 1 1 OR10J3|ENST00000389011|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OR10J3|ENST00000389011|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 3 3 3 35 36 35 36 3 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691164214 1 161447891 CAG C 269 PASS - - - - - Del - D 161447891 161447905 2 12 267.31 - - 6 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 2 3 37 51 37 51 2 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691167348 1 170711407 CCA C 540 PASS PRRX1 CCDS1291.1 r.? - - Del downstream D 170711407 170711416 2 18 483.325 - - 4 1 1 PRRX1|CCDS1291.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PRRX1|CCDS1291.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 8 11 8 0 0 ./. 8 1 11 2 43 30 43 30 11 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691171884 1 184766000 AAGTGTCTGG A 464 PASS FAM129A CCDS1364.1 r.? - - Del intronic D 184766000 184766012 9 77 859.245 - - 1 1 1 FAM129A|CCDS1364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM129A|CCDS1364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 10 7 11 40 43 40 43 7 11 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691189014 1 234379093 C CA 300 PASS SLC35F3 CCDS1600.1 r.? - - Ins intronic I 234379093 234379103 1 12 265.504 - - 9 1 1 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 3 2 3 34 43 34 43 2 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691192571 1 242777469 C CT 420 PASS - - - - - Ins - I 242777469 242777479 1 20 370.501 - - 9 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 3 5 3 30 18 31 18 5 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691198204 10 8111432 TCA T 389 PASS GATA3 CCDS31143.1 r.1493-3_1493-2delca c.925-3_925-2delca p.? Del ess splice D 8111432 8111435 2 18 377.349 - - 1 1 1 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 2 7 6 30 23 30 23 7 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691203623 10 24202800 AC A 420 PASS KIAA1217 CCDS41496.1 r.? - - Del intronic D 24202800 24202803 1 20 377.349 - - 2 1 1 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 4 4 5 25 22 25 22 4 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691205121 10 28228067 AAC A 360 PASS ARMC4 CCDS7157.1 r.? - - Del intronic D 28228067 28228086 2 12 323.442 - - 9 1 1 ARMC4|CCDS7157.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARMC4|CCDS7157.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 1 5 1 6 32 30 32 30 1 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691207301 10 33964472 G GA 300 PASS - - - - - Ins - I 33964472 33964482 1 10 256.892 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 1 3 27 34 27 34 1 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691215698 10 60026151 G GA 1020 PASS IPMK CCDS7250.1 r.? - - Ins intronic I 60026151 60026158 1 90 904.98 - - 6 1 1 IPMK|CCDS7250.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IPMK|CCDS7250.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 9 0 0 ./. 8 9 10 10 41 31 42 32 10 10 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691222480 10 80854031 C CA 420 PASS ZMIZ1 CCDS7357.1 r.? - - Ins intronic I 80854031 80854032 1 20 371.93 - - 0 1 1 ZMIZ1|CCDS7357.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZMIZ1|CCDS7357.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 4 3 5 21 24 23 24 3 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691228155 10 99201321 CA C 329 PASS ZDHHC16 CCDS7460.1 r.? - - Del upstream D 99201321 99201323 1 12 323.442 - - 1 1 1 ZDHHC16|CCDS7460.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 EXOSC1|CCDS7459.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 1 5 4 7 16 32 16 32 4 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691255315 11 45596236 TC T 480 PASS - - - - - Del - D 45596236 45596240 1 24 432.038 - - 3 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 5 5 6 33 35 33 35 5 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691275729 11 112534972 CAG C 360 PASS - - - - - Del - D 112534972 112534991 2 15 324.029 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 4 2 5 22 26 22 26 2 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691278653 11 121604834 A AT 780 PASS - - - - - Ins - I 121604834 121604842 1 56 694.236 - - 7 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 7 6 7 7 30 30 30 30 7 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691278690 11 121722300 TG T 300 PASS - - - - - Del - D 121722300 121722302 1 10 270.024 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 1 4 3 5 15 29 15 29 3 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691289072 12 17567010 TA T 300 PASS - - - - - Del - D 17567010 17567020 1 10 262.824 - - 9 1 1 - - ./. 0 0 0 0 15 4 15 4 0 0 ./. 1 4 1 4 17 24 17 24 1 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691289303 12 18070438 G GA 480 PASS - - - - - Ins - I 18070438 18070446 1 21 427.261 - - 7 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 6 2 8 17 38 17 39 2 8 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691290057 12 20100636 TTG T 840 PASS - - - - - Del - D 20100636 20100645 2 63 752.524 - - 4 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 8 6 12 7 36 39 36 39 12 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691298027 12 46915441 GA G 358 PASS - - - - - Del - D 46915441 46915450 1 20 378.068 - - 8 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 3 5 4 36 22 36 22 5 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691315020 12 103174709 C CA 457 PASS - - - - - Ins - I 103174709 103174718 1 16 427.261 - - 8 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 1 7 1 8 19 36 19 36 1 8 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691322995 12 127294941 TAGACTAAAAGGAACAAGGGAAAAG T 290 PASS - - - - - Del - D 127294941 127294967 24 36 540.097 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 5 4 2 29 33 30 36 5 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691323538 12 128491517 CT C 300 PASS - - - - - Del - D 128491517 128491520 1 10 270.049 - - 2 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 1 6 4 28 18 28 18 6 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691334758 13 43316628 G GT 480 PASS - - - - - Ins - I 43316628 43316630 1 21 427.082 - - 1 1 1 - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 2 6 4 9 16 34 16 34 4 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691337948 13 53542988 C CCA 329 PASS - - - - - Ins - I 53542988 53542989 2 15 313.388 - - 0 1 - - - ./. 0 0 0 0 16 12 17 12 0 0 ./. 4 2 0 0 34 39 34 39 4 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691338361 13 55126819 TCC T 420 PASS - - - - - Del - D 55126819 55126826 2 18 378.964 - - 6 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 5 6 9 28 37 28 37 6 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691339820 13 59887035 ATCGGT A 261 PASS - - - - - Del - D 59887035 59887042 5 30 487.24 - - 1 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 4 5 5 7 31 28 31 28 5 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691342109 13 66286968 CATT C 509 PASS - - - - - Del - D 66286968 66286974 3 28 487.24 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 6 3 7 6 19 30 19 30 7 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691346438 13 79223052 A AC 449 PASS RNF219 CCDS31997.1 r.? - - Ins intronic I 79223052 79223053 1 21 410.826 - - 0 1 1 RNF219|CCDS31997.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF219|CCDS31997.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 6 6 9 27 27 27 27 6 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691347580 13 82801175 C CT 420 PASS - - - - - Ins - I 82801175 82801182 1 20 374.148 - - 6 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 4 3 5 4 27 22 27 22 5 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691352290 13 97326585 TA T 300 PASS HS6ST3 CCDS9481.1 r.? - - Del intronic D 97326585 97326589 1 10 270.689 - - 3 1 1 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 1 4 2 4 27 29 27 29 2 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691352609 13 98670062 G GT 360 PASS IPO5 CCDS31999.1 r.? - - Ins intronic I 98670062 98670070 1 16 320.01 - - 7 1 1 IPO5|CCDS31999.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IPO5|CCDS31999.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 3 3 8 4 29 29 29 31 8 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691352906 13 99328590 C CCACG 629 PASS - - - - - Ins - I 99328590 99328614 4 42 567.821 - - 5 1 - - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 6 7 12 41 37 42 38 7 12 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691354772 13 105052088 C CT 900 PASS - - - - - Ins - I 105052088 105052097 1 72 800.628 - - 8 1 1 - - ./. 0 0 0 0 13 9 14 9 0 0 ./. 8 7 8 8 40 36 40 36 8 8 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691357278 13 112062028 TGA T 300 PASS - - - - - Del - D 112062028 112062046 2 12 258.648 - - 8 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 2 3 32 30 32 30 2 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691361911 14 29882036 TG T 482 PASS - - - - - Del - D 29882036 29882038 1 42 595.989 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 5 6 7 6 27 31 27 31 7 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691368306 14 50048988 G GT 598 PASS RPS29 CCDS32072.1 r.? - - Ins intronic I 50048988 50048990 1 42 589.366 - - 1 1 1 RPS29|CCDS32072.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RPS29|CCDS32072.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 18 16 0 0 ./. 5 6 5 9 25 28 25 28 5 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691370919 14 57127533 T TA 600 PASS - - - - - Ins - I 57127533 57127535 1 27 535.787 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 8 5 10 30 30 31 30 5 10 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691371989 14 60416003 G GT 377 PASS - - - - - Ins - I 60416003 60416006 1 14 696.524 - - 2 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 13 0 13 0 47 29 47 29 13 0 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691375410 14 72068119 T TG 720 PASS SIPA1L1 CCDS9807.1 r.? - - Ins intronic I 72068119 72068121 1 49 642.945 - - 1 1 1 SIPA1L1|CCDS9807.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SIPA1L1|CCDS9807.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 6 8 6 25 31 25 31 8 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691379043 14 82367370 C CA 360 PASS - - - - - Ins - I 82367370 82367372 1 16 321.472 - - 1 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 3 5 4 35 19 35 19 5 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691384047 14 97748078 GGA G 300 PASS - - - - - Del - D 97748078 97748095 2 12 270.904 - - 8 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 2 3 2 29 38 29 38 3 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691386348 14 105129753 C CCA 269 PASS - - - - - Ins - I 105129753 105129755 2 6 259.465 - - 0 1 1 - - ./. 0 0 0 0 8 3 8 3 0 0 ./. 0 5 0 9 12 31 14 31 0 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691403914 15 67727337 A AAT 358 PASS IQCH CCDS32273.1 r.? - - Ins intronic I 67727337 67727338 2 18 371.021 - - 0 1 1 IQCH|CCDS32273.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IQCH|CCDS32273.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 2 0 0 29 25 29 26 5 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691405751 15 73275132 G GA 420 PASS - - - - - Ins - I 73275132 73275141 1 18 375.235 - - 8 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 5 2 10 2 40 30 40 31 10 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691411567 15 92224814 A AC 600 PASS - - - - - Ins - I 92224814 92224822 1 36 534.846 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 5 6 5 35 26 35 27 6 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691411952 15 93443591 TAGAG T 389 PASS CHD2 CCDS10374.2 r.174_177delAGAG c.? p.? Del 5'UTR variant D 93443591 93443600 4 20 379.449 - - 4 1 1 CHD2|CCDS10374.2|r.174_177delAGAG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 CHD2|CCDS10374.2|r.174_177delAGAG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 3 5 3 31 32 31 32 5 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691415157 15 102443497 A ATCCTT 261 PASS - - - - - Ins - I 102443497 102443505 5 10 460.771 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 9 0 10 0 45 26 45 26 10 0 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691417413 16 6467497 TCTC T 420 PASS - - - - - Del - D 6467497 6467503 3 20 374.531 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 4 5 6 28 25 28 25 5 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691418928 16 9973272 A AT 360 PASS GRIN2A CCDS10539.1 r.? - - Ins intronic I 9973272 9973280 1 15 317.93 - - 7 1 1 GRIN2A|CCDS10539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRIN2A|CCDS10539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 2 6 3 28 26 29 26 6 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691421850 16 18686114 CT C 274 PASS - - - - - Del - D 18686114 18686124 1 16 324.553 - - 9 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 3 3 3 30 28 30 28 3 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691444208 17 6394665 TGAA T 269 PASS PITPNM3 CCDS11076.1 r.? - - Del intronic D 6394665 6394669 3 10 270.814 - - 1 1 1 PITPNM3|CCDS11076.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PITPNM3|CCDS11076.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 1 8 5 0 0 ./. 4 1 6 1 13 1 13 14 6 1 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691474672 18 12784588 TTACA T 598 PASS PTPN2 CCDS11863.1 r.? - - Del downstream D 12784588 12784595 4 40 595.071 - - 1 1 1 PTPN2|CCDS11863.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PTPN2|CCDS11863.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 12 13 12 0 0 ./. 7 4 13 5 34 31 34 31 13 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691486013 18 51596357 AT A 329 PASS - - - - - Del - D 51596357 51596366 1 12 325.241 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 1 5 3 5 30 18 30 18 3 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691490272 18 64207310 TTC T 300 PASS CDH19 CCDS11994.1 r.? - - Del intronic D 64207310 64207330 2 10 269.228 - - 9 1 1 CDH19|CCDS11994.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH19|CCDS11994.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 1 4 2 6 31 25 31 25 2 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691495941 19 2728838 TC T 480 PASS SLC39A3 CCDS12093.1 r.? - - Del downstream D 2728838 2728843 1 24 431.329 - - 4 1 1 SLC39A3|CCDS12093.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AC005258.1|ENST00000507172|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 3 6 6 25 21 25 21 6 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691498149 19 7637002 GGT G 360 PASS - - - - - Del - D 7637002 7637005 2 7 315.068 - - 1 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 6 0 6 0 25 18 25 18 6 0 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691504734 19 22698764 C CCT 360 PASS - - - - - Ins - I 22698764 22698765 2 7 316.874 - - 0 1 - - - ./. 0 0 0 0 11 0 11 0 0 0 ./. 0 6 1 0 33 30 33 30 1 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691508275 19 35596898 ATCACCGCCGTGACCACGCCGCCACCGTT A 360 PASS ENSG00000179066 ENST00000313865 r.27_54del28 c.? p.? Del 5'UTR variant D 35596898 35596927 28 12 319.885 - - 1 1 - ENSG00000179066|ENST00000313865|r.27_54del28|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ENSG00000179066|ENST00000313865|r.27_54del28|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 1 0 0 43 40 43 40 5 1 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691511557 19 45278202 T TTTTTG 540 PASS CBLC CCDS12643.1 r.? - - Ins upstream I 45278202 45278237 5 10 459.658 - - 6 1 - CBLC|CCDS12643.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CBLC|CCDS12643.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 4 16 4 16 0 0 ./. 0 9 0 11 9 44 9 45 0 11 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691515336 19 54383738 AAGAGATTCATAGAGCCAGAGACACAGAGATTCATAGAGACAT A 269 PASS MYADM CCDS12866.1 r.? - - Del downstream D 54383738 54383814 42 12 269.882 - - 1 1 - MYADM|CCDS12866.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PRKCG|CCDS12867.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 11 11 14 0 0 ./. 2 3 0 0 21 26 27 41 2 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691517915 2 1681695 AGT A 300 PASS PXDN CCDS46221.1 r.? - - Del intronic D 1681695 1681711 2 6 264.576 - - 7 1 1 PXDN|CCDS46221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PXDN|CCDS46221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 5 0 4 1 36 36 36 36 5 1 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691525168 2 26084913 TA T 720 PASS ASXL2 ENST00000435504 r.? - - Del intronic D 26084913 26084920 1 48 645.097 - - 6 1 1 ASXL2|ENST00000435504|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASXL2|ENST00000435504|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 5 7 6 11 25 38 25 38 6 11 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691533568 2 51941919 TTG T 360 PASS - - - - - Del - D 51941919 51941923 2 16 315.926 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 2 4 25 28 25 28 3 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691534568 2 55644043 C CT 420 PASS CCDC88A CCDS33203.1 r.? - - Ins intronic I 55644043 55644053 1 18 370.888 - - 9 1 - CCDC88A|CCDS33203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC88A|CCDS33203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 3 14 3 0 0 ./. 5 2 11 3 41 24 41 24 11 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691548042 2 102634556 TTC T 300 PASS IL1R2 CCDS2054.1 r.? - - Del intronic D 102634556 102634574 2 10 268.188 - - 8 1 1 IL1R2|CCDS2054.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1R2|CCDS2054.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 1 4 1 36 23 36 23 4 1 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691551489 2 114840884 TG T 300 PASS - - - - - Del - D 114840884 114840886 1 6 260.361 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 5 0 8 0 34 17 34 17 8 0 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691552256 2 117426284 AG A 720 PASS - - - - - Del - D 117426284 117426286 1 48 645.097 - - 1 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 5 7 5 10 25 27 25 27 5 10 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691555888 2 129014318 C CA 420 PASS - - - - - Ins - I 129014318 129014328 1 18 370.286 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 2 7 4 35 30 36 30 7 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691566463 2 162766916 TA T 660 PASS SLC4A10 CCDS46438.1 r.? - - Del intronic D 162766916 162766923 1 42 591.339 - - 6 1 1 SLC4A10|CCDS46438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC4A10|CCDS46438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 6 5 6 22 25 22 25 5 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691566667 2 164033420 TA T 540 PASS - - - - - Del - D 164033420 164033425 1 30 483.822 - - 4 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 5 9 8 29 29 29 29 9 8 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691577726 2 199696447 TAC T 300 PASS - - - - - Del - D 199696447 199696465 2 12 268.79 - - 8 1 - - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 2 3 2 25 25 25 25 3 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691580304 2 208321194 GA G 389 PASS - - - - - Del - D 208321194 208321198 1 14 376.306 - - 3 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 1 6 2 9 26 23 26 23 2 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691582056 2 214017450 CTTCTA C 447 PASS IKZF2 CCDS2395.1 r.? - - Del upstream D 214017450 214017457 5 30 483.822 - - 1 1 1 IKZF2|CCDS2395.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 IKZF2|CCDS2395.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 4 5 6 33 27 34 27 6 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691584901 2 222272714 AAG A 360 PASS - - - - - Del - D 222272714 222272719 2 15 322.548 - - 2 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 2 6 2 23 29 23 29 6 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691589363 2 236120945 A ATAAT 747 PASS - - - - - Ins - I 236120945 236120953 4 60 718.897 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 9 5 10 6 29 32 29 32 10 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691596492 20 16789763 C CT 300 PASS - - - - - Ins - I 16789763 16789767 1 12 268.631 - - 3 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 4 4 32 32 32 32 4 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691596831 20 17973538 GGA G 660 PASS C20orf72 CCDS13131.1 r.? - - Del downstream D 17973538 17973545 2 22 594.6 - - 3 1 1 C20orf72|CCDS13131.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C20orf72|CCDS13131.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 14 8 14 0 0 ./. 1 10 2 14 20 47 20 47 2 14 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691603331 20 37926588 CTG C 300 PASS - - - - - Del - D 37926588 37926605 2 12 271.641 - - 8 1 - - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 2 3 30 41 30 41 2 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691624226 21 38330549 A AAAAG 267 PASS HLCS CCDS13647.1 r.? - - Ins intronic I 38330549 38330553 4 7 309.232 - - 0 1 - HLCS|CCDS13647.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 HLCS|CCDS13647.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 4 6 4 0 0 ./. 6 0 1 0 34 11 34 12 7 0 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691638616 22 45922205 GC G 540 PASS FBLN1 CCDS14067.1 r.? - - Del intronic D 45922205 45922208 1 30 489.726 - - 2 1 1 FBLN1|CCDS14067.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBLN1|CCDS14067.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 4 10 5 36 40 36 40 10 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691643496 3 8934258 CTGTGTGTGTGCATGCACACACACATG C 348 PASS RAD18 CCDS2571.1 r.? - - Del intronic D 8934258 8934285 26 45 645.737 - - 1 1 1 RAD18|CCDS2571.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAD18|CCDS2571.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 8 20 8 0 0 ./. 8 4 8 4 41 24 41 24 8 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691646632 3 19278584 C CT 360 PASS KCNH8 CCDS2632.1 r.? - - Ins intronic I 19278584 19278591 1 7 319.557 - - 6 1 1 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 22 18 22 0 0 ./. 0 6 0 7 32 36 33 36 0 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691650668 3 32517919 C CA 660 PASS CMTM6 CCDS2653.1 r.? - - Ins downstream I 32517919 32517926 1 30 585.253 - - 6 1 1 CMTM6|CCDS2653.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CMTM6|CCDS2653.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 9 6 11 27 37 27 37 6 11 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691651454 3 34765877 GTTTC G 480 PASS - - - - - Del - D 34765877 34765885 4 21 427.882 - - 1 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 2 6 3 7 27 29 27 29 3 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691654568 3 45890510 A AT 540 PASS LZTFL1 ENST00000439019 r.? - - Ins intronic I 45890510 45890516 1 30 478.734 - - 5 1 1 LZTFL1|ENST00000439019|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LZTFL1|ENST00000439019|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 5 4 7 5 32 33 33 34 7 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691656436 3 52024688 T TGCCGTCCCC 414 PASS ACY1 CCDS2844.1 r.? - - Ins downstream I 52024688 52024708 9 80 750.404 - - 2 1 1 ACY1|CCDS2844.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ACY1|CCDS2844.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 8 18 8 18 0 0 ./. 7 9 5 9 23 37 26 37 8 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691666100 3 79882770 AC A 405 PASS - - - - - Del - D 79882770 79882773 1 18 377.031 - - 2 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 2 9 3 30 29 30 29 9 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691672726 3 105891250 GGA G 300 PASS - - - - - Del - D 105891250 105891270 2 12 269.308 - - 9 1 - - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 3 4 3 42 23 42 23 4 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691683073 3 139859243 TGA T 300 PASS CLSTN2 CCDS3112.1 r.? - - Del intronic D 139859243 139859261 2 12 269.308 - - 8 1 1 CLSTN2|CCDS3112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLSTN2|CCDS3112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 3 3 29 19 29 19 3 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691683162 3 140270503 TC T 402 PASS CLSTN2 CCDS3112.1 r.? - - Del intronic D 140270503 140270505 1 16 426.678 - - 1 1 1 CLSTN2|CCDS3112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLSTN2|CCDS3112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 0 17 0 17 0 0 ./. 1 7 1 8 1 30 1 30 1 8 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691683316 3 140942746 AG A 300 PASS ACPL2 ENST00000505013 r.? - - Del upstream D 140942746 140942753 1 10 269.308 - - 6 1 1 ACPL2|ENST00000505013|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ACPL2|ENST00000505013|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 10 17 10 0 0 ./. 4 1 6 1 31 16 31 16 6 1 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691688180 3 156602124 G GT 300 PASS LEKR1 CCDS33883.1 r.? - - Ins intronic I 156602124 156602134 1 10 266.298 - - 9 1 1 LEKR1|CCDS33883.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LEKR1|CCDS33883.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 1 4 1 4 41 28 41 28 1 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691689577 3 161987022 A AT 360 PASS - - - - - Ins - I 161987022 161987032 1 16 319.557 - - 9 1 1 - - ./. 0 0 0 0 24 19 24 19 0 0 ./. 3 3 5 7 26 40 26 40 5 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691690792 3 165514400 GT G 720 PASS BCHE CCDS3198.1 r.? - - Del intronic D 165514400 165514408 1 49 645.135 - - 7 1 1 BCHE|CCDS3198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCHE|CCDS3198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 6 6 8 6 30 26 30 26 8 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691692721 3 172137302 CCT C 269 PASS - - - - - Del - D 172137302 172137318 2 12 260.277 - - 7 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 3 2 2 29 31 29 31 2 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691694329 3 177416522 AT A 689 PASS - - - - - Del - D 177416522 177416526 1 48 636.104 - - 3 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 7 5 8 6 32 21 32 21 8 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691694997 3 179551584 GTC G 300 PASS PEX5L CCDS3236.1 r.? - - Del intronic D 179551584 179551599 2 10 266.298 - - 7 1 1 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 18 21 18 0 0 ./. 1 4 1 4 27 29 27 29 1 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691702930 4 5852756 TC T 660 PASS CRMP1 CCDS33950.1 r.? - - Del intronic D 5852756 5852761 1 36 592.219 - - 4 1 1 CRMP1|CCDS33950.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRMP1|CCDS33950.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 8 3 10 5 29 27 29 27 10 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691706053 4 16251448 TA T 720 PASS AC006427.1 ENST00000440429 r.? - - Del intronic D 16251448 16251450 1 48 644.853 - - 1 1 1 AC006427.1|ENST00000440429|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC006427.1|ENST00000440429|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 7 7 7 34 41 34 41 7 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691706986 4 19312885 G GA 540 PASS - - - - - Ins - I 19312885 19312893 1 30 479.124 - - 7 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 5 7 5 32 32 32 33 7 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691710392 4 29548623 TTC T 360 PASS - - - - - Del - D 29548623 29548627 2 7 321.223 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 0 7 0 31 38 31 38 7 0 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691716313 4 47885271 C CA 300 PASS NFXL1 CCDS3478.2 r.? - - Ins intronic I 47885271 47885281 1 12 261.364 - - 9 1 1 NFXL1|CCDS3478.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NFXL1|CCDS3478.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 3 3 3 34 40 38 40 3 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691726039 4 77761548 G GT 300 PASS - - - - - Ins - I 77761548 77761558 1 12 266.18 - - 9 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 4 3 26 32 26 33 4 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691730272 4 91763257 TTGACTGGAC T 319 PASS FAM190A CCDS47099.1 r.? - - Del intronic D 91763257 91763268 9 42 592.219 - - 1 1 1 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 6 5 6 5 24 26 24 26 6 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691739833 4 123533753 G GT 480 PASS IL21 CCDS3727.1 r.? - - Ins downstream I 123533753 123533763 1 24 416.255 - - 9 1 1 IL21|CCDS3727.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 IL21|CCDS3727.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 22 12 22 12 0 0 ./. 3 5 4 9 33 26 34 26 4 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691753511 4 167554149 AG A 300 PASS - - - - - Del - D 167554149 167554151 1 6 266.18 - - 1 1 - - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 5 0 9 0 37 18 37 18 9 0 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691754407 4 170359816 G GA 300 PASS NEK1 CCDS47162.1 r.? - - Ins intronic I 170359816 170359826 1 12 264.976 - - 9 1 1 NEK1|CCDS47162.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NEK1|CCDS47162.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 3 3 39 24 39 25 3 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691766425 5 9913243 AAG A 360 PASS - - - - - Del - D 9913243 9913263 2 15 322.352 - - 9 1 - - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 4 2 5 33 35 33 35 2 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691770989 5 23503814 A AT 300 PASS PRDM9 CCDS43307.1 r.? - - Ins upstream I 23503814 23503824 1 12 266.62 - - 9 1 1 PRDM9|CCDS43307.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 PRDM9|CCDS43307.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 3 5 3 33 22 33 22 5 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691772175 5 26908448 G GGT 360 PASS CDH9 CCDS3893.1 r.? - - Ins intronic I 26908448 26908449 2 15 316.331 - - 0 1 1 CDH9|CCDS3893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDH9|CCDS3893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 6 5 6 0 0 ./. 4 2 0 0 27 17 27 17 4 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691776894 5 41396421 TTC T 300 PASS PLCXD3 CCDS34150.1 r.? - - Del intronic D 41396421 41396439 2 10 269.028 - - 8 1 1 PLCXD3|CCDS34150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCXD3|CCDS34150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 5 18 5 0 0 ./. 1 4 1 4 31 35 31 35 1 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691785183 5 73867980 AAAC A 360 PASS - - - - - Del - D 73867980 73867989 3 15 322.954 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 2 6 4 28 29 28 29 6 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691789570 5 87786872 GC G 269 PASS - - - - - Del - D 87786872 87786877 1 10 269.63 - - 4 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 1 6 2 32 21 32 21 6 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691789799 5 88853199 TG T 360 PASS - - - - - Del - D 88853199 88853201 1 16 323.556 - - 1 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 3 3 9 32 40 32 40 3 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691794798 5 107415066 G GT 329 PASS FBXL17 ENST00000359660 r.? - - Ins intronic I 107415066 107415074 1 12 319.341 - - 7 1 1 FBXL17|ENST00000359660|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBXL17|ENST00000359660|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 10 14 0 0 ./. 1 5 2 9 21 37 22 37 2 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691800584 5 127334355 TTC T 300 PASS - - - - - Del - D 127334355 127334375 2 12 269.63 - - 9 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 2 3 2 29 22 29 22 3 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691801106 5 129570098 TTG T 480 PASS - - - - - Del - D 129570098 129570101 2 24 430.204 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 5 5 8 30 28 30 28 5 8 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691811381 5 165895702 ATACAAAAAT A 290 PASS - - - - - Del - D 165895702 165895714 9 36 539.26 - - 1 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 5 5 6 5 18 22 18 23 6 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691833782 6 45952986 G GT 420 PASS CLIC5 CCDS47438.1 r.? - - Ins intronic I 45952986 45952988 1 18 362.289 - - 1 1 1 CLIC5|CCDS47438.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLIC5|CCDS47438.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 2 9 4 29 32 29 32 9 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691835448 6 51917792 T TA 300 PASS PKHD1 CCDS4935.1 r.? - - Ins intronic I 51917792 51917801 1 12 253.875 - - 8 1 1 PKHD1|CCDS4935.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PKHD1|CCDS4935.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 13 0 0 ./. 3 2 3 4 30 32 30 32 3 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691837440 6 57379589 A AT 540 PASS PRIM2 ENST00000425433 r.? - - Ins intronic I 57379589 57379596 1 28 479.733 - - 6 1 1 PRIM2|ENST00000425433|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRIM2|ENST00000425433|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 53 32 54 34 0 0 ./. 6 3 8 4 104 83 105 83 8 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691853936 6 112922036 CAG C 300 PASS - - - - - Del - D 112922036 112922054 2 10 269.529 - - 8 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 1 4 2 4 25 27 25 27 2 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691855353 6 117907006 AG A 540 PASS GOPC CCDS34523.1 r.? - - Del intronic D 117907006 117907009 1 24 485.152 - - 2 1 1 GOPC|CCDS34523.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GOPC|CCDS34523.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 7 2 8 3 40 25 40 25 8 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691855834 6 119568799 ATG A 300 PASS MAN1A1 CCDS5122.1 r.? - - Del intronic D 119568799 119568817 2 12 267.121 - - 8 1 1 MAN1A1|CCDS5122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAN1A1|CCDS5122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 3 2 3 30 30 30 30 2 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691857988 6 126919087 G GT 364 PASS - - - - - Ins - I 126919087 126919094 1 28 478.529 - - 6 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 3 7 5 34 36 34 36 7 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691858369 6 128629826 AAGT A 267 PASS PTPRK CCDS47473.1 r.? - - Del intronic D 128629826 128629830 3 16 322.23 - - 1 1 1 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 3 4 3 20 16 20 16 4 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691860721 6 137243444 G GCGCCCCCTGCCCTTCGCCGC 307 PASS SLC35D3 CCDS34544.1 r.43_44inscgcccccugcccuucgccgc c.? p.? Ins 5'UTR variant I 137243444 137243468 20 40 411.141 - - 1 1 1 SLC35D3|CCDS34544.1|r.43_44inscgcccccugcccuucgccgc|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 SLC35D3|CCDS34544.1|r.43_44inscgcccccugcccuucgccgc|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 7 1 2 32 25 35 30 4 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691864520 6 150634883 AT A 660 PASS - - - - - Del - D 150634883 150634886 1 42 589.351 - - 2 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 6 6 10 23 25 23 25 6 10 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691885106 7 42012105 TC T 780 PASS GLI3 CCDS5465.1 r.2024delG c.1933delG p.D645fs*48 Del frameshift D 42012105 42012110 1 54 699.166 - - 4 1 1 GLI3|CCDS5465.1|r.2024delG|c.1933delG|p.D645fs*48|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 GLI3|CCDS5465.1|r.2024delG|c.1933delG|p.D645fs*48|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 8 7 8 22 25 22 25 7 8 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691891366 7 61820078 CTA C 418 PASS - - - - - Del - D 61820078 61820082 2 78 916.656 - - 1 1 1 - - ./. 0 0 0 0 87 89 87 89 0 0 ./. 12 5 15 6 218 234 218 234 15 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691904583 7 100814649 ACT A 360 PASS C7orf52 CCDS5713.1 r.2058_2059delAG c.? p.? Del 3'UTR variant D 100814649 100814664 2 16 323.526 - - 7 1 1 C7orf52|CCDS5713.1|r.2058_2059delAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 C7orf52|CCDS5713.1|r.2058_2059delAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 3 3 3 26 30 26 30 3 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691906777 7 106889382 CT C 300 PASS COG5 CCDS5743.1 r.? - - Del intronic D 106889382 106889392 1 10 269.605 - - 9 1 1 COG5|CCDS5743.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COG5|CCDS5743.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 4 1 4 1 27 31 27 31 4 1 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691912489 7 127771807 AAG A 300 PASS - - - - - Del - D 127771807 127771825 2 10 266.594 - - 8 1 - - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 1 4 2 3 30 35 30 35 2 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691918351 7 145331285 CCT C 269 PASS - - - - - Del - D 145331285 145331300 2 12 267.196 - - 7 1 - - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 2 4 2 18 32 18 32 4 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691918399 7 145575384 ATCT A 420 PASS - - - - - Del - D 145575384 145575391 3 14 376.844 - - 2 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 6 4 6 17 27 17 27 4 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691924519 8 3503886 C CT 420 PASS CSMD1 ENST00000318252 r.? - - Ins intronic I 3503886 3503893 1 18 373.735 - - 6 1 1 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 10 0 0 ./. 5 2 6 5 25 24 28 24 6 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691926092 8 8137573 CGT C 300 PASS - - - - - Del - D 8137573 8137590 2 12 269.964 - - 8 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 2 3 3 3 62 42 62 42 3 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691927231 8 11357366 A AT 360 PASS BLK CCDS5982.1 r.? - - Ins intronic I 11357366 11357376 1 15 319.14 - - 9 1 1 BLK|CCDS5982.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BLK|CCDS5982.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 4 2 4 34 35 35 35 2 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691933132 8 27549114 C CTCTT 300 PASS - - - - - Ins - I 27549114 27549118 4 12 257.922 - - 0 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 5 2 38 29 39 29 5 2 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691941661 8 60579268 CTCT C 627 PASS - - - - - Del - D 60579268 60579279 3 33 646.709 - - 3 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 10 2 11 44 34 44 34 2 11 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691943741 8 68019051 ACAGT A 389 PASS CSPP1 CCDS47870.1 r.? - - Del intronic D 68019051 68019060 4 18 374.939 - - 2 1 1 CSPP1|CCDS47870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSPP1|CCDS47870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 5 3 9 28 33 28 33 3 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691946180 8 76234639 TAAAC T 360 PASS - - - - - Del - D 76234639 76234647 4 16 323.956 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 3 4 31 35 31 35 3 4 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691950358 8 91849558 G GT 540 PASS NECAB1 CCDS47889.1 r.? - - Ins intronic I 91849558 91849565 1 24 480.516 - - 6 1 1 NECAB1|CCDS47889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NECAB1|CCDS47889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 13 14 0 0 ./. 2 7 2 10 21 32 22 32 2 10 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691961806 8 130070661 CGT C 449 PASS - - - - - Del - D 130070661 130070678 2 25 431.942 - - 8 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 4 5 5 36 25 36 25 5 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691963760 8 137355794 C CCA 509 PASS - - - - - Ins - I 137355794 137355795 2 18 470.281 - - 0 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 8 1 1 0 22 26 24 26 9 1 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691972678 9 19178429 AT A 740 PASS - - - - - Del - D 19178429 19178438 1 63 756.919 - - 8 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 8 7 9 29 23 29 23 7 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691991220 9 99338934 AAG A 300 PASS CDC14C CCDS6722.1 r.? - - Del intronic D 99338934 99338938 2 6 259.491 - - 1 1 - CDC14C|CCDS6722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC14C|CCDS6722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 5 0 5 0 14 19 14 19 5 0 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2691991926 9 101932946 ATG A 480 PASS - - - - - Del - D 101932946 101932955 2 25 431.923 - - 4 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 4 7 5 20 26 20 26 7 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692001327 9 132258469 CA C 360 PASS - - - - - Del - D 132258469 132258471 1 7 323.792 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 0 6 0 7 36 33 36 33 0 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692011867 X 32787171 C CA 300 PASS DMD CCDS14233.1 r.? - - Ins intronic I 32787171 32787179 1 12 267.428 - - 7 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 3 2 3 22 26 23 26 2 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692014726 X 45127342 A AT 300 PASS - - - - - Ins - I 45127342 45127352 1 12 267.428 - - 9 1 1 - - ./. 0 0 0 0 9 21 9 22 0 0 ./. 2 3 3 3 38 40 38 40 3 3 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692017419 X 57417845 AT A 360 PASS FAAH2 CCDS14375.1 r.? - - Del intronic D 57417845 57417855 1 15 324.526 - - 9 1 1 FAAH2|CCDS14375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAAH2|CCDS14375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 4 2 6 23 28 23 28 2 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692017973 X 64458848 G GT 540 PASS - - - - - Ins - I 64458848 64458856 1 30 480.166 - - 7 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 5 6 9 36 35 38 35 6 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692018817 X 68864904 C CT 360 PASS EDA CCDS14394.1 r.? - - Ins intronic I 68864904 68864913 1 16 320.913 - - 8 1 1 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 3 3 6 5 39 31 39 31 6 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692020196 X 75049575 A AT 360 PASS - - - - - Ins - I 75049575 75049585 1 16 313.087 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 3 4 5 28 35 28 35 4 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692020429 X 75841970 GAC G 300 PASS - - - - - Del - D 75841970 75841986 2 6 270.438 - - 7 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 0 5 1 5 28 35 28 35 1 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692023169 X 86409934 A AT 300 PASS - - - - - Ins - I 86409934 86409942 1 10 267.428 - - 7 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 4 1 5 1 30 11 30 11 5 1 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692023597 X 87905048 A AT 720 PASS - - - - - Ins - I 87905048 87905055 1 48 641.827 - - 6 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 7 5 9 6 31 35 31 35 9 6 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692025740 X 97580758 TCTTA T 447 PASS - - - - - Del - D 97580758 97580766 4 28 486.789 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 6 5 8 25 29 25 29 5 8 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692027460 X 105580620 A AT 449 PASS - - - - - Ins - I 105580620 105580629 1 24 424.874 - - 8 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 3 7 7 42 36 43 36 7 7 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692028191 X 109366602 AGT A 300 PASS TMEM164 CCDS14550.2 r.? - - Del intronic D 109366602 109366618 2 10 269.234 - - 7 1 1 TMEM164|CCDS14550.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM164|CCDS14550.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 23 9 23 0 0 ./. 1 4 3 5 25 33 25 33 3 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692028316 X 110049903 GGACCCTTGGGT G 377 PASS - - - - - Del - D 110049903 110049915 11 54 701.935 - - 1 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 8 5 8 5 30 25 30 25 8 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692034004 X 134475711 AG A 720 PASS ZNF75D CCDS14648.1 r.2301delC c.? p.? Del 5'UTR variant D 134475711 134475714 1 45 649.051 - - 2 1 1 ZNF75D|CCDS14648.1|r.2301delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ZNF75D|CCDS14648.1|r.2301delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 8 4 9 26 25 26 25 4 9 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692034315 X 135831773 AAAAT A 298 PASS ARHGEF6 CCDS14660.1 r.? - - Del intronic D 135831773 135831785 4 15 324.526 - - 2 1 1 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 4 2 5 24 34 24 34 2 5 1 1 1 1 1 1 1 1 2627151 PD13352a PD13352b 2692037153 X 147231218 GAGTA G 269 PASS - - - - - Del - D 147231218 147231226 4 10 270.438 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 1 4 5 4 41 18 41 18 5 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690100695 1 41482329 TG T 360 PASS SLFNL1 CCDS460.1 r.? - - Del intronic D 41482329 41482331 1 15 321.092 - - 1 1 1 SLFNL1|CCDS460.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AL110502.1|ENST00000421714|r.2069delG|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 4 3 6 21 35 21 35 3 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690102039 1 45693092 C CA 600 PASS - - - - - Ins - I 45693092 45693100 1 36 529.935 - - 7 1 1 - - ./. 0 0 0 0 13 22 14 23 0 0 ./. 5 5 9 6 30 31 30 33 9 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690103830 1 52147138 AT A 1020 PASS OSBPL9 CCDS44145.1 r.? - - Del intronic D 52147138 52147142 1 90 913.171 - - 3 1 1 OSBPL9|CCDS44145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OSBPL9|CCDS44145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 9 8 13 12 34 44 34 44 13 12 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690110897 1 75252065 CTGTT C 476 PASS - - - - - Del - D 75252065 75252072 4 32 537.159 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 3 10 4 31 20 31 20 10 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690113676 1 84088879 TAC T 360 PASS - - - - - Del - D 84088879 84088896 2 15 322.296 - - 8 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 2 4 2 4 24 28 24 28 2 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690117707 1 96564301 A AT 660 PASS - - - - - Ins - I 96564301 96564309 1 40 582.447 - - 7 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 7 7 10 30 31 30 32 7 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690119968 1 104410134 CTT C 480 PASS - - - - - Del - D 104410134 104410138 2 24 429.727 - - 3 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 3 9 4 23 24 23 24 9 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690128821 1 147735772 T TAGTATTGTGAAG 261 PASS - - - - - Ins - I 147735772 147735786 12 18 417.217 - - 1 1 1 - - ./. 0 0 0 0 18 10 18 11 0 0 ./. 8 1 7 1 39 35 41 35 9 1 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690135295 1 166922228 A AT 660 PASS ILDR2 CCDS1256.1 r.? - - Ins intronic I 166922228 166922233 1 42 584.253 - - 4 1 1 ILDR2|CCDS1256.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ILDR2|CCDS1256.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 6 10 6 33 20 33 20 10 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690138380 1 176434849 G GT 360 PASS PAPPA2 CCDS41438.1 r.? - - Ins intronic I 176434849 176434859 1 16 318.683 - - 9 1 1 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 3 3 6 6 31 26 31 26 6 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690138495 1 176926041 A AT 660 PASS ASTN1 CCDS1319.1 r.? - - Ins intronic I 176926041 176926050 1 42 584.253 - - 8 1 1 ASTN1|CCDS1319.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASTN1|CCDS1319.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 6 5 8 7 39 29 40 29 8 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690144103 1 195660909 TG T 300 PASS - - - - - Del - D 195660909 195660911 1 12 266.171 - - 1 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 2 3 2 3 22 22 22 22 2 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690153100 1 223826079 GTA G 389 PASS CAPN8 ENST00000366873 r.? - - Del intronic D 223826079 223826083 2 20 376.012 - - 1 1 - CAPN8|ENST00000366873|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAPN8|ENST00000366873|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 4 4 24 35 24 35 4 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690169492 10 17315960 TTC T 420 PASS - - - - - Del - D 17315960 17315978 2 18 375.374 - - 8 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 2 9 2 17 11 17 11 10 2 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690182703 10 56129572 ACT A 420 PASS PCDH15 CCDS44404.1 r.? - - Del intronic D 56129572 56129579 2 20 377.181 - - 3 1 1 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 4 3 6 6 23 25 23 25 6 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690183851 10 59418149 AT A 1260 PASS - - - - - Del - D 59418149 59418155 1 130 1131.54 - - 5 1 1 - - ./. 0 0 0 0 25 6 25 6 0 0 ./. 9 12 9 13 46 32 46 32 9 13 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690186036 10 65916335 TTCTA T 747 PASS - - - - - Del - D 65916335 65916343 4 63 750.147 - - 1 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 6 8 8 10 27 39 27 39 8 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690190617 10 78828353 G GA 300 PASS KCNMA1 CCDS7352.1 r.? - - Ins intronic I 78828353 78828363 1 12 266.404 - - 9 1 1 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 3 2 45 37 45 37 3 2 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690192471 10 85557763 CA C 540 PASS - - - - - Del - D 85557763 85557770 1 30 484.946 - - 6 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 5 4 8 6 19 22 19 22 8 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690198823 10 105535209 GATC G 1107 PASS SH3PXD2A CCDS31278.1 r.? - - Del intronic D 105535209 105535214 3 120 1077.66 - - 1 1 1 SH3PXD2A|CCDS31278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3PXD2A|CCDS31278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 9 11 12 11 26 31 26 31 12 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690200733 10 112217193 G GT 660 PASS - - - - - Ins - I 112217193 112217195 1 36 586.09 - - 1 1 1 - - ./. 0 0 0 0 14 16 16 16 0 0 ./. 8 3 12 6 30 35 30 35 12 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690210110 11 4860071 C CA 600 PASS MMP26 CCDS7752.1 r.? - - Ins intronic I 4860071 4860078 1 36 531.404 - - 6 1 1 MMP26|CCDS7752.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MMP26|CCDS7752.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 5 5 9 8 25 38 25 38 9 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690212840 11 11870249 CG C 600 PASS USP47 CCDS41619.1 r.? - - Del intronic D 11870249 11870253 1 35 537.425 - - 3 1 1 USP47|CCDS41619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP47|CCDS41619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 6 7 9 26 21 26 21 7 9 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690219274 11 30881108 T TG 300 PASS DCDC5 ENST00000429306 r.? - - Ins downstream I 30881108 30881109 1 12 266.906 - - 0 1 1 DCDC5|ENST00000429306|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 DCDC5|ENST00000429306|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 2 3 2 33 33 34 33 3 2 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690223762 11 44293208 AT A 840 PASS ALX4 CCDS31468.1 r.? - - Del intronic D 44293208 44293211 1 60 754.562 - - 2 1 1 ALX4|CCDS31468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALX4|CCDS31468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 9 7 12 28 39 28 39 7 12 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690227434 11 58941918 CAG C 360 PASS DTX4 CCDS44612.1 r.? - - Del intronic D 58941918 58941936 2 15 314.267 - - 8 1 1 DTX4|CCDS44612.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DTX4|CCDS44612.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 4 2 4 4 32 22 32 22 4 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690232682 11 75382843 TC T 300 PASS MAP6 CCDS44686.1 r.? - - Del upstream D 75382843 75382845 1 6 263.896 - - 1 1 1 MAP6|CCDS44686.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 MAP6|CCDS44686.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 6 14 6 14 0 0 ./. 5 0 10 0 28 26 28 26 10 0 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690237451 11 91083594 GT G 780 PASS - - - - - Del - D 91083594 91083597 1 54 701.783 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 8 6 8 29 30 29 30 6 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690252616 12 2329040 TG T 420 PASS CACNA1C CCDS44794.1 r.? - - Del intronic D 2329040 2329043 1 18 377.908 - - 2 1 1 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 2 7 3 22 24 22 24 7 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690257622 12 15930212 A AACAC 360 PASS EPS8 CCDS31753.1 r.? - - Ins intronic I 15930212 15930230 4 16 309.472 - - 8 1 1 EPS8|CCDS31753.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 EPS8|CCDS31753.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 3 4 4 43 23 43 23 4 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690260327 12 23568179 G GAT 1020 PASS - - - - - Ins - I 23568179 23568192 2 90 897.307 - - 6 1 1 - - ./. 0 0 0 0 11 15 11 16 0 0 ./. 9 8 10 14 45 43 46 43 10 14 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690262240 12 28710941 TATCATCTTCCAGCGAG T 435 PASS - - - - - Del - D 28710941 28710960 16 70 809.803 - - 1 1 1 - - ./. 0 0 0 0 13 23 13 23 0 0 ./. 9 6 9 6 21 34 22 34 10 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690276238 12 76436804 A AT 660 PASS NAP1L1 CCDS9013.1 r.? - - Ins downstream I 76436804 76436812 1 42 584.825 - - 7 1 1 NAP1L1|CCDS9013.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 NAP1L1|CCDS9013.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 23 14 23 0 0 ./. 5 6 7 12 28 38 28 39 7 12 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690276646 12 77683227 C CA 283 PASS - - - - - Ins - I 77683227 77683234 1 12 319.105 - - 6 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 1 5 1 8 18 26 18 26 1 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690284080 12 100878377 TG T 720 PASS NR1H4 CCDS9078.1 r.? - - Del intronic D 100878377 100878382 1 40 645.434 - - 4 1 1 NR1H4|CCDS9078.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NR1H4|CCDS9078.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 11 20 11 0 0 ./. 9 3 10 4 30 20 30 20 10 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690288703 12 115117787 TAGAG T 598 PASS TBX3 CCDS9176.1 r.? - - Del intronic D 115117787 115117793 4 42 589.039 - - 2 1 1 TBX3|CCDS9176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBX3|CCDS9176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 6 5 10 8 31 25 31 25 10 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690288869 12 115542298 GCA G 300 PASS - - - - - Del - D 115542298 115542314 2 12 267.526 - - 7 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 2 3 40 36 40 36 2 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690295941 12 133827663 AT A 329 PASS - - - - - Del - D 133827663 133827665 1 16 295.624 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 3 5 5 33 19 33 19 5 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690307125 13 55530777 CT C 420 PASS - - - - - Del - D 55530777 55530785 1 20 379.501 - - 7 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 3 9 6 25 20 25 20 9 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690316040 13 86566055 CT C 360 PASS - - - - - Del - D 86566055 86566060 1 16 325.287 - - 4 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 6 4 16 13 16 13 6 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690334224 14 49932432 AC A 420 PASS - - - - - Del - D 49932432 49932434 1 18 378.56 - - 1 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 2 5 3 9 21 31 21 31 3 9 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690345606 14 81740572 A ATTGAAAATATTG 261 PASS STON2 CCDS9875.1 r.? - - Ins intronic I 81740572 81740587 12 30 422.472 - - 1 1 1 STON2|CCDS9875.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STON2|CCDS9875.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 4 5 2 35 30 35 32 5 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690354423 15 20544489 TCCCCCATCTGCCTGTGGTGTCACCAAATGTATCCAGAGACCGCTTGTAAACCTGGAGGGTGTGCTAACGTCAGTGGGGTGTCCTGGAGAGGCAGGAACCTGGGTTTCCAAGGTGCAGATCCTACTGAAGCAAATGGACGTCGCAACCGCGGGCAGAGCTGGCTGTGGTGTC T 438 PASS - - - - - Del - D 20544489 20544666 171 78 918.728 - - 1 1 1 - - ./. 0 0 0 0 48 44 48 44 0 0 ./. 12 5 0 0 143 89 143 93 12 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690362717 15 42265442 CA C 1140 PASS EHD4 CCDS10081.1 r.? - - Del upstream D 42265442 42265444 1 110 1026.96 - - 1 1 1 EHD4|CCDS10081.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 AC039056.1|ENST00000499478|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 9 10 13 11 38 43 38 43 13 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690365333 15 49641054 TTCTTCTCTTATTTGATACAAA T 319 PASS C15orf33 CCDS32237.1 r.? - - Del intronic D 49641054 49641077 21 42 594.648 - - 1 1 1 C15orf33|CCDS32237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C15orf33|CCDS32237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 21 27 21 0 0 ./. 5 6 5 6 41 33 41 33 5 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690366574 15 52434663 G GT 360 PASS GNB5 CCDS10149.1 r.? - - Ins intronic I 52434663 52434673 1 15 315.651 - - 9 1 1 GNB5|CCDS10149.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GNB5|CCDS10149.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 14 5 14 0 0 ./. 2 4 2 5 43 52 43 52 2 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690369616 15 59949541 CG C 780 PASS GTF2A2 CCDS10173.1 r.137delC c.? p.? Del 5'UTR variant D 59949541 59949549 1 54 702.273 - - 7 1 1 GTF2A2|CCDS10173.1|r.137delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 GTF2A2|CCDS10173.1|r.137delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 8 8 10 43 38 43 38 8 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690371170 15 63843504 CTTTT C 480 PASS USP3 CCDS32265.1 r.? - - Del intronic D 63843504 63843511 4 9 432.909 - - 6 1 1 USP3|CCDS32265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP3|CCDS32265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 20 3 20 0 0 ./. 0 8 0 11 7 36 7 36 0 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690372980 15 67780289 AG A 420 PASS IQCH CCDS32273.1 r.? - - Del intronic D 67780289 67780292 1 18 376.387 - - 2 1 1 IQCH|CCDS32273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IQCH|CCDS32273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 2 6 3 51 47 51 47 6 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690376457 15 77071014 ATACATATATACTTATATACCTATAGTTTAAGTATGTT A 522 PASS SCAPER ENST00000303521 r.? - - Del intronic D 77071014 77071053 37 91 973.444 - - 1 1 - SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 12 4 4 21 28 23 31 6 12 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690383319 15 95720330 T TA 600 PASS - - - - - Ins - I 95720330 95720338 1 27 535.116 - - 7 1 1 - - ./. 0 0 0 0 14 9 15 9 0 0 ./. 2 8 4 10 27 38 27 38 4 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690384917 15 99792704 G GT 660 PASS LRRC28 CCDS10380.1 r.? - - Ins intronic I 99792704 99792709 1 42 588.628 - - 4 1 1 LRRC28|CCDS10380.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LRRC28|CCDS10380.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 5 6 8 6 31 41 34 42 8 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690386063 16 259541 C CTACTT 569 PASS LUC7L CCDS10401.1 r.? - - Ins intronic I 259541 259542 5 32 510.343 - - 0 1 1 LUC7L|CCDS10401.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LUC7L|CCDS10401.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 7 8 7 54 71 55 71 8 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690388012 16 4506543 GA G 689 PASS DNAJA3 CCDS10515.1 r.2531delA c.? p.? Del 3'UTR variant D 4506543 4506546 1 45 649.258 - - 2 1 1 DNAJA3|CCDS10515.1|r.2531delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 DNAJA3|CCDS10515.1|r.2531delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 10 15 10 0 0 ./. 8 4 8 6 35 42 35 42 8 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690396819 16 23071993 AC A 360 PASS USP31 CCDS10607.1 r.? - - Del downstream D 23071993 23071998 1 12 324.629 - - 4 1 1 USP31|CCDS10607.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 USP31|CCDS10607.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 1 6 3 45 34 45 34 6 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690396984 16 23330380 TG T 269 PASS SCNN1B CCDS10609.1 r.? - - Del intronic D 23330380 23330382 1 6 250.656 - - 1 1 1 SCNN1B|CCDS10609.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SCNN1B|CCDS10609.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 20 9 20 0 0 ./. 5 0 5 0 54 43 54 43 5 0 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690402582 16 33607491 GCA G 360 PASS - - - - - Del - D 33607491 33607508 2 15 323.425 - - 8 1 - - - ./. 0 0 0 0 17 27 17 27 0 0 ./. 2 4 3 3 49 76 49 76 3 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690405521 16 50545178 AAC A 300 PASS - - - - - Del - D 50545178 50545198 2 12 270.524 - - 9 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 2 3 3 5 68 58 68 58 3 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690407196 16 56785165 A AT 780 PASS NUP93 CCDS10769.1 r.? - - Ins intronic I 56785165 56785172 1 56 695.536 - - 6 1 1 NUP93|CCDS10769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUP93|CCDS10769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 19 13 0 0 ./. 6 7 8 8 22 19 22 19 8 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690428062 17 31103387 CGT C 300 PASS MYO1D CCDS32615.1 r.? - - Del intronic D 31103387 31103403 2 6 270.674 - - 7 1 - MYO1D|CCDS32615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO1D|CCDS32615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 0 5 0 24 22 24 22 5 0 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690428682 17 33590158 A AT 480 PASS SLFN5 CCDS32619.1 r.? - - Ins intronic I 33590158 33590168 1 24 428.262 - - 9 1 1 SLFN5|CCDS32619.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLFN5|CCDS32619.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 5 6 7 28 27 29 27 6 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690431273 17 40724087 G GT 540 PASS MLX CCDS11430.1 r.1428_1429insu c.? p.? Ins 3'UTR variant I 40724087 40724089 1 30 480.591 - - 1 1 1 MLX|CCDS11430.1|r.1428_1429insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 MLX|CCDS11430.1|r.1428_1429insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 6 13 6 15 0 0 ./. 4 5 5 9 26 33 27 33 5 9 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690437116 17 56190236 G GT 420 PASS - - - - - Ins - I 56190236 56190245 1 20 374.729 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 11 0 0 ./. 4 3 5 7 24 36 24 36 5 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690443371 17 72748371 T TGAGACCA 464 PASS RAB37 CCDS32722.1 r.? - - Ins downstream I 72748371 72748380 7 80 788.491 - - 1 1 1 RAB37|CCDS32722.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SLC9A3R1|CCDS11705.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 20 7 20 0 0 ./. 7 9 7 10 21 34 21 34 7 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690448873 18 5138053 TC T 960 PASS - - - - - Del - D 5138053 5138055 1 81 867.384 - - 1 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 8 8 10 9 28 30 28 30 10 9 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690457868 18 36262224 AG A 780 PASS - - - - - Del - D 36262224 36262226 1 56 705.239 - - 1 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 6 7 6 8 13 21 13 21 6 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690459280 18 41441087 A AT 660 PASS - - - - - Ins - I 41441087 41441094 1 36 590.118 - - 6 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 8 3 9 3 19 16 19 16 9 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690472629 19 7637002 GGT G 360 PASS - - - - - Del - D 7637002 7637005 2 7 311.95 - - 1 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 6 0 6 0 32 29 32 29 6 0 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690474693 19 12474851 G GT 360 PASS ZNF442 CCDS12271.1 r.? - - Ins intronic I 12474851 12474859 1 16 321.583 - - 7 1 1 ZNF442|CCDS12271.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF442|CCDS12271.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 19 10 20 0 0 ./. 3 3 6 7 22 33 23 33 6 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690484627 19 39344052 AAAAC A 313 PASS HNRNPL CCDS33015.1 r.? - - Del upstream D 39344052 39344063 4 24 433.593 - - 2 1 1 HNRNPL|CCDS33015.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HNRNPL|CCDS33015.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 3 6 5 18 21 18 21 6 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690486777 19 45278202 T TTTTTG 300 PASS CBLC CCDS12643.1 r.? - - Ins upstream I 45278202 45278237 5 6 254.74 - - 6 1 - CBLC|CCDS12643.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CBLC|CCDS12643.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 2 15 2 15 0 0 ./. 0 5 0 8 7 46 8 46 0 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690495812 2 9925007 TAAAAG T 447 PASS - - - - - Del - D 9925007 9925018 5 30 480.668 - - 2 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 4 5 5 7 30 28 30 28 5 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690499299 2 21097689 C CT 1140 PASS - - - - - Ins - I 21097689 21097696 1 98 1006.65 - - 6 1 1 - - ./. 0 0 0 0 15 30 15 32 0 0 ./. 6 13 10 16 37 50 37 51 10 16 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690501781 2 28464750 TC T 300 PASS BRE CCDS1764.1 r.? - - Del intronic D 28464750 28464752 1 6 254.863 - - 1 1 1 BRE|CCDS1764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRE|CCDS1764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 5 0 8 0 20 23 20 23 8 0 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690502388 2 30184730 GA G 480 PASS - - - - - Del - D 30184730 30184733 1 21 423.313 - - 2 1 1 - - ./. 0 0 0 0 13 23 13 23 0 0 ./. 6 2 10 7 29 21 29 21 10 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690510317 2 53752719 TCCATGTCCAAG T 406 PASS - - - - - Del - D 53752719 53752733 11 48 749.378 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 11 3 11 18 35 18 35 3 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690512342 2 60546214 T TC 780 PASS - - - - - Ins - I 60546214 60546219 1 56 688.411 - - 4 1 1 - - ./. 0 0 0 0 11 20 11 22 0 0 ./. 6 7 6 10 34 28 34 28 6 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690524267 2 100563987 AAG A 660 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100563987 100563991 2 42 591.162 - - 1 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 5 6 6 13 29 40 29 40 6 13 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690525245 2 104200193 CTT C 600 PASS - - - - - Del - D 104200193 104200196 2 35 537.42 - - 2 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 4 9 4 26 17 26 17 9 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690529431 2 118904372 GC G 420 PASS - - - - - Del - D 118904372 118904376 1 20 376.194 - - 3 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 4 6 4 24 16 24 16 6 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690530032 2 121025369 A AT 660 PASS RALB CCDS2131.1 r.? - - Ins intronic I 121025369 121025371 1 42 583.335 - - 1 1 1 RALB|CCDS2131.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RALB|CCDS2131.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 10 0 0 ./. 5 6 7 7 26 24 26 24 7 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690536201 2 139633635 C CT 300 PASS - - - - - Ins - I 139633635 139633642 1 12 265.7 - - 6 1 1 - - ./. 0 0 0 0 10 9 11 9 0 0 ./. 3 2 6 3 31 14 31 14 6 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690541342 2 155844037 AAGCAT A 1256 PASS - - - - - Del - D 155844037 155844044 5 154 1236.07 - - 1 1 1 - - ./. 0 0 0 0 7 27 7 27 0 0 ./. 13 10 14 10 33 28 33 28 14 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690543386 2 162228959 ACAT A 389 PASS PSMD14 CCDS46437.1 r.? - - Del intronic D 162228959 162228966 3 20 376.194 - - 2 1 1 PSMD14|CCDS46437.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSMD14|CCDS46437.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 4 6 5 20 30 20 30 6 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690544857 2 167804726 TTG T 420 PASS XIRP2 CCDS42769.1 r.? - - Del intronic D 167804726 167804733 2 8 375.592 - - 3 1 1 XIRP2|CCDS42769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XIRP2|CCDS42769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 24 26 24 0 0 ./. 0 7 3 10 20 29 20 29 3 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690547750 2 175901151 A AT 600 PASS - - - - - Ins - I 175901151 175901154 1 32 531.399 - - 2 1 1 - - ./. 0 0 0 0 9 25 9 25 0 0 ./. 7 3 10 3 32 19 33 19 10 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690549674 2 182725370 T TTCCTTATTGCCTAAC 290 PASS - - - - - Ins - I 182725370 182725386 15 35 447.111 - - 1 1 1 - - ./. 0 0 0 0 14 24 14 24 0 0 ./. 4 6 3 5 25 39 27 41 4 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690558228 2 209907773 G GA 629 PASS - - - - - Ins - I 209907773 209907782 1 42 577.314 - - 8 1 1 - - ./. 0 0 0 0 26 21 27 21 0 0 ./. 6 5 12 5 38 25 38 25 12 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690570192 20 2900364 T TA 929 PASS PTPRA CCDS13038.1 r.? - - Ins intronic I 2900364 2900368 1 65 859.309 - - 3 1 1 PTPRA|CCDS13038.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTPRA|CCDS13038.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 12 7 21 30 36 31 36 7 21 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690572390 20 8832312 CA C 574 PASS PLCB1 CCDS13103.1 r.? - - Del intronic D 8832312 8832314 1 40 593.785 - - 1 1 1 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 4 7 4 11 20 30 20 30 4 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690572559 20 9574453 ATC A 300 PASS PAK7 CCDS13107.1 r.? - - Del intronic D 9574453 9574473 2 10 271.544 - - 9 1 - PAK7|CCDS13107.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAK7|CCDS13107.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 9 22 9 0 0 ./. 1 4 1 4 38 24 38 24 1 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690576369 20 22192215 C CA 300 PASS - - - - - Ins - I 22192215 22192225 1 12 263.116 - - 9 1 1 - - ./. 0 0 0 0 25 18 25 18 0 0 ./. 3 2 3 2 35 39 35 39 3 2 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690576750 20 23844025 A AT 660 PASS - - - - - Ins - I 23844025 23844033 1 40 587.765 - - 7 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 7 4 8 4 32 22 32 24 8 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690584112 20 46158763 TTGCAAC T 522 PASS NCOA3 CCDS13406.1 r.? - - Del intronic D 46158763 46158774 6 75 977.56 - - 1 1 1 NCOA3|CCDS13406.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NCOA3|CCDS13406.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 14 6 18 26 37 26 37 6 18 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690585576 20 50075775 TG T 1020 PASS NFATC2 CCDS33488.1 r.? - - Del intronic D 50075775 50075778 1 90 920.843 - - 2 1 1 NFATC2|CCDS33488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFATC2|CCDS33488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 9 8 12 9 33 27 33 27 12 9 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690589227 20 60949509 TAGGACACCAGCTGGTGGTTCCTCAAA T 406 PASS - - - - - Del - D 60949509 60949536 26 55 758.518 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 10 4 12 30 26 30 27 4 13 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690592994 21 11074276 CA C 665 PASS - - - - - Del - D 11074276 11074278 1 45 652.248 - - 1 1 1 - - ./. 0 0 0 0 28 121 28 121 0 0 ./. 4 8 4 11 64 197 64 197 4 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690595283 21 19166052 A AT 629 PASS C21orf91 CCDS42907.1 r.? - - Ins intronic I 19166052 19166054 1 42 590.669 - - 1 1 1 C21orf91|CCDS42907.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C21orf91|CCDS42907.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 11 24 11 0 0 ./. 5 6 7 8 24 39 26 39 7 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690600742 21 33502399 A AAG 300 PASS - - - - - Ins - I 33502399 33502405 2 10 243.473 - - 2 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 1 5 1 22 19 22 20 5 1 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690611446 22 29865831 CT C 360 PASS - - - - - Del - D 29865831 29865833 1 12 324.197 - - 1 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 1 5 4 5 24 21 24 21 4 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690624863 3 16207953 A AT 300 PASS - - - - - Ins - I 16207953 16207963 1 6 266.178 - - 9 1 1 - - ./. 0 0 0 0 9 23 9 23 0 0 ./. 0 5 0 5 26 41 27 41 0 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690631714 3 39444715 C CCA 269 PASS SNORA62 CCDS2686.1 r.? - - Ins upstream I 39444715 39444716 2 10 255.943 - - 0 1 - SNORA62|CCDS2686.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SNORA62|CCDS2686.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 15 8 16 8 0 0 ./. 4 1 0 0 23 25 24 25 4 1 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690633500 3 45337283 AAT A 300 PASS - - - - - Del - D 45337283 45337298 2 12 267.984 - - 7 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 2 3 11 30 11 30 2 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690635450 3 51388091 C CA 660 PASS DOCK3 CCDS46835.1 r.? - - Ins intronic I 51388091 51388093 1 42 585.591 - - 1 1 1 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 6 5 9 6 26 14 26 14 9 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690639914 3 65530056 G GA 720 PASS MAGI1 CCDS33781.1 r.? - - Ins intronic I 65530056 65530058 1 40 637.021 - - 1 1 1 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 21 15 0 0 ./. 9 3 11 5 28 15 28 15 11 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690643000 3 75280328 G GA 756 PASS - - - - - Ins - I 75280328 75280338 1 56 681.827 - - 9 1 1 - - ./. 0 0 0 0 13 7 14 7 0 0 ./. 7 6 13 7 30 36 30 37 13 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690644888 3 78074316 TC T 720 PASS - - - - - Del - D 78074316 78074318 1 49 646.051 - - 1 1 1 - - ./. 0 0 0 0 18 23 18 23 0 0 ./. 6 6 7 8 28 27 28 27 7 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690648307 3 89751663 A AGC 360 PASS - - - - - Ins - I 89751663 89751666 2 15 315.801 - - 1 1 1 - - ./. 0 0 0 0 23 15 23 15 0 0 ./. 2 4 3 4 16 21 16 21 3 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690658718 3 127920590 TGCTTTCTATGTTC T 319 PASS EEFSEC CCDS33849.1 r.? - - Del intronic D 127920590 127920604 13 42 591.612 - - 1 1 1 EEFSEC|CCDS33849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EEFSEC|CCDS33849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 6 5 7 5 29 29 29 29 7 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690659418 3 130152627 CTTG C 1046 PASS COL29A1 ENST00000312481 r.? - - Del intronic D 130152627 130152636 3 100 966.669 - - 2 1 1 COL29A1|ENST00000312481|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL29A1|ENST00000312481|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 9 9 11 10 26 21 26 21 11 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690662678 3 140734404 G GA 300 PASS - - - - - Ins - I 140734404 140734414 1 12 263.77 - - 9 1 1 - - ./. 0 0 0 0 14 17 15 17 0 0 ./. 2 3 3 3 33 28 33 29 3 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690666056 3 150639598 GAC G 360 PASS CLRN1 CCDS3153.1 r.? - - Del downstream D 150639598 150639616 2 12 320.015 - - 8 1 - CLRN1|CCDS3153.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CLRN1|CCDS3153.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 1 5 1 31 19 31 19 5 1 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690668434 3 158449994 TGAA T 298 PASS RARRES1 CCDS3184.1 r.489_491delUUC c.208_210delTTC p.F70delF Del inframe D 158449994 158450002 3 15 308.576 - - 2 1 1 RARRES1|CCDS3184.1|r.489_491delUUC|c.208_210delTTC|p.F70delF|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 RARRES1|CCDS3184.1|r.489_491delUUC|c.208_210delTTC|p.F70delF|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 21 15 21 15 0 0 ./. 2 4 6 7 31 26 31 26 6 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690676841 3 185430300 CT C 840 PASS IGF2BP2 CCDS3273.2 r.? - - Del intronic D 185430300 185430302 1 64 753.727 - - 1 1 1 IGF2BP2|CCDS3273.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGF2BP2|CCDS3273.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 7 7 7 7 26 23 26 23 7 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690680690 3 196514686 ACACTTATTGCTCCTACCTGGAAGCTGAAACACAGCCCAGT A 319 PASS PAK2 CCDS3321.1 r.? - - Del intronic D 196514686 196514731 40 42 592.214 - - 1 1 1 PAK2|CCDS3321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAK2|CCDS3321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 12 5 12 0 0 ./. 6 5 0 0 27 23 29 25 6 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690685337 4 12040206 TA T 1140 PASS - - - - - Del - D 12040206 12040208 1 108 1016.53 - - 1 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 8 11 14 13 30 36 30 36 14 13 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690685540 4 12651556 TAGTG T 627 PASS - - - - - Del - D 12651556 12651568 4 40 645.822 - - 2 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 9 5 9 21 29 21 29 5 9 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690688165 4 21140907 GA G 360 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 21140907 21140909 1 16 322.911 - - 1 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 3 3 6 20 30 20 30 3 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690688345 4 21584769 AT A 600 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 21584769 21584771 1 36 538.185 - - 1 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 5 7 6 20 24 20 24 7 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690695491 4 41457789 T TAA 1049 PASS LIMCH1 CCDS33977.1 r.? - - Ins intronic I 41457789 41457791 2 100 938.63 - - 1 1 1 LIMCH1|CCDS33977.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LIMCH1|CCDS33977.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 16 21 16 0 0 ./. 9 9 10 13 34 28 35 28 10 13 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690696980 4 46723674 AC A 413 PASS - - - - - Del - D 46723674 46723681 1 18 376.73 - - 6 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 5 2 8 7 25 22 25 22 8 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690700567 4 57850442 C CT 1140 PASS POLR2B CCDS3511.1 r.? - - Ins intronic I 57850442 57850444 1 110 1006.9 - - 1 1 1 POLR2B|CCDS3511.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 POLR2B|CCDS3511.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 9 10 12 11 31 28 31 28 12 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690702720 4 64296000 T TA 360 PASS - - - - - Ins - I 64296000 64296010 1 16 311.472 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 3 3 7 16 29 16 30 3 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690702869 4 64742266 GT G 540 PASS - - - - - Del - D 64742266 64742269 1 28 484.367 - - 2 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 6 3 8 5 28 15 28 15 8 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690710325 4 88057950 TA T 720 PASS AFF1 CCDS3616.1 r.5151delA c.? p.? Del 3'UTR variant D 88057950 88057952 1 49 645.822 - - 1 1 1 AFF1|CCDS3616.1|r.5151delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 AFF1|CCDS3616.1|r.5151delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 18 11 18 11 0 0 ./. 6 6 12 8 35 29 35 29 12 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690710767 4 89135844 C CA 509 PASS ABCG2 ENST00000515655 r.? - - Ins intronic I 89135844 89135853 1 28 474.734 - - 8 1 1 ABCG2|ENST00000515655|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ABCG2|ENST00000515655|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 20 14 21 0 0 ./. 6 3 12 7 37 37 37 37 12 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690711305 4 91394804 CTGTT C 329 PASS FAM190A CCDS47100.1 r.? - - Del intronic D 91394804 91394814 4 15 322.911 - - 2 1 1 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 2 5 3 26 22 26 22 5 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690716386 4 109844178 GAC G 300 PASS COL25A1 CCDS43258.1 r.? - - Del intronic D 109844178 109844193 2 12 269.093 - - 7 1 1 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 3 2 4 2 22 39 22 39 4 2 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690716787 4 111136347 G GA 300 PASS - - - - - Ins - I 111136347 111136357 1 12 263.072 - - 9 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 3 2 3 1 31 29 31 29 3 2 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690719702 4 119801595 A AT 809 PASS - - - - - Ins - I 119801595 119801600 1 60 743.826 - - 4 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 9 6 11 26 32 26 33 6 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690732220 4 160122701 TTGGCATAATC T 261 PASS RAPGEF2 ENST00000505478 r.? - - Del intronic D 160122701 160122712 10 28 483.163 - - 1 1 1 RAPGEF2|ENST00000505478|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAPGEF2|ENST00000505478|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 6 3 8 3 28 18 28 18 8 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690732697 4 161336778 GCA G 269 PASS - - - - - Del - D 161336778 161336795 2 12 255.847 - - 8 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 3 2 3 26 29 26 29 2 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690733275 4 162731291 T TA 300 PASS FSTL5 CCDS3802.1 r.? - - Ins intronic I 162731291 162731299 1 12 266.082 - - 7 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 3 3 27 35 27 37 3 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690735957 4 170635439 T TG 660 PASS CLCN3 CCDS34100.1 r.? - - Ins intronic I 170635439 170635440 1 40 581.769 - - 0 1 1 CLCN3|CCDS34100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLCN3|CCDS34100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 4 7 5 10 33 30 33 31 5 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690741583 4 186135961 CAA C 694 PASS SNX25 CCDS34116.1 r.? - - Del intronic D 186135961 186135965 2 36 699.641 - - 3 1 1 SNX25|CCDS34116.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SNX25|CCDS34116.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 2 11 3 14 14 32 14 32 3 14 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690744916 5 984125 ATCTT A 689 PASS ENSG00000250173 ENST00000511936 r.? - - Del downstream D 984125 984143 4 49 643.688 - - 4 1 1 ENSG00000250173|ENST00000511936|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000250173|ENST00000511936|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 15 15 15 0 0 ./. 6 6 6 7 22 25 22 25 6 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690758040 5 38113144 GAC G 540 PASS - - - - - Del - D 38113144 38113154 2 28 485.023 - - 4 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 6 3 7 6 26 30 26 30 7 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690758482 5 39585025 CAATGGAATTTCTTCTCTGTAAAAA C 435 PASS - - - - - Del - D 39585025 39585053 24 72 806.566 - - 1 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 8 7 7 5 29 27 30 29 8 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690759040 5 41408272 TCATATGAATTTATTTTTAAAGATTATCAGCAGGGCTTCCAGAAAAAGAATTATAAGAGACCCAGGTATTACCAATGCTGCTCTTTCAAGGCCCACACTTTGAATGTGAGGTATTAAGGTAATACAGACATCTTCTTGCTCATCAACTACTCATTA T 290 PASS PLCXD3 CCDS34150.1 r.? - - Del intronic D 41408272 41408431 155 35 538.915 - - 1 1 1 PLCXD3|CCDS34150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCXD3|CCDS34150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 4 6 0 0 17 27 21 33 4 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690761943 5 54375882 GT G 449 PASS - - - - - Del - D 54375882 54375886 1 32 537.711 - - 3 1 1 - - ./. 0 0 0 0 19 33 19 33 0 0 ./. 3 7 7 12 26 36 26 36 7 12 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690778853 5 111648737 ATT A 843 PASS EPB41L4A CCDS43350.1 r.? - - Del intronic D 111648737 111648741 2 77 862.264 - - 3 1 1 EPB41L4A|CCDS43350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPB41L4A|CCDS43350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 16 25 16 0 0 ./. 10 6 11 7 31 23 31 23 11 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690780253 5 116063285 CTG C 420 PASS - - - - - Del - D 116063285 116063289 2 20 376.638 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 4 6 7 29 19 29 19 6 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690780901 5 118279983 A AT 780 PASS DTWD2 ENST00000304058 r.? - - Ins intronic I 118279983 118279990 1 50 692.763 - - 6 1 1 DTWD2|ENST00000304058|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 DTWD2|ENST00000304058|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 24 22 24 0 0 ./. 9 4 14 4 39 27 39 27 14 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690784051 5 128718008 C CT 900 PASS - - - - - Ins - I 128718008 128718011 1 66 799.342 - - 2 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 10 7 11 31 33 31 33 7 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690787911 5 141597997 A AT 480 PASS - - - - - Ins - I 141597997 141597999 1 21 425.111 - - 1 1 - - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 6 2 8 5 28 31 29 32 8 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690788120 5 142238155 CTTAT C 360 PASS ARHGAP26 CCDS47297.1 r.? - - Del intronic D 142238155 142238171 4 15 323.349 - - 3 1 1 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 4 5 5 27 34 27 34 5 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690791002 5 152194864 TTA T 420 PASS - - - - - Del - D 152194864 152194872 2 14 376.638 - - 3 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 1 6 3 9 15 33 15 33 3 9 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690791783 5 154566609 AAATC A 563 PASS - - - - - Del - D 154566609 154566616 4 56 698.783 - - 1 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 7 6 10 6 21 28 21 28 10 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690794189 5 162296070 GC G 480 PASS - - - - - Del - D 162296070 162296073 1 21 431.132 - - 2 1 1 - - ./. 0 0 0 0 23 2 23 2 0 0 ./. 6 2 10 2 31 9 31 9 10 2 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690810733 6 27361446 CA C 1020 PASS ZNF391 CCDS43429.1 r.? - - Del intronic D 27361446 27361448 1 90 915.304 - - 1 1 1 ZNF391|CCDS43429.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF391|CCDS43429.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 9 8 10 11 25 23 25 23 10 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690812321 6 31202816 TATA T 468 PASS - - - - - Del - D 31202816 31202823 3 28 485.529 - - 2 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 6 3 8 7 28 32 28 32 8 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690834217 6 107268776 TTC T 360 PASS - - - - - Del - D 107268776 107268794 2 16 323.686 - - 8 1 - - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 3 4 18 24 18 24 3 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690841586 6 137258545 G GA 478 PASS - - - - - Ins - I 137258545 137258555 1 30 474.09 - - 9 1 1 - - ./. 0 0 0 0 17 15 18 15 0 0 ./. 5 4 6 5 26 14 26 14 6 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690841980 6 139002174 CT C 660 PASS - - - - - Del - D 139002174 139002181 1 42 593.424 - - 6 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 5 9 7 21 18 21 18 9 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690842621 6 141640270 C CA 780 PASS - - - - - Ins - I 141640270 141640279 1 56 692.288 - - 8 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 7 6 11 7 27 15 27 16 11 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690843007 6 143400221 AAG A 300 PASS AIG1 CCDS5198.1 r.? - - Del intronic D 143400221 143400238 2 6 265.524 - - 8 1 1 AIG1|CCDS5198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AIG1|CCDS5198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 0 5 0 5 16 22 16 22 0 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690844285 6 149257657 CAT C 420 PASS UST CCDS5213.1 r.? - - Del intronic D 149257657 149257660 2 20 376.429 - - 1 1 1 UST|CCDS5213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UST|CCDS5213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 22 13 22 0 0 ./. 3 4 5 5 13 16 13 16 5 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690852638 7 6414191 G GT 494 PASS RAC1 CCDS5349.1 r.22_23insu c.? p.? Ins 5'UTR variant I 6414191 6414193 1 28 479.095 - - 1 1 1 RAC1|CCDS5349.1|r.22_23insu|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 RAC1|CCDS5349.1|r.22_23insu|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 3 11 6 35 22 36 22 11 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690853436 7 8862153 TG T 540 PASS - - - - - Del - D 8862153 8862162 1 30 481.503 - - 8 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 4 5 7 26 23 26 23 5 7 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690855254 7 14220685 T TA 420 PASS DGKB CCDS47547.1 r.? - - Ins intronic I 14220685 14220693 1 20 373.098 - - 7 1 1 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 3 7 4 16 20 16 20 7 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690856058 7 16796818 TA T 1080 PASS TSPAN13 CCDS5363.1 r.? - - Del intronic D 16796818 16796822 1 99 970.231 - - 3 1 1 TSPAN13|CCDS5363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSPAN13|CCDS5363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 8 10 9 13 20 45 20 45 9 13 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690861704 7 33997780 GA G 840 PASS BMPER CCDS5442.1 r.? - - Del intronic D 33997780 33997786 1 63 754.624 - - 5 1 1 BMPER|CCDS5442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BMPER|CCDS5442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 8 6 11 8 26 29 26 29 11 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690863163 7 38599522 AACCAGTCC A 435 PASS AMPH CCDS5456.1 r.? - - Del intronic D 38599522 38599533 8 70 808.526 - - 1 1 1 AMPH|CCDS5456.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AMPH|CCDS5456.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 6 9 7 10 26 30 26 30 7 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690863971 7 40756589 G GA 300 PASS C7orf10 ENST00000309930 r.? - - Ins intronic I 40756589 40756599 1 10 253.253 - - 9 1 1 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 5 23 5 0 0 ./. 4 1 4 1 41 18 41 18 4 1 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690871160 7 62166575 CAG C 660 PASS - - - - - Del - D 62166575 62166580 2 40 592.919 - - 2 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 7 4 12 6 36 26 36 26 12 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690879189 7 84052895 AATAG A 629 PASS SEMA3A ENST00000424555 r.? - - Del intronic D 84052895 84052904 4 40 592.317 - - 2 1 1 SEMA3A|ENST00000424555|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SEMA3A|ENST00000424555|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 7 7 11 21 31 21 31 7 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690881499 7 92338562 T TA 600 PASS CDK6 CCDS5628.1 r.? - - Ins intronic I 92338562 92338569 1 32 529.986 - - 6 1 1 CDK6|CCDS5628.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDK6|CCDS5628.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 7 3 10 8 25 24 25 24 10 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690884421 7 101514601 C CCT 269 PASS CUX1 CCDS5721.1 r.? - - Ins intronic I 101514601 101514602 2 10 259.876 - - 0 1 1 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 1 4 1 2 26 31 26 31 2 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690884951 7 103032568 GAGTACATGCCAGTGTCTTCCTGGGGCA G 319 PASS SLC26A5 CCDS5733.1 r.? - - Del intronic D 103032568 103032599 27 36 592.317 - - 1 1 1 SLC26A5|CCDS5733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC26A5|CCDS5733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 8 3 6 2 28 14 30 15 8 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690892167 7 127489078 AGTT A 387 PASS SND1 CCDS34747.1 r.? - - Del intronic D 127489078 127489085 3 24 431.214 - - 2 1 1 SND1|CCDS34747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SND1|CCDS34747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 24 17 24 0 0 ./. 3 5 6 6 20 20 20 20 6 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690915643 8 41334470 G GC 300 PASS - - - - - Ins - I 41334470 41334475 1 12 253.432 - - 4 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 3 3 6 66 59 67 60 3 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690915817 8 41731404 TGGCCTTGGCTGGACAAGTTA T 319 PASS ANK1 CCDS47849.1 r.? - - Del intronic D 41731404 41731425 20 36 591.507 - - 1 1 1 ANK1|CCDS47849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANK1|CCDS47849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 8 3 6 42 44 42 46 3 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690915915 8 41933706 G GT 300 PASS - - - - - Ins - I 41933706 41933715 1 6 266.678 - - 8 1 1 - - ./. 0 0 0 0 10 17 11 17 0 0 ./. 5 0 10 4 71 44 72 44 10 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690922666 8 64542426 CT C 1020 PASS - - - - - Del - D 64542426 64542435 1 90 916.939 - - 8 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 8 9 12 12 32 33 32 33 12 12 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690931266 8 90427966 G GTTGTATGC 406 PASS - - - - - Ins - I 90427966 90427975 8 63 687.695 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 8 6 7 6 40 43 44 44 8 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690934825 8 101043854 C CT 545 PASS RGS22 CCDS43758.1 r.? - - Ins intronic I 101043854 101043857 1 35 533.355 - - 2 1 1 RGS22|CCDS43758.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RGS22|CCDS43758.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 26 13 26 0 0 ./. 4 6 4 9 36 49 37 50 4 9 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690941830 8 122336328 TC T 960 PASS - - - - - Del - D 122336328 122336332 1 72 860.593 - - 3 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 11 5 13 8 43 34 43 34 13 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690949792 8 145012986 AG A 1169 PASS PLEC CCDS43772.1 r.? - - Del intronic D 145012986 145012988 1 120 1065.51 - - 1 1 1 PLEC|CCDS43772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLEC|CCDS43772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 11 9 14 13 36 30 36 30 14 13 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690952419 9 6974281 AT A 1140 PASS KDM4C CCDS6471.1 r.? - - Del intronic D 6974281 6974286 1 108 1025.49 - - 4 1 1 KDM4C|CCDS6471.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KDM4C|CCDS6471.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 8 11 8 14 31 46 31 46 8 14 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690953835 9 11130360 C CT 360 PASS - - - - - Ins - I 11130360 11130370 1 15 320.606 - - 9 1 1 - - ./. 0 0 0 0 9 23 9 23 0 0 ./. 2 4 5 8 16 39 17 39 5 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690954349 9 12840772 AGGCTGAGGTTG A 319 PASS - - - - - Del - D 12840772 12840785 11 40 593.197 - - 1 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 7 5 8 29 23 29 23 5 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690954902 9 14478389 TACAGA T 329 PASS - - - - - Del - D 14478389 14478399 5 15 324.219 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 4 4 5 31 25 31 25 4 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690968753 9 75828319 CAG C 300 PASS - - - - - Del - D 75828319 75828335 2 12 270.182 - - 7 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 3 2 3 30 28 30 28 2 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690969336 9 77627892 CT C 989 PASS C9orf41 CCDS6649.1 r.? - - Del intronic D 77627892 77627895 1 78 911.997 - - 2 1 1 C9orf41|CCDS6649.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9orf41|CCDS6649.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 12 5 16 5 34 19 34 19 16 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690971676 9 85628116 GAAC G 300 PASS RASEF CCDS6662.1 r.? - - Del intronic D 85628116 85628143 3 10 270.182 - - 8 1 - RASEF|CCDS6662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASEF|CCDS6662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 1 4 2 25 36 25 36 4 2 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690972937 9 89501004 ATC A 720 PASS - - - - - Del - D 89501004 89501012 2 49 644.825 - - 3 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 6 6 6 8 25 34 25 34 6 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690973696 9 91685600 ACT A 300 PASS SHC3 CCDS6681.1 r.? - - Del intronic D 91685600 91685617 2 12 267.172 - - 8 1 1 SHC3|CCDS6681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHC3|CCDS6681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 3 2 4 30 26 30 26 2 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690975266 9 97499416 C CT 629 PASS MIR24-1 CCDS6713.1 r.? - - Ins intronic I 97499416 97499426 1 42 581.758 - - 9 1 1 MIR24-1|CCDS6713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MIR24-1|CCDS6713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 14 22 14 0 0 ./. 5 6 10 9 39 37 39 37 10 9 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690977552 9 105589802 GT G 360 PASS - - - - - Del - D 105589802 105589805 1 16 324.219 - - 2 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 3 4 5 21 25 21 25 4 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690983858 9 124483716 CTGGGAGAAGGATTGATGTGTTG C 319 PASS DAB2IP CCDS6833.2 r.? - - Del intronic D 124483716 124483743 22 40 591.993 - - 1 1 1 DAB2IP|CCDS6833.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAB2IP|CCDS6833.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 7 4 0 0 35 23 37 24 7 4 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690988804 9 138504583 GAGTC G 449 PASS - - - - - Del - D 138504583 138504590 4 25 432.292 - - 1 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 4 6 5 22 25 22 25 6 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690992198 X 12275426 G GT 780 PASS FRMPD4 CCDS35201.1 r.? - - Ins intronic I 12275426 12275435 1 56 693.356 - - 8 1 1 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 7 6 8 10 33 38 33 38 8 10 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690993125 X 15796874 AAG A 300 PASS INE2 CCDS14171.1 r.? - - Del intronic D 15796874 15796890 2 12 270.38 - - 7 1 1 INE2|CCDS14171.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INE2|CCDS14171.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 2 3 3 29 33 29 33 3 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690993279 X 16290576 CTT C 1140 PASS - - - - - Del - D 16290576 16290581 2 110 1024.43 - - 4 1 1 - - ./. 0 0 0 0 7 20 7 20 0 0 ./. 9 10 13 12 27 36 27 36 13 12 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690996161 X 28625736 G GT 1260 PASS IL1RAPL1 CCDS14218.1 r.? - - Ins intronic I 28625736 28625738 1 132 1119.94 - - 1 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 23 20 23 0 0 ./. 11 10 16 11 34 27 34 27 16 11 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2690997262 X 33215558 GGT G 300 PASS DMD CCDS14233.1 r.? - - Del intronic D 33215558 33215577 2 12 266.166 - - 9 1 - DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 2 3 2 3 22 23 22 23 2 3 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2691001422 X 50746165 GA G 420 PASS - - - - - Del - D 50746165 50746170 1 20 378.532 - - 4 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 4 3 6 24 28 24 28 3 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2691002920 X 57482213 TGTAGAA T 406 PASS FAAH2 CCDS14375.1 r.? - - Del intronic D 57482213 57482223 6 60 757.065 - - 1 1 1 FAAH2|CCDS14375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAAH2|CCDS14375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 19 27 19 0 0 ./. 5 9 10 9 28 24 28 24 10 9 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2691005665 X 74213794 TG T 696 PASS - - - - - Del - D 74213794 74213797 1 48 648.913 - - 2 1 1 - - ./. 0 0 0 0 26 23 26 23 0 0 ./. 5 7 6 9 24 29 24 29 6 9 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2691006038 X 75751463 CT C 480 PASS - - - - - Del - D 75751463 75751470 1 24 432.006 - - 6 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 5 3 9 6 31 31 31 31 9 6 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2691014351 X 112202603 C CA 720 PASS - - - - - Ins - I 112202603 112202612 1 49 639.882 - - 8 1 - - - ./. 0 0 0 0 27 7 28 8 0 0 ./. 6 6 9 8 26 32 26 32 9 8 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2691018058 X 126004197 TA T 480 PASS - - - - - Del - D 126004197 126004199 1 25 432.006 - - 1 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 4 4 6 5 26 29 26 29 6 5 1 1 1 1 1 1 1 1 2627072 PD13353a PD13353b 2691021372 X 140697373 CTTA C 749 PASS - - - - - Del - D 140697373 140697377 3 44 702.989 - - 1 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 10 3 12 6 33 26 33 26 12 6 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694483538 1 985800 AC A 598 PASS AGRN CCDS30551.1 r.5027-6delc c.4977-6delc p.? Del splice region D 985800 985805 1 42 589.194 - - 4 1 1 AGRN|CCDS30551.1|r.5027-6delc|c.4977-6delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 AGRN|CCDS30551.1|r.5027-6delc|c.4977-6delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 6 9 8 22 19 22 19 9 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694483541 1 988993 TCG T 480 PASS AGRN CCDS30551.1 r.? - - Del intronic D 988993 988996 2 24 428.341 - - 1 1 1 AGRN|CCDS30551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGRN|CCDS30551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 5 6 9 15 24 15 24 6 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694486686 1 11170265 T TCA 1500 PASS MTOR CCDS127.1 r.? - - Ins intronic I 11170265 11170274 2 180 1310.34 - - 4 1 1 MTOR|CCDS127.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTOR|CCDS127.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 11 14 11 15 41 41 41 42 11 15 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694491329 1 25092500 GT G 660 PASS CLIC4 CCDS256.1 r.? - - Del intronic D 25092500 25092509 1 42 589.796 - - 8 1 1 CLIC4|CCDS256.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLIC4|CCDS256.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 6 8 7 16 18 16 18 8 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694494139 1 35998162 A AC 2218 PASS KIAA0319L CCDS390.1 r.? - - Ins intronic I 35998162 35998163 1 396 2007.98 - - 0 1 1 KIAA0319L|CCDS390.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA0319L|CCDS390.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 17 21 22 24 39 45 39 45 22 24 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694497614 1 44273133 A AT 360 PASS ST3GAL3 CCDS493.1 r.? - - Ins intronic I 44273133 44273135 1 12 318.095 - - 1 1 1 ST3GAL3|CCDS493.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ST3GAL3|CCDS493.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 1 10 5 24 18 27 19 10 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694497946 1 45176300 AAG A 360 PASS C1orf228 ENST00000458657 r.? - - Del intronic D 45176300 45176304 2 7 315.687 - - 1 1 - C1orf228|ENST00000458657|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf228|ENST00000458657|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 4 22 4 0 0 ./. 6 0 4 0 51 18 51 18 6 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694501207 1 53386799 GCACCCTCCT G 261 PASS ECHDC2 CCDS571.1 r.? - - Del intronic D 53386799 53386812 9 28 482.561 - - 1 1 1 ECHDC2|CCDS571.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ECHDC2|CCDS571.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 3 6 4 6 29 31 29 31 4 6 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694506323 1 66225860 G GT 300 PASS - - - - - Ins - I 66225860 66225870 1 10 260.262 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 1 4 1 5 39 50 41 50 1 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694510376 1 77325823 GT G 1078 PASS - - - - - Del - D 77325823 77325825 1 90 1018.74 - - 1 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 5 14 8 14 41 50 41 50 8 14 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694511222 1 79510396 G GT 840 PASS - - - - - Ins - I 79510396 79510406 1 55 736.201 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 10 6 12 42 54 42 55 6 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694517789 1 95130122 T TTTA 658 PASS - - - - - Ins - I 95130122 95130128 3 48 621.74 - - 1 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 7 5 10 7 43 27 44 27 10 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694519085 1 98710577 CT C 1800 PASS - - - - - Del - D 98710577 98710579 1 255 1606.73 - - 1 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 14 16 20 22 40 36 40 36 20 22 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694520385 1 101884417 A AT 600 PASS - - - - - Ins - I 101884417 101884425 1 32 530.158 - - 7 1 1 - - ./. 0 0 0 0 20 16 21 16 0 0 ./. 7 3 8 5 45 23 46 23 8 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694526785 1 117837825 TAC T 360 PASS - - - - - Del - D 117837825 117837841 2 16 321.707 - - 7 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 3 3 3 36 43 36 43 3 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694527788 1 120624264 C CCT 252 PASS - - - - - Ins - I 120624264 120624277 2 18 365.09 - - 6 1 1 - - ./. 0 0 0 0 20 33 22 33 0 0 ./. 2 5 3 8 83 93 84 95 3 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694528749 1 142598728 T TA 295 PASS - - - - - Ins - I 142598728 142598736 1 16 316.289 - - 7 1 1 - - ./. 0 0 0 0 77 53 77 53 0 0 ./. 3 3 4 5 99 104 100 106 4 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694529727 1 143199389 CAA C 308 PASS - - - - - Del - D 143199389 143199394 2 17 857.886 - - 4 1 1 - - ./. 0 0 0 0 22 45 22 45 0 0 ./. 16 0 18 0 100 64 100 64 18 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694531614 1 145827832 C CA 269 PASS GPR89A CCDS41377.1 r.? - - Ins upstream I 145827832 145827837 1 6 263.273 - - 4 1 - GPR89A|CCDS41377.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 GPR89A|CCDS41377.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 12 2 12 2 0 0 ./. 5 0 8 0 33 10 33 11 8 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694534155 1 151699601 CA C 300 PASS C1orf230 ENST00000326413 r.? - - Del intronic D 151699601 151699611 1 12 268.089 - - 9 1 1 C1orf230|ENST00000326413|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf230|ENST00000326413|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 3 2 3 2 38 32 38 32 3 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694540654 1 168351744 CA C 1200 PASS - - - - - Del - D 168351744 168351746 1 121 1065.13 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 10 10 11 14 35 34 35 34 11 14 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694543883 1 176685125 TATTA T 480 PASS PAPPA2 CCDS41438.1 r.? - - Del intronic D 176685125 176685140 4 25 428.943 - - 3 1 1 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 4 4 5 6 17 19 17 19 5 6 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694545178 1 180006797 A AT 480 PASS CEP350 CCDS1336.1 r.? - - Ins intronic I 180006797 180006805 1 16 422.32 - - 7 1 1 CEP350|CCDS1336.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CEP350|CCDS1336.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 1 7 4 12 39 52 39 52 4 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694547308 1 185603198 C CT 329 PASS - - - - - Ins - I 185603198 185603207 1 15 306.656 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 18 0 0 ./. 2 4 8 7 39 43 39 44 8 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694549976 1 192441626 TTTG T 300 PASS - - - - - Del - D 192441626 192441653 3 6 260.865 - - 8 1 - - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 0 5 0 5 38 48 38 48 0 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694551430 1 196066008 A AT 300 PASS - - - - - Ins - I 196066008 196066018 1 12 265.079 - - 9 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 2 3 2 3 50 43 52 44 2 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694551837 1 197417203 G GT 300 PASS CRB1 CCDS1390.1 r.? - - Ins intronic I 197417203 197417213 1 10 265.079 - - 9 1 1 CRB1|CCDS1390.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CRB1|CCDS1390.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 1 4 3 58 46 60 47 4 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694551954 1 197712948 G GA 300 PASS DENND1B CCDS44289.1 r.? - - Ins intronic I 197712948 197712958 1 10 260.865 - - 9 1 1 DENND1B|CCDS44289.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DENND1B|CCDS44289.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 1 4 1 5 44 43 44 43 1 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694552448 1 199130164 GGAAGGAA G 267 PASS - - - - - Del - D 199130164 199130180 7 7 321.105 - - 2 1 - - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 6 0 1 0 43 26 43 26 6 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694557658 1 211692174 CT C 720 PASS - - - - - Del - D 211692174 211692176 1 45 642.812 - - 1 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 8 4 10 34 39 34 39 4 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694565728 1 231420002 CCT C 1020 PASS - - - - - Del - D 231420002 231420005 2 70 907.891 - - 1 1 1 - - ./. 0 0 0 0 14 3 14 3 0 0 ./. 13 4 17 6 27 10 27 10 17 6 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694566871 1 234356039 GGT G 269 PASS SLC35F3 CCDS1600.1 r.? - - Del intronic D 234356039 234356057 2 12 262.671 - - 8 1 1 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 2 3 2 3 40 45 40 45 2 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694567541 1 235615200 A AT 300 PASS B3GALNT2 CCDS1606.1 r.? - - Ins intronic I 235615200 235615210 1 12 260.865 - - 9 1 1 B3GALNT2|CCDS1606.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 B3GALNT2|CCDS1606.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 12 21 13 0 0 ./. 2 3 2 3 35 40 36 41 2 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694568966 1 238278931 G GT 300 PASS - - - - - Ins - I 238278931 238278941 1 6 265.079 - - 9 1 1 - - ./. 0 0 0 0 18 16 19 16 0 0 ./. 0 5 0 5 40 52 41 52 0 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694569118 1 238691383 AT A 960 PASS - - - - - Del - D 238691383 238691388 1 72 857.284 - - 4 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 11 7 15 47 59 47 59 7 15 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694573699 1 247988642 CT C 809 PASS - - - - - Del - D 247988642 247988652 1 64 746.436 - - 9 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 7 7 8 11 27 50 27 50 8 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694575514 10 3418177 CTG C 900 PASS - - - - - Del - D 3418177 3418181 2 66 806.639 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 10 5 11 8 24 25 24 25 11 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694578548 10 10730981 AG A 300 PASS - - - - - Del - D 10730981 10730983 1 10 269.281 - - 1 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 4 1 5 1 29 34 29 34 5 1 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694579145 10 12233308 G GGAGGTGGAGCTTGCA 290 PASS NUDT5 CCDS7089.1 r.? - - Ins intronic I 12233308 12233325 15 35 443.436 - - 1 1 1 NUDT5|CCDS7089.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NUDT5|CCDS7089.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 6 4 4 4 40 27 42 29 6 6 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694580788 10 15864334 TAC T 300 PASS FAM188A CCDS7110.1 r.? - - Del intronic D 15864334 15864349 2 12 269.281 - - 7 1 1 FAM188A|CCDS7110.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM188A|CCDS7110.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 2 3 2 31 35 31 35 3 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694601706 10 73624490 A AT 300 PASS - - - - - Ins - I 73624490 73624500 1 10 266.271 - - 9 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 1 4 1 4 23 35 24 35 1 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694603192 10 77725614 TC T 1140 PASS C10orf11 CCDS7351.1 r.? - - Del intronic D 77725614 77725618 1 90 1022.06 - - 3 1 1 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 14 8 15 19 29 19 29 8 15 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694604052 10 80692502 AAG A 269 PASS - - - - - Del - D 80692502 80692520 2 10 259.046 - - 8 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 1 4 1 37 17 37 17 4 1 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694610227 10 98782812 T TG 360 PASS SLIT1 CCDS7453.1 r.? - - Ins intronic I 98782812 98782813 1 16 319.525 - - 0 1 1 SLIT1|CCDS7453.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLIT1|CCDS7453.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 4 3 26 35 28 35 4 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694614543 10 111292456 T TG 293 PASS - - - - - Ins - I 111292456 111292460 1 10 263.862 - - 3 1 1 - - ./. 0 0 0 0 11 27 11 28 0 0 ./. 1 4 1 4 27 38 27 38 1 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694615061 10 112868579 CCAAAG C 747 PASS - - - - - Del - D 112868579 112868587 5 55 753.384 - - 1 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 10 4 11 10 29 24 29 24 11 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694620221 10 127117219 CTG C 300 PASS - - - - - Del - D 127117219 127117235 2 10 269.281 - - 7 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 1 4 1 36 27 36 27 4 1 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694625172 11 6302626 C CA 538 PASS - - - - - Ins - I 6302626 6302632 1 35 531.127 - - 5 1 1 - - ./. 0 0 0 0 18 14 18 15 0 0 ./. 4 6 6 6 29 24 29 24 6 6 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694625536 11 7315474 T TG 1080 PASS SYT9 CCDS7778.1 r.? - - Ins intronic I 7315474 7315482 1 100 957.955 - - 7 1 1 SYT9|CCDS7778.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SYT9|CCDS7778.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 9 9 13 13 44 39 45 39 13 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694626746 11 10175496 A AT 1080 PASS SBF2 CCDS31427.1 r.? - - Ins intronic I 10175496 10175505 1 84 960.363 - - 8 1 1 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 14 13 0 0 ./. 5 13 8 20 33 34 33 34 8 20 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694628231 11 14366952 ATAAC A 1076 PASS RRAS2 CCDS7814.1 r.? - - Del intronic D 14366952 14366960 4 121 1079.11 - - 1 1 1 RRAS2|CCDS7814.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RRAS2|CCDS7814.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 19 24 19 0 0 ./. 10 10 13 12 34 33 34 33 13 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694639525 11 46888479 G GA 269 PASS LRP4 CCDS31478.1 r.? - - Ins intronic I 46888479 46888489 1 12 256.533 - - 9 1 - LRP4|CCDS31478.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRP4|CCDS31478.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 17 14 0 0 ./. 3 2 2 2 36 32 37 32 3 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694641595 11 55558522 AATTT A 480 PASS OR5D14 CCDS31508.1 r.? - - Del upstream D 55558522 55558531 4 21 431.645 - - 2 1 1 OR5D14|CCDS31508.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 OR5D14|CCDS31508.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 2 6 7 23 29 23 29 6 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694645416 11 66418593 C CG 300 PASS RBM4 CCDS41676.1 r.? - - Ins downstream I 66418593 66418602 1 10 266.166 - - 8 1 1 RBM4|CCDS41676.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 RBM4|ENST00000396053|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 1 7 3 21 18 21 19 7 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694647652 11 73242188 GCTTCCTAGAGAGTCTCATTTCACTAC G 609 PASS FAM168A CCDS41689.1 r.? - - Del intronic D 73242188 73242215 26 132 1133.07 - - 1 1 1 FAM168A|CCDS41689.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM168A|CCDS41689.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 20 11 20 0 0 ./. 11 10 8 6 30 27 33 31 11 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694649243 11 77276154 GTC G 267 PASS RNU7-59P ENST00000459101 r.? - - Del downstream D 77276154 77276174 2 15 323.734 - - 9 1 - RNU7-59P|ENST00000459101|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 RNU7-59P|ENST00000459101|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 26 11 26 11 0 0 ./. 2 4 3 7 112 111 112 111 3 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694649518 11 77499559 AAG A 358 PASS RSF1 CCDS8253.1 r.? - - Del intronic D 77499559 77499563 2 8 365.046 - - 1 1 1 RSF1|CCDS8253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RSF1|CCDS8253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 7 0 17 0 165 100 166 100 17 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694650907 11 79741140 AAG A 420 PASS - - - - - Del - D 79741140 79741144 2 8 368.658 - - 1 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 7 0 10 0 108 71 108 71 12 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694650972 11 79842206 A AT 420 PASS - - - - - Ins - I 79842206 79842208 1 18 373.475 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 5 6 7 116 133 118 133 6 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694651033 11 79951296 G GA 929 PASS - - - - - Ins - I 79951296 79951301 1 77 849.442 - - 4 1 1 - - ./. 0 0 0 0 19 13 19 14 0 0 ./. 10 6 14 9 138 134 140 134 14 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694651574 11 80903383 TC T 780 PASS - - - - - Del - D 80903383 80903387 1 56 700.821 - - 3 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 6 7 9 8 123 96 123 96 9 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694666283 11 133121472 TG T 480 PASS ENSG00000183715 CCDS31722.1 r.? - - Del intronic D 133121472 133121482 1 24 431.645 - - 9 1 1 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 5 7 8 16 16 16 16 7 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694677963 12 29202633 AC A 300 PASS - - - - - Del - D 29202633 29202635 1 12 269.773 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 4 2 29 37 29 37 4 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694680063 12 34283930 G GA 660 PASS AC046130.1 ENST00000501954 r.? - - Ins intronic I 34283930 34283937 1 30 586.877 - - 6 1 1 AC046130.1|ENST00000501954|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC046130.1|ENST00000501954|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 6 17 6 0 0 ./. 9 2 12 2 34 14 34 14 12 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694680300 12 37909914 AAG A 300 PASS - - - - - Del - D 37909914 37909918 2 6 268.569 - - 1 1 - - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 5 0 3 0 27 24 27 24 5 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694684724 12 51177611 CTG C 480 PASS ATF1 CCDS8803.1 r.? - - Del intronic D 51177611 51177615 2 24 427.422 - - 1 1 1 ATF1|CCDS8803.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATF1|CCDS8803.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 3 12 6 28 19 28 19 12 6 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694690879 12 69259418 ACT A 300 PASS CPM CCDS8987.1 r.? - - Del intronic D 69259418 69259438 2 12 265.558 - - 9 1 - CPM|CCDS8987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPM|CCDS8987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 2 6 2 29 26 29 26 6 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694695089 12 82101224 A AGCAAT 745 PASS - - - - - Ins - I 82101224 82101234 5 110 967.941 - - 1 1 1 - - ./. 0 0 0 0 21 23 21 23 0 0 ./. 10 9 10 9 30 40 30 40 10 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694695956 12 84632909 C CG 600 PASS - - - - - Ins - I 84632909 84632910 1 35 533.525 - - 0 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 6 4 11 18 27 20 28 4 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694696298 12 85518544 GT G 1160 PASS LRRIQ1 CCDS31865.1 r.4366delU c.? p.? Del 3'UTR variant D 85518544 85518552 1 117 1077.89 - - 7 1 1 LRRIQ1|CCDS31865.1|r.4366delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 LRRIQ1|CCDS31865.1|r.4366delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 22 15 22 0 0 ./. 8 12 11 13 21 28 21 28 11 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694696390 12 86043157 GC G 840 PASS - - - - - Del - D 86043157 86043163 1 55 755.364 - - 5 1 1 - - ./. 0 0 0 0 10 30 10 30 0 0 ./. 4 10 7 15 23 32 23 32 7 15 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694698592 12 93224298 AT A 360 PASS EEA1 CCDS31874.1 r.? - - Del intronic D 93224298 93224301 1 15 320.115 - - 2 1 1 EEA1|CCDS31874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EEA1|CCDS31874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 2 4 2 37 26 37 26 4 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694698897 12 93920805 ATG A 300 PASS - - - - - Del - D 93920805 93920825 2 12 269.773 - - 9 1 - - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 3 3 5 42 30 42 30 3 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694707413 12 117876827 GC G 960 PASS - - - - - Del - D 117876827 117876830 1 77 851.834 - - 2 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 10 6 12 12 27 35 27 35 12 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694710409 12 125182915 CTTA C 720 PASS - - - - - Del - D 125182915 125182923 3 45 647.455 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 8 8 13 31 33 31 33 8 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694711506 12 128058694 ATTTC A 449 PASS - - - - - Del - D 128058694 128058704 4 24 423.208 - - 2 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 5 3 6 5 22 22 22 22 6 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694713316 12 132360019 G GT 438 PASS - - - - - Ins - I 132360019 132360026 1 25 426.82 - - 6 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 4 4 8 8 36 28 36 28 8 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694713474 12 132949451 G GAC 420 PASS ENSG00000236291 ENST00000446891 r.? - - Ins intronic I 132949451 132949453 2 18 365.039 - - 0 1 1 ENSG00000236291|ENST00000446891|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000236291|ENST00000446891|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 5 3 6 16 21 16 21 3 6 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694734412 13 84399885 AG A 1200 PASS - - - - - Del - D 84399885 84399887 1 120 1081.01 - - 1 1 1 - - ./. 0 0 0 0 14 24 14 24 0 0 ./. 11 9 11 11 32 29 32 29 11 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694734818 13 85683318 T TA 300 PASS - - - - - Ins - I 85683318 85683328 1 12 267.091 - - 9 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 3 2 3 33 35 38 35 2 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694735444 13 87475343 C CA 1080 PASS - - - - - Ins - I 87475343 87475348 1 91 961.888 - - 4 1 1 - - ./. 0 0 0 0 35 22 35 22 0 0 ./. 12 6 14 7 30 32 31 33 14 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694744342 13 112830305 GC G 300 PASS - - - - - Del - D 112830305 112830309 1 6 270.703 - - 3 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 0 1 0 18 26 23 26 6 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694746823 14 23666371 T TA 840 PASS C14orf164 ENST00000399910 r.? - - Ins intronic I 23666371 23666378 1 60 740.974 - - 6 1 1 C14orf164|ENST00000399910|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C14orf164|ENST00000399910|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 9 5 9 7 32 19 32 20 9 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694754660 14 46136218 A AT 960 PASS - - - - - Ins - I 46136218 46136228 1 80 856.461 - - 9 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 9 7 11 12 38 35 38 35 11 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694755912 14 50036444 TA T 540 PASS - - - - - Del - D 50036444 50036447 1 28 487.178 - - 2 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 6 3 7 9 22 35 22 35 7 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694757681 14 54243643 A AT 960 PASS - - - - - Ins - I 54243643 54243644 1 65 851.042 - - 0 1 1 - - ./. 0 0 0 0 17 15 17 16 0 0 ./. 12 4 18 5 40 27 40 28 18 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694762678 14 68262654 T TA 1080 PASS ZFYVE26 CCDS9788.1 r.? - - Ins intronic I 68262654 68262663 1 84 959.906 - - 8 1 1 ZFYVE26|CCDS9788.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFYVE26|CCDS9788.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 19 15 20 0 0 ./. 5 13 10 17 33 35 33 35 10 17 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694766766 14 78660812 T TAA 960 PASS - - - - - Ins - I 78660812 78660813 2 80 846.828 - - 0 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 9 7 9 13 21 37 22 37 9 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694767782 14 82057233 ACT A 300 PASS - - - - - Del - D 82057233 82057251 2 10 270.654 - - 8 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 1 4 1 26 25 26 25 4 1 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694768246 14 83644441 TA T 1260 PASS - - - - - Del - D 83644441 83644443 1 126 1134.94 - - 1 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 8 13 11 13 33 28 33 28 11 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694768291 14 83776071 A AT 840 PASS - - - - - Ins - I 83776071 83776075 1 60 749.403 - - 3 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 5 9 6 10 26 36 27 36 6 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694769026 14 85856173 T TA 660 PASS - - - - - Ins - I 85856173 85856182 1 40 588.817 - - 8 1 1 - - ./. 0 0 0 0 30 13 30 15 0 0 ./. 7 4 13 9 34 29 34 29 13 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694769951 14 88710264 TTCAGTAA T 377 PASS KCNK10 CCDS9881.1 r.? - - Del intronic D 88710264 88710272 7 50 703.701 - - 1 1 1 KCNK10|CCDS9881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNK10|CCDS9881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 9 8 11 19 34 19 34 8 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694776388 14 107002699 GA G 929 PASS - - - - - Del - D 107002699 107002701 1 81 863.686 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 8 8 14 14 31 39 31 39 14 14 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694777422 15 20857181 TTTATCCAACATTTGTA T 493 PASS - - - - - Del - D 20857181 20857198 16 90 918.444 - - 1 1 1 - - ./. 0 0 0 0 57 58 57 58 0 0 ./. 9 8 9 8 151 196 151 196 9 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694778457 15 23086364 GGCC G 387 PASS NIPA1 CCDS10011.1 r.60_62delGGC c.45_47delGGC p.A16delA Del inframe D 23086364 23086391 3 24 411.42 - - 8 1 - NIPA1|CCDS10011.1|r.60_62delGGC|c.45_47delGGC|p.A16delA|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 NIPA1|CCDS10011.1|r.60_62delGGC|c.45_47delGGC|p.A16delA|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 8 4 8 4 0 0 ./. 3 5 6 7 16 18 16 18 6 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694780562 15 28206055 A AG 480 PASS OCA2 CCDS10020.1 r.? - - Ins intronic I 28206055 28206056 1 24 419.849 - - 0 1 1 OCA2|CCDS10020.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OCA2|CCDS10020.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 14 12 0 0 ./. 5 3 6 3 54 31 55 31 6 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694784226 15 37136991 C CA 660 PASS - - - - - Ins - I 37136991 37137000 1 42 588.054 - - 8 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 5 6 7 7 46 42 46 43 7 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694784374 15 37471799 G GA 300 PASS - - - - - Ins - I 37471799 37471809 1 12 267.297 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 15 0 0 ./. 3 2 3 3 54 50 54 51 3 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694785245 15 39878796 AACTG A 329 PASS THBS1 CCDS32194.1 r.? - - Del intronic D 39878796 39878804 4 15 309.318 - - 1 1 1 THBS1|CCDS32194.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THBS1|CCDS32194.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 2 4 2 37 28 38 28 5 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694785407 15 40263936 T TA 780 PASS EIF2AK4 CCDS42016.1 r.? - - Ins intronic I 40263936 40263946 1 56 687.748 - - 9 1 1 EIF2AK4|CCDS42016.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EIF2AK4|CCDS42016.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 7 6 15 12 46 37 46 38 15 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694789190 15 48925306 G GA 840 PASS FBN1 CCDS32232.1 r.? - - Ins intronic I 48925306 48925314 1 60 747.831 - - 7 1 1 FBN1|CCDS32232.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBN1|CCDS32232.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 18 24 18 0 0 ./. 9 5 11 7 63 49 63 49 11 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694806482 15 90412817 AAG A 360 PASS AP3S2 CCDS10357.1 r.? - - Del intronic D 90412817 90412821 2 7 314.134 - - 1 1 - AP3S2|CCDS10357.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AP3S2|CCDS10357.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 6 15 6 0 0 ./. 6 0 14 0 41 19 41 19 14 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694807017 15 91315025 T TA 720 PASS BLM CCDS10363.1 r.? - - Ins intronic I 91315025 91315034 1 48 640.912 - - 8 1 1 BLM|CCDS10363.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BLM|CCDS10363.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 7 9 11 54 37 55 39 9 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694809833 15 98221043 A AT 780 PASS - - - - - Ins - I 98221043 98221050 1 56 694.973 - - 6 1 1 - - ./. 0 0 0 0 14 17 15 17 0 0 ./. 7 6 13 9 42 42 43 42 13 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694811007 15 100939311 T TG 300 PASS LASS3 CCDS10384.1 r.? - - Ins downstream I 100939311 100939312 1 6 266.093 - - 0 1 - LASS3|CCDS10384.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 LASS3|CCDS10384.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 10 13 10 13 0 0 ./. 0 5 2 5 29 42 30 42 2 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694813507 16 5264314 A AT 1080 PASS - - - - - Ins - I 5264314 5264321 1 84 960.022 - - 6 1 1 - - ./. 0 0 0 0 27 17 28 17 0 0 ./. 5 13 6 19 21 43 22 43 6 19 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694838067 16 77318509 C CT 720 PASS ADAMTS18 CCDS10926.1 r.? - - Ins intronic I 77318509 77318511 1 49 640.818 - - 1 1 1 ADAMTS18|CCDS10926.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAMTS18|CCDS10926.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 6 6 13 10 30 25 30 26 13 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694842110 16 88473584 G GCGGCTCAGAGCTCCCAAAGGGGTGAGGTTGGGCTGGGCCCCCCAGGGTGGGAGCA 261 PASS - - - - - Ins - I 88473584 88473639 55 24 188.915 - - 0 1 1 - - ./. 0 0 0 0 10 24 10 24 0 0 ./. 2 7 0 0 37 36 39 43 2 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694846066 17 7683672 T TC 960 PASS DNAH2 CCDS32551.1 r.? - - Ins intronic I 7683672 7683677 1 80 844.821 - - 4 1 1 DNAH2|CCDS32551.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAH2|CCDS32551.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 7 9 12 12 36 31 37 32 12 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694848775 17 14344943 TAC T 1018 PASS - - - - - Del - D 14344943 14344947 2 96 972.85 - - 1 1 1 - - ./. 0 0 0 0 23 18 23 18 0 0 ./. 11 7 12 13 34 31 34 31 12 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694852708 17 25640081 A AG 420 PASS WSB1 CCDS11220.1 r.2268_2269insg c.? p.? Ins 3'UTR variant I 25640081 25640082 1 14 365.319 - - 0 1 1 WSB1|CCDS11220.1|r.2268_2269insg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 WSB1|CCDS11220.1|r.2268_2269insg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 13 9 14 11 0 0 ./. 6 1 7 4 30 30 30 30 7 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694866309 17 59632856 A AT 1349 PASS - - - - - Ins - I 59632856 59632866 1 144 1228.8 - - 9 1 1 - - ./. 0 0 0 0 18 25 18 25 0 0 ./. 15 8 16 11 42 41 43 41 16 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694866803 17 60488053 AAG A 360 PASS ENSG00000172421 CCDS45751.1 r.? - - Del intronic D 60488053 60488072 2 12 324.484 - - 9 1 1 ENSG00000172421|CCDS45751.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000172421|CCDS45751.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 5 1 5 2 41 25 41 25 5 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694867138 17 61139022 G GT 300 PASS TANC2 CCDS45754.1 r.? - - Ins intronic I 61139022 61139032 1 12 267.393 - - 9 1 1 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 3 2 3 2 43 45 43 45 3 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694867675 17 62347038 TG T 660 PASS - - - - - Del - D 62347038 62347041 1 42 592.479 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 6 7 10 41 38 41 38 7 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694872371 17 72634816 TG T 300 PASS - - - - - Del - D 72634816 72634818 1 6 263.781 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 0 7 1 42 33 42 33 7 1 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694880635 18 12105819 G GA 960 PASS ANKRD62 ENST00000314074 r.? - - Ins intronic I 12105819 12105827 1 77 858.199 - - 7 1 1 ANKRD62|ENST00000314074|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKRD62|ENST00000314074|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 23 19 24 0 0 ./. 6 10 8 13 19 26 19 26 8 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694883321 18 22317558 GCT G 840 PASS - - - - - Del - D 22317558 22317565 2 64 756.945 - - 3 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 7 7 11 9 23 25 23 25 11 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694892129 18 54778104 AC A 780 PASS - - - - - Del - D 54778104 54778112 1 56 699.093 - - 7 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 7 6 12 11 20 21 20 21 12 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694893378 18 58871546 T TC 749 PASS - - - - - Ins - I 58871546 58871548 1 50 696.685 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 9 6 11 20 25 20 26 6 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694898021 18 73137335 G GA 900 PASS C18orf62 CCDS32845.1 r.? - - Ins intronic I 73137335 73137345 1 72 802.755 - - 9 1 1 C18orf62|CCDS32845.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C18orf62|CCDS32845.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 13 26 13 0 0 ./. 7 8 12 11 24 27 24 27 12 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694898291 18 74175899 CAGA C 480 PASS ZNF516 ENST00000443185 r.? - - Del upstream D 74175899 74175909 3 21 433.916 - - 3 1 1 ZNF516|ENST00000443185|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ZNF516|ENST00000217537|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 6 2 7 3 20 17 20 17 7 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694909886 19 22330947 CTTAAA C 629 PASS - - - - - Del - D 22330947 22330959 5 40 595.954 - - 2 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 7 4 8 5 19 28 19 28 8 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694910415 19 23400026 G GA 327 PASS ZNF724P ENST00000418100 r.? - - Ins downstream I 23400026 23400034 1 18 374.427 - - 7 1 1 ZNF724P|ENST00000418100|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ZNF724P|ENST00000418100|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 16 17 16 17 0 0 ./. 5 2 8 4 25 23 26 23 8 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694916499 19 41732839 C CA 900 PASS AXL CCDS12575.1 r.? - - Ins intronic I 41732839 41732849 1 70 801.828 - - 9 1 1 AXL|CCDS12575.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AXL|CCDS12575.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 9 6 14 11 42 26 42 26 14 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694920869 19 51881981 ATAT A 629 PASS LIM2 CCDS12831.1 r.? - - Del downstream D 51881981 51881989 3 36 595.352 - - 2 1 1 LIM2|CCDS12831.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LIM2|CCDS12831.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 8 5 9 17 40 17 40 5 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694921812 19 53821848 CAG C 1200 PASS - - - - - Del - D 53821848 53821852 2 112 1081.14 - - 1 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 7 13 8 13 27 28 27 28 8 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694923749 19 57922924 AGCTCCTGTCAGGGACCTGCACGTGCGAG A 464 PASS ZNF17 CCDS42636.1 r.? - - Del intronic D 57922924 57922956 28 72 866.24 - - 1 1 1 ZNF17|CCDS42636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF17|CCDS42636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 5 11 4 8 12 30 13 33 5 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694924949 2 2204435 TAG T 300 PASS MYT1L CCDS46222.1 r.? - - Del intronic D 2204435 2204452 2 12 266.697 - - 8 1 1 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 2 3 2 3 23 40 23 40 2 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694932936 2 26521781 TC T 300 PASS - - - - - Del - D 26521781 26521783 1 6 268.503 - - 1 1 1 - - ./. 0 0 0 0 16 11 18 11 0 0 ./. 0 5 5 7 25 23 26 23 5 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694937188 2 37978554 A AG 260 PASS - - - - - Ins - I 37978554 37978558 1 15 317.989 - - 3 1 1 - - ./. 0 0 0 0 31 27 32 27 0 0 ./. 4 2 6 5 60 42 61 42 6 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694950273 2 76921622 CACTT C 987 PASS - - - - - Del - D 76921622 76921631 4 100 962.396 - - 2 1 1 - - ./. 0 0 0 0 21 20 21 20 0 0 ./. 9 9 12 11 27 28 27 28 12 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694951568 2 80918377 TG T 328 PASS - - - - - Del - D 80918377 80918379 1 49 644.407 - - 1 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 6 6 9 11 27 35 28 35 10 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694951657 2 81360757 A AT 1080 PASS - - - - - Ins - I 81360757 81360767 1 91 953.967 - - 9 1 1 - - ./. 0 0 0 0 23 23 23 23 0 0 ./. 6 12 7 13 26 26 26 26 7 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694954475 2 90480394 A AT 462 PASS - - - - - Ins - I 90480394 90480403 1 28 477.285 - - 8 1 1 - - ./. 0 0 0 0 34 59 34 59 0 0 ./. 3 6 3 8 62 116 62 118 3 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694954601 2 91686760 TA T 259 PASS - - - - - Del - D 91686760 91686763 1 8 375.302 - - 2 1 1 - - ./. 0 0 0 0 12 22 12 23 0 0 ./. 7 0 14 1 47 38 47 44 14 1 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694960028 2 109379355 CTA C 664 PASS RANBP2 CCDS2079.1 r.? - - Del intronic D 109379355 109379360 2 77 859.209 - - 2 1 1 RANBP2|CCDS2079.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RANBP2|CCDS2079.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 11 26 11 0 0 ./. 6 10 8 13 36 39 36 39 8 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694962315 2 116833429 CA C 1140 PASS - - - - - Del - D 116833429 116833431 1 110 1020.31 - - 1 1 1 - - ./. 0 0 0 0 8 24 8 24 0 0 ./. 9 10 13 12 28 21 28 21 13 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694964708 2 123819660 G GA 300 PASS - - - - - Ins - I 123819660 123819668 1 12 265.493 - - 7 1 1 - - ./. 0 0 0 0 21 14 21 14 0 0 ./. 2 3 6 3 37 30 38 30 6 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694966564 2 129267097 GCA G 300 PASS - - - - - Del - D 129267097 129267115 2 10 268.503 - - 8 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 4 1 4 25 29 25 29 1 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694970852 2 140335590 C CA 960 PASS - - - - - Ins - I 140335590 140335596 1 65 848.974 - - 5 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 12 6 15 32 33 32 33 6 15 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694977074 2 158852371 G GT 300 PASS UPP2 CCDS46435.1 r.? - - Ins intronic I 158852371 158852381 1 10 252.247 - - 9 1 1 UPP2|CCDS46435.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UPP2|CCDS46435.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 25 16 25 0 0 ./. 1 4 3 5 36 38 37 39 3 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694977178 2 159213792 T TA 300 PASS CCDC148 CCDS33304.1 r.? - - Ins intronic I 159213792 159213802 1 10 264.891 - - 9 1 1 CCDC148|CCDS33304.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC148|CCDS33304.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 4 1 5 9 36 22 38 23 5 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694977395 2 159716208 T TG 569 PASS DAPL1 ENST00000343761 r.? - - Ins intronic I 159716208 159716215 1 35 528.577 - - 6 1 1 DAPL1|ENST00000343761|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DAPL1|ENST00000343761|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 6 7 7 28 29 28 29 7 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694978434 2 162291838 AT A 300 PASS - - - - - Del - D 162291838 162291848 1 10 268.503 - - 9 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 1 4 1 33 24 33 24 4 1 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694983550 2 177524989 AC A 480 PASS - - - - - Del - D 177524989 177524994 1 24 429.605 - - 4 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 3 6 3 31 26 31 26 6 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694985911 2 184650831 TC T 840 PASS - - - - - Del - D 184650831 184650833 1 55 751.808 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 10 4 14 6 33 30 33 30 14 6 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2694986462 2 186521133 AATT A 540 PASS - - - - - Del - D 186521133 186521140 3 28 483.305 - - 2 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 3 6 6 8 17 25 17 25 6 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695012062 20 14561518 CA C 720 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 14561518 14561520 1 45 650.294 - - 1 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 4 8 6 9 41 41 41 41 6 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695021507 20 36643170 C CT 300 PASS KIAA0406 CCDS13300.1 r.? - - Ins intronic I 36643170 36643180 1 6 266.741 - - 9 1 1 KIAA0406|CCDS13300.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KIAA0406|CCDS13300.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 5 0 5 0 54 39 54 39 5 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695022093 20 38379585 CA C 927 PASS - - - - - Del - D 38379585 38379589 1 88 917.035 - - 3 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 10 7 15 11 36 31 36 31 15 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695028091 20 52661761 A AC 420 PASS BCAS1 CCDS13444.1 r.? - - Ins intronic I 52661761 52661762 1 18 366.695 - - 0 1 - BCAS1|CCDS13444.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BCAS1|CCDS13444.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 8 18 8 0 0 ./. 5 2 5 4 39 42 39 43 5 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695030565 20 59544970 TG T 1020 PASS - - - - - Del - D 59544970 59544972 1 78 920.648 - - 1 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 12 5 16 8 36 37 36 37 16 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695030968 20 60777921 CG C 720 PASS GTPBP5 CCDS13492.1 r.? - - Del downstream D 60777921 60777926 1 45 648.488 - - 4 1 1 GTPBP5|CCDS13492.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 GTPBP5|CCDS13492.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 8 8 11 34 37 34 37 8 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695031738 20 62770062 TC T 300 PASS - - - - - Del - D 62770062 62770064 1 6 261.323 - - 1 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 0 12 0 25 31 25 31 12 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695036662 21 15572708 AAAG A 1138 PASS LIPI CCDS13564.1 r.? - - Del intronic D 15572708 15572717 3 112 1084.61 - - 2 1 1 LIPI|CCDS13564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIPI|CCDS13564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 13 7 13 7 34 22 34 22 13 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695048982 21 47258754 GTTATAGCTTCAACTGAAATTCCTGCATTTGATTATGTAAAATACAAACATTTACATGATTCTAAAGTCAAAATTATTGCAAGGGCTATT G 406 PASS PCBP3 CCDS42974.2 r.? - - Del intronic D 47258754 47258844 89 48 758.862 - - 1 1 1 PCBP3|CCDS42974.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCBP3|CCDS42974.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 11 0 0 22 17 25 28 3 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695058026 22 38326875 AACTT A 1105 PASS MICALL1 CCDS13961.1 r.? - - Del intronic D 38326875 38326880 4 120 1130.88 - - 1 1 1 MICALL1|CCDS13961.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MICALL1|CCDS13961.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 14 7 17 8 39 21 39 22 17 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695059564 22 42198917 C CA 420 PASS MEI1 CCDS46718.1 r.? - - Ins downstream I 42198917 42198925 1 14 376.758 - - 7 1 - MEI1|CCDS46718.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CCDC134|CCDS33654.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 1 6 2 7 5 27 5 27 2 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695070482 3 22491943 TCA T 300 PASS - - - - - Del - D 22491943 22491962 2 12 265.988 - - 9 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 2 3 3 4 24 26 24 26 3 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695077207 3 43481207 C CA 1140 PASS ANO10 CCDS2710.2 r.? - - Ins intronic I 43481207 43481216 1 98 1009.55 - - 8 1 1 ANO10|CCDS2710.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANO10|CCDS2710.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 21 11 21 0 0 ./. 6 13 8 18 32 42 32 43 8 18 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695079771 3 51037120 C CA 900 PASS DOCK3 CCDS46835.1 r.? - - Ins intronic I 51037120 51037129 1 72 794.953 - - 8 1 1 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 17 23 17 0 0 ./. 8 7 10 10 37 41 37 41 10 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695084406 3 64594499 AAC A 389 PASS ADAMTS9 CCDS2903.1 r.? - - Del intronic D 64594499 64594514 2 20 376.597 - - 7 1 1 ADAMTS9|CCDS2903.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS9|CCDS2903.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 3 4 3 32 33 32 33 4 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695094202 3 94220615 C CT 720 PASS - - - - - Ins - I 94220615 94220625 1 45 636.565 - - 9 1 1 - - ./. 0 0 0 0 21 16 21 17 0 0 ./. 8 4 11 9 35 28 35 28 11 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695094422 3 94962312 T TA 869 PASS - - - - - Ins - I 94962312 94962321 1 66 797.964 - - 8 1 1 - - ./. 0 0 0 0 24 21 25 21 0 0 ./. 10 5 12 14 28 36 29 36 12 14 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695108177 3 136282378 ACT A 300 PASS STAG1 CCDS3090.1 r.? - - Del intronic D 136282378 136282398 2 12 267.794 - - 9 1 - STAG1|CCDS3090.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STAG1|CCDS3090.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 2 3 4 4 29 36 29 36 4 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695123433 3 182211047 AG A 869 PASS - - - - - Del - D 182211047 182211050 1 66 801.576 - - 2 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 10 5 13 11 29 32 29 32 13 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695124014 3 183689099 G GA 480 PASS ABCC5 CCDS43176.1 r.? - - Ins intronic I 183689099 183689104 1 21 425.581 - - 4 1 1 ABCC5|CCDS43176.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCC5|CCDS43176.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 6 5 10 22 35 22 35 5 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695126305 3 189669241 CT C 660 PASS - - - - - Del - D 189669241 189669244 1 42 591.796 - - 2 1 1 - - ./. 0 0 0 0 23 18 23 18 0 0 ./. 6 5 10 9 25 27 25 27 10 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695129844 4 1262673 GT G 900 PASS - - - - - Del - D 1262673 1262679 1 72 794.848 - - 5 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 8 7 10 10 24 26 24 26 10 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695129897 4 1386811 AT A 1080 PASS CRIPAK CCDS3349.1 r.? - - Del upstream D 1386811 1386816 1 91 961.644 - - 4 1 1 CRIPAK|CCDS3349.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CRIPAK|CCDS3349.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 12 10 16 22 37 22 37 10 16 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695145015 4 49625745 AT A 562 PASS - - - - - Del - D 49625745 49625747 1 100 968.266 - - 1 1 1 - - ./. 0 0 0 0 18 49 18 49 0 0 ./. 9 9 12 9 33 85 33 86 12 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695145903 4 54802693 C CT 540 PASS AC110792.1 ENST00000511394 r.? - - Ins intronic I 54802693 54802703 1 28 470.286 - - 9 1 1 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 6 3 10 8 30 25 30 25 10 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695158583 4 90872904 T TA 960 PASS MMRN1 CCDS3635.1 r.3584+2_3584+3insa c.3265+2_3265+3insA p.? Ins ess splice I 90872904 90872914 1 72 846.232 - - 9 1 1 MMRN1|CCDS3635.1|r.3584+2_3584+3insa|c.3265+2_3265+3insA|p.?|protein_coding:CDS:extended_cis_splice_site:insertion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000667:SO:CGPX03:SO:0001576 MMRN1|CCDS3635.1|r.3584+2_3584+3insa|c.3265+2_3265+3insA|p.?|protein_coding:CDS:extended_cis_splice_site:insertion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000667:SO:CGPX03:SO:0001576 ./. 0 0 0 0 20 15 20 15 0 0 ./. 5 11 10 13 32 37 32 37 10 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695160728 4 97350976 GTT G 1380 PASS - - - - - Del - D 97350976 97350980 2 150 1231.81 - - 3 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 14 9 15 9 29 29 29 29 15 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695162665 4 103670261 G GA 300 PASS MANBA CCDS3658.1 r.? - - Ins intronic I 103670261 103670271 1 12 259.33 - - 9 1 1 MANBA|CCDS3658.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MANBA|CCDS3658.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 3 2 3 27 40 28 41 2 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695165907 4 113889741 G GT 300 PASS ANK2 ENST00000506722 r.? - - Ins intronic I 113889741 113889751 1 10 265.953 - - 9 1 1 ANK2|ENST00000506722|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANK2|ENST00000506722|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 24 28 25 0 0 ./. 4 1 4 2 42 39 42 39 4 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695166922 4 116883089 C CA 960 PASS - - - - - Ins - I 116883089 116883098 1 77 851.048 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 10 6 12 9 29 27 30 27 12 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695167663 4 119443829 G GT 254 PASS - - - - - Ins - I 119443829 119443839 1 12 265.953 - - 9 1 1 - - ./. 0 0 0 0 19 21 19 21 0 0 ./. 3 2 3 2 38 48 39 48 3 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695168178 4 120754375 C CA 660 PASS - - - - - Ins - I 120754375 120754384 1 40 576.667 - - 8 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 7 4 12 5 38 29 38 29 12 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695174031 4 137943830 C CCT 569 PASS - - - - - Ins - I 137943830 137943831 2 20 517.456 - - 0 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 1 9 0 2 16 26 17 27 1 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695187580 4 177377694 G GA 269 PASS - - - - - Ins - I 177377694 177377704 1 12 258.126 - - 9 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 2 3 4 2 29 34 29 34 4 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695188992 4 180942147 CCTT C 747 PASS - - - - - Del - D 180942147 180942154 3 63 753.096 - - 2 1 1 - - ./. 0 0 0 0 26 17 26 17 0 0 ./. 6 8 7 12 29 31 29 31 7 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695202863 5 23666274 A AT 1020 PASS - - - - - Ins - I 23666274 23666280 1 84 900.661 - - 5 1 1 - - ./. 0 0 0 0 19 20 19 21 0 0 ./. 6 11 10 14 31 32 31 33 10 14 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695204641 5 28394668 A AT 900 PASS - - - - - Ins - I 28394668 28394676 1 72 798.95 - - 7 1 1 - - ./. 0 0 0 0 25 24 25 24 0 0 ./. 7 8 9 13 35 40 35 42 9 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695209054 5 40124046 T TA 480 PASS - - - - - Ins - I 40124046 40124056 1 16 426.107 - - 9 1 1 - - ./. 0 0 0 0 17 3 17 3 0 0 ./. 7 1 11 1 30 7 30 7 11 1 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695224276 5 91208512 TAG T 300 PASS - - - - - Del - D 91208512 91208526 2 12 269.327 - - 6 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 3 3 33 34 33 34 3 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695232869 5 119341851 TTG T 300 PASS - - - - - Del - D 119341851 119341869 2 12 269.327 - - 8 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 2 3 2 43 39 43 39 3 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695241016 5 145502387 GAAATCTGGCATCTATCTGCCATATAAAACA G 464 PASS LARS CCDS34265.1 r.? - - Del intronic D 145502387 145502422 30 77 861.847 - - 1 1 1 LARS|CCDS34265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LARS|CCDS34265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 6 10 4 4 22 29 24 34 6 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695241325 5 146252768 TAGTA T 389 PASS PPP2R2B CCDS4284.1 r.? - - Del intronic D 146252768 146252780 4 20 377.058 - - 2 1 1 PPP2R2B|CCDS4284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP2R2B|CCDS4284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 20 21 20 0 0 ./. 3 4 3 4 30 20 30 20 3 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695247607 5 165162324 TTG T 269 PASS - - - - - Del - D 165162324 165162343 2 12 269.327 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 3 2 45 38 45 38 4 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695248340 5 167389164 CCTT C 838 PASS ODZ2 ENST00000403607 r.? - - Del intronic D 167389164 167389172 3 72 807.981 - - 2 1 1 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 8 7 11 8 28 26 28 26 11 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695251718 5 176700729 C CAGCT 507 PASS NSD1 CCDS4412.1 r.5611_5612insagcu c.5566_5567insAGCT p.Q1858fs*8 Ins frameshift I 176700729 176700734 4 36 510.959 - - 1 1 1 NSD1|CCDS4412.1|r.5611_5612insagcu|c.5566_5567insAGCT|p.Q1858fs*8|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 NSD1|CCDS4412.1|r.5611_5612insagcu|c.5566_5567insAGCT|p.Q1858fs*8|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 11 23 11 23 0 0 ./. 5 5 7 9 31 40 31 41 7 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695258550 6 13724069 GCT G 300 PASS - - - - - Del - D 13724069 13724087 2 10 269.537 - - 8 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 1 4 1 5 27 42 27 42 1 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695263645 6 26225485 GGCGTGAAGAAGCCC G 493 PASS HIST1H3E CCDS4596.1 r.104_117delGCGUGAAGAAGCCC c.104_117delGCGTGAAGAAGCCC p.G35fs*84 Del frameshift D 26225485 26225500 14 70 914.62 - - 1 1 1 HIST1H3E|CCDS4596.1|r.104_117delGCGUGAAGAAGCCC|c.104_117delGCGTGAAGAAGCCC|p.G35fs*84|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 HIST1H3E|CCDS4596.1|r.104_117delGCGUGAAGAAGCCC|c.104_117delGCGTGAAGAAGCCC|p.G35fs*84|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 13 6 13 28 26 28 26 6 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695268615 6 37041376 G GT 600 PASS - - - - - Ins - I 37041376 37041386 1 36 533.054 - - 9 1 1 - - ./. 0 0 0 0 24 11 26 11 0 0 ./. 5 5 9 12 31 42 31 42 9 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695269277 6 38765115 G GA 960 PASS DNAH8 CCDS4838.1 r.? - - Ins intronic I 38765115 38765119 1 80 852.284 - - 3 1 1 DNAH8|CCDS4838.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAH8|CCDS4838.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 16 26 16 0 0 ./. 7 9 12 10 34 32 34 32 12 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695271423 6 45157596 AC A 1140 PASS SUPT3H CCDS34466.1 r.? - - Del intronic D 45157596 45157598 1 80 1023.64 - - 1 1 1 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 4 15 7 19 26 39 26 39 7 19 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695274176 6 53849707 AT A 269 PASS C6orf142 ENST00000505762 r.? - - Del intronic D 53849707 53849717 1 10 268.333 - - 9 1 1 C6orf142|ENST00000505762|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf142|ENST00000505762|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 1 4 1 4 42 36 42 36 1 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695276842 6 62064563 ATTAT A 431 PASS - - - - - Del - D 62064563 62064574 4 35 539.075 - - 2 1 1 - - ./. 0 0 0 0 20 27 20 27 0 0 ./. 4 6 6 10 28 27 28 27 6 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695280277 6 71774963 A AT 300 PASS - - - - - Ins - I 71774963 71774973 1 12 264.119 - - 9 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 2 3 2 4 31 23 31 24 2 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695280533 6 72696747 CAGA C 687 PASS RIMS1 CCDS47449.1 r.? - - Del intronic D 72696747 72696756 3 54 700.797 - - 2 1 1 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 8 5 9 7 29 27 29 27 9 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695287745 6 97970917 CGT C 300 PASS - - - - - Del - D 97970917 97970934 2 10 269.537 - - 8 1 - - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 1 4 2 30 36 30 36 4 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695305436 6 167720944 C CAGTTCCAGAGGATGGTTGAGAT 261 PASS UNC93A CCDS5300.1 r.? - - Ins intronic I 167720944 167720945 22 28 362.347 - - 0 1 1 UNC93A|CCDS5300.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UNC93A|CCDS5300.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 6 3 0 0 14 6 20 8 6 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695312992 7 17585918 G GA 1140 PASS - - - - - Ins - I 17585918 17585920 1 110 1012.11 - - 1 1 1 - - ./. 0 0 0 0 17 13 18 13 0 0 ./. 9 10 12 14 29 37 29 37 12 14 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695315755 7 25388635 C CA 685 PASS - - - - - Ins - I 25388635 25388645 1 64 744.56 - - 9 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 7 7 9 9 24 30 25 30 9 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695317181 7 29599320 TTG T 300 PASS PRR15 CCDS5421.1 r.? - - Del upstream D 29599320 29599338 2 12 263.334 - - 8 1 1 PRR15|CCDS5421.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PRR15|CCDS5421.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 22 20 22 20 0 0 ./. 2 3 2 3 33 35 33 35 2 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695331433 7 68986805 CT C 300 PASS - - - - - Del - D 68986805 68986815 1 12 269.355 - - 9 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 2 3 2 3 32 42 32 42 2 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695336166 7 81735285 A AT 660 PASS CACNA2D1 CCDS5598.1 r.? - - Ins intronic I 81735285 81735293 1 40 583.549 - - 7 1 1 CACNA2D1|CCDS5598.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACNA2D1|CCDS5598.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 7 6 10 26 32 26 34 6 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695340589 7 95302028 GTAAAAA G 406 PASS - - - - - Del - D 95302028 95302035 6 64 752.989 - - 1 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 7 7 8 9 34 30 34 30 8 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695342862 7 101273435 AAG A 329 PASS MYL10 CCDS34713.1 r.? - - Del upstream D 101273435 101273450 2 7 322.623 - - 7 1 - MYL10|CCDS34713.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 MYL10|CCDS34713.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 11 14 11 0 0 ./. 6 0 1 0 29 17 29 17 6 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695346223 7 110965713 C CA 960 PASS IMMP2L CCDS5753.1 r.? - - Ins intronic I 110965713 110965721 1 72 848.689 - - 7 1 1 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 10 0 0 ./. 5 11 9 12 24 30 25 30 9 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695347935 7 116580037 AAG A 300 PASS - - - - - Del - D 116580037 116580043 2 6 269.355 - - 2 1 - - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 5 0 14 3 38 25 38 25 14 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695347936 7 116580039 GAGAAAA G 351 PASS - - - - - Del - D 116580039 116580051 6 20 377.096 - - 1 1 - - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 3 0 0 39 25 39 25 4 3 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695350858 7 126177852 AC A 480 PASS GRM8 CCDS5794.1 r.? - - Del intronic D 126177852 126177854 1 24 419.528 - - 1 1 - GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 14 25 14 0 0 ./. 3 5 4 8 37 27 37 27 4 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695351774 7 128877409 TG T 360 PASS AHCYL2 CCDS5812.1 r.? - - Del intronic D 128877409 128877411 1 7 320.817 - - 1 1 1 AHCYL2|CCDS5812.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AHCYL2|CCDS5812.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 6 0 12 0 36 27 36 27 12 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695353050 7 131713115 G GT 1229 PASS - - - - - Ins - I 131713115 131713121 1 126 1117.44 - - 5 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 8 13 11 15 41 40 41 40 11 15 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695356602 7 141891402 CTA C 300 PASS ENSG00000204987 ENST00000477922 r.? - - Del intronic D 141891402 141891418 2 10 269.355 - - 7 1 1 ENSG00000204987|ENST00000477922|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000204987|ENST00000477922|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 1 5 1 32 22 32 22 5 1 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695357079 7 143583396 TG T 629 PASS FAM115A CCDS5886.1 r.? - - Del intronic D 143583396 143583399 1 30 591.978 - - 2 1 1 FAM115A|CCDS5886.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM115A|CCDS5886.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 9 5 11 22 29 22 29 5 11 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695364111 8 3734303 TA T 600 PASS - - - - - Del - D 3734303 3734309 1 32 539.745 - - 5 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 7 3 10 5 34 28 34 28 10 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695376303 8 47784960 AAC A 900 PASS - - - - - Del - D 47784960 47784964 2 72 808.413 - - 1 1 1 - - ./. 0 0 0 0 16 23 16 23 0 0 ./. 8 7 11 10 35 31 35 31 11 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695378522 8 55030110 A AT 1020 PASS - - - - - Ins - I 55030110 55030117 1 78 905.525 - - 6 1 1 - - ./. 0 0 0 0 16 19 16 20 0 0 ./. 5 12 10 15 26 38 26 38 10 15 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695382173 8 68056001 TTGTCTGTAGTCTGTGTGCTTGCTAC T 377 PASS CSPP1 CCDS47870.1 r.? - - Del intronic D 68056001 68056044 25 50 699.862 - - 1 1 1 CSPP1|CCDS47870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSPP1|CCDS47870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 3 19 3 0 0 ./. 4 9 3 8 43 38 44 39 4 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695383710 8 73024127 GT G 1080 PASS - - - - - Del - D 73024127 73024135 1 96 971.541 - - 7 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 11 7 17 8 32 22 32 22 17 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695384655 8 75942326 TTAAAA T 896 PASS CRISPLD1 CCDS6219.1 r.? - - Del intronic D 75942326 75942336 5 90 917.566 - - 1 1 1 CRISPLD1|CCDS6219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRISPLD1|CCDS6219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 8 9 9 9 29 28 29 28 9 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695385293 8 77961682 C CT 300 PASS - - - - - Ins - I 77961682 77961685 1 12 264.454 - - 2 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 3 2 40 37 40 37 3 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695388179 8 87220912 ACT A 1440 PASS - - - - - Del - D 87220912 87220915 2 168 1294.79 - - 1 1 1 - - ./. 0 0 0 0 17 23 17 23 0 0 ./. 11 13 14 13 30 30 30 30 14 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695388613 8 88440974 CATAAGACATTTGTAAATGTTTATGTAA C 290 PASS - - - - - Del - D 88440974 88441020 27 27 539.745 - - 1 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 8 2 6 2 30 24 32 24 8 2 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695396008 8 111934460 AT A 600 PASS - - - - - Del - D 111934460 111934462 1 32 538.541 - - 1 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 7 13 8 33 23 33 23 13 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695401645 8 129809361 CTA C 300 PASS - - - - - Del - D 129809361 129809377 2 6 269.872 - - 7 1 - - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 0 5 0 32 27 32 27 5 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695405689 8 143017027 ACT A 720 PASS - - - - - Del - D 143017027 143017034 2 40 647.092 - - 3 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 9 5 10 21 32 21 32 5 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695414053 9 21277001 ATTC A 418 PASS - - - - - Del - D 21277001 21277012 3 25 432.084 - - 3 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 4 8 5 30 29 30 29 8 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695418385 9 34387069 AC A 567 PASS C9orf24 CCDS6555.1 r.? - - Del intronic D 34387069 34387073 1 22 574.247 - - 3 1 1 C9orf24|CCDS6555.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C9orf24|CCDS6555.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 1 10 6 12 27 22 27 22 6 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695428911 9 84477868 CT C 716 PASS - - - - - Del - D 84477868 84477872 1 60 730.86 - - 3 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 5 9 7 10 21 37 21 37 7 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695430288 9 89007673 AC A 994 PASS - - - - - Del - D 89007673 89007675 1 99 972.188 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 8 10 10 13 32 30 32 30 10 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695432667 9 96901505 CCAT C 476 PASS - - - - - Del - D 96901505 96901511 3 35 540.105 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 6 6 7 17 28 17 28 6 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695434527 9 102399733 TA T 720 PASS - - - - - Del - D 102399733 102399735 1 48 648.126 - - 1 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 5 7 10 10 27 39 27 39 10 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695436497 9 108371433 CA C 960 PASS FKTN CCDS6766.1 r.? - - Del intronic D 108371433 108371435 1 72 862.963 - - 1 1 1 FKTN|CCDS6766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FKTN|CCDS6766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 5 11 12 15 31 34 31 34 12 15 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695447973 9 141071520 GTGTCTCAGAGCAGTTTACAGCAA G 291 PASS - - - - - Del - D 141071520 141071547 23 12 593.513 - - 1 1 1 - - ./. 0 0 0 0 25 17 25 17 0 0 ./. 11 0 8 0 31 22 33 22 11 0 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695451418 X 13835420 ATC A 360 PASS GPM6B CCDS35206.1 r.40_41delGA c.? p.? Del 5'UTR variant D 13835420 13835440 2 12 324.212 - - 9 1 - GPM6B|CCDS35206.1|r.40_41delGA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 GPM6B|CCDS35206.1|r.40_41delGA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 11 17 11 17 0 0 ./. 1 5 1 5 29 25 29 25 1 5 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695456109 X 31085295 CATATGTGGATATACACACATATACACACAT C 329 PASS FTHL17 CCDS14227.1 r.? - - Del downstream D 31085295 31085328 30 12 324.212 - - 1 1 - FTHL17|CCDS14227.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FTHL17|CCDS14227.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 29 18 29 18 0 0 ./. 5 1 0 0 54 53 54 53 5 1 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695460785 X 48738157 C CA 780 PASS - - - - - Ins - I 48738157 48738166 1 50 694.632 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 9 8 13 27 38 27 38 8 13 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695460961 X 49604638 GAAT G 629 PASS PAGE4 CCDS35274.1 r.? - - Del downstream D 49604638 49604644 3 42 592.582 - - 1 1 1 PAGE4|CCDS35274.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PAGE4|CCDS35274.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 23 15 23 15 0 0 ./. 6 5 10 8 31 19 31 19 10 8 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695466736 X 78713581 CT C 360 PASS - - - - - Del - D 78713581 78713591 1 12 322.406 - - 9 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 1 5 2 9 31 35 31 35 2 9 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695468480 X 85464967 G GA 840 PASS DACH2 CCDS48140.1 r.? - - Ins intronic I 85464967 85464976 1 55 748.065 - - 8 1 1 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 15 15 0 0 ./. 10 4 10 10 27 37 29 37 10 10 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695473572 X 103836806 A AT 478 PASS IL1RAPL2 CCDS14517.1 r.? - - Ins intronic I 103836806 103836815 1 30 473.674 - - 8 1 1 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 4 8 4 25 25 25 25 8 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695475232 X 112185403 TTA T 778 PASS - - - - - Del - D 112185403 112185407 2 55 756.494 - - 1 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 10 4 14 7 28 34 28 34 14 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695478660 X 123335503 G GA 809 PASS - - - - - Ins - I 123335503 123335513 1 63 731.809 - - 9 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 6 8 10 12 24 41 25 42 10 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695478869 X 124274189 AG A 958 PASS - - - - - Del - D 124274189 124274191 1 84 915.589 - - 1 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 6 11 9 12 28 30 28 30 9 12 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695479907 X 128107972 C CT 540 PASS - - - - - Ins - I 128107972 128107978 1 28 479.695 - - 5 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 3 6 7 7 26 25 28 25 7 7 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695480019 X 128636826 AAT A 809 PASS SMARCA1 CCDS14612.1 r.? - - Del intronic D 128636826 128636832 2 48 754.688 - - 2 1 1 SMARCA1|CCDS14612.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMARCA1|CCDS14612.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 11 5 17 27 37 27 37 5 17 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695480260 X 129637287 TC T 257 PASS - - - - - Del - D 129637287 129637290 1 12 270.176 - - 2 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 3 2 4 4 25 22 25 22 4 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695480763 X 132305166 CTG C 300 PASS - - - - - Del - D 132305166 132305186 2 10 268.37 - - 9 1 - - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 1 4 1 4 27 23 27 23 1 4 1 1 1 1 1 1 1 1 2628846 PD13357a PD13357b 2695484875 X 147537467 TA T 300 PASS - - - - - Del - D 147537467 147537477 1 10 270.176 - - 9 1 1 - - ./. 0 0 0 0 10 22 10 22 0 0 ./. 4 1 4 1 24 28 24 28 4 1 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695755194 1 27887474 CCT C 298 PASS AHDC1 CCDS30652.1 r.? - - Del intronic D 27887474 27887491 2 15 318.147 - - 8 1 1 AHDC1|CCDS30652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 AHDC1|CCDS30652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 2 4 3 4 32 34 32 34 3 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695766024 1 60267262 CT C 300 PASS - - - - - Del - D 60267262 60267272 1 6 267.531 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 0 5 0 5 31 40 31 40 0 5 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695767280 1 63587359 G GA 360 PASS - - - - - Ins - I 63587359 63587369 1 15 318.147 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 2 4 2 37 37 38 37 4 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695773784 1 83080904 AAGTTT A 687 PASS - - - - - Del - D 83080904 83080911 5 54 697.146 - - 1 1 1 - - ./. 0 0 0 0 27 17 27 17 0 0 ./. 8 5 10 9 41 28 41 28 10 9 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695775331 1 87496219 ACG A 300 PASS HS2ST1 CCDS711.1 r.? - - Del intronic D 87496219 87496223 2 12 268.133 - - 1 1 - HS2ST1|CCDS711.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS2ST1|CCDS711.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 2 3 25 32 25 32 2 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695782420 1 108428281 AGTACTTACCTGATACAG A 348 PASS VAV3 CCDS785.1 r.? - - Del intronic D 108428281 108428302 17 40 641.713 - - 1 1 1 VAV3|CCDS785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VAV3|CCDS785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 9 5 10 39 39 39 39 5 10 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695790654 1 147725746 CAG C 420 PASS - - - - - Del - D 147725746 147725765 2 20 375.386 - - 9 1 1 - - ./. 0 0 0 0 27 27 27 27 0 0 ./. 4 3 6 3 94 72 94 72 6 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695793088 1 152927270 GGT G 300 PASS - - - - - Del - D 152927270 152927289 2 12 265.123 - - 9 1 - - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 2 3 2 3 42 39 42 39 2 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695793184 1 153294089 C CA 360 PASS - - - - - Ins - I 153294089 153294099 1 12 318.147 - - 9 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 5 1 6 1 41 49 43 49 6 1 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695803543 1 179259093 C CT 569 PASS SOAT1 CCDS1330.1 r.? - - Ins upstream I 179259093 179259101 1 27 523.021 - - 7 1 1 SOAT1|CCDS1330.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SOAT1|CCDS1330.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 6 15 6 16 0 0 ./. 2 8 5 10 30 75 31 75 5 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695805072 1 182948890 C CA 780 PASS - - - - - Ins - I 182948890 182948900 1 50 689.319 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 9 4 9 6 47 39 47 40 9 6 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695807536 1 189412361 AAAGTT A 658 PASS - - - - - Del - D 189412361 189412371 5 49 643.52 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 6 8 9 44 35 44 35 8 9 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695807813 1 190008099 G GA 840 PASS - - - - - Ins - I 190008099 190008105 1 48 742.344 - - 5 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 11 4 13 43 49 44 49 4 13 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695807976 1 190507401 G GA 600 PASS - - - - - Ins - I 190507401 190507410 1 32 530.246 - - 8 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 7 3 8 4 49 24 49 24 8 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695810343 1 196745157 TTTCACC TTCTCC 365 PASS CFHR3 CCDS30958.1 r.? - - Complex intronic DI 196745158 196745163 6 40 0 - - 0 1 1 CFHR3|CCDS30958.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 CFHR3|CCDS30958.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 1 10 2 12 0 0 ./. 7 4 0 0 17 15 28 19 7 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695812902 1 202457852 AAC A 300 PASS PPP1R12B CCDS30973.1 r.? - - Del intronic D 202457852 202457871 2 10 264.521 - - 9 1 1 PPP1R12B|CCDS30973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R12B|CCDS30973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 1 4 1 53 32 53 32 4 1 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695817524 1 213501949 C CCACTG 387 PASS - - - - - Ins - I 213501949 213501955 5 9 403.124 - - 1 1 1 - - ./. 0 0 0 0 17 0 18 0 0 0 ./. 8 0 9 0 40 1 41 1 10 0 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695821379 1 222894366 CTATGACTACTACTTT C 438 PASS C1orf58 CCDS1534.1 r.? - - Del intronic D 222894366 222894386 15 77 855.618 - - 1 1 1 C1orf58|CCDS1534.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf58|CCDS1534.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 10 6 10 6 41 30 41 30 10 6 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695822803 1 226091297 G GA 300 PASS PYCR2 ENST00000419724 r.? - - Ins intronic I 226091297 226091306 1 12 265.123 - - 8 1 1 PYCR2|ENST00000419724|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PYCR2|ENST00000419724|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 15 24 15 0 0 ./. 2 3 0 1 45 48 45 49 2 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695824111 1 229089226 G GA 540 PASS - - - - - Ins - I 229089226 229089233 1 30 477.221 - - 6 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 4 5 4 8 29 36 29 36 4 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695828864 1 239856659 ATC A 420 PASS CHRM3 CCDS1616.1 r.? - - Del intronic D 239856659 239856677 2 20 373.58 - - 8 1 1 CHRM3|CCDS1616.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHRM3|CCDS1616.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 3 4 3 43 39 43 39 4 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695829822 1 241733599 G GT 1020 PASS KMO CCDS1618.1 r.? - - Ins intronic I 241733599 241733606 1 70 900.816 - - 6 1 1 KMO|CCDS1618.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KMO|CCDS1618.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 8 23 8 0 0 ./. 13 4 15 7 65 35 66 36 15 7 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695834958 10 3706533 AAAG A 269 PASS - - - - - Del - D 3706533 3706539 3 6 251.014 - - 1 1 - - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 5 0 7 0 29 27 29 27 7 0 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695843425 10 24925190 A AT 929 PASS ARHGAP21 CCDS7144.2 r.? - - Ins intronic I 24925190 24925192 1 77 842.98 - - 1 1 1 ARHGAP21|CCDS7144.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP21|CCDS7144.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 19 16 0 0 ./. 10 6 12 9 48 48 48 48 12 9 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695852384 10 45954424 CA C 869 PASS MARCH8 CCDS7213.1 r.? - - Del intronic D 45954424 45954430 1 70 804.819 - - 5 1 1 MARCH8|CCDS7213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MARCH8|CCDS7213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 13 25 13 0 0 ./. 6 9 8 11 29 33 29 33 8 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695853122 10 50017687 AC A 840 PASS WDFY4 CCDS44385.1 r.? - - Del intronic D 50017687 50017690 1 64 751.004 - - 2 1 - WDFY4|CCDS44385.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDFY4|CCDS44385.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 23 9 23 0 0 ./. 7 7 11 11 38 29 38 29 11 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695861327 10 72006773 TTTATAAATGTGGAG T 377 PASS - - - - - Del - D 72006773 72006791 14 50 699.597 - - 1 1 1 - - ./. 0 0 0 0 30 15 30 15 0 0 ./. 9 4 9 5 35 33 35 33 9 5 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695878163 10 119792587 G GA 300 PASS RAB11FIP2 CCDS7602.1 r.? - - Ins intronic I 119792587 119792597 1 12 266.065 - - 9 1 1 RAB11FIP2|CCDS7602.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAB11FIP2|CCDS7602.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 18 23 18 0 0 ./. 3 2 4 3 49 26 49 26 4 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695889237 11 13925955 T TC 540 PASS - - - - - Ins - I 13925955 13925963 1 28 480.033 - - 7 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 6 3 9 5 25 29 25 29 9 5 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695892885 11 24159326 T TA 600 PASS ENSG00000228428 ENST00000431349 r.? - - Ins intronic I 24159326 24159335 1 32 530.962 - - 8 1 1 ENSG00000228428|ENST00000431349|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000228428|ENST00000431349|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 7 8 8 0 0 ./. 3 7 4 7 14 49 14 50 4 7 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695895577 11 30881108 T TG 360 PASS DCDC5 ENST00000429306 r.? - - Ins downstream I 30881108 30881109 1 15 316.41 - - 0 1 1 DCDC5|ENST00000429306|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 DCDC5|ENST00000429306|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 29 7 29 7 0 0 ./. 4 2 4 2 41 29 42 29 4 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695906432 11 64310087 A AC 300 PASS - - - - - Ins - I 64310087 64310094 1 6 266.685 - - 6 1 1 - - ./. 0 0 0 0 12 12 14 12 0 0 ./. 0 5 5 6 29 29 29 29 5 6 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695908568 11 69580273 TC T 300 PASS - - - - - Del - D 69580273 69580275 1 6 253.44 - - 1 1 - - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 0 5 0 9 192 213 192 213 0 9 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695909804 11 72827587 G GT 360 PASS FCHSD2 CCDS8218.2 r.? - - Ins intronic I 72827587 72827597 1 16 320.022 - - 9 1 1 FCHSD2|CCDS8218.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FCHSD2|CCDS8218.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 3 3 3 38 28 39 28 3 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695911438 11 77009143 GT G 300 PASS - - - - - Del - D 77009143 77009151 1 12 265.481 - - 7 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 3 9 4 126 108 126 108 9 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695939000 12 25715193 TG T 576 PASS IFLTD1 CCDS44847.1 r.? - - Del intronic D 25715193 25715195 1 27 532.14 - - 1 1 1 IFLTD1|CCDS44847.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IFLTD1|CCDS44847.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 8 4 11 22 29 22 29 4 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695945762 12 46770978 C CT 300 PASS SLC38A2 CCDS8749.1 r.? - - Ins upstream I 46770978 46770988 1 12 266.672 - - 9 1 1 SLC38A2|CCDS8749.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SLC38A2|CCDS8749.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 3 2 34 43 34 44 3 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695946084 12 47755956 TTC T 300 PASS - - - - - Del - D 47755956 47755974 2 12 269.682 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 4 2 40 22 40 22 4 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695948842 12 54278349 T TACC 360 PASS - - - - - Ins - I 54278349 54278360 3 15 312.782 - - 3 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 2 4 0 1 35 40 36 40 2 5 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695962547 12 95538516 T TGCAGTGGTGCAATCTCA 319 PASS FGD6 CCDS31878.1 r.? - - Ins intronic I 95538516 95538536 17 42 478.91 - - 1 1 1 FGD6|CCDS31878.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FGD6|CCDS31878.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 5 6 2 6 32 52 35 52 5 6 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695966455 12 106420385 GGA G 300 PASS - - - - - Del - D 106420385 106420403 2 12 269.682 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 3 3 23 29 23 29 3 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695968333 12 112016704 G GGT 540 PASS ATXN2 CCDS31902.1 r.? - - Ins intronic I 112016704 112016710 2 24 474.591 - - 2 1 1 ATXN2|CCDS31902.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATXN2|CCDS31902.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 7 4 9 34 32 34 33 4 9 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695975339 12 129270398 T TGG 329 PASS - - - - - Ins - I 129270398 129270404 2 7 315.19 - - 5 1 1 - - ./. 0 0 0 0 11 20 11 21 0 0 ./. 6 0 5 0 33 29 33 31 6 0 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695980939 13 27686525 AT A 660 PASS USP12 CCDS31952.1 r.? - - Del intronic D 27686525 27686527 1 40 595.037 - - 1 1 1 USP12|CCDS31952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP12|CCDS31952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 22 18 22 0 0 ./. 4 7 7 8 21 22 21 22 7 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2695995006 13 70646817 G GA 269 PASS KLHL1 CCDS9445.1 r.? - - Ins intronic I 70646817 70646827 1 10 267.461 - - 9 1 1 KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 19 17 20 0 0 ./. 4 1 4 1 39 40 39 41 4 1 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696016226 14 33165374 GTC G 300 PASS AKAP6 CCDS9644.1 r.? - - Del intronic D 33165374 33165391 2 12 270.54 - - 8 1 1 AKAP6|CCDS9644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AKAP6|CCDS9644.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 3 2 26 33 26 33 3 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696023270 14 51797066 GT G 1020 PASS - - - - - Del - D 51797066 51797068 1 88 916.826 - - 1 1 1 - - ./. 0 0 0 0 13 36 13 36 0 0 ./. 7 10 8 12 28 41 28 41 8 12 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696023699 14 52843421 G GT 300 PASS - - - - - Ins - I 52843421 52843431 1 12 267.53 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 3 2 3 49 41 49 41 2 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696026182 14 59559129 T TAA 540 PASS - - - - - Ins - I 59559129 59559132 2 30 476.135 - - 2 1 1 - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 4 5 10 12 48 32 48 32 10 12 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696035747 14 85864121 C CA 689 PASS - - - - - Ins - I 85864121 85864128 1 48 642.072 - - 6 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 5 9 7 23 21 23 21 9 7 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696036497 14 87628834 C CA 360 PASS - - - - - Ins - I 87628834 87628843 1 15 319.832 - - 8 1 1 - - ./. 0 0 0 0 9 21 9 21 0 0 ./. 4 2 6 4 31 33 31 33 6 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696044653 15 20612071 T TA 543 PASS - - - - - Ins - I 20612071 20612079 1 40 588.801 - - 7 1 1 - - ./. 0 0 0 0 63 51 63 65 0 0 ./. 7 4 12 8 112 81 114 93 12 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696050905 15 37437782 T TA 540 PASS - - - - - Ins - I 37437782 37437791 1 28 479.94 - - 8 1 1 - - ./. 0 0 0 0 16 24 16 25 0 0 ./. 3 6 3 14 42 38 43 38 3 14 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696057776 15 55949992 CTTTA C 480 PASS PRTG CCDS42040.1 r.? - - Del intronic D 55949992 55950002 4 21 433.035 - - 2 1 1 PRTG|CCDS42040.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRTG|CCDS42040.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 6 3 7 25 34 25 34 3 7 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696059817 15 61022099 G GT 720 PASS RORA CCDS10177.1 r.? - - Ins intronic I 61022099 61022107 1 49 641.726 - - 7 1 1 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 14 0 0 ./. 6 6 10 10 38 36 38 36 10 10 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696059869 15 61161250 A AC 600 PASS RORA CCDS10177.1 r.? - - Ins intronic I 61161250 61161258 1 35 535.273 - - 7 1 1 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 18 27 18 0 0 ./. 4 6 5 8 34 41 35 41 5 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696075084 16 1050842 GT G 300 PASS - - - - - Del - D 1050842 1050844 1 10 266.462 - - 1 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 1 5 1 33 23 33 23 5 1 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696076720 16 5520845 GATT G 300 PASS - - - - - Del - D 5520845 5520867 3 12 270.677 - - 7 1 - - - ./. 0 0 0 0 7 22 7 22 0 0 ./. 3 2 3 3 33 51 33 51 3 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696083975 16 23182321 A AAT 300 PASS - - - - - Ins - I 23182321 23182335 2 12 264.656 - - 6 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 3 4 8 22 22 22 22 4 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696084234 16 23725080 C CA 269 PASS ERN2 CCDS32407.1 r.? - - Ins upstream I 23725080 23725090 1 12 259.84 - - 9 1 1 ERN2|CCDS32407.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ERN2|CCDS32407.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 8 15 8 16 0 0 ./. 3 2 3 2 29 30 29 30 3 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696102648 16 87807318 AT A 480 PASS - - - - - Del - D 87807318 87807328 1 25 426.46 - - 9 1 - - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 4 8 14 20 27 20 27 8 14 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696130824 17 69341829 AAG A 300 PASS - - - - - Del - D 69341829 69341849 2 12 270.474 - - 9 1 1 - - ./. 0 0 0 0 21 8 21 8 0 0 ./. 2 3 4 4 35 32 35 32 4 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696138323 18 6023262 TA T 720 PASS L3MBTL4 CCDS11839.2 r.? - - Del intronic D 6023262 6023267 1 40 643.032 - - 4 1 1 L3MBTL4|CCDS11839.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 L3MBTL4|CCDS11839.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 9 4 11 30 32 30 32 4 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696146350 18 30265978 T TC 300 PASS KLHL14 CCDS32813.1 r.? - - Ins intronic I 30265978 30265979 1 12 267.077 - - 0 1 - KLHL14|CCDS32813.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KLHL14|CCDS32813.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 2 3 4 3 33 32 33 33 4 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696160400 18 71217195 TAC T 300 PASS - - - - - Del - D 71217195 71217211 2 12 270.689 - - 7 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 3 2 4 3 40 40 40 40 4 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696172533 19 20741312 G GT 300 PASS ZNF737 ENST00000344519 r.? - - Ins upstream I 20741312 20741322 1 10 262.316 - - 9 1 1 ZNF737|ENST00000344519|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ZNF737|ENST00000344519|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 15 15 15 15 0 0 ./. 1 4 1 4 42 37 42 38 1 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696176501 19 32356975 C CA 720 PASS - - - - - Ins - I 32356975 32356982 1 45 642.562 - - 6 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 4 8 7 9 35 40 35 41 7 9 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696192689 2 11437676 G GT 300 PASS ROCK2 CCDS42654.1 r.? - - Ins intronic I 11437676 11437686 1 12 265.41 - - 9 1 1 ROCK2|CCDS42654.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROCK2|CCDS42654.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 2 5 2 40 45 41 45 5 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696198848 2 29224736 TA T 300 PASS FAM179A CCDS1769.2 r.? - - Del intronic D 29224736 29224738 1 6 257.583 - - 1 1 1 FAM179A|CCDS1769.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM179A|CCDS1769.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 5 0 9 0 35 27 35 27 9 0 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696202857 2 40058775 A AT 300 PASS - - - - - Ins - I 40058775 40058785 1 12 263.603 - - 9 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 2 3 2 44 24 44 25 3 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696204844 2 45371537 TGG T 269 PASS - - - - - Del - D 45371537 45371541 2 12 266.012 - - 3 1 - - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 2 3 3 6 20 29 20 29 3 6 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696212858 2 68950996 ATC A 300 PASS - - - - - Del - D 68950996 68951014 2 12 266.012 - - 8 1 - - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 2 3 2 2 40 38 40 38 2 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696213898 2 71768970 A AT 300 PASS DYSF CCDS46323.1 r.? - - Ins intronic I 71768970 71768980 1 10 265.41 - - 9 1 1 DYSF|CCDS46323.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DYSF|CCDS46323.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 14 25 14 0 0 ./. 1 4 2 4 50 22 52 22 2 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696225761 2 109678619 T TA 360 PASS - - - - - Ins - I 109678619 109678621 1 16 316.083 - - 1 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 3 3 7 5 16 23 16 23 7 5 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696242318 2 157242622 GGT G 300 PASS - - - - - Del - D 157242622 157242641 2 10 268.42 - - 9 1 1 - - ./. 0 0 0 0 8 20 8 20 0 0 ./. 4 1 4 1 48 33 48 33 4 1 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696248563 2 175059681 TTC T 329 PASS OLA1 CCDS2255.1 r.? - - Del intronic D 175059681 175059697 2 15 321.502 - - 7 1 1 OLA1|CCDS2255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OLA1|CCDS2255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 24 15 24 0 0 ./. 4 2 1 2 50 42 50 42 4 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696248896 2 175872575 TAC T 300 PASS CHN1 CCDS46455.1 r.? - - Del upstream D 175872575 175872593 2 10 267.216 - - 8 1 - CHN1|CCDS46455.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CHN1|CCDS46455.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 21 20 21 20 0 0 ./. 4 1 4 2 45 34 45 34 4 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696249303 2 177106604 A AT 300 PASS - - - - - Ins - I 177106604 177106614 1 10 264.206 - - 9 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 1 5 1 34 34 34 34 5 1 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696250146 2 179681484 A AT 720 PASS TTN ENST00000412264 r.? - - Ins intronic I 179681484 179681491 1 40 635.779 - - 6 1 1 TTN|ENST00000412264|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTN|ENST00000412264|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 23 12 23 0 0 ./. 9 3 11 7 39 41 39 42 11 7 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696253374 2 189693595 G GA 900 PASS - - - - - Ins - I 189693595 189693604 1 72 791.412 - - 8 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 7 8 9 8 33 34 33 34 9 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696254939 2 194520695 A AT 360 PASS - - - - - Ins - I 194520695 194520705 1 15 317.889 - - 9 1 1 - - ./. 0 0 0 0 20 8 21 8 0 0 ./. 4 2 4 2 40 30 40 30 4 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696262395 2 215311455 A ATT 900 PASS VWC2L CCDS46509.1 r.? - - Ins intronic I 215311455 215311462 2 60 787.198 - - 6 1 1 VWC2L|CCDS46509.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VWC2L|CCDS46509.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 11 7 16 36 39 36 39 7 16 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696263287 2 217231222 ATC A 269 PASS MARCH4 CCDS33376.1 r.? - - Del intronic D 217231222 217231240 2 10 255.777 - - 8 1 1 MARCH4|CCDS33376.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MARCH4|CCDS33376.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 27 15 27 0 0 ./. 1 4 1 4 30 42 30 42 1 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696268884 2 232371582 T TC 720 PASS AC017104.3 ENST00000504794 r.? - - Ins upstream I 232371582 232371583 1 48 631.565 - - 0 1 - AC017104.3|ENST00000504794|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 AC017104.3|ENST00000504794|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 ./. 0 0 0 0 6 8 6 8 0 0 ./. 7 5 9 7 26 34 27 34 9 7 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696269971 2 235119192 A AT 420 PASS - - - - - Ins - I 235119192 235119201 1 20 371.573 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 4 9 5 21 32 22 33 9 5 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696272409 2 242362260 GC G 780 PASS FARP2 CCDS33424.1 r.? - - Del intronic D 242362260 242362263 1 56 697.892 - - 2 1 1 FARP2|CCDS33424.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FARP2|CCDS33424.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 19 22 19 0 0 ./. 7 6 8 11 27 33 27 33 8 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696296715 21 10021637 A AT 393 PASS - - - - - Ins - I 10021637 10021645 1 13 644.107 - - 7 1 1 - - ./. 0 0 0 0 77 60 77 61 0 0 ./. 12 0 18 1 244 215 245 215 18 1 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696299890 21 15498933 CT C 600 PASS LIPI CCDS13564.1 r.? - - Del intronic D 15498933 15498935 1 32 542.776 - - 1 1 1 LIPI|CCDS13564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIPI|CCDS13564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 10 23 10 0 0 ./. 7 3 9 8 35 32 35 32 9 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696306653 21 32626855 C CA 300 PASS TIAM1 CCDS13609.1 r.? - - Ins intronic I 32626855 32626863 1 12 267.174 - - 7 1 1 TIAM1|CCDS13609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TIAM1|CCDS13609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 18 21 18 0 0 ./. 2 3 2 3 37 39 37 39 2 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696323358 22 46730543 CTG C 569 PASS GTSE1 CCDS14074.2 r.? - - Del downstream D 46730543 46730547 2 32 544.536 - - 1 1 1 GTSE1|CCDS14074.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AL078611.1|ENST00000509577|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 7 4 9 9 27 9 27 4 9 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696324955 3 368184 A AT 720 PASS CHL1 CCDS2556.1 r.? - - Ins intronic I 368184 368193 1 48 637.052 - - 8 1 1 CHL1|CCDS2556.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHL1|CCDS2556.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 5 7 8 10 32 30 33 30 8 10 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696330155 3 14466265 AT A 898 PASS SLC6A6 CCDS33705.1 r.? - - Del intronic D 14466265 14466267 1 80 860.641 - - 1 1 1 SLC6A6|CCDS33705.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC6A6|CCDS33705.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 7 9 11 11 24 32 24 32 11 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696330664 3 16002236 TTC T 269 PASS - - - - - Del - D 16002236 16002254 2 12 263.532 - - 8 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 2 3 3 31 26 31 26 3 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696334329 3 27816760 AG A 780 PASS - - - - - Del - D 27816760 27816765 1 50 699.271 - - 4 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 9 4 11 4 38 21 38 21 11 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696345172 3 59358179 G GA 300 PASS - - - - - Ins - I 59358179 59358189 1 12 264.134 - - 9 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 3 2 4 2 44 36 44 36 4 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696345220 3 59626697 G GT 480 PASS - - - - - Ins - I 59626697 59626706 1 25 424.902 - - 8 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 4 8 6 41 30 41 30 8 6 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696347145 3 65320420 CT C 300 PASS - - - - - Del - D 65320420 65320430 1 12 268.95 - - 9 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 2 3 2 3 39 24 39 24 2 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696347226 3 65530978 AAG A 420 PASS MAGI1 CCDS33781.1 r.? - - Del intronic D 65530978 65530996 2 20 376.53 - - 8 1 1 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 3 4 3 5 18 53 18 53 3 5 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696348774 3 70354371 C CT 780 PASS - - - - - Ins - I 70354371 70354381 1 56 689.036 - - 9 1 1 - - ./. 0 0 0 0 23 20 23 20 0 0 ./. 7 6 11 11 46 46 47 47 11 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696349958 3 73403267 CAG C 360 PASS AC103560.1 ENST00000509224 r.? - - Del intronic D 73403267 73403285 2 15 321.536 - - 8 1 1 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 2 4 2 34 28 34 28 4 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696355993 3 88244619 C CCT 300 PASS - - - - - Ins - I 88244619 88244620 2 6 256.307 - - 0 1 - - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 0 5 1 1 22 29 22 29 1 6 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696357801 3 97427369 C CT 360 PASS EPHA6 CCDS46876.1 r.? - - Ins intronic I 97427369 97427374 1 15 319.128 - - 4 1 1 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 14 16 0 0 ./. 4 2 6 7 30 31 30 32 6 7 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696363193 3 112778029 CAT C 689 PASS - - - - - Del - D 112778029 112778032 2 33 645.481 - - 1 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 2 10 4 15 23 44 23 44 4 15 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696366185 3 121466373 C CTATTTTTA 406 PASS GOLGB1 CCDS3004.1 r.? - - Ins intronic I 121466373 121466390 8 28 685.63 - - 2 1 1 GOLGB1|CCDS3004.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GOLGB1|CCDS3004.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 2 8 2 0 0 ./. 13 1 11 2 34 6 36 6 13 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696368624 3 128885813 TAG T 540 PASS CNBP CCDS46906.1 r.? - - Del downstream D 128885813 128885817 2 28 472.069 - - 1 1 1 CNBP|CCDS46906.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CNBP|CCDS46906.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 14 10 14 0 0 ./. 6 3 8 7 30 21 30 21 8 7 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696376432 3 152306856 ATC A 300 PASS - - - - - Del - D 152306856 152306873 2 12 268.95 - - 8 1 1 - - ./. 0 0 0 0 11 23 11 23 0 0 ./. 3 2 3 2 29 34 29 34 3 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696381480 3 168497536 AG A 480 PASS - - - - - Del - D 168497536 168497538 1 24 427.912 - - 1 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 5 6 9 28 31 28 31 6 9 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696383797 3 175092705 A ATAAG 269 PASS NAALADL2 CCDS46960.1 r.? - - Ins intronic I 175092705 175092711 4 12 256.909 - - 1 1 - NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 3 9 3 0 0 ./. 2 3 4 4 30 18 30 18 4 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696384646 3 177542434 GGAATAGATTCTGAAAAGGGGGGTGGG GAAGTGTAAGACTTTTC 493 PASS - - - - - Complex - DI 177542435 177542460 26 84 0 - - 0 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 11 6 0 0 29 17 32 19 11 6 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696385343 3 179756307 A AT 720 PASS PEX5L CCDS3236.1 r.? - - Ins upstream I 179756307 179756316 1 48 636.45 - - 8 1 1 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 16 19 16 19 0 0 ./. 5 7 7 12 36 46 36 46 7 12 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696387640 3 186054522 CAG C 300 PASS DGKG CCDS3274.1 r.? - - Del intronic D 186054522 186054536 2 12 268.95 - - 6 1 1 DGKG|CCDS3274.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DGKG|CCDS3274.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 3 2 34 53 34 53 3 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696399346 4 20442152 TA T 300 PASS SLIT2 ENST00000504154 r.? - - Del intronic D 20442152 20442162 1 12 268.2 - - 9 1 1 SLIT2|ENST00000504154|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT2|ENST00000504154|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 2 3 2 29 31 29 31 3 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696402112 4 27830837 C CA 360 PASS - - - - - Ins - I 27830837 27830846 1 16 312.93 - - 8 1 1 - - ./. 0 0 0 0 8 19 8 20 0 0 ./. 3 3 5 3 30 29 30 29 5 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696402122 4 27870795 TTC T 300 PASS - - - - - Del - D 27870795 27870811 2 12 268.2 - - 7 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 2 3 2 4 37 35 37 35 2 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696404447 4 34947986 TTTC T 778 PASS - - - - - Del - D 34947986 34947993 3 63 751.443 - - 2 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 6 8 7 8 20 26 20 26 7 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696409408 4 48221650 TTC T 300 PASS TEC CCDS3481.1 r.? - - Del intronic D 48221650 48221666 2 12 266.394 - - 7 1 1 TEC|CCDS3481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TEC|CCDS3481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 2 3 38 20 38 20 2 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696417948 4 71341538 TAG T 300 PASS MUC7 CCDS3541.1 r.? - - Del intronic D 71341538 71341551 2 12 268.802 - - 6 1 1 MUC7|CCDS3541.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MUC7|CCDS3541.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 3 2 4 2 36 30 36 30 4 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696419144 4 75000971 TTTAG T 869 PASS MTHFD2L ENST00000433372 r.? - - Del intronic D 75000971 75000976 4 66 805.203 - - 1 1 1 MTHFD2L|ENST00000433372|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MTHFD2L|ENST00000433372|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 10 8 11 40 37 40 37 8 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696433515 4 119443829 G GT 263 PASS - - - - - Ins - I 119443829 119443839 1 12 265.792 - - 9 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 2 3 2 5 34 46 34 46 2 5 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696434422 4 121482084 TGC T 300 PASS - - - - - Del - D 121482084 121482088 2 10 262.782 - - 1 1 - - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 4 1 3 35 30 35 30 1 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696442522 4 145163824 G GT 840 PASS - - - - - Ins - I 145163824 145163831 1 63 743.616 - - 6 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 8 6 11 25 46 25 46 6 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696458809 4 188852286 A AT 360 PASS - - - - - Ins - I 188852286 188852296 1 15 314.736 - - 9 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 4 2 4 48 28 50 29 2 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696461007 5 86478 TC T 300 PASS - - - - - Del - D 86478 86487 1 12 264.983 - - 8 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 3 2 11 10 11 10 3 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696469117 5 21957785 TTTG T 727 PASS CDH12 CCDS3890.1 r.? - - Del intronic D 21957785 21957791 3 80 857.218 - - 1 1 1 CDH12|CCDS3890.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH12|CCDS3890.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 9 7 9 9 24 40 24 40 9 9 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696471437 5 29035352 TC T 1200 PASS - - - - - Del - D 29035352 29035355 1 112 1076.19 - - 2 1 1 - - ./. 0 0 0 0 7 23 7 23 0 0 ./. 7 13 8 16 35 52 35 52 8 16 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696475613 5 39812631 T TA 1200 PASS - - - - - Ins - I 39812631 39812641 1 120 1059.93 - - 9 1 1 - - ./. 0 0 0 0 16 10 17 10 0 0 ./. 11 9 11 12 49 50 49 50 11 12 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696480386 5 57475723 T TA 300 PASS - - - - - Ins - I 57475723 57475733 1 12 266.187 - - 9 1 1 - - ./. 0 0 0 0 20 18 20 19 0 0 ./. 3 2 3 2 40 34 41 34 3 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696504911 5 133592275 TTA T 660 PASS - - - - - Del - D 133592275 133592281 2 30 587.418 - - 2 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 2 9 3 11 26 44 26 44 3 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696505681 5 135978840 TGAGAGCAAATGTCCTCTTTA T 290 PASS - - - - - Del - D 135978840 135978863 20 27 531.17 - - 1 1 1 - - ./. 0 0 0 0 25 24 25 24 0 0 ./. 2 8 2 8 24 33 24 33 2 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696515140 5 164123269 GA G 958 PASS - - - - - Del - D 164123269 164123272 1 90 914.67 - - 2 1 1 - - ./. 0 0 0 0 9 21 9 21 0 0 ./. 8 9 15 11 36 40 36 40 15 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696520428 5 178324997 C CT 300 PASS ZFP2 CCDS4440.1 r.? - - Ins intronic I 178324997 178325007 1 10 264.983 - - 9 1 1 ZFP2|CCDS4440.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZFP2|CCDS4440.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 13 25 13 0 0 ./. 1 4 1 4 50 37 52 38 1 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696523779 6 5855846 ACT A 300 PASS - - - - - Del - D 5855846 5855865 2 12 267.348 - - 9 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 2 3 2 4 43 27 43 27 2 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696545180 6 57528196 TTGTATCC T 481 PASS - - - - - Del - D 57528196 57528207 7 84 915.125 - - 1 1 1 - - ./. 0 0 0 0 47 65 47 65 0 0 ./. 6 11 6 12 69 103 69 103 6 12 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696548883 6 70079755 G GT 720 PASS BAI3 CCDS4968.1 r.? - - Ins intronic I 70079755 70079764 1 33 638.746 - - 8 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 30 27 30 0 0 ./. 10 2 14 3 39 33 39 33 14 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696552375 6 80422635 AAG A 300 PASS - - - - - Del - D 80422635 80422654 2 12 266.144 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 2 3 27 44 27 44 2 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696555913 6 90771885 CAT C 480 PASS BACH2 CCDS5026.1 r.? - - Del intronic D 90771885 90771888 2 21 430.647 - - 1 1 1 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 6 2 6 2 43 29 43 29 6 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696563375 6 112731814 T TA 900 PASS - - - - - Ins - I 112731814 112731823 1 66 797.831 - - 8 1 1 - - ./. 0 0 0 0 14 19 14 20 0 0 ./. 5 10 8 13 39 38 39 39 8 13 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696566772 6 122977170 C CTTTTATGGTATTGTGAGTTTTG 319 PASS PKIB CCDS5126.1 r.? - - Ins intronic I 122977170 122977196 22 40 444.635 - - 1 1 1 PKIB|CCDS5126.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PKIB|CCDS5126.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 4 7 2 3 23 43 25 48 4 7 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696573031 6 142825070 G GT 300 PASS - - - - - Ins - I 142825070 142825080 1 12 266.144 - - 9 1 1 - - ./. 0 0 0 0 24 15 26 15 0 0 ./. 3 2 3 2 38 32 38 32 3 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696573233 6 143685335 A AT 300 PASS - - - - - Ins - I 143685335 143685345 1 12 266.144 - - 9 1 1 - - ./. 0 0 0 0 18 19 19 20 0 0 ./. 3 2 3 2 36 44 37 44 3 2 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696576922 6 154133027 CA C 360 PASS - - - - - Del - D 154133027 154133029 1 7 315.159 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 0 6 0 7 23 27 23 27 0 7 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696582911 7 114099 T TG 389 PASS - - - - - Ins - I 114099 114106 1 20 372.738 - - 6 1 1 - - ./. 0 0 0 0 21 16 21 17 0 0 ./. 3 4 5 8 37 41 38 41 5 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696583755 7 2480040 ATG A 300 PASS ENSG00000230059 ENST00000432223 r.? - - Del intronic D 2480040 2480058 2 12 269.252 - - 8 1 - ENSG00000230059|ENST00000432223|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000230059|ENST00000432223|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 3 3 3 31 32 31 32 3 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696598104 7 41122663 AC A 600 PASS - - - - - Del - D 41122663 41122666 1 35 537.902 - - 2 1 1 - - ./. 0 0 0 0 28 10 28 10 0 0 ./. 6 4 7 8 30 29 30 29 7 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696598515 7 42345131 TC T 900 PASS - - - - - Del - D 42345131 42345133 1 72 807.755 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 8 7 10 11 31 47 31 47 10 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696600464 7 47951448 AAC A 300 PASS PKD1L1 CCDS34633.1 r.? - - Del intronic D 47951448 47951465 2 12 259.017 - - 8 1 1 PKD1L1|CCDS34633.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKD1L1|CCDS34633.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 3 3 4 32 44 32 44 3 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696601405 7 51000221 A AT 900 PASS - - - - - Ins - I 51000221 51000230 1 72 798.724 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 7 8 8 12 35 43 35 43 8 12 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696602998 7 55136462 AAG A 300 PASS EGFR CCDS5514.1 r.? - - Del intronic D 55136462 55136480 2 10 269.252 - - 8 1 1 EGFR|CCDS5514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EGFR|CCDS5514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 17 26 17 0 0 ./. 4 1 5 1 28 38 28 38 5 1 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696617432 7 94927349 TA T 1020 PASS PON1 CCDS5638.1 r.2206delU c.? p.? Del 3'UTR variant D 94927349 94927351 1 88 912.446 - - 1 1 1 PON1|CCDS5638.1|r.2206delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PON1|CCDS5638.1|r.2206delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 19 14 19 14 0 0 ./. 7 10 12 14 43 30 43 30 12 14 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696628094 7 125856242 GAC G 360 PASS - - - - - Del - D 125856242 125856260 2 15 323.102 - - 8 1 - - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 2 4 3 4 38 42 38 42 3 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696639478 7 156338447 T TA 1080 PASS - - - - - Ins - I 156338447 156338456 1 91 958.469 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 12 6 18 12 41 34 43 34 18 12 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696644353 8 10079602 TA T 300 PASS MSRA CCDS47799.1 r.? - - Del intronic D 10079602 10079606 1 10 268.992 - - 3 1 1 MSRA|CCDS47799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSRA|CCDS47799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 1 4 1 5 32 35 32 35 1 5 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696653238 8 33074883 GTC G 300 PASS - - - - - Del - D 33074883 33074901 2 12 269.594 - - 8 1 - - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 2 3 3 23 30 23 30 3 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696660575 8 58935777 AATAG A 658 PASS FAM110B CCDS6170.1 r.? - - Del intronic D 58935777 58935786 4 48 645.822 - - 2 1 1 FAM110B|CCDS6170.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM110B|CCDS6170.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 7 5 9 5 38 30 38 30 9 5 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696666657 8 78121051 G GT 300 PASS - - - - - Ins - I 78121051 78121061 1 12 265.38 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 3 2 3 49 37 49 37 2 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696667854 8 81708465 ACT A 1080 PASS ZNF704 CCDS34913.1 r.? - - Del intronic D 81708465 81708472 2 91 966.926 - - 3 1 1 ZNF704|CCDS34913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF704|CCDS34913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 24 16 24 0 0 ./. 6 12 9 14 39 42 39 42 9 14 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696673462 8 99120004 A AAT 356 PASS HRSP12 CCDS6276.1 r.? - - Ins intronic I 99120004 99120005 2 24 406.064 - - 0 1 1 HRSP12|CCDS6276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HRSP12|CCDS6276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 4 10 4 0 0 ./. 5 3 0 0 29 18 29 18 5 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696676313 8 107106762 AAG A 300 PASS - - - - - Del - D 107106762 107106781 2 12 269.594 - - 9 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 2 4 2 25 20 25 20 4 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696679494 8 117186314 C CG 840 PASS AF130342.1 ENST00000505156 r.? - - Ins intronic I 117186314 117186317 1 60 745.832 - - 2 1 1 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 29 8 30 0 0 ./. 5 9 8 12 28 43 28 44 8 12 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696683094 8 127577083 TG T 840 PASS - - - - - Del - D 127577083 127577087 1 64 754.863 - - 3 1 1 - - ./. 0 0 0 0 11 26 11 26 0 0 ./. 7 7 9 10 30 36 30 36 9 10 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696687773 8 142003742 CA C 720 PASS PTK2 CCDS6381.1 r.? - - Del intronic D 142003742 142003744 1 45 639.199 - - 1 1 1 PTK2|CCDS6381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTK2|CCDS6381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 8 9 13 39 47 39 47 9 13 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696690454 9 4107945 AGT A 300 PASS GLIS3 CCDS6451.1 r.? - - Del intronic D 4107945 4107961 2 6 269.958 - - 7 1 1 GLIS3|CCDS6451.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLIS3|CCDS6451.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 0 5 0 5 25 44 25 44 0 5 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696690946 9 5281935 G GA 355 PASS - - - - - Ins - I 5281935 5281945 1 16 318.531 - - 9 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 3 3 3 3 35 41 35 41 3 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696692443 9 9298259 A AT 600 PASS PTPRD CCDS43786.1 r.? - - Ins intronic I 9298259 9298268 1 35 532.089 - - 8 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 22 13 22 0 0 ./. 6 4 7 4 29 28 29 28 7 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696696737 9 20781881 CT C 720 PASS KIAA1797 CCDS34993.1 r.1515delU c.1151delT p.L385fs*3 Del frameshift D 20781881 20781886 1 45 647.898 - - 4 1 1 KIAA1797|CCDS34993.1|r.1515delU|c.1151delT|p.L385fs*3|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 KIAA1797|CCDS34993.1|r.1515delU|c.1151delT|p.L385fs*3|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 8 7 11 36 46 36 46 7 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696702903 9 38164935 CG C 660 PASS - - - - - Del - D 38164935 38164937 1 36 593.305 - - 1 1 - - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 8 3 10 3 41 23 41 23 10 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696732713 X 4701576 CAG C 300 PASS - - - - - Del - D 4701576 4701593 2 12 270.079 - - 8 1 - - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 2 4 4 34 38 34 38 4 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696738874 X 26366872 AT A 660 PASS - - - - - Del - D 26366872 26366874 1 40 594.174 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 7 5 9 35 32 35 32 5 9 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696739548 X 28912753 TAG T 522 PASS IL1RAPL1 CCDS14218.1 r.? - - Del intronic D 28912753 28912760 2 40 594.174 - - 3 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 18 22 18 0 0 ./. 4 7 4 8 24 30 24 30 4 8 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696741991 X 38646867 G GA 360 PASS - - - - - Ins - I 38646867 38646877 1 16 319.279 - - 9 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 3 3 3 4 42 52 42 52 3 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696742988 X 42516096 T TA 626 PASS - - - - - Ins - I 42516096 42516105 1 48 639.159 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 7 5 10 11 35 30 36 30 10 11 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696748804 X 69364341 AG A 780 PASS IGBP1 CCDS14396.1 r.? - - Del intronic D 69364341 69364344 1 54 702.206 - - 2 1 1 IGBP1|CCDS14396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGBP1|CCDS14396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 24 16 24 0 0 ./. 5 8 7 10 21 29 21 29 7 10 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696751349 X 78905724 CTT C 358 PASS - - - - - Del - D 78905724 78905733 2 20 378.111 - - 8 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 4 6 4 20 16 20 16 6 4 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696751759 X 80522707 TG T 316 PASS SH3BGRL CCDS14449.1 r.? - - Del intronic D 80522707 80522709 1 45 647.588 - - 1 1 1 SH3BGRL|CCDS14449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3BGRL|CCDS14449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 22 23 22 0 0 ./. 8 4 9 7 37 35 37 35 9 7 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696762762 X 122074435 GCA G 898 PASS - - - - - Del - D 122074435 122074440 2 77 863.651 - - 2 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 6 10 7 12 32 33 32 33 7 12 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696764235 X 126613301 G GA 300 PASS - - - - - Ins - I 126613301 126613311 1 12 267.069 - - 9 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 2 3 3 3 32 43 33 44 3 3 1 1 1 1 1 1 1 1 2629537 PD13358a PD13358b 2696769048 X 145025048 C CT 600 PASS - - - - - Ins - I 145025048 145025058 1 36 534.138 - - 9 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 5 5 8 6 35 34 35 34 8 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693284439 1 28760849 TG T 300 PASS PHACTR4 CCDS41293.1 r.? - - Del intronic D 28760849 28760851 1 10 237.134 - - 1 1 1 PHACTR4|CCDS41293.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHACTR4|CCDS41293.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 4 1 6 1 32 29 32 29 6 1 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693285058 1 30723760 TTG T 300 PASS - - - - - Del - D 30723760 30723776 2 12 268.441 - - 7 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 2 3 2 3 38 24 38 24 2 3 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693289666 1 43841952 TA T 300 PASS - - - - - Del - D 43841952 43841954 1 6 255.196 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 0 11 0 36 34 36 34 11 0 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693296789 1 64395094 TTC T 300 PASS ROR1 CCDS626.1 r.? - - Del intronic D 64395094 64395113 2 12 268.441 - - 9 1 1 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 2 3 2 4 37 32 37 32 2 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693300175 1 74528835 C CA 269 PASS LRRIQ3 CCDS41350.1 r.? - - Ins intronic I 74528835 74528840 1 10 264.829 - - 4 1 1 LRRIQ3|CCDS41350.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRIQ3|CCDS41350.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 16 0 0 ./. 4 1 0 3 29 32 29 32 4 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693308457 1 98867599 AG A 1140 PASS - - - - - Del - D 98867599 98867601 1 104 1019.48 - - 1 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 12 7 15 9 37 28 37 28 15 9 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693337189 1 200235709 AAC A 300 PASS - - - - - Del - D 200235709 200235727 2 6 268.441 - - 8 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 5 0 5 1 21 37 21 37 5 1 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693338406 1 203278945 T TTTTG 660 PASS BTG2 CCDS1437.1 r.? - - Ins downstream I 203278945 203278969 4 42 558.662 - - 5 1 - BTG2|CCDS1437.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 BTG2|CCDS1437.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 23 25 23 25 0 0 ./. 6 5 10 5 45 38 45 38 10 5 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693376602 10 59005688 TA T 840 PASS - - - - - Del - D 59005688 59005690 1 63 753.837 - - 1 1 - - - ./. 0 0 0 0 30 16 30 16 0 0 ./. 6 8 9 8 30 27 30 27 9 8 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693411479 11 21707490 A AAAATC 261 PASS - - - - - Ins - I 21707490 21707494 5 10 458.679 - - 0 1 1 - - ./. 0 0 0 0 17 24 17 24 0 0 ./. 9 0 10 0 56 55 56 55 10 0 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693412409 11 23644212 CATTTGGTGAGG C 290 PASS - - - - - Del - D 23644212 23644224 11 35 539.747 - - 1 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 6 4 6 4 47 33 47 33 6 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693416939 11 34411407 G GT 300 PASS - - - - - Ins - I 34411407 34411417 1 12 266.863 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 2 4 3 54 51 54 53 4 3 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693420486 11 44670613 TTTTA T 689 PASS - - - - - Del - D 44670613 44670622 4 48 646.492 - - 2 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 5 7 10 7 27 21 27 21 10 7 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693432328 11 81853286 TA T 660 PASS AP002802.1 ENST00000500502 r.? - - Del intronic D 81853286 81853294 1 40 591.915 - - 7 1 1 AP002802.1|ENST00000500502|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AP002802.1|ENST00000500502|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 20 20 20 0 0 ./. 7 4 10 5 18 14 18 14 10 5 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693435160 11 91130225 AC A 1200 PASS - - - - - Del - D 91130225 91130227 1 117 1079.49 - - 1 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 12 8 15 10 26 22 26 22 15 10 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693449096 12 5243775 TCAACAGGCAA T 580 PASS - - - - - Del - D 5243775 5243788 10 120 1077.41 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 9 11 11 11 31 28 31 28 11 11 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693462281 12 42139469 AC A 1380 PASS - - - - - Del - D 42139469 42139473 1 156 1240.5 - - 3 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 12 11 14 16 31 38 31 38 14 16 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693480376 12 96110760 GTATTTT G 319 PASS NTN4 CCDS9054.1 r.? - - Del intronic D 96110760 96110768 6 40 593.571 - - 1 1 1 NTN4|CCDS9054.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTN4|CCDS9054.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 7 4 7 8 26 28 26 28 7 8 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693486039 12 112629174 AT A 1020 PASS C12orf51 CCDS44978.1 r.? - - Del intronic D 112629174 112629176 1 84 914.326 - - 1 1 1 C12orf51|CCDS44978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C12orf51|CCDS44978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 8 18 8 0 0 ./. 6 11 10 14 37 37 37 37 10 14 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693486960 12 115448903 TA T 300 PASS - - - - - Del - D 115448903 115448913 1 10 269.805 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 1 4 1 35 20 35 20 4 1 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693498869 13 29219568 C CCA 298 PASS - - - - - Ins - I 29219568 29219569 2 16 305.847 - - 0 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 3 0 0 37 25 37 26 3 3 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693500231 13 32723612 GT G 300 PASS FRY CCDS41875.1 r.? - - Del intronic D 32723612 32723614 1 6 270.426 - - 1 1 1 FRY|CCDS41875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRY|CCDS41875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 6 18 6 0 0 ./. 5 0 9 0 37 9 37 9 9 0 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693502583 13 39358235 C CA 300 PASS FREM2 CCDS31960.1 r.? - - Ins intronic I 39358235 39358245 1 10 265.609 - - 9 1 1 FREM2|CCDS31960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FREM2|CCDS31960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 4 1 4 2 36 28 37 28 4 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693525779 13 104714723 T TACACGCACACTCTCTCTCTCTCTCATAC 300 PASS - - - - - Ins - I 104714723 104714728 28 12 184.331 - - 0 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 0 0 25 18 25 19 3 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693530972 14 23053678 CA C 300 PASS DAD1 CCDS9571.1 r.? - - Del intronic D 23053678 23053688 1 12 268.885 - - 9 1 1 DAD1|CCDS9571.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAD1|CCDS9571.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 2 3 2 30 44 30 44 3 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693544545 14 60431412 C CA 360 PASS - - - - - Ins - I 60431412 60431416 1 16 317.003 - - 3 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 3 5 6 31 39 31 39 5 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693548232 14 71006540 C CT 291 PASS ADAM20 CCDS32111.1 r.? - - Ins upstream I 71006540 71006543 1 16 321.217 - - 2 1 1 ADAM20|CCDS32111.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ADAM20|CCDS32111.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 3 3 30 24 30 24 3 3 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693548862 14 72867789 AT A 300 PASS RGS6 CCDS9808.1 r.? - - Del intronic D 72867789 72867799 1 10 270.691 - - 9 1 1 RGS6|CCDS9808.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS6|CCDS9808.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 21 14 21 0 0 ./. 1 4 1 4 29 51 29 51 1 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693562572 15 22363433 CT C 720 PASS - - - - - Del - D 22363433 22363441 1 48 649.438 - - 7 1 1 - - ./. 0 0 0 0 27 34 27 34 0 0 ./. 7 5 9 5 42 44 42 44 9 5 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693565659 15 31065862 T TC 449 PASS ENSG00000203289 ENST00000366119 r.? - - Ins downstream I 31065862 31065863 1 24 407.471 - - 0 1 - ENSG00000203289|ENST00000366119|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000203289|ENST00000366119|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 3 7 8 26 36 26 36 7 8 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693570002 15 42842586 T TA 900 PASS HAUS2 CCDS10090.1 r.? - - Ins intronic I 42842586 42842588 1 72 803.519 - - 1 1 1 HAUS2|CCDS10090.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HAUS2|CCDS10090.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 8 7 16 12 39 39 39 40 16 12 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693575714 15 59331867 AT A 1020 PASS RNF111 CCDS10169.1 r.? - - Del intronic D 59331867 59331869 1 70 911.858 - - 1 1 1 RNF111|CCDS10169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF111|CCDS10169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 4 13 6 18 20 34 20 34 6 18 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693577486 15 63880124 C CT 780 PASS USP3 CCDS32265.1 r.? - - Ins intronic I 63880124 63880133 1 36 696.383 - - 8 1 1 USP3|CCDS32265.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AC118274.1|ENST00000499437|r.1568_1569insa|-|-|non_protein_coding:exon:insertion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000667:SO:0001619 ./. 0 0 0 0 18 8 18 8 0 0 ./. 2 11 4 15 25 35 25 35 4 15 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693588038 15 94890001 AACGAATGATGGGGAGTAGAAAAAATGTTG A 406 PASS MCTP2 CCDS32338.1 r.? - - Del intronic D 94890001 94890034 29 55 757.175 - - 1 1 1 MCTP2|CCDS32338.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCTP2|CCDS32338.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 28 13 28 0 0 ./. 4 10 0 9 16 34 19 35 4 10 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693589033 15 98035550 GGA G 420 PASS - - - - - Del - D 98035550 98035569 2 20 376.179 - - 9 1 - - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 4 3 4 34 31 34 31 3 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693591021 16 878087 A AGGGGAAATGAACTCTCGGCCTCCAGGGCAGCCAGGCAGGGGTCTGGCCCAGTCCTAGCCG 319 PASS - - - - - Ins - I 878087 878115 60 42 198.212 - - 0 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 6 5 0 0 31 36 37 41 6 5 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693593620 16 6798266 TTC T 300 PASS - - - - - Del - D 6798266 6798284 2 12 270.714 - - 8 1 - - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 2 3 3 4 31 56 31 56 3 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693594448 16 8228048 AAC A 420 PASS - - - - - Del - D 8228048 8228063 2 14 379 - - 7 1 1 - - ./. 0 0 0 0 19 23 19 23 0 0 ./. 6 1 6 1 47 40 47 40 6 1 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693604941 16 31325306 AG A 929 PASS ITGAM CCDS45470.1 r.? - - Del intronic D 31325306 31325308 1 81 865.082 - - 1 1 1 ITGAM|CCDS45470.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGAM|CCDS45470.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 8 8 10 12 48 47 48 47 10 12 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693608684 16 50292087 CA C 494 PASS - - - - - Del - D 50292087 50292089 1 10 484.275 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 0 9 1 10 11 15 11 15 1 10 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693612903 16 65398195 CAGTT C 956 PASS AC009055.1 ENST00000505989 r.? - - Del intronic D 65398195 65398204 4 84 973.367 - - 2 1 1 AC009055.1|ENST00000505989|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC009055.1|ENST00000505989|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 24 14 24 0 0 ./. 5 13 9 15 18 22 18 22 9 15 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693619339 16 88621742 TTG T 269 PASS C16orf85 ENST00000378416 r.? - - Del intronic D 88621742 88621745 2 6 252.05 - - 1 1 1 C16orf85|ENST00000378416|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C16orf85|ENST00000378416|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 5 0 6 0 18 18 18 18 6 0 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693623513 17 10633185 CGCGGGGCGGTGAGTCCTGCCACGT C 290 PASS TMEM220 CCDS32567.1 r.438_461del24 c.? p.? Del 5'UTR variant D 10633185 10633234 24 20 503.616 - - 2 1 1 TMEM220|CCDS32567.1|r.438_461del24|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 TMEM220|CCDS32567.1|r.438_461del24|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 9 0 6 7 13 8 17 1 10 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693639554 17 57218629 GCGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGCGGA G 290 PASS SKA2 CCDS45747.1 r.? - - Del intronic D 57218629 57218693 63 35 541.546 - - 1 1 1 SKA2|CCDS45747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SKA2|CCDS45747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 14 22 14 0 0 ./. 4 6 0 0 15 13 19 19 4 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693663969 18 43687104 ACAAT A 720 PASS ATP5A1 CCDS11927.1 r.? - - Del upstream D 43687104 43687112 4 45 649.338 - - 1 1 1 ATP5A1|CCDS11927.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HAUS1|CCDS11928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 8 4 9 5 35 20 35 20 9 5 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693666392 18 50730275 TGCAG T 838 PASS DCC CCDS11952.1 r.? - - Del intronic D 50730275 50730281 4 72 812.425 - - 1 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 7 8 8 9 32 38 32 38 8 9 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693667202 18 53236802 TA T 540 PASS TCF4 CCDS42438.1 r.? - - Del intronic D 53236802 53236809 1 30 486.251 - - 6 1 1 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 5 4 7 6 24 28 24 28 7 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693669844 18 60855450 TA T 300 PASS BCL2 CCDS11981.1 r.? - - Del intronic D 60855450 60855452 1 12 270.808 - - 1 1 1 BCL2|CCDS11981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCL2|CCDS11981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 2 3 4 42 33 42 33 3 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693675123 18 74876655 ATGGCGCGGGAAGGGTGTGTGTGTGTGACAATTTATAAAACTATCCATAAACCAGGCGTAGCCAGCTCTTCTCATCTTGGGGGAGGATCCTGGACCCGCTACCCCACCGCGTTTTACTCATGCAGTGTGGACGCAGGAAGGCCCCTCTGCAGAGCGCGGTGTGCCCACCGCCATGTCTAAGGAAATGAGTAGACAGGGGCACGTGGGGCTCCTGGGAGGCGGAAAAGCAGACAGCAGCTTCCTGATGAGGTGACACCCGCTTCTCAGGCTGGGAGGCTGCCAGGGCTGTGGTGAATTTCTAGAAGGGAGGGGACCATGGTGCTGGGCACAGTCTACATTCCAGTCACGTCTGAATGGCTTCTTGTGTGTCCTTTAACTTGATTCTCACAGCAGTTCACTCTTCAGGGGCCCCCTGCCTGGGTTGGATCTGACCCCCTCCTACCTGGGAGGGGTTTTGGCTTTTGCCTCACTTCTCTGCACCTGTTTCCTTACCTGTAAAATGGGAAGGCGATGGCGAG A 319 PASS - - - - - Del - D 74876655 74877174 517 42 595.778 - - 1 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 6 5 0 0 14 10 20 15 6 5 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693679344 19 7637002 GGT G 329 PASS - - - - - Del - D 7637002 7637005 2 7 317.312 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 0 9 0 30 20 30 20 9 0 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693691606 19 39131881 AGGCAGAGGTTG A 290 PASS EIF3K CCDS12517.1 r.? - - Del downstream D 39131881 39131893 11 27 541.296 - - 1 1 1 EIF3K|CCDS12517.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 EIF3K|CCDS12517.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 13 5 13 0 0 ./. 2 8 2 12 11 30 11 30 2 12 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693696490 19 50913790 CAG C 1080 PASS POLD1 CCDS12795.1 r.? - - Del intronic D 50913790 50913797 2 99 969.998 - - 3 1 1 POLD1|CCDS12795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POLD1|CCDS12795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 8 10 11 14 34 38 34 38 11 14 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693701788 2 4081703 C CT 720 PASS - - - - - Ins - I 4081703 4081713 1 45 633.685 - - 9 1 1 - - ./. 0 0 0 0 12 25 12 25 0 0 ./. 8 4 9 6 26 31 26 33 9 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693704609 2 11904710 GT G 600 PASS LPIN1 CCDS1682.1 r.? - - Del intronic D 11904710 11904713 1 36 535.296 - - 2 1 1 LPIN1|CCDS1682.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPIN1|CCDS1682.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 5 5 8 21 22 21 22 5 8 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693705652 2 15319336 CGT C 300 PASS NBAS CCDS1685.1 r.? - - Del intronic D 15319336 15319353 2 10 264.337 - - 8 1 1 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 1 4 1 26 35 26 35 4 1 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693707999 2 23527205 GCT G 420 PASS - - - - - Del - D 23527205 23527224 2 20 375.971 - - 9 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 3 4 3 43 33 43 33 4 3 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693711287 2 32271073 TTTT TA 329 PASS - - - - - Complex - DI 32271074 32271076 3 12 0 - - 0 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 1 5 0 0 19 17 19 17 1 5 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693711574 2 32973988 CAGG C 766 PASS TTC27 CCDS33176.1 r.? - - Del intronic D 32973988 32973994 3 84 899.828 - - 1 1 1 TTC27|CCDS33176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC27|CCDS33176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 11 6 12 9 32 19 32 19 12 9 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693729423 2 85634572 ATGCC A 540 PASS CAPG CCDS1974.1 r.? - - Del intronic D 85634572 85634579 4 28 482.79 - - 1 1 1 CAPG|CCDS1974.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CAPG|CCDS1974.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 6 21 6 0 0 ./. 3 6 6 7 22 13 22 13 6 7 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693739109 2 117785311 GC G 300 PASS - - - - - Del - D 117785311 117785315 1 10 268.551 - - 3 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 1 4 2 36 19 36 19 4 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693745208 2 134848811 T TCCTC 656 PASS - - - - - Ins - I 134848811 134848821 4 56 665.721 - - 2 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 6 7 8 9 38 30 38 31 8 9 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693755706 2 167307607 GT G 720 PASS SCN7A CCDS46442.1 r.? - - Del intronic D 167307607 167307611 1 48 644.522 - - 3 1 1 SCN7A|CCDS46442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCN7A|CCDS46442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 14 28 14 0 0 ./. 5 7 7 7 29 23 29 23 7 7 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693756315 2 169199952 T TTA 418 PASS - - - - - Ins - I 169199952 169199953 2 24 415.232 - - 0 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 3 5 0 0 38 37 38 39 3 5 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693760809 2 181733775 AC A 300 PASS - - - - - Del - D 181733775 181733777 1 6 267.949 - - 1 1 - - - ./. 0 0 0 0 24 11 24 11 0 0 ./. 5 0 7 2 30 27 30 27 7 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693764602 2 193223222 T TA 660 PASS - - - - - Ins - I 193223222 193223231 1 22 584.19 - - 8 1 1 - - ./. 0 0 0 0 25 2 25 2 0 0 ./. 10 1 12 1 28 3 28 3 12 1 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693765066 2 195099564 GC G 660 PASS - - - - - Del - D 195099564 195099566 1 40 590.812 - - 1 1 1 - - ./. 0 0 0 0 24 17 24 17 0 0 ./. 4 7 7 10 20 25 20 25 7 10 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693765081 2 195165819 GA G 660 PASS - - - - - Del - D 195165819 195165825 1 40 590.812 - - 5 1 1 - - ./. 0 0 0 0 18 24 18 24 0 0 ./. 7 4 10 5 33 25 33 25 10 5 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693765970 2 197792564 TGC T 298 PASS PGAP1 CCDS2318.1 r.? - - Del upstream D 197792564 197792568 2 15 313.23 - - 1 1 1 PGAP1|CCDS2318.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PGAP1|CCDS2318.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 2 5 3 25 32 25 32 5 3 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693784701 20 8327880 AATAATGTC A 464 PASS PLCB1 CCDS13103.1 r.? - - Del intronic D 8327880 8327892 8 72 867.971 - - 1 1 1 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 11 5 12 6 41 32 41 32 12 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693800771 20 54819405 CCA C 300 PASS MC3R CCDS13449.2 r.? - - Del upstream D 54819405 54819421 2 12 271.429 - - 7 1 1 MC3R|CCDS13449.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 MC3R|CCDS13449.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 2 3 2 29 28 29 28 3 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693807015 21 11129360 AT A 319 PASS - - - - - Del - D 11129360 11129368 1 9 434.494 - - 7 1 1 - - ./. 0 0 0 0 103 85 103 85 0 0 ./. 0 8 1 11 110 175 110 175 1 11 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693823995 22 25721223 A AAT 298 PASS - - - - - Ins - I 25721223 25721224 2 12 320.538 - - 0 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 1 5 0 0 17 19 17 20 1 5 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693831569 3 448097 TC T 389 PASS CHL1 CCDS2556.1 r.5021delC c.? p.? Del 3'UTR variant D 448097 448099 1 8 355.612 - - 1 1 1 CHL1|CCDS2556.1|r.5021delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CHL1|CCDS2556.1|r.5021delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 18 17 18 0 0 ./. 7 0 13 0 47 38 47 38 13 0 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693832320 3 2354407 CT C 780 PASS CNTN4 CCDS43041.1 r.? - - Del intronic D 2354407 2354416 1 54 699.556 - - 8 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 20 22 20 0 0 ./. 5 8 11 12 50 59 50 59 11 12 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693842291 3 26931551 ATC A 300 PASS - - - - - Del - D 26931551 26931571 2 10 269.06 - - 9 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 1 4 1 43 45 43 45 4 1 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693843539 3 30444841 TTC T 420 PASS - - - - - Del - D 30444841 30444857 2 20 376.684 - - 7 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 3 5 3 41 38 41 38 5 3 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693866658 3 108944312 G GT 300 PASS - - - - - Ins - I 108944312 108944322 1 12 265.448 - - 9 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 2 3 2 4 45 35 46 36 2 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693873972 3 130832558 T TA 900 PASS NEK11 CCDS3069.1 r.? - - Ins intronic I 130832558 130832560 1 66 793.935 - - 1 1 1 NEK11|CCDS3069.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NEK11|CCDS3069.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 10 6 14 25 33 25 33 6 14 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693878897 3 146187566 CA C 300 PASS PLSCR2 CCDS3134.1 r.? - - Del intronic D 146187566 146187568 1 6 269.06 - - 1 1 1 PLSCR2|CCDS3134.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLSCR2|CCDS3134.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 6 16 6 0 0 ./. 0 5 0 6 14 26 14 26 0 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693888222 3 174482787 G GT 300 PASS NAALADL2 ENST00000434257 r.? - - Ins intronic I 174482787 174482797 1 10 266.05 - - 9 1 1 NAALADL2|ENST00000434257|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NAALADL2|ENST00000434257|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 19 23 19 0 0 ./. 1 4 1 4 37 44 38 44 1 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693899512 4 8332647 AC A 718 PASS - - - - - Del - D 8332647 8332649 1 50 699.218 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 9 4 12 7 34 24 34 24 12 7 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693912494 4 45983369 A AT 420 PASS - - - - - Ins - I 45983369 45983379 1 20 370.481 - - 9 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 4 3 5 4 28 29 28 29 5 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693914971 4 54294495 G GAT 840 PASS FIP1L1 CCDS3491.1 r.? - - Ins intronic I 54294495 54294506 2 64 735.544 - - 5 1 1 FIP1L1|CCDS3491.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FIP1L1|CCDS3491.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 30 24 30 24 0 0 ./. 7 7 12 13 34 36 35 37 12 13 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693925633 4 84910144 C CT 300 PASS - - - - - Ins - I 84910144 84910154 1 12 262.307 - - 9 1 1 - - ./. 0 0 0 0 20 12 20 13 0 0 ./. 3 2 3 2 38 31 38 31 3 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693929209 4 96043658 CCTGTTGCAGAAAAAAATATTTGTTGTTCTGGAAAATGTTCACAGTATTATAAATGAGAACAACCTAGTTATAAATCAGTATATATTATATTTTGCTTATGAACATTTTTATTGAAATGATACTGTTAGCAGTAATTTTTCCTGAGTGTTGAAGAGGTAGTGATTTTATTTTATTTTGGTTAGTTGATCCTTTTCAGTTTTTCTTCATGTAACATATAATACTTCTGAGTAAAAAAAGTTACATTGAGTGGAAGAACATTCCCAGCCAAAATATTTAGGTGGCCATATAGTTAAAGGTATATAGTACAGTTGGAAAACGTCTTGTCCATAGCATCCAAAGTCATAAATTACAATACTACCTTTTAAAATTAAATGACAGTAATCACTCTCTCAAAGGTAAATGGTGCCTTTAATAAGAATGGTACTAATGGTATTACTATATAAGTGCACCTGGTTTTAAGTCAGTTTCCTCAAAATATGTCCCAGAAATCACCCGTGTAAAATTTACCTGGGATGATTATTAAAAATAAAGTACTTTGAATGGAAATCTTTGGGGTTAAAGTCAGTGAATATACATTGTATAAAGTTAAGT C 319 PASS BMPR1B CCDS3642.1 r.? - - Del intronic D 96043658 96044251 591 42 591.646 - - 1 1 1 BMPR1B|CCDS3642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BMPR1B|CCDS3642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 21 10 21 0 0 ./. 6 5 0 0 14 19 20 24 6 5 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693930288 4 99895564 CT C 329 PASS - - - - - Del - D 99895564 99895572 1 15 322.716 - - 7 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 2 4 5 6 19 31 19 31 5 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693939529 4 128120436 AT A 420 PASS - - - - - Del - D 128120436 128120444 1 18 374.094 - - 7 1 1 - - ./. 0 0 0 0 10 23 10 23 0 0 ./. 2 5 4 6 26 24 26 24 4 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693944164 4 141949702 A AT 1140 PASS RNF150 ENST00000306799 r.? - - Ins intronic I 141949702 141949707 1 108 1008.69 - - 4 1 1 RNF150|ENST00000306799|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF150|ENST00000306799|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 26 18 26 0 0 ./. 11 8 15 12 44 34 44 35 15 12 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693944530 4 143147396 TAC T 360 PASS INPP4B CCDS47112.1 r.? - - Del intronic D 143147396 143147412 2 15 319.706 - - 7 1 - INPP4B|CCDS47112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INPP4B|CCDS47112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 26 15 26 0 0 ./. 2 4 2 4 26 36 26 36 2 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693944563 4 143260828 CATT C 836 PASS INPP4B CCDS47112.1 r.? - - Del intronic D 143260828 143260835 3 77 860.576 - - 2 1 1 INPP4B|CCDS47112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INPP4B|CCDS47112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 6 10 7 11 24 33 24 33 7 11 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693948411 4 155396618 CT C 300 PASS DCHS2 CCDS47150.1 r.? - - Del intronic D 155396618 155396628 1 12 268.93 - - 9 1 1 DCHS2|CCDS47150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCHS2|CCDS47150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 3 2 3 2 37 30 37 30 3 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693960244 4 186748214 T TCATCATCACCATCATCATCATCAC 389 PASS SORBS2 CCDS3845.1 r.? - - Ins intronic I 186748214 186748235 24 14 272.948 - - 0 1 - SORBS2|CCDS3845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SORBS2|CCDS3845.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 20 23 20 0 0 ./. 1 6 0 0 51 44 51 45 1 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693963400 5 567557 AAG A 420 PASS - - - - - Del - D 567557 567576 2 18 373.455 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 2 6 2 33 23 33 23 6 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693967750 5 13148369 T TA 660 PASS - - - - - Ins - I 13148369 13148370 1 42 585.309 - - 0 1 1 - - ./. 0 0 0 0 13 15 13 16 0 0 ./. 6 5 8 8 23 31 23 31 8 8 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693978010 5 40468247 AAC A 300 PASS - - - - - Del - D 40468247 40468265 2 12 269.333 - - 8 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 2 3 3 3 25 32 25 32 3 3 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693980096 5 50878970 TC T 300 PASS - - - - - Del - D 50878970 50878972 1 6 257.292 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 0 6 0 27 24 27 24 6 0 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693985463 5 66959887 G GC 658 PASS - - - - - Ins - I 66959887 66959890 1 45 639.176 - - 2 1 1 - - ./. 0 0 0 0 17 15 18 15 0 0 ./. 8 4 10 6 28 35 29 35 10 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2693998920 5 110314105 T TA 540 PASS - - - - - Ins - I 110314105 110314106 1 24 479.382 - - 0 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 7 2 10 6 36 27 37 27 10 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694013034 5 154322876 GCTCAGGCTGGTCTCTAACTCC G 551 PASS MRPL22 CCDS43391.1 r.? - - Del intronic D 154322876 154322898 21 98 1023.47 - - 1 1 1 MRPL22|CCDS43391.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MRPL22|CCDS43391.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 6 13 4 13 20 26 22 26 6 13 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694016476 5 164967056 GAA G 960 PASS - - - - - Del - D 164967056 164967061 2 72 861.867 - - 4 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 5 11 9 17 24 41 24 41 9 17 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694018270 5 170607622 CT C 1109 PASS RANBP17 CCDS34287.1 r.? - - Del intronic D 170607622 170607629 1 108 1023.47 - - 6 1 1 RANBP17|CCDS34287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RANBP17|CCDS34287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 14 27 14 0 0 ./. 8 11 11 12 32 27 32 27 11 12 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694018795 5 171966821 A AT 517 PASS - - - - - Ins - I 171966821 171966823 1 24 479.382 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 7 2 9 3 39 17 40 18 9 3 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694024320 6 5919420 CT C 720 PASS AL136307.1 ENST00000510466 r.? - - Del intronic D 5919420 5919426 1 33 646.444 - - 5 1 1 AL136307.1|ENST00000510466|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL136307.1|ENST00000510466|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 10 3 12 28 34 28 34 3 12 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694029137 6 18054477 GGGAGGATGG GCT 290 PASS - - - - - Complex - DI 18054478 18054486 9 35 0 - - 0 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 6 4 0 0 34 20 34 20 6 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694052555 6 83203160 T TAA 780 PASS - - - - - Ins - I 83203160 83203162 2 54 685.313 - - 1 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 5 8 8 11 18 17 18 17 8 11 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694060534 6 114687037 GT G 480 PASS - - - - - Del - D 114687037 114687039 1 25 428.354 - - 1 1 1 - - ./. 0 0 0 0 28 20 28 20 0 0 ./. 4 4 9 7 20 14 20 14 9 7 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694082449 7 20932056 T TA 840 PASS - - - - - Ins - I 20932056 20932058 1 55 745.84 - - 1 1 1 - - ./. 0 0 0 0 32 13 32 13 0 0 ./. 10 4 12 4 32 24 33 24 12 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694098862 7 67123853 C CA 540 PASS - - - - - Ins - I 67123853 67123863 1 28 469.835 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 6 3 8 7 34 33 34 33 8 7 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694106874 7 88968980 T TA 1200 PASS ZNF804B CCDS5613.1 r.? - - Ins downstream I 88968980 88968982 1 120 1065.49 - - 1 1 1 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 21 14 21 14 0 0 ./. 11 9 17 11 37 34 38 35 17 11 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694109293 7 97210450 T TA 300 PASS - - - - - Ins - I 97210450 97210460 1 12 263.361 - - 9 1 1 - - ./. 0 0 0 0 23 18 23 18 0 0 ./. 3 2 3 2 30 41 30 42 3 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694113809 7 109183901 C CT 600 PASS - - - - - Ins - I 109183901 109183910 1 11 532.743 - - 8 1 1 - - ./. 0 0 0 0 1 25 1 26 0 0 ./. 0 10 0 12 0 27 0 27 0 12 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694114642 7 111968112 T TA 1440 PASS ZNF277 CCDS5755.2 r.? - - Ins intronic I 111968112 111968114 1 160 1278.58 - - 1 1 1 ZNF277|CCDS5755.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF277|CCDS5755.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 19 8 19 0 0 ./. 15 9 16 11 29 32 29 32 16 11 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694115303 7 114315683 TATC T 600 PASS FOXP2 CCDS43635.1 r.? - - Del intronic D 114315683 114315692 3 20 538.763 - - 2 1 1 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 17 4 17 0 0 ./. 1 9 1 12 6 33 6 33 1 12 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694128272 7 152022335 C CAAGCA 269 PASS BAGE3 CCDS5931.1 r.? - - Ins intronic I 152022335 152022342 5 10 253.728 - - 1 1 1 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 9 20 9 0 0 ./. 4 1 5 1 36 25 36 27 5 1 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694132624 8 4093023 CAA C 660 PASS - - - - - Del - D 4093023 4093027 2 42 593.268 - - 3 1 1 - - ./. 0 0 0 0 18 24 18 24 0 0 ./. 6 5 7 8 24 38 24 38 7 8 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694141002 8 26246780 G GA 360 PASS BNIP3L CCDS6050.1 r.? - - Ins intronic I 26246780 26246790 1 15 318.182 - - 9 1 1 BNIP3L|CCDS6050.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BNIP3L|CCDS6050.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 2 4 2 33 40 33 40 4 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694163243 8 97858803 TTC T 300 PASS ENSG00000104324 CCDS6273.1 r.? - - Del intronic D 97858803 97858821 2 10 269.667 - - 8 1 1 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 7 29 7 0 0 ./. 1 4 1 6 31 30 31 30 1 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694167569 8 111173166 G GT 329 PASS - - - - - Ins - I 111173166 111173174 1 15 295.906 - - 7 1 1 - - ./. 0 0 0 0 36 21 36 21 0 0 ./. 2 4 8 9 35 38 35 38 8 10 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694199464 9 78165072 AAC A 300 PASS - - - - - Del - D 78165072 78165090 2 12 270.06 - - 8 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 2 3 2 34 22 34 22 3 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694201998 9 86076357 AAACT A 714 PASS FRMD3 CCDS43840.1 r.? - - Del intronic D 86076357 86076365 4 66 805.965 - - 1 1 1 FRMD3|CCDS43840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD3|CCDS43840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 5 10 8 12 27 30 27 30 8 12 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694210162 9 111636134 G GT 300 PASS IKBKAP CCDS6773.1 r.? - - Ins intronic I 111636134 111636144 1 12 264.641 - - 9 1 1 IKBKAP|CCDS6773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IKBKAP|CCDS6773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 2 3 2 4 42 41 42 41 2 4 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694210921 9 113593935 CA C 300 PASS - - - - - Del - D 113593935 113593945 1 12 268.254 - - 9 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 2 3 2 3 36 39 36 39 2 3 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694211815 9 115475971 T TA 480 PASS C9orf80 CCDS6785.1 r.? - - Ins intronic I 115475971 115475980 1 21 426.677 - - 8 1 1 C9orf80|CCDS6785.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C9orf80|CCDS6785.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 2 6 4 8 31 40 31 41 4 8 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694222125 X 6938591 G GT 449 PASS - - - - - Ins - I 6938591 6938595 1 16 427.532 - - 3 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 1 7 5 7 23 34 24 34 5 7 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694230048 X 37497302 TGA T 300 PASS LANCL3 CCDS14240.1 r.? - - Del intronic D 37497302 37497319 2 10 269.616 - - 8 1 - LANCL3|CCDS14240.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LANCL3|CCDS14240.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 26 13 26 0 0 ./. 4 1 4 1 34 35 34 35 4 1 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694236911 X 68938332 G GT 300 PASS EDA CCDS14394.1 r.? - - Ins intronic I 68938332 68938342 1 12 260.585 - - 9 1 1 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 22 24 22 0 0 ./. 3 2 3 2 33 36 33 37 3 2 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694238346 X 74235374 TTTCTGAGGCCTCTG T 290 PASS - - - - - Del - D 74235374 74235394 14 36 540.435 - - 1 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 5 5 8 6 30 35 30 35 8 6 1 1 1 1 1 1 1 1 2628046 PD13359a PD13359b 2694251106 X 122704166 GC G 960 PASS - - - - - Del - D 122704166 122704169 1 81 863.492 - - 2 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 8 8 12 9 25 30 25 30 12 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689139427 1 17889529 T TGA 360 PASS ARHGEF10L CCDS182.1 r.? - - Ins intronic I 17889529 17889533 2 15 311.03 - - 1 1 1 ARHGEF10L|CCDS182.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ARHGEF10L|CCDS182.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 4 2 4 9 20 9 20 2 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689143824 1 35066850 TA T 420 PASS - - - - - Del - D 35066850 35066852 1 18 376.916 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 2 5 3 7 20 28 20 28 3 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689154158 1 73701178 AT A 600 PASS - - - - - Del - D 73701178 73701180 1 20 536.646 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 9 1 11 1 29 21 29 21 11 1 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689154547 1 74967558 TTA T 300 PASS TNNI3K CCDS44161.1 r.? - - Del intronic D 74967558 74967575 2 12 268.624 - - 8 1 1 TNNI3K|CCDS44161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNNI3K|CCDS44161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 2 3 2 19 25 19 25 3 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689158588 1 88910108 TAAAC T 749 PASS - - - - - Del - D 88910108 88910116 4 56 698.181 - - 1 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 6 7 10 8 36 45 36 45 10 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689159367 1 91771124 CT C 360 PASS HFM1 CCDS30769.2 r.? - - Del intronic D 91771124 91771134 1 15 323.071 - - 9 1 1 HFM1|CCDS30769.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HFM1|CCDS30769.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 2 6 4 33 14 33 14 6 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689161667 1 99751210 C CA 540 PASS ENSG00000117600 CCDS757.1 r.? - - Ins intronic I 99751210 99751220 1 30 475.576 - - 9 1 1 ENSG00000117600|CCDS757.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000117600|CCDS757.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 4 9 6 20 34 21 34 9 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689167420 1 119905358 GA G 300 PASS - - - - - Del - D 119905358 119905366 1 12 269.226 - - 7 1 1 - - ./. 0 0 0 0 20 9 20 9 0 0 ./. 3 2 3 4 25 32 25 32 3 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689174981 1 161937627 CA C 1020 PASS ATF6 CCDS1235.1 r.? - - Del downstream D 161937627 161937629 1 88 915.368 - - 1 1 1 ATF6|CCDS1235.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ATF6|CCDS1235.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 10 14 10 0 0 ./. 10 7 11 8 28 22 28 22 11 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689176415 1 166633303 TACATTAGAAAAGAAAATAA T 377 PASS - - - - - Del - D 166633303 166633324 19 54 696.977 - - 1 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 5 8 6 8 31 33 31 33 6 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689178404 1 173261127 TA T 300 PASS AL022310.2 ENST00000421168 r.? - - Del intronic D 173261127 173261137 1 12 266.216 - - 9 1 1 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 2 9 6 27 38 27 38 9 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689179424 1 177404151 TCTC T 269 PASS - - - - - Del - D 177404151 177404158 3 12 268.022 - - 2 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 2 3 3 6 27 25 27 25 3 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689184045 1 193238907 CAT C 780 PASS - - - - - Del - D 193238907 193238911 2 50 699.987 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 9 4 11 7 27 27 27 27 11 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689188604 1 208608184 A AT 660 PASS - - - - - Ins - I 208608184 208608194 1 36 577.245 - - 9 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 3 8 3 8 34 38 35 38 3 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689192260 1 220774238 T TC 456 PASS MARK1 CCDS31029.2 r.? - - Ins intronic I 220774238 220774239 1 24 421.129 - - 0 1 - MARK1|CCDS31029.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MARK1|CCDS31029.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 5 8 6 20 34 20 34 8 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689193986 1 226882062 C CT 900 PASS ITPKB CCDS1555.1 r.? - - Ins intronic I 226882062 226882067 1 72 798.647 - - 4 1 1 ITPKB|CCDS1555.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITPKB|CCDS1555.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 8 7 9 11 26 31 26 31 9 11 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689194760 1 229405635 TCA T 269 PASS RAB4A CCDS31050.1 r.? - - Del upstream D 229405635 229405652 2 12 266.216 - - 8 1 1 RAB4A|CCDS31050.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 RAB4A|CCDS31050.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 17 7 17 7 0 0 ./. 2 3 2 3 31 36 31 36 2 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689195292 1 231564158 CA C 300 PASS EGLN1 CCDS1595.1 r.? - - Del upstream D 231564158 231564168 1 10 269.226 - - 9 1 1 EGLN1|CCDS1595.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 EGLN1|CCDS1595.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 1 4 1 27 30 27 30 4 1 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689195349 1 231892854 TTGTATCAACA T 261 PASS DISC1 CCDS31055.1 r.? - - Del intronic D 231892854 231892867 10 30 482.8 - - 1 1 1 DISC1|CCDS31055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DISC1|CCDS31055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 5 4 7 30 28 31 28 5 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689195684 1 233123819 TC T 569 PASS PCNXL2 CCDS44335.1 r.? - - Del intronic D 233123819 233123821 1 32 533.635 - - 1 1 1 PCNXL2|CCDS44335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCNXL2|CCDS44335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 7 6 12 22 30 22 30 6 12 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689202563 10 2908770 TG T 420 PASS ENSG00000214531 ENST00000398522 r.? - - Del intronic D 2908770 2908773 1 20 377.483 - - 2 1 1 ENSG00000214531|ENST00000398522|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000214531|ENST00000398522|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 4 6 5 37 22 37 22 7 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689203382 10 5211697 GA G 629 PASS AKR1CL1 ENST00000380510 r.? - - Del intronic D 5211697 5211700 1 42 584.5 - - 2 1 1 AKR1CL1|ENST00000380510|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AKR1CL1|ENST00000380510|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 6 5 9 25 29 25 29 5 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689204272 10 7361614 CAG C 360 PASS SFMBT2 CCDS31138.1 r.? - - Del intronic D 7361614 7361632 2 16 319.858 - - 8 1 1 SFMBT2|CCDS31138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFMBT2|CCDS31138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 3 4 3 28 20 28 20 4 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689209392 10 24159218 ATC A 600 PASS KIAA1217 CCDS41496.1 r.? - - Del intronic D 24159218 24159224 2 36 538.315 - - 2 1 1 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 5 5 8 6 26 33 26 33 8 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689210702 10 27832819 T TAA 300 PASS RAB18 CCDS7155.1 r.? - - Ins downstream I 27832819 27832821 2 10 264.04 - - 1 1 1 RAB18|CCDS7155.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 RAB18|CCDS7155.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 4 7 4 0 0 ./. 4 1 4 1 18 24 18 24 4 1 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689211527 10 29980502 TAATA T 569 PASS SVIL CCDS7164.1 r.? - - Del intronic D 29980502 29980512 4 32 540.121 - - 2 1 1 SVIL|CCDS7164.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SVIL|CCDS7164.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 7 3 8 6 24 25 24 25 8 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689213902 10 38324794 C CT 660 PASS ZNF33A CCDS44372.1 r.? - - Ins intronic I 38324794 38324801 1 40 585.102 - - 6 1 1 ZNF33A|CCDS44372.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF33A|CCDS44372.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 7 4 10 4 29 20 30 20 10 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689222126 10 66094794 GTGTAAGGGGGGA G 290 PASS - - - - - Del - D 66094794 66094808 12 32 538.917 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 7 3 7 3 21 28 21 28 7 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689223689 10 70767737 T TAG 540 PASS KIAA1279 CCDS7284.1 r.? - - Ins intronic I 70767737 70767741 2 24 475.272 - - 1 1 1 KIAA1279|CCDS7284.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA1279|CCDS7284.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 2 12 2 12 0 0 ./. 2 7 5 9 13 31 14 33 5 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689223722 10 70858390 T TA 480 PASS SRGN CCDS7285.1 r.? - - Ins intronic I 70858390 70858398 1 25 426.678 - - 7 1 1 SRGN|CCDS7285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SRGN|CCDS7285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 4 6 6 30 31 30 31 6 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689223836 10 71100628 CTT C 300 PASS HK1 CCDS7290.1 r.? - - Del intronic D 71100628 71100632 2 12 270.06 - - 3 1 1 HK1|CCDS7290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HK1|CCDS7290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 5 5 18 15 18 15 5 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689224289 10 72694089 TG T 389 PASS - - - - - Del - D 72694089 72694092 1 20 378.085 - - 2 1 1 - - ./. 0 0 0 0 4 14 4 14 0 0 ./. 3 4 4 5 16 21 16 21 4 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689225740 10 78145853 AT A 360 PASS C10orf11 CCDS7351.1 r.? - - Del intronic D 78145853 78145858 1 12 324.073 - - 4 1 1 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 5 1 6 2 33 21 33 21 6 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689228604 10 88209087 ATG A 360 PASS WAPAL CCDS7375.1 r.? - - Del intronic D 88209087 88209092 2 16 324.073 - - 2 1 1 WAPAL|CCDS7375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WAPAL|CCDS7375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 3 3 6 19 31 19 31 3 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689235627 10 111993338 TC T 720 PASS MXI1 CCDS7563.1 r.? - - Del intronic D 111993338 111993342 1 48 646.941 - - 3 1 1 MXI1|CCDS7563.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MXI1|CCDS7563.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 7 7 9 35 29 35 29 7 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689236909 10 116284283 G GA 360 PASS ABLIM1 CCDS31288.1 r.? - - Ins intronic I 116284283 116284293 1 15 318.052 - - 9 1 1 ABLIM1|CCDS31288.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABLIM1|CCDS31288.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 4 2 4 29 29 29 29 2 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689237318 10 117680122 T TA 480 PASS ATRNL1 CCDS7592.1 r.? - - Ins intronic I 117680122 117680125 1 24 424.872 - - 2 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 13 0 0 ./. 3 5 5 7 27 31 29 32 5 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689245752 11 9086088 GGA G 418 PASS SCUBE2 CCDS7797.1 r.? - - Del intronic D 9086088 9086092 2 24 420.582 - - 1 1 1 SCUBE2|CCDS7797.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCUBE2|CCDS7797.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 3 5 4 32 17 32 17 5 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689251430 11 26634735 ATTTG A 540 PASS ANO3 CCDS31447.1 r.? - - Del intronic D 26634735 26634743 4 28 486.701 - - 1 1 1 ANO3|CCDS31447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO3|CCDS31447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 6 3 8 6 23 34 23 34 8 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689254827 11 38318401 AAG A 300 PASS - - - - - Del - D 38318401 38318418 2 12 270.389 - - 8 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 3 2 4 24 37 24 37 2 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689255008 11 38788441 C CT 300 PASS - - - - - Ins - I 38788441 38788451 1 12 264.369 - - 9 1 1 - - ./. 0 0 0 0 14 10 15 10 0 0 ./. 3 2 4 2 22 44 23 44 4 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689257178 11 46017969 TCA T 600 PASS PHF21A CCDS44578.1 r.? - - Del intronic D 46017969 46017973 2 36 540.779 - - 1 1 1 PHF21A|CCDS44578.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHF21A|CCDS44578.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 5 5 6 7 23 27 23 27 6 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689258556 11 50033203 CA C 420 PASS - - - - - Del - D 50033203 50033209 1 20 371.321 - - 5 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 4 7 4 21 23 21 23 7 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689259295 11 56031948 AC A 780 PASS - - - - - Del - D 56031948 56031950 1 56 703.013 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 7 6 7 10 36 41 36 41 7 10 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689261807 11 65192669 AACAG A 478 PASS - - - - - Del - D 65192669 65192677 4 30 486.701 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 4 5 6 39 29 39 29 5 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689262754 11 67652297 GT G 286 PASS AP003716.3 ENST00000511677 r.? - - Del upstream D 67652297 67652305 1 18 376.739 - - 7 1 1 AP003716.3|ENST00000511677|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 AP003716.3|ENST00000511677|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 2 6 5 37 33 37 33 6 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689263269 11 68837506 TG T 540 PASS TPCN2 CCDS8189.1 r.? - - Del intronic D 68837506 68837508 1 10 474.058 - - 1 1 1 TPCN2|CCDS8189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TPCN2|CCDS8189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 12 5 12 0 0 ./. 9 0 22 0 108 69 108 69 22 0 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689263448 11 69335161 AAG A 569 PASS - - - - - Del - D 69335161 69335180 2 35 534.758 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 6 5 7 71 71 71 71 5 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689266001 11 75424948 TTC T 420 PASS MOGAT2 CCDS8240.1 r.? - - Del upstream D 75424948 75424966 2 20 378.545 - - 8 1 1 MOGAT2|CCDS8240.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 MOGAT2|CCDS8240.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 4 4 5 61 71 61 71 4 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689266208 11 75867636 CA C 356 PASS - - - - - Del - D 75867636 75867643 1 25 432.021 - - 6 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 4 9 5 61 63 61 63 9 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689267981 11 79433068 GCTCATCAGGGCCTGATCCCAGCTTCCTTTCCATCCCAACTTGGTGTCTCCACCCAGATATACTTATTCATTTGCATCTCTAGAAATTCACACATTTGCCATCACCCATAGGCCTGTGAGTATGAGGATCTCTCTGCCTAGAAAAACATGCCTCCCCTGTTCTTACAAAAATCTCTTGCCTGCCTGACTTCGTTCATGCTCAGGATTCACGCAGTTATCGTCTCCTCTAGAAAGCTCCTTTGGCAACCAAAGGCTCACTCAGGTGCACACCCACCAGCCTCTTGCAGCATCTAATTTCTAATTTTACCTAGCATTTAGAAGTTTAGGTTGTGACAGTTTACTAAATGGTGTCAGGTTACTGTTTGATATTTTTATATATCTTATTTGTTTTAATTTTCAGTAACTAGTAGAGTTCCTGACTTATAGTAAGTGCTCAATAAATGTCTGATGCATTACTATATGGACTGAATGAATCAGCATAAGACAGGACAAGTGAATAATTTAGTCATGATCAAGCATTTTTATGCCAGGGACCTAGCTAAATTCATTACAAATAATTGCTCTGCATTTTTTGGCCCAGAGTCTGTCTTCTTGTGATGTAAACTGCTTTTCTTAATTCTCTAAACCCATTCCATTCTCAAGATTGTTTATTCTTCAGTCTTCTAGCTTGAGTTTCTGGTGTTTAATTATCAAAAATTATTTTGCTAGATAAGACCTGTTTGAGCTGACTTTCTTGAACTTGACTCTTAACTCATGTTAGAAGTCTGCCATAAACAACTGGAAAAGAAACCATGAAAGTAATCCCATTTACAATAGCTAGAAATAAAATAAAGTACCTAGAAATAAACTTTTAAAAAGTGAAACATTTCAATAATAAATACTACAACACATTGATAAAAGAAATTGAAGAGGATACAAAACATGAAAAGATATTCCACATTCATGGATTTGGAGAATCAATATTGTAAAAATGCTTATACTACCCAAAGCAATCTACAGATTCAGTACAATCCCTATAAAAATATTAATTACATTCTTCACAGAAATAGGAAAAAAAAATCCTAAGATTTATATAAAACCAATAAAGGGCCAGAATGGCCAAAGAAATGCTGAGCAAAAAGAATGCTGGAGGCACCACACTACCTGATTTCAAAATAAATTACAAGGTATGTAATCAAACCAGCATGGTATTAGCATAAAAATGAATACATGTATACCGATGAAACAGAAGACAGAACCCAGAAAGAAATCTACTCATTTAAAGTCAACTCTTTTTGACAAAGGTGTCAAGAATGTGCATTGAAGAAAGGACAGTCTCTTCAATAAATGGTGCTAGGAAAACTGGATATCCATACAGAGAAGAAAAAAACTAGACCTCTATCAGAAAACAGCCTAAAAAGGCAAATCTAAGATTTATTGGTCTTAAAGAAGAGGCAGAGAAAGAGACAGGGGTAGAAAGTTTA G 1218 PASS - - - - - Del - D 79433068 79434535 1462 459 2270.07 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 16 26 0 0 31 24 47 50 16 26 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689268942 11 82130975 TC T 960 PASS - - - - - Del - D 82130975 82130978 1 81 865.246 - - 2 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 8 8 9 11 39 49 39 49 9 11 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689282106 11 133275331 GT G 300 PASS ENSG00000183715 CCDS31722.1 r.? - - Del intronic D 133275331 133275337 1 12 268.583 - - 5 1 1 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 2 5 3 29 24 29 24 5 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689288386 12 16062668 ATAG A 865 PASS DERA CCDS44838.1 r.? - - Del upstream D 16062668 16062676 3 90 918.558 - - 2 1 1 DERA|CCDS44838.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 DERA|CCDS44838.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 12 13 12 0 0 ./. 8 9 15 13 33 35 33 35 15 13 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689288555 12 16508954 CAG C 300 PASS MGST1 CCDS8677.1 r.? - - Del intronic D 16508954 16508972 2 10 268.96 - - 8 1 1 MGST1|CCDS8677.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MGST1|CCDS8677.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 1 4 1 5 27 36 27 36 1 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689290540 12 21770910 G GA 449 PASS - - - - - Ins - I 21770910 21770918 1 25 426.844 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 4 5 4 46 34 46 34 5 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689291945 12 25589033 GT G 1049 PASS - - - - - Del - D 25589033 25589039 1 96 971.989 - - 5 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 11 7 23 9 49 31 49 31 23 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689296375 12 41602681 G GA 420 PASS PDZRN4 ENST00000402685 r.? - - Ins intronic I 41602681 41602690 1 20 374.015 - - 8 1 1 PDZRN4|ENST00000402685|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDZRN4|ENST00000402685|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 16 0 0 ./. 3 4 6 7 54 43 54 43 6 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689297087 12 43682162 C CGT 300 PASS - - - - - Ins - I 43682162 43682182 2 10 263.541 - - 9 1 - - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 1 6 2 46 35 46 35 6 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689298182 12 47737826 CA C 360 PASS - - - - - Del - D 47737826 47737836 1 16 324.197 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 3 4 3 32 41 32 41 4 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689302147 12 60247508 T TC 456 PASS - - - - - Ins - I 60247508 60247512 1 24 425.64 - - 3 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 5 3 5 4 47 15 48 15 5 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689302624 12 61781190 A AT 480 PASS - - - - - Ins - I 61781190 61781199 1 16 425.038 - - 8 1 1 - - ./. 0 0 0 0 26 11 26 11 0 0 ./. 7 1 8 2 41 41 41 41 8 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689307748 12 77481760 AC A 420 PASS - - - - - Del - D 77481760 77481764 1 18 378.23 - - 3 1 1 - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 5 2 8 4 29 26 29 26 8 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689308445 12 79931730 TCA T 478 PASS - - - - - Del - D 79931730 79931734 2 28 486.295 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 3 9 5 34 38 34 38 9 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689314314 12 97574478 TC T 420 PASS - - - - - Del - D 97574478 97574480 1 8 372.209 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 7 0 12 0 38 42 38 42 12 0 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689316225 12 103926315 G GA 300 PASS - - - - - Ins - I 103926315 103926325 1 12 262.939 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 3 2 39 49 39 49 3 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689317624 12 107930316 AG A 300 PASS BTBD11 CCDS31893.1 r.? - - Del intronic D 107930316 107930318 1 12 270.164 - - 1 1 1 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 3 2 3 33 39 33 39 2 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689318570 12 110998212 AT A 360 PASS PPTC7 CCDS9149.1 r.? - - Del intronic D 110998212 110998214 1 12 315.166 - - 1 1 1 PPTC7|CCDS9149.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPTC7|CCDS9149.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 1 5 2 7 36 33 36 33 2 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689319789 12 115816354 CTTAATTTTGTTTTTACATAAATGCAATTGT C 464 PASS - - - - - Del - D 115816354 115816386 30 80 864.525 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 9 7 8 8 23 35 24 35 9 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689328643 13 24569335 CA C 600 PASS - - - - - Del - D 24569335 24569344 1 32 541.645 - - 8 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 3 7 4 10 20 18 20 18 4 10 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689344909 13 82842769 G GT 540 PASS - - - - - Ins - I 82842769 82842778 1 28 483.146 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 6 4 7 19 26 19 26 4 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689346190 13 87647902 AT A 420 PASS - - - - - Del - D 87647902 87647904 1 18 379.392 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 2 7 8 28 20 28 20 7 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689349458 13 99105473 AAGAG A 300 PASS FARP1 CCDS9487.1 r.? - - Del downstream D 99105473 99105487 4 10 271.425 - - 6 1 1 FARP1|CCDS9487.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 STK24|CCDS32001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 1 6 2 20 16 20 16 6 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689357544 14 29854666 C CA 540 PASS - - - - - Ins - I 29854666 29854676 1 28 482.064 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 3 6 4 33 30 34 30 6 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689358540 14 32914966 G GT 300 PASS AKAP6 CCDS9644.1 r.? - - Ins intronic I 32914966 32914976 1 12 268.148 - - 9 1 1 AKAP6|CCDS9644.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AKAP6|CCDS9644.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 2 3 2 30 42 30 42 3 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689362885 14 46359560 AAG A 360 PASS - - - - - Del - D 46359560 46359576 2 15 325.389 - - 7 1 - - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 2 4 2 39 45 39 45 4 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689363052 14 46878374 TC T 660 PASS - - - - - Del - D 46878374 46878376 1 36 596.547 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 8 3 8 5 39 20 39 20 8 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689363611 14 48547933 GT G 1140 PASS - - - - - Del - D 48547933 48547936 1 110 1029.8 - - 2 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 10 9 15 16 31 35 31 35 15 16 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689369390 14 65885343 GAGAT G 509 PASS FUT8 CCDS9775.1 r.? - - Del intronic D 65885343 65885351 4 28 486.278 - - 1 1 1 FUT8|CCDS9775.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FUT8|CCDS9775.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 6 3 6 5 22 23 22 23 6 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689373747 14 79414439 CA C 900 PASS NRXN3 CCDS9870.1 r.? - - Del intronic D 79414439 79414443 1 70 813.474 - - 3 1 1 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 9 6 11 8 22 28 22 28 11 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689374460 14 82020762 A AG 360 PASS - - - - - Ins - I 82020762 82020771 1 16 304.919 - - 8 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 3 8 7 38 32 38 32 8 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689381270 14 103712417 GATGTCTTCGTC G 319 PASS - - - - - Del - D 103712417 103712429 11 40 589.323 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 7 7 12 28 22 28 22 7 12 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689384134 15 22817689 C CA 300 PASS - - - - - Ins - I 22817689 22817697 1 12 268.548 - - 7 1 1 - - ./. 0 0 0 0 18 12 19 12 0 0 ./. 2 3 3 3 21 32 21 32 3 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689386057 15 29209711 AT A 463 PASS APBA2 CCDS10022.1 r.? - - Del upstream D 29209711 29209721 1 28 488.805 - - 9 1 1 APBA2|CCDS10022.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 APBA2|CCDS10022.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 4 12 4 0 0 ./. 6 3 8 5 22 20 22 20 8 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689386904 15 32335511 T TA 298 PASS CHRNA7 CCDS10027.1 r.? - - Ins intronic I 32335511 32335519 1 15 321.053 - - 7 1 1 CHRNA7|CCDS10027.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHRNA7|CCDS10027.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 9 0 0 ./. 4 2 7 7 23 33 23 33 7 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689402618 15 85835212 CCT C 277 PASS - - - - - Del - D 85835212 85835231 2 12 270.956 - - 9 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 2 3 2 2 27 30 27 30 2 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689408200 16 1715408 TTG T 720 PASS CRAMP1L CCDS10440.2 r.? - - Del intronic D 1715408 1715414 2 45 646.55 - - 2 1 1 CRAMP1L|CCDS10440.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRAMP1L|CCDS10440.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 8 5 10 19 30 19 30 5 10 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689411351 16 11003556 TC T 540 PASS CIITA CCDS10544.1 r.? - - Del intronic D 11003556 11003559 1 28 485.364 - - 2 1 1 CIITA|CCDS10544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CIITA|CCDS10544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 20 6 20 0 0 ./. 3 6 3 7 15 25 15 25 3 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689412096 16 12958256 G GA 600 PASS - - - - - Ins - I 12958256 12958259 1 32 536.685 - - 2 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 7 4 7 17 23 18 23 4 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689417127 16 31658166 A AT 387 PASS - - - - - Ins - I 31658166 31658175 1 21 427.421 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 6 5 10 18 34 18 35 5 10 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689418440 16 33534938 CTCA CCG 269 PASS - - - - - Complex - DI 33534939 33534941 3 28 0 - - 0 1 1 - - ./. 0 0 0 0 29 14 29 14 0 0 ./. 6 3 0 0 72 53 72 53 6 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689419387 16 34358560 GA G 720 PASS - - - - - Del - D 34358560 34358565 1 49 651.367 - - 4 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 6 8 11 25 34 25 34 8 11 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689420615 16 50105691 CAT C 1020 PASS HEATR3 CCDS10739.1 r.? - - Del intronic D 50105691 50105694 2 88 923.622 - - 1 1 1 HEATR3|CCDS10739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HEATR3|CCDS10739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 7 10 8 13 16 17 16 17 8 13 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689423346 16 61243874 A AT 660 PASS - - - - - Ins - I 61243874 61243883 1 42 591.015 - - 8 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 5 6 7 7 23 29 23 29 7 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689426985 16 76429130 A AT 629 PASS CNTNAP4 ENST00000307431 r.? - - Ins intronic I 76429130 76429139 1 42 589.209 - - 8 1 1 CNTNAP4|ENST00000307431|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP4|ENST00000307431|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 15 16 0 0 ./. 5 6 7 7 21 22 21 22 7 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689447188 17 56493763 AATTAG A 420 PASS RNF43 CCDS11607.1 r.? - - Del intronic D 56493763 56493770 5 20 377.142 - - 1 1 1 RNF43|CCDS11607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RNF43|CCDS11607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 4 5 5 23 24 23 24 5 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689448330 17 60612763 AT A 480 PASS TLK2 CCDS11633.1 r.? - - Del intronic D 60612763 60612768 1 24 434.46 - - 4 1 1 TLK2|CCDS11633.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TLK2|CCDS11633.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 5 7 10 24 29 24 29 7 10 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689456705 18 5090251 GC G 720 PASS - - - - - Del - D 5090251 5090253 1 48 651.921 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 7 7 10 14 18 14 18 7 10 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689462913 18 31924322 AG A 540 PASS - - - - - Del - D 31924322 31924325 1 24 486.382 - - 2 1 1 - - ./. 0 0 0 0 9 23 9 23 0 0 ./. 2 7 3 10 9 28 9 28 3 10 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689477944 19 7274136 CG C 660 PASS INSR CCDS12176.1 r.? - - Del intronic D 7274136 7274138 1 36 597.268 - - 1 1 1 INSR|CCDS12176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INSR|CCDS12176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 8 7 12 26 28 26 28 7 12 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689479361 19 10764865 GC G 420 PASS ILF3 CCDS45965.1 r.? - - Del upstream D 10764865 10764874 1 18 379.642 - - 8 1 1 ILF3|CCDS45965.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ILF3|CCDS45965.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 5 2 5 19 15 19 15 2 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689487146 19 39185486 G GC 360 PASS ACTN4 CCDS12518.1 r.? - - Ins intronic I 39185486 39185493 1 7 316.806 - - 6 1 1 ACTN4|CCDS12518.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACTN4|CCDS12518.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 6 0 9 0 35 8 35 8 9 0 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689488155 19 43438139 T TA 506 PASS PSG1 ENST00000449000 r.? - - Ins intronic I 43438139 43438143 1 30 483.638 - - 3 1 1 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 5 5 5 22 34 22 34 5 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689490289 19 50790201 CCT C 351 PASS MYH14 CCDS46151.1 r.? - - Del intronic D 50790201 50790204 2 20 380.846 - - 1 1 1 MYH14|CCDS46151.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYH14|CCDS46151.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 4 5 5 26 21 26 21 5 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689493118 2 868697 AT A 420 PASS - - - - - Del - D 868697 868706 1 20 375.743 - - 8 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 4 3 7 5 26 20 26 20 7 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689494446 2 5534814 CG C 480 PASS - - - - - Del - D 5534814 5534821 1 9 427.787 - - 6 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 0 8 3 8 14 25 14 25 3 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689503975 2 37306447 G GT 778 PASS HEATR5B CCDS33181.1 r.249_250insa c.153_154insA p.L52fs*3 Ins frameshift I 37306447 37306454 1 64 739.445 - - 6 1 1 HEATR5B|CCDS33181.1|r.249_250insa|c.153_154insA|p.L52fs*3|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 HEATR5B|CCDS33181.1|r.249_250insa|c.153_154insA|p.L52fs*3|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 7 8 10 20 35 20 35 8 10 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689506296 2 45071197 A AG 300 PASS - - - - - Ins - I 45071197 45071207 1 12 266.238 - - 9 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 3 2 5 3 21 21 21 22 5 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689509513 2 56289755 AT A 517 PASS - - - - - Del - D 56289755 56289765 1 30 482.238 - - 9 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 5 4 5 4 23 27 23 27 5 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689524078 2 113630932 A AT 300 PASS - - - - - Ins - I 113630932 113630941 1 10 264.432 - - 8 1 1 - - ./. 0 0 0 0 22 13 23 13 0 0 ./. 4 1 7 3 40 22 41 22 7 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689527300 2 125509975 CA C 840 PASS CNTNAP5 CCDS46401.1 r.? - - Del intronic D 125509975 125509978 1 60 753.292 - - 2 1 1 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 19 8 19 0 0 ./. 9 5 11 6 27 18 27 18 11 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689527368 2 125795834 TG T 720 PASS - - - - - Del - D 125795834 125795838 1 49 646.195 - - 3 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 6 6 7 7 31 16 31 16 7 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689529942 2 133404526 C CA 480 PASS GPR39 CCDS2170.1 r.? - - Ins downstream I 133404526 133404535 1 24 425.378 - - 8 1 1 GPR39|CCDS2170.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 LYPD1|CCDS42759.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 3 9 5 28 25 28 26 9 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689535662 2 153211379 CG C 1020 PASS FMNL2 CCDS46429.1 r.? - - Del intronic D 153211379 153211382 1 88 911.229 - - 2 1 1 FMNL2|CCDS46429.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FMNL2|CCDS46429.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 10 7 10 28 37 28 37 7 10 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689536205 2 154922904 CA C 480 PASS GALNT13 CCDS2199.1 r.? - - Del intronic D 154922904 154922907 1 24 427.184 - - 2 1 1 GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 5 9 9 42 36 42 36 9 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689537103 2 158466213 TATA T 478 PASS ACVR1C CCDS2205.1 r.? - - Del intronic D 158466213 158466221 3 30 484.044 - - 2 1 1 ACVR1C|CCDS2205.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACVR1C|CCDS2205.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 4 11 5 35 27 35 27 11 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689537396 2 159468627 GCA G 269 PASS PKP4 CCDS33306.1 r.? - - Del intronic D 159468627 159468646 2 6 263.829 - - 9 1 - PKP4|CCDS33306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKP4|CCDS33306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 0 5 0 31 30 31 30 5 0 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689537579 2 159990445 ATTGGATTATTT A 377 PASS TANC1 CCDS42766.1 r.? - - Del intronic D 159990445 159990459 11 50 700.045 - - 1 1 1 TANC1|CCDS42766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TANC1|CCDS42766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 9 4 9 4 25 32 25 32 9 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689540011 2 169187194 AAGGAATCCCCATCAGACTTAACAGTGGATTTCTCAGCAGAAACTGTACAG AAAG 319 PASS - - - - - Complex - DI 169187195 169187244 50 30 0 - - 0 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 9 2 0 0 32 11 38 12 9 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689541964 2 174852626 GAAACA G 567 PASS - - - - - Del - D 174852626 174852639 5 36 592.346 - - 2 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 3 8 4 9 17 33 17 33 4 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689547156 2 192989409 AAC A 1020 PASS TMEFF2 CCDS2314.1 r.? - - Del intronic D 192989409 192989415 2 78 915.443 - - 2 1 1 TMEFF2|CCDS2314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEFF2|CCDS2314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 10 20 10 0 0 ./. 12 5 13 7 33 32 33 32 13 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689551073 2 206380282 C CGCATTGTGGTTTTGATTTGCATTTCTCTAATTATCA 290 PASS PARD3B CCDS42806.1 r.? - - Ins intronic I 206380282 206380285 36 35 321.754 - - 0 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 6 0 0 18 30 23 36 4 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689553662 2 215098794 TG T 540 PASS SPAG16 CCDS2396.1 r.? - - Del intronic D 215098794 215098796 1 30 476.218 - - 1 1 1 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 4 6 7 24 23 24 23 6 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689560535 2 238071967 AC A 360 PASS - - - - - Del - D 238071967 238071969 1 12 323.098 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 1 5 3 7 28 29 28 29 3 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689560553 2 238175410 GAGTC G 360 PASS - - - - - Del - D 238175410 238175416 4 15 323.098 - - 1 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 2 5 3 34 30 34 30 5 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689561036 2 240087178 C CTG 720 PASS HDAC4 CCDS2529.1 r.? - - Ins intronic I 240087178 240087196 2 48 625.123 - - 8 1 1 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 7 10 7 30 28 30 28 10 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689565201 20 11307841 TTTTG T 420 PASS - - - - - Del - D 11307841 11307857 4 18 379.533 - - 3 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 2 5 2 6 32 29 32 29 2 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689568073 20 21292474 C CA 263 PASS XRN2 CCDS13144.1 r.? - - Ins intronic I 21292474 21292484 1 12 268.514 - - 9 1 1 XRN2|CCDS13144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XRN2|CCDS13144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 13 0 0 ./. 3 2 6 3 25 15 25 16 6 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689571434 20 30888245 A AT 418 PASS KIF3B CCDS13200.1 r.? - - Ins intronic I 30888245 30888252 1 21 425.409 - - 6 1 1 KIF3B|CCDS13200.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KIF3B|CCDS13200.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 6 2 6 32 33 32 33 2 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689574231 20 39000134 T TC 660 PASS - - - - - Ins - I 39000134 39000141 1 36 590.732 - - 6 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 8 3 11 4 27 25 27 25 11 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689577672 20 49149857 TTTC T 687 PASS PTPN1 CCDS13430.1 r.? - - Del intronic D 49149857 49149863 3 54 705.362 - - 1 1 1 PTPN1|CCDS13430.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN1|CCDS13430.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 8 9 11 66 96 66 96 9 11 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689577700 20 49208826 T TA 780 PASS FAM65C CCDS13431.2 r.? - - Ins intronic I 49208826 49208828 1 54 698.138 - - 1 1 1 FAM65C|CCDS13431.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM65C|CCDS13431.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 8 5 11 11 80 74 81 74 11 11 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689577713 20 49237670 AAG A 269 PASS FAM65C CCDS13431.2 r.? - - Del intronic D 49237670 49237674 2 6 262.494 - - 1 1 1 FAM65C|CCDS13431.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM65C|CCDS13431.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 0 10 0 75 55 75 55 10 0 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689578943 20 50907952 TGC T 360 PASS - - - - - Del - D 50907952 50907959 2 15 324.626 - - 3 1 - - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 2 8 4 115 106 115 106 8 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689579256 20 51308607 TTG T 329 PASS - - - - - Del - D 51308607 51308611 2 7 301.747 - - 1 1 - - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 6 0 14 0 140 162 140 162 14 0 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689579552 20 51803440 AAT A 420 PASS TSHZ2 CCDS33490.1 r.? - - Del intronic D 51803440 51803459 2 18 379.533 - - 9 1 1 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 5 2 6 4 114 100 114 100 6 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689579601 20 51864619 TG T 749 PASS TSHZ2 CCDS33490.1 r.? - - Del intronic D 51864619 51864621 1 44 704.76 - - 1 1 1 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 10 3 14 8 165 122 165 122 14 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689580710 20 53427386 G GGT 445 PASS - - - - - Ins - I 53427386 53427387 2 27 528.6 - - 0 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 8 0 0 16 47 16 48 2 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689581288 20 54432779 CT C 360 PASS - - - - - Del - D 54432779 54432781 1 15 325.83 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 4 3 6 38 49 38 49 3 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689581779 20 55469768 TTC T 300 PASS - - - - - Del - D 55469768 55469784 2 12 271.525 - - 7 1 - - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 3 2 3 3 24 36 24 36 3 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689597599 21 43379952 A AT 509 PASS - - - - - Ins - I 43379952 43379959 1 18 484.524 - - 6 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 1 8 4 9 16 31 16 31 4 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689605471 22 38049265 GTC G 480 PASS SH3BP1 CCDS13952.2 r.? - - Del intronic D 38049265 38049271 2 24 435.349 - - 2 1 1 SH3BP1|CCDS13952.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3BP1|CCDS13952.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 5 5 8 20 32 20 32 5 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689609023 22 50267482 TGCACGGCCCACCTTGTAGGTTGGAG TGACCCACCTTGTAGGTTGGAGG 261 PASS ZBED4 CCDS33677.1 r.? - - Complex intronic DI 50267483 50267507 25 30 0 - - 0 1 1 ZBED4|CCDS33677.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ZBED4|CCDS33677.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 5 0 0 18 18 18 19 4 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689609596 3 1005193 GCTTGCACTCC G 319 PASS - - - - - Del - D 1005193 1005205 10 42 593.3 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 6 5 5 37 31 37 32 5 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689610686 3 4313671 ATC A 480 PASS - - - - - Del - D 4313671 4313677 2 25 431.491 - - 2 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 4 6 4 34 22 34 22 6 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689614886 3 18726777 GAACT G 569 PASS - - - - - Del - D 18726777 18726784 4 32 539.363 - - 1 1 1 - - ./. 0 0 0 0 14 5 14 5 0 0 ./. 3 7 3 8 34 32 34 32 3 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689614997 3 19263057 G GT 300 PASS KCNH8 CCDS2632.1 r.? - - Ins intronic I 19263057 19263067 1 10 260.651 - - 9 1 1 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 4 1 4 30 48 30 48 1 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689617277 3 27574873 GA G 420 PASS - - - - - Del - D 27574873 27574880 1 14 372.136 - - 6 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 6 4 8 25 20 25 20 4 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689621657 3 43841793 AT A 420 PASS - - - - - Del - D 43841793 43841803 1 20 377.554 - - 9 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 3 4 3 4 23 27 23 27 3 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689623791 3 52770230 C CG 420 PASS NEK4 CCDS2863.1 r.? - - Ins intronic I 52770230 52770238 1 20 369.125 - - 7 1 1 NEK4|CCDS2863.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NEK4|CCDS2863.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 4 8 5 24 28 24 28 8 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689629249 3 71413541 A AC 840 PASS FOXP1 CCDS2914.1 r.? - - Ins intronic I 71413541 71413544 1 60 745.476 - - 2 1 1 FOXP1|CCDS2914.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FOXP1|CCDS2914.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 10 11 0 0 ./. 9 5 12 7 24 17 24 17 12 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689630085 3 74187342 AAAAT AATT 838 PASS - - - - - Complex - DI 74187343 74187346 4 70 0 - - 0 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 6 9 0 0 29 33 29 33 6 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689633177 3 81877772 AG A 360 PASS - - - - - Del - D 81877772 81877774 1 12 323.618 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 5 2 6 23 30 23 30 2 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689636763 3 98125855 GA G 300 PASS - - - - - Del - D 98125855 98125857 1 10 267.273 - - 1 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 1 4 1 5 20 22 20 22 1 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689637757 3 101577871 T TA 480 PASS NFKBIZ CCDS2946.1 r.? - - Ins intronic I 101577871 101577873 1 25 426.674 - - 1 1 1 NFKBIZ|CCDS2946.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NFKBIZ|CCDS2946.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 4 6 8 24 29 24 30 6 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689640470 3 110193849 TA T 749 PASS - - - - - Del - D 110193849 110193859 1 54 694.55 - - 9 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 8 5 10 5 32 34 32 34 10 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689650367 3 145552118 GTGA G 259 PASS - - - - - Del - D 145552118 145552128 3 36 539.363 - - 3 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 5 2 7 26 34 30 34 6 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689650752 3 146895166 TTA T 360 PASS - - - - - Del - D 146895166 146895170 2 15 322.414 - - 1 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 2 4 4 32 18 32 18 4 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689652208 3 151576713 TA T 420 PASS - - - - - Del - D 151576713 151576719 1 20 377.554 - - 5 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 4 6 4 20 14 20 14 6 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689655189 3 162250572 TA T 720 PASS - - - - - Del - D 162250572 162250576 1 48 646.032 - - 3 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 7 5 8 12 23 12 23 5 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689656707 3 167125400 C CA 540 PASS - - - - - Ins - I 167125400 167125407 1 30 479.406 - - 6 1 1 - - ./. 0 0 0 0 14 13 14 14 0 0 ./. 5 4 5 7 21 30 21 30 5 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689657821 3 171366900 C CT 840 PASS PLD1 CCDS46957.1 r.? - - Ins intronic I 171366900 171366910 1 48 744.272 - - 9 1 1 PLD1|CCDS46957.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLD1|CCDS46957.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 11 6 13 23 35 23 35 6 13 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689660115 3 178916937 TGAA T 569 PASS PIK3CA CCDS43171.1 r.482_484delGAA c.325_327delGAA p.E110delE Del inframe D 178916937 178916944 3 35 539.363 - - 2 1 1 PIK3CA|CCDS43171.1|r.482_484delGAA|c.325_327delGAA|p.E110delE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 PIK3CA|CCDS43171.1|r.482_484delGAA|c.325_327delGAA|p.E110delE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 4 7 5 18 27 18 27 7 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689660411 3 179937641 AAG A 420 PASS - - - - - Del - D 179937641 179937661 2 20 363.707 - - 9 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 4 3 8 39 35 39 35 3 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689664004 3 191832593 C CT 960 PASS - - - - - Ins - I 191832593 191832603 1 72 849.134 - - 9 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 5 11 8 15 31 51 32 51 8 15 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689667331 4 4217837 T TG 400 PASS OTOP1 CCDS3372.1 r.? - - Ins intronic I 4217837 4217838 1 28 739.511 - - 0 1 1 OTOP1|CCDS3372.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OTOP1|CCDS3372.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 1 13 0 0 25 40 25 40 1 13 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689670300 4 14596905 AG A 420 PASS - - - - - Del - D 14596905 14596908 1 20 377.281 - - 2 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 3 8 5 29 21 29 21 8 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689672448 4 22356646 C CA 749 PASS - - - - - Ins - I 22356646 22356654 1 56 692.839 - - 7 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 7 6 8 7 30 22 30 22 8 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689677591 4 38950495 C CA 540 PASS FAM114A1 CCDS3447.1 r.? - - Ins downstream I 38950495 38950502 1 24 477.851 - - 6 1 1 FAM114A1|CCDS3447.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 FAM114A1|CCDS3447.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 7 3 7 14 26 14 26 3 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689679132 4 43312705 AT A 780 PASS - - - - - Del - D 43312705 43312715 1 56 700.666 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 6 10 8 26 32 26 32 10 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689684562 4 61989234 A AT 420 PASS - - - - - Ins - I 61989234 61989241 1 18 373.067 - - 6 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 5 2 6 2 33 5 34 5 6 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689685071 4 63791395 AT A 689 PASS - - - - - Del - D 63791395 63791400 1 49 646.768 - - 4 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 6 9 6 26 23 26 23 9 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689685605 4 65393973 CA C 360 PASS - - - - - Del - D 65393973 65393977 1 15 321.578 - - 3 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 2 7 4 34 20 34 20 7 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689687616 4 71594431 CTG C 418 PASS RUFY3 CCDS3547.1 r.? - - Del intronic D 71594431 71594435 2 24 430.577 - - 1 1 1 RUFY3|CCDS3547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RUFY3|CCDS3547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 5 5 5 22 20 22 20 5 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689699957 4 114918037 G GT 540 PASS - - - - - Ins - I 114918037 114918044 1 28 479.658 - - 6 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 6 3 8 4 32 19 32 19 8 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689700791 4 117406984 AT A 960 PASS - - - - - Del - D 117406984 117406988 1 80 861.755 - - 3 1 1 - - ./. 0 0 0 0 20 11 20 11 0 0 ./. 9 7 14 8 34 36 34 36 14 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689702280 4 121989872 CAG C 300 PASS C4orf31 CCDS3717.2 r.? - - Del intronic D 121989872 121989891 2 10 268.885 - - 9 1 1 C4orf31|CCDS3717.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C4orf31|CCDS3717.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 1 4 1 4 18 36 18 36 1 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689710406 4 151032297 A AT 540 PASS DCLK2 CCDS34076.1 r.? - - Ins intronic I 151032297 151032307 1 28 476.647 - - 9 1 1 DCLK2|CCDS34076.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DCLK2|CCDS34076.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 6 3 9 6 32 24 32 24 9 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689711945 4 156100493 GT G 807 PASS - - - - - Del - D 156100493 156100495 1 70 807.858 - - 1 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 9 6 9 8 34 39 34 39 9 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689714315 4 162890960 T TA 540 PASS FSTL5 CCDS3802.1 r.? - - Ins intronic I 162890960 162890968 1 30 477.249 - - 7 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 4 5 6 8 26 33 26 33 6 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689715110 4 165223061 GA G 600 PASS MARCH1 CCDS45732.1 r.? - - Del intronic D 165223061 165223065 1 27 538.371 - - 3 1 1 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 8 2 9 3 24 14 24 14 9 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689716764 4 170621090 C CT 780 PASS CLCN3 CCDS34100.1 r.? - - Ins intronic I 170621090 170621098 1 54 689.226 - - 7 1 1 CLCN3|CCDS34100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLCN3|CCDS34100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 8 8 11 33 23 34 23 8 11 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689716933 4 171127962 TAC T 300 PASS - - - - - Del - D 171127962 171127980 2 12 269.487 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 2 3 13 29 13 29 2 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689719733 4 180077688 CA C 420 PASS - - - - - Del - D 180077688 180077695 1 18 377.281 - - 6 1 1 - - ./. 0 0 0 0 2 13 2 13 0 0 ./. 2 5 4 5 11 28 11 28 4 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689729934 5 14480126 GAGGTGGCGGGACAAACTCTGGTGTCAGGAGTGAGTTTGCTGAG GTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA 420 PASS TRIO CCDS3883.1 r.6360+7_6360+49del43insuggcgggacagacucuggugucaggagugaguuugcugaa c.6336+7_6336+49del43insTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA p.? Complex splice region DI 14480127 14480169 43 18 0 - - 0 1 1 TRIO|CCDS3883.1|r.6360+7_6360+49del43insuggcgggacagacucuggugucaggagugaguuugcugaa|c.6336+7_6336+49del43insTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:indel:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:1000032:SO:CGPX04:SO:0001627:SO:0001576 TRIO|CCDS3883.1|r.6360+7_6360+49del43insuggcgggacagacucuggugucaggagugaguuugcugaa|c.6336+7_6336+49del43insTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:indel:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:1000032:SO:CGPX04:SO:0001627:SO:0001576 ./. 0 0 0 0 6 4 6 4 0 0 ./. 5 2 0 0 29 17 34 19 5 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689733355 5 24008848 TC T 480 PASS - - - - - Del - D 24008848 24008850 1 21 431.365 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 6 2 6 4 39 27 39 27 6 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689739623 5 41375316 CA C 509 PASS PLCXD3 CCDS34150.1 r.? - - Del intronic D 41375316 41375321 1 28 484.683 - - 4 1 1 PLCXD3|CCDS34150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCXD3|CCDS34150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 3 8 4 47 24 47 24 8 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689740418 5 43880928 T TAGATG 418 PASS - - - - - Ins - I 43880928 43880936 5 24 407.282 - - 1 1 1 - - ./. 0 0 0 0 16 4 17 4 0 0 ./. 5 3 6 3 37 24 37 25 6 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689740649 5 44751345 TTCTA T 718 PASS - - - - - Del - D 44751345 44751353 4 50 696.151 - - 1 1 1 - - ./. 0 0 0 0 8 19 8 19 0 0 ./. 4 9 6 11 38 49 38 49 6 11 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689741356 5 50223117 A AAC 269 PASS - - - - - Ins - I 50223117 50223119 2 6 258.766 - - 0 1 - - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 0 1 0 42 27 46 28 5 0 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689742422 5 53341052 AAC A 360 PASS - - - - - Del - D 53341052 53341070 2 15 322.319 - - 8 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 2 4 3 5 38 28 38 28 3 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689744405 5 59183566 TTG T 360 PASS PDE4D CCDS47213.1 r.? - - Del intronic D 59183566 59183586 2 16 319.911 - - 9 1 - PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 3 3 4 3 37 39 37 39 4 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689745450 5 62930923 AT A 300 PASS - - - - - Del - D 62930923 62930931 1 10 268.399 - - 7 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 4 2 5 49 36 49 36 2 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689745532 5 63283927 GCT G 300 PASS - - - - - Del - D 63283927 63283946 2 12 269.001 - - 9 1 - - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 2 3 2 43 37 43 37 3 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689745737 5 64037827 TG T 300 PASS SFRS12IP1 CCDS34171.1 r.? - - Del intronic D 64037827 64037829 1 6 262.98 - - 1 1 1 SFRS12IP1|CCDS34171.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFRS12IP1|CCDS34171.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 0 8 0 42 31 42 31 8 0 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689746532 5 66296593 GT G 300 PASS MAST4 CCDS47225.1 r.? - - Del intronic D 66296593 66296595 1 6 263.582 - - 1 1 1 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 5 0 5 0 32 24 32 24 5 0 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689748530 5 73432823 TATTTTTTGAA T 348 PASS - - - - - Del - D 73432823 73432834 10 48 647.047 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 7 5 8 6 41 35 41 35 8 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689749710 5 77391138 TATGATGTGCCTCTTAGATA T 406 PASS AP3B1 CCDS4041.1 r.? - - Del intronic D 77391138 77391159 19 63 754.286 - - 1 1 1 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 6 8 5 5 34 33 35 36 6 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689751850 5 83794133 CAATT C 329 PASS - - - - - Del - D 83794133 83794141 4 12 323.524 - - 1 1 1 - - ./. 0 0 0 0 13 0 13 0 0 0 ./. 5 1 5 1 23 4 23 4 5 1 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689752367 5 84975783 T TA 300 PASS - - - - - Ins - I 84975783 84975791 1 10 266.593 - - 7 1 1 - - ./. 0 0 0 0 12 17 12 18 0 0 ./. 1 4 2 6 23 37 25 40 2 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689752760 5 86158276 T TATG 629 PASS - - - - - Ins - I 86158276 86158281 3 36 570.248 - - 1 1 1 - - ./. 0 0 0 0 15 13 16 13 0 0 ./. 3 8 3 9 32 51 32 52 3 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689754881 5 94720981 C CT 600 PASS - - - - - Ins - I 94720981 94720988 1 32 533.185 - - 6 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 7 7 13 41 47 41 47 7 13 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689758395 5 105468064 T TG 540 PASS - - - - - Ins - I 105468064 105468073 1 28 478.663 - - 8 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 6 6 11 25 28 26 28 6 11 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689765400 5 127392684 TA T 360 PASS - - - - - Del - D 127392684 127392691 1 12 322.922 - - 6 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 5 6 6 35 41 35 41 6 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689766390 5 131083810 TAGAG T 449 PASS FNIP1 CCDS34226.1 r.? - - Del intronic D 131083810 131083817 4 21 431.365 - - 3 1 1 FNIP1|CCDS34226.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FNIP1|CCDS34226.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 2 6 2 6 25 42 25 42 2 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689769540 5 142331728 C CT 420 PASS ARHGAP26 CCDS47297.1 r.? - - Ins intronic I 142331728 142331737 1 20 371.424 - - 8 1 1 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 4 8 6 36 35 38 36 8 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689771416 5 148740732 GAGGCCAAGGC G 319 PASS PCYOX1L CCDS4296.1 r.? - - Del intronic D 148740732 148740746 10 42 593.127 - - 1 1 1 PCYOX1L|CCDS4296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCYOX1L|CCDS4296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 5 6 5 27 30 27 30 6 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689775482 5 161952502 GC G 360 PASS - - - - - Del - D 161952502 161952506 1 15 322.922 - - 3 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 2 6 2 40 27 40 27 6 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689777454 5 167804646 AAAG A 1138 PASS WWC1 CCDS4366.1 r.? - - Del intronic D 167804646 167804654 3 117 1077.21 - - 2 1 1 WWC1|CCDS4366.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWC1|CCDS4366.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 8 12 14 17 33 41 33 41 14 17 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689786525 6 13877019 G GA 300 PASS - - - - - Ins - I 13877019 13877029 1 12 257.258 - - 9 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 2 6 2 39 31 41 31 6 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689787067 6 15628384 ATTA AAT 480 PASS DTNBP1 CCDS4535.1 r.? - - Complex intronic DI 15628385 15628387 3 24 0 - - 0 1 1 DTNBP1|CCDS4535.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 DTNBP1|CCDS4535.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 5 0 0 22 21 22 21 3 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689794779 6 37335659 AC A 420 PASS RNF8 CCDS4834.1 r.? - - Del intronic D 37335659 37335663 1 14 377.259 - - 3 1 1 RNF8|CCDS4834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF8|CCDS4834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 6 1 9 1 26 12 26 12 9 1 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689805037 6 72427742 A AT 480 PASS - - - - - Ins - I 72427742 72427750 1 16 427.025 - - 7 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 7 1 8 3 35 26 35 26 8 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689810706 6 92065212 TC T 720 PASS - - - - - Del - D 92065212 92065215 1 33 645.956 - - 2 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 10 2 11 3 39 26 39 26 11 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689811611 6 95175915 A AT 720 PASS - - - - - Ins - I 95175915 95175923 1 45 638.129 - - 7 1 1 - - ./. 0 0 0 0 16 17 16 18 0 0 ./. 8 4 8 5 39 28 39 28 8 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689812065 6 96898641 ACTT A 358 PASS - - - - - Del - D 96898641 96898648 3 20 377.861 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 4 4 4 16 27 16 27 4 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689812670 6 99240473 CT C 420 PASS - - - - - Del - D 99240473 99240479 1 8 377.861 - - 5 1 1 - - ./. 0 0 0 0 13 3 13 3 0 0 ./. 7 0 9 3 24 20 24 20 9 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689812957 6 100138774 CAG C 480 PASS - - - - - Del - D 100138774 100138780 2 25 430.035 - - 2 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 4 6 6 29 25 29 25 6 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689813120 6 100690228 A ATC 600 PASS - - - - - Ins - I 100690228 100690242 2 36 527.76 - - 6 1 1 - - ./. 0 0 0 0 14 14 15 14 0 0 ./. 5 5 5 6 34 30 34 30 5 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689814184 6 104109158 TTC T 300 PASS - - - - - Del - D 104109158 104109162 2 6 260.87 - - 1 1 - - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 0 6 0 15 21 15 21 6 0 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689815151 6 107131256 C CA 420 PASS - - - - - Ins - I 107131256 107131266 1 20 368.83 - - 9 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 3 4 5 7 29 21 29 21 5 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689818939 6 120658217 A AT 540 PASS - - - - - Ins - I 120658217 120658225 1 30 480.403 - - 7 1 1 - - ./. 0 0 0 0 7 23 7 23 0 0 ./. 4 5 4 5 25 31 25 32 4 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689825350 6 144371872 A AT 360 PASS PLAGL1 CCDS5202.1 r.? - - Ins intronic I 144371872 144371882 1 15 314.248 - - 9 1 1 PLAGL1|CCDS5202.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PLAGL1|CCDS5202.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 2 5 4 27 19 27 19 5 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689827397 6 151590156 GT G 420 PASS AKAP12 CCDS5229.1 r.? - - Del intronic D 151590156 151590159 1 20 377.259 - - 2 1 1 AKAP12|CCDS5229.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AKAP12|CCDS5229.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 4 4 4 24 28 24 28 4 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689830347 6 161141925 CT C 418 PASS PLG CCDS5279.1 r.? - - Del intronic D 161141925 161141935 1 25 431.841 - - 9 1 1 PLG|CCDS5279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLG|CCDS5279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 4 6 5 37 22 37 22 6 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689834489 7 4563599 AG A 269 PASS - - - - - Del - D 4563599 4563607 1 6 270.105 - - 7 1 1 - - ./. 0 0 0 0 10 2 10 2 0 0 ./. 5 0 9 1 21 9 21 9 9 1 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689836460 7 10284699 GT G 420 PASS - - - - - Del - D 10284699 10284708 1 20 377.545 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 4 5 5 25 30 25 30 5 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689838846 7 17851982 AAAG A 507 PASS SNX13 CCDS47551.1 r.? - - Del intronic D 17851982 17851990 3 36 539.607 - - 2 1 1 SNX13|CCDS47551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX13|CCDS47551.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 5 5 6 8 26 35 26 35 6 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689842424 7 29613073 GCT G 300 PASS - - - - - Del - D 29613073 29613089 2 12 268.901 - - 7 1 - - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 2 4 27 33 27 33 2 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689847778 7 48572575 A AT 720 PASS ABCA13 CCDS47584.1 r.? - - Ins intronic I 48572575 48572584 1 48 639.823 - - 8 1 1 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 7 10 8 28 35 28 35 10 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689848035 7 49455170 A AT 300 PASS - - - - - Ins - I 49455170 49455179 1 10 267.094 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 13 0 0 ./. 4 1 10 3 36 32 38 32 10 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689848911 7 52393630 AT A 600 PASS - - - - - Del - D 52393630 52393637 1 32 540.21 - - 6 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 7 3 8 5 26 28 26 28 8 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689850442 7 57316312 TG T 360 PASS - - - - - Del - D 57316312 57316316 1 12 324.126 - - 3 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 5 5 7 17 19 17 19 5 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689857349 7 79989842 TTC T 300 PASS - - - - - Del - D 79989842 79989860 2 10 270.105 - - 8 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 1 4 1 4 24 36 24 36 1 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689857423 7 80250720 TG T 540 PASS CD36 CCDS34673.1 r.? - - Del intronic D 80250720 80250722 1 28 486.189 - - 1 1 1 CD36|CCDS34673.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CD36|CCDS34673.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 6 3 9 32 29 32 29 3 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689857682 7 81268347 CCATAT C 540 PASS - - - - - Del - D 81268347 81268356 5 28 486.189 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 6 6 8 32 37 32 37 6 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689858967 7 85055560 TA T 840 PASS - - - - - Del - D 85055560 85055569 1 63 755.691 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 8 6 15 7 37 31 37 31 15 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689860209 7 89602491 CT C 360 PASS - - - - - Del - D 89602491 89602495 1 12 322.922 - - 3 1 1 - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 1 5 1 7 13 27 13 27 1 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689862722 7 99278094 TC T 960 PASS CYP3A5 CCDS5672.1 r.? - - Del upstream D 99278094 99278097 1 81 861.325 - - 2 1 1 CYP3A5|CCDS5672.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CYP3A5|CCDS5672.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 18 14 18 14 0 0 ./. 8 8 8 10 33 28 33 28 8 10 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689865526 7 109470441 AG A 780 PASS - - - - - Del - D 109470441 109470444 1 50 700.466 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 9 6 9 29 27 29 27 6 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689868888 7 122176209 TG T 780 PASS CADPS2 CCDS47691.1 r.? - - Del intronic D 122176209 122176211 1 56 702.272 - - 1 1 1 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 7 9 7 33 34 33 34 9 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689870111 7 125844014 T TA 780 PASS - - - - - Ins - I 125844014 125844023 1 56 688.425 - - 8 1 1 - - ./. 0 0 0 0 7 8 7 9 0 0 ./. 7 6 9 6 38 32 38 32 9 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689885253 8 18991209 T TA 540 PASS - - - - - Ins - I 18991209 18991218 1 18 480.573 - - 8 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 1 8 2 12 14 23 14 23 2 12 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689890010 8 38867483 A AAACAAAC 350 PASS ADAM9 CCDS6112.1 r.? - - Ins intronic I 38867483 38867484 7 36 451.435 - - 0 1 1 ADAM9|CCDS6112.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAM9|CCDS6112.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 5 3 8 0 0 ./. 8 3 0 2 51 37 53 39 8 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689890451 8 39722041 A AT 720 PASS - - - - - Ins - I 39722041 39722044 1 48 641.567 - - 2 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 7 5 10 8 67 92 67 92 10 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689906721 8 97789291 GT G 600 PASS ENSG00000104324 CCDS6273.1 r.? - - Del intronic D 97789291 97789301 1 32 540.659 - - 9 1 1 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 7 3 8 4 37 49 37 49 8 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689908616 8 103629245 AAT A 957 PASS - - - - - Del - D 103629245 103629250 2 77 861.443 - - 2 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 6 10 9 16 26 31 26 31 9 16 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689910533 8 109595583 AG A 480 PASS - - - - - Del - D 109595583 109595586 1 25 432.527 - - 2 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 4 7 7 28 38 28 38 7 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689913267 8 118718151 C CT 780 PASS - - - - - Ins - I 118718151 118718158 1 56 695.03 - - 6 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 6 7 10 8 48 45 49 46 10 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689914017 8 120962824 C CT 660 PASS DEPDC6 CCDS6331.1 r.? - - Ins intronic I 120962824 120962829 1 12 586.898 - - 4 1 - DEPDC6|CCDS6331.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DEPDC6|CCDS6331.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 11 0 15 5 21 18 21 18 15 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689914552 8 122663980 TA T 389 PASS - - - - - Del - D 122663980 122663989 1 20 376.655 - - 8 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 3 7 4 29 33 29 33 7 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689919266 8 137849673 CT C 540 PASS - - - - - Del - D 137849673 137849678 1 28 486.593 - - 4 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 3 6 6 11 40 47 40 47 6 11 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689922544 9 2494312 A AG 480 PASS - - - - - Ins - I 2494312 2494313 1 16 428.63 - - 0 1 1 - - ./. 0 0 0 0 12 5 13 5 0 0 ./. 7 1 8 4 27 20 27 21 8 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689924112 9 7876551 G GA 660 PASS - - - - - Ins - I 7876551 7876561 1 42 588.764 - - 9 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 6 5 8 8 38 37 39 38 8 8 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689928672 9 22450303 TACAA T 480 PASS DMRTA1 CCDS6514.1 r.? - - Del intronic D 22450303 22450312 4 24 433.447 - - 2 1 1 DMRTA1|CCDS6514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMRTA1|CCDS6514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 5 5 7 21 25 21 25 5 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689928762 9 22842483 CT C 329 PASS - - - - - Del - D 22842483 22842491 1 16 325.085 - - 7 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 3 4 5 24 33 24 33 4 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689931079 9 30771108 GATTGGTGCAAAAGTAATTGCAGTTTTTGCAATTACTTTTAATGACAAACACCGCAATTACTTTTGCACCAACCTACATATTGCATAAACTCAAACAAGGGAATGACCAGAGGGAGAGGAGCATGTTCACTACCAGTTCACTAGATATTCATTTTCTACCTCCTCATGTAGGCTAGCCTAGGTTAGCAATCAATACTTAATACTAGAATCTATGGTCATATCTCTCATCTACATTATATAAGTCAGCAAGCCTTCTTGAAGATGGGATAAGTGCCTTGTGATATATAAAAGTAACATGACACTAATGCTTTGGTATATTTAGAAAATATGTAATTAGCATAATGTGTCCAGGTTTATTTATATCTGCCTTTTCATTCCTGCTAATATTGATGTTAATGTGGCAGTTGCAAGCAGCTTTCAAATTCTTGGCAGTTCAATTCCACAGTACTTTAATTCATTATAGTAATTCATCTCTGTAAGGCAGAGAGGAAGGTTGAAAAGTATACTTAAGCTGTGGTTTCTTCTTTACAGATTTAGAGAGAGTGAAGAACCCCTAATACAAAACTAAAGAATGCATTATGGAATAACCTTTCTGAAATTGTATCATAGCTGTTTAACCATTGCCAGAACTAAA G 261 PASS - - - - - Del - D 30771108 30771742 633 28 487.025 - - 1 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 6 3 0 0 20 29 26 32 6 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689937358 9 71155930 C CA 360 PASS C9orf71 CCDS35040.1 r.? - - Ins upstream I 71155930 71155937 1 15 320.87 - - 6 1 1 C9orf71|CCDS35040.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 C9orf71|CCDS35040.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 2 4 3 17 16 17 16 4 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689938560 9 75590582 G GT 300 PASS ALDH1A1 ENST00000419959 r.? - - Ins intronic I 75590582 75590592 1 10 266.088 - - 9 1 1 ALDH1A1|ENST00000419959|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ALDH1A1|ENST00000419959|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 1 4 1 4 22 20 22 20 1 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689939312 9 78674733 T TA 689 PASS PCSK5 CCDS6652.1 r.? - - Ins intronic I 78674733 78674741 1 49 642.945 - - 7 1 1 PCSK5|CCDS6652.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCSK5|CCDS6652.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 6 6 9 9 28 22 28 22 9 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689943387 9 96274517 CTG C 756 PASS FAM120A CCDS6706.1 r.? - - Del intronic D 96274517 96274521 2 54 704.351 - - 1 1 1 FAM120A|CCDS6706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM120A|CCDS6706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 8 7 9 13 26 13 26 7 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689944835 9 103757645 A AT 567 PASS - - - - - Ins - I 103757645 103757654 1 42 577.927 - - 8 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 5 6 6 18 17 18 17 6 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689950038 9 121508884 C CA 360 PASS - - - - - Ins - I 121508884 121508893 1 12 321.473 - - 8 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 5 5 9 36 43 36 43 5 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689955944 X 5135715 CGA C 420 PASS - - - - - Del - D 5135715 5135732 2 20 379.37 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 4 3 5 18 24 18 24 3 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689956494 X 6911555 AGAGGAAGTCCAGAGTCCTCTCAGACTCTGGGAAAGCCACACACATTATGTGACACACACTTCTTTATATTCAGATAGAGGCAATCTGACATGCACTTCATACATGGATTTGATAACAGGCCATTTTGAAAATGGGGAAAAATAGCCACATAGAATTATATACAATGATGTTAACTGTACTAATATTGTTAATCTTATAATATTGTTAAAAATAAATATGTTCAAATTTATGTTGCTGCTTCCACTCCAAGGACTACCACATTTTTGTATCAAAGGAGCAGAGCATAACACCATTTCTCTTACTGAGTCAATTGGACTGAGCTCACCCCACATGTGCTAGAGGAATCAATCTTCATGGAGTGGGATGTCCAGTAGGGCACGTGGATCTAAGGGAGAATATTGAAAGCCAATACAAAATCCATATGAAATTGTATGACAATTAAGACAGAACAAATTGGAATATTAGATTTCTTTTACATTTCAGAATTTTAACTGCTATTGAGTCCATCAGAAATAAACCTACAAAAATAATGTCTTCATATTGATGAGCTTTGTTACAGATATCTCCTGTTTCCAGACCAAAGCAATGGAAAACAATGAAGAAAAGGAAAAAATTAGGCCAGGCACAGTGGCCCATGTCAATAAACTCAGCGCTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCAGGTGCTTGACACCAGCCTGGGCAACACTGTGAGACCCTGTCTCCTCATAAAACAGAAAAAATAGCTGGGCATAGTGGCATGCATCTGTAGTCGCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTAAACCCAGGTGTTGGAGGCTATATGATTGCACTACTGCATTCCAGCCTGGGTGACAAAGCAAGATCCTGTTCCAAAATAAAATAAAATAAAAGTCTGTCTTTGAT A 290 PASS - - - - - Del - D 6911555 6912482 922 32 540.753 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 7 3 0 0 20 24 27 27 7 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689959607 X 22642064 AC A 540 PASS - - - - - Del - D 22642064 22642067 1 30 487.761 - - 2 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 5 7 7 19 25 19 25 7 7 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689962704 X 35875634 GA G 749 PASS - - - - - Del - D 35875634 35875636 1 50 704.544 - - 1 1 1 - - ./. 0 0 0 0 18 6 18 6 0 0 ./. 9 4 10 5 29 19 29 19 10 5 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689962758 X 36373318 C CA 300 PASS CXorf30 ENST00000378653 r.? - - Ins intronic I 36373318 36373328 1 6 267.366 - - 9 1 1 CXorf30|ENST00000378653|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CXorf30|ENST00000378653|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 0 6 0 30 26 30 26 6 0 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689963848 X 42237278 AAC A 660 PASS - - - - - Del - D 42237278 42237282 2 30 596.153 - - 1 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 9 2 13 2 37 15 37 15 13 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689965998 X 53680951 A AT 420 PASS HUWE1 CCDS35301.1 r.? - - Ins intronic I 53680951 53680959 1 18 371.543 - - 7 1 1 HUWE1|CCDS35301.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HUWE1|CCDS35301.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 5 6 9 28 27 28 28 6 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689966918 X 62347987 AT A 360 PASS - - - - - Del - D 62347987 62347995 1 15 325.174 - - 7 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 4 2 5 3 30 26 30 26 5 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689967201 X 64980382 C CT 300 PASS - - - - - Ins - I 64980382 64980389 1 6 267.968 - - 6 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 0 7 2 26 14 26 14 7 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689968152 X 69599683 ACT A 509 PASS KIF4A CCDS14401.1 r.? - - Del intronic D 69599683 69599688 2 28 462.475 - - 2 1 1 KIF4A|CCDS14401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF4A|CCDS14401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 6 4 9 23 24 23 24 4 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689969817 X 78330919 C CA 598 PASS - - - - - Ins - I 78330919 78330929 1 36 570.264 - - 9 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 3 8 4 9 35 28 36 28 4 9 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689970686 X 82129886 G GA 269 PASS - - - - - Ins - I 82129886 82129896 1 12 266.764 - - 9 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 2 3 2 3 40 28 40 28 2 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689974016 X 96205160 A AT 360 PASS DIAPH2 CCDS14467.1 r.? - - Ins intronic I 96205160 96205167 1 15 321.562 - - 6 1 1 DIAPH2|CCDS14467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DIAPH2|CCDS14467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 2 6 2 35 25 35 25 6 2 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689976646 X 110057791 CA C 540 PASS - - - - - Del - D 110057791 110057798 1 30 485.353 - - 6 1 1 - - ./. 0 0 0 0 16 6 16 6 0 0 ./. 4 5 7 6 27 24 27 24 7 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689977144 X 112830163 C CT 420 PASS - - - - - Ins - I 112830163 112830171 1 18 372.145 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 10 0 0 ./. 5 2 8 4 38 32 39 32 8 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689977538 X 114535685 CT C 420 PASS LUZP4 CCDS14567.1 r.? - - Del intronic D 114535685 114535690 1 18 379.37 - - 4 1 1 LUZP4|CCDS14567.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LUZP4|CCDS14567.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 2 5 4 25 29 25 29 5 4 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689978864 X 120304227 CT C 420 PASS - - - - - Del - D 120304227 120304235 1 18 379.37 - - 7 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 2 5 3 6 23 24 23 24 3 6 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689978892 X 120387688 CT C 420 PASS - - - - - Del - D 120387688 120387690 1 18 379.37 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 2 7 3 28 19 28 19 7 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689984215 X 145331088 T TA 660 PASS - - - - - Ins - I 145331088 145331096 1 36 587.724 - - 7 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 8 3 11 3 35 22 36 22 11 3 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689985485 X 151186479 C CT 660 PASS - - - - - Ins - I 151186479 151186486 1 22 589.53 - - 6 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 10 4 15 28 44 28 44 4 15 1 1 1 1 1 1 1 1 2627078 PD13633a PD13633b 2689985998 X 153968396 GT G 480 PASS GAB3 CCDS48198.1 r.? - - Del intronic D 153968396 153968405 1 21 432.964 - - 8 1 1 GAB3|CCDS48198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAB3|CCDS48198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 6 4 9 25 30 25 30 4 9 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670132365 1 10714641 C CA 420 PASS CASZ1 CCDS41246.1 r.1990_1991insu c.1672_1673insT p.C558fs*2 Ins frameshift I 10714641 10714643 1 18 371.757 - - 1 1 1 CASZ1|CCDS41246.1|r.1990_1991insu|c.1672_1673insT|p.C558fs*2|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 CASZ1|CCDS41246.1|r.1990_1991insu|c.1672_1673insT|p.C558fs*2|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 20 11 20 11 0 0 ./. 5 2 6 2 26 24 26 24 6 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670158791 1 84754372 TG T 300 PASS - - - - - Del - D 84754372 84754374 1 10 268.379 - - 1 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 1 6 1 17 24 17 24 6 1 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670190503 1 192402753 CAT C 540 PASS - - - - - Del - D 192402753 192402757 2 30 484.167 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 4 7 6 26 20 26 20 7 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670196523 1 208358093 TAC T 360 PASS PLXNA2 CCDS31013.1 r.? - - Del intronic D 208358093 208358112 2 15 322.176 - - 9 1 1 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 2 4 2 17 24 17 24 4 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670204909 1 231375466 TA T 480 PASS GNPAT CCDS1592.1 r.? - - Del upstream D 231375466 231375468 1 21 429.166 - - 1 1 1 GNPAT|CCDS1592.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C1orf131|CCDS1591.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 21 10 21 0 0 ./. 2 6 2 7 15 29 15 29 2 7 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670207867 1 238500888 TTTTC T 269 PASS - - - - - Del - D 238500888 238500896 4 10 266.573 - - 1 1 - - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 1 4 2 4 24 31 24 31 2 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670208571 1 240217139 CG C 329 PASS FMN2 ENST00000447095 r.? - - Del intronic D 240217139 240217141 1 16 322.778 - - 1 1 1 FMN2|ENST00000447095|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FMN2|ENST00000447095|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 3 4 3 22 23 22 23 4 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670222141 10 24095485 G GA 420 PASS KIAA1217 CCDS41496.1 r.? - - Ins intronic I 24095485 24095494 1 14 370.136 - - 8 1 1 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 6 2 7 15 20 15 20 2 7 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670232169 10 52601523 CT C 300 PASS A1CF CCDS7243.1 r.? - - Del intronic D 52601523 52601533 1 12 269.973 - - 9 1 1 A1CF|CCDS7243.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 A1CF|CCDS7243.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 3 2 3 35 31 35 31 2 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670233512 10 55842713 AT A 480 PASS PCDH15 CCDS44404.1 r.? - - Del intronic D 55842713 55842720 1 21 431.957 - - 6 1 1 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 6 2 6 3 33 31 33 31 6 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670249317 10 101103649 G GT 269 PASS CNNM1 CCDS7478.2 r.? - - Ins intronic I 101103649 101103659 1 12 248.299 - - 9 1 1 CNNM1|CCDS7478.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNNM1|CCDS7478.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 3 14 19 14 19 2 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670252823 10 110950143 TG T 480 PASS - - - - - Del - D 110950143 110950147 1 24 431.957 - - 3 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 5 3 5 19 26 19 26 3 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670273897 11 32418594 GC G 420 PASS WT1 CCDS7878.2 r.? - - Del intronic D 32418594 32418597 1 20 378.316 - - 2 1 1 WT1|CCDS7878.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WT1|CCDS7878.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 4 4 5 18 22 18 22 4 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670275966 11 38179287 TG T 540 PASS - - - - - Del - D 38179287 38179289 1 24 485.805 - - 1 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 7 2 8 4 30 35 30 35 8 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670280725 11 50583344 C CT 300 PASS - - - - - Ins - I 50583344 50583352 1 10 267.216 - - 7 1 1 - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 1 4 2 6 34 33 34 33 2 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670289406 11 79663022 TC T 540 PASS - - - - - Del - D 79663022 79663025 1 28 486.407 - - 2 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 6 3 7 32 35 32 35 3 7 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670311789 12 7613920 T TG 300 PASS - - - - - Ins - I 7613920 7613922 1 10 267.272 - - 1 1 1 - - ./. 0 0 0 0 23 15 23 15 0 0 ./. 1 4 1 4 16 24 16 24 1 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670333292 12 67413849 C CT 480 PASS - - - - - Ins - I 67413849 67413857 1 9 427.635 - - 7 1 1 - - ./. 0 0 0 0 20 26 21 27 0 0 ./. 0 8 0 9 17 48 17 48 0 9 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670338246 12 82081607 TATTA T 480 PASS - - - - - Del - D 82081607 82081616 4 24 432.451 - - 2 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 3 6 5 22 21 22 21 6 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670338454 12 82680272 GGA G 300 PASS - - - - - Del - D 82680272 82680291 2 12 268.476 - - 9 1 - - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 2 3 3 27 23 27 23 3 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670346167 12 104771815 C CA 360 PASS - - - - - Ins - I 104771815 104771824 1 16 320.726 - - 8 1 - - - ./. 0 0 0 0 13 15 14 15 0 0 ./. 3 3 4 4 29 18 29 18 4 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670347055 12 107368266 ATACTTC A 290 PASS C12orf23 CCDS9110.1 r.? - - Del downstream D 107368266 107368274 6 36 540.564 - - 1 1 1 C12orf23|CCDS9110.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 C12orf23|CCDS9110.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 9 16 9 16 0 0 ./. 5 5 6 5 32 25 32 25 6 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670355442 12 129073805 AC A 420 PASS TMEM132C CCDS45009.1 r.? - - Del intronic D 129073805 129073810 1 20 378.395 - - 4 1 1 TMEM132C|CCDS45009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM132C|CCDS45009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 4 4 4 14 23 14 23 4 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670355455 12 129113352 TC T 300 PASS TMEM132C CCDS45009.1 r.? - - Del intronic D 129113352 129113355 1 12 270.282 - - 2 1 1 TMEM132C|CCDS45009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM132C|CCDS45009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 3 3 15 17 15 17 3 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670364502 13 35160302 AAG A 269 PASS - - - - - Del - D 35160302 35160306 2 12 270.736 - - 1 1 1 - - ./. 0 0 0 0 24 11 24 11 0 0 ./. 3 2 3 2 23 17 23 17 3 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670367478 13 42879656 G GT 269 PASS AKAP11 CCDS9383.1 r.? - - Ins intronic I 42879656 42879666 1 12 267.123 - - 9 1 1 AKAP11|CCDS9383.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AKAP11|CCDS9383.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 3 2 3 25 29 25 29 2 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670372054 13 55663151 TC T 420 PASS - - - - - Del - D 55663151 55663154 1 14 379.03 - - 2 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 1 6 1 6 15 33 15 33 1 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670374839 13 63066765 CA C 329 PASS - - - - - Del - D 63066765 63066773 1 15 324.281 - - 7 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 4 2 6 4 29 26 29 26 6 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670376198 13 66302180 G GT 300 PASS - - - - - Ins - I 66302180 66302190 1 12 267.725 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 18 0 0 ./. 2 3 3 5 25 40 25 40 3 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670384444 13 88640198 GC G 420 PASS - - - - - Del - D 88640198 88640203 1 20 379.03 - - 4 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 3 4 3 5 20 41 20 41 3 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670390767 13 105183113 CACAG C 540 PASS - - - - - Del - D 105183113 105183121 4 28 487.324 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 6 3 6 33 28 33 28 3 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670396598 14 24682220 TC T 360 PASS CHMP4A CCDS9619.1 r.? - - Del intronic D 24682220 24682222 1 15 325.358 - - 1 1 1 CHMP4A|CCDS9619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHMP4A|CCDS9619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 4 2 7 3 25 25 25 25 7 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670397303 14 26872526 TC T 300 PASS - - - - - Del - D 26872526 26872530 1 12 271.132 - - 3 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 3 2 5 24 20 24 20 2 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670398233 14 29435663 GT G 300 PASS - - - - - Del - D 29435663 29435668 1 12 271.132 - - 4 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 2 4 22 19 22 19 2 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670402374 14 39867982 TAC T 478 PASS FBXO33 CCDS9677.1 r.2742_2743delGU c.? p.? Del 3'UTR variant D 39867982 39867986 2 30 483.822 - - 1 1 1 FBXO33|CCDS9677.1|r.2742_2743delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 FBXO33|CCDS9677.1|r.2742_2743delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 4 5 7 31 29 31 29 5 7 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670402550 14 40474463 CT C 360 PASS - - - - - Del - D 40474463 40474465 1 12 325.358 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 1 5 2 6 26 22 26 22 2 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670408844 14 57476299 TC T 300 PASS - - - - - Del - D 57476299 57476302 1 10 271.132 - - 2 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 1 4 1 6 19 24 19 24 1 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670410902 14 63246269 G GT 480 PASS KCNH5 CCDS9756.1 r.? - - Ins intronic I 63246269 63246277 1 24 428.994 - - 7 1 1 KCNH5|CCDS9756.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH5|CCDS9756.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 5 3 7 3 34 29 34 29 7 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670432357 15 33719841 GA G 480 PASS RYR3 CCDS45210.1 r.? - - Del intronic D 33719841 33719844 1 24 429.91 - - 2 1 1 RYR3|CCDS45210.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR3|CCDS45210.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 3 6 3 29 28 29 28 6 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670437231 15 46530961 GA G 360 PASS - - - - - Del - D 46530961 46530970 1 16 325.594 - - 8 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 3 3 18 31 18 31 3 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670438454 15 50394465 C CA 360 PASS ATP8B4 CCDS32238.1 r.? - - Ins intronic I 50394465 50394475 1 16 321.379 - - 9 1 1 ATP8B4|CCDS32238.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP8B4|CCDS32238.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 13 17 0 0 ./. 3 3 3 3 28 27 28 27 3 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670442653 15 60885421 T TC 300 PASS RORA CCDS10177.1 r.? - - Ins intronic I 60885421 60885429 1 12 268.318 - - 7 1 1 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 3 2 5 2 31 27 31 28 5 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670444453 15 65283941 T TA 300 PASS SPG21 CCDS10198.1 r.? - - Ins upstream I 65283941 65283951 1 12 267.114 - - 9 1 1 SPG21|CCDS10198.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 SPG21|CCDS10198.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 2 3 24 22 25 22 2 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670452618 15 88648927 TAC T 300 PASS NTRK3 CCDS10340.1 r.? - - Del intronic D 88648927 88648944 2 12 271.328 - - 8 1 1 NTRK3|CCDS10340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTRK3|CCDS10340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 2 3 2 3 32 20 32 20 2 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670460954 16 7784501 CCTATTTTCATAATA C 261 PASS - - - - - Del - D 7784501 7784517 14 30 488.397 - - 1 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 4 5 4 5 26 26 26 26 4 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670462420 16 10907436 TA T 300 PASS FAM18A CCDS45408.1 r.? - - Del intronic D 10907436 10907440 1 10 271.332 - - 3 1 - FAM18A|CCDS45408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM18A|CCDS45408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 1 4 1 4 14 20 14 20 1 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670463514 16 13316668 TAC T 300 PASS SHISA9 CCDS45417.1 r.? - - Del intronic D 13316668 13316672 2 10 269.526 - - 1 1 - SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 18 4 18 0 0 ./. 1 4 2 4 23 20 23 20 2 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670467139 16 23846526 GC G 300 PASS PRKCB CCDS10619.1 r.? - - Del upstream D 23846526 23846528 1 12 271.332 - - 1 1 1 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 5 9 5 0 0 ./. 3 2 3 2 18 19 18 19 3 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670473498 16 48994324 A AG 300 PASS - - - - - Ins - I 48994324 48994325 1 12 264.107 - - 0 1 - - - ./. 0 0 0 0 12 18 13 18 0 0 ./. 2 3 2 5 27 24 27 24 2 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670492947 17 13588729 C CT 300 PASS - - - - - Ins - I 13588729 13588738 1 10 268.447 - - 8 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 1 4 2 20 17 20 18 4 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670530359 18 42067113 AG A 300 PASS AC110014.1 ENST00000511428 r.? - - Del intronic D 42067113 42067115 1 12 270.099 - - 1 1 1 AC110014.1|ENST00000511428|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC110014.1|ENST00000511428|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 21 15 21 0 0 ./. 2 3 2 5 11 29 11 29 2 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670539667 18 67138821 G GGT 356 PASS DOK6 CCDS32841.1 r.? - - Ins intronic I 67138821 67138822 2 9 404.583 - - 0 1 1 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 0 8 0 3 23 28 23 28 0 11 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670563430 19 49116884 A ACC 840 PASS FAM83E CCDS42587.1 r.? - - Ins upstream I 49116884 49116888 2 63 739.801 - - 3 1 1 FAM83E|CCDS42587.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 FAM83E|CCDS42587.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 7 5 7 5 0 0 ./. 6 8 6 8 26 18 26 18 6 8 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670585356 2 48852896 A AT 300 PASS STON1-GTF2A1L CCDS1840.1 r.? - - Ins intronic I 48852896 48852903 1 10 265.988 - - 6 1 1 STON1-GTF2A1L|CCDS1840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STON1-GTF2A1L|CCDS1840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 1 4 1 5 27 24 29 24 1 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670596419 2 82133835 TG T 960 PASS - - - - - Del - D 82133835 82133837 1 65 857.785 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 12 5 13 29 33 29 33 5 13 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670596892 2 83955282 A AT 300 PASS - - - - - Ins - I 83955282 83955290 1 12 265.988 - - 7 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 5 4 23 35 23 35 5 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670602332 2 102798245 T TG 300 PASS IL1R1 CCDS2055.1 r.? - - Ins downstream I 102798245 102798255 1 6 261.172 - - 9 1 1 IL1R1|CCDS2055.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 IL1R1|CCDS2055.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 16 7 16 7 0 0 ./. 5 0 2 0 22 14 22 14 7 0 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670603591 2 106573050 C CA 360 PASS - - - - - Ins - I 106573050 106573053 1 16 319.186 - - 2 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 3 3 4 5 22 25 22 25 4 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670603980 2 107673479 A AT 360 PASS - - - - - Ins - I 107673479 107673488 1 15 319.186 - - 8 1 1 - - ./. 0 0 0 0 24 17 24 17 0 0 ./. 2 4 5 4 40 20 40 20 5 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670607555 2 119125203 G GT 360 PASS - - - - - Ins - I 119125203 119125211 1 15 319.186 - - 7 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 4 2 4 24 33 24 33 2 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670614925 2 140556975 CTG C 480 PASS - - - - - Del - D 140556975 140556980 2 25 429.193 - - 2 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 4 6 5 22 32 22 32 6 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670631197 2 186775173 AC A 350 PASS - - - - - Del - D 186775173 186775179 1 12 320.992 - - 5 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 1 5 1 5 26 26 26 26 1 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670633492 2 193179347 T TG 300 PASS - - - - - Ins - I 193179347 193179354 1 12 262.978 - - 6 1 1 - - ./. 0 0 0 0 20 14 20 15 0 0 ./. 2 3 3 6 21 25 23 25 3 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670635792 2 200011224 TACAA T 538 PASS - - - - - Del - D 200011224 200011232 4 32 537.997 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 7 5 8 31 34 31 34 5 8 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670636620 2 202251194 CAG C 360 PASS TRAK2 CCDS2347.1 r.2137_2138delCU c.1708_1709delCT p.L570fs*16 Del frameshift D 202251194 202251199 2 15 322.798 - - 2 1 1 TRAK2|CCDS2347.1|r.2137_2138delCU|c.1708_1709delCT|p.L570fs*16|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 TRAK2|CCDS2347.1|r.2137_2138delCU|c.1708_1709delCT|p.L570fs*16|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 4 2 4 20 28 20 28 2 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670659590 20 23915143 TC T 300 PASS - - - - - Del - D 23915143 23915145 1 12 271.942 - - 1 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 2 3 2 4 21 24 21 24 2 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670678130 21 16909362 T TA 540 PASS - - - - - Ins - I 16909362 16909369 1 28 483.892 - - 6 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 6 3 6 5 32 47 32 47 6 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670685793 21 33580441 GTC G 300 PASS - - - - - Del - D 33580441 33580459 2 12 271.839 - - 8 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 2 3 2 3 17 22 17 22 2 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670702885 22 43225158 AG A 360 PASS ARFGAP3 CCDS14042.1 r.? - - Del intronic D 43225158 43225160 1 15 327.789 - - 1 1 1 ARFGAP3|CCDS14042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARFGAP3|CCDS14042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 2 5 4 17 18 17 18 5 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670709954 3 10988576 AT A 480 PASS - - - - - Del - D 10988576 10988586 1 16 431.157 - - 9 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 1 7 1 8 25 26 25 26 1 8 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670714989 3 25503062 AC A 300 PASS RARB CCDS2642.1 r.? - - Del intronic D 25503062 25503068 1 12 269.473 - - 5 1 1 RARB|CCDS2642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RARB|CCDS2642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 13 25 13 0 0 ./. 3 2 4 3 16 22 16 22 4 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670720970 3 43515930 CTA C 300 PASS ANO10 CCDS2710.2 r.? - - Del intronic D 43515930 43515933 2 10 269.473 - - 1 1 1 ANO10|CCDS2710.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO10|CCDS2710.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 1 5 2 24 28 24 28 5 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670729895 3 68791284 G GA 480 PASS FAM19A4 CCDS2907.1 r.? - - Ins intronic I 68791284 68791290 1 24 426.341 - - 5 1 1 FAM19A4|CCDS2907.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM19A4|CCDS2907.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 5 4 7 28 23 28 23 4 7 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670731762 3 73711616 T TA 300 PASS - - - - - Ins - I 73711616 73711625 1 10 266.463 - - 8 1 1 - - ./. 0 0 0 0 24 15 24 15 0 0 ./. 4 1 4 3 39 33 39 33 4 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670747460 3 120303793 TA T 360 PASS - - - - - Del - D 120303793 120303797 1 12 323.368 - - 3 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 5 1 6 3 26 15 26 15 6 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670749966 3 128036522 CG C 300 PASS EEFSEC CCDS33849.1 r.? - - Del intronic D 128036522 128036526 1 10 269.473 - - 3 1 1 EEFSEC|CCDS33849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EEFSEC|CCDS33849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 4 2 5 18 24 18 24 2 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670763116 3 167136140 AC A 360 PASS - - - - - Del - D 167136140 167136143 1 15 323.368 - - 2 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 2 7 2 17 17 17 17 7 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670774956 4 2539723 CTATT C 269 PASS - - - - - Del - D 2539723 2539731 4 6 269.313 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 0 6 2 24 15 24 15 6 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670783564 4 27416587 CT C 360 PASS - - - - - Del - D 27416587 27416589 1 15 323.175 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 2 4 2 23 19 23 19 4 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670785798 4 33528635 A AT 300 PASS - - - - - Ins - I 33528635 33528643 1 12 266.302 - - 7 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 3 2 3 30 25 30 25 2 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670793402 4 55676468 GT G 300 PASS - - - - - Del - D 55676468 55676475 1 12 269.313 - - 6 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 2 3 2 6 22 31 22 31 2 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670794538 4 58545784 CTG C 480 PASS - - - - - Del - D 58545784 58545788 2 24 430.9 - - 1 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 3 5 9 6 30 29 30 29 9 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670797151 4 65228731 T TG 300 PASS TECRL CCDS33990.1 r.? - - Ins intronic I 65228731 65228732 1 12 260.884 - - 0 1 1 TECRL|CCDS33990.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TECRL|CCDS33990.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 2 3 2 28 31 28 31 3 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670802784 4 81493434 G GT 360 PASS C4orf22 CCDS3587.1 r.? - - Ins intronic I 81493434 81493444 1 15 319.563 - - 9 1 1 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 4 2 5 24 30 24 30 2 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670803491 4 83706753 TC T 329 PASS SCD5 CCDS34024.1 r.? - - Del intronic D 83706753 83706755 1 15 317.155 - - 1 1 1 SCD5|CCDS34024.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCD5|CCDS34024.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 2 4 2 6 23 23 23 23 2 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670815970 4 120534526 C CT 300 PASS PDE5A CCDS3713.1 r.? - - Ins intronic I 120534526 120534536 1 12 265.098 - - 9 1 1 PDE5A|CCDS3713.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE5A|CCDS3713.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 19 22 19 0 0 ./. 3 2 3 2 32 28 32 28 3 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670842307 4 190523130 TG T 540 PASS - - - - - Del - D 190523130 190523135 1 30 484.763 - - 4 1 1 - - ./. 0 0 0 0 40 52 40 52 0 0 ./. 5 4 5 4 87 87 87 87 5 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670851888 5 22855385 TA T 360 PASS CDH12 CCDS3890.1 r.? - - Del upstream D 22855385 22855392 1 16 323.697 - - 6 1 1 CDH12|CCDS3890.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CDH12|CCDS3890.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 3 4 3 24 32 24 32 4 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670853403 5 27100897 TA T 300 PASS CDH9 ENST00000513289 r.? - - Del intronic D 27100897 27100906 1 10 269.146 - - 8 1 1 CDH9|ENST00000513289|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CDH9|ENST00000513289|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 1 4 2 19 19 19 19 4 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670854609 5 30022662 TA T 300 PASS - - - - - Del - D 30022662 30022664 1 10 269.748 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 1 4 1 4 24 19 24 19 1 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670854838 5 30525026 AAT A 300 PASS - - - - - Del - D 30525026 30525033 2 12 269.748 - - 3 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 3 5 5 30 29 30 29 5 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670860138 5 45579531 TA T 480 PASS HCN1 CCDS3952.1 r.? - - Del intronic D 45579531 45579535 1 21 430.994 - - 3 1 1 HCN1|CCDS3952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HCN1|CCDS3952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 2 6 2 24 16 24 16 6 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670860439 5 49827601 T TG 276 PASS - - - - - Ins - I 49827601 49827605 1 10 266.737 - - 3 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 4 3 4 25 28 25 29 3 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670865490 5 64182024 C CA 300 PASS CWC27 CCDS3982.2 r.? - - Ins intronic I 64182024 64182034 1 6 266.135 - - 9 1 1 CWC27|CCDS3982.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CWC27|CCDS3982.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 17 7 17 0 0 ./. 5 0 5 1 17 30 17 31 5 1 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670876316 5 97509200 TC T 540 PASS - - - - - Del - D 97509200 97509206 1 28 485.546 - - 5 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 6 3 8 3 23 29 23 29 8 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670876911 5 99206168 GAAAC G 300 PASS - - - - - Del - D 99206168 99206192 4 12 267.942 - - 5 1 - - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 3 4 26 26 26 26 3 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670877229 5 100326220 ATCTT A 300 PASS - - - - - Del - D 100326220 100326234 4 12 269.748 - - 3 1 1 - - ./. 0 0 0 0 24 15 24 15 0 0 ./. 3 2 3 2 26 24 26 24 3 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670891119 5 142637921 TTCTTTCTTC T 420 PASS - - - - - Del - D 142637921 142637934 9 18 372.83 - - 1 1 - - - ./. 0 0 0 0 7 3 9 3 0 0 ./. 5 2 0 0 22 9 22 9 5 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670892577 5 147417413 CTCTG C 389 PASS - - - - - Del - D 147417413 147417421 4 20 377.647 - - 1 1 1 - - ./. 0 0 0 0 27 10 27 10 0 0 ./. 3 4 4 5 24 24 24 24 4 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670893087 5 148914674 C CGCTTT 358 PASS CSNK1A1 CCDS47303.1 r.? - - Ins intronic I 148914674 148914680 5 18 356.575 - - 1 1 1 CSNK1A1|CCDS47303.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSNK1A1|CCDS47303.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 15 0 0 ./. 5 2 5 2 23 14 23 14 5 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670895688 5 156840763 C CA 300 PASS - - - - - Ins - I 156840763 156840773 1 10 266.737 - - 9 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 1 4 1 5 25 24 25 24 1 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670903065 5 177731898 GCC G 360 PASS COL23A1 CCDS4436.1 r.? - - Del intronic D 177731898 177731902 2 16 323.697 - - 3 1 1 COL23A1|CCDS4436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL23A1|CCDS4436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 3 3 3 27 14 27 14 3 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670924869 6 53159830 ATTTCT A 300 PASS ELOVL5 CCDS4951.1 r.? - - Del intronic D 53159830 53159839 5 10 269.733 - - 1 1 1 ELOVL5|CCDS4951.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELOVL5|CCDS4951.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 1 4 3 5 28 21 28 21 3 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670925368 6 54463768 GCT G 300 PASS - - - - - Del - D 54463768 54463786 2 6 269.131 - - 8 1 - - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 0 5 1 30 16 30 16 5 1 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670940493 6 97780183 T TC 300 PASS - - - - - Ins - I 97780183 97780184 1 10 261.304 - - 0 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 1 6 1 29 23 29 23 6 1 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670942244 6 102972714 C CTT 360 PASS - - - - - Ins - I 102972714 102972718 2 16 316.455 - - 3 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 5 4 24 28 24 28 5 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670943802 6 107196051 CAATCCCCTTCATATGA C 261 PASS - - - - - Del - D 107196051 107196070 16 30 485.519 - - 1 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 5 4 5 23 24 23 24 4 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670948477 6 121213871 CA C 300 PASS - - - - - Del - D 121213871 121213873 1 10 269.733 - - 1 1 1 - - ./. 0 0 0 0 4 15 4 15 0 0 ./. 1 4 2 5 20 21 20 21 2 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670949319 6 123328112 GA G 360 PASS CLVS2 CCDS34525.1 r.? - - Del intronic D 123328112 123328120 1 12 323.68 - - 7 1 1 CLVS2|CCDS34525.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLVS2|CCDS34525.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 20 23 20 0 0 ./. 1 5 3 6 19 24 19 24 3 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670950622 6 127782306 T TA 300 PASS C6orf174 CCDS34531.1 r.? - - Ins intronic I 127782306 127782314 1 10 266.723 - - 7 1 1 C6orf174|CCDS34531.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C6orf174|CCDS34531.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 15 14 0 0 ./. 1 4 2 7 15 22 15 22 2 7 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670950639 6 127851314 T TA 300 PASS - - - - - Ins - I 127851314 127851323 1 12 263.712 - - 8 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 3 2 4 24 18 24 19 2 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670959764 6 154283439 T TA 300 PASS - - - - - Ins - I 154283439 154283446 1 12 266.723 - - 6 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 3 4 29 25 29 25 3 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670964036 6 165818162 GA G 509 PASS PDE10A CCDS5289.1 r.? - - Del intronic D 165818162 165818171 1 28 484.315 - - 8 1 1 PDE10A|CCDS5289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE10A|CCDS5289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 3 7 4 27 26 27 26 7 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670968395 7 6529053 A AT 300 PASS - - - - - Ins - I 6529053 6529056 1 12 266.887 - - 2 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 2 3 2 5 9 25 9 26 2 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670969728 7 10005028 GTC G 300 PASS - - - - - Del - D 10005028 10005032 2 12 268.091 - - 1 1 - - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 3 3 3 13 21 13 21 3 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670971993 7 15788678 G GT 269 PASS - - - - - Ins - I 15788678 15788688 1 10 266.284 - - 9 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 4 2 5 19 32 19 33 2 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670976374 7 28344825 C CT 660 PASS CREB5 CCDS43562.1 r.? - - Ins intronic I 28344825 28344834 1 40 586.548 - - 8 1 1 CREB5|CCDS43562.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CREB5|CCDS43562.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 15 18 16 0 0 ./. 7 4 10 5 32 28 32 28 10 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670977529 7 31637115 AC A 420 PASS CCDC129 CCDS5435.2 r.? - - Del intronic D 31637115 31637120 1 18 377.856 - - 4 1 1 CCDC129|CCDS5435.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC129|CCDS5435.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 2 5 2 28 23 28 23 5 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670985249 7 53591057 ATG A 269 PASS - - - - - Del - D 53591057 53591077 2 10 269.897 - - 9 1 - - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 1 5 1 39 21 39 21 5 1 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2670992385 7 71323657 AC A 480 PASS CALN1 CCDS47603.1 r.? - - Del intronic D 71323657 71323659 1 24 431.835 - - 1 1 1 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 3 6 4 17 26 17 26 6 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671010155 7 124102394 G GT 300 PASS - - - - - Ins - I 124102394 124102404 1 10 265.682 - - 9 1 1 - - ./. 0 0 0 0 19 26 19 26 0 0 ./. 1 4 2 4 28 31 28 32 2 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671020495 7 151874522 AG A 360 PASS BAGE3 CCDS5931.1 r.8234delC c.8015delC p.S2672fs*6 Del frameshift D 151874522 151874524 1 15 322.672 - - 1 1 1 BAGE3|CCDS5931.1|r.8234delC|c.8015delC|p.S2672fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 BAGE3|CCDS5931.1|r.8234delC|c.8015delC|p.S2672fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 2 4 4 19 28 19 28 4 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671029847 8 16460490 TA T 600 PASS - - - - - Del - D 16460490 16460493 1 32 538.016 - - 2 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 7 3 10 3 35 20 35 20 10 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671041727 8 52778704 G GA 480 PASS PCMTD1 CCDS6148.1 r.? - - Ins intronic I 52778704 52778713 1 24 427.523 - - 8 1 1 PCMTD1|CCDS6148.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PCMTD1|CCDS6148.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 3 5 4 7 34 40 34 40 4 7 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671044562 8 61656008 GT G 420 PASS CHD7 CCDS47865.1 r.? - - Del intronic D 61656008 61656013 1 20 378.297 - - 4 1 1 CHD7|CCDS47865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHD7|CCDS47865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 3 5 3 32 17 32 17 5 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671045546 8 65083605 TGAAA T 300 PASS - - - - - Del - D 65083605 65083625 4 12 270.212 - - 4 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 3 2 3 2 23 26 23 26 3 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671050667 8 80740572 TC T 277 PASS AC016240.1 ENST00000502766 r.? - - Del intronic D 80740572 80740574 1 6 249.14 - - 1 1 - AC016240.1|ENST00000502766|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC016240.1|ENST00000502766|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 0 8 0 22 17 23 17 9 0 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671056936 8 99369603 GC G 300 PASS - - - - - Del - D 99369603 99369605 1 12 270.212 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 3 5 21 19 21 19 3 5 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671058369 8 104086692 T TA 360 PASS ATP6V1C1 CCDS6296.1 r.? - - Ins downstream I 104086692 104086694 1 15 320.642 - - 1 1 1 ATP6V1C1|CCDS6296.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ATP6V1C1|CCDS6296.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 19 12 19 12 0 0 ./. 2 4 6 4 22 26 22 26 6 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671067658 8 132096358 CT C 300 PASS - - - - - Del - D 132096358 132096367 1 12 270.212 - - 8 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 3 3 6 28 21 28 21 3 6 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671068092 8 133570537 CG C 300 PASS - - - - - Del - D 133570537 133570542 1 6 269.008 - - 4 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 5 0 6 2 25 14 25 14 6 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671069960 8 139328001 G GA 300 PASS FAM135B CCDS6375.2 r.? - - Ins intronic I 139328001 139328011 1 12 267.202 - - 9 1 1 FAM135B|CCDS6375.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM135B|CCDS6375.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 15 0 0 ./. 2 3 2 3 33 18 33 31 2 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671083742 9 33701590 T TA 300 PASS - - - - - Ins - I 33701590 33701600 1 10 267.524 - - 9 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 1 4 1 24 16 24 16 4 1 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671085465 9 37841617 CTG C 300 PASS DCAF10 CCDS6613.2 r.? - - Del intronic D 37841617 37841623 2 12 270.535 - - 2 1 1 DCAF10|CCDS6613.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCAF10|CCDS6613.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 3 4 4 25 19 25 19 4 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671115818 X 5088742 GA G 300 PASS - - - - - Del - D 5088742 5088745 1 12 270.731 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 3 3 4 17 22 17 22 3 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671116998 X 8900965 CT C 420 PASS - - - - - Del - D 8900965 8900974 1 20 379.023 - - 8 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 3 4 3 4 32 22 32 22 3 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671118791 X 15085774 G GA 300 PASS - - - - - Ins - I 15085774 15085783 1 12 267.72 - - 8 1 1 - - ./. 0 0 0 0 18 22 19 23 0 0 ./. 2 3 3 3 32 35 32 35 3 3 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671123095 X 30422483 TC T 480 PASS - - - - - Del - D 30422483 30422487 1 24 433.169 - - 3 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 3 6 4 16 30 16 30 6 4 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671123572 X 31860628 GA G 360 PASS DMD CCDS14233.1 r.? - - Del intronic D 31860628 31860636 1 15 324.877 - - 7 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 2 6 2 23 15 23 15 6 2 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671129426 X 55293646 TG T 540 PASS PAGE3 CCDS35307.1 r.? - - Del upstream D 55293646 55293651 1 24 486.713 - - 4 1 1 PAGE3|CCDS35307.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PAGE3|CCDS35307.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 7 3 9 22 24 22 24 3 9 1 1 1 1 1 1 1 1 2586348 PD13769a PD13769b 2671142505 X 112674961 TTC T 286 PASS - - - - - Del - D 112674961 112674967 2 10 270.731 - - 2 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 1 5 1 30 17 30 17 5 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453605914 1 37256901 TG T 360 PASS GRIK3 CCDS416.1 r.? - - Del downstream D 37256901 37256906 1 12 322.516 - - 4 1 1 GRIK3|CCDS416.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 GRIK3|CCDS416.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 4 8 4 0 0 ./. 1 5 2 7 24 29 24 29 2 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453605917 1 37311317 GGACCTTGGACCTGAGGCCTTGGCTTCAACCAGTTA G 261 PASS GRIK3 CCDS416.1 r.? - - Del intronic D 37311317 37311355 35 30 483.774 - - 1 1 1 GRIK3|CCDS416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIK3|CCDS416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 5 3 3 34 20 35 22 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453606057 1 37886476 A AC 300 PASS - - - - - Ins - I 37886476 37886485 1 12 263.947 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 4 3 9 20 9 20 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453607225 1 40813363 A AT 300 PASS SMAP2 ENST00000435168 r.? - - Ins intronic I 40813363 40813371 1 12 265.753 - - 7 1 1 SMAP2|ENST00000435168|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SMAP2|ENST00000435168|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 2 3 2 5 15 16 15 16 2 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453610088 1 48760316 ACTCCAT A 261 PASS SPATA6 CCDS551.1 r.? - - Del downstream D 48760316 48760328 6 30 482.57 - - 1 1 1 SPATA6|CCDS551.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SPATA6|CCDS551.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 5 6 5 27 27 27 27 6 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453610365 1 50074451 CT C 480 PASS AGBL4 CCDS44137.1 r.? - - Del intronic D 50074451 50074453 1 21 425.205 - - 1 1 1 AGBL4|CCDS44137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGBL4|CCDS44137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 6 2 9 16 31 16 31 2 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453612194 1 55737663 CTCAGATGGTA C 348 PASS - - - - - Del - D 55737663 55737675 10 49 645.031 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 6 6 7 7 25 25 25 26 7 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453616532 1 68637149 G GA 372 PASS WLS CCDS642.1 r.? - - Ins intronic I 68637149 68637159 1 20 370.85 - - 9 1 1 WLS|CCDS642.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WLS|CCDS642.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 18 7 19 0 0 ./. 4 3 7 5 46 23 46 23 7 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453623152 1 88705555 G GA 480 PASS - - - - - Ins - I 88705555 88705565 1 21 424.602 - - 9 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 6 2 7 37 22 37 23 2 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453639097 1 151709851 TCCCTC T 329 PASS - - - - - Del - D 151709851 151709859 5 12 322.516 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 5 1 6 18 22 18 22 1 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453642509 1 161896756 G GT 360 PASS ATF6 CCDS1235.1 r.? - - Ins intronic I 161896756 161896766 1 12 318.903 - - 9 1 1 ATF6|CCDS1235.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATF6|CCDS1235.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 16 17 0 0 ./. 5 1 8 4 41 32 41 32 8 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453645416 1 169582793 CA C 1200 PASS SELP CCDS1282.1 r.? - - Del intronic D 169582793 169582798 1 120 1073.25 - - 4 1 1 SELP|CCDS1282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SELP|CCDS1282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 11 9 16 10 36 36 36 36 16 10 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453645460 1 169691267 GGT G 300 PASS SELE CCDS1283.1 r.? - - Del downstream D 169691267 169691287 2 10 268.763 - - 9 1 - SELE|CCDS1283.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SELE|CCDS1283.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 14 5 14 0 0 ./. 1 4 2 4 39 30 39 30 2 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453645765 1 170421342 CGT C 300 PASS - - - - - Del - D 170421342 170421361 2 12 268.763 - - 9 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 3 2 5 34 37 34 37 2 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453645929 1 170783586 T TA 341 PASS - - - - - Ins - I 170783586 170783594 1 15 317.699 - - 7 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 4 3 6 46 59 46 60 3 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453646813 1 172617908 G GA 360 PASS - - - - - Ins - I 172617908 172617918 1 15 318.903 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 2 4 2 69 44 70 44 4 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453649089 1 178272735 C CA 780 PASS RASAL2 CCDS1321.1 r.? - - Ins intronic I 178272735 178272742 1 56 690.957 - - 6 1 1 RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 6 7 7 8 47 50 47 50 7 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453652842 1 184764098 CA C 360 PASS FAM129A CCDS1364.1 r.2993delU c.? p.? Del 3'UTR variant D 184764098 184764102 1 15 322.516 - - 3 1 1 FAM129A|CCDS1364.1|r.2993delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 FAM129A|CCDS1364.1|r.2993delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 4 2 4 49 47 49 47 2 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453655980 1 190609953 G GA 420 PASS - - - - - Ins - I 190609953 190609963 1 14 370.85 - - 9 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 1 6 1 6 57 83 57 83 1 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453656675 1 191952673 GCTGCA G 329 PASS - - - - - Del - D 191952673 191952679 5 15 321.914 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 4 2 4 60 49 60 49 2 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453659743 1 198090366 AGCAACCATTTGAATGAGTCACTCCACACCCAGGCCTCCCTG A 261 PASS - - - - - Del - D 198090366 198090409 41 30 483.774 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 5 1 4 53 49 56 50 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453662984 1 204273682 G GA 420 PASS PLEKHA6 CCDS1444.1 r.? - - Ins intronic I 204273682 204273688 1 20 372.054 - - 5 1 1 PLEKHA6|CCDS1444.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PLEKHA6|CCDS1444.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 4 3 5 45 46 45 46 3 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453663487 1 205321504 TAC T 300 PASS KLHDC8A CCDS30985.1 r.? - - Del intronic D 205321504 205321522 2 12 268.161 - - 8 1 - KLHDC8A|CCDS30985.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KLHDC8A|CCDS30985.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 9 3 9 0 0 ./. 3 2 3 2 29 33 29 33 3 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453664481 1 207776956 AT A 660 PASS CR1 CCDS44308.1 r.? - - Del intronic D 207776956 207776961 1 42 591.279 - - 4 1 1 CR1|CCDS44308.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CR1|CCDS44308.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 5 8 5 39 39 39 39 8 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453664846 1 208805464 GGTTAACAGTAATTCTTACATCACAGGGCCATTGA G 290 PASS - - - - - Del - D 208805464 208805499 34 20 537.526 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 9 0 7 28 43 29 45 1 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453670652 1 222598349 G GGTTAACT 464 PASS - - - - - Ins - I 222598349 222598352 7 80 792.611 - - 0 1 1 - - ./. 0 0 0 0 7 14 8 14 0 0 ./. 9 7 8 6 39 30 41 32 9 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453670653 1 222598489 TGCACAGG T 290 PASS - - - - - Del - D 222598489 222598500 7 35 536.322 - - 1 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 6 4 6 5 26 23 26 23 6 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453671016 1 223595479 TAGT TA 269 PASS - - - - - Complex - DI 223595480 223595482 3 10 0 - - 0 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 1 4 0 0 26 39 26 39 1 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453672468 1 226464931 A AC 360 PASS LIN9 CCDS1553.1 r.? - - Ins intronic I 226464931 226464932 1 15 315.893 - - 0 1 - LIN9|CCDS1553.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LIN9|CCDS1553.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 8 9 0 0 ./. 2 4 2 4 35 36 36 37 2 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453674718 1 231823970 ATG A 300 PASS DISC1 CCDS31056.1 r.? - - Del intronic D 231823970 231823988 2 10 268.763 - - 8 1 1 DISC1|CCDS31056.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DISC1|CCDS31056.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 1 4 1 4 22 37 22 37 1 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453677276 1 237058499 C CA 300 PASS MTR CCDS1614.1 r.? - - Ins intronic I 237058499 237058502 1 6 265.753 - - 2 1 1 MTR|CCDS1614.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTR|CCDS1614.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 5 0 5 0 33 26 33 27 5 0 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453677883 1 238320054 C CA 300 PASS - - - - - Ins - I 238320054 238320061 1 10 265.753 - - 6 1 1 - - ./. 0 0 0 0 16 9 16 10 0 0 ./. 4 1 5 2 54 22 55 22 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453678972 1 240752756 GA G 360 PASS GREM2 CCDS31070.1 r.? - - Del intronic D 240752756 240752765 1 12 322.516 - - 8 1 - GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 1 5 1 6 23 38 23 38 1 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453679341 1 241544884 C CA 254 PASS - - - - - Ins - I 241544884 241544892 1 12 265.753 - - 7 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 2 3 45 35 47 35 2 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453682461 1 247691422 GACTCATAATAATGTTATCATGTGTCTCTGACTCCTAGAGT G 319 PASS OR2C3 CCDS1634.2 r.? - - Del downstream D 247691422 247691465 40 30 591.279 - - 1 1 1 OR2C3|CCDS1634.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C1orf150|ENST00000366491|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 9 2 5 25 18 25 22 2 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453686848 10 8445160 AT A 300 PASS - - - - - Del - D 8445160 8445170 1 12 270.083 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 3 6 17 32 17 32 3 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453697965 10 37142670 A AC 540 PASS - - - - - Ins - I 37142670 37142671 1 28 480.731 - - 0 1 1 - - ./. 0 0 0 0 12 10 13 10 0 0 ./. 3 6 4 7 24 20 25 21 4 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453700673 10 45207450 AAG A 300 PASS - - - - - Del - D 45207450 45207469 2 12 270.083 - - 9 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 3 2 3 2 18 22 18 22 3 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453701945 10 51501305 AC A 360 PASS AL442003.3 ENST00000505015 r.? - - Del intronic D 51501305 51501310 1 16 324.1 - - 4 1 1 AL442003.3|ENST00000505015|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL442003.3|ENST00000505015|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 3 3 4 3 10 14 10 14 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453710457 10 74642978 G GT 300 PASS CCDC109A CCDS7317.1 r.? - - Ins intronic I 74642978 74642982 1 12 267.073 - - 3 1 1 CCDC109A|CCDS7317.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC109A|CCDS7317.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 2 4 2 24 13 25 13 4 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453716512 10 93179030 G GAA 360 PASS HECTD2 CCDS7414.1 r.? - - Ins intronic I 93179030 93179036 2 15 316.875 - - 5 1 1 HECTD2|CCDS7414.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HECTD2|CCDS7414.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 2 4 2 6 34 35 34 35 2 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453717648 10 95661269 A AT 360 PASS TMEM20 CCDS44459.1 r.1181_1182insu c.? p.? Ins 3'UTR variant I 95661269 95661277 1 7 320.487 - - 7 1 1 TMEM20|CCDS44459.1|r.1181_1182insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 TMEM20|CCDS44459.1|r.1181_1182insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 13 10 13 10 0 0 ./. 0 6 2 7 18 34 19 34 2 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453718032 10 97090286 GAAAT G 300 PASS SORBS1 CCDS31255.1 r.? - - Del intronic D 97090286 97090292 4 6 270.083 - - 1 1 1 SORBS1|CCDS31255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORBS1|CCDS31255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 5 0 5 0 30 21 30 21 5 0 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453720521 10 104034967 G GT 389 PASS GBF1 CCDS7533.1 r.? - - Ins intronic I 104034967 104034974 1 20 372.698 - - 6 1 1 GBF1|CCDS7533.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GBF1|CCDS7533.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 3 5 4 21 20 21 20 5 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453722952 10 111101803 AG A 300 PASS - - - - - Del - D 111101803 111101805 1 12 270.083 - - 1 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 3 2 4 3 17 22 17 22 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453722970 10 111188011 CA C 420 PASS - - - - - Del - D 111188011 111188015 1 18 378.116 - - 3 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 5 2 6 3 31 23 31 23 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453725781 10 119371196 AC A 360 PASS - - - - - Del - D 119371196 119371204 1 16 315.069 - - 7 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 3 5 3 19 19 19 19 5 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453725939 10 119856979 CA C 420 PASS - - - - - Del - D 119856979 119856989 1 18 378.116 - - 9 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 5 3 5 25 23 25 23 3 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453726771 10 121960861 CCTTCCA C 319 PASS - - - - - Del - D 121960861 121960869 6 40 594.183 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 7 4 8 4 30 20 30 20 8 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453738460 11 20176453 GCCTGCACCT G 348 PASS DBX1 CCDS31443.1 r.? - - Del downstream D 20176453 20176464 9 40 648.839 - - 1 1 1 DBX1|CCDS31443.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DBX1|CCDS31443.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 7 14 7 0 0 ./. 9 3 9 3 26 10 26 10 9 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453745429 11 39002789 AAATAGGAGAAAAGCTTCTTTAAATTGTTGAT A 290 PASS - - - - - Del - D 39002789 39002822 31 36 541.201 - - 1 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 5 5 5 5 29 24 29 24 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453748171 11 47161552 ACCAGCT A 261 PASS C11orf49 CCDS41641.1 r.? - - Del intronic D 47161552 47161561 6 24 486.479 - - 1 1 1 C11orf49|CCDS41641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C11orf49|CCDS41641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 4 13 4 0 0 ./. 2 7 2 7 22 25 22 25 2 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453749034 11 49022100 GT G 295 PASS - - - - - Del - D 49022100 49022104 1 16 324.721 - - 3 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 3 5 5 20 29 20 29 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453749676 11 55284516 AT A 327 PASS - - - - - Del - D 55284516 55284522 1 15 324.721 - - 5 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 4 2 5 19 25 19 25 2 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453760997 11 88604131 TG T 360 PASS GRM5 CCDS44694.1 r.? - - Del intronic D 88604131 88604134 1 12 324.721 - - 2 1 1 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 5 1 6 3 33 18 33 18 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453765010 11 101019053 G GT 420 PASS - - - - - Ins - I 101019053 101019061 1 20 374.626 - - 7 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 4 5 5 16 16 17 16 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453769413 11 115430863 TC T 540 PASS - - - - - Del - D 115430863 115430866 1 18 487.081 - - 2 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 8 1 9 3 24 23 24 23 9 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453772786 11 126599878 CT C 300 PASS - - - - - Del - D 126599878 126599883 1 12 270.601 - - 4 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 3 4 4 13 16 13 16 4 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453776338 12 3261097 C CA 540 PASS TSPAN9 CCDS8520.1 r.? - - Ins intronic I 3261097 3261106 1 18 481.333 - - 8 1 1 TSPAN9|CCDS8520.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TSPAN9|CCDS8520.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 1 8 4 10 31 29 31 29 4 10 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453781345 12 15272453 T TA 300 PASS RERG CCDS8673.1 r.? - - Ins intronic I 15272453 15272455 1 12 267.407 - - 1 1 1 RERG|CCDS8673.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RERG|CCDS8673.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 2 4 2 27 24 28 24 4 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453781938 12 17341675 CGT C 300 PASS - - - - - Del - D 17341675 17341691 2 12 270.418 - - 7 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 3 3 4 33 30 33 30 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453782562 12 19222817 T TA 269 PASS - - - - - Ins - I 19222817 19222826 1 12 267.407 - - 8 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 2 3 6 23 27 23 27 3 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453783004 12 20052701 GT G 540 PASS - - - - - Del - D 20052701 20052710 1 24 486.752 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 7 2 8 5 28 22 28 22 8 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453783541 12 21225539 TG T 420 PASS ENSG00000205754 CCDS44843.1 r.? - - Del intronic D 21225539 21225543 1 20 377.38 - - 3 1 1 ENSG00000205754|CCDS44843.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000205754|CCDS44843.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 4 5 5 23 29 23 29 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453786215 12 28162237 GACA GAT 420 PASS - - - - - Complex - DI 28162238 28162240 3 20 0 - - 0 1 - - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 3 0 0 33 17 33 17 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453791241 12 45401926 ATCATGTGAGCCAATTCCCATAATAAATCTCCTC A 261 PASS - - - - - Del - D 45401926 45401966 33 30 486.15 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 5 1 3 15 33 18 35 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453791492 12 46258102 GA G 420 PASS ARID2 CCDS31783.1 r.? - - Del intronic D 46258102 46258110 1 18 377.38 - - 7 1 1 ARID2|CCDS31783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARID2|CCDS31783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 5 3 5 14 20 14 20 3 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453792223 12 48465974 TA T 480 PASS SENP1 CCDS44868.1 r.? - - Del intronic D 48465974 48465980 1 24 432.668 - - 5 1 1 SENP1|CCDS44868.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SENP1|CCDS44868.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 3 5 3 29 14 29 14 5 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453795958 12 58027874 C CCA 300 PASS B4GALNT1 CCDS8950.1 r.? - - Ins upstream I 58027874 58027876 2 6 263.795 - - 0 1 1 B4GALNT1|CCDS8950.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 B4GALNT1|CCDS8950.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 3 7 3 7 0 0 ./. 0 5 0 8 8 15 8 17 0 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453796550 12 60192295 ACTCAG A 255 PASS - - - - - Del - D 60192295 60192304 5 16 324.501 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 3 4 19 20 19 20 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453798026 12 64823320 TCAAG T 325 PASS XPOT CCDS31852.1 r.? - - Del intronic D 64823320 64823327 4 24 432.668 - - 1 1 1 XPOT|CCDS31852.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XPOT|CCDS31852.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 3 5 3 5 20 21 20 21 3 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453800533 12 71336265 T TA 300 PASS - - - - - Ins - I 71336265 71336274 1 12 267.407 - - 8 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 2 3 4 30 25 30 25 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453801125 12 73188712 TATTCAG TGAA 329 PASS - - - - - Complex - DI 73188713 73188718 6 16 0 - - 0 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 0 0 23 26 23 26 3 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453801653 12 74801727 TG T 420 PASS - - - - - Del - D 74801727 74801730 1 18 378.585 - - 2 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 5 2 6 3 33 33 33 33 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453803857 12 80816246 TAAA T 629 PASS - - - - - Del - D 80816246 80816250 3 42 594.919 - - 3 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 5 7 6 25 30 25 30 7 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453804498 12 82712710 G GT 480 PASS - - - - - Ins - I 82712710 82712720 1 24 427.852 - - 9 1 1 - - ./. 0 0 0 0 8 14 9 14 0 0 ./. 5 3 5 6 30 29 30 31 6 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453804933 12 84059340 TAATTATGGATGACAAA T 348 PASS - - - - - Del - D 84059340 84059360 16 48 647.196 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 7 5 10 19 35 19 35 5 10 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453805376 12 85208074 TGTGTCAGTTAGCAATCTAGCCCAGGG T 290 PASS - - - - - Del - D 85208074 85208103 26 35 540.835 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 6 4 5 26 23 26 24 4 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453806410 12 88483808 G GT 269 PASS CEP290 ENST00000309041 r.? - - Ins intronic I 88483808 88483818 1 10 265.601 - - 9 1 1 CEP290|ENST00000309041|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CEP290|ENST00000309041|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 16 7 16 0 0 ./. 1 4 1 4 34 29 34 29 1 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453807497 12 91722958 T TG 300 PASS - - - - - Ins - I 91722958 91722960 1 10 267.407 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 4 1 4 24 35 25 35 1 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453812495 12 104947502 GT G 540 PASS CHST11 CCDS9099.1 r.? - - Del intronic D 104947502 104947504 1 28 486.752 - - 1 1 1 CHST11|CCDS9099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHST11|CCDS9099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 6 3 6 4 24 24 24 24 6 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453819747 12 124534735 GCCT GA 418 PASS - - - - - Complex - DI 124534736 124534738 3 21 0 - - 0 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 2 6 0 0 11 24 11 24 2 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453821618 12 129477356 T TA 300 PASS - - - - - Ins - I 129477356 129477357 1 12 267.407 - - 0 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 2 3 2 14 29 14 29 3 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453825449 13 24310052 C CA 300 PASS MIPEP CCDS9303.1 r.? - - Ins intronic I 24310052 24310061 1 12 267.841 - - 8 1 1 MIPEP|CCDS9303.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MIPEP|CCDS9303.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 4 3 21 17 22 20 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453831410 13 39881901 A AT 480 PASS - - - - - Ins - I 39881901 39881908 1 24 383.391 - - 6 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 5 3 8 4 30 24 30 24 8 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453832658 13 43226165 T TA 540 PASS - - - - - Ins - I 43226165 43226174 1 30 480.909 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 5 4 4 20 29 20 29 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453833448 13 45462946 A AT 660 PASS - - - - - Ins - I 45462946 45462955 1 42 586.239 - - 8 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 6 5 9 12 21 27 21 27 9 12 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453835832 13 52525878 GCACAAGTAGTTC G 290 PASS ATP7B CCDS41892.1 r.? - - Del intronic D 52525878 52525895 12 27 541.702 - - 1 1 1 ATP7B|CCDS41892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP7B|CCDS41892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 8 2 9 4 22 14 22 14 9 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453848273 13 87919753 A AT 929 PASS - - - - - Ins - I 87919753 87919760 1 80 857.09 - - 6 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 9 7 11 10 44 40 44 40 11 10 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453849035 13 89977991 T TCTTAC 420 PASS - - - - - Ins - I 89977991 89978005 5 18 358.119 - - 2 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 2 5 2 8 37 50 37 50 2 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453852462 13 98000486 A AT 540 PASS MBNL2 CCDS9484.1 r.? - - Ins intronic I 98000486 98000495 1 28 482.113 - - 8 1 1 MBNL2|CCDS9484.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MBNL2|CCDS9484.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 3 6 3 6 34 39 34 39 3 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453853058 13 99248006 C CA 569 PASS - - - - - Ins - I 99248006 99248011 1 35 535.681 - - 4 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 6 6 6 27 42 27 42 6 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453853725 13 100538939 AATGTCGT A 348 PASS CLYBL ENST00000376360 r.? - - Del intronic D 100538939 100538949 7 48 650.042 - - 1 1 1 CLYBL|ENST00000376360|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLYBL|ENST00000376360|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 7 5 11 6 31 23 31 23 11 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453854760 13 102969358 CT C 300 PASS FGF14 CCDS9500.1 r.? - - Del intronic D 102969358 102969366 1 12 270.851 - - 7 1 1 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 2 3 4 6 24 34 24 34 4 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453855362 13 104620904 GC G 420 PASS - - - - - Del - D 104620904 104620908 1 20 379.191 - - 3 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 3 5 3 34 32 34 32 5 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453856040 13 106382179 TTCTGCCCAATCAGAGGCTAACA T 261 PASS - - - - - Del - D 106382179 106382208 22 30 487.532 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 5 2 5 23 24 25 24 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453856053 13 106430010 AAAATCTTG A 307 PASS - - - - - Del - D 106430010 106430022 8 36 595.872 - - 1 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 8 3 10 4 41 22 41 22 10 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453856310 13 107023199 TC T 360 PASS - - - - - Del - D 107023199 107023202 1 16 325.021 - - 2 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 3 3 3 4 23 31 23 31 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453856615 13 107726470 GCCTGTCTGTTTGCAAA G 290 PASS - - - - - Del - D 107726470 107726489 16 35 541.1 - - 1 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 6 4 6 4 22 27 22 27 6 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453856710 13 107942546 A AG 329 PASS FAM155A CCDS32006.1 r.? - - Ins intronic I 107942546 107942547 1 16 319.001 - - 0 1 - FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 4 21 4 0 0 ./. 3 3 0 0 25 36 28 36 3 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453859775 14 20452347 AGGGTGTTGTGTCAAAAGAGAACAC A 276 PASS - - - - - Del - D 20452347 20452377 24 27 542.754 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 8 2 6 17 22 17 24 2 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453859805 14 20547942 AT A 545 PASS - - - - - Del - D 20547942 20547947 1 32 542.152 - - 4 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 7 3 10 3 32 24 32 24 10 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453861372 14 24355832 A AT 360 PASS - - - - - Ins - I 24355832 24355839 1 15 322.04 - - 6 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 2 5 2 23 16 23 16 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453865547 14 36196887 AT A 509 PASS RALGAPA1 CCDS32065.1 r.? - - Del intronic D 36196887 36196891 1 24 488.479 - - 3 1 1 RALGAPA1|CCDS32065.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RALGAPA1|CCDS32065.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 3 12 3 0 0 ./. 7 2 9 2 20 6 20 6 9 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453866041 14 37736705 A AG 360 PASS MIPOL1 CCDS9664.1 r.? - - Ins intronic I 37736705 37736706 1 15 320.234 - - 0 1 1 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 4 3 4 22 18 22 19 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453870797 14 51338694 CTG C 360 PASS ABHD12B CCDS45104.1 r.? - - Del upstream D 51338694 51338711 2 15 325.652 - - 8 1 1 ABHD12B|CCDS45104.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 AL358334.1|ENST00000501589|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 2 5 2 28 16 28 16 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453876589 14 68843920 AC A 298 PASS RAD51L1 CCDS9789.1 r.? - - Del intronic D 68843920 68843924 1 16 322.04 - - 3 1 1 RAD51L1|CCDS9789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAD51L1|CCDS9789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 6 4 21 20 21 20 6 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453882448 14 85221773 TTGCCTGC T 261 PASS - - - - - Del - D 85221773 85221785 7 28 488.479 - - 1 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 6 3 0 0 25 21 25 21 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453884003 14 89691179 T TA 480 PASS FOXN3 CCDS32138.1 r.? - - Ins intronic I 89691179 89691185 1 21 429.387 - - 5 1 1 FOXN3|CCDS32138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FOXN3|CCDS32138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 2 6 2 8 24 29 24 29 2 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453887096 14 98180425 AACAAAAT A 377 PASS - - - - - Del - D 98180425 98180439 7 50 703.172 - - 1 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 4 9 5 10 17 24 18 24 6 10 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453893499 15 27844278 CTA C 300 PASS - - - - - Del - D 27844278 27844282 2 12 271.135 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 3 3 4 18 26 18 26 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453896155 15 35374739 GTC G 420 PASS AC021231.2 ENST00000514460 r.? - - Del upstream D 35374739 35374745 2 8 378.384 - - 2 1 1 AC021231.2|ENST00000514460|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 AC021231.2|ENST00000514460|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 12 5 12 5 0 0 ./. 7 0 7 2 23 14 23 14 7 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453900824 15 49184469 AC A 300 PASS SHC4 CCDS10130.1 r.? - - Del intronic D 49184469 49184471 1 12 264.512 - - 1 1 1 SHC4|CCDS10130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHC4|CCDS10130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 4 3 37 19 37 19 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453906573 15 62920764 CTA C 329 PASS - - - - - Del - D 62920764 62920770 2 7 325.362 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 0 6 0 7 31 32 31 32 0 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453909803 15 69484580 ATG A 360 PASS GLCE CCDS32277.1 r.? - - Del intronic D 69484580 69484598 2 12 325.362 - - 8 1 1 GLCE|CCDS32277.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GLCE|CCDS32277.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 5 1 5 35 31 35 31 1 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453911910 15 74892035 T TTGCTGTCTCTTCCG 269 PASS ARID3B CCDS10264.1 r.? - - Ins downstream I 74892035 74892041 14 30 412.183 - - 0 1 1 ARID3B|CCDS10264.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ARID3B|CCDS10264.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 5 0 0 23 31 26 34 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453911911 15 74892343 GC G 269 PASS ARID3B CCDS10264.1 r.? - - Del downstream D 74892343 74892346 1 12 269.93 - - 2 1 1 ARID3B|CCDS10264.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ARID3B|CCDS10264.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 11 5 11 0 0 ./. 2 3 3 5 25 32 25 32 3 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453912341 15 75973040 CAGA C 269 PASS CSPG4 CCDS10284.1 r.? - - Del intronic D 75973040 75973046 3 6 271.135 - - 1 1 1 CSPG4|CCDS10284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000203392|ENST00000435356|r.2370_2372delAGA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 0 5 0 29 17 29 17 5 0 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453913031 15 77798386 A AC 960 PASS - - - - - Ins - I 77798386 77798394 1 80 850.171 - - 7 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 7 9 11 10 17 32 17 32 11 10 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453914111 15 80387124 TG T 360 PASS ZFAND6 CCDS10313.1 r.? - - Del intronic D 80387124 80387126 1 12 321.147 - - 1 1 1 ZFAND6|CCDS10313.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZFAND6|CCDS10313.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 1 6 2 30 20 30 20 6 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453921680 15 98628084 G GTATATATATACATATATATACATATATATATACGTATATA 261 PASS - - - - - Ins - I 98628084 98628099 40 30 271.301 - - 0 1 - - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 4 0 0 20 24 25 28 5 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453933293 16 20705240 AAAAGCAAAATTTATTC A 319 PASS ACSM1 CCDS10587.1 r.? - - Del upstream D 20705240 20705261 16 40 596.344 - - 1 1 1 ACSM1|CCDS10587.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ACSM1|CCDS10587.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 7 4 7 56 36 56 36 4 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453933349 16 20810751 GA G 360 PASS ERI2 CCDS45436.1 r.? - - Del intronic D 20810751 20810757 1 15 325.279 - - 5 1 1 ERI2|CCDS45436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERI2|CCDS45436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 4 4 5 30 26 30 26 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453936956 16 28234134 G GT 269 PASS - - - - - Ins - I 28234134 28234144 1 12 268.055 - - 9 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 2 4 3 24 23 24 23 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453938465 16 31929130 TTAG T 300 PASS ZNF267 CCDS32440.1 r.? - - Del downstream D 31929130 31929136 3 6 271.066 - - 1 1 1 ZNF267|CCDS32440.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF267|CCDS32440.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 16 17 16 0 0 ./. 5 0 6 3 37 28 37 28 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453938468 16 31931989 TA T 269 PASS ZNF267 CCDS32440.1 r.? - - Del downstream D 31931989 31931995 1 12 271.066 - - 5 1 1 ZNF267|CCDS32440.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF267|CCDS32440.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 12 6 12 0 0 ./. 2 3 3 4 12 26 12 26 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453940782 16 34607307 CA C 660 PASS ENSG00000237113 ENST00000425453 r.? - - Del intronic D 34607307 34607312 1 42 596.344 - - 4 1 1 ENSG00000237113|ENST00000425453|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237113|ENST00000425453|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 5 6 5 9 36 56 36 56 5 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453942317 16 49507475 ACTTGACCATCTTTCCAGGTGGGTC A 377 PASS - - - - - Del - D 49507475 49507503 24 54 700.556 - - 1 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 8 5 5 4 25 17 28 18 8 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453946824 16 62251894 AT A 720 PASS - - - - - Del - D 62251894 62251904 1 45 650.557 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 8 6 11 21 17 21 17 6 11 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453947346 16 63792254 AACAAGTAAGTATGATACGTC A 290 PASS - - - - - Del - D 63792254 63792278 20 11 542.131 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 10 0 7 0 29 24 31 24 10 0 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453950987 16 73935719 CT C 269 PASS - - - - - Del - D 73935719 73935721 1 10 271.066 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 1 4 2 26 21 26 21 4 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453955363 16 85135139 TACAGATAACGCAA T 290 PASS FAM92B CCDS32500.1 r.? - - Del intronic D 85135139 85135157 13 27 541.529 - - 1 1 1 FAM92B|CCDS32500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM92B|CCDS32500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 2 8 2 9 17 18 17 18 2 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453959087 17 4890969 CT C 600 PASS CAMTA2 CCDS11063.1 r.? - - Del upstream D 4890969 4890971 1 35 541.697 - - 1 1 1 CAMTA2|CCDS11063.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CAMTA2|CCDS11063.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 8 8 8 0 0 ./. 6 4 6 8 11 20 11 20 6 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453962698 17 14456286 CT C 360 PASS - - - - - Del - D 14456286 14456291 1 15 321.165 - - 4 1 - - - ./. 0 0 0 0 10 3 10 3 0 0 ./. 4 2 7 4 27 19 27 19 7 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453965930 17 21755859 G GA 358 PASS - - - - - Ins - I 21755859 21755863 1 8 349.507 - - 3 1 - - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 0 7 0 1 23 27 25 27 0 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453967382 17 27839229 ATGCC A 300 PASS TAOK1 CCDS32601.1 r.? - - Del intronic D 27839229 27839236 4 10 270.548 - - 1 1 1 TAOK1|CCDS32601.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TAOK1|CCDS32601.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 1 4 1 4 13 25 13 25 1 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453968832 17 31550591 AATTAATTAGTGTACTTTGTGAAAAGAGTTCCAGCATGGCTTCAAAAAGGGAATCTGACTGGCGCATTTAAATATTTCCTTATATAATATTTGGTATCAAGCCAAAGAGCTTTGAGACAAAGGAGCCTAAAATGGAAGTGTTAAGGTCACCACCATTACGGCTCTCTTAGAAATGGGGTGGCAGTATTGCAGAGAAGACGGACAGTGCGAGTGAAGCGCAGCACCCCAAATCTTACTAGGAGCCTCCTCCATGCCGGATGCTTTGCTAGGACCTACATGGGGCCGGGATCACAGAGAGTAGAGACCTAGACTCTGTCTTAGAGGGACAGGGTTTGCTGGGAGAAGATAAGTCAAAGGGCAATGAAGTCCTGGTCACAGACACCAGATTTTTGCACATGACATTAGAAAGGACAGGGATCTGCAGGCACCTCCATTTGATTTCTTTTCAAGGATTTTACTAATAGACCAGCTTCTGGGAAAGGGCTCTCATTGTGGACTACATGAGGCTTGGACACGTTGTCTCAATATGGAAAACAACTTCAGATGCAAGCCAAGAACACAGGGTCAGGTGTTGTGCATGTAAGCTTGGCAAATCCTATCATAAAACCAATGGGGCTGTGTTAGAATTGGCGTTCTCTCTGTCTTGTGTTAATTATTATGCACTTGCTTTCTGGGCTTTGAATTATTCATGAGGCCAGATATAAAATACGATGATTATTGGTAATCTCCAGCTGTGGCACCTGAATGTGCAGAGACGCCACATCTGTTTCTGAAAACTATGGTCTGGGCTAAGGAACTTAGTGTGCTTTGGAGGAGCAGAAGGTGGCAGAGAGGGGAGGAGAGTGGTCAGAGGAGTGAGATCAAGAGGAGAAAGGTAAAGTGATGTTGCTCTCAGAGAAGGTGGAAGTGTGTCG A 261 PASS ACCN1 CCDS11276.1 r.? - - Del intronic D 31550591 31551507 913 28 488.069 - - 1 1 1 ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 6 0 0 26 25 29 31 3 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453981072 17 61587016 AGGCCAACCGATG A 261 PASS - - - - - Del - D 61587016 61587032 12 24 488.069 - - 1 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 7 3 7 31 29 31 29 3 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453981818 17 63285829 G GA 269 PASS - - - - - Ins - I 63285829 63285839 1 10 236.832 - - 9 1 - - - ./. 0 0 0 0 13 11 14 11 0 0 ./. 1 4 2 6 60 47 61 47 2 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453982025 17 63832115 G GT 569 PASS CCDC46 CCDS32710.1 r.? - - Ins intronic I 63832115 63832123 1 32 536.279 - - 7 1 1 CCDC46|CCDS32710.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC46|CCDS32710.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 7 20 7 0 0 ./. 3 7 4 7 43 47 44 47 4 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453982672 17 64889969 G GA 300 PASS - - - - - Ins - I 64889969 64889979 1 12 268.139 - - 9 1 1 - - ./. 0 0 0 0 18 15 18 17 0 0 ./. 2 3 3 3 35 45 35 45 3 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453992562 18 3803192 A AC 300 PASS DLGAP1 CCDS11836.1 r.? - - Ins intronic I 3803192 3803200 1 12 267.293 - - 7 1 1 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 3 2 17 14 18 14 3 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453994488 18 9412150 TA T 720 PASS - - - - - Del - D 9412150 9412153 1 45 651.618 - - 2 1 1 - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 4 8 4 9 17 21 17 21 4 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453994766 18 9956964 T TA 300 PASS VAPA CCDS11848.2 r.3761_3762insa c.? p.? Ins 3'UTR variant I 9956964 9956974 1 12 268.497 - - 9 1 1 VAPA|CCDS11848.2|r.3761_3762insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 VAPA|CCDS11848.2|r.3761_3762insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 3 3 28 23 28 24 3 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453997220 18 18862236 TA T 360 PASS GREB1L CCDS45836.1 r.? - - Del intronic D 18862236 18862246 1 15 325.809 - - 9 1 1 GREB1L|CCDS45836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GREB1L|CCDS45836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 4 2 5 10 20 10 20 2 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2453998597 18 22866300 CCAAAATGGATAATTATTAAATGAA C 290 PASS ZNF521 CCDS32806.1 r.? - - Del intronic D 22866300 22866327 24 36 543.015 - - 1 1 1 ZNF521|CCDS32806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF521|CCDS32806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 5 5 4 5 22 26 23 26 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454000874 18 30025822 CA C 389 PASS FAM59A CCDS11905.1 r.? - - Del intronic D 30025822 30025832 1 20 380.111 - - 9 1 1 FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM59A|CCDS11905.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 3 5 4 21 23 21 23 5 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454001414 18 32332765 C CA 720 PASS DTNA CCDS45848.1 r.? - - Ins intronic I 32332765 32332774 1 48 643.791 - - 8 1 1 DTNA|CCDS45848.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 DTNA|CCDS45848.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 7 5 8 17 30 17 30 5 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454004091 18 41084800 GTTTGAGACTATCTTCTCCCATCCTGTAGA G 319 PASS - - - - - Del - D 41084800 41084834 29 40 597.317 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 7 2 4 27 11 29 14 4 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454008979 18 55888773 A AT 660 PASS NEDD4L CCDS45875.1 r.7_8insu c.? p.? Ins 5'UTR variant I 55888773 55888775 1 36 585.276 - - 1 1 1 NEDD4L|CCDS45875.1|r.7_8insu|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 NEDD4L|CCDS45875.1|r.7_8insu|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 15 19 16 19 0 0 ./. 3 8 4 9 23 28 23 29 4 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454010957 18 61476861 CCT C 600 PASS SERPINB7 CCDS11988.1 r.? - - Del downstream D 61476861 61476868 2 27 543.015 - - 3 1 1 SERPINB7|CCDS11988.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SERPINB7|CCDS11988.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 11 12 11 0 0 ./. 8 2 9 4 24 23 24 23 9 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454013467 18 67754364 TA T 300 PASS RTTN CCDS42443.1 r.? - - Del intronic D 67754364 67754370 1 12 271.508 - - 5 1 1 RTTN|CCDS42443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RTTN|CCDS42443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 2 4 4 23 24 23 24 4 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454016419 18 75951995 A ACT 480 PASS - - - - - Ins - I 75951995 75952006 2 25 424.779 - - 5 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 4 4 4 21 33 21 34 4 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454020312 19 7653476 GCGT G 269 PASS - - - - - Del - D 7653476 7653481 3 12 271.717 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 3 4 31 23 31 23 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454021172 19 9279103 CTT C 269 PASS - - - - - Del - D 9279103 9279108 2 12 262.084 - - 4 1 1 - - ./. 0 0 0 0 6 4 6 4 0 0 ./. 2 3 2 7 7 13 8 13 3 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454025674 19 19431571 GCGGCAGATCTCGCGGAAGCCGCGAGGAGAGCC G 377 PASS KIAA0892 CCDS32969.2 r.? - - Del upstream D 19431571 19431608 32 56 701.647 - - 1 1 1 KIAA0892|CCDS32969.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KIAA0892|CCDS32969.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 3 12 3 0 0 ./. 6 7 5 5 19 14 20 16 6 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454029992 19 32530792 A AT 600 PASS AC005547.1 ENST00000504888 r.? - - Ins intronic I 32530792 32530794 1 32 537.412 - - 1 1 1 AC005547.1|ENST00000504888|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC005547.1|ENST00000504888|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 7 3 9 5 29 30 29 30 9 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454032911 19 38845470 ACTTCGGGAC A 261 PASS CATSPERG CCDS12514.2 r.1822_1830delCUUCGGGAC c.1119_1127delCTTCGGGAC p.F374_T376delFGT Del inframe D 38845470 38845481 9 18 489.09 - - 1 1 1 CATSPERG|CCDS12514.2|r.1822_1830delCUUCGGGAC|c.1119_1127delCTTCGGGAC|p.F374_T376delFGT|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 CATSPERG|CCDS12514.2|r.1822_1830delCUUCGGGAC|c.1119_1127delCTTCGGGAC|p.F374_T376delFGT|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 10 8 10 8 0 0 ./. 8 1 10 1 21 20 21 20 10 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454034462 19 42969956 C CTCTT 269 PASS ENSG00000213904 ENST00000457234 r.? - - Ins intronic I 42969956 42969970 4 10 256.665 - - 3 1 1 ENSG00000213904|ENST00000457234|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ENSG00000213904|ENST00000457234|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 4 1 4 1 23 20 23 20 4 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454034463 19 42971095 GT G 600 PASS ENSG00000213904 ENST00000457234 r.? - - Del intronic D 42971095 42971100 1 35 541.025 - - 4 1 1 ENSG00000213904|ENST00000457234|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ENSG00000213904|ENST00000457234|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 4 10 5 22 25 22 25 10 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454036583 19 47887225 T TA 360 PASS DHX34 CCDS12700.1 r.? - - Ins downstream I 47887225 47887232 1 15 322.448 - - 6 1 1 DHX34|CCDS12700.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 DHX34|CCDS12700.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 4 4 4 18 18 18 18 4 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454042273 2 859473 GC G 329 PASS - - - - - Del - D 859473 859479 1 7 298.387 - - 5 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 0 6 3 9 13 15 13 15 3 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454043674 2 5569639 G GGT 269 PASS - - - - - Ins - I 5569639 5569640 2 6 260.797 - - 0 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 0 5 2 0 30 24 30 24 2 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454044522 2 8318159 T TA 300 PASS - - - - - Ins - I 8318159 8318168 1 12 266.216 - - 8 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 3 4 3 27 18 27 20 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454048001 2 18600832 CA C 720 PASS - - - - - Del - D 18600832 18600838 1 49 643.133 - - 5 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 6 6 9 22 30 22 30 6 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454052134 2 30858885 AATGAGGTTATCAGTGTACGTGCTTTAAGCATTCACAGGGGGCAAGGCCACTTTGGGCCTTGGTACTTGAACAAGCTTCTTCTTAGAACCCTTGGC A 290 PASS LCLAT1 CCDS1772.1 r.? - - Del intronic D 30858885 30858983 95 35 537.85 - - 1 1 1 LCLAT1|CCDS1772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LCLAT1|CCDS1772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 6 4 0 0 21 10 27 14 6 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454056463 2 42368771 G GA 360 PASS - - - - - Ins - I 42368771 42368781 1 12 318.255 - - 9 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 1 5 3 6 25 28 25 28 3 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454064291 2 65942298 AT A 540 PASS - - - - - Del - D 65942298 65942303 1 28 484.607 - - 4 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 3 6 3 26 17 26 17 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454065147 2 68444115 T TA 600 PASS PPP3R1 CCDS46310.1 r.? - - Ins intronic I 68444115 68444118 1 35 532.432 - - 2 1 1 PPP3R1|CCDS46310.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPP3R1|CCDS46310.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 6 5 8 12 19 12 19 5 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454067268 2 75099696 T TG 300 PASS HK2 CCDS1956.1 r.? - - Ins intronic I 75099696 75099704 1 12 266.216 - - 7 1 1 HK2|CCDS1956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HK2|CCDS1956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 4 2 15 18 15 18 4 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454068935 2 80200208 GT G 360 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 80200208 80200218 1 15 314.643 - - 9 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 4 4 5 30 24 30 24 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454069732 2 82496830 CTTCTCAGTGTAAATGATTTTTTCCAGGGCCA C 261 PASS - - - - - Del - D 82496830 82496862 31 28 484.607 - - 1 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 6 3 5 1 17 18 18 20 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454071910 2 89247379 AACATGCAAATGAGCAGGGGA AAC 348 PASS - - - - - Complex - DI 89247380 89247399 20 33 0 - - 0 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 10 2 0 0 29 11 30 12 10 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454072118 2 90229764 GA G 300 PASS - - - - - Del - D 90229764 90229766 1 12 269.226 - - 1 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 2 4 2 23 23 23 23 4 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454074302 2 98854003 TAAATGTGG T 348 PASS VWA3B CCDS42718.1 r.? - - Del intronic D 98854003 98854013 8 49 645.541 - - 1 1 1 VWA3B|CCDS42718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VWA3B|CCDS42718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 6 6 6 7 16 23 16 23 6 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454075576 2 102578025 ACGGAG A 269 PASS AC005035.2 ENST00000508786 r.? - - Del upstream D 102578025 102578032 5 6 269.226 - - 1 1 1 AC005035.2|ENST00000508786|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 AC005035.2|ENST00000508786|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 11 3 11 3 0 0 ./. 5 0 5 0 29 12 29 12 5 0 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454075936 2 103877559 CT C 600 PASS - - - - - Del - D 103877559 103877568 1 32 538.452 - - 8 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 7 3 10 5 30 24 30 24 10 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454088093 2 140507058 G GA 300 PASS - - - - - Ins - I 140507058 140507067 1 12 266.216 - - 8 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 3 5 5 22 33 22 33 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454088481 2 141501888 CA C 420 PASS LRP1B CCDS2182.1 r.? - - Del intronic D 141501888 141501894 1 14 376.917 - - 5 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 6 1 6 1 36 18 36 18 6 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454088719 2 141897076 G GA 389 PASS LRP1B CCDS2182.1 r.? - - Ins intronic I 141897076 141897086 1 20 372.702 - - 9 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 4 3 4 4 26 31 26 31 4 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454090563 2 148124182 A ATT 360 PASS - - - - - Ins - I 148124182 148124192 2 15 315.847 - - 9 1 1 - - ./. 0 0 0 0 10 15 11 15 0 0 ./. 2 4 3 5 22 23 22 24 3 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454098372 2 172746793 AT A 269 PASS SLC25A12 CCDS33327.1 r.? - - Del intronic D 172746793 172746799 1 10 269.226 - - 5 1 1 SLC25A12|CCDS33327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC25A12|CCDS33327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 1 4 1 4 28 33 28 33 1 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454099676 2 176750225 CT C 360 PASS - - - - - Del - D 176750225 176750233 1 12 323.071 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 1 6 1 24 14 24 14 6 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454102639 2 185683934 T TA 300 PASS ZNF804A CCDS2291.1 r.? - - Ins intronic I 185683934 185683944 1 10 266.216 - - 9 1 1 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 1 4 1 34 25 35 25 4 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454105453 2 193684867 CA C 484 PASS - - - - - Del - D 193684867 193684873 1 20 538.452 - - 5 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 1 9 3 11 19 32 19 32 3 11 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454105845 2 195158515 TTGTTCTAGAGCACGGTCCCAG T 319 PASS - - - - - Del - D 195158515 195158540 21 40 592.298 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 7 3 7 24 28 25 28 4 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454107561 2 200730724 CA C 300 PASS - - - - - Del - D 200730724 200730730 1 6 269.226 - - 5 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 0 6 0 23 24 23 24 6 0 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454109650 2 206732526 AT A 360 PASS - - - - - Del - D 206732526 206732532 1 7 323.071 - - 5 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 0 6 1 6 19 21 19 21 1 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454109745 2 206915499 TG T 291 PASS INO80D CCDS46500.1 r.? - - Del intronic D 206915499 206915502 1 10 268.624 - - 2 1 1 INO80D|CCDS46500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INO80D|CCDS46500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 1 4 2 7 15 21 15 21 2 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454109758 2 206950319 C CT 420 PASS INO80D CCDS46500.1 r.? - - Ins intronic I 206950319 206950321 1 18 370.896 - - 1 1 1 INO80D|CCDS46500.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 INO80D|CCDS46500.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 5 2 11 7 23 20 24 20 11 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454116311 2 225398173 C CA 420 PASS CUL3 CCDS2462.1 r.? - - Ins intronic I 225398173 225398183 1 14 369.09 - - 9 1 - CUL3|CCDS2462.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CUL3|CCDS2462.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 6 3 6 21 24 21 24 3 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454117878 2 229425504 AAGAGATTAA AC 261 PASS - - - - - Complex - DI 229425505 229425513 9 28 0 - - 0 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 6 0 0 18 24 18 24 3 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454119166 2 233011058 TCTTTTTAAATAGTTTGTAGTAGGATG T 261 PASS DIS3L2 CCDS42834.1 r.? - - Del intronic D 233011058 233011090 26 28 484.607 - - 1 1 1 DIS3L2|CCDS42834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIS3L2|CCDS42834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 6 3 4 2 25 21 27 22 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454119168 2 233012081 GT G 480 PASS DIS3L2 CCDS42834.1 r.? - - Del intronic D 233012081 233012089 1 21 429.558 - - 7 1 1 DIS3L2|CCDS42834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIS3L2|CCDS42834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 2 10 3 26 15 26 15 10 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454121526 2 240191606 CTTTGTTAATTGCACATTA CGGGCT 261 PASS HDAC4 CCDS2529.1 r.? - - Complex intronic DI 240191607 240191624 18 24 0 - - 0 1 1 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 2 7 0 0 18 14 18 15 2 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454124658 20 6243862 TA T 300 PASS - - - - - Del - D 6243862 6243871 1 6 271.956 - - 8 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 0 6 1 16 14 16 14 6 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454126688 20 12420317 CAA C 360 PASS - - - - - Del - D 12420317 12420321 2 16 326.348 - - 3 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 3 4 3 12 12 12 12 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454129567 20 21121678 T TA 360 PASS - - - - - Ins - I 21121678 21121686 1 15 322.735 - - 7 1 1 - - ./. 0 0 0 0 16 6 17 6 0 0 ./. 4 2 4 5 20 18 20 18 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454129824 20 22119072 GAA G 360 PASS - - - - - Del - D 22119072 22119080 2 16 326.348 - - 7 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 3 4 4 22 20 22 20 4 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454136851 20 40860252 ATCTTGACTG A 348 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 40860252 40860264 9 45 650.889 - - 1 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 8 4 9 6 20 21 20 21 9 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454137954 20 43935846 AT A 480 PASS MATN4 CCDS13348.1 r.? - - Del intronic D 43935846 43935852 1 24 432.12 - - 5 1 1 MATN4|CCDS13348.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MATN4|CCDS13348.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 5 4 6 21 27 21 27 4 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454143817 20 58370177 ATTG A 509 PASS PHACTR3 CCDS13480.1 r.? - - Del intronic D 58370177 58370187 3 30 489.522 - - 3 1 1 PHACTR3|CCDS13480.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHACTR3|CCDS13480.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 4 5 6 7 29 34 29 34 6 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454143965 20 59062334 AAGAG A 385 PASS - - - - - Del - D 59062334 59062339 4 28 488.317 - - 2 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 6 3 8 4 28 24 28 24 8 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454157545 21 36077029 AT A 720 PASS CLIC6 CCDS13638.1 r.? - - Del intronic D 36077029 36077033 1 45 653.384 - - 3 1 1 CLIC6|CCDS13638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLIC6|CCDS13638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 8 8 9 24 28 24 28 8 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454162892 22 17916543 ATACG A 418 PASS CECR2 ENST00000400585 r.? - - Del intronic D 17916543 17916551 4 25 437.231 - - 1 1 1 CECR2|ENST00000400585|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CECR2|ENST00000400585|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 4 4 5 4 23 16 23 16 5 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454165822 22 25708730 G GGA 269 PASS - - - - - Ins - I 25708730 25708744 2 12 267.249 - - 6 1 1 - - ./. 0 0 0 0 7 6 8 6 0 0 ./. 2 3 2 4 21 21 21 21 2 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454171931 22 41048060 GCTTGGCAGGGCTGGAGGGGAGGAGACCCA G 305 PASS Z98048.1 ENST00000499213 r.? - - Del intronic D 41048060 41048091 29 36 596.377 - - 1 1 1 Z98048.1|ENST00000499213|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 Z98048.1|ENST00000499213|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 8 2 4 14 15 15 19 3 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454174057 22 46228442 AAACGCCCCAAGGGCAGGGACTGGACTATCCTGTTAGCTGTTGTCTTACCAGTATTGAGCATTTTGCCTTCGTATTTATTAAATGAATGAATAGATCATGATTAAATTTTTGAGAGACATTCAGATGTAAGATTAACAGTTTGAATTTTTGTTCATATCTAAATCCCTTGCTCCAACGCCAGTCTAAATATCAAGAGGTGTGTTGTTCATAGAAAAGAGGAAAACAGTGTTAAAGTATTAAGTTTCTGTAATTCAATGAATTTTCTCCCCAAAATGAAATATTCAGTACTTCAGAAATTTTTTAGAGAGATACGCGTCAAGGGAGAGTTTTAGAACTAAGTGTCACCAGCATGACCACTTGGCTTTTAAATAGTCTAAAGTGTTATAGTGAATGTTGGAGTTATTTATGTATTATACCTTTCTGCTGAAGGTTGTCCTGACTTTAAATGGATATAGTAGTGCTCTTCCCCTGATGAGGACAAATTAGAATTAGAGATCTCCTTGTTGAAAGAAATCAATCAGACTGCAGGTAACTCTTGAGTCACCTATTACTGTTAGAAGTGAAAGCAGACAGCATGAAATGAGAACCTCTCTCCTGTGCTGACTTTGCAGCATCATAGAGTCCTTGGGAAGCGCACGCATCTGGTATCTGTCCCTGTTCACCCTGCAAGCCCTCCCCACCCTTGACCACCGACTTCCTGGGAGCTGCTGAAGGCGTCGGGGGAGGTGGGGTGAGGAGGCAGGTCAGGATGGCCATGGTAACTAATGCCATTGGAGCAAGTGCTACCAGATGCCCAGACACTGGTGTGTACAGCATAAGAGCGCTCCTTGACTCCTCAGGGCCTGCTGGGTCTTGTCTGTTCTAAATCGCCAGAAGCTCCACC A 290 PASS ATXN10 CCDS14070.1 r.? - - Del intronic D 46228442 46229326 883 27 543.529 - - 1 1 1 ATXN10|CCDS14070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATXN10|CCDS14070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 2 8 0 0 16 10 18 18 2 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454175254 22 49548226 G GA 389 PASS - - - - - Ins - I 49548226 49548227 1 14 377.761 - - 0 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 6 0 0 21 16 21 16 1 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454182269 3 18000691 A AT 420 PASS AC139618.1 ENST00000448265 r.? - - Ins upstream I 18000691 18000698 1 20 373.423 - - 6 1 1 AC139618.1|ENST00000448265|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 AC139618.1|ENST00000448265|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 5 4 20 24 20 24 5 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454182983 3 20295854 G GT 360 PASS - - - - - Ins - I 20295854 20295863 1 15 320.077 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 2 4 4 22 16 22 16 4 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454190503 3 45259912 TG T 360 PASS - - - - - Del - D 45259912 45259919 1 15 323.689 - - 6 1 1 - - ./. 0 0 0 0 4 6 4 6 0 0 ./. 4 2 4 3 16 20 16 20 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454195800 3 63369237 CA C 480 PASS SYNPR CCDS46859.1 r.? - - Del intronic D 63369237 63369244 1 25 430.984 - - 6 1 1 SYNPR|CCDS46859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYNPR|CCDS46859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 4 4 6 5 16 19 16 19 6 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454199209 3 75283013 T TA 540 PASS - - - - - Ins - I 75283013 75283021 1 30 480.116 - - 7 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 5 4 6 5 22 16 23 16 6 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454202315 3 81504056 CA C 360 PASS - - - - - Del - D 81504056 81504062 1 12 323.689 - - 5 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 1 5 2 22 17 22 17 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454205417 3 94623970 AT A 300 PASS - - - - - Del - D 94623970 94623974 1 12 269.741 - - 3 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 2 3 3 22 27 22 27 3 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454205786 3 95697181 AC A 420 PASS - - - - - Del - D 95697181 95697187 1 20 377.638 - - 5 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 4 5 5 29 27 29 27 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454206402 3 97851279 ATGT A 392 PASS OR5H1 CCDS33797.1 r.? - - Del upstream D 97851279 97851286 3 24 485.534 - - 2 1 1 OR5H1|CCDS33797.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 OR5H1|CCDS33797.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 6 8 6 0 0 ./. 2 7 2 7 20 24 20 24 2 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454208398 3 103961931 CTGAGCTGTACAGAGAGTACACTCAACAG C 261 PASS - - - - - Del - D 103961931 103961964 28 28 484.932 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 3 3 3 17 21 20 21 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454210896 3 111206108 GA G 360 PASS - - - - - Del - D 111206108 111206113 1 12 323.087 - - 4 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 1 7 2 22 8 22 8 7 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454215519 3 125168721 GGAAAAACAAAAAA G 290 PASS SNX4 CCDS3032.1 r.? - - Del intronic D 125168721 125168735 13 35 539.482 - - 1 1 1 SNX4|CCDS3032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX4|CCDS3032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 6 6 6 20 23 20 23 6 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454217087 3 130514363 TGTTGA T 538 PASS - - - - - Del - D 130514363 130514372 5 36 539.482 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 5 8 5 22 20 22 20 8 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454218463 3 134707258 A AT 480 PASS EPHB1 CCDS46921.1 r.? - - Ins intronic I 134707258 134707267 1 21 426.167 - - 8 1 1 EPHB1|CCDS46921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPHB1|CCDS46921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 6 2 6 8 29 31 29 32 6 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454220559 3 141547332 ACCCACCCTAATGAC A 261 PASS - - - - - Del - D 141547332 141547348 14 28 485.534 - - 1 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 6 3 6 3 27 14 28 14 7 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454222839 3 148315732 CAAAG C 449 PASS - - - - - Del - D 148315732 148315742 4 21 431.586 - - 2 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 6 2 6 3 19 16 19 16 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454227145 3 161282288 GGACAT G 269 PASS - - - - - Del - D 161282288 161282298 5 12 269.741 - - 1 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 3 2 4 23 19 23 19 2 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454228441 3 164582979 C CA 300 PASS - - - - - Ins - I 164582979 164582987 1 12 263.721 - - 7 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 5 3 27 15 27 15 5 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454228633 3 165424537 TAAACTTAAG T 290 PASS - - - - - Del - D 165424537 165424549 9 35 539.482 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 6 8 7 37 27 37 27 8 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454228959 3 166425098 GC G 300 PASS - - - - - Del - D 166425098 166425102 1 12 268.537 - - 3 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 3 2 3 2 19 13 19 13 3 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454233513 3 179165754 AT A 600 PASS GNB4 CCDS3230.1 r.? - - Del intronic D 179165754 179165759 1 32 537.676 - - 4 1 1 GNB4|CCDS3230.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GNB4|CCDS3230.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 16 7 16 0 0 ./. 3 7 5 10 22 36 22 36 5 10 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454233516 3 179167733 GAAACAATTCTACA GGCCAAAGACTC 377 PASS GNB4 CCDS3230.1 r.? - - Complex intronic DI 179167734 179167746 13 54 0 - - 0 1 1 GNB4|CCDS3230.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 GNB4|CCDS3230.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 8 5 0 0 23 20 24 20 8 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454233550 3 179260905 GGACAAATATCCAAATCGTACTAATAAAGGATACATTTAGAGACAAGCAAGCTTTCAGAATCCTTCAAATTGTACTGGGAAAGCAGCTTCTCTTCATCACCTCCCCTCTACCCTTCCCAACCTCTGGTA G 276 PASS - - - - - Del - D 179260905 179261035 128 32 538.88 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 7 0 0 15 12 18 19 3 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454233836 3 180385780 TA T 360 PASS CCDC39 CCDS46964.1 r.? - - Del intronic D 180385780 180385785 1 15 323.689 - - 4 1 1 CCDC39|CCDS46964.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC39|CCDS46964.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 2 4 8 4 28 18 28 18 8 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454233867 3 180491909 C CT 300 PASS CCDC39 ENST00000471307 r.? - - Ins intronic I 180491909 180491916 1 6 266.731 - - 6 1 1 CCDC39|ENST00000471307|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CCDC39|ENST00000471307|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 0 5 0 33 31 33 32 5 0 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454234130 3 181184575 A AC 360 PASS - - - - - Ins - I 181184575 181184576 1 12 320.077 - - 0 1 1 - - ./. 0 0 0 0 11 8 11 9 0 0 ./. 5 1 5 2 28 21 29 21 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454237889 3 190051927 AGTAATTAAAAATCTATTTGAGAAATAACTTGTAGCAAACTGGAGTACAGAGTGATTGTTGTTAGGATAAAACTATACGTGTGTGTTTAGCACAATGAGGGAAGTTGTAGTGGGCTAGCAGAAGGATGTACTCAGATTAGGGAGAGCAATATCAGATAAGAGGAAAAGTATTTGAGAAGTGGAAGGATAAGAAATTTGACTGGAGTATATGCTATATCAGGTAGGGAGCCATGGAATATGAAGCTGCAAAATGGAATAAAGAGACTGAGAAGGGCCCACTATGCTAAAGACTTTGAGCTTCATCTCTTAGGTTGTGTGCAAGCACTGAATGATTTGTGGACAAGCACTGGACAATTTTTTGTGTGTGCTCCTCTACATCCATTCTGCAACATTTTCCACTCAGTCTGTTCCCCAGCAACTGAATCTTTCCACTTGCATTCATAGTCTCTCTTGCTCTCTGGCTTTGGCCAAAGAGAAGCACCTTTAGAAAGTCAGAGCACAGGAGAAAAGTGAAACTGGAATGGTAGATGTTGTTGGTAACCACCACGTCATCTTCTTTGTTAGGAGGGTAACCCATCTCCCAGGTGCTACAGGTATTGGTTACTAGCAAATTGCATTGTTAGCAGCAATGAGGAAAGCCCTTGGCTAGTGAGAGCCATGTGACTTAGAGATGCCTGGGAAGGTATGCAGCTTTCCTCTTCACCAGTGGCTGGTAAGCGGTGGTTGACCTATGCAATGGTGGAACAGCCTTGCCCCCTTGCATCTAGGCAGTAGAATCTCTGGAAACAATTTGTACTCCAGAGCTC A 298 PASS - - - - - Del - D 190051927 190052735 805 35 539.482 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 6 4 0 0 25 22 31 26 6 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454237929 3 190147312 ACTATTC A 377 PASS TMEM207 CCDS3297.1 r.574_579delGAAUAG c.? p.? Del 3'UTR variant D 190147312 190147322 6 54 701.327 - - 1 1 1 TMEM207|CCDS3297.1|r.574_579delGAAUAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TMEM207|CCDS3297.1|r.574_579delGAAUAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 8 6 7 33 41 33 42 6 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454238537 3 191682700 A AT 300 PASS - - - - - Ins - I 191682700 191682710 1 12 261.914 - - 9 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 2 3 2 3 32 28 33 29 2 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454244208 4 8337481 G GT 360 PASS - - - - - Ins - I 8337481 8337490 1 7 319.887 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 0 6 0 7 16 33 16 33 0 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454244368 4 8831219 GA G 360 PASS - - - - - Del - D 8831219 8831225 1 15 323.499 - - 5 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 2 4 5 5 16 20 16 20 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454244969 4 10571297 A AT 360 PASS CLNK CCDS47024.1 r.? - - Ins intronic I 10571297 10571300 1 12 319.285 - - 2 1 1 CLNK|CCDS47024.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLNK|CCDS47024.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 5 4 6 20 22 20 22 4 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454245034 4 10775647 ACTTCATTAAAATT A 290 PASS - - - - - Del - D 10775647 10775664 13 32 537.961 - - 1 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 7 3 7 18 15 18 15 3 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454245322 4 11639292 TA T 300 PASS - - - - - Del - D 11639292 11639297 1 10 269.583 - - 4 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 1 6 3 24 23 24 23 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454249398 4 24082562 G GTGTT 329 PASS - - - - - Ins - I 24082562 24082577 4 16 309.05 - - 3 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 3 4 4 27 30 27 30 4 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454251425 4 29582999 T TC 300 PASS - - - - - Ins - I 29582999 29583000 1 10 262.358 - - 0 1 - - - ./. 0 0 0 0 8 11 9 11 0 0 ./. 4 1 4 1 31 26 31 26 4 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454252693 4 33662605 AG A 540 PASS - - - - - Del - D 33662605 33662609 1 30 485.249 - - 3 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 5 4 5 22 20 22 20 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454253695 4 37099150 TGTACGACA T 406 PASS - - - - - Del - D 37099150 37099159 8 63 754.831 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 6 8 7 8 22 23 22 23 7 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454257874 4 48615143 GTTGT G 269 PASS FRYL CCDS43227.1 r.? - - Del intronic D 48615143 48615154 4 10 269.583 - - 2 1 1 FRYL|CCDS43227.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRYL|CCDS43227.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 1 4 1 5 21 40 21 40 1 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454259042 4 53018221 GGCA G 474 PASS - - - - - Del - D 53018221 53018227 3 42 593.082 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 6 5 6 28 23 28 23 5 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454261055 4 58479523 CA C 300 PASS - - - - - Del - D 58479523 58479529 1 12 269.583 - - 5 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 5 5 22 22 22 22 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454263219 4 64703302 T TTA 360 PASS - - - - - Ins - I 64703302 64703312 2 15 316.274 - - 4 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 4 2 6 4 28 27 28 28 6 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454263549 4 65732416 GA G 540 PASS - - - - - Del - D 65732416 65732422 1 28 485.249 - - 5 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 6 3 9 5 25 22 25 22 9 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454265129 4 70090809 G GA 300 PASS - - - - - Ins - I 70090809 70090815 1 10 266.572 - - 5 1 1 - - ./. 0 0 0 0 12 12 13 12 0 0 ./. 1 4 3 5 23 29 23 29 3 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454267035 4 75657127 C CA 840 PASS - - - - - Ins - I 75657127 75657137 1 48 745.199 - - 9 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 11 3 12 3 39 19 40 20 12 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454273415 4 94554803 TC T 329 PASS GRID2 CCDS3637.1 r.? - - Del intronic D 94554803 94554805 1 15 323.499 - - 1 1 1 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 4 2 4 6 18 18 18 18 4 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454275596 4 102475118 CAGTGAATAA C 261 PASS BANK1 ENST00000504592 r.? - - Del intronic D 102475118 102475131 9 28 485.249 - - 1 1 1 BANK1|ENST00000504592|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BANK1|ENST00000504592|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 20 11 20 0 0 ./. 6 3 6 4 22 21 22 21 6 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454281485 4 120738741 TC T 540 PASS - - - - - Del - D 120738741 120738743 1 30 485.249 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 4 6 10 32 28 32 28 6 10 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454282187 4 122918146 ACTTACTCGAATTTGAATCTCTGGCACCTAGTATATAATAGCTC A 290 PASS - - - - - Del - D 122918146 122918194 43 32 539.165 - - 1 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 7 3 2 0 14 16 19 19 7 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454283250 4 126192645 AGTAATAAAGAATTCCTTCT A 290 PASS - - - - - Del - D 126192645 126192667 19 35 539.165 - - 1 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 6 4 6 4 31 26 31 26 6 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454284874 4 131257308 GTTCT G 507 PASS - - - - - Del - D 131257308 131257316 4 35 539.165 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 6 4 6 4 14 21 14 21 6 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454286400 4 135631444 C CA 480 PASS - - - - - Ins - I 135631444 135631452 1 24 426.516 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 5 4 5 28 20 28 20 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454287823 4 139905750 GAGTTCATCTGGGTTGTC G 319 PASS - - - - - Del - D 139905750 139905768 17 36 593.082 - - 1 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 8 3 8 18 23 18 23 3 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454290577 4 148848100 TGTGAGACAG T 298 PASS ARHGAP10 CCDS34075.1 r.? - - Del intronic D 148848100 148848113 9 35 539.165 - - 1 1 1 ARHGAP10|CCDS34075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP10|CCDS34075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 4 5 5 26 17 27 17 6 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454292159 4 153953935 T TCTTTTAAGATA 319 PASS ENSG00000235872 ENST00000449499 r.? - - Ins intronic I 153953935 153953941 11 40 518.426 - - 0 1 1 ENSG00000235872|ENST00000449499|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000235872|ENST00000449499|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 7 4 7 4 31 26 32 26 7 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454296068 4 164747300 GTTTAA G 418 PASS MARCH1 CCDS45732.1 r.? - - Del intronic D 164747300 164747310 5 24 431.332 - - 1 1 1 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 5 5 6 22 22 22 22 5 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454298009 4 170008616 GTCATCAGATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATC G 261 PASS - - - - - Del - D 170008616 170008701 82 30 485.249 - - 1 1 - - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 4 0 0 15 10 20 14 5 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454298640 4 172092472 AAACACCTTTGGATTTTAAAAATAT A 377 PASS - - - - - Del - D 172092472 172092501 24 54 699.109 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 8 5 6 4 28 20 30 21 8 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454302887 4 183647286 AAAAACTTAAAAT A 285 PASS ODZ3 CCDS47165.1 r.? - - Del intronic D 183647286 183647300 12 27 537.961 - - 1 1 1 ODZ3|CCDS47165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ3|CCDS47165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 4 11 5 0 0 ./. 2 8 1 6 12 17 13 21 2 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454305525 4 190249216 ATCTCTTAGGTTTAGAAATATTGTT A 319 PASS - - - - - Del - D 190249216 190249243 24 42 593.082 - - 1 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 6 5 6 5 21 14 21 14 6 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454312046 5 15188756 AACAAATTTCTTCTTAATGTTGTT A 290 PASS - - - - - Del - D 15188756 15188782 23 36 539.782 - - 1 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 5 5 4 4 29 32 30 33 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454315545 5 23962910 A AG 660 PASS C5orf17 ENST00000507936 r.? - - Ins intronic I 23962910 23962911 1 42 587.137 - - 0 1 1 C5orf17|ENST00000507936|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C5orf17|ENST00000507936|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 15 0 0 ./. 5 6 6 7 25 31 25 31 6 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454316104 5 25567584 TTTGAG T 269 PASS - - - - - Del - D 25567584 25567593 5 10 266.279 - - 1 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 1 4 1 4 19 25 19 25 1 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454322563 5 42619246 TC T 300 PASS GHR CCDS3940.1 r.? - - Del intronic D 42619246 42619248 1 6 269.891 - - 1 1 1 GHR|CCDS3940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GHR|CCDS3940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 0 7 0 27 21 27 21 7 0 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454326313 5 57446559 AT A 780 PASS - - - - - Del - D 57446559 57446564 1 54 701.716 - - 4 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 5 8 7 9 21 30 21 30 7 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454330353 5 71889261 C CA 360 PASS - - - - - Ins - I 71889261 71889270 1 15 319.053 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 2 4 3 27 22 27 22 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454336663 5 90801264 AG A 420 PASS - - - - - Del - D 90801264 90801266 1 20 377.847 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 3 6 6 39 28 39 28 6 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454346341 5 123772962 AGTGAT A 267 PASS - - - - - Del - D 123772962 123772970 5 16 323.869 - - 1 1 1 - - ./. 0 0 0 0 2 9 2 9 0 0 ./. 3 3 4 5 25 43 25 43 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454346496 5 124165987 AT A 300 PASS - - - - - Del - D 124165987 124165989 1 10 269.891 - - 1 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 1 5 2 23 23 23 23 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454347408 5 126474722 TATGATACTAC T 290 PASS - - - - - Del - D 126474722 126474737 10 35 539.782 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 6 4 7 15 31 15 31 4 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454354122 5 146074850 AT A 300 PASS PPP2R2B CCDS4284.1 r.? - - Del intronic D 146074850 146074860 1 12 269.891 - - 9 1 1 PPP2R2B|CCDS4284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP2R2B|CCDS4284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 3 2 3 28 33 28 33 2 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454354376 5 146858638 G GA 300 PASS DPYSL3 ENST00000343218 r.? - - Ins intronic I 146858638 146858648 1 12 266.881 - - 9 1 1 DPYSL3|ENST00000343218|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPYSL3|ENST00000343218|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 4 3 36 21 36 21 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454358420 5 159736676 TCCATGAA T 290 PASS CCNJL CCDS4350.2 r.? - - Del intronic D 159736676 159736684 7 32 539.18 - - 1 1 1 CCNJL|CCDS4350.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCNJL|CCDS4350.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 7 5 9 23 25 23 25 5 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454375187 6 21015150 GTTTTTTTCTAATAT GTTAAAT 319 PASS CDKAL1 CCDS4546.1 r.? - - Complex intronic DI 21015151 21015164 14 42 0 - - 0 1 1 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 5 6 0 0 28 22 28 23 5 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454375645 6 22036413 AT A 480 PASS - - - - - Del - D 22036413 22036419 1 24 431.764 - - 5 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 5 4 7 20 27 20 27 4 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454379081 6 29815936 G GCTCT 420 PASS - - - - - Ins - I 29815936 29815937 4 20 359.731 - - 0 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 4 3 4 17 20 17 20 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454382908 6 36683263 C CT 300 PASS RAB44 ENST00000355623 r.404_405insu c.59_60insT p.L21fs*63 Ins frameshift I 36683263 36683267 1 10 266.842 - - 3 1 1 RAB44|ENST00000355623|r.404_405insu|c.59_60insT|p.L21fs*63|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 RAB44|ENST00000355623|r.404_405insu|c.59_60insT|p.L21fs*63|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 13 11 13 12 0 0 ./. 4 1 7 1 23 21 23 21 7 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454383564 6 38159062 T TA 720 PASS BTBD9 CCDS47418.1 r.? - - Ins intronic I 38159062 38159068 1 45 640.421 - - 5 1 1 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 8 4 8 9 29 25 29 26 8 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454384238 6 40258167 C CT 540 PASS - - - - - Ins - I 40258167 40258175 1 30 477.305 - - 7 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 4 5 5 7 28 26 28 26 5 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454387487 6 49740208 GGTTTGGAATGTTTCT G 348 PASS - - - - - Del - D 49740208 49740225 15 45 647.645 - - 1 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 8 4 8 18 21 18 21 4 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454388009 6 51504613 TTTA T 269 PASS PKHD1 CCDS4935.1 r.? - - Del intronic D 51504613 51504618 3 12 269.852 - - 1 1 1 PKHD1|CCDS4935.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKHD1|CCDS4935.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 2 5 2 19 19 19 19 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454388361 6 52463218 TCCTGGGGCCC T 319 PASS - - - - - Del - D 52463218 52463234 10 36 591.869 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 8 3 8 18 21 18 21 3 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454391422 6 58562635 AT A 337 PASS - - - - - Del - D 58562635 58562641 1 16 323.823 - - 5 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 5 3 21 20 21 20 5 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454392114 6 63636658 G GT 480 PASS - - - - - Ins - I 63636658 63636666 1 24 425.141 - - 7 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 3 6 6 17 33 17 33 6 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454396986 6 78009675 CACTTTGAAGAATTTCT C 290 PASS - - - - - Del - D 78009675 78009694 16 35 538.5 - - 1 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 6 4 6 4 25 24 25 24 6 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454397664 6 80322941 GAGAGA G 356 PASS - - - - - Del - D 80322941 80322949 5 16 431.162 - - 1 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 7 1 8 1 27 19 27 19 8 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454398876 6 84325575 AATAGTTGCATTTTG A 464 PASS SNAP91 CCDS47455.1 r.? - - Del intronic D 84325575 84325594 14 65 863.527 - - 1 1 1 SNAP91|CCDS47455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNAP91|CCDS47455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 12 3 11 24 26 25 27 4 12 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454402833 6 96844613 CTAAGTCAT C 348 PASS - - - - - Del - D 96844613 96844625 8 45 646.441 - - 1 1 1 - - ./. 0 0 0 0 4 19 4 19 0 0 ./. 4 8 4 9 28 25 28 25 4 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454403162 6 97973212 T TA 360 PASS - - - - - Ins - I 97973212 97973222 1 16 320.21 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 3 4 3 27 27 27 28 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454404037 6 100621623 ATTTGAAAG A 464 PASS - - - - - Del - D 100621623 100621634 8 80 863.527 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 7 9 9 10 24 26 24 26 9 10 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454407571 6 110586578 ACCGTGG A 317 PASS C6orf186 CCDS43489.1 r.? - - Del intronic D 110586578 110586585 6 49 647.043 - - 1 1 1 C6orf186|CCDS43489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf186|CCDS43489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 6 6 8 6 19 17 19 17 8 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454414134 6 130119146 TTGTACATACA T 261 PASS - - - - - Del - D 130119146 130119160 10 30 479.713 - - 1 1 - - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 4 8 4 41 20 41 20 8 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454418530 6 142527717 ATATGAACTCCAACTATCTAAAGTTTATATGGAGTGGCAGAAGACCCAGAATAATCAACGTAG A 290 PASS VTA1 CCDS5197.1 r.? - - Del intronic D 142527717 142527782 62 36 539.704 - - 1 1 1 VTA1|CCDS5197.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VTA1|CCDS5197.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 5 0 0 17 19 22 24 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454420514 6 149386271 TC T 420 PASS UST CCDS5213.1 r.? - - Del intronic D 149386271 149386273 1 18 377.793 - - 1 1 1 UST|CCDS5213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UST|CCDS5213.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 5 2 7 12 21 12 21 2 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454426439 6 167914624 G GT 269 PASS ENSG00000233092 ENST00000439231 r.? - - Ins intronic I 167914624 167914634 1 12 266.842 - - 9 1 1 ENSG00000233092|ENST00000439231|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000233092|ENST00000439231|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 17 12 17 0 0 ./. 2 3 2 3 22 18 23 19 2 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454427932 7 1874675 C CA 267 PASS MAD1L1 CCDS43539.1 r.? - - Ins intronic I 1874675 1874679 1 24 427.104 - - 3 1 1 MAD1L1|CCDS43539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAD1L1|CCDS43539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 3 7 6 27 29 27 29 7 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454429743 7 5838075 AT A 420 PASS - - - - - Del - D 5838075 5838078 1 14 377.93 - - 2 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 6 2 7 19 28 19 28 2 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454432145 7 11902480 C CT 360 PASS - - - - - Ins - I 11902480 11902482 1 15 316.716 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 2 5 3 23 19 23 20 5 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454432339 7 12403318 GA G 360 PASS VWDE CCDS47544.1 r.? - - Del intronic D 12403318 12403322 1 15 323.94 - - 3 1 1 VWDE|CCDS47544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VWDE|CCDS47544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 4 4 6 18 33 18 33 4 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454433091 7 14370619 TA T 540 PASS DGKB CCDS47547.1 r.? - - Del intronic D 14370619 14370628 1 28 485.911 - - 8 1 1 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 6 3 7 4 37 26 37 26 7 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454435034 7 20003879 TGAGAATGAGCAAAA T 319 PASS - - - - - Del - D 20003879 20003899 14 42 593.891 - - 1 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 6 5 7 6 31 26 31 26 7 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454438556 7 28663568 GGATAT G 269 PASS CREB5 CCDS5417.1 r.? - - Del intronic D 28663568 28663578 5 10 269.95 - - 1 1 1 CREB5|CCDS5417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CREB5|CCDS5417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 8 19 8 0 0 ./. 4 1 6 2 23 29 23 29 6 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454438963 7 29694748 TA T 1080 PASS - - - - - Del - D 29694748 29694753 1 100 971.821 - - 4 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 9 9 12 13 33 36 33 36 12 13 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454439319 7 31091634 AGAGACTGGAAAGAGGGTGGTGAGCCCAG A 261 PASS ADCYAP1R1 CCDS5433.1 r.? - - Del upstream D 31091634 31091666 28 30 485.911 - - 1 1 1 ADCYAP1R1|CCDS5433.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 AC006978.1|ENST00000507825|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 4 5 2 30 16 30 18 5 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454442080 7 38377815 GCCATTCTCCTGCCTCAGCCTTCTCAGTAGCTGGGACTACAGGCA G 377 PASS AC007245.3 ENST00000515771 r.? - - Del upstream D 38377815 38377862 44 56 699.463 - - 1 1 1 AC007245.3|ENST00000515771|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 AC007245.3|ENST00000515771|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 9 9 9 9 0 0 ./. 7 6 3 2 19 17 23 21 7 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454442978 7 40349505 AAC A 269 PASS C7orf10 ENST00000309930 r.? - - Del intronic D 40349505 40349511 2 10 269.95 - - 2 1 1 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 1 4 1 32 19 32 19 4 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454444562 7 44957232 A AG 300 PASS - - - - - Ins - I 44957232 44957233 1 12 266.338 - - 0 1 1 - - ./. 0 0 0 0 7 8 8 8 0 0 ./. 2 3 3 4 25 21 25 21 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454444771 7 45552064 TA T 720 PASS - - - - - Del - D 45552064 45552066 1 49 647.881 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 6 10 7 31 27 31 27 10 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454445423 7 47659173 T TG 300 PASS - - - - - Ins - I 47659173 47659178 1 6 266.94 - - 4 1 1 - - ./. 0 0 0 0 10 16 11 17 0 0 ./. 5 0 5 2 26 16 26 16 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454446053 7 49543606 TTACG T 896 PASS - - - - - Del - D 49543606 49543613 4 88 916.025 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 7 10 7 12 21 29 21 30 7 13 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454451187 7 64031565 CAACTTTTCG C 290 PASS - - - - - Del - D 64031565 64031579 9 36 539.901 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 5 5 5 18 20 18 20 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454453283 7 68633924 AC A 300 PASS - - - - - Del - D 68633924 68633926 1 12 269.95 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 3 2 4 24 16 24 16 2 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454457157 7 79274100 CTACT C 360 PASS - - - - - Del - D 79274100 79274106 4 15 323.94 - - 1 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 4 2 5 2 28 23 28 23 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454457369 7 80186891 C CA 540 PASS CD36 CCDS34673.1 r.? - - Ins intronic I 80186891 80186897 1 28 479.288 - - 5 1 1 CD36|CCDS34673.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CD36|CCDS34673.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 3 6 3 6 17 32 17 32 3 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454457439 7 80352626 C CT 329 PASS - - - - - Ins - I 80352626 80352632 1 15 319.726 - - 5 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 4 4 6 21 19 21 19 4 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454457440 7 80352881 GTGTTGTTTTC G 261 PASS - - - - - Del - D 80352881 80352893 10 28 482.298 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 6 5 7 23 25 23 25 5 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454460723 7 90230260 TGGTCCCTGTCCTCAA T 290 PASS CDK14 ENST00000380050 r.? - - Del intronic D 90230260 90230278 15 36 539.901 - - 1 1 1 CDK14|ENST00000380050|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDK14|ENST00000380050|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 5 5 5 20 17 20 17 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454462460 7 96717094 TA T 780 PASS - - - - - Del - D 96717094 96717100 1 56 701.871 - - 5 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 7 8 10 15 17 15 17 8 10 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454465004 7 104640349 A AT 300 PASS - - - - - Ins - I 104640349 104640356 1 12 266.94 - - 6 1 1 - - ./. 0 0 0 0 11 7 12 7 0 0 ./. 2 3 3 4 16 19 17 19 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454465364 7 105672080 GC G 387 PASS CDHR3 CCDS47684.1 r.? - - Del intronic D 105672080 105672084 1 24 431.921 - - 3 1 1 CDHR3|CCDS47684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDHR3|CCDS47684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 5 6 8 19 18 19 18 6 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454471095 7 126962166 CTAGCTAGTCTTTTAAAAAACA C 261 PASS - - - - - Del - D 126962166 126962190 21 30 485.911 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 4 6 4 24 15 24 15 6 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454472758 7 130838413 G GTT 269 PASS MKLN1 ENST00000421797 r.? - - Ins intronic I 130838413 130838422 2 10 259.715 - - 8 1 1 MKLN1|ENST00000421797|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MKLN1|ENST00000421797|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 1 0 4 24 18 24 18 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454477948 7 144608697 CA C 1016 PASS - - - - - Del - D 144608697 144608704 1 110 1025.81 - - 6 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 9 10 11 15 17 34 17 34 11 15 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454478359 7 145577753 A AT 420 PASS - - - - - Ins - I 145577753 145577762 1 20 373.716 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 3 4 3 39 33 39 33 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454478855 7 146991388 AAAGTTCATTTTTTCATTCTCACTTTTTAGAAAT A 290 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 146991388 146991424 33 36 539.901 - - 1 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 5 5 4 3 33 26 34 28 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454481562 7 152390740 T TC 300 PASS - - - - - Ins - I 152390740 152390741 1 10 264.532 - - 0 1 - - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 1 4 25 34 25 34 1 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454482353 7 154250678 TA T 478 PASS DPP6 ENST00000404039 r.? - - Del intronic D 154250678 154250685 1 30 485.911 - - 6 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 4 9 11 35 43 35 43 9 11 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454486113 8 4511474 AGGATT A 540 PASS - - - - - Del - D 4511474 4511487 5 28 485.661 - - 2 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 6 3 7 3 34 30 34 30 7 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454497525 8 34509108 G GT 277 PASS - - - - - Ins - I 34509108 34509116 1 12 266.801 - - 7 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 2 7 2 43 40 43 40 7 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454498158 8 36223169 TAATATGGCTCTTAAAAAAAG T 290 PASS - - - - - Del - D 36223169 36223196 20 35 535.409 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 6 4 6 30 52 30 52 4 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454499641 8 39582108 C CT 300 PASS ADAM18 CCDS6113.1 r.? - - Ins intronic I 39582108 39582117 1 12 266.801 - - 8 1 1 ADAM18|CCDS6113.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAM18|CCDS6113.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 14 0 0 ./. 2 3 2 3 50 31 50 33 2 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454499911 8 40072435 AAC A 300 PASS - - - - - Del - D 40072435 40072453 2 12 269.21 - - 8 1 - - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 3 3 4 41 44 41 44 3 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454500395 8 41121146 TG T 480 PASS SFRP1 CCDS34886.1 r.2798delC c.? p.? Del 3'UTR variant D 41121146 41121152 1 9 431.699 - - 5 1 1 SFRP1|CCDS34886.1|r.2798delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SFRP1|CCDS34886.1|r.2798delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 14 11 14 0 0 ./. 0 8 0 8 27 56 27 56 0 8 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454501334 8 42925450 C CA 300 PASS FNTA CCDS6140.1 r.? - - Ins intronic I 42925450 42925459 1 6 266.801 - - 8 1 1 FNTA|CCDS6140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FNTA|CCDS6140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 0 5 0 7 45 49 48 50 0 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454502181 8 48435893 TC T 300 PASS KIAA0146 CCDS43737.1 r.? - - Del intronic D 48435893 48435895 1 12 269.812 - - 1 1 1 KIAA0146|CCDS43737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0146|CCDS43737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 2 3 3 3 42 35 42 35 3 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454503066 8 50883827 ACATGATTATCT A 386 PASS - - - - - Del - D 50883827 50883841 11 60 748.85 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 9 8 9 43 33 43 33 8 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454504477 8 54219279 A AT 300 PASS - - - - - Ins - I 54219279 54219288 1 12 265.597 - - 8 1 1 - - ./. 0 0 0 0 11 7 12 7 0 0 ./. 3 2 4 2 43 49 45 50 4 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454506564 8 59167203 C CAT 269 PASS - - - - - Ins - I 59167203 59167204 2 10 263.791 - - 0 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 1 4 2 43 36 44 36 4 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454506861 8 59996945 AG A 900 PASS TOX CCDS34897.1 r.? - - Del intronic D 59996945 59996947 1 66 809.435 - - 1 1 1 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 10 5 13 6 42 35 42 35 13 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454507601 8 62265378 TA T 300 PASS CLVS1 CCDS6176.1 r.? - - Del intronic D 62265378 62265384 1 12 269.812 - - 5 1 1 CLVS1|CCDS6176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLVS1|CCDS6176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 2 5 2 35 40 35 40 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454508317 8 64280669 G GT 360 PASS - - - - - Ins - I 64280669 64280679 1 12 316.549 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 1 5 1 50 42 50 42 5 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454509646 8 67861331 C CT 268 PASS - - - - - Ins - I 67861331 67861341 1 12 266.199 - - 9 1 1 - - ./. 0 0 0 0 9 11 10 11 0 0 ./. 3 2 4 3 50 42 50 42 4 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454510239 8 69174467 GCATTGTTTATTTTTCCCTT G 261 PASS - - - - - Del - D 69174467 69174489 19 30 485.661 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 5 4 5 37 49 37 49 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454512016 8 73643120 TA T 1020 PASS KCNB2 CCDS6209.1 r.? - - Del intronic D 73643120 73643130 1 88 917.359 - - 9 1 1 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 10 7 13 10 43 42 43 42 13 10 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454514168 8 78813657 TAC T 269 PASS - - - - - Del - D 78813657 78813675 2 6 263.791 - - 8 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 0 5 2 36 28 36 28 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454515506 8 82104331 TTTAAGTAGAGAAAAATCTGATGATTGG T 261 PASS - - - - - Del - D 82104331 82104360 27 24 485.661 - - 1 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 7 2 6 30 37 30 38 2 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454518102 8 88618659 G GT 300 PASS - - - - - Ins - I 88618659 88618669 1 12 264.393 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 2 3 2 39 43 40 43 3 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454519582 8 93088154 AAGT A 418 PASS RUNX1T1 CCDS6257.1 r.? - - Del intronic D 93088154 93088159 3 21 431.699 - - 1 1 1 RUNX1T1|CCDS6257.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RUNX1T1|CCDS6257.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 6 2 7 2 32 37 33 37 8 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454521250 8 96829146 ATGTTCTGTAAATACC A 261 PASS - - - - - Del - D 96829146 96829166 15 28 485.661 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 3 5 3 38 29 38 29 6 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454523131 8 101518779 GC G 300 PASS ANKRD46 ENST00000358990 r.? - - Del downstream D 101518779 101518784 1 12 269.812 - - 4 1 1 ANKRD46|ENST00000358990|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ANKRD46|ENST00000358990|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 3 2 29 36 29 36 3 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454523571 8 102436242 CT C 360 PASS - - - - - Del - D 102436242 102436247 1 16 323.774 - - 4 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 3 3 3 30 19 30 19 3 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454527686 8 112699297 G GCTGGTTGC 493 PASS - - - - - Ins - I 112699297 112699306 8 78 832.469 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 12 5 12 4 46 27 48 28 13 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454528395 8 114468237 TA T 1109 PASS - - - - - Del - D 114468237 114468242 1 110 1010.83 - - 4 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 9 10 13 12 36 44 36 44 13 12 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454528598 8 114936872 TA T 900 PASS - - - - - Del - D 114936872 114936874 1 70 809.435 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 9 6 17 9 35 24 35 24 17 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454528760 8 115486086 GAAT G 300 PASS - - - - - Del - D 115486086 115486096 3 12 269.812 - - 3 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 2 3 2 34 31 34 31 3 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454529341 8 116991674 A ATGGTCTATATTCACATATAGAGCATCTGAGAAAG 493 PASS AF130342.1 ENST00000505156 r.? - - Ins intronic I 116991674 116991681 34 88 568.767 - - 0 1 1 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 14 8 0 0 ./. 10 7 0 0 26 17 36 25 10 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454529342 8 116991756 GCAAGACAC G 261 PASS AF130342.1 ENST00000505156 r.? - - Del intronic D 116991756 116991767 8 18 434.486 - - 1 1 1 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 8 4 15 16 24 18 25 4 15 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454532762 8 125248866 A AT 360 PASS ENSG00000214803 ENST00000399016 r.? - - Ins intronic I 125248866 125248868 1 15 320.162 - - 1 1 1 ENSG00000214803|ENST00000399016|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000214803|ENST00000399016|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 4 3 5 44 51 44 51 3 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454533429 8 126799015 GT G 296 PASS - - - - - Del - D 126799015 126799020 1 18 377.736 - - 4 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 5 2 6 38 26 38 26 2 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454536861 8 136280376 CT C 300 PASS - - - - - Del - D 136280376 136280379 1 6 269.812 - - 2 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 0 5 2 40 34 40 34 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454538318 8 139673203 A ACG 290 PASS COL22A1 CCDS6376.1 r.? - - Ins intronic I 139673203 139673205 2 36 527.582 - - 0 1 - COL22A1|CCDS6376.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 5 0 0 36 38 36 38 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454538436 8 139963992 GAACCATTTATATAGAGCATATACCAGGACATAAGAAAAGTCTACATAATTTTTTAAAGTATTGAACATATATATAAGCAGTACGTTGTCTGAACAAAATAAAATTCAATTACAATAAGATATCTAGAAAATCCCCAAATAATTATAAATTTAGCAATGCTTTCCTAAGTAGCCTGTGGGTCCAAAAAGAAAAAGCACAAAGGAAATTAGAAAATAGTGTGCACTGAGTATTAAGGAAAGCACAAGAAAAATATCACAGGATGCAGATTAAGCAGTGCTTAGAAAATTTTCAGCTTCAAAGCAAATATTAGGGAAAACTTGTAAAATCAATCAACTAAGCTTCCATGTTAAGAAGCTCAAAAACTCAGAGCAAATTGAATATTAAGTAATTAAAAAACAATGCAATTTAAGAAGGAGCCAAAGTCAGCGAGCTGGCAAAAGAACAAATAGAGAGGAAAAGTGGGCAACTCAACATCACAGTGAGTGATCAGAGAGTCAGGGCTGGATCCCAGCTCTTCCCCAGGCTGGAACGAGTCATCTCCCTTCATCCACAGATTACTGAGCAGCTGAAGGAGACACAAAGGTGTACGTGGGAAGGAGTCAGGCCTCATGGGGATGTGTGCAGTTAAAACCCTGGGGATGCTGAAAGGAAGGACCATACAGAGCGGTGTGAGGGCCAAGTCTTCCATTACCTGACACTGGAAGCCACGTGGTTAAAACCCTGGGGATGCTGAAAGGAAGGACCATACAGAGCGGTGTGAGGGCCAAGTCTTCCATTACCTGACACTGGAAGCCATGTGGTTAAAACCCTGGGGATGCTGAAAGGAAGGACCATACAGAGCGGTGTGAGGGCCAAGTCTTCCATTACCTGACACTGGAAGCCACGTGGTTAAAACCCTGGGGATGCTGAAAGGAAGGACCATACAGAGCGGTGTGAGGGCCAAGTCTTCCATTACCTGACACTGGAAGCCACGTGGTTAAAACCCTGGGGATGCTGAAAGGAAGGACCATACAGAGCGGTGTGAGGGCCAAGTCTTCCATTACCTGACACTGGAAGCCACGTGGTTAAAACCCTGGGGATGCTGAAAGGAAGGACCATACAGAGCGGTGTGAGGGCCAAGTCTTCCATTACCTGACACTGGAAGCCACGTGGACAATCCAGAAGATGACTCACTTTGGCAGCCCTGAGAGTTAAAAACCAGTTTCCTTAGGCAAGACATTAACCTCTCTATGCTGTAATTTCACCCTTTGCAAAATGGGGAAATAGCAATGCCTCAACAACAGGGTTACTGTGAGGATGAATTAGGATGACATAGGTGAGGGGCCTGGCGGGGGTGGTGAGCACACCACAAAGGAATGCACACTGCTTTGGTCATTGCTGCTGATGTCTGAAGCAGGAAAAGGTGGTCAGGGCCATCCCTCCTGCCCCACTCAACCTTTTCTCTCCTCCCTCACCAGGGCTCTGATAGGCTCTTTCAGCTCCTGACCCTCTCCCTCTAGGATGCAGGTTCAGCCTGAGCCTGAGTCCACTTTTCTGAGGTTGAGCAACACAATTAGAATATGTGGAAAATCTGTAAACAGACACCAGCAAAGAGCCAGATGCTCCCTGGAGCCAGTCCAAGAACAATTAAGCAGCCCTTTGAAGACTAACTGAGCTGGGGGCAGTCAAGAGCTTGTCAGCTCCAGGCAGCAAGATCTCAACCTTCAGGGGCAGGGAGCACAAACCTCTCTCCCTTCCTCTCTCTCTCTGAAAGCTAAATAACAAAATATCAGCCCCTCCCAAAGGCACAGTGGTGAGATGAGGGCCACCAAAAGGCCTGCTTGGCAGGACACCCTGTCAGGTTTTGGGGAGAGAAGGGCAGAACCAGTAGCCTGCAGGTCACACTTGGCCTTTAAGGTGATCATTCATATCATTACAGTTATTATTGCTCACATGGCATTTTAAAAATCTGAATTAATTACCATCACTGAAGGATGTTGCATTTTCACATTCAAACTCACATACCCAGATTCTCTGGAGGAAGCCGTGTGTAAGGCCACAATGAGCACACACGTTCCACAAGCCACAGTGGGCTAGAGCTGAGGAGCTGCCCCTGGGAGAGTGGGTGCATCAGAATTTGCCACAGTAAGTTCCACCCCTGTGGTTTCCCCATCCTCACGCTGGCATTTCTGTCATTGCCTCTTTCTCACTTTAAACACCTGCTGGCCTATTTGTAAATTTGAGTTTACAACCTCTGCTTTAAAACAGCCCACATTTATTAGATAAAGGAAATGAGGCCTGGGAGGGAAACTGAGGAAAGAACTTGCTGAGGCCATCATCCGAGCCGAAACAAGTACAACTGCACAAGCTAGAGAACGCTGTTGTAAACCAAAAATAAAATAGGGCCCCCTAATCATCTGAATGGACACCCTCCTAAACCAGGGCTCTTTAAATTTAATCTGAGAGAGCTGGATGCAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCAAGTGGATCACTGAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGA G 348 PASS - - - - - Del - D 139963992 139966547 2550 33 647.548 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 10 2 0 0 16 13 26 15 10 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454541136 9 949368 GA G 300 PASS DMRT1 CCDS6442.1 r.? - - Del intronic D 949368 949378 1 12 270.832 - - 9 1 1 DMRT1|CCDS6442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMRT1|CCDS6442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 2 3 2 5 15 21 15 21 2 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454545725 9 15112574 AAGAT A 360 PASS - - - - - Del - D 15112574 15112583 4 16 324.998 - - 2 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 3 5 26 22 26 22 3 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454547564 9 20078104 GA G 600 PASS - - - - - Del - D 20078104 20078112 1 35 541.061 - - 7 1 1 - - ./. 0 0 0 0 7 7 9 7 0 0 ./. 4 6 4 7 11 20 16 22 4 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454550522 9 29939337 TG T 300 PASS - - - - - Del - D 29939337 29939340 1 6 270.832 - - 2 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 0 5 1 5 20 21 20 21 1 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454561305 9 81157717 AGGATTTTT ATC 290 PASS - - - - - Complex - DI 81157718 81157725 8 36 0 - - 0 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 5 5 0 0 22 29 22 29 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454561306 9 81158208 AT A 329 PASS - - - - - Del - D 81158208 81158213 1 15 324.998 - - 4 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 2 9 6 24 25 24 25 9 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454561398 9 81485727 GCTG GA 718 PASS - - - - - Complex - DI 81485728 81485730 3 56 0 - - 0 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 6 7 0 0 27 22 27 22 6 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454571220 9 111940393 ACTATGT AAAC 261 PASS EPB41L4B CCDS43859.1 r.? - - Complex intronic DI 111940394 111940399 6 30 0 - - 0 1 1 EPB41L4B|CCDS43859.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 EPB41L4B|CCDS43859.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 4 0 0 20 19 20 19 5 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454572023 9 114239798 GAC G 300 PASS KIAA0368 CCDS48006.1 r.? - - Del intronic D 114239798 114239816 2 12 270.832 - - 8 1 1 KIAA0368|CCDS48006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0368|CCDS48006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 3 2 3 21 20 21 20 2 3 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454582341 X 5638119 TCATTTACATTAGGTATTTCTCCTAACGCTATCCCTCCCCCCTTCCCC T 261 PASS - - - - - Del - D 5638119 5638169 47 30 487.95 - - 1 1 1 - - ./. 0 0 0 0 17 5 17 5 0 0 ./. 4 5 0 0 22 11 25 15 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454583667 X 10462892 AAAGGATCAT A 290 PASS MID1 CCDS14138.1 r.? - - Del intronic D 10462892 10462905 9 36 539.759 - - 1 1 1 MID1|CCDS14138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MID1|CCDS14138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 5 5 5 7 26 26 26 26 5 7 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454583988 X 12344765 GCATTCCCT G 290 PASS FRMPD4 CCDS35201.1 r.? - - Del intronic D 12344765 12344775 8 35 542.167 - - 1 1 1 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMPD4|CCDS35201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 9 3 9 0 0 ./. 6 4 6 5 21 17 21 17 6 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454584561 X 14245002 AC A 300 PASS - - - - - Del - D 14245002 14245005 1 10 271.083 - - 2 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 4 1 6 22 21 22 21 1 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454586038 X 20008759 GC G 449 PASS AL732366.3 ENST00000500992 r.279delG - - Del non-coding variant D 20008759 20008763 1 24 432.529 - - 3 1 1 AL732366.3|ENST00000500992|r.279delG|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 AL732366.3|ENST00000500992|r.279delG|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 5 5 5 15 21 15 21 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454587771 X 26261438 CAAG C 358 PASS - - - - - Del - D 26261438 26261447 3 18 379.517 - - 2 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 2 5 2 29 21 29 21 6 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454588624 X 29221506 C CT 600 PASS IL1RAPL1 CCDS14218.1 r.? - - Ins intronic I 29221506 29221515 1 27 536.146 - - 8 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 8 6 12 19 36 19 36 6 12 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454592066 X 42726466 T TA 480 PASS - - - - - Ins - I 42726466 42726476 1 24 428.917 - - 9 1 1 - - ./. 0 0 0 0 10 16 10 17 0 0 ./. 3 5 4 5 24 32 24 32 4 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454592891 X 45876585 AGGGAGGTT A 261 PASS - - - - - Del - D 45876585 45876596 8 24 486.746 - - 1 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 7 2 9 17 26 17 26 2 9 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454594144 X 50713591 C CA 360 PASS - - - - - Ins - I 50713591 50713601 1 15 321.688 - - 9 1 1 - - ./. 0 0 0 0 5 10 6 10 0 0 ./. 4 2 4 2 23 24 23 26 4 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454594855 X 54184242 GT G 420 PASS FAM120C CCDS14356.1 r.? - - Del intronic D 54184242 54184247 1 20 379.517 - - 4 1 1 FAM120C|CCDS14356.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM120C|CCDS14356.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 4 4 6 16 23 16 23 4 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454595139 X 55549812 C CACACATATATGTATATATATGTATATATATACACATATGTGTGTGT 420 PASS - - - - - Ins - I 55549812 55549823 46 14 185.653 - - 0 1 - - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 6 1 0 0 26 27 26 27 6 1 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454595371 X 56576709 AC A 267 PASS - - - - - Del - D 56576709 56576713 1 35 542.167 - - 3 1 1 - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 6 4 7 4 19 26 20 26 8 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454598672 X 75898388 TA T 346 PASS - - - - - Del - D 75898388 75898393 1 15 325.3 - - 4 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 4 4 6 20 21 20 21 4 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454599055 X 77476170 CAGA C 449 PASS - - - - - Del - D 77476170 77476176 3 21 433.733 - - 1 1 1 - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 2 6 3 6 17 18 17 18 3 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454599168 X 77918745 GA G 420 PASS ZCCHC5 CCDS14440.1 r.? - - Del upstream D 77918745 77918753 1 14 379.517 - - 7 1 1 ZCCHC5|CCDS14440.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZCCHC5|CCDS14440.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 4 9 4 0 0 ./. 1 6 3 6 15 15 15 15 3 6 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454604679 X 98785997 GA G 420 PASS - - - - - Del - D 98785997 98786004 1 20 379.517 - - 6 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 3 4 4 22 25 22 25 4 4 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454605819 X 103265776 G GA 300 PASS H2BFWT CCDS35362.1 r.836_837insu c.? p.? Ins 3'UTR variant I 103265776 103265781 1 12 268.073 - - 4 1 1 H2BFWT|CCDS35362.1|r.836_837insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 H2BFWT|CCDS35362.1|r.836_837insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 2 5 2 22 13 23 14 5 2 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454614628 X 144839280 AG A 420 PASS - - - - - Del - D 144839280 144839283 1 20 379.517 - - 2 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 3 5 5 28 19 28 19 5 5 1 1 1 1 1 1 1 1 2269362 PD14434a PD14434b 2454615280 X 147290134 C CA 420 PASS - - - - - Ins - I 147290134 147290140 1 20 375.302 - - 5 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 4 3 4 5 14 21 14 21 4 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708689320 1 28162121 GAAACTGGCTAAGTGATTGTTTAAGGAAAAGAGTGTGACCCACAGTACTTATTCTCTCCTTAAAATATTCCTTGCCATATGGTGCATTTTTTGATGTAAGTAGAATGAAGAAAATATATAATGTGGTTAAAACAGCTTAGACTCTGAAGCCAGACAAATCTGAATTTCTAACCCGGCCCACAAGTATCTAACTGTGTGAACTTGAGTATGTTAATTTCTTTATGCCTCAATTTTGTCATTTATAAAAATAGGAAGAGAATAGTATTACCCACCTCATAGGGTGGTTGTGAGGATGAAATGATATAATGTAAAACTCATAGCATAGTGTGTGGCATAGAAGCGCCTAGCAGTTGTTACTGT G 261 PASS PPP1R8 CCDS312.1 r.? - - Del intronic D 28162121 28162483 359 24 482.248 - - 1 1 1 PPP1R8|CCDS312.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PPP1R8|CCDS312.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 7 0 0 19 19 21 26 2 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708693750 1 41029590 C CA 360 PASS - - - - - Ins - I 41029590 41029598 1 12 318.689 - - 7 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 1 5 2 6 12 21 12 21 2 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708706834 1 80198114 GT G 420 PASS - - - - - Del - D 80198114 80198119 1 14 376.018 - - 4 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 1 6 1 6 20 19 20 19 1 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708713590 1 98888306 A AT 300 PASS - - - - - Ins - I 98888306 98888315 1 12 261.962 - - 8 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 2 3 3 34 32 34 32 3 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708716363 1 106278364 GT G 1140 PASS - - - - - Del - D 106278364 106278372 1 108 1020.62 - - 7 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 11 8 12 12 30 33 30 33 12 12 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708717174 1 108856469 G GT 480 PASS - - - - - Ins - I 108856469 108856477 1 21 423.112 - - 7 1 1 - - ./. 0 0 0 0 14 9 15 9 0 0 ./. 2 6 5 9 19 28 19 28 5 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708720290 1 117943253 C CT 600 PASS MAN1A2 CCDS895.1 r.? - - Ins intronic I 117943253 117943257 1 35 531.148 - - 3 1 1 MAN1A2|CCDS895.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAN1A2|CCDS895.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 4 7 6 17 13 17 13 7 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708725805 1 149097570 G GA 480 PASS - - - - - Ins - I 149097570 149097580 1 24 424.918 - - 9 1 1 - - ./. 0 0 0 0 13 8 14 8 0 0 ./. 3 5 4 9 34 38 34 38 4 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708731981 1 161351449 CTCTACTAAAA C 667 PASS - - - - - Del - D 161351449 161351460 10 150 1228.26 - - 1 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 9 14 11 14 22 30 22 30 11 14 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708734268 1 166693686 GT G 1680 PASS - - - - - Del - D 166693686 166693690 1 225 1503.47 - - 3 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 14 14 25 20 37 29 37 29 25 20 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708736817 1 172454622 GAATGATATTTCTTTTAGAGAT G 406 PASS - - - - - Del - D 172454622 172454645 21 64 752.036 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 7 7 6 6 24 22 25 23 7 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708745773 1 192053587 C CT 300 PASS - - - - - Ins - I 192053587 192053597 1 12 263.166 - - 9 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 3 2 3 3 52 44 52 44 3 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708750919 1 203211349 CT C 420 PASS - - - - - Del - D 203211349 203211355 1 18 376.018 - - 5 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 2 5 3 35 26 35 26 5 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708754855 1 211874417 TA T 360 PASS - - - - - Del - D 211874417 211874419 1 7 318.689 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 0 6 0 7 34 45 34 45 0 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708756526 1 215178270 CCT C 300 PASS KCNK2 CCDS41466.1 r.? - - Del upstream D 215178270 215178285 2 12 268.584 - - 7 1 1 KCNK2|CCDS41466.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KCNK2|CCDS41466.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 21 10 21 0 0 ./. 2 3 2 3 34 43 34 43 2 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708756951 1 216280740 CT C 2280 PASS USH2A CCDS31025.1 r.? - - Del intronic D 216280740 216280743 1 375 2037.03 - - 2 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 14 24 22 36 41 60 41 60 22 36 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708759423 1 222060519 GGT G 300 PASS - - - - - Del - D 222060519 222060534 2 10 267.38 - - 7 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 1 4 1 40 24 40 24 5 1 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708760654 1 224579077 A AC 360 PASS WDR26 CCDS31037.1 r.? - - Ins intronic I 224579077 224579078 1 7 315.678 - - 0 1 - WDR26|CCDS31037.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR26|CCDS31037.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 6 0 1 0 44 41 45 41 7 0 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708765518 1 235096329 C CAA 269 PASS - - - - - Ins - I 235096329 235096338 2 6 258.951 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 0 5 1 0 41 30 42 30 1 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708766280 1 236308301 CGGCCCAGGGGCCCA C 696 PASS GPR137B CCDS1609.1 r.? - - Del intronic D 236308301 236308316 14 169 1287.4 - - 1 1 1 GPR137B|CCDS1609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR137B|CCDS1609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 12 12 16 17 31 35 31 35 16 17 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708766939 1 237226904 ACT A 360 PASS RYR2 ENST00000366574 r.? - - Del intronic D 237226904 237226921 2 12 322.301 - - 8 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 5 1 6 1 33 37 33 37 6 1 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708767748 1 238863819 C CA 360 PASS - - - - - Ins - I 238863819 238863829 1 15 318.087 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 4 3 7 41 43 41 44 3 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708767757 1 238884463 T TGTGA 358 PASS - - - - - Ins - I 238884463 238884469 4 18 359.16 - - 1 1 1 - - ./. 0 0 0 0 15 24 15 24 0 0 ./. 5 2 6 3 33 42 33 42 6 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708768880 1 241145420 T TA 269 PASS RGS7 CCDS31071.1 r.? - - Ins intronic I 241145420 241145427 1 12 265.574 - - 6 1 1 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 3 2 6 2 34 32 35 32 6 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708770188 1 243547415 G GA 300 PASS SDCCAG8 CCDS31075.1 r.? - - Ins intronic I 243547415 243547425 1 12 263.768 - - 9 1 1 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 3 2 3 43 35 44 35 2 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708772279 1 247215842 G GT 360 PASS ZNF670 CCDS31087.1 r.? - - Ins intronic I 247215842 247215852 1 16 317.485 - - 9 1 1 ZNF670|CCDS31087.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF670|CCDS31087.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 3 1 0 38 40 38 40 3 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708773982 10 2124225 TGG T 300 PASS - - - - - Del - D 2124225 2124228 2 10 269.865 - - 2 1 - - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 1 4 2 4 19 21 19 21 2 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708788509 10 37126053 CTAAT C 420 PASS - - - - - Del - D 37126053 37126058 4 20 377.209 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 3 4 6 5 26 27 26 27 6 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708791583 10 45416987 AT A 1080 PASS TMEM72 CCDS41504.1 r.? - - Del intronic D 45416987 45416990 1 96 970.911 - - 2 1 1 TMEM72|CCDS41504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM72|CCDS41504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 11 7 12 8 33 29 33 29 12 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708793556 10 53717788 A AT 600 PASS PRKG1 CCDS7244.1 r.? - - Ins intronic I 53717788 53717797 1 36 533.709 - - 8 1 1 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 5 5 6 7 32 40 32 40 6 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708793709 10 54129374 CAG C 780 PASS - - - - - Del - D 54129374 54129379 2 44 701.047 - - 2 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 10 5 10 22 31 22 31 5 10 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708795339 10 57991030 T TA 420 PASS - - - - - Ins - I 57991030 57991039 1 18 372.994 - - 8 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 2 5 3 7 16 26 16 27 3 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708802237 10 75898299 ACAATCATTT A 261 PASS AP3M1 CCDS7342.1 r.? - - Del upstream D 75898299 75898312 9 28 479.736 - - 1 1 1 AP3M1|CCDS7342.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 AP3M1|CCDS7342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 3 8 4 22 15 22 15 8 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708805887 10 87563816 G GA 840 PASS GRID1 CCDS31236.1 r.? - - Ins intronic I 87563816 87563825 1 63 747.193 - - 8 1 1 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 8 6 11 9 37 29 38 29 11 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708816635 10 118025393 T TC 420 PASS GFRA1 CCDS44481.1 r.? - - Ins intronic I 118025393 118025396 1 20 373.596 - - 2 1 1 GFRA1|CCDS44481.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GFRA1|CCDS44481.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 5 17 5 0 0 ./. 4 3 5 5 18 16 18 17 5 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708817073 10 119167476 ACT A 300 PASS - - - - - Del - D 119167476 119167481 2 10 269.865 - - 2 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 1 4 2 6 19 34 19 34 2 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708820072 10 127219532 G GA 420 PASS - - - - - Ins - I 127219532 127219541 1 20 373.596 - - 8 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 3 4 3 6 24 23 24 24 3 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708829964 11 16963333 T TA 600 PASS PLEKHA7 CCDS31434.1 r.? - - Ins intronic I 16963333 16963341 1 27 534.067 - - 7 1 1 PLEKHA7|CCDS31434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLEKHA7|CCDS31434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 2 8 2 11 21 35 21 35 2 11 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708831456 11 20606614 A AAT 420 PASS - - - - - Ins - I 20606614 20606615 2 8 367.224 - - 0 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 0 7 1 0 29 39 29 39 1 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708831712 11 21210149 T TA 420 PASS NELL1 CCDS7855.1 r.? - - Ins intronic I 21210149 21210158 1 20 373.847 - - 8 1 1 NELL1|CCDS7855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NELL1|CCDS7855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 3 4 6 6 31 36 31 37 6 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708833631 11 25150466 ATGT A 464 PASS - - - - - Del - D 25150466 25150472 3 30 486.079 - - 1 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 5 6 5 31 26 31 26 6 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708837174 11 33490402 A AT 360 PASS - - - - - Ins - I 33490402 33490411 1 15 320.44 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 4 5 4 27 21 29 22 5 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708837383 11 33997535 T TA 360 PASS - - - - - Ins - I 33997535 33997545 1 15 319.236 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 2 5 5 30 23 30 23 5 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708839170 11 38713039 CAT C 300 PASS - - - - - Del - D 38713039 38713055 2 12 270.044 - - 7 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 2 3 2 3 50 40 50 40 2 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708840895 11 42319555 C CT 540 PASS - - - - - Ins - I 42319555 42319564 1 24 470.426 - - 8 1 1 - - ./. 0 0 0 0 16 9 17 10 0 0 ./. 7 2 10 2 41 22 42 23 10 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708841076 11 42774477 G GT 420 PASS - - - - - Ins - I 42774477 42774487 1 18 370.837 - - 9 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 5 4 7 41 50 41 50 4 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708848215 11 66066341 C CA 300 PASS TMEM151A CCDS8133.1 r.? - - Ins downstream I 66066341 66066349 1 6 261.013 - - 7 1 1 TMEM151A|CCDS8133.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TMEM151A|CCDS8133.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 24 15 25 15 0 0 ./. 5 0 7 2 64 46 64 46 7 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708848749 11 66703727 C CA 480 PASS PC CCDS8152.1 r.? - - Ins intronic I 66703727 66703736 1 25 426.652 - - 8 1 1 PC|CCDS8152.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PC|CCDS8152.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 4 5 5 26 45 26 45 5 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708851764 11 72342990 T TC 509 PASS PDE2A CCDS8216.1 r.? - - Ins intronic I 72342990 72342994 1 30 480.661 - - 3 1 1 PDE2A|CCDS8216.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE2A|CCDS8216.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 14 16 0 0 ./. 4 5 5 8 21 32 21 33 5 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708869853 11 127387878 AG A 600 PASS - - - - - Del - D 127387878 127387880 1 32 540.088 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 7 5 8 12 19 12 19 5 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708870032 11 128078909 C CT 660 PASS - - - - - Ins - I 128078909 128078911 1 40 587.474 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 7 7 8 12 14 12 14 7 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708877283 12 13223356 TG T 300 PASS KIAA1467 CCDS31750.1 r.? - - Del intronic D 13223356 13223359 1 12 270.319 - - 2 1 1 KIAA1467|CCDS31750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1467|CCDS31750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 7 20 7 0 0 ./. 2 3 4 6 22 14 22 14 4 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708893495 12 59553731 G GA 600 PASS - - - - - Ins - I 59553731 59553740 1 36 534.617 - - 8 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 5 5 6 9 28 31 28 31 6 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708893683 12 60331990 T TG 840 PASS - - - - - Ins - I 60331990 60331991 1 63 748.464 - - 0 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 8 6 11 9 30 29 31 29 11 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708898378 12 74149350 T TA 540 PASS - - - - - Ins - I 74149350 74149358 1 28 481.156 - - 7 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 6 4 8 26 32 26 33 4 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708902593 12 86890193 G GA 360 PASS - - - - - Ins - I 86890193 86890201 1 15 320.77 - - 7 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 4 3 6 31 19 31 19 3 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708903701 12 90750101 T TG 269 PASS - - - - - Ins - I 90750101 90750102 1 10 265.502 - - 0 1 - - - ./. 0 0 0 0 9 14 10 14 0 0 ./. 1 4 2 1 25 18 26 18 3 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708904362 12 92563416 CAAGTCTTAGAAGAATAAATATGATACATTT C 290 PASS AC025164.1 ENST00000499685 r.? - - Del intronic D 92563416 92563451 30 35 540.638 - - 1 1 1 AC025164.1|ENST00000499685|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC025164.1|ENST00000499685|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 25 13 25 0 0 ./. 6 4 5 4 19 22 19 22 6 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708905882 12 96045533 TGAG T 360 PASS - - - - - Del - D 96045533 96045541 3 16 324.383 - - 2 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 3 3 4 5 13 15 13 15 4 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708906396 12 97281808 GCTAA G 660 PASS - - - - - Del - D 97281808 97281817 4 36 594.1 - - 2 1 1 - - ./. 0 0 0 0 18 5 18 5 0 0 ./. 8 3 9 4 21 16 21 16 9 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708908284 12 102954873 TA T 441 PASS - - - - - Del - D 102954873 102954876 1 30 484.768 - - 2 1 1 - - ./. 0 0 0 0 23 11 23 11 0 0 ./. 4 5 6 6 13 22 13 22 6 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708910310 12 109343371 GA G 600 PASS SVOP ENST00000299134 r.? - - Del intronic D 109343371 109343379 1 32 540.638 - - 7 1 1 SVOP|ENST00000299134|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SVOP|ENST00000299134|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 7 7 9 17 27 17 27 7 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708912808 12 116706032 A AC 480 PASS MED13L CCDS9177.1 r.? - - Ins intronic I 116706032 116706033 1 21 427.694 - - 0 1 1 MED13L|CCDS9177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MED13L|CCDS9177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 8 9 0 0 ./. 2 6 3 8 17 24 17 24 3 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708917465 12 127741510 TTC T 420 PASS - - - - - Del - D 127741510 127741514 2 20 377.242 - - 1 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 3 6 3 29 21 29 21 6 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708917921 12 128824555 A AT 300 PASS - - - - - Ins - I 128824555 128824559 1 12 267.309 - - 3 1 1 - - ./. 0 0 0 0 16 18 17 19 0 0 ./. 3 2 6 2 21 12 21 12 6 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708918662 12 130618927 T TA 600 PASS - - - - - Ins - I 130618927 130618936 1 35 527.995 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 6 7 7 32 19 33 19 7 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708933992 13 54611701 A AT 720 PASS - - - - - Ins - I 54611701 54611708 1 49 642.754 - - 6 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 6 6 7 6 31 26 31 26 7 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708935056 13 57650463 CATT C 538 PASS - - - - - Del - D 57650463 57650468 3 35 541.649 - - 1 1 1 - - ./. 0 0 0 0 18 22 18 22 0 0 ./. 4 6 5 7 33 34 33 34 5 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708935487 13 58906733 C CA 360 PASS - - - - - Ins - I 58906733 58906740 1 15 320.775 - - 6 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 4 3 5 26 40 26 41 3 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708939776 13 70136439 CA C 960 PASS - - - - - Del - D 70136439 70136441 1 72 866.638 - - 1 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 5 11 6 11 22 30 22 30 6 11 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708940493 13 71973122 T TA 300 PASS - - - - - Ins - I 71973122 71973124 1 12 267.814 - - 1 1 1 - - ./. 0 0 0 0 21 11 21 11 0 0 ./. 3 2 7 5 26 21 26 21 7 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708949584 13 97052106 TCATAATGCCTA T 406 PASS HS6ST3 CCDS9481.1 r.? - - Del intronic D 97052106 97052121 11 63 754.696 - - 1 1 1 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 8 7 8 25 26 25 26 7 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708949968 13 98596950 GT G 600 PASS - - - - - Del - D 98596950 98596955 1 35 541.649 - - 4 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 6 5 6 20 20 20 20 5 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708952824 13 105743518 C CA 509 PASS - - - - - Ins - I 105743518 105743526 1 28 482.065 - - 7 1 1 - - ./. 0 0 0 0 21 20 21 20 0 0 ./. 3 6 3 7 25 25 25 25 3 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708957691 14 22829145 G GA 780 PASS TRAC ENST00000446346 r.? - - Ins intronic I 22829145 22829151 1 56 696.526 - - 5 1 1 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 23 19 23 0 0 ./. 7 6 8 9 36 33 36 33 8 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708958949 14 25982170 TTGAATGAATGAA T 377 PASS - - - - - Del - D 25982170 25982197 12 56 704.955 - - 6 1 - - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 7 6 7 6 30 32 30 32 8 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708961631 14 33600859 CCTAG C 418 PASS NPAS3 CCDS9645.1 r.? - - Del intronic D 33600859 33600865 4 21 433.819 - - 1 1 1 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 6 2 6 3 17 10 17 10 6 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708969768 14 55171351 GA G 720 PASS SAMD4A CCDS32084.1 r.? - - Del intronic D 55171351 55171356 1 40 650.728 - - 4 1 1 SAMD4A|CCDS32084.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SAMD4A|CCDS32084.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 9 6 10 15 25 15 25 6 10 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708975609 14 72271440 GTACATGATAAAAGTTCCTGTTGAATGC G 261 PASS - - - - - Del - D 72271440 72271469 27 30 488.046 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 4 1 2 10 18 14 20 5 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708976239 14 74067845 C CA 360 PASS - - - - - Ins - I 74067845 74067854 1 16 321.752 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 3 4 5 17 19 17 19 4 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708980925 14 86396592 GC G 900 PASS - - - - - Del - D 86396592 86396595 1 72 812.808 - - 2 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 7 8 9 9 27 18 27 18 9 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708981217 14 87097032 C CT 360 PASS - - - - - Ins - I 87097032 87097040 1 16 321.752 - - 7 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 3 4 6 23 42 24 43 4 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708990044 15 22307164 A AT 417 PASS - - - - - Ins - I 22307164 22307173 1 20 375.521 - - 8 1 1 - - ./. 0 0 0 0 26 24 26 24 0 0 ./. 3 4 7 5 55 57 55 58 7 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708992641 15 28206055 A AG 300 PASS OCA2 CCDS10020.1 r.? - - Ins intronic I 28206055 28206056 1 6 268.229 - - 0 1 1 OCA2|CCDS10020.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OCA2|CCDS10020.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 5 0 6 0 31 27 32 27 6 0 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708994194 15 33462770 A AC 300 PASS FMN1 ENST00000320930 r.? - - Ins intronic I 33462770 33462774 1 12 265.219 - - 3 1 1 FMN1|ENST00000320930|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FMN1|ENST00000320930|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 20 6 20 0 0 ./. 3 2 4 2 35 21 36 21 4 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2708994477 15 34126328 T TA 360 PASS RYR3 CCDS45210.1 r.? - - Ins intronic I 34126328 34126336 1 16 321.875 - - 7 1 1 RYR3|CCDS45210.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RYR3|CCDS45210.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 3 9 7 23 20 24 21 9 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709001651 15 53112929 GA G 660 PASS - - - - - Del - D 53112929 53112932 1 42 596.727 - - 2 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 5 6 7 9 28 25 28 25 7 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709005981 15 64524984 TG T 660 PASS CSNK1G1 CCDS10192.2 r.? - - Del intronic D 64524984 64524987 1 40 596.727 - - 2 1 1 CSNK1G1|CCDS10192.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSNK1G1|CCDS10192.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 23 16 23 0 0 ./. 7 4 8 6 20 16 20 16 8 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709020415 16 894468 AC A 660 PASS - - - - - Del - D 894468 894472 1 36 596.557 - - 3 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 8 6 8 23 47 23 47 6 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709024944 16 10143495 CAA C 689 PASS GRIN2A CCDS10539.1 r.? - - Del intronic D 10143495 10143499 2 49 648.983 - - 3 1 1 GRIN2A|CCDS10539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIN2A|CCDS10539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 6 7 7 27 36 27 36 7 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709026460 16 12804466 TCA T 420 PASS CPPED1 CCDS42120.1 r.? - - Del intronic D 12804466 12804469 2 18 379.627 - - 1 1 1 CPPED1|CCDS42120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPPED1|CCDS42120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 5 5 7 29 28 29 28 5 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709032695 16 26732262 TA T 300 PASS - - - - - Del - D 26732262 26732266 1 10 269.958 - - 3 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 1 4 2 7 26 33 26 33 2 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709038537 16 47228816 GA G 420 PASS ITFG1 CCDS10728.1 r.? - - Del intronic D 47228816 47228819 1 18 379.627 - - 2 1 1 ITFG1|CCDS10728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITFG1|CCDS10728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 2 5 5 10 8 10 8 5 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709042885 16 60873621 A AT 660 PASS - - - - - Ins - I 60873621 60873627 1 30 588.73 - - 5 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 9 2 12 5 27 10 28 10 12 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709043049 16 61609022 A AT 509 PASS - - - - - Ins - I 61609022 61609031 1 24 476.653 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 7 3 9 16 17 18 18 3 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709043366 16 62837619 T TA 360 PASS - - - - - Ins - I 62837619 62837628 1 16 320.578 - - 8 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 3 4 3 12 15 13 15 4 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709045545 16 70986584 C CA 600 PASS HYDIN2 CCDS42189.1 r.? - - Ins intronic I 70986584 70986591 1 35 536.304 - - 6 1 1 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 32 24 32 0 0 ./. 4 6 6 7 50 36 50 37 6 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709061491 17 21701711 TATAA T 389 PASS - - - - - Del - D 21701711 21701720 4 14 379.606 - - 2 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 6 1 7 2 23 16 23 16 7 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709066761 17 37574347 A AAAG 329 PASS MED1 CCDS11336.1 r.? - - Ins intronic I 37574347 37574350 3 7 310.325 - - 0 1 - MED1|CCDS11336.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MED1|CCDS11336.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 0 6 0 6 15 20 15 20 0 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709077130 17 62983233 GTATATA G 377 PASS - - - - - Del - D 62983233 62983242 6 50 704.983 - - 4 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 4 9 5 10 21 32 21 32 5 10 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709079370 17 68178622 A AT 540 PASS KCNJ2 CCDS11688.1 r.? - - Ins downstream I 68178622 68178631 1 28 482.647 - - 8 1 1 KCNJ2|CCDS11688.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 KCNJ2|CCDS11688.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 19 12 19 0 0 ./. 3 6 6 9 22 31 22 31 6 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709080737 17 71445763 TTC T 300 PASS SDK2 CCDS45769.1 r.? - - Del intronic D 71445763 71445767 2 6 262.117 - - 1 1 - SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 5 0 8 0 24 10 24 10 8 0 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709088446 18 8694878 T TG 300 PASS - - - - - Ins - I 8694878 8694888 1 12 267.1 - - 9 1 1 - - ./. 0 0 0 0 14 6 15 6 0 0 ./. 3 2 3 2 28 18 28 18 3 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709097165 18 36820985 G GA 300 PASS AC105201.1 ENST00000510201 r.? - - Ins intronic I 36820985 36820995 1 12 268.304 - - 9 1 1 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 16 25 17 0 0 ./. 3 2 3 2 23 38 23 38 3 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709098245 18 40111986 AAAG A 749 PASS - - - - - Del - D 40111986 40111992 3 54 704.816 - - 1 1 - - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 8 5 9 6 28 14 28 14 9 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709101578 18 50386548 TG T 840 PASS DCC CCDS11952.1 r.? - - Del intronic D 50386548 50386550 1 63 756.068 - - 1 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 8 6 9 6 38 19 38 19 9 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709106966 18 65287521 G GT 300 PASS AC114689.1 ENST00000500778 r.? - - Ins intronic I 65287521 65287528 1 12 268.304 - - 6 1 1 AC114689.1|ENST00000500778|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC114689.1|ENST00000500778|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 2 4 4 15 29 15 29 4 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709111353 18 76877937 A AT 540 PASS ATP9B CCDS12014.1 r.? - - Ins intronic I 76877937 76877944 1 30 482.948 - - 6 1 1 ATP9B|CCDS12014.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP9B|CCDS12014.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 4 8 5 29 16 29 16 8 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709112555 19 2190103 C CG 360 PASS DOT1L CCDS42460.1 r.? - - Ins intronic I 2190103 2190108 1 15 314.462 - - 4 1 1 DOT1L|CCDS42460.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOT1L|CCDS42460.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 4 4 4 15 14 15 14 4 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709113547 19 4457790 AT A 327 PASS UBXN6 CCDS12129.1 r.? - - Del upstream D 4457790 4457793 1 18 378.412 - - 2 1 - UBXN6|CCDS12129.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 UBXN6|CCDS12129.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 3 7 3 0 0 ./. 2 5 4 5 10 13 10 13 4 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709115965 19 9383211 G GA 300 PASS - - - - - Ins - I 9383211 9383219 1 10 268.574 - - 7 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 4 1 8 5 18 24 19 25 8 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709119826 19 17524538 AAAC A 269 PASS - - - - - Del - D 17524538 17524551 3 12 270.38 - - 4 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 2 3 5 7 14 24 14 24 5 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709120249 19 18383249 G GT 746 PASS KIAA1683 CCDS46017.1 r.? - - Ins intronic I 18383249 18383256 1 50 697.69 - - 6 1 1 KIAA1683|CCDS46017.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KIAA1683|CCDS46017.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 9 4 10 18 20 18 20 4 10 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709128836 19 41237298 TCACAGTCTGTGGGAAA T 319 PASS ITPKC CCDS12563.1 r.? - - Del intronic D 41237298 41237315 16 36 597.485 - - 1 1 1 ITPKC|CCDS12563.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITPKC|CCDS12563.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 3 8 3 7 22 20 22 21 3 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709137154 2 366535 T TA 300 PASS - - - - - Ins - I 366535 366542 1 12 265.393 - - 6 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 2 7 4 38 17 39 17 7 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709137583 2 1651023 G GA 720 PASS PXDN CCDS46221.1 r.? - - Ins intronic I 1651023 1651032 1 49 638.388 - - 8 1 1 PXDN|CCDS46221.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PXDN|CCDS46221.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 19 7 19 0 0 ./. 6 6 8 10 28 33 29 33 8 10 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709138424 2 4471790 CG C 600 PASS - - - - - Del - D 4471790 4471793 1 20 538.011 - - 2 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 9 1 14 2 25 18 25 18 14 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709148671 2 33587209 CACTT C 629 PASS LTBP1 CCDS33177.1 r.? - - Del intronic D 33587209 33587214 4 42 591.812 - - 1 1 1 LTBP1|CCDS33177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LTBP1|CCDS33177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 5 6 5 8 25 27 25 27 5 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709150989 2 39482824 A AT 480 PASS MAP4K3 CCDS1803.1 r.? - - Ins intronic I 39482824 39482831 1 24 425.592 - - 6 1 1 MAP4K3|CCDS1803.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAP4K3|CCDS1803.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 3 6 9 31 25 31 25 6 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709157345 2 56974202 TTG T 300 PASS - - - - - Del - D 56974202 56974222 2 10 269.005 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 1 4 1 26 24 26 24 4 1 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709157819 2 58354315 ATCCAAGTCTTGTGTTATTTCTTTC A 377 PASS VRK2 CCDS1859.1 r.? - - Del intronic D 58354315 58354340 24 56 699.414 - - 1 1 1 VRK2|CCDS1859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VRK2|CCDS1859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 6 7 6 7 24 28 24 28 6 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709159094 2 62070468 GCCAGACTGGTCTTGAATTCTTGACCTCAGGTGATCTACTCGCCTCGGCCTCTCAAAGTGCTGGGATTATGGGCATGAGCCACCGTGCCCTACCCTTTCAGTTCTTTTAATTGAAGCAACTAAAGAGATAAAACCCCATTTTCTCCATAAATATAAAATTTTTATTATGTTCTCAGTTGAGAAACAGTTGAAATTATTTATGATACTATGCATAAAAGGCTGCCAA G 261 PASS FAM161A CCDS42687.2 r.? - - Del intronic D 62070468 62070697 225 28 483.608 - - 1 1 1 FAM161A|CCDS42687.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM161A|CCDS42687.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 6 19 6 0 0 ./. 3 6 0 0 19 8 22 14 3 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709164481 2 78635183 TGCCTGGGGGCAGG T 261 PASS - - - - - Del - D 78635183 78635197 13 24 484.21 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 2 9 3 24 18 24 18 9 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709164754 2 79420352 G GT 480 PASS CTNNA2 CCDS42703.2 r.? - - Ins intronic I 79420352 79420359 1 16 423.786 - - 6 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 7 1 8 4 30 20 31 20 8 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709172499 2 104452669 TA T 472 PASS - - - - - Del - D 104452669 104452673 1 24 430.409 - - 3 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 5 3 7 5 17 19 17 19 7 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709173557 2 107591772 TA T 600 PASS - - - - - Del - D 107591772 107591782 1 35 538.011 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 4 7 6 24 26 24 26 7 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709191578 2 160585559 CAAG C 598 PASS MARCH7 CCDS2210.1 r.149_151delAAG c.27_29delAAG p.R11delR Del inframe D 160585559 160585568 3 42 591.812 - - 2 1 1 MARCH7|CCDS2210.1|r.149_151delAAG|c.27_29delAAG|p.R11delR|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 MARCH7|CCDS2210.1|r.149_151delAAG|c.27_29delAAG|p.R11delR|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 5 8 9 22 23 22 23 8 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709200084 2 185122755 TA T 600 PASS - - - - - Del - D 185122755 185122764 1 35 538.011 - - 8 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 4 8 5 27 23 27 23 8 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709200192 2 185417867 G GC 300 PASS - - - - - Ins - I 185417867 185417876 1 6 265.995 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 0 7 0 26 18 27 18 7 0 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709200270 2 185920962 CA C 660 PASS - - - - - Del - D 185920962 185920968 1 30 590.005 - - 5 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 9 5 10 20 21 20 21 5 10 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709217089 2 232505692 TG T 300 PASS - - - - - Del - D 232505692 232505696 1 12 265.995 - - 3 1 1 - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 2 3 2 3 17 19 17 19 2 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709222495 20 4413207 CA C 360 PASS - - - - - Del - D 4413207 4413211 1 15 326.319 - - 3 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 2 5 3 20 21 20 21 5 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709224981 20 11204491 T TA 420 PASS - - - - - Ins - I 11204491 11204499 1 20 376.491 - - 7 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 4 5 9 37 33 37 33 5 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709234169 20 37159414 ATTTTTAG A 493 PASS RALGAPB CCDS13305.1 r.? - - Del intronic D 37159414 37159423 7 88 920.958 - - 1 1 1 RALGAPB|CCDS13305.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RALGAPB|CCDS13305.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 10 7 12 8 26 25 26 25 12 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709243578 21 9510972 GAT G 420 PASS - - - - - Del - D 9510972 9510976 2 21 435.177 - - 1 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 6 2 10 3 29 40 29 40 10 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709246626 21 11129572 T TG 266 PASS - - - - - Ins - I 11129572 11129573 1 11 521.093 - - 0 1 1 - - ./. 0 0 0 0 96 136 98 140 0 0 ./. 0 10 0 1 148 240 151 249 0 10 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709259474 21 44944920 CCGATTTCTT C 377 PASS HSF2BP CCDS13697.1 r.? - - Del downstream D 44944920 44944930 9 56 707.162 - - 1 1 1 HSF2BP|CCDS13697.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 HSF2BP|CCDS13697.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 10 17 10 0 0 ./. 7 6 9 9 23 23 23 23 9 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709263499 22 22676647 A AC 432 PASS - - - - - Ins - I 22676647 22676653 1 21 432.231 - - 5 1 1 - - ./. 0 0 0 0 11 14 11 15 0 0 ./. 6 2 10 4 30 21 31 21 10 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709268084 22 34342944 T TG 300 PASS - - - - - Ins - I 34342944 34342945 1 12 268.338 - - 0 1 1 - - ./. 0 0 0 0 11 9 11 10 0 0 ./. 3 2 5 2 26 24 26 24 5 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709274661 22 50720935 C CGG 480 PASS PLXNB2 CCDS43035.1 r.? - - Ins intronic I 50720935 50720940 2 21 422.598 - - 4 1 1 PLXNB2|CCDS43035.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLXNB2|CCDS43035.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 2 6 2 6 15 29 15 29 2 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709276984 3 5535782 AAG A 687 PASS - - - - - Del - D 5535782 5535786 2 54 698.897 - - 1 1 1 - - ./. 0 0 0 0 10 5 11 6 0 0 ./. 5 8 10 10 12 15 13 19 10 10 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709284812 3 28888280 GTC G 300 PASS - - - - - Del - D 28888280 28888284 2 12 269.501 - - 1 1 - - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 2 6 3 16 14 16 14 6 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709285240 3 30146730 T TA 360 PASS - - - - - Ins - I 30146730 30146733 1 7 319.789 - - 2 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 6 0 9 1 28 21 28 21 9 1 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709286612 3 33751823 T TA 720 PASS CLASP2 ENST00000307312 r.? - - Ins intronic I 33751823 33751830 1 48 639.578 - - 6 1 1 CLASP2|ENST00000307312|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CLASP2|ENST00000307312|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 5 7 8 15 23 33 25 33 8 15 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709290597 3 46003822 TGG T 420 PASS FYCO1 CCDS2734.1 r.3536_3537delCC c.3330_3331delCC p.C1110fs*1 Del frameshift D 46003822 46003825 2 20 377.302 - - 2 1 1 FYCO1|CCDS2734.1|r.3536_3537delCC|c.3330_3331delCC|p.C1110fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 FYCO1|CCDS2734.1|r.3536_3537delCC|c.3330_3331delCC|p.C1110fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 5 17 5 17 0 0 ./. 4 3 6 6 16 15 16 15 6 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709292927 3 52368642 T TA 720 PASS DNAH1 CCDS46842.1 r.? - - Ins intronic I 52368642 52368652 1 49 639.578 - - 9 1 1 DNAH1|CCDS46842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAH1|CCDS46842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 6 6 9 8 24 23 24 23 9 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709302415 3 76363469 C CT 540 PASS ROBO2 ENST00000487694 r.? - - Ins intronic I 76363469 76363472 1 30 479.684 - - 2 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 4 8 5 30 17 30 18 8 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709320166 3 131963159 CA C 480 PASS CPNE4 ENST00000512055 r.? - - Del intronic D 131963159 131963164 1 25 431.202 - - 4 1 1 CPNE4|ENST00000512055|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CPNE4|ENST00000512055|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 16 7 16 0 0 ./. 4 4 7 4 25 23 25 23 7 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709325424 3 148475939 C CT 300 PASS - - - - - Ins - I 148475939 148475949 1 12 266.491 - - 9 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 3 2 3 31 34 32 34 2 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709327537 3 154078389 G GA 540 PASS GPR149 CCDS43162.1 r.? - - Ins intronic I 154078389 154078397 1 28 479.684 - - 7 1 1 GPR149|CCDS43162.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPR149|CCDS43162.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 6 5 7 22 21 22 21 5 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709329758 3 162039672 C CT 660 PASS - - - - - Ins - I 162039672 162039680 1 42 586.28 - - 7 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 6 5 10 5 32 22 32 22 10 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709330395 3 163418174 CT C 720 PASS - - - - - Del - D 163418174 163418183 1 45 646.803 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 8 5 10 20 31 20 31 5 10 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709330608 3 163890924 A AT 547 PASS MIR1263 ENST00000408324 r.? - - Ins upstream I 163890924 163890931 1 32 532.982 - - 6 1 1 MIR1263|ENST00000408324|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 MIR1263|ENST00000408324|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 ./. 0 0 0 0 23 18 24 18 0 0 ./. 7 3 7 5 25 33 25 33 7 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709333496 3 172704463 A AG 480 PASS SPATA16 CCDS3221.1 r.? - - Ins intronic I 172704463 172704472 1 21 426.385 - - 8 1 1 SPATA16|CCDS3221.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPATA16|CCDS3221.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 16 12 0 0 ./. 6 2 8 2 29 28 29 28 8 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709335077 3 177047465 TA T 360 PASS - - - - - Del - D 177047465 177047472 1 15 323.401 - - 6 1 - - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 2 4 3 7 15 17 15 17 3 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709335838 3 179206964 TTTACC T 269 PASS - - - - - Del - D 179206964 179206970 5 6 269.501 - - 1 1 1 - - ./. 0 0 0 0 14 1 14 1 0 0 ./. 5 0 5 0 23 0 23 0 5 0 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709339601 3 189947807 AAC A 300 PASS - - - - - Del - D 189947807 189947825 2 6 265.287 - - 8 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 0 5 0 5 24 21 24 21 0 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709348992 4 19375758 A AT 300 PASS - - - - - Ins - I 19375758 19375762 1 10 266.438 - - 3 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 1 6 1 23 23 25 24 6 1 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709358387 4 44025951 CA C 420 PASS - - - - - Del - D 44025951 44025961 1 18 377.227 - - 9 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 2 5 3 18 22 18 22 5 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709363748 4 60381567 G GA 538 PASS - - - - - Ins - I 60381567 60381574 1 36 532.875 - - 6 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 5 5 6 6 23 23 24 23 6 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709370340 4 78396353 C CA 480 PASS - - - - - Ins - I 78396353 78396363 1 21 426.3 - - 9 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 2 8 6 34 32 35 32 8 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709371715 4 82640132 AT A 780 PASS - - - - - Del - D 82640132 82640134 1 56 699.361 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 7 6 10 7 30 31 30 31 10 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709375721 4 94150312 G GA 269 PASS GRID2 CCDS3637.1 r.? - - Ins intronic I 94150312 94150322 1 12 262.825 - - 9 1 1 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 2 3 1 1 29 34 29 34 2 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709376788 4 97347814 AG A 300 PASS - - - - - Del - D 97347814 97347816 1 10 262.223 - - 1 1 - - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 1 8 1 26 16 26 16 8 1 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709379564 4 106453288 CA C 960 PASS - - - - - Del - D 106453288 106453290 1 80 862.233 - - 1 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 7 9 8 11 19 22 19 22 8 11 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709380660 4 110212184 C CT 1080 PASS COL25A1 CCDS43258.1 r.? - - Ins intronic I 110212184 110212186 1 99 959.176 - - 1 1 1 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 8 10 8 12 23 34 23 34 8 12 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709381082 4 111279899 A AC 300 PASS - - - - - Ins - I 111279899 111279901 1 12 254.999 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 5 2 32 28 32 28 5 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709382743 4 116175032 GAC G 314 PASS - - - - - Del - D 116175032 116175038 2 18 377.227 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 5 3 5 20 23 20 23 3 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709387746 4 129560230 CAG C 540 PASS - - - - - Del - D 129560230 129560236 2 30 485.006 - - 2 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 5 4 8 20 20 20 20 4 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709398188 4 161692765 G GA 360 PASS - - - - - Ins - I 161692765 161692772 1 15 319.725 - - 6 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 4 2 5 3 14 17 14 18 5 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709417644 5 23474846 C CA 840 PASS - - - - - Ins - I 23474846 23474851 1 63 746.691 - - 4 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 6 8 7 11 28 33 28 34 7 11 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709419026 5 27212539 A AT 540 PASS - - - - - Ins - I 27212539 27212544 1 28 480.016 - - 4 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 6 6 6 24 34 24 34 6 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709419541 5 28703359 A AT 780 PASS - - - - - Ins - I 28703359 28703367 1 54 693.356 - - 7 1 1 - - ./. 0 0 0 0 13 13 14 13 0 0 ./. 5 8 6 14 35 34 35 34 6 14 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709429370 5 59531871 CAAATT C 480 PASS PDE4D CCDS47032.1 r.? - - Del intronic D 59531871 59531881 5 24 431.497 - - 1 1 1 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 5 4 6 26 20 26 20 4 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709433544 5 72964795 G GT 720 PASS ENSG00000214944 CCDS47231.1 r.? - - Ins intronic I 72964795 72964805 1 48 640.021 - - 9 1 1 ENSG00000214944|CCDS47231.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENSG00000214944|CCDS47231.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 7 5 9 5 42 19 42 20 9 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709438562 5 85794903 C CA 780 PASS - - - - - Ins - I 85794903 85794910 1 50 693.356 - - 6 1 1 - - ./. 0 0 0 0 13 23 13 24 0 0 ./. 9 4 9 10 39 23 39 28 9 10 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709442597 5 99298492 TA T 540 PASS - - - - - Del - D 99298492 99298496 1 24 485.434 - - 3 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 2 7 2 8 14 25 14 25 2 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709446548 5 111933396 G GA 480 PASS - - - - - Ins - I 111933396 111933402 1 21 425.476 - - 5 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 2 6 4 8 20 30 21 30 4 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709452174 5 129793966 A AT 600 PASS - - - - - Ins - I 129793966 129793974 1 36 533.351 - - 7 1 1 - - ./. 0 0 0 0 24 16 24 16 0 0 ./. 5 5 6 5 28 21 29 22 6 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709455007 5 138872477 GA G 420 PASS - - - - - Del - D 138872477 138872481 1 20 377.56 - - 3 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 3 8 3 25 16 25 16 8 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709455389 5 139949134 T TG 480 PASS SLC35A4 CCDS4231.1 r.? - - Ins downstream I 139949134 139949144 1 21 417.048 - - 9 1 1 SLC35A4|CCDS4231.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 APBB3|CCDS4229.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 2 6 8 45 34 46 35 6 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709464714 5 164214541 AC A 300 PASS - - - - - Del - D 164214541 164214546 1 12 267.879 - - 4 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 4 3 19 28 19 28 4 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709469491 5 175751002 A AT 269 PASS C5orf25 CCDS4398.2 r.? - - Ins intronic I 175751002 175751003 1 10 255.236 - - 0 1 - C5orf25|CCDS4398.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C5orf25|CCDS4398.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 1 4 0 0 23 39 23 39 1 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709469737 5 176238614 T TTG 540 PASS UNC5A CCDS34299.1 r.? - - Ins intronic I 176238614 176238615 2 28 472.791 - - 0 1 1 UNC5A|CCDS34299.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UNC5A|CCDS34299.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 6 0 0 19 26 19 26 3 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709473600 6 4383353 T TG 300 PASS - - - - - Ins - I 4383353 4383355 1 12 266.124 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 3 3 16 21 16 21 3 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709480872 6 21616432 TGA T 300 PASS - - - - - Del - D 21616432 21616436 2 10 269.736 - - 1 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 4 1 5 1 18 12 18 12 5 1 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709486185 6 33004618 A AT 900 PASS - - - - - Ins - I 33004618 33004628 1 66 800.178 - - 9 1 1 - - ./. 0 0 0 0 18 16 18 17 0 0 ./. 10 5 12 8 27 27 27 27 12 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709497275 6 64611202 TAGAC T 418 PASS EYS CCDS47445.1 r.? - - Del intronic D 64611202 64611210 4 21 431.578 - - 1 1 1 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 6 2 9 8 22 28 22 28 9 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709497939 6 66569708 T TA 817 PASS - - - - - Ins - I 66569708 66569710 1 55 746.833 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 10 6 11 19 31 19 31 6 11 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709505260 6 87295704 C CTA 420 PASS - - - - - Ins - I 87295704 87295717 2 20 369.202 - - 6 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 4 3 5 23 27 23 27 3 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709505394 6 87689429 C CA 449 PASS HTR1E CCDS5006.1 r.? - - Ins intronic I 87689429 87689438 1 24 423.751 - - 8 1 1 HTR1E|CCDS5006.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 HTR1E|CCDS5006.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 3 5 6 6 19 21 19 22 6 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709506109 6 90015045 G GA 540 PASS GABRR2 CCDS5020.2 r.? - - Ins intronic I 90015045 90015053 1 30 480.107 - - 7 1 1 GABRR2|CCDS5020.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GABRR2|CCDS5020.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 5 8 8 30 35 30 35 8 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709506571 6 91344223 AT A 540 PASS - - - - - Del - D 91344223 91344231 1 30 485.526 - - 7 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 4 7 6 21 21 21 21 7 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709512288 6 108572839 C CA 660 PASS SNX3 CCDS5064.1 r.? - - Ins intronic I 108572839 108572847 1 42 584.389 - - 7 1 1 SNX3|CCDS5064.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNX3|CCDS5064.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 6 5 6 8 26 32 26 32 6 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709516046 6 119142113 C CT 269 PASS MCM9 ENST00000316316 r.? - - Ins intronic I 119142113 119142123 1 25 426.762 - - 9 1 1 MCM9|ENST00000316316|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MCM9|ENST00000316316|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 10 15 11 0 0 ./. 4 4 8 4 23 29 23 29 8 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709522007 6 138120522 GAGCTAGCTGGCA G 290 PASS - - - - - Del - D 138120522 138120548 12 27 539.473 - - 2 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 8 2 8 16 25 16 25 2 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709522060 6 138285035 T TA 300 PASS - - - - - Ins - I 138285035 138285044 1 12 266.726 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 2 4 2 25 25 26 26 4 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709522145 6 138501727 T TA 300 PASS KIAA1244 CCDS5189.2 r.? - - Ins intronic I 138501727 138501737 1 12 266.726 - - 9 1 1 KIAA1244|CCDS5189.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA1244|CCDS5189.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 3 2 3 2 26 26 26 26 3 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709529089 6 158893609 CTGTGCTATTCAAG C 559 PASS TULP4 CCDS34561.1 r.? - - Del intronic D 158893609 158893623 13 110 1020.18 - - 1 1 1 TULP4|CCDS34561.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TULP4|CCDS34561.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 9 10 7 10 20 22 22 22 9 10 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709549915 7 45321451 A AT 300 PASS - - - - - Ins - I 45321451 45321461 1 12 266.877 - - 9 1 1 - - ./. 0 0 0 0 17 15 17 16 0 0 ./. 2 3 2 3 33 27 33 27 2 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709556230 7 63517645 C CA 360 PASS - - - - - Ins - I 63517645 63517651 1 7 319.049 - - 5 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 6 0 8 3 21 21 21 23 8 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709570893 7 103410149 TG T 720 PASS RELN CCDS47680.1 r.? - - Del intronic D 103410149 103410153 1 40 647.73 - - 3 1 1 RELN|CCDS47680.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RELN|CCDS47680.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 9 3 10 3 32 19 32 19 10 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709575301 7 116980573 AT A 658 PASS - - - - - Del - D 116980573 116980578 1 45 647.73 - - 4 1 - - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 8 4 12 5 28 29 28 29 12 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709576147 7 119833495 C CT 300 PASS - - - - - Ins - I 119833495 119833505 1 12 266.877 - - 9 1 1 - - ./. 0 0 0 0 23 18 24 18 0 0 ./. 3 2 3 2 26 29 26 29 3 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709576250 7 120236178 CT C 300 PASS KCND2 CCDS5776.1 r.? - - Del intronic D 120236178 120236181 1 12 269.888 - - 2 1 1 KCND2|CCDS5776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCND2|CCDS5776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 4 3 30 17 30 17 4 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709578123 7 125458284 AC A 298 PASS - - - - - Del - D 125458284 125458286 1 16 313.028 - - 1 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 3 3 3 7 23 41 23 41 3 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709578587 7 126833821 TA T 660 PASS GRM8 CCDS5794.1 r.? - - Del intronic D 126833821 126833824 1 22 592.548 - - 2 1 1 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 10 1 11 3 28 15 28 15 11 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709579980 7 130103496 CT C 420 PASS - - - - - Del - D 130103496 130103501 1 20 377.843 - - 4 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 4 4 7 24 18 24 18 4 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709586591 7 148799571 AC A 360 PASS ZNF398 CCDS47739.1 r.? - - Del intronic D 148799571 148799573 1 15 323.865 - - 1 1 1 ZNF398|CCDS47739.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF398|CCDS47739.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 4 3 4 19 25 19 25 3 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709609535 8 54351013 TTC T 540 PASS - - - - - Del - D 54351013 54351017 2 30 486.395 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 5 5 8 25 25 25 25 5 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709611264 8 59812158 A AT 600 PASS TOX CCDS34897.1 r.? - - Ins intronic I 59812158 59812168 1 32 533.214 - - 9 1 1 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 3 7 7 8 23 37 25 37 7 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709613761 8 67934195 C CT 1020 PASS LRRC67 CCDS34902.1 r.? - - Ins intronic I 67934195 67934204 1 88 908.511 - - 8 1 1 LRRC67|CCDS34902.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LRRC67|CCDS34902.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 21 18 22 0 0 ./. 10 7 15 7 31 19 31 19 15 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709615045 8 71820197 G GT 300 PASS - - - - - Ins - I 71820197 71820204 1 12 267.209 - - 6 1 1 - - ./. 0 0 0 0 11 15 12 15 0 0 ./. 3 2 7 3 19 20 21 20 7 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709615100 8 72065445 AG A 389 PASS - - - - - Del - D 72065445 72065448 1 20 378.307 - - 2 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 4 5 4 14 22 14 22 5 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709615936 8 74557482 ACCAAGT A 348 PASS STAU2 CCDS6214.1 r.? - - Del intronic D 74557482 74557489 6 45 648.526 - - 1 1 1 STAU2|CCDS6214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STAU2|CCDS6214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 8 4 9 5 26 27 26 27 9 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709617432 8 79044405 GTATA G 389 PASS - - - - - Del - D 79044405 79044414 4 20 378.307 - - 4 1 - - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 4 6 8 18 31 18 31 6 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709626697 8 107325336 A AT 300 PASS OXR1 CCDS47909.1 r.? - - Ins intronic I 107325336 107325346 1 10 267.209 - - 9 1 1 OXR1|CCDS47909.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 OXR1|CCDS47909.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 14 15 0 0 ./. 1 4 4 5 23 35 23 35 4 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709628117 8 111473945 AAG A 300 PASS - - - - - Del - D 111473945 111473964 2 10 270.219 - - 9 1 - - - ./. 0 0 0 0 22 11 22 11 0 0 ./. 1 4 1 4 29 25 29 25 1 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709647077 9 20663228 T TA 600 PASS KIAA1797 CCDS34993.1 r.? - - Ins intronic I 20663228 20663235 1 36 535.122 - - 6 1 1 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 5 5 7 17 23 17 23 5 7 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709650046 9 30412995 G GT 300 PASS - - - - - Ins - I 30412995 30413005 1 12 267.561 - - 9 1 1 - - ./. 0 0 0 0 13 14 14 14 0 0 ./. 3 2 3 3 23 33 23 33 3 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709662589 9 85275549 TAG T 300 PASS - - - - - Del - D 85275549 85275567 2 10 269.367 - - 8 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 1 4 1 4 24 10 24 10 1 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709671398 9 112308357 CTA C 960 PASS - - - - - Del - D 112308357 112308361 2 80 865.828 - - 1 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 7 9 7 9 21 26 21 26 7 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709683956 X 8958113 GA G 480 PASS - - - - - Del - D 8958113 8958119 1 24 433.215 - - 5 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 3 9 5 25 18 25 18 9 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709689473 X 30324504 C CTA 540 PASS NR0B1 CCDS14223.1 r.? - - Ins intronic I 30324504 30324515 2 24 475.326 - - 5 1 1 NR0B1|CCDS14223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NR0B1|CCDS14223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 2 7 3 14 12 41 13 41 3 14 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709690177 X 32588647 AG A 540 PASS DMD CCDS14233.1 r.? - - Del intronic D 32588647 32588650 1 18 487.367 - - 2 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 8 1 9 3 21 32 21 32 9 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709695398 X 53257563 AAGCCAT A 261 PASS KDM5C CCDS14351.1 r.? - - Del upstream D 53257563 53257570 6 28 487.367 - - 1 1 1 KDM5C|CCDS14351.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KDM5C|CCDS14351.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 18 10 18 0 0 ./. 6 3 6 4 21 25 21 25 6 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709697521 X 66912848 G GA 540 PASS AR CCDS14387.1 r.? - - Ins intronic I 66912848 66912855 1 30 481.949 - - 6 1 1 AR|CCDS14387.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AR|CCDS14387.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 14 0 0 ./. 5 4 6 5 33 24 33 25 6 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709699895 X 76458089 G GA 780 PASS - - - - - Ins - I 76458089 76458094 1 54 694.342 - - 4 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 8 5 9 5 29 21 29 21 9 5 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709700077 X 77220919 AC A 420 PASS ATP7A CCDS35339.1 r.? - - Del intronic D 77220919 77220921 1 14 379.063 - - 1 1 1 ATP7A|CCDS35339.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ATP7A|CCDS35339.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 6 2 9 20 26 20 26 2 9 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709701397 X 82700785 C CT 898 PASS - - - - - Ins - I 82700785 82700792 1 65 856.196 - - 6 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 4 12 7 12 29 34 29 34 7 12 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709701482 X 83112961 G GT 300 PASS CYLC1 CCDS35341.1 r.? - - Ins upstream I 83112961 83112968 1 10 267.749 - - 6 1 1 CYLC1|CCDS35341.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CYLC1|CCDS35341.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 1 4 1 24 40 25 40 4 1 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709703199 X 88349320 G GAA 780 PASS - - - - - Ins - I 88349320 88349324 2 54 685.913 - - 3 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 8 7 11 26 29 26 30 7 11 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709703607 X 89683999 C CG 300 PASS - - - - - Ins - I 89683999 89684008 1 6 267.749 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 0 6 1 22 16 22 16 6 1 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709704938 X 94954054 ATTC A 749 PASS - - - - - Del - D 94954054 94954061 3 56 703.975 - - 2 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 7 6 10 8 32 34 32 34 10 8 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709706341 X 99898545 CT C 420 PASS SRPX2 CCDS14471.1 r.? - - Del upstream D 99898545 99898548 1 20 374.849 - - 2 1 1 SRPX2|CCDS14471.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SRPX2|CCDS14471.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 3 5 3 22 17 22 17 5 3 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709707485 X 104396863 T TA 480 PASS IL1RAPL2 CCDS14517.1 r.? - - Ins intronic I 104396863 104396871 1 24 428.399 - - 7 1 1 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 5 4 6 22 27 22 27 4 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709710027 X 115221725 T TA 426 PASS - - - - - Ins - I 115221725 115221733 1 25 426.593 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 4 5 6 16 19 17 19 5 6 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709710895 X 118130530 C CA 269 PASS LONRF3 CCDS14575.1 r.? - - Ins intronic I 118130530 118130538 1 12 267.147 - - 7 1 1 LONRF3|CCDS14575.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LONRF3|CCDS14575.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 13 17 0 0 ./. 3 2 3 2 28 33 29 33 3 2 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709716812 X 140039921 G GA 660 PASS - - - - - Ins - I 140039921 140039927 1 36 589.049 - - 5 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 8 3 11 4 23 15 23 15 11 4 1 1 1 1 1 1 1 1 2662604 PD14436a PD14436b 2709719207 X 148483044 T TA 420 PASS - - - - - Ins - I 148483044 148483053 1 20 374.849 - - 8 1 1 - - ./. 0 0 0 0 21 11 21 12 0 0 ./. 3 4 6 5 23 29 23 29 6 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770198430 1 2937914 GTC G 300 PASS ACTRT2 CCDS45.1 r.? - - Del upstream D 2937914 2937933 2 12 263.592 - - 9 1 1 ACTRT2|CCDS45.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ACTRT2|CCDS45.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 20 18 20 18 0 0 ./. 3 2 3 2 22 17 22 17 3 2 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770208382 1 27023211 ACGCGGGCCCTAGGCCCGCC A 319 PASS ARID1A CCDS285.1 r.689_707del19 c.318_336del19 p.A107fs*1 Del frameshift D 27023211 27023232 19 40 576.651 - - 1 1 1 ARID1A|CCDS285.1|r.689_707del19|c.318_336del19|p.A107fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ARID1A|CCDS285.1|r.689_707del19|c.318_336del19|p.A107fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 14 18 14 18 0 0 ./. 7 4 9 4 22 23 22 23 9 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770210524 1 32775348 TAGGTG T 329 PASS HDAC1 CCDS360.1 r.? - - Del intronic D 32775348 32775356 5 15 322.09 - - 1 1 1 HDAC1|CCDS360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HDAC1|CCDS360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 22 27 22 0 0 ./. 4 2 5 4 17 12 17 12 5 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770231044 1 92282135 GT G 420 PASS TGFBR3 CCDS30770.1 r.? - - Del intronic D 92282135 92282137 1 18 375.772 - - 1 1 1 TGFBR3|CCDS30770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TGFBR3|CCDS30770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 5 2 6 4 20 21 20 21 6 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770235756 1 105322192 T TA 660 PASS - - - - - Ins - I 105322192 105322202 1 36 583.876 - - 9 1 1 - - ./. 0 0 0 0 19 29 19 29 0 0 ./. 3 8 8 13 22 29 22 29 8 13 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770239287 1 115913058 TC T 389 PASS - - - - - Del - D 115913058 115913061 1 20 375.772 - - 2 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 4 3 4 4 16 14 16 14 4 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770254818 1 178753113 TTTAA T 269 PASS RALGPS2 CCDS1325.1 r.? - - Del intronic D 178753113 178753122 4 6 267.204 - - 2 1 1 RALGPS2|CCDS1325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RALGPS2|CCDS1325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 35 23 35 0 0 ./. 5 0 7 0 32 24 32 24 7 0 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770279702 1 247084835 ATAAG A 298 PASS AHCTF1 CCDS1629.1 r.? - - Del upstream D 247084835 247084840 4 15 322.09 - - 1 1 1 AHCTF1|CCDS1629.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AHCTF1|ENST00000366508|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 20 21 20 0 0 ./. 2 4 5 5 30 23 30 23 5 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770286960 10 14792357 TC T 600 PASS FAM107B CCDS7102.1 r.? - - Del intronic D 14792357 14792361 1 27 538.488 - - 3 1 1 FAM107B|CCDS7102.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM107B|CCDS7102.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 23 29 23 0 0 ./. 8 2 8 3 30 20 30 20 8 3 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770301690 10 56468561 TGC T 360 PASS PCDH15 CCDS44404.1 r.? - - Del intronic D 56468561 56468571 2 15 321.889 - - 4 1 - PCDH15|CCDS44404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 22 16 22 0 0 ./. 2 4 2 4 11 23 11 23 2 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770335333 11 14518399 TA T 360 PASS COPB1 CCDS7815.1 r.? - - Del intronic D 14518399 14518403 1 15 323.764 - - 3 1 1 COPB1|CCDS7815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COPB1|CCDS7815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 26 30 26 0 0 ./. 4 2 5 8 17 28 17 28 5 8 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770340064 11 27140663 CTCTT C 389 PASS BBOX1 CCDS7862.1 r.? - - Del intronic D 27140663 27140671 4 20 377.725 - - 1 1 1 BBOX1|CCDS7862.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BBOX1|CCDS7862.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 28 19 28 0 0 ./. 4 3 6 5 16 19 16 19 6 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770365789 11 105924900 AT A 540 PASS KBTBD3 CCDS8334.1 r.1155delA c.515delA p.H172fs*20 Del frameshift D 105924900 105924902 1 30 485.646 - - 1 1 1 KBTBD3|CCDS8334.1|r.1155delA|c.515delA|p.H172fs*20|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 KBTBD3|CCDS8334.1|r.1155delA|c.515delA|p.H172fs*20|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 18 24 18 24 0 0 ./. 4 5 5 6 14 24 14 24 5 6 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770404382 12 87400777 TC T 300 PASS - - - - - Del - D 87400777 87400779 1 12 269.795 - - 1 1 1 - - ./. 0 0 0 0 20 25 20 25 0 0 ./. 3 2 6 6 23 17 23 17 6 6 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770415530 12 118828920 CT C 480 PASS SUDS3 CCDS44993.1 r.500-10delu c.361-10delt p.? Del splice region D 118828920 118828925 1 16 431.673 - - 4 1 1 SUDS3|CCDS44993.1|r.500-10delu|c.361-10delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 SUDS3|CCDS44993.1|r.500-10delu|c.361-10delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 20 27 20 27 0 0 ./. 1 7 3 7 16 19 16 19 3 7 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770416506 12 121083196 TG T 360 PASS CABP1 CCDS31913.1 r.? - - Del intronic D 121083196 121083198 1 12 323.754 - - 1 1 1 CABP1|CCDS31913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CABP1|CCDS31913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 5 1 6 1 18 19 18 19 6 1 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770432854 13 49989361 T TA 300 PASS CAB39L CCDS9416.2 r.? - - Ins intronic I 49989361 49989368 1 12 266.423 - - 6 1 1 CAB39L|CCDS9416.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CAB39L|CCDS9416.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 35 25 35 25 0 0 ./. 3 2 7 5 23 21 24 21 7 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770437500 13 65890564 C CA 720 PASS - - - - - Ins - I 65890564 65890569 1 40 642.305 - - 4 1 1 - - ./. 0 0 0 0 24 29 25 29 0 0 ./. 9 3 10 5 23 16 23 17 10 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770448407 13 101311328 CAG C 600 PASS TMTC4 CCDS9497.2 r.? - - Del intronic D 101311328 101311333 2 35 540.672 - - 2 1 1 TMTC4|CCDS9497.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMTC4|CCDS9497.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 20 30 20 0 0 ./. 4 6 7 8 16 19 16 19 7 8 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770454071 14 22829145 G GA 420 PASS TRAC ENST00000446346 r.? - - Ins intronic I 22829145 22829151 1 20 374.699 - - 5 1 1 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 19 21 19 0 0 ./. 4 3 5 3 28 20 28 20 5 3 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770480706 14 95618495 GAGTT G 507 PASS DICER1 CCDS9931.1 r.? - - Del intronic D 95618495 95618503 4 36 541.305 - - 1 1 1 DICER1|CCDS9931.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DICER1|CCDS9931.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 21 18 21 0 0 ./. 5 5 5 6 19 18 19 18 5 6 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770492538 15 39965595 GC G 360 PASS FSIP1 CCDS10050.1 r.? - - Del intronic D 39965595 39965598 1 15 324.968 - - 2 1 1 FSIP1|CCDS10050.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSIP1|CCDS10050.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 2 4 3 5 26 18 26 18 3 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770493855 15 43174645 AAT A 300 PASS TTBK2 CCDS42029.1 r.? - - Del intronic D 43174645 43174664 2 12 270.205 - - 9 1 1 TTBK2|CCDS42029.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TTBK2|CCDS42029.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 31 3 31 0 0 ./. 2 3 2 4 14 23 14 23 2 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770514262 15 99329879 TTTG T 300 PASS IGF1R CCDS10378.1 r.? - - Del intronic D 99329879 99329895 3 10 269 - - 5 1 1 IGF1R|CCDS10378.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGF1R|CCDS10378.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 24 29 24 0 0 ./. 4 1 4 1 23 18 23 18 4 1 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770522037 16 13086552 CAG C 749 PASS SHISA9 CCDS45417.1 r.? - - Del intronic D 13086552 13086557 2 56 700.802 - - 2 1 1 SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 26 14 26 0 0 ./. 7 6 8 9 21 30 21 30 8 9 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770526788 16 23992119 AAT A 300 PASS PRKCB CCDS10619.1 r.? - - Del intronic D 23992119 23992136 2 12 270.234 - - 8 1 1 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 2 3 2 5 20 33 20 33 2 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770535541 16 51642963 A AT 720 PASS - - - - - Ins - I 51642963 51642969 1 48 641.337 - - 5 1 1 - - ./. 0 0 0 0 25 13 25 13 0 0 ./. 7 5 9 7 28 17 28 17 9 7 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770539859 16 62178053 ACTTTT A 387 PASS - - - - - Del - D 62178053 62178063 5 21 431.773 - - 1 1 1 - - ./. 0 0 0 0 26 26 26 26 0 0 ./. 2 6 4 6 29 27 29 27 4 6 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770547923 16 80737278 A AG 720 PASS CDYL2 CCDS32493.1 r.? - - Ins intronic I 80737278 80737281 1 40 641.337 - - 2 1 1 CDYL2|CCDS32493.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDYL2|CCDS32493.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 3 9 7 11 26 29 26 30 7 11 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770553886 17 4633773 A AT 300 PASS CXCL16 CCDS11052.1 r.? - - Ins downstream I 4633773 4633781 1 12 265.242 - - 7 1 1 CXCL16|CCDS11052.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MED11|CCDS32533.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 3 4 3 10 14 10 14 4 3 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770580721 17 74466401 GT G 300 PASS RHBDF2 CCDS32743.1 r.? - - Del downstream D 74466401 74466403 1 6 270.059 - - 1 1 1 RHBDF2|CCDS32743.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RHBDF2|CCDS32743.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 21 14 21 0 0 ./. 5 0 6 0 19 19 19 19 6 0 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770584464 18 1889600 AT A 300 PASS - - - - - Del - D 1889600 1889602 1 12 270.771 - - 1 1 1 - - ./. 0 0 0 0 26 27 26 27 0 0 ./. 3 2 6 2 22 17 22 17 6 2 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770591179 18 21941436 TAC T 360 PASS OSBPL1A CCDS11884.1 r.? - - Del intronic D 21941436 21941439 2 16 322.518 - - 1 1 1 OSBPL1A|CCDS11884.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OSBPL1A|CCDS11884.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 23 22 23 0 0 ./. 3 3 5 3 24 19 24 19 5 3 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770623261 19 28224234 TC T 540 PASS AC006504.2 CCDS34162.1 r.? - - Del intronic D 28224234 28224238 1 24 487.765 - - 3 1 1 AC006504.2|CCDS34162.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC006504.2|CCDS34162.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 7 2 7 3 20 12 20 12 7 3 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770670857 2 100473641 CTAAA C 300 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100473641 100473657 4 10 268.479 - - 3 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 23 28 23 0 0 ./. 4 1 4 3 23 21 23 21 4 3 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770673338 2 108675594 AT A 420 PASS - - - - - Del - D 108675594 108675596 1 18 375.87 - - 1 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 5 2 9 4 30 28 30 28 9 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770675673 2 116353426 GT G 480 PASS DPP10 CCDS46400.1 r.? - - Del intronic D 116353426 116353433 1 24 427.76 - - 6 1 1 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 45 35 45 35 0 0 ./. 5 3 5 4 19 18 19 18 5 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770695384 2 173908757 AG A 420 PASS RAPGEF4 CCDS42775.1 r.? - - Del intronic D 173908757 173908760 1 20 374.666 - - 2 1 1 RAPGEF4|CCDS42775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAPGEF4|CCDS42775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 4 3 6 4 17 24 17 24 6 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770703776 2 200329813 GTC G 300 PASS SATB2 CCDS2327.1 r.17_18delGA c.? p.? Del 5'UTR variant D 200329813 200329833 2 12 267.275 - - 9 1 - SATB2|CCDS2327.1|r.17_18delGA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 SATB2|CCDS2327.1|r.17_18delGA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 24 17 24 17 0 0 ./. 3 2 4 2 25 23 25 23 4 2 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770720965 20 3902121 AC A 629 PASS PANK2 CCDS13072.1 r.? - - Del intronic D 3902121 3902130 1 30 594.07 - - 8 1 1 PANK2|CCDS13072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PANK2|CCDS13072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 2 9 3 9 21 25 21 25 3 9 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770724630 20 13456778 TAAAC T 480 PASS TASP1 CCDS13116.1 r.? - - Del intronic D 13456778 13456794 4 25 433.201 - - 3 1 - TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 35 19 35 0 0 ./. 4 4 5 9 27 30 27 30 5 9 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770725212 20 14906667 GTCTCTTCACA G 580 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 14906667 14906679 10 112 1083.9 - - 1 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 29 12 29 0 0 ./. 7 13 7 13 22 35 22 35 7 13 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770727330 20 20589134 G GA 300 PASS RALGAPA2 CCDS46584.1 r.? - - Ins intronic I 20589134 20589144 1 6 268.116 - - 9 1 1 RALGAPA2|CCDS46584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RALGAPA2|CCDS46584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 34 27 35 0 0 ./. 0 5 1 5 27 41 27 41 1 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770775471 3 6977264 TA T 509 PASS GRM7 CCDS43042.1 r.? - - Del intronic D 6977264 6977266 1 30 484.212 - - 1 1 1 GRM7|CCDS43042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM7|CCDS43042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 40 24 40 0 0 ./. 5 4 9 4 19 23 19 23 9 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770780982 3 23109008 CAG C 600 PASS - - - - - Del - D 23109008 23109012 2 36 538.013 - - 1 1 1 - - ./. 0 0 0 0 28 23 28 23 0 0 ./. 5 5 7 6 22 22 22 22 7 6 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770796712 3 69854817 TC T 300 PASS MITF CCDS43106.1 r.? - - Del intronic D 69854817 69854819 1 10 269.007 - - 1 1 1 MITF|CCDS43106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MITF|CCDS43106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 28 12 28 0 0 ./. 4 1 7 1 26 18 26 18 7 1 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770802418 3 84574232 AG A 890 PASS - - - - - Del - D 84574232 84574235 1 77 859.617 - - 2 1 1 - - ./. 0 0 0 0 30 25 30 25 0 0 ./. 10 6 12 7 28 23 28 23 12 7 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770806660 3 102199636 TTTAAA T 358 PASS ZPLD1 CCDS2947.1 r.? - - Del downstream D 102199636 102199642 5 20 376.609 - - 1 1 1 ZPLD1|CCDS2947.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZPLD1|CCDS2947.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 27 29 27 29 0 0 ./. 3 4 4 5 17 20 17 20 4 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770813832 3 122448013 CTA C 600 PASS PARP14 CCDS46894.1 r.6242_6243delUA c.? p.? Del 3'UTR variant D 122448013 122448017 2 32 538.013 - - 1 1 1 PARP14|CCDS46894.1|r.6242_6243delUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PARP14|CCDS46894.1|r.6242_6243delUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 24 23 24 23 0 0 ./. 3 7 3 8 22 26 22 26 3 8 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770817912 3 135228485 A AC 420 PASS - - - - - Ins - I 135228485 135228495 1 18 372.395 - - 9 1 1 - - ./. 0 0 0 0 23 23 25 23 0 0 ./. 2 5 3 6 17 31 18 31 3 6 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770821746 3 146501647 GT G 300 PASS - - - - - Del - D 146501647 146501657 1 12 269.007 - - 9 1 1 - - ./. 0 0 0 0 26 30 26 30 0 0 ./. 3 2 7 2 23 25 23 25 7 2 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770825577 3 158325034 A AC 300 PASS MLF1 CCDS46945.1 r.? - - Ins downstream I 158325034 158325035 1 10 258.772 - - 0 1 - MLF1|CCDS46945.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MLF1|CCDS46945.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 19 23 19 23 0 0 ./. 1 4 1 4 26 8 26 9 1 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770839661 4 888044 G GCGCAGGGGTGACACCGGGGCCTGCGGGGAA 348 PASS GAK CCDS3340.1 r.? - - Ins intronic I 888044 888057 30 48 418.944 - - 0 1 1 GAK|CCDS3340.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GAK|CCDS3340.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 18 16 0 0 ./. 7 5 0 0 24 26 24 29 7 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770857126 4 49193631 AAGTT A 455 PASS - - - - - Del - D 49193631 49193636 4 16 806.046 - - 1 1 1 - - ./. 0 0 0 0 36 25 36 25 0 0 ./. 15 0 18 0 49 41 49 41 18 0 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770880590 4 120630811 CTTAGA C 472 PASS - - - - - Del - D 120630811 120630823 5 49 644.716 - - 2 1 1 - - ./. 0 0 0 0 25 29 25 29 0 0 ./. 6 6 6 6 27 26 28 27 7 7 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770891206 4 152765726 C CA 360 PASS - - - - - Ins - I 152765726 152765733 1 16 319.047 - - 6 1 1 - - ./. 0 0 0 0 31 22 31 22 0 0 ./. 3 3 4 6 29 23 29 23 4 6 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770895089 4 163879356 G GA 300 PASS - - - - - Ins - I 163879356 163879366 1 10 264.668 - - 9 1 1 - - ./. 0 0 0 0 34 26 34 27 0 0 ./. 1 4 2 4 34 24 34 24 2 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770898982 4 176020113 C CA 540 PASS - - - - - Ins - I 176020113 176020120 1 30 478.57 - - 6 1 1 - - ./. 0 0 0 0 26 25 26 25 0 0 ./. 4 5 4 7 21 14 21 14 4 7 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770913607 5 20613046 TC T 360 PASS - - - - - Del - D 20613046 20613049 1 12 322.495 - - 2 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 5 1 8 4 21 24 21 24 8 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770914582 5 23127534 TC T 540 PASS - - - - - Del - D 23127534 23127537 1 28 483.441 - - 2 1 1 - - ./. 0 0 0 0 38 23 38 23 0 0 ./. 3 6 6 11 19 28 19 28 6 11 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770916524 5 28651090 ATG A 540 PASS - - - - - Del - D 28651090 28651093 2 30 484.645 - - 1 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 5 4 7 6 18 21 18 21 7 6 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770923548 5 51495441 G GA 360 PASS - - - - - Ins - I 51495441 51495450 1 15 318.28 - - 8 1 1 - - ./. 0 0 0 0 27 26 27 27 0 0 ./. 4 2 5 6 26 25 26 25 5 6 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770949145 5 130520236 C CT 300 PASS LYRM7 CCDS4148.1 r.? - - Ins intronic I 130520236 130520246 1 10 266.237 - - 9 1 1 LYRM7|CCDS4148.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LYRM7|CCDS4148.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 31 25 33 25 0 0 ./. 4 1 4 1 25 21 25 21 4 1 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770958430 5 157677238 AT A 360 PASS - - - - - Del - D 157677238 157677245 1 15 323.097 - - 6 1 1 - - ./. 0 0 0 0 21 30 21 30 0 0 ./. 2 4 3 4 15 19 15 19 3 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2770983271 6 38451620 TCC T 420 PASS BTBD9 CCDS47418.1 r.? - - Del intronic D 38451620 38451624 2 14 377.19 - - 3 1 1 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 22 21 22 0 0 ./. 6 1 6 1 20 12 20 12 6 1 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771005264 6 113734540 TAATA T 418 PASS - - - - - Del - D 113734540 113734549 4 16 431.074 - - 2 1 1 - - ./. 0 0 0 0 27 26 27 26 0 0 ./. 1 7 1 8 17 21 17 21 1 8 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771028126 7 18661061 CAAATATGGATTTTGAAAAATGGTAATCTT C 377 PASS HDAC9 CCDS47554.1 r.? - - Del intronic D 18661061 18661093 29 56 700.227 - - 1 1 1 HDAC9|CCDS47554.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HDAC9|CCDS47554.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 27 21 27 0 0 ./. 6 7 4 4 24 20 26 23 6 7 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771030692 7 26117747 A AT 660 PASS - - - - - Ins - I 26117747 26117751 1 40 585.877 - - 3 1 1 - - ./. 0 0 0 0 14 20 15 20 0 0 ./. 4 7 6 9 23 35 24 36 6 9 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771049243 7 75081739 AC A 346 PASS POM121C CCDS47617.1 r.? - - Del intronic D 75081739 75081741 1 7 318.365 - - 1 1 1 POM121C|CCDS47617.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000228720|ENST00000425284|r.1000delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 23 31 23 31 0 0 ./. 6 0 7 3 28 23 28 23 7 3 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771063782 7 118610474 CA C 420 PASS - - - - - Del - D 118610474 118610477 1 20 377.046 - - 2 1 1 - - ./. 0 0 0 0 29 25 29 25 0 0 ./. 4 3 5 6 18 19 18 19 5 6 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771086330 8 24549811 TA T 420 PASS - - - - - Del - D 24549811 24549821 1 18 377.687 - - 9 1 1 - - ./. 0 0 0 0 32 25 32 25 0 0 ./. 5 2 6 3 15 12 15 12 6 3 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771090563 8 37783902 CT C 360 PASS - - - - - Del - D 37783902 37783904 1 15 322.527 - - 1 1 1 - - ./. 0 0 0 0 17 28 17 28 0 0 ./. 4 2 6 7 27 17 27 17 6 7 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771096034 8 57079524 GCA G 900 PASS PLAG1 CCDS6165.1 r.1280_1281delUG c.779_780delTG p.V260fs*16 Del frameshift D 57079524 57079529 2 52 809.329 - - 2 1 1 PLAG1|CCDS6165.1|r.1280_1281delUG|c.779_780delTG|p.V260fs*16|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PLAG1|CCDS6165.1|r.1280_1281delUG|c.779_780delTG|p.V260fs*16|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 18 19 18 19 0 0 ./. 12 3 13 3 28 17 28 17 13 3 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771108971 8 98761759 G GA 629 PASS - - - - - Ins - I 98761759 98761761 1 42 586.885 - - 1 1 1 - - ./. 0 0 0 0 15 18 15 19 0 0 ./. 5 6 6 8 15 32 15 33 6 8 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771120588 8 134234475 C CA 780 PASS WISP1 CCDS6371.1 r.? - - Ins intronic I 134234475 134234477 1 36 693.592 - - 1 1 1 WISP1|CCDS6371.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WISP1|CCDS6371.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 23 17 23 0 0 ./. 2 11 3 11 10 31 10 32 3 11 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771127666 9 10051911 CAT C 270 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 10051911 10051914 2 12 270.019 - - 1 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 27 25 27 0 0 ./. 2 3 4 4 13 21 13 21 4 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771149945 9 94668803 G GA 360 PASS ROR2 CCDS6691.1 r.? - - Ins intronic I 94668803 94668806 1 16 319.808 - - 2 1 1 ROR2|CCDS6691.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROR2|CCDS6691.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 21 21 22 0 0 ./. 3 3 3 5 9 23 9 23 3 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771152167 9 101271614 G GA 272 PASS GABBR2 CCDS6736.1 r.? - - Ins intronic I 101271614 101271620 1 24 426.612 - - 5 1 1 GABBR2|CCDS6736.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GABBR2|CCDS6736.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 35 19 35 20 0 0 ./. 5 3 7 5 26 22 27 22 7 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771152888 9 103939428 G GA 540 PASS ENSG00000148123 CCDS6751.1 r.? - - Ins intronic I 103939428 103939434 1 28 480.616 - - 5 1 1 ENSG00000148123|CCDS6751.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENSG00000148123|CCDS6751.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 31 20 31 21 0 0 ./. 3 6 4 7 20 32 20 32 4 7 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771175989 X 36956071 AC A 540 PASS - - - - - Del - D 36956071 36956073 1 28 486.237 - - 1 1 1 - - ./. 0 0 0 0 22 28 22 28 0 0 ./. 6 3 6 4 23 17 23 17 6 4 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771196324 X 120938095 GATTACT G 278 PASS - - - - - Del - D 120938095 120938102 6 35 539.059 - - 1 1 1 - - ./. 0 0 0 0 28 28 28 28 0 0 ./. 4 6 5 8 27 28 27 28 5 8 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771197770 X 125928082 A AT 540 PASS - - - - - Ins - I 125928082 125928089 1 30 480.819 - - 6 1 1 - - ./. 0 0 0 0 38 34 39 35 0 0 ./. 5 4 7 5 21 21 21 21 7 5 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771200501 X 137202500 TTTCA T 480 PASS - - - - - Del - D 137202500 137202507 4 24 432.211 - - 1 1 1 - - ./. 0 0 0 0 27 36 27 36 0 0 ./. 5 3 9 3 35 20 35 20 9 3 1 1 1 1 1 1 1 1 2817440 PD14445a PD14445b 2771204612 X 153154187 TTCTG T 540 PASS L1CAM CCDS14733.1 r.? - - Del upstream D 153154187 153154195 4 24 486.237 - - 1 1 1 L1CAM|CCDS14733.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000196987|ENST00000452593|r.1135_1138delUCUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 19 18 19 18 0 0 ./. 2 7 5 7 22 28 22 28 5 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774421133 1 1998100 TC T 300 PASS PRKCZ CCDS37.1 r.? - - Del intronic D 1998100 1998104 1 10 266.51 - - 3 1 1 PRKCZ|CCDS37.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCZ|CCDS37.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 25 23 25 0 0 ./. 1 4 2 4 13 20 13 20 2 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774425707 1 15529686 CCTCGCATCCTTCAAATCTCTGCTCAG C 290 PASS TMEM51 CCDS154.1 r.? - - Del intronic D 15529686 15529713 26 35 536.633 - - 1 1 1 TMEM51|CCDS154.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TMEM51|CCDS154.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 33 22 33 22 0 0 ./. 4 6 3 5 35 32 36 33 4 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774426096 1 16095352 C CA 1260 PASS FBLIM1 CCDS163.1 r.? - - Ins intronic I 16095352 16095358 1 132 1113.68 - - 5 1 1 FBLIM1|CCDS163.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBLIM1|CCDS163.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 17 26 17 0 0 ./. 10 11 14 16 40 35 40 35 14 16 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774426236 1 16301998 TG T 660 PASS ZBTB17 CCDS165.1 r.? - - Del intronic D 16301998 16302000 1 42 587.286 - - 1 1 1 ZBTB17|CCDS165.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZBTB17|CCDS165.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 27 15 27 0 0 ./. 6 5 8 8 25 26 25 26 8 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774426239 1 16306759 AG A 360 PASS ZBTB17 CCDS165.1 r.? - - Del upstream D 16306759 16306761 1 16 321.98 - - 1 1 1 ZBTB17|CCDS165.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZBTB17|CCDS165.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 22 25 22 25 0 0 ./. 3 3 4 4 15 24 15 24 4 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774444180 1 69870797 GC G 360 PASS - - - - - Del - D 69870797 69870800 1 15 321.98 - - 2 1 1 - - ./. 0 0 0 0 28 35 28 35 0 0 ./. 4 2 6 2 22 17 22 17 6 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774448575 1 84358402 T TATATGTGAACACATATATATGAGCAC 327 PASS TTLL7 CCDS690.2 r.? - - Ins intronic I 84358402 84358427 26 20 266.068 - - 0 1 - TTLL7|CCDS690.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTLL7|CCDS690.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 41 15 41 16 0 0 ./. 3 4 0 0 13 25 13 25 3 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774456561 1 111814679 TTGGTTTTATATTTC T 278 PASS - - - - - Del - D 111814679 111814698 14 35 536.633 - - 1 1 1 - - ./. 0 0 0 0 32 33 32 33 0 0 ./. 6 4 4 4 25 18 26 18 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774471947 1 173554752 T TA 360 PASS SLC9A11 CCDS1308.1 r.? - - Ins intronic I 173554752 173554760 1 12 318.368 - - 7 1 1 SLC9A11|CCDS1308.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC9A11|CCDS1308.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 29 33 29 33 0 0 ./. 1 5 4 5 25 17 25 17 4 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774472604 1 175578536 AT A 1200 PASS TNR CCDS1318.1 r.? - - Del intronic D 175578536 175578538 1 121 1073.27 - - 1 1 1 TNR|CCDS1318.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TNR|CCDS1318.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 22 27 22 0 0 ./. 10 10 12 13 22 23 22 23 12 13 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774473706 1 179136498 AGC A 360 PASS ABL2 CCDS44283.1 r.? - - Del intronic D 179136498 179136502 2 15 321.98 - - 1 1 1 ABL2|CCDS44283.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABL2|CCDS44283.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 27 23 27 0 0 ./. 2 4 2 5 17 19 17 19 2 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774474547 1 180918120 AGGCTGGGCTGCCCAAAGCTCCTACGG A 493 PASS KIAA1614 CCDS41442.1 r.7025_7050del26 c.? p.? Del 3'UTR variant D 180918120 180918154 26 90 910.471 - - 1 1 1 KIAA1614|CCDS41442.1|r.7025_7050del26|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 KIAA1614|CCDS41442.1|r.7025_7050del26|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 21 17 21 17 0 0 ./. 9 8 6 6 22 20 25 22 9 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774475566 1 183946449 C CA 300 PASS GLT25D2 CCDS1360.1 r.? - - Ins intronic I 183946449 183946457 1 12 265.306 - - 7 1 1 GLT25D2|CCDS1360.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GLT25D2|CCDS1360.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 28 26 28 0 0 ./. 2 3 4 3 28 22 28 23 4 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774475973 1 185451032 AT A 392 PASS - - - - - Del - D 185451032 185451037 1 20 375.643 - - 4 1 1 - - ./. 0 0 0 0 25 19 25 19 0 0 ./. 4 3 5 7 21 19 21 19 5 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774476471 1 187261496 CA C 300 PASS - - - - - Del - D 187261496 187261498 1 6 267.113 - - 1 1 1 - - ./. 0 0 0 0 30 16 30 16 0 0 ./. 0 5 1 6 17 15 17 15 1 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774478622 1 193860839 TA T 780 PASS - - - - - Del - D 193860839 193860848 1 56 697.623 - - 8 1 1 - - ./. 0 0 0 0 24 25 24 25 0 0 ./. 7 6 10 12 25 19 25 19 10 12 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774482662 1 204728548 C CA 420 PASS - - - - - Ins - I 204728548 204728558 1 18 367.817 - - 9 1 1 - - ./. 0 0 0 0 25 34 26 34 0 0 ./. 5 2 7 3 39 29 41 29 7 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774483275 1 206681703 T TG 600 PASS RASSF5 CCDS30998.1 r.? - - Ins intronic I 206681703 206681710 1 35 519.174 - - 6 1 1 RASSF5|CCDS30998.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RASSF5|CCDS30998.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 12 21 13 0 0 ./. 6 4 6 4 36 37 38 37 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774494944 1 239469802 TGATA T 300 PASS - - - - - Del - D 239469802 239469808 4 12 268.317 - - 1 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 3 2 4 2 18 20 18 20 4 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774495918 1 241928323 C CA 300 PASS WDR64 ENST00000366552 r.? - - Ins intronic I 241928323 241928332 1 10 265.306 - - 8 1 1 WDR64|ENST00000366552|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR64|ENST00000366552|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 37 22 38 22 0 0 ./. 4 1 5 3 20 13 21 13 5 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774501430 10 5878152 CCCCTG C 420 PASS GDI2 ENST00000380127 r.? - - Del intronic D 5878152 5878158 5 14 375.087 - - 1 1 1 GDI2|ENST00000380127|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GDI2|ENST00000380127|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 18 22 18 0 0 ./. 1 6 1 6 22 38 22 38 1 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774502554 10 8111499 A AGGAG 540 PASS GATA3 CCDS31143.1 r.1556_1557insggag c.988_989insGGAG p.N332fs*22 Ins frameshift I 8111499 8111505 4 28 462.903 - - 1 1 1 GATA3|CCDS31143.1|r.1556_1557insggag|c.988_989insGGAG|p.N332fs*22|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 GATA3|CCDS31143.1|r.1556_1557insggag|c.988_989insGGAG|p.N332fs*22|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 21 32 21 33 0 0 ./. 3 6 3 7 24 38 24 39 3 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774504985 10 13321484 AT A 1260 PASS PHYH CCDS41489.1 r.? - - Del intronic D 13321484 13321486 1 132 1127.67 - - 1 1 1 PHYH|CCDS41489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHYH|CCDS41489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 21 31 21 0 0 ./. 10 11 12 15 33 25 33 25 12 15 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774506403 10 16437513 AT A 300 PASS - - - - - Del - D 16437513 16437523 1 10 269.209 - - 9 1 1 - - ./. 0 0 0 0 38 30 38 30 0 0 ./. 4 1 5 1 21 16 21 16 5 1 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774507958 10 20046153 CA C 480 PASS - - - - - Del - D 20046153 20046157 1 24 430.735 - - 3 1 1 - - ./. 0 0 0 0 24 23 24 23 0 0 ./. 3 5 6 10 19 28 19 28 6 10 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774511754 10 28974943 C CA 360 PASS BAMBI CCDS7162.1 r.? - - Ins downstream I 28974943 28974947 1 15 319.439 - - 3 1 1 BAMBI|CCDS7162.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 BAMBI|CCDS7162.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 22 19 22 19 0 0 ./. 4 2 5 4 21 28 21 29 5 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774516922 10 42523935 TAAA T 596 PASS - - - - - Del - D 42523935 42523941 3 48 642.49 - - 5 1 1 - - ./. 0 0 0 0 32 28 32 28 0 0 ./. 5 7 8 7 30 16 30 16 8 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774525206 10 69314964 CT C 370 PASS CTNNA3 CCDS7269.1 r.? - - Del intronic D 69314964 69314969 1 18 376.893 - - 4 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 34 26 34 0 0 ./. 5 2 6 3 18 18 18 18 6 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774527823 10 77187793 TAAG T 449 PASS C10orf11 ENST00000354343 r.? - - Del upstream D 77187793 77187797 3 21 430.735 - - 1 1 1 C10orf11|ENST00000354343|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 C10orf11|ENST00000354343|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 25 23 25 23 0 0 ./. 6 2 6 2 22 8 22 8 6 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774527833 10 77246403 T TG 300 PASS C10orf11 ENST00000354343 r.? - - Ins intronic I 77246403 77246412 1 10 266.199 - - 8 1 1 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 18 27 18 0 0 ./. 4 1 8 5 22 10 22 10 8 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774542483 10 127963406 AT A 360 PASS ADAM12 CCDS7653.1 r.? - - Del intronic D 127963406 127963410 1 12 323.051 - - 3 1 1 ADAM12|CCDS7653.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM12|CCDS7653.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 25 27 25 0 0 ./. 5 1 5 1 16 13 16 13 5 1 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774557541 11 35597267 CA C 480 PASS - - - - - Del - D 35597267 35597273 1 24 429.062 - - 5 1 1 - - ./. 0 0 0 0 23 36 23 36 0 0 ./. 3 5 6 8 22 41 22 41 6 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774563268 11 51456786 GTT G 360 PASS - - - - - Del - D 51456786 51456790 2 15 323.603 - - 3 1 1 - - ./. 0 0 0 0 24 21 24 21 0 0 ./. 4 2 4 2 16 20 16 20 4 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774564285 11 57707462 AC A 600 PASS - - - - - Del - D 57707462 57707464 1 20 539.338 - - 1 1 1 - - ./. 0 0 0 0 22 27 22 27 0 0 ./. 9 1 10 4 27 24 27 24 10 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774574496 11 88915482 ACT A 420 PASS TYR CCDS8284.1 r.? - - Del intronic D 88915482 88915487 2 18 377.536 - - 2 1 1 TYR|CCDS8284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TYR|CCDS8284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 33 18 33 18 0 0 ./. 2 5 4 7 41 38 41 38 4 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774580917 11 110256367 CT C 637 PASS - - - - - Del - D 110256367 110256375 1 54 701.139 - - 7 1 1 - - ./. 0 0 0 0 37 34 37 34 0 0 ./. 5 8 7 10 17 17 17 17 7 10 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774583813 11 119825908 AG A 480 PASS - - - - - Del - D 119825908 119825911 1 21 431.47 - - 2 1 1 - - ./. 0 0 0 0 26 22 26 22 0 0 ./. 2 6 4 7 13 15 13 15 4 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774584514 11 122705546 A AT 420 PASS CRTAM CCDS8437.1 r.? - - Ins upstream I 122705546 122705555 1 20 372.72 - - 8 1 1 CRTAM|CCDS8437.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CRTAM|CCDS8437.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 28 23 28 23 0 0 ./. 4 3 6 7 17 19 18 19 6 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774586178 11 127900204 TG T 1080 PASS - - - - - Del - D 127900204 127900207 1 99 970.206 - - 2 1 1 - - ./. 0 0 0 0 22 44 22 44 0 0 ./. 10 8 12 9 13 11 13 11 12 9 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774594144 12 16636557 AG A 360 PASS - - - - - Del - D 16636557 16636559 1 15 323.686 - - 1 1 1 - - ./. 0 0 0 0 25 34 25 34 0 0 ./. 2 4 6 4 15 16 15 16 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774594693 12 18779678 TC T 300 PASS PIK3C2G CCDS44839.1 r.? - - Del intronic D 18779678 18779681 1 12 269.738 - - 2 1 1 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 53 33 53 33 0 0 ./. 3 2 3 2 20 12 20 12 3 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774598482 12 29166508 T TA 360 PASS - - - - - Ins - I 29166508 29166510 1 16 320.073 - - 1 1 1 - - ./. 0 0 0 0 16 27 16 27 0 0 ./. 3 3 4 4 14 14 14 14 4 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774601202 12 39397289 TAA T 660 PASS - - - - - Del - D 39397289 39397294 2 40 593.424 - - 4 1 1 - - ./. 0 0 0 0 26 34 26 34 0 0 ./. 4 7 6 9 15 19 15 19 6 9 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774606260 12 55337882 G GT 264 PASS - - - - - Ins - I 55337882 55337884 1 12 266.728 - - 1 1 1 - - ./. 0 0 0 0 22 29 22 29 0 0 ./. 2 3 5 5 26 27 26 28 5 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774606903 12 57236343 AT A 300 PASS - - - - - Del - D 57236343 57236353 1 12 269.738 - - 9 1 1 - - ./. 0 0 0 0 30 43 30 43 0 0 ./. 2 3 5 3 19 20 19 20 5 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774612814 12 76327620 TA T 300 PASS - - - - - Del - D 76327620 76327629 1 10 269.738 - - 8 1 1 - - ./. 0 0 0 0 25 20 25 20 0 0 ./. 4 1 4 2 15 12 15 12 4 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774620721 12 102125748 G GT 300 PASS CHPT1 CCDS9086.1 r.? - - Ins downstream I 102125748 102125752 1 12 266.728 - - 3 1 1 CHPT1|CCDS9086.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SYCP3|CCDS9087.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 27 25 27 0 0 ./. 3 2 7 3 27 16 27 16 7 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774627783 12 122942223 TGAAAAGGAAGTTTGGGCACAGACACGTGTGGACACACAGGACA T 261 PASS - - - - - Del - D 122942223 122942269 43 24 485.529 - - 1 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 2 7 2 3 15 20 15 24 2 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774641447 13 43434722 CCTGTT C 300 PASS - - - - - Del - D 43434722 43434730 5 10 270.286 - - 1 1 1 - - ./. 0 0 0 0 18 22 18 22 0 0 ./. 4 1 4 1 19 11 19 11 4 1 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774642710 13 47189529 CTA C 540 PASS LRCH1 CCDS31972.1 r.? - - Del intronic D 47189529 47189533 2 28 485.913 - - 1 1 1 LRCH1|CCDS31972.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRCH1|CCDS31972.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 6 3 6 3 17 18 17 18 6 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774643923 13 50526196 G GT 480 PASS - - - - - Ins - I 50526196 50526200 1 25 426.437 - - 3 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 4 4 6 5 15 29 15 29 6 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774644730 13 53178869 A AT 600 PASS - - - - - Ins - I 53178869 53178878 1 36 534.551 - - 8 1 1 - - ./. 0 0 0 0 30 31 30 31 0 0 ./. 5 5 6 10 19 26 19 26 6 10 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774646476 13 59115623 TC T 360 PASS - - - - - Del - D 59115623 59115625 1 7 324.343 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 0 7 0 21 11 21 11 7 0 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774646688 13 59675895 T TA 300 PASS - - - - - Ins - I 59675895 59675896 1 12 267.276 - - 0 1 1 - - ./. 0 0 0 0 22 30 22 31 0 0 ./. 3 2 5 2 16 14 16 14 5 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774665460 13 115047374 T TGGAGGGAGG 276 PASS UPF3A CCDS9543.1 r.? - - Ins intronic I 115047374 115047404 9 11 444.844 - - 3 1 1 UPF3A|CCDS9543.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UPF3A|CCDS9543.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 10 0 12 0 51 19 51 19 12 0 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774669643 14 29814925 AC A 480 PASS - - - - - Del - D 29814925 29814933 1 21 433.059 - - 7 1 1 - - ./. 0 0 0 0 25 27 25 27 0 0 ./. 6 2 6 3 24 24 24 24 6 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774673768 14 39336909 GC G 1560 PASS - - - - - Del - D 39336909 39336913 1 192 1404.43 - - 3 1 1 - - ./. 0 0 0 0 31 27 31 27 0 0 ./. 11 15 13 19 24 35 24 35 13 19 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774678661 14 56048540 CTT C 600 PASS KTN1 CCDS41957.1 r.? - - Del intronic D 56048540 56048543 2 35 541.324 - - 2 1 1 KTN1|CCDS41957.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KTN1|CCDS41957.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 36 25 36 0 0 ./. 6 4 6 4 21 16 21 16 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774687776 14 87805945 TA T 480 PASS - - - - - Del - D 87805945 87805950 1 25 433.059 - - 4 1 1 - - ./. 0 0 0 0 22 23 22 23 0 0 ./. 4 4 4 4 11 14 11 14 4 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774688839 14 91389834 TA T 480 PASS RPS6KA5 CCDS9893.1 r.? - - Del intronic D 91389834 91389836 1 24 432.457 - - 1 1 1 RPS6KA5|CCDS9893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPS6KA5|CCDS9893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 26 17 26 0 0 ./. 5 3 6 4 10 10 10 10 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774690746 14 98154092 TAGAA T 749 PASS ENSG00000197176 ENST00000355909 r.? - - Del upstream D 98154092 98154100 4 44 700.109 - - 1 1 1 ENSG00000197176|ENST00000355909|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000197176|ENST00000355909|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 26 33 26 33 0 0 ./. 10 3 11 5 19 13 19 13 11 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774692649 14 104738345 GT G 360 PASS - - - - - Del - D 104738345 104738351 1 16 324.794 - - 5 1 1 - - ./. 0 0 0 0 32 36 32 36 0 0 ./. 3 3 6 3 17 15 17 15 6 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774703346 15 49513902 G GTTTGCTGTACA 348 PASS GALK2 CCDS32236.1 r.? - - Ins intronic I 49513902 49513915 11 24 568.181 - - 1 1 1 GALK2|CCDS32236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GALK2|CCDS32236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 61 39 62 40 0 0 ./. 11 1 8 0 26 28 29 29 11 1 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774703515 15 50234058 T TA 300 PASS ATP8B4 CCDS32238.1 r.? - - Ins intronic I 50234058 50234066 1 12 267.848 - - 7 1 1 ATP8B4|CCDS32238.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP8B4|CCDS32238.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 24 23 24 0 0 ./. 2 3 4 5 15 23 15 23 4 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774714295 15 83940095 GT G 360 PASS BNC1 CCDS10324.1 r.? - - Del intronic D 83940095 83940099 1 16 325.03 - - 3 1 1 BNC1|CCDS10324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BNC1|CCDS10324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 40 26 40 26 0 0 ./. 3 3 4 3 23 11 23 11 4 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774720618 16 1001968 TG T 269 PASS LMF1 CCDS45373.1 r.? - - Del intronic D 1001968 1001971 1 12 269.733 - - 2 1 1 LMF1|CCDS45373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMF1|CCDS45373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 2 3 2 28 23 28 23 3 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774726216 16 13239401 A AC 420 PASS SHISA9 CCDS45417.1 r.? - - Ins intronic I 13239401 13239402 1 20 374.255 - - 0 1 1 SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 29 19 29 0 0 ./. 3 4 3 5 24 36 24 36 3 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774726510 16 14098424 GC G 900 PASS - - - - - Del - D 14098424 14098429 1 72 811.005 - - 4 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 8 10 11 25 22 25 22 10 11 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774726764 16 14687114 AAAG A 300 PASS PARN CCDS45419.1 r.? - - Del intronic D 14687114 14687120 3 10 269.733 - - 1 1 1 PARN|CCDS45419.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARN|CCDS45419.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 27 18 27 0 0 ./. 4 1 5 5 16 20 16 20 5 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774727526 16 16694876 CT C 754 PASS - - - - - Del - D 16694876 16694881 1 63 754.53 - - 4 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 6 8 8 9 21 26 21 26 8 9 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774737719 16 51396983 TA T 420 PASS - - - - - Del - D 51396983 51396988 1 20 378.469 - - 4 1 1 - - ./. 0 0 0 0 38 17 38 17 0 0 ./. 4 3 5 5 30 16 30 16 5 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774739280 16 56352457 TGGA T 538 PASS GNAO1 CCDS10756.1 r.? - - Del intronic D 56352457 56352463 3 35 540.67 - - 1 1 1 GNAO1|CCDS10756.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GNAO1|CCDS10756.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 6 4 8 4 24 28 24 28 8 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774756779 17 12215239 A AT 360 PASS - - - - - Ins - I 12215239 12215249 1 16 320.628 - - 9 1 1 - - ./. 0 0 0 0 27 43 28 44 0 0 ./. 3 3 3 3 15 18 15 18 3 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774770479 17 53288454 GC G 300 PASS - - - - - Del - D 53288454 53288464 1 12 268.394 - - 9 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 3 2 5 3 36 38 36 38 5 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774771096 17 54859149 TAATGTGTCTCAGGTTTTCCTAATA T 290 PASS - - - - - Del - D 54859149 54859175 24 35 540.4 - - 1 1 1 - - ./. 0 0 0 0 24 23 24 23 0 0 ./. 6 4 6 4 39 40 39 40 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774771628 17 55652507 CT C 300 PASS MSI2 CCDS11597.1 r.? - - Del intronic D 55652507 55652509 1 6 265.383 - - 1 1 1 MSI2|CCDS11597.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSI2|CCDS11597.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 0 5 0 8 22 51 22 51 0 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774772524 17 57170792 TC T 900 PASS TRIM37 CCDS32694.1 r.? - - Del intronic D 57170792 57170794 1 66 810.6 - - 1 1 1 TRIM37|CCDS32694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIM37|CCDS32694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 10 5 16 13 59 46 59 46 16 13 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774773358 17 58205860 CT C 360 PASS - - - - - Del - D 58205860 58205862 1 12 318.219 - - 1 1 1 - - ./. 0 0 0 0 26 16 26 16 0 0 ./. 5 1 6 3 55 42 55 42 6 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774778746 17 66427886 C CGGGGACATATGAACACCCGTGGGCAGGCTGAGGGGAGGCCCATGAGAGCCATAACTGCT 290 PASS WIPI1 CCDS11677.1 r.? - - Ins intronic I 66427886 66427909 59 35 162.306 - - 0 1 1 WIPI1|CCDS11677.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WIPI1|CCDS11677.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 20 17 0 0 ./. 6 4 0 0 86 65 98 73 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774779646 17 68218172 AC A 540 PASS - - - - - Del - D 68218172 68218174 1 28 486.36 - - 1 1 1 - - ./. 0 0 0 0 37 26 37 26 0 0 ./. 6 3 6 4 24 27 24 27 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774782969 17 74775801 AGGTGATTCACCTGCCTCGGCCTCCCAAAGTGCT A 261 PASS MFSD11 CCDS11750.1 r.? - - Del downstream D 74775801 74775837 33 24 486.36 - - 1 1 1 MFSD11|CCDS11750.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 MFSD11|CCDS11750.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 17 10 17 10 0 0 ./. 7 2 3 0 31 14 35 16 7 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774787993 18 5918876 CAG C 600 PASS - - - - - Del - D 5918876 5918881 2 35 541.932 - - 2 1 1 - - ./. 0 0 0 0 25 21 25 21 0 0 ./. 4 6 4 8 12 14 12 14 4 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774790805 18 15096174 G GT 277 PASS - - - - - Ins - I 15096174 15096184 1 18 375.138 - - 9 1 1 - - ./. 0 0 0 0 18 38 19 38 0 0 ./. 5 2 7 4 21 9 21 9 7 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774818484 19 22406639 CT C 360 PASS - - - - - Del - D 22406639 22406649 1 12 324.965 - - 9 1 1 - - ./. 0 0 0 0 30 27 30 27 0 0 ./. 5 1 5 2 11 5 11 5 5 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774819064 19 23795224 AT A 360 PASS - - - - - Del - D 23795224 23795231 1 12 324.965 - - 6 1 1 - - ./. 0 0 0 0 24 37 24 37 0 0 ./. 1 5 1 5 15 18 15 18 1 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774824937 19 41533496 TCC T 480 PASS CYP2A7P1 ENST00000301171 r.130_131delGG c.130_131delGG p.G44fs*12 Del frameshift D 41533496 41533499 2 24 433.287 - - 2 1 1 CYP2A7P1|ENST00000301171|r.130_131delGG|c.130_131delGG|p.G44fs*12|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CYP2A7P1|ENST00000301171|r.130_131delGG|c.130_131delGG|p.G44fs*12|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 18 20 18 20 0 0 ./. 5 3 8 3 18 17 18 17 8 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774825319 19 42523499 CA C 420 PASS GRIK5 CCDS12595.1 r.? - - Del intronic D 42523499 42523501 1 18 375.514 - - 1 1 1 GRIK5|CCDS12595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIK5|CCDS12595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 23 19 23 0 0 ./. 5 2 6 3 14 23 14 23 6 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774837988 2 16832221 T TA 360 PASS FAM49A CCDS1688.1 r.? - - Ins intronic I 16832221 16832229 1 15 318.606 - - 7 1 1 FAM49A|CCDS1688.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FAM49A|CCDS1688.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 24 27 24 0 0 ./. 4 2 4 2 18 12 18 12 4 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774839255 2 22096646 TCTA T 449 PASS - - - - - Del - D 22096646 22096652 3 21 429.625 - - 1 1 1 - - ./. 0 0 0 0 29 33 29 33 0 0 ./. 2 6 2 6 13 19 13 19 2 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774841898 2 29687137 T TTAGAA 269 PASS ALK CCDS33172.1 r.? - - Ins intronic I 29687137 29687143 5 10 253.464 - - 1 1 1 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 31 28 31 30 0 0 ./. 4 1 4 1 11 9 11 10 4 1 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774843995 2 35734619 C CG 360 PASS - - - - - Ins - I 35734619 35734622 1 15 318.004 - - 2 1 1 - - ./. 0 0 0 0 25 32 25 33 0 0 ./. 4 2 5 2 25 14 25 14 5 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774844935 2 38450094 ACACT A 389 PASS - - - - - Del - D 38450094 38450107 4 20 375.922 - - 3 1 1 - - ./. 0 0 0 0 24 17 24 17 0 0 ./. 4 3 4 3 14 18 14 18 4 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774851303 2 59741264 G GA 300 PASS - - - - - Ins - I 59741264 59741271 1 12 264.903 - - 6 1 1 - - ./. 0 0 0 0 30 32 30 33 0 0 ./. 2 3 3 3 18 17 19 17 3 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774857245 2 79065035 C CT 300 PASS - - - - - Ins - I 79065035 79065040 1 12 265.505 - - 4 1 1 - - ./. 0 0 0 0 27 34 27 34 0 0 ./. 3 2 5 2 23 18 24 18 5 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774863939 2 103595281 A AT 360 PASS - - - - - Ins - I 103595281 103595290 1 12 318.606 - - 8 1 1 - - ./. 0 0 0 0 31 29 33 29 0 0 ./. 5 1 7 2 19 13 19 14 7 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774866142 2 111718347 TA T 540 PASS ACOXL CCDS42730.1 r.? - - Del intronic D 111718347 111718354 1 30 482.726 - - 6 1 1 ACOXL|CCDS42730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACOXL|CCDS42730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 35 20 35 20 0 0 ./. 5 4 8 4 19 15 19 15 8 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774867840 2 117245340 TC T 300 PASS - - - - - Del - D 117245340 117245344 1 12 268.516 - - 3 1 1 - - ./. 0 0 0 0 29 23 29 23 0 0 ./. 2 3 2 6 17 22 17 22 2 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774867988 2 117840516 CT C 360 PASS - - - - - Del - D 117840516 117840524 1 15 322.219 - - 7 1 1 - - ./. 0 0 0 0 29 34 29 34 0 0 ./. 2 4 2 5 13 18 13 18 2 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774870726 2 127385872 CA C 420 PASS - - - - - Del - D 127385872 127385878 1 20 375.922 - - 5 1 1 - - ./. 0 0 0 0 30 26 30 26 0 0 ./. 4 3 5 6 16 17 16 17 5 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774882737 2 166627755 CTTCATTTTATGTAG C 261 PASS GALNT3 CCDS2226.1 r.? - - Del intronic D 166627755 166627772 14 28 483.328 - - 1 1 1 GALNT3|CCDS2226.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GALNT3|ENST00000412248|r.454+6_454+19delcuacauaaaaugaa|c.?|p.?|protein_coding:five_prime_UTR:extended_intronic_splice_region:intron:deletion:5_prime_UTR_variant:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000204:SO:CGPX05:SO:0000188:SO:0000159:SO:0001623:SO:CGPX04:SO:0001627:SO:0001576 ./. 0 0 0 0 29 14 29 14 0 0 ./. 6 3 5 3 15 10 16 10 6 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774887284 2 179697915 TA T 300 PASS CCDC141 CCDS2281.1 r.? - - Del downstream D 179697915 179697925 1 10 268.516 - - 9 1 1 CCDC141|CCDS2281.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TTN|ENST00000412264|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 21 28 21 28 0 0 ./. 1 4 6 5 23 18 23 18 6 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774890295 2 190844636 C CA 876 PASS - - - - - Ins - I 190844636 190844643 1 66 796.516 - - 6 1 1 - - ./. 0 0 0 0 23 38 24 38 0 0 ./. 10 5 11 7 25 19 25 19 11 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774891296 2 194267017 GT G 463 PASS - - - - - Del - D 194267017 194267027 1 30 483.328 - - 9 1 1 - - ./. 0 0 0 0 34 42 34 42 0 0 ./. 4 5 7 7 21 21 21 21 7 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774904449 2 235051150 CT C 420 PASS - - - - - Del - D 235051150 235051153 1 14 374.718 - - 2 1 1 - - ./. 0 0 0 0 32 25 32 25 0 0 ./. 6 1 6 3 23 14 23 14 6 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774905123 2 236841858 A AT 360 PASS AGAP1 CCDS33408.1 r.? - - Ins intronic I 236841858 236841866 1 15 318.606 - - 7 1 1 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 30 26 30 26 0 0 ./. 4 2 4 3 15 25 16 25 4 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774905219 2 237097720 CATGG C 449 PASS ASB18 ENST00000330842 r.? - - Del downstream D 237097720 237097727 4 21 429.023 - - 1 1 1 ASB18|ENST00000330842|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000233611|ENST00000415226|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 48 31 48 31 0 0 ./. 6 2 6 2 17 10 17 10 6 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774909995 20 8897598 C CT 360 PASS - - - - - Ins - I 8897598 8897608 1 15 321.896 - - 9 1 1 - - ./. 0 0 0 0 27 31 27 31 0 0 ./. 2 4 4 4 14 14 15 14 4 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774911176 20 12943039 CA C 300 PASS - - - - - Del - D 12943039 12943042 1 6 271.257 - - 2 1 1 - - ./. 0 0 0 0 20 29 20 29 0 0 ./. 0 5 1 7 5 15 5 15 1 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774923962 20 49858393 G GT 300 PASS - - - - - Ins - I 49858393 49858401 1 6 265.838 - - 7 1 - - - ./. 0 0 0 0 30 39 31 39 0 0 ./. 5 0 5 3 21 25 22 25 5 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774927953 20 60752187 ATG A 480 PASS SS18L1 CCDS13491.1 r.? - - Del intronic D 60752187 60752192 2 24 414.143 - - 2 1 1 SS18L1|CCDS13491.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SS18L1|CCDS13491.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 22 24 22 0 0 ./. 3 5 3 7 16 30 16 30 3 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774951739 22 35140794 A AT 509 PASS - - - - - Ins - I 35140794 35140801 1 30 485.222 - - 6 1 1 - - ./. 0 0 0 0 20 17 20 21 0 0 ./. 5 4 5 5 19 16 19 16 5 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774953200 22 39492886 CG C 420 PASS APOBEC3H CCDS13985.1 r.? - - Del upstream D 39492886 39492891 1 18 381.609 - - 4 1 1 APOBEC3H|CCDS13985.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 APOBEC3H|CCDS13985.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 16 16 16 16 0 0 ./. 5 2 5 3 18 9 18 9 5 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774962164 3 17168644 TC T 300 PASS - - - - - Del - D 17168644 17168646 1 12 269 - - 1 1 1 - - ./. 0 0 0 0 25 25 25 25 0 0 ./. 2 3 3 4 28 23 28 23 3 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774963195 3 21297287 T TCACTGCTG 261 PASS - - - - - Ins - I 21297287 21297296 8 24 440.851 - - 1 1 1 - - ./. 0 0 0 0 36 13 36 13 0 0 ./. 2 7 2 6 14 16 14 19 2 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774973552 3 61960687 TC T 360 PASS PTPRG CCDS2895.1 r.? - - Del intronic D 61960687 61960689 1 7 322.799 - - 1 1 1 PTPRG|CCDS2895.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRG|CCDS2895.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 27 31 27 0 0 ./. 0 6 1 8 8 25 8 25 1 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774978611 3 78276219 CCTT C 389 PASS - - - - - Del - D 78276219 78276223 3 20 376.599 - - 1 1 1 - - ./. 0 0 0 0 30 22 30 22 0 0 ./. 4 3 6 4 15 11 15 11 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774978754 3 79035547 C CT 360 PASS ROBO1 CCDS46872.1 r.? - - Ins intronic I 79035547 79035557 1 15 314.973 - - 9 1 1 ROBO1|CCDS46872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROBO1|CCDS46872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 30 28 30 29 0 0 ./. 2 4 2 4 15 14 15 14 2 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774981586 3 89964822 TC T 420 PASS - - - - - Del - D 89964822 89964824 1 20 375.395 - - 1 1 1 - - ./. 0 0 0 0 33 24 33 24 0 0 ./. 4 3 5 5 23 23 23 23 5 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774987423 3 111344280 GAC G 420 PASS CD96 CCDS2959.1 r.? - - Del intronic D 111344280 111344284 2 20 376.599 - - 1 1 1 CD96|CCDS2959.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD96|CCDS2959.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 33 25 33 25 0 0 ./. 4 3 5 6 21 16 21 16 5 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2774988886 3 115952562 CA C 360 PASS LSAMP CCDS2982.1 r.? - - Del intronic D 115952562 115952570 1 16 322.799 - - 7 1 1 LSAMP|CCDS2982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LSAMP|CCDS2982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 27 23 27 0 0 ./. 3 3 4 5 23 17 23 17 4 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775003526 3 161430167 T TA 360 PASS - - - - - Ins - I 161430167 161430168 1 16 318.585 - - 0 1 1 - - ./. 0 0 0 0 30 27 30 27 0 0 ./. 3 3 3 3 26 24 26 24 3 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775011966 3 186258207 TG T 540 PASS CRYGS CCDS3275.1 r.? - - Del intronic D 186258207 186258210 1 30 484.199 - - 2 1 1 CRYGS|CCDS3275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRYGS|CCDS3275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 28 25 28 0 0 ./. 5 4 5 6 20 13 20 13 5 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775012093 3 186502769 AAGCTC A 536 PASS SNORA63 CCDS3282.1 r.292_296delAGCUC c.228_232delAGCTC p.A77fs*20 Del frameshift D 186502769 186502777 5 40 584.574 - - 1 1 1 SNORA63|CCDS3282.1|r.292_296delAGCUC|c.228_232delAGCTC|p.A77fs*20|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SNORA63|CCDS3282.1|r.292_296delAGCUC|c.228_232delAGCTC|p.A77fs*20|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 25 21 25 21 0 0 ./. 7 4 6 5 23 20 24 20 7 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775014121 3 192262410 CAT C 360 PASS FGF12 CCDS46983.1 r.? - - Del intronic D 192262410 192262416 2 15 322.799 - - 2 1 1 FGF12|CCDS46983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF12|CCDS46983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 36 19 36 0 0 ./. 2 4 2 7 16 19 16 19 2 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775022222 4 19753421 A AAT 360 PASS - - - - - Ins - I 19753421 19753428 2 16 315.49 - - 3 1 1 - - ./. 0 0 0 0 30 38 30 38 0 0 ./. 3 3 4 4 19 15 19 15 4 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775033025 4 56456761 CT C 329 PASS PDCL2 CCDS47059.1 r.? - - Del intronic D 56456761 56456763 1 15 322.715 - - 1 1 1 PDCL2|CCDS47059.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDCL2|CCDS47059.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 26 23 26 0 0 ./. 2 4 3 6 25 28 26 28 3 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775033848 4 58396426 AAG A 360 PASS - - - - - Del - D 58396426 58396431 2 7 321.511 - - 2 1 1 - - ./. 0 0 0 0 24 27 24 27 0 0 ./. 6 0 6 0 21 15 21 15 6 0 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775040108 4 77678352 AATTT A 329 PASS SHROOM3 CCDS3579.2 r.? - - Del intronic D 77678352 77678363 4 15 322.715 - - 2 1 1 SHROOM3|CCDS3579.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHROOM3|CCDS3579.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 28 31 28 0 0 ./. 4 2 6 2 30 19 30 19 6 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775041517 4 82926180 GA G 300 PASS - - - - - Del - D 82926180 82926188 1 12 268.929 - - 7 1 1 - - ./. 0 0 0 0 24 25 24 25 0 0 ./. 2 3 3 3 14 23 14 23 3 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775041591 4 83165271 TCAC T 389 PASS - - - - - Del - D 83165271 83165277 3 20 376.501 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 4 4 5 18 26 18 26 4 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775050691 4 114683828 AT A 540 PASS CAMK2D CCDS3704.1 r.? - - Del upstream D 114683828 114683832 1 24 478.654 - - 3 1 1 CAMK2D|CCDS3704.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CAMK2D|CCDS3704.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 32 21 32 21 0 0 ./. 2 7 2 8 18 30 18 30 2 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775051060 4 115960766 TA T 360 PASS NDST4 CCDS3706.1 r.? - - Del intronic D 115960766 115960771 1 16 322.715 - - 4 1 1 NDST4|CCDS3706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NDST4|CCDS3706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 30 24 30 0 0 ./. 3 3 3 3 18 17 18 17 3 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775051608 4 117900830 GAAAT G 329 PASS - - - - - Del - D 117900830 117900840 4 7 322.113 - - 2 1 1 - - ./. 0 0 0 0 24 39 24 39 0 0 ./. 0 6 1 6 14 23 14 23 1 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775051719 4 118238188 GA G 420 PASS - - - - - Del - D 118238188 118238195 1 20 376.501 - - 6 1 1 - - ./. 0 0 0 0 31 35 31 35 0 0 ./. 3 4 3 5 17 22 17 22 3 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775057246 4 136530473 TG T 360 PASS - - - - - Del - D 136530473 136530475 1 16 322.715 - - 1 1 1 - - ./. 0 0 0 0 16 27 16 27 0 0 ./. 3 3 4 5 11 18 11 18 4 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775059028 4 141871043 TG T 360 PASS RNF150 ENST00000306799 r.? - - Del intronic D 141871043 141871046 1 16 322.715 - - 2 1 1 RNF150|ENST00000306799|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF150|ENST00000306799|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 26 25 26 0 0 ./. 3 3 3 4 14 17 14 17 3 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775064409 4 160932436 TGG T 660 PASS - - - - - Del - D 160932436 160932440 2 40 591.644 - - 3 1 1 - - ./. 0 0 0 0 29 35 29 35 0 0 ./. 4 7 4 8 18 17 18 17 4 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775065566 4 165150656 CAG C 509 PASS MARCH1 CCDS45732.1 r.? - - Del intronic D 165150656 165150659 2 30 484.072 - - 1 1 1 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 26 14 26 0 0 ./. 4 5 8 9 14 28 14 28 8 9 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775065913 4 166087822 G GA 300 PASS TMEM192 ENST00000506087 r.? - - Ins intronic I 166087822 166087830 1 12 264.715 - - 7 1 1 TMEM192|ENST00000506087|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM192|ENST00000506087|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 34 37 34 38 0 0 ./. 2 3 4 4 26 19 26 19 4 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775071614 4 182537096 C CT 420 PASS - - - - - Ins - I 182537096 182537102 1 20 371.082 - - 5 1 1 - - ./. 0 0 0 0 14 26 15 26 0 0 ./. 4 3 5 3 15 13 15 13 5 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775074230 4 188893649 G GA 360 PASS - - - - - Ins - I 188893649 188893658 1 12 319.103 - - 8 1 1 - - ./. 0 0 0 0 24 40 24 40 0 0 ./. 5 1 5 3 18 19 19 19 5 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775077342 5 3238021 G GT 389 PASS - - - - - Ins - I 3238021 3238030 1 18 372.761 - - 8 1 1 - - ./. 0 0 0 0 30 18 30 18 0 0 ./. 2 5 3 6 26 31 29 32 3 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775077795 5 4389935 G GT 420 PASS - - - - - Ins - I 4389935 4389942 1 14 372.761 - - 6 1 1 - - ./. 0 0 0 0 25 29 25 29 0 0 ./. 1 6 1 8 24 31 24 31 1 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775077934 5 4805572 CT C 420 PASS ENSG00000224867 ENST00000416839 r.? - - Del intronic D 4805572 4805582 1 20 376.976 - - 9 1 1 ENSG00000224867|ENST00000416839|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000224867|ENST00000416839|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 34 23 34 0 0 ./. 3 4 3 5 25 28 25 28 3 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775081034 5 13586040 AAG A 360 PASS - - - - - Del - D 13586040 13586048 2 16 323.122 - - 3 1 1 - - ./. 0 0 0 0 23 24 23 24 0 0 ./. 3 3 3 5 24 28 24 28 3 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775081053 5 13640406 AT A 480 PASS - - - - - Del - D 13640406 13640414 1 24 430.829 - - 7 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 3 8 5 23 9 23 9 8 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775081779 5 15808991 CTTTTT CA 418 PASS FBXL7 ENST00000504595 r.? - - Complex intronic DI 15808992 15808996 5 25 0 - - 0 1 1 FBXL7|ENST00000504595|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 FBXL7|ENST00000504595|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 20 36 20 36 0 0 ./. 4 4 0 0 29 27 29 27 4 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775083182 5 19115571 AG A 480 PASS - - - - - Del - D 19115571 19115573 1 25 430.829 - - 1 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 4 4 6 5 40 26 40 26 6 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775085861 5 26529976 T TA 420 PASS - - - - - Ins - I 26529976 26529984 1 20 372.761 - - 7 1 1 - - ./. 0 0 0 0 35 29 35 29 0 0 ./. 4 3 5 3 34 38 34 38 5 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775087859 5 31702327 A AT 540 PASS PDZD2 CCDS34137.1 r.? - - Ins intronic I 31702327 31702336 1 28 479.265 - - 8 1 1 PDZD2|CCDS34137.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PDZD2|CCDS34137.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 24 26 24 0 0 ./. 3 6 4 7 35 32 35 32 4 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775101367 5 79070089 TC T 480 PASS CMYA5 CCDS47238.1 r.? - - Del intronic D 79070089 79070091 1 21 430.829 - - 1 1 1 CMYA5|CCDS47238.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CMYA5|CCDS47238.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 33 22 33 22 0 0 ./. 2 6 3 6 16 17 16 17 3 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775104521 5 91959096 A AC 540 PASS - - - - - Ins - I 91959096 91959097 1 28 479.265 - - 0 1 1 - - ./. 0 0 0 0 37 38 37 38 0 0 ./. 6 3 8 5 22 19 22 19 8 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775105121 5 94928253 C CT 420 PASS ARSK CCDS4073.1 r.? - - Ins intronic I 94928253 94928263 1 20 372.761 - - 9 1 1 ARSK|CCDS4073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARSK|CCDS4073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 31 24 31 0 0 ./. 3 4 3 4 25 17 26 17 3 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775115101 5 132796759 G GA 480 PASS FSTL4 CCDS34238.1 r.? - - Ins intronic I 132796759 132796767 1 25 425.411 - - 7 1 1 FSTL4|CCDS34238.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FSTL4|CCDS34238.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 37 35 37 35 0 0 ./. 4 4 4 4 31 23 31 23 4 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775115642 5 134629111 CT C 420 PASS - - - - - Del - D 134629111 134629116 1 20 376.976 - - 4 1 1 - - ./. 0 0 0 0 25 34 25 34 0 0 ./. 3 4 4 7 13 20 13 20 4 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775118197 5 143409396 TA T 300 PASS - - - - - Del - D 143409396 143409402 1 6 269.268 - - 5 1 1 - - ./. 0 0 0 0 31 15 31 15 0 0 ./. 0 5 2 6 8 15 8 15 2 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775128160 5 176062780 T TA 300 PASS EIF4E1B CCDS47345.1 r.? - - Ins intronic I 176062780 176062786 1 6 266.258 - - 5 1 1 EIF4E1B|CCDS47345.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 EIF4E1B|CCDS47345.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 23 17 24 0 0 ./. 0 5 2 8 13 22 13 22 2 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775132669 6 7730018 A AG 360 PASS BMP6 CCDS4503.1 r.? - - Ins intronic I 7730018 7730025 1 16 319.415 - - 6 1 1 BMP6|CCDS4503.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BMP6|CCDS4503.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 21 26 21 0 0 ./. 3 3 4 6 25 16 25 17 4 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775134071 6 11589026 TCCC TA 615 PASS - - - - - Complex - DI 11589027 11589029 3 49 0 - - 0 1 1 - - ./. 0 0 0 0 26 28 26 28 0 0 ./. 6 6 0 0 24 19 24 19 6 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775142349 6 32254784 AT A 420 PASS - - - - - Del - D 32254784 32254787 1 20 376.263 - - 2 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 4 3 4 17 19 17 19 3 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775147956 6 46907616 TATAG T 269 PASS GPR116 CCDS4919.1 r.? - - Del intronic D 46907616 46907623 4 12 269.189 - - 1 1 1 GPR116|CCDS4919.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GPR116|CCDS4919.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 22 26 22 0 0 ./. 3 2 3 2 32 23 32 23 3 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775151331 6 56137403 CTG C 509 PASS COL21A1 ENST00000370819 r.? - - Del intronic D 56137403 56137409 2 30 481.53 - - 2 1 1 COL21A1|ENST00000370819|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 COL21A1|ENST00000370819|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 28 28 28 0 0 ./. 4 5 6 8 47 34 47 34 6 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775159990 6 81963363 A AT 300 PASS - - - - - Ins - I 81963363 81963373 1 10 266.179 - - 9 1 1 - - ./. 0 0 0 0 32 30 32 30 0 0 ./. 4 1 7 1 18 15 18 15 7 1 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775163151 6 92767403 GC G 480 PASS - - - - - Del - D 92767403 92767405 1 25 430.703 - - 1 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 4 4 5 4 23 15 23 15 5 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775171974 6 124905449 ATC A 300 PASS NKAIN2 CCDS34526.1 r.? - - Del intronic D 124905449 124905453 2 12 269.189 - - 1 1 1 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 46 29 46 0 0 ./. 2 3 3 5 19 15 19 15 3 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775172103 6 125393885 AC A 420 PASS RNF217 CCDS5129.1 r.? - - Del intronic D 125393885 125393888 1 20 376.865 - - 2 1 1 RNF217|CCDS5129.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF217|CCDS5129.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 33 25 33 0 0 ./. 4 3 5 3 22 18 22 18 5 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775182442 6 160619720 TAAA T 300 PASS - - - - - Del - D 160619720 160619726 3 12 269.189 - - 5 1 1 - - ./. 0 0 0 0 31 23 31 23 0 0 ./. 3 2 4 2 21 16 21 16 4 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775184982 6 168723557 GA G 300 PASS DACT2 CCDS47519.1 r.? - - Del upstream D 168723557 168723567 1 12 269.189 - - 9 1 1 DACT2|CCDS47519.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 DACT2|CCDS47519.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 38 17 38 0 0 ./. 2 3 4 3 19 11 19 11 4 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775185561 6 170480080 GT G 660 PASS - - - - - Del - D 170480080 170480085 1 42 592.216 - - 4 1 1 - - ./. 0 0 0 0 23 12 23 12 0 0 ./. 6 5 8 8 20 17 20 17 8 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775188803 7 7623558 G GT 360 PASS MIOS CCDS43554.1 r.? - - Ins intronic I 7623558 7623566 1 15 319.709 - - 7 1 1 MIOS|CCDS43554.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MIOS|CCDS43554.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 32 28 32 28 0 0 ./. 2 4 5 7 8 17 8 17 5 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775191764 7 17153506 AC A 540 PASS - - - - - Del - D 17153506 17153508 1 28 484.983 - - 1 1 1 - - ./. 0 0 0 0 21 28 21 28 0 0 ./. 6 3 7 4 24 12 24 12 7 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775194903 7 26734233 T TC 480 PASS SKAP2 CCDS5400.1 r.? - - Ins intronic I 26734233 26734235 1 24 426.279 - - 1 1 1 SKAP2|CCDS5400.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SKAP2|CCDS5400.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 35 20 35 20 0 0 ./. 5 3 6 4 20 17 20 17 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775199865 7 42298474 AC A 660 PASS - - - - - Del - D 42298474 42298476 1 42 592.757 - - 1 1 1 - - ./. 0 0 0 0 17 23 17 23 0 0 ./. 5 6 8 11 22 20 22 20 8 11 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775205401 7 61526836 CT C 347 PASS - - - - - Del - D 61526836 61526841 1 15 323.322 - - 4 1 1 - - ./. 0 0 0 0 41 48 41 50 0 0 ./. 2 4 2 4 30 33 31 33 2 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775211233 7 77538561 T TTAA 300 PASS PHTF2 CCDS47622.1 r.? - - Ins intronic I 77538561 77538569 3 12 259.2 - - 2 1 1 PHTF2|CCDS47622.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PHTF2|CCDS47622.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 34 30 34 30 0 0 ./. 3 2 4 2 13 13 13 13 4 2 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775218996 7 106330980 A AT 300 PASS - - - - - Ins - I 106330980 106330987 1 12 266.425 - - 6 1 1 - - ./. 0 0 0 0 19 17 20 17 0 0 ./. 3 2 9 4 25 16 25 16 9 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775245728 8 40694607 G GT 360 PASS ZMAT4 CCDS34885.1 r.? - - Ins intronic I 40694607 40694615 1 15 319.437 - - 7 1 1 ZMAT4|CCDS34885.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZMAT4|CCDS34885.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 38 26 40 0 0 ./. 4 2 6 4 30 23 30 23 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775250433 8 60027931 CT C 540 PASS TOX CCDS34897.1 r.? - - Del intronic D 60027931 60027935 1 30 485.478 - - 3 1 1 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 40 26 40 26 0 0 ./. 5 4 11 5 22 20 22 20 11 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775253125 8 69479496 C CT 277 PASS C8orf34 CCDS6203.1 r.? - - Ins intronic I 69479496 69479505 1 12 266.699 - - 8 1 1 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 33 23 33 0 0 ./. 2 3 5 8 13 30 13 30 5 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775253883 8 71690037 G GT 472 PASS - - - - - Ins - I 71690037 71690047 1 21 426.719 - - 9 1 1 - - ./. 0 0 0 0 35 28 35 28 0 0 ./. 6 2 9 3 34 24 35 25 9 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775256690 8 80945677 TG T 600 PASS TPD52 CCDS34912.1 r.? - - Del downstream D 80945677 80945682 1 36 535.205 - - 4 1 1 TPD52|CCDS34912.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MRPS28|CCDS6226.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 20 17 20 17 0 0 ./. 5 5 6 5 17 18 17 18 6 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775258896 8 88213392 G GA 360 PASS CNBD1 ENST00000319712 r.? - - Ins upstream I 88213392 88213399 1 16 320.039 - - 6 1 1 CNBD1|ENST00000319712|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CNBD1|ENST00000319712|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 50 39 52 39 0 0 ./. 3 3 3 7 24 21 25 21 3 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775268920 8 120730024 GA G 720 PASS - - - - - Del - D 120730024 120730026 1 45 646.099 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 8 5 9 14 28 14 28 5 9 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775275624 8 140837316 TG T 660 PASS TRAPPC9 CCDS34946.1 r.? - - Del intronic D 140837316 140837321 1 36 593.362 - - 4 1 1 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 27 21 27 0 0 ./. 3 8 6 9 26 23 26 23 6 9 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775280111 9 9441700 GA G 276 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 9441700 9441710 1 12 270.164 - - 9 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 41 17 41 0 0 ./. 3 2 4 4 18 19 18 19 4 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775282000 9 16138923 GT G 420 PASS - - - - - Del - D 16138923 16138929 1 20 378.23 - - 5 1 1 - - ./. 0 0 0 0 27 19 27 19 0 0 ./. 3 4 4 6 13 17 13 17 4 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775282780 9 18688018 A AT 300 PASS ADAMTSL1 CCDS47954.1 r.? - - Ins intronic I 18688018 18688027 1 12 267.154 - - 8 1 1 ADAMTSL1|CCDS47954.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAMTSL1|CCDS47954.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 36 18 36 0 0 ./. 2 3 2 4 8 20 8 21 2 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775284838 9 27608925 GC G 300 PASS - - - - - Del - D 27608925 27608928 1 12 269.562 - - 2 1 1 - - ./. 0 0 0 0 24 15 24 15 0 0 ./. 2 3 4 4 12 15 12 15 4 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775285802 9 30805635 C CA 540 PASS - - - - - Ins - I 30805635 30805643 1 28 480.877 - - 7 1 1 - - ./. 0 0 0 0 42 43 42 43 0 0 ./. 3 6 4 7 16 11 16 11 4 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775303107 9 111671163 C CAT 360 PASS IKBKAP CCDS6773.1 r.? - - Ins intronic I 111671163 111671164 2 15 311.554 - - 0 1 1 IKBKAP|CCDS6773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IKBKAP|CCDS6773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 21 19 22 0 0 ./. 2 4 2 6 11 17 11 17 2 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775304983 9 117284296 TG T 420 PASS - - - - - Del - D 117284296 117284298 1 18 378.23 - - 1 1 1 - - ./. 0 0 0 0 17 26 17 26 0 0 ./. 5 2 7 3 17 13 17 13 7 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775306086 9 121143619 CA C 420 PASS - - - - - Del - D 121143619 121143623 1 20 378.23 - - 3 1 1 - - ./. 0 0 0 0 20 41 20 41 0 0 ./. 4 3 5 5 18 13 18 13 5 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775306298 9 122176711 T TTAATA 300 PASS - - - - - Ins - I 122176711 122176717 5 12 255.113 - - 1 1 1 - - ./. 0 0 0 0 24 22 24 23 0 0 ./. 2 3 3 3 10 11 10 11 3 3 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775313851 X 8723080 ATAT A 540 PASS - - - - - Del - D 8723080 8723090 3 30 486.396 - - 3 1 1 - - ./. 0 0 0 0 24 32 24 32 0 0 ./. 4 5 6 6 32 28 32 28 6 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775315091 X 13658902 G GT 480 PASS - - - - - Ins - I 13658902 13658911 1 24 426.332 - - 8 1 1 - - ./. 0 0 0 0 29 16 29 16 0 0 ./. 3 5 5 6 30 32 30 32 5 6 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775316276 X 18096760 GT G 300 PASS - - - - - Del - D 18096760 18096766 1 6 270.22 - - 5 1 1 - - ./. 0 0 0 0 8 20 8 20 0 0 ./. 0 5 0 5 16 19 16 19 0 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775316798 X 19762538 T TG 420 PASS SH3KBP1 CCDS14193.1 r.? - - Ins intronic I 19762538 19762544 1 18 372.288 - - 5 1 1 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 25 24 25 0 0 ./. 2 5 2 5 22 24 22 24 2 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775323507 X 47332430 AT A 540 PASS ZNF41 CCDS14279.1 r.? - - Del intronic D 47332430 47332440 1 30 483.988 - - 9 1 1 ZNF41|CCDS14279.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF41|CCDS14279.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 34 22 34 22 0 0 ./. 5 4 6 4 20 17 20 17 6 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775331355 X 92009675 CTA C 478 PASS - - - - - Del - D 92009675 92009682 2 24 486.396 - - 3 1 1 - - ./. 0 0 0 0 36 25 36 25 0 0 ./. 2 7 2 7 7 13 7 13 2 7 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775331579 X 93365200 CTT C 300 PASS - - - - - Del - D 93365200 93365204 2 10 270.22 - - 3 1 1 - - ./. 0 0 0 0 20 28 20 28 0 0 ./. 1 4 2 4 15 11 15 11 2 4 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775337411 X 123900275 CTT C 660 PASS ODZ1 CCDS14609.1 r.? - - Del intronic D 123900275 123900280 2 42 594.484 - - 4 1 1 ODZ1|CCDS14609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ1|CCDS14609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 33 36 33 36 0 0 ./. 6 5 7 5 10 12 10 12 7 5 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775339420 X 133320055 G GT 600 PASS - - - - - Ins - I 133320055 133320063 1 35 530.808 - - 7 1 1 - - ./. 0 0 0 0 17 30 18 30 0 0 ./. 4 6 6 8 16 20 16 20 6 8 1 1 1 1 1 1 1 1 2820495 PD14446a PD14446b 2775341077 X 141195370 AATG A 360 PASS - - - - - Del - D 141195370 141195376 3 16 324.264 - - 1 1 1 - - ./. 0 0 0 0 37 18 37 18 0 0 ./. 3 3 5 4 14 15 14 15 5 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717695792 1 23642851 GT G 449 PASS HNRNPR CCDS232.1 r.? - - Del intronic D 23642851 23642855 1 24 428.41 - - 3 1 1 HNRNPR|CCDS232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HNRNPR|CCDS232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 5 4 7 21 22 21 22 4 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717697502 1 27676198 CCT C 420 PASS SYTL1 CCDS298.1 r.821_822delCU c.654_655delCT p.L220fs*14 Del frameshift D 27676198 27676206 2 14 376.439 - - 3 1 1 SYTL1|CCDS298.1|r.821_822delCU|c.654_655delCT|p.L220fs*14|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SYTL1|CCDS298.1|r.821_822delCU|c.654_655delCT|p.L220fs*14|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 7 8 7 8 0 0 ./. 6 1 12 4 21 17 21 17 12 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717701721 1 40385726 C CA 420 PASS - - - - - Ins - I 40385726 40385734 1 20 372.224 - - 7 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 3 4 5 32 21 32 22 4 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717701862 1 40705444 GCCT G 447 PASS RLF CCDS448.1 r.5098_5100delCCU c.5071_5073delCCT p.P1694delP Del inframe D 40705444 40705457 3 28 480.983 - - 4 1 1 RLF|CCDS448.1|r.5098_5100delCCU|c.5071_5073delCCT|p.P1694delP|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 RLF|CCDS448.1|r.5098_5100delCCU|c.5071_5073delCCT|p.P1694delP|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 7 5 7 5 0 0 ./. 6 3 8 6 23 24 23 24 8 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717722061 1 108622239 G GT 300 PASS - - - - - Ins - I 108622239 108622249 1 6 265.875 - - 9 1 1 - - ./. 0 0 0 0 7 9 7 10 0 0 ./. 0 5 0 5 16 26 16 27 0 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717741845 1 184006112 G GC 300 PASS GLT25D2 CCDS1360.1 r.? - - Ins intronic I 184006112 184006120 1 6 265.875 - - 7 1 1 GLT25D2|CCDS1360.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GLT25D2|CCDS1360.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 0 5 3 26 19 26 19 5 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717742749 1 187488273 ATTT A 329 PASS - - - - - Del - D 187488273 187488279 3 15 322.662 - - 5 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 4 3 4 16 18 16 18 3 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717745588 1 195215591 CT C 898 PASS - - - - - Del - D 195215591 195215595 1 80 860.432 - - 3 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 7 9 8 14 20 32 20 32 8 14 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717754477 1 222089865 C CAG 300 PASS - - - - - Ins - I 222089865 222089867 2 10 262.262 - - 0 1 - - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 1 4 5 7 18 21 18 21 5 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717786355 10 59890978 G GTA 275 PASS - - - - - Ins - I 59890978 59890984 2 12 263.674 - - 2 1 - - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 3 5 18 27 19 27 3 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717789585 10 69171570 A AT 480 PASS CTNNA3 CCDS7269.1 r.? - - Ins intronic I 69171570 69171572 1 25 426.696 - - 1 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 4 4 5 4 28 19 29 19 5 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717795527 10 87583424 G GA 360 PASS GRID1 CCDS31236.1 r.? - - Ins intronic I 87583424 87583433 1 15 320.022 - - 8 1 1 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 11 11 0 0 ./. 4 2 5 2 31 14 31 14 5 2 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717803090 10 109663540 CTTTTGTTCAGTGGCTCTGGAGAGTCAAAA C 319 PASS - - - - - Del - D 109663540 109663570 29 42 593.329 - - 1 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 5 6 2 4 17 17 21 19 6 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717805448 10 117322910 TC T 300 PASS ATRNL1 CCDS7592.1 r.? - - Del intronic D 117322910 117322913 1 12 269.695 - - 2 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 2 4 5 22 20 22 20 4 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717821565 11 25194757 TC T 300 PASS - - - - - Del - D 25194757 25194759 1 6 245.77 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 0 7 0 45 20 45 20 7 0 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717828667 11 43539498 T TA 480 PASS - - - - - Ins - I 43539498 43539508 1 21 425.141 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 2 9 4 42 26 42 28 9 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717836274 11 65946736 C CAA 1380 PASS PACS1 CCDS8129.1 r.? - - Ins intronic I 65946736 65946739 2 156 1211.82 - - 2 1 1 PACS1|CCDS8129.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PACS1|CCDS8129.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 12 11 14 11 38 28 38 28 14 11 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717839385 11 73450533 A ATTTTTTG 719 PASS RAB6A CCDS8223.1 r.? - - Ins intronic I 73450533 73450540 7 92 1239.69 - - 0 1 1 RAB6A|CCDS8223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAB6A|CCDS8223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 2 11 2 0 0 ./. 22 3 23 2 68 8 70 9 24 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717840609 11 75087931 G GA 540 PASS - - - - - Ins - I 75087931 75087940 1 28 480.315 - - 8 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 6 3 9 4 84 85 84 85 9 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717841023 11 75795066 CTG C 480 PASS UVRAG CCDS8241.1 r.? - - Del intronic D 75795066 75795070 2 24 431.764 - - 1 1 1 UVRAG|CCDS8241.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UVRAG|CCDS8241.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 5 5 9 77 65 77 65 5 9 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717841186 11 76094818 T TC 389 PASS PRKRIR CCDS8243.1 r.? - - Ins upstream I 76094818 76094822 1 20 371.773 - - 3 1 1 PRKRIR|CCDS8243.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ENSG00000179240|ENST00000321844|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 4 5 7 71 106 73 107 5 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717841601 11 76773252 TGTA T 269 PASS CAPN5 CCDS8248.1 r.? - - Del upstream D 76773252 76773256 3 6 257.811 - - 1 1 - CAPN5|CCDS8248.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CAPN5|CCDS8248.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 0 14 0 59 56 59 56 14 0 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717845105 11 82650488 TG T 660 PASS C11orf82 CCDS8263.1 r.? - - Del downstream D 82650488 82650491 1 42 592.471 - - 2 1 1 C11orf82|CCDS8263.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C11orf82|CCDS8263.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 7 6 7 0 0 ./. 6 5 6 9 69 87 69 87 6 9 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717845945 11 85661538 G GA 780 PASS - - - - - Ins - I 85661538 85661541 1 54 693.187 - - 2 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 8 5 9 7 19 17 19 17 9 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717849830 11 98598397 G GA 300 PASS - - - - - Ins - I 98598397 98598407 1 12 266.24 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 16 0 0 ./. 2 3 2 5 11 26 11 26 2 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717850446 11 100539590 A AT 300 PASS - - - - - Ins - I 100539590 100539599 1 12 264.434 - - 8 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 2 4 2 23 22 23 22 4 2 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717854209 11 112438944 C CT 360 PASS - - - - - Ins - I 112438944 112438951 1 12 320.21 - - 6 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 1 6 5 22 14 22 15 6 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717855516 11 117004229 C CAG 495 PASS - - - - - Ins - I 117004229 117004232 2 30 459.845 - - 1 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 5 5 6 15 13 15 14 5 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717863933 12 7927416 AT A 569 PASS ENSG00000205857 CCDS44826.1 r.? - - Del downstream D 7927416 7927425 1 35 539.262 - - 8 1 1 ENSG00000205857|CCDS44826.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000205857|CCDS44826.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 4 7 5 21 23 22 23 7 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717864507 12 8915529 CT C 478 PASS RIMKLB CCDS41748.1 r.? - - Del intronic D 8915529 8915538 1 30 484.673 - - 8 1 1 RIMKLB|CCDS41748.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMKLB|CCDS41748.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 5 4 7 6 30 23 30 23 7 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717871754 12 26867789 TG T 540 PASS ITPR2 CCDS41764.1 r.? - - Del intronic D 26867789 26867792 1 30 485.878 - - 2 1 1 ITPR2|CCDS41764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITPR2|CCDS41764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 4 8 5 26 14 26 14 8 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717875112 12 34675936 CCAGT C 298 PASS - - - - - Del - D 34675936 34675943 4 12 322.714 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 1 5 1 5 21 27 21 27 1 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717876237 12 40988887 C CA 300 PASS - - - - - Ins - I 40988887 40988897 1 12 264.513 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 2 3 36 28 36 28 2 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717883966 12 62235870 A AT 360 PASS FAM19A2 CCDS8962.1 r.? - - Ins intronic I 62235870 62235880 1 15 320.306 - - 9 1 1 FAM19A2|CCDS8962.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM19A2|CCDS8962.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 2 4 4 6 29 37 30 37 4 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717885417 12 66339547 A AT 360 PASS HMGA2 CCDS44936.1 r.? - - Ins intronic I 66339547 66339554 1 16 320.306 - - 6 1 1 HMGA2|CCDS44936.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HMGA2|CCDS44936.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 3 4 6 27 35 27 35 4 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717897920 12 101680156 G GT 480 PASS UTP20 CCDS9081.1 r.540_541insu c.384_385insT p.L131fs*27 Ins frameshift I 101680156 101680165 1 25 427.075 - - 8 1 1 UTP20|CCDS9081.1|r.540_541insu|c.384_385insT|p.L131fs*27|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 UTP20|CCDS9081.1|r.540_541insu|c.384_385insT|p.L131fs*27|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 4 4 5 33 28 33 29 4 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717899346 12 105409955 G GA 660 PASS - - - - - Ins - I 105409955 105409963 1 42 587.228 - - 7 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 6 5 10 6 23 21 23 21 10 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717899736 12 106384125 T TA 660 PASS - - - - - Ins - I 106384125 106384127 1 30 584.819 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 9 5 12 28 43 28 45 5 12 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717908364 12 127486717 T TA 540 PASS AC078878.2 ENST00000512624 r.? - - Ins intronic I 127486717 127486725 1 30 479.255 - - 7 1 1 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 18 6 18 0 0 ./. 4 5 5 12 32 34 32 35 5 12 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717924138 13 57863951 G GT 420 PASS - - - - - Ins - I 57863951 57863961 1 20 372.368 - - 9 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 3 5 7 16 19 16 19 5 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717937182 13 97932889 GC G 420 PASS MBNL2 CCDS9484.1 r.? - - Del intronic D 97932889 97932893 1 20 378.99 - - 3 1 1 MBNL2|CCDS9484.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MBNL2|CCDS9484.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 4 6 7 17 18 17 18 6 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717945539 14 27932527 CAATG C 269 PASS - - - - - Del - D 27932527 27932532 4 10 271.416 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 4 1 4 13 16 13 16 1 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717950798 14 44360738 TGCTGCAATTTTAAATAAGGGC T 522 PASS - - - - - Del - D 44360738 44360760 21 100 977.097 - - 1 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 9 9 7 9 23 14 25 14 9 9 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717971426 15 22501023 G GA 254 PASS - - - - - Ins - I 22501023 22501033 1 12 268.457 - - 9 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 3 2 3 3 37 41 37 41 3 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717978334 15 45058934 TA T 509 PASS TRIM69 CCDS32220.1 r.? - - Del intronic D 45058934 45058936 1 30 485.028 - - 1 1 1 TRIM69|CCDS32220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIM69|CCDS32220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 4 5 7 6 17 11 17 11 7 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717984135 15 63986355 T TC 660 PASS HERC1 CCDS45277.1 r.5629_5630insg c.5481_5482insG p.T1828fs*4 Ins frameshift I 63986355 63986358 1 42 590.605 - - 2 1 1 HERC1|CCDS45277.1|r.5629_5630insg|c.5481_5482insG|p.T1828fs*4|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 HERC1|CCDS45277.1|r.5629_5630insg|c.5481_5482insG|p.T1828fs*4|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 14 17 15 17 0 0 ./. 5 6 9 7 21 13 21 13 9 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717992541 15 91724483 AG A 437 PASS SV2B CCDS10370.1 r.? - - Del intronic D 91724483 91724485 1 28 488.039 - - 1 1 1 SV2B|CCDS10370.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SV2B|CCDS10370.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 6 5 9 18 34 18 34 5 9 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717992944 15 93069550 G GA 300 PASS - - - - - Ins - I 93069550 93069557 1 12 268.457 - - 6 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 3 4 4 22 23 22 23 4 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717998012 16 3397748 ACACACACGCACACATATGAACACACATG A 406 PASS - - - - - Del - D 3397748 3397791 28 55 757.983 - - 1 1 - - - ./. 0 0 0 0 9 2 9 2 0 0 ./. 4 10 1 6 15 21 16 23 4 10 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717998046 16 3472088 TG T 329 PASS - - - - - Del - D 3472088 3472091 1 12 323.646 - - 2 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 1 7 2 27 31 27 31 7 2 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2717998639 16 4939042 T TG 929 PASS PPL CCDS10526.1 r.2423_2424insc c.2333_2334insC p.S779fs*2 Ins frameshift I 4939042 4939044 1 72 855.429 - - 1 1 1 PPL|CCDS10526.1|r.2423_2424insc|c.2333_2334insC|p.S779fs*2|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 PPL|CCDS10526.1|r.2423_2424insc|c.2333_2334insC|p.S779fs*2|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 11 8 12 19 31 20 31 8 12 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718005964 16 21611954 GT G 658 PASS METTL9 CCDS10598.2 r.? - - Del intronic D 21611954 21611957 1 48 649.098 - - 2 1 1 METTL9|CCDS10598.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 METTL9|CCDS10598.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 2 8 2 0 0 ./. 7 5 8 6 28 19 28 19 8 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718008104 16 26617226 G GA 300 PASS - - - - - Ins - I 26617226 26617236 1 12 267.698 - - 9 1 1 - - ./. 0 0 0 0 10 3 10 3 0 0 ./. 2 3 2 3 32 19 32 19 2 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718018250 16 60969371 GC G 660 PASS - - - - - Del - D 60969371 60969373 1 36 595.558 - - 1 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 8 6 11 23 22 23 22 6 11 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718024805 16 77330938 ATCATGACTCACT A 385 PASS ADAMTS18 CCDS10926.1 r.? - - Del intronic D 77330938 77330951 12 44 685.177 - - 1 1 1 ADAMTS18|CCDS10926.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS18|CCDS10926.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 10 3 11 2 36 17 36 18 11 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718028924 16 87599948 G GT 780 PASS - - - - - Ins - I 87599948 87599957 1 50 691.8 - - 8 1 1 - - ./. 0 0 0 0 13 12 14 12 0 0 ./. 9 4 15 9 50 25 50 26 15 9 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718037060 17 17058983 CATGACTTCATTTATTAAA C 290 PASS MPRIP CCDS32578.1 r.? - - Del intronic D 17058983 17059002 18 35 541.604 - - 1 1 1 MPRIP|CCDS32578.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MPRIP|CCDS32578.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 6 4 6 5 24 23 24 23 6 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718040068 17 25432694 CACA C 387 PASS - - - - - Del - D 25432694 25432700 3 24 433.283 - - 1 1 1 - - ./. 0 0 0 0 8 2 8 2 0 0 ./. 3 5 4 6 15 25 15 26 4 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718040167 17 25669994 CCT C 300 PASS - - - - - Del - D 25669994 25670011 2 12 270.2 - - 8 1 - - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 2 4 3 31 40 31 40 4 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718040749 17 27531197 A AT 329 PASS - - - - - Ins - I 27531197 27531204 1 12 321.35 - - 6 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 5 2 5 32 23 35 23 2 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718048470 17 45644981 C CG 282 PASS NPEPPS CCDS45721.1 r.? - - Ins intronic I 45644981 45644982 1 24 427.262 - - 0 1 1 NPEPPS|CCDS45721.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NPEPPS|CCDS45721.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 3 14 3 0 0 ./. 3 5 6 6 24 27 24 27 6 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718071313 18 26171168 G GT 480 PASS - - - - - Ins - I 26171168 26171177 1 16 429.091 - - 8 1 1 - - ./. 0 0 0 0 6 7 6 8 0 0 ./. 1 7 3 11 21 15 21 15 3 11 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718075438 18 41532091 TTC T 329 PASS - - - - - Del - D 41532091 41532109 2 15 325.882 - - 8 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 4 2 4 24 23 24 23 2 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718097978 19 21698353 A AT 300 PASS ZNF429 CCDS42537.1 r.? - - Ins intronic I 21698353 21698363 1 6 268.121 - - 9 1 1 ZNF429|CCDS42537.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF429|CCDS42537.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 0 5 0 37 29 37 29 5 0 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718164841 2 178284110 TTTGTA T 596 PASS AGPS CCDS2275.1 r.? - - Del intronic D 178284110 178284116 5 45 645.041 - - 1 1 1 AGPS|CCDS2275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGPS|CCDS2275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 8 4 9 20 25 20 25 4 9 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718173491 2 207399395 TAA T 360 PASS ADAM23 CCDS2369.1 r.? - - Del intronic D 207399395 207399398 2 15 323.123 - - 2 1 1 ADAM23|CCDS2369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM23|CCDS2369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 2 4 4 15 16 15 16 4 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718179922 2 228078792 TA T 389 PASS COL4A3 CCDS42829.1 r.? - - Del intronic D 228078792 228078796 1 20 376.976 - - 3 1 1 COL4A3|CCDS42829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL4A3|CCDS42829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 3 4 4 10 14 10 14 4 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718181124 2 231335609 CTG C 360 PASS SP100 CCDS2477.1 r.? - - Del intronic D 231335609 231335629 2 12 318.908 - - 9 1 - SP100|CCDS2477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SP100|CCDS2477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 1 5 2 5 17 23 17 23 2 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718181729 2 233101354 TACA T 743 PASS DIS3L2 CCDS42834.1 r.? - - Del intronic D 233101354 233101362 3 81 861.058 - - 2 1 1 DIS3L2|CCDS42834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIS3L2|CCDS42834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 8 8 12 10 24 27 24 27 12 10 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718195927 20 35447232 CAG C 329 PASS C20orf117 CCDS46598.1 r.? - - Del intronic D 35447232 35447237 2 15 326.234 - - 2 1 1 C20orf117|CCDS46598.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C20orf117|CCDS46598.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 2 5 4 33 27 33 27 5 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718196403 20 36612357 CAGG C 718 PASS KIAA0406 CCDS13300.1 r.? - - Del intronic D 36612357 36612363 3 56 706.84 - - 1 1 1 KIAA0406|CCDS13300.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0406|CCDS13300.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 6 7 8 7 26 21 26 21 8 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718204169 20 57829021 ATC A 300 PASS ZNF831 CCDS42894.1 r.4258_4259delUC c.4258_4259delTC p.L1421fs*3 Del frameshift D 57829021 57829027 2 10 271.861 - - 2 1 1 ZNF831|CCDS42894.1|r.4258_4259delUC|c.4258_4259delTC|p.L1421fs*3|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ZNF831|CCDS42894.1|r.4258_4259delUC|c.4258_4259delTC|p.L1421fs*3|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 1 5 1 26 18 26 18 5 1 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718214647 21 29968374 A AT 809 PASS - - - - - Ins - I 29968374 29968383 1 63 736.84 - - 8 1 1 - - ./. 0 0 0 0 13 7 14 7 0 0 ./. 6 8 9 11 24 26 25 26 9 11 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718216065 21 33503604 CTAA C 505 PASS - - - - - Del - D 33503604 33503608 3 40 598.814 - - 1 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 7 4 8 5 23 22 23 22 8 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718228070 22 33326332 GC G 360 PASS SYN3 CCDS13908.1 r.? - - Del intronic D 33326332 33326335 1 16 327.974 - - 2 1 1 SYN3|CCDS13908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYN3|CCDS13908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 3 4 5 23 8 23 8 4 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718229890 22 38572287 C CT 1020 PASS PLA2G6 CCDS13967.1 r.? - - Ins intronic I 38572287 38572289 1 70 913.608 - - 1 1 1 PLA2G6|CCDS13967.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PLA2G6|CCDS13967.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 13 4 15 6 26 13 27 13 15 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718232313 22 46082331 AGGGCTTCATAGAGGGAGTCTGTTTGTCTG A 290 PASS ATXN10 CCDS14070.1 r.? - - Del intronic D 46082331 46082362 29 36 546.624 - - 1 1 1 ATXN10|CCDS14070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATXN10|CCDS14070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 5 5 5 3 18 22 19 24 6 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718237217 3 8301849 AT A 480 PASS ENSG00000234563 ENST00000446572 r.? - - Del intronic D 8301849 8301852 1 21 430.678 - - 2 1 1 ENSG00000234563|ENST00000446572|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000234563|ENST00000446572|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 6 5 10 17 30 17 30 5 10 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718238236 3 11150907 C CT 960 PASS - - - - - Ins - I 11150907 11150914 1 77 851.723 - - 6 1 1 - - ./. 0 0 0 0 8 17 9 17 0 0 ./. 10 6 16 11 33 32 33 33 16 11 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718238993 3 12698496 CG C 660 PASS RAF1 CCDS2612.1 r.? - - Del intronic D 12698496 12698501 1 40 584.355 - - 4 1 1 RAF1|CCDS2612.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RAF1|CCDS2612.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 7 4 10 8 23 24 23 24 10 8 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718256929 3 63488858 A AT 720 PASS SYNPR CCDS46859.1 r.? - - Ins intronic I 63488858 63488867 1 48 635.18 - - 8 1 1 SYNPR|CCDS46859.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SYNPR|CCDS46859.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 7 5 9 10 26 30 26 31 9 10 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718257008 3 63768889 AT A 720 PASS - - - - - Del - D 63768889 63768891 1 45 645.414 - - 1 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 8 4 11 18 34 18 34 4 11 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718262130 3 75941506 CT C 720 PASS - - - - - Del - D 75941506 75941510 1 40 645.414 - - 3 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 3 9 7 10 23 23 23 23 7 10 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718265400 3 85772810 AT A 540 PASS CADM2 CCDS33792.1 r.? - - Del upstream D 85772810 85772812 1 30 484.512 - - 1 1 1 CADM2|CCDS33792.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 4 5 4 16 29 16 29 5 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718269534 3 101989764 TCTCA T 418 PASS ZPLD1 ENST00000491959 r.? - - Del intronic D 101989764 101989773 4 25 430.678 - - 2 1 1 ZPLD1|ENST00000491959|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZPLD1|ENST00000491959|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 4 5 6 20 16 20 16 5 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718270257 3 104075556 AAT A 300 PASS - - - - - Del - D 104075556 104075571 2 12 269.174 - - 7 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 2 3 2 3 20 42 20 42 2 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718271368 3 107268165 AAAAT A 840 PASS BBX CCDS2950.1 r.? - - Del intronic D 107268165 107268177 4 63 753.686 - - 2 1 1 BBX|CCDS2950.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BBX|CCDS2950.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 8 6 9 7 22 22 22 22 9 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718279612 3 130713179 TTTCACCTTTTTCTGGGCACTAATATGA T 290 PASS ATP2C1 CCDS46914.1 r.? - - Del intronic D 130713179 130713208 27 32 536.541 - - 1 1 1 ATP2C1|CCDS46914.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP2C1|CCDS46914.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 7 1 5 13 28 15 30 3 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718281885 3 137822108 TAC T 300 PASS DZIP1L CCDS3096.1 r.? - - Del intronic D 137822108 137822125 2 10 267.367 - - 8 1 - DZIP1L|CCDS3096.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DZIP1L|CCDS3096.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 1 5 1 28 22 28 22 5 1 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718285589 3 148479183 TACAGAGCTTC TAAAG 333 PASS - - - - - Complex - DI 148479184 148479193 10 30 0 - - 0 1 1 - - ./. 0 0 0 0 8 3 11 5 0 0 ./. 5 4 0 0 19 23 27 34 5 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718301277 3 191662022 TA T 420 PASS - - - - - Del - D 191662022 191662024 1 20 375.639 - - 1 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 4 3 9 8 25 26 25 26 9 8 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718310860 4 24111201 CTTACGGCATCTGAAATGTTAGAGTCTCCA C 290 PASS - - - - - Del - D 24111201 24111232 29 32 539.295 - - 1 1 1 - - ./. 0 0 0 0 6 4 6 4 0 0 ./. 7 3 4 3 9 9 12 9 7 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718317386 4 43640071 C CG 629 PASS - - - - - Ins - I 43640071 43640078 1 36 586.602 - - 6 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 8 3 11 4 21 12 21 12 11 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718318752 4 48720360 GACTGGTGAAATAT G 290 PASS FRYL CCDS43227.1 r.? - - Del intronic D 48720360 48720375 13 35 539.295 - - 1 1 1 FRYL|CCDS43227.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FRYL|CCDS43227.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 6 3 4 16 17 17 19 4 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718319118 4 49203023 TCCCGCTGACAAGGCTGCCCTGACCAGGGC T 296 PASS - - - - - Del - D 49203023 49203056 29 9 428.425 - - 1 1 1 - - ./. 0 0 0 0 3 8 3 8 0 0 ./. 0 8 0 1 8 12 8 20 0 9 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718349551 4 153476400 TTC T 300 PASS - - - - - Del - D 153476400 153476404 2 6 250.984 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 0 7 0 32 12 32 12 7 0 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718352576 4 163075814 CA C 780 PASS FSTL5 CCDS3802.1 r.? - - Del intronic D 163075814 163075821 1 50 701.083 - - 6 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 9 4 9 6 20 17 20 17 9 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718359513 4 183613210 G GT 420 PASS ODZ3 CCDS47165.1 r.? - - Ins intronic I 183613210 183613217 1 18 373.292 - - 6 1 1 ODZ3|CCDS47165.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ODZ3|CCDS47165.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 2 10 6 22 14 22 14 10 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718365039 5 4475261 TC T 360 PASS - - - - - Del - D 4475261 4475264 1 16 321.943 - - 2 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 3 3 4 32 23 32 23 3 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718368495 5 14209028 T TAC 540 PASS TRIO CCDS3883.1 r.? - - Ins intronic I 14209028 14209030 2 30 474.786 - - 0 1 1 TRIO|CCDS3883.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRIO|CCDS3883.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 5 7 8 28 25 28 25 7 8 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718371678 5 22836795 C CA 329 PASS CDH12 CCDS3890.1 r.? - - Ins intronic I 22836795 22836805 1 15 320.137 - - 9 1 1 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 2 5 2 43 21 44 22 5 2 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718379924 5 45521336 CT C 360 PASS HCN1 CCDS3952.1 r.? - - Del intronic D 45521336 45521338 1 16 323.749 - - 1 1 1 HCN1|CCDS3952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HCN1|CCDS3952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 9 22 9 0 0 ./. 3 3 4 4 19 19 19 19 4 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718381611 5 53537999 GCA G 300 PASS - - - - - Del - D 53537999 53538018 2 12 268.587 - - 9 1 - - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 2 3 26 20 26 20 2 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718395205 5 98506301 TG T 540 PASS - - - - - Del - D 98506301 98506305 1 30 485.022 - - 3 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 4 5 4 8 13 22 13 22 4 8 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718396699 5 104118715 TA T 540 PASS ENSG00000232402 ENST00000438939 r.? - - Del intronic D 104118715 104118723 1 24 485.624 - - 7 1 1 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 7 2 13 4 33 12 33 12 13 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718399614 5 115190764 GTC G 660 PASS AP3S1 CCDS4123.1 r.? - - Del intronic D 115190764 115190770 2 36 593.54 - - 2 1 1 AP3S1|CCDS4123.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AP3S1|CCDS4123.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 8 3 10 9 28 18 28 18 10 9 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718404315 5 132503876 G GT 691 PASS - - - - - Ins - I 132503876 132503883 1 48 640.273 - - 6 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 5 7 9 7 13 20 13 21 9 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718406283 5 139890403 CGT C 269 PASS ANKHD1 CCDS4224.1 r.? - - Del intronic D 139890403 139890423 2 12 269.791 - - 9 1 - ANKHD1|CCDS4224.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKHD1|CCDS4224.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 3 2 3 17 19 17 19 2 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718415671 5 172749709 T TCA 660 PASS STC2 CCDS4388.1 r.? - - Ins intronic I 172749709 172749713 2 42 579.693 - - 1 1 1 STC2|CCDS4388.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STC2|CCDS4388.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 9 0 0 ./. 6 5 7 6 18 20 18 20 7 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718438971 6 47953002 G GA 360 PASS C6orf138 ENST00000398738 r.? - - Ins intronic I 47953002 47953011 1 12 318.708 - - 8 1 1 C6orf138|ENST00000398738|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C6orf138|ENST00000398738|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 5 1 5 1 32 23 32 23 5 1 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718439801 6 50529679 C CT 300 PASS - - - - - Ins - I 50529679 50529689 1 10 266.594 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 1 4 1 30 25 30 25 4 1 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718442107 6 56455415 G GA 300 PASS DST CCDS47441.1 r.? - - Ins intronic I 56455415 56455425 1 10 266.594 - - 9 1 1 DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 1 4 1 4 26 30 26 31 1 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718451226 6 85720099 TA T 780 PASS - - - - - Del - D 85720099 85720101 1 44 699.766 - - 1 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 10 8 13 18 20 18 20 8 13 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718451722 6 87382859 CT C 1020 PASS - - - - - Del - D 87382859 87382863 1 88 914.245 - - 3 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 10 7 14 12 23 20 23 20 14 12 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718456347 6 103009620 TG T 420 PASS - - - - - Del - D 103009620 103009630 1 18 377.446 - - 9 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 2 6 2 70 52 70 52 6 2 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718456909 6 104190779 CTA C 660 PASS - - - - - Del - D 104190779 104190782 2 42 593.129 - - 1 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 6 5 10 8 85 83 85 83 10 8 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718457410 6 105104906 C CA 540 PASS - - - - - Ins - I 105104906 105104915 1 24 478.665 - - 8 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 7 2 1 0 107 105 107 105 8 2 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718466629 6 136152467 C CA 900 PASS - - - - - Ins - I 136152467 136152474 1 60 799.781 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 11 4 11 5 23 16 23 16 11 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718475002 6 163950561 G GA 846 PASS QKI CCDS43525.1 r.? - - Ins intronic I 163950561 163950570 1 72 788.944 - - 8 1 1 QKI|CCDS43525.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 QKI|CCDS43525.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 13 12 0 0 ./. 8 7 12 11 32 21 32 21 12 11 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718477942 7 2518619 TCTC T 536 PASS ENSG00000230059 ENST00000432223 r.? - - Del intronic D 2518619 2518625 3 40 592.229 - - 1 1 1 ENSG00000230059|ENST00000432223|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000230059|ENST00000432223|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 4 7 6 9 19 13 19 13 6 9 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718479296 7 5679039 CT C 300 PASS RNF216 CCDS34595.1 r.? - - Del intronic D 5679039 5679049 1 6 268.538 - - 9 1 1 RNF216|CCDS34595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF216|CCDS34595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 0 5 0 5 24 19 24 19 0 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718483696 7 18002585 ATCCTGTTTTTTGAAGGGAAAAGACAACTGCGGGTGAGGGCGGAACACTTGAGCAGGGACAG A 290 PASS - - - - - Del - D 18002585 18002647 61 27 539.484 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 8 2 0 0 16 10 24 12 8 2 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718493722 7 48297530 A AT 660 PASS ABCA13 CCDS47584.1 r.? - - Ins intronic I 48297530 48297539 1 40 586.81 - - 8 1 1 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 7 4 15 5 46 22 46 22 15 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718500328 7 67218960 CCTTTCTTGCTTACAGGCTGGGG C 336 PASS - - - - - Del - D 67218960 67218984 22 49 645.575 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 6 6 6 6 19 18 19 18 6 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718505956 7 82623253 TA T 720 PASS PCLO CCDS47630.1 r.? - - Del intronic D 82623253 82623257 1 49 647.381 - - 3 1 1 PCLO|CCDS47630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCLO|CCDS47630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 6 7 9 23 21 23 21 7 9 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718515547 7 111560142 CAG C 600 PASS DOCK4 CCDS47688.1 r.? - - Del intronic D 111560142 111560149 2 32 539.484 - - 3 1 1 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 7 5 7 25 19 25 19 5 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718517751 7 120339170 TA T 906 PASS KCND2 CCDS5776.1 r.? - - Del intronic D 120339170 120339177 1 80 858.96 - - 6 1 1 KCND2|CCDS5776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCND2|CCDS5776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 9 8 10 20 31 20 31 8 10 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718525370 7 140795791 TAACGTAGGCA T 261 PASS - - - - - Del - D 140795791 140795803 10 28 485.536 - - 1 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 6 3 6 4 14 15 14 15 6 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718525693 7 141929748 TGAG T 269 PASS - - - - - Del - D 141929748 141929755 3 12 269.14 - - 2 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 2 3 4 3 21 13 21 13 4 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718525844 7 142394773 G GT 420 PASS - - - - - Ins - I 142394773 142394783 1 14 372.22 - - 9 1 1 - - ./. 0 0 0 0 9 13 10 13 0 0 ./. 1 6 2 7 22 34 22 34 2 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718528852 7 151232746 T TA 300 PASS - - - - - Ins - I 151232746 151232750 1 10 265.528 - - 3 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 1 4 1 7 21 42 21 42 1 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718529189 7 151987160 CA C 720 PASS BAGE3 CCDS5931.1 r.? - - Del intronic D 151987160 151987166 1 33 646.177 - - 5 1 - BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 2 10 2 17 7 49 7 49 2 17 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718529907 7 153496378 T TA 1049 PASS - - - - - Ins - I 153496378 153496379 1 99 960.235 - - 0 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 10 8 11 11 24 34 24 35 11 11 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718533862 8 4864133 TAGA T 538 PASS - - - - - Del - D 4864133 4864139 3 35 535.513 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 6 5 6 23 30 23 30 5 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718538217 8 15757698 AG A 300 PASS - - - - - Del - D 15757698 15757700 1 12 269.864 - - 1 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 2 3 28 24 28 24 2 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718543566 8 29342641 GT G 540 PASS - - - - - Del - D 29342641 29342645 1 28 485.755 - - 3 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 3 7 4 22 23 22 23 7 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718545933 8 35503893 A AG 480 PASS UNC5D CCDS6093.2 r.? - - Ins intronic I 35503893 35503894 1 25 426.965 - - 0 1 1 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 8 18 8 0 0 ./. 4 4 5 6 23 25 24 25 5 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718548904 8 48059405 GCTTCTGACCAAGGTCTAATAGC G 261 PASS - - - - - Del - D 48059405 48059429 22 24 479.734 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 7 2 4 25 22 25 25 2 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718549108 8 48785627 C CA 660 PASS PRKDC ENST00000314191 r.? - - Ins intronic I 48785627 48785634 1 42 587.077 - - 6 1 1 PRKDC|ENST00000314191|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKDC|ENST00000314191|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 6 11 7 34 27 34 27 11 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718557755 8 75745920 ACTCT A 269 PASS PI15 CCDS6218.1 r.? - - Del intronic D 75745920 75745928 4 12 269.864 - - 3 1 1 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 3 2 4 27 32 27 32 2 4 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718560200 8 84224624 TC T 809 PASS - - - - - Del - D 84224624 84224626 1 64 744.781 - - 1 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 7 7 9 10 21 34 21 34 9 10 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718560249 8 84372821 TC T 300 PASS - - - - - Del - D 84372821 84372829 1 12 260.833 - - 7 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 2 5 3 38 21 38 21 5 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718560456 8 85003741 CT C 480 PASS - - - - - Del - D 85003741 85003743 1 25 431.18 - - 1 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 4 4 7 7 26 28 26 28 7 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718561058 8 87437732 CT C 660 PASS WWP1 CCDS6242.1 r.? - - Del intronic D 87437732 87437734 1 42 593.7 - - 1 1 1 WWP1|CCDS6242.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWP1|CCDS6242.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 6 5 10 6 38 24 38 24 10 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718562324 8 91492797 TG T 360 PASS - - - - - Del - D 91492797 91492803 1 16 323.836 - - 5 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 6 3 31 40 31 40 6 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718570674 8 116572249 CTT C 1349 PASS TRPS1 CCDS6318.2 r.? - - Del intronic D 116572249 116572253 2 150 1240.17 - - 3 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 9 14 13 16 30 38 30 38 13 16 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718570704 8 116629870 ACT A 360 PASS TRPS1 CCDS6318.2 r.? - - Del intronic D 116629870 116629873 2 15 323.836 - - 1 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 4 2 6 3 34 34 34 34 6 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718577164 8 135531596 GT G 420 PASS ZFAT CCDS47924.1 r.? - - Del intronic D 135531596 135531600 1 20 377.809 - - 3 1 1 ZFAT|CCDS47924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFAT|CCDS47924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 4 6 8 25 25 25 25 6 8 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718584904 9 13781327 C CT 660 PASS - - - - - Ins - I 13781327 13781335 1 42 589.13 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 6 7 7 17 26 17 27 7 7 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718588150 9 24968744 AC A 960 PASS - - - - - Del - D 24968744 24968746 1 80 865.345 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 9 7 12 12 18 24 18 24 12 12 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718603658 9 96787733 G GT 416 PASS - - - - - Ins - I 96787733 96787740 1 27 534.368 - - 6 1 1 - - ./. 0 0 0 0 12 15 13 15 0 0 ./. 2 8 4 8 15 25 15 25 4 8 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718616603 9 139332444 G GA 807 PASS INPP5E CCDS7000.1 r.? - - Ins intronic I 139332444 139332452 1 70 789.511 - - 7 1 1 INPP5E|CCDS7000.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 INPP5E|CCDS7000.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 9 6 14 10 23 18 23 18 14 10 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718624742 X 35915235 CT C 989 PASS - - - - - Del - D 35915235 35915240 1 60 920.956 - - 4 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 14 3 20 5 27 19 27 19 20 5 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718626866 X 47252417 GGT G 689 PASS ZNF157 CCDS14278.1 r.? - - Del intronic D 47252417 47252421 2 45 642.862 - - 1 1 1 ZNF157|CCDS14278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF157|CCDS14278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 8 4 10 6 22 22 22 22 10 6 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718629064 X 62172801 G GT 360 PASS - - - - - Ins - I 62172801 62172811 1 16 321.431 - - 9 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 3 7 3 24 11 24 11 7 3 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718629389 X 65127181 AT A 660 PASS - - - - - Del - D 65127181 65127185 1 30 595.913 - - 3 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 2 9 5 14 14 17 14 17 5 14 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718630938 X 72950470 A AT 780 PASS - - - - - Ins - I 72950470 72950477 1 50 696.434 - - 6 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 9 6 14 16 23 16 23 6 14 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718635686 X 94904205 G GA 900 PASS - - - - - Ins - I 94904205 94904215 1 70 798.761 - - 9 1 1 - - ./. 0 0 0 0 13 8 14 9 0 0 ./. 6 9 9 10 21 27 21 27 9 10 1 1 1 1 1 1 1 1 2662690 PD14447a PD14447b 2718643915 X 135752630 A AG 720 PASS ARHGEF6 CCDS14660.1 r.? - - Ins intronic I 135752630 135752634 1 49 642.862 - - 3 1 1 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 6 6 9 7 17 13 17 13 9 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2668936728 1 21928431 GTCTTGTGGGC G 377 PASS RAP1GAP CCDS218.1 r.? - - Del intronic D 21928431 21928444 10 50 697.141 - - 1 1 1 RAP1GAP|CCDS218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAP1GAP|CCDS218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 4 7 4 0 0 ./. 4 9 4 9 13 23 13 24 4 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2668937646 1 24257937 T TC 720 PASS - - - - - Ins - I 24257937 24257939 1 45 637.355 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 8 4 12 5 12 9 12 9 12 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2668939228 1 30385511 ACATTT A 569 PASS - - - - - Del - D 30385511 30385518 5 35 537.651 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 6 5 8 8 12 8 12 5 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2668940548 1 35473125 GT G 600 PASS ZMYM6 CCDS387.2 r.? - - Del intronic D 35473125 35473128 1 32 535.845 - - 2 1 1 ZMYM6|CCDS387.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZMYM6|CCDS387.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 7 5 9 21 17 21 17 5 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2668953788 1 80081707 G GT 300 PASS - - - - - Ins - I 80081707 80081714 1 10 265.815 - - 6 1 1 - - ./. 0 0 0 0 19 16 20 16 0 0 ./. 4 1 6 6 21 19 21 19 6 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2668954046 1 80823628 TAC T 689 PASS - - - - - Del - D 80823628 80823632 2 45 645.182 - - 1 1 1 - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 4 8 5 9 17 21 17 21 5 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2668960810 1 100934838 A AG 600 PASS CDC14A CCDS769.1 r.? - - Ins intronic I 100934838 100934841 1 36 526.814 - - 2 1 1 CDC14A|CCDS769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDC14A|CCDS769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 5 9 7 20 24 20 25 9 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2668965164 1 114072582 C CT 660 PASS MAGI3 CCDS860.1 r.? - - Ins intronic I 114072582 114072588 1 40 584.794 - - 5 1 1 MAGI3|CCDS860.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAGI3|CCDS860.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 7 4 12 7 29 24 29 24 12 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2668975855 1 160557287 C CA 509 PASS - - - - - Ins - I 160557287 160557297 1 30 467.029 - - 9 1 - - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 4 10 8 28 26 28 27 10 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2668978093 1 167978812 TTC T 449 PASS DCAF6 CCDS1267.2 r.? - - Del intronic D 167978812 167978820 2 24 427.713 - - 3 1 1 DCAF6|CCDS1267.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCAF6|CCDS1267.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 3 7 6 18 24 18 24 7 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2668995642 1 220081514 CAGGAGTTCAAGACCATTGGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAACTTAGCCTGGCATGGTGGCCTGTCCCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAAGAGAATGGCTTGAACTTGGGAGGCGAAAGTTGCAGTGAGCCAAGATTGGGCCACTGCACTGCAGCCTGGGAACAGAGCCATATTTGATTGGCCAAAACTCGGTGACTGGCGCAAGTGTGGGCTACAATCTGGTTCCACTTCCACTAGCTATAGTTCATGATGTACAGGGAAACCTTTAGGCTGAAGTTAAATATGTAAGGAGGCAGCTTTAGGCTAAACTTGACTTAACAACAGTGAGTCCTTCTCTGATGGAGCTCAGCATCCTGGGCAGGACTGGAGATGCTAGTGGCTCAGTGCGTGTCAGGTGAAACGCTCTGTACAGAGCAACATAGAGCAGCTGAGGAAGATTTTTGGAGAAAATTGTCTTCTGAAAATATTCTATTCTTGGCATTTCCCCAATTTGCCCTCTCACACTCCTCCCACCAAAGCTTTAAGGGCAATTGCCTAAAGAATTAAAACTAAGCTCTCAATTCAGAAGGTCCTTTCCCCTCTTTCTCCACTCGCTGAACCACTCCAGGGCTGATTTCAAATGCCAGCTCTCCTGTGAAGCTGTCTTTGACTCTTCATTCTTTCTTCTTCACTTTCACCCTGTTGCTTATACTACCATTTAGTGCTGTTTAGCATTGATGTTTAATTAATTGACAAAATGGAGTTACCTAGATGGCAGGAGGCAGGATAAGAACAGGAAAAATATGAATGCCAGATTGAAAGTGTGAAAGAATAAGATCCATTGACATTTAAATCTGTTCTCATATGCATCATCTCCTTTAATTCCTACAACGCTGTGGT C 261 PASS - - - - - Del - D 220081514 220082426 908 30 483.886 - - 1 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 4 0 0 8 10 13 14 5 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669006723 1 248822424 T TA 478 PASS - - - - - Ins - I 248822424 248822426 1 42 584.794 - - 1 1 1 - - ./. 0 0 0 0 13 13 14 13 0 0 ./. 6 5 9 6 17 16 17 16 9 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669015807 10 22597241 T TA 480 PASS ENSG00000224369 ENST00000412505 r.? - - Ins intronic I 22597241 22597248 1 21 426.814 - - 6 1 1 ENSG00000224369|ENST00000412505|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000224369|ENST00000412505|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 2 6 5 6 28 16 28 16 5 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669016001 10 23333328 AAAGAATAGTTCAC A 377 PASS - - - - - Del - D 23333328 23333344 13 50 700.798 - - 1 1 1 - - ./. 0 0 0 0 20 9 20 9 0 0 ./. 9 4 8 1 28 13 29 16 9 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669021266 10 36568916 AT A 720 PASS - - - - - Del - D 36568916 36568922 1 48 645.64 - - 5 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 7 8 11 22 25 22 25 8 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669021593 10 37513530 GTGCCTTTGAAGCCCCCAAGACGGC G 377 PASS ANKRD30A CCDS7193.1 r.? - - Del intronic D 37513530 37513558 24 56 701.4 - - 1 1 1 ANKRD30A|CCDS7193.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD30A|CCDS7193.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 7 6 6 6 17 22 18 22 7 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669021649 10 37736581 CATCTT C 778 PASS - - - - - Del - D 37736581 37736589 5 60 754.752 - - 1 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 9 5 11 6 33 19 33 19 11 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669027589 10 56809186 G GA 540 PASS PCDH15 ENST00000373957 r.? - - Ins intronic I 56809186 56809195 1 28 478.36 - - 8 1 1 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 3 6 5 10 17 24 18 25 5 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669030056 10 63198444 TAAAC T 329 PASS TMEM26 CCDS41530.1 r.? - - Del intronic D 63198444 63198457 4 12 323.723 - - 3 1 1 TMEM26|CCDS41530.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM26|CCDS41530.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 1 5 1 15 12 15 12 5 1 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669032733 10 70508950 TAGATCCCCCATCCCGATTTTCAGGAAGAAATGAC T 319 PASS CCAR1 CCDS7282.1 r.1004_1037del34 c.885_918del34 p.D296fs*65 Del frameshift D 70508950 70508988 34 42 593.492 - - 1 1 1 CCAR1|CCDS7282.1|r.1004_1037del34|c.885_918del34|p.D296fs*65|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CCAR1|CCDS7282.1|r.1004_1037del34|c.885_918del34|p.D296fs*65|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 6 3 4 29 17 31 19 5 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669035070 10 77249041 T TG 329 PASS C10orf11 ENST00000354343 r.? - - Ins intronic I 77249041 77249043 1 15 320.111 - - 1 1 1 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 7 24 7 0 0 ./. 4 2 8 8 24 20 24 20 8 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669037394 10 85368193 CTTAA C 478 PASS - - - - - Del - D 85368193 85368200 4 28 485.585 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 6 3 6 19 15 19 15 3 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669046642 10 120253510 GGT G 960 PASS - - - - - Del - D 120253510 120253514 2 80 862.66 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 9 7 9 9 11 15 11 15 9 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669059145 11 23109727 G GA 1080 PASS - - - - - Ins - I 23109727 23109734 1 91 961.374 - - 6 1 1 - - ./. 0 0 0 0 16 19 16 20 0 0 ./. 12 6 15 8 29 19 29 19 15 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669061716 11 29926497 T TA 300 PASS - - - - - Ins - I 29926497 29926507 1 6 266.446 - - 9 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 0 5 8 7 23 17 23 18 8 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669064471 11 38733395 C CT 720 PASS - - - - - Ins - I 38733395 38733402 1 48 640.916 - - 6 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 7 6 10 15 33 15 33 6 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669064864 11 39603864 C CT 540 PASS - - - - - Ins - I 39603864 39603868 1 30 480.687 - - 3 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 4 10 9 20 19 20 19 10 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669072302 11 66448703 ATCC A 1049 PASS SPTBN2 CCDS8150.1 r.? - - Del downstream D 66448703 66448711 3 100 971.609 - - 2 1 1 SPTBN2|CCDS8150.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RBM4B|CCDS8149.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 9 10 9 0 0 ./. 9 9 13 10 23 24 23 24 13 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669074627 11 69709680 GTC G 540 PASS - - - - - Del - D 69709680 69709700 2 30 486.105 - - 9 1 - - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 4 5 8 7 196 169 196 169 8 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669075424 11 70547272 CGT C 420 PASS SHANK2 ENST00000338508 r.? - - Del intronic D 70547272 70547289 2 20 378.082 - - 8 1 - SHANK2|ENST00000338508|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHANK2|ENST00000338508|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 3 4 4 8 139 157 139 157 4 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669078313 11 76772773 A AT 360 PASS - - - - - Ins - I 76772773 76772775 1 15 306.009 - - 1 1 - - - ./. 0 0 0 0 12 6 13 6 0 0 ./. 2 4 8 12 141 195 144 197 8 12 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669083476 11 97183441 G GA 360 PASS - - - - - Ins - I 97183441 97183450 1 16 319.856 - - 8 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 3 4 4 6 9 6 9 4 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669108000 12 42785430 G GA 720 PASS PPHLN1 CCDS31777.1 r.? - - Ins intronic I 42785430 42785440 1 49 641.068 - - 9 1 1 PPHLN1|CCDS31777.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPHLN1|CCDS31777.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 6 6 10 8 26 29 27 30 10 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669115251 12 63574886 GT G 629 PASS - - - - - Del - D 63574886 63574891 1 42 593.666 - - 4 1 1 - - ./. 0 0 0 0 12 22 12 22 0 0 ./. 5 6 8 8 20 19 20 19 8 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669115874 12 65187941 A AT 660 PASS TBC1D30 ENST00000229088 r.? - - Ins intronic I 65187941 65187950 1 40 587.646 - - 8 1 1 TBC1D30|ENST00000229088|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TBC1D30|ENST00000229088|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 7 4 9 4 23 20 23 20 9 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669116908 12 68473961 AG A 540 PASS - - - - - Del - D 68473961 68473964 1 18 486.22 - - 2 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 8 1 10 3 16 14 16 14 10 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669122091 12 85098808 CA C 720 PASS - - - - - Del - D 85098808 85098813 1 48 646.487 - - 4 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 7 9 8 17 12 17 12 9 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669125880 12 96603750 AG A 780 PASS ELK3 CCDS9060.1 r.? - - Del intronic D 96603750 96603753 1 54 698.103 - - 2 1 1 ELK3|CCDS9060.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ELK3|CCDS9060.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 8 5 9 7 23 17 23 17 9 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669130811 12 110839313 AAGG A 389 PASS ANAPC7 CCDS9145.2 r.? - - Del intronic D 110839313 110839323 3 20 377.569 - - 3 1 1 ANAPC7|CCDS9145.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANAPC7|CCDS9145.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 3 4 5 6 11 21 11 21 5 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669138074 12 128793445 CATAG C 834 PASS - - - - - Del - D 128793445 128793451 4 90 918.415 - - 1 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 8 9 8 12 20 28 20 28 8 12 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669166161 14 21731027 T TA 660 PASS HNRNPC CCDS41915.1 r.? - - Ins intronic I 21731027 21731035 1 42 589.594 - - 7 1 1 HNRNPC|CCDS41915.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 HNRNPC|CCDS41915.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 6 5 16 12 32 38 32 38 16 12 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669172423 14 38517539 CA C 1080 PASS - - - - - Del - D 38517539 38517546 1 91 975.626 - - 6 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 12 6 13 7 27 18 27 18 13 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669190411 14 90479022 AC A 569 PASS TDP1 CCDS9888.1 r.? - - Del intronic D 90479022 90479028 1 27 542.015 - - 5 1 1 TDP1|CCDS9888.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TDP1|CCDS9888.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 8 2 9 5 28 15 28 15 9 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669190620 14 90882735 T TA 507 PASS - - - - - Ins - I 90882735 90882744 1 32 530.576 - - 8 1 1 - - ./. 0 0 0 0 12 16 13 16 0 0 ./. 3 7 4 8 23 19 24 19 4 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669193221 14 98217247 G GC 600 PASS - - - - - Ins - I 98217247 98217249 1 27 535.994 - - 1 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 8 2 9 6 27 17 28 17 9 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669198393 15 23840566 ATCT A 958 PASS - - - - - Del - D 23840566 23840575 3 84 922.017 - - 2 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 6 11 8 13 28 34 28 34 8 13 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669210396 15 58254902 C CA 780 PASS ALDH1A2 CCDS10163.1 r.? - - Ins intronic I 58254902 58254912 1 56 697.245 - - 9 1 1 ALDH1A2|CCDS10163.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ALDH1A2|CCDS10163.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 7 6 8 8 26 25 27 25 8 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669228677 16 7066716 C CT 540 PASS - - - - - Ins - I 7066716 7066723 1 30 482.746 - - 6 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 5 4 8 9 21 18 21 19 8 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669238397 16 32095639 T TC 271 PASS - - - - - Ins - I 32095639 32095642 1 20 375.469 - - 2 1 1 - - ./. 0 0 0 0 15 23 15 23 0 0 ./. 3 4 4 4 21 39 21 39 4 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669244135 16 59148267 GAACA GTT 658 PASS - - - - - Complex - DI 59148268 59148271 4 40 0 - - 0 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 9 0 0 9 12 9 12 3 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669246128 16 68857486 TCCTGC T 679 PASS CDH1 CCDS10869.1 r.2313_2317delCCUGC c.2122_2126delCCTGC p.P708fs*38 Del frameshift D 68857486 68857493 5 88 921.487 - - 1 1 1 CDH1|CCDS10869.1|r.2313_2317delCCUGC|c.2122_2126delCCTGC|p.P708fs*38|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CDH1|CCDS10869.1|r.2313_2317delCCUGC|c.2122_2126delCCTGC|p.P708fs*38|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 16 13 16 13 0 0 ./. 7 10 7 11 10 14 10 15 7 12 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669246717 16 71064285 C CAT 420 PASS HYDIN2 CCDS42189.1 r.? - - Ins intronic I 71064285 71064294 2 20 371.255 - - 4 1 - HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 33 28 35 0 0 ./. 4 3 8 6 37 36 41 40 8 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669248225 16 76826443 A AT 360 PASS - - - - - Ins - I 76826443 76826451 1 16 321.831 - - 7 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 4 4 9 5 9 5 4 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669263539 17 29207741 ATG A 660 PASS ATAD5 CCDS11260.1 r.? - - Del intronic D 29207741 29207747 2 40 596.011 - - 2 1 1 ATAD5|CCDS11260.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATAD5|CCDS11260.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 7 4 12 8 29 24 29 24 12 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669265340 17 34966198 CTGGATTGT C 319 PASS MRM1 CCDS32631.1 r.? - - Del downstream D 34966198 34966210 8 40 595.409 - - 1 1 1 MRM1|CCDS32631.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MRM1|CCDS32631.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 7 0 0 17 18 17 19 4 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669267044 17 38872757 T TA 840 PASS - - - - - Ins - I 38872757 38872767 1 63 750.131 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 8 6 10 10 17 26 17 26 10 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669267288 17 39682630 A ACG 300 PASS KRT15 CCDS11398.1 r.? - - Ins upstream I 39682630 39682634 2 10 264.292 - - 1 1 1 KRT15|CCDS11398.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 KRT19|CCDS11399.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 16 8 16 0 0 ./. 4 1 6 5 13 15 13 15 6 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669267657 17 40543896 TACTGTAGT TCATAG 493 PASS STAT3 CCDS32657.1 r.? - - Complex upstream DI 40543897 40543904 8 78 0 - - 0 1 1 STAT3|CCDS32657.1|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 STAT3|CCDS32657.1|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 ./. 0 0 0 0 10 13 10 13 0 0 ./. 12 5 0 0 25 12 25 12 12 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669268040 17 41323824 C CCA 300 PASS NBR1 CCDS45694.1 r.? - - Ins intronic I 41323824 41323830 2 12 264.894 - - 2 1 1 NBR1|CCDS45694.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NBR1|CCDS45694.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 15 11 0 0 ./. 3 2 6 6 14 16 15 16 6 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669274078 17 57142132 TGTG T 449 PASS TRIM37 CCDS32694.1 r.? - - Del intronic D 57142132 57142142 3 24 433.463 - - 3 1 1 TRIM37|CCDS32694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIM37|CCDS32694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 5 6 10 22 19 23 19 7 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669277185 17 65358364 CTTAATTT C 334 PASS PSMD12 CCDS11669.1 r.? - - Del intronic D 65358364 65358376 7 49 650.194 - - 1 1 1 PSMD12|CCDS11669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSMD12|CCDS11669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 6 6 5 7 12 15 13 15 6 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669280054 17 72425371 CT C 720 PASS GPRC5C CCDS11699.1 r.? - - Del upstream D 72425371 72425381 1 48 650.194 - - 9 1 1 GPRC5C|CCDS11699.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 GPRC5C|CCDS11699.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 17 14 17 0 0 ./. 5 7 8 9 18 31 18 31 8 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669288236 18 10522144 G GA 300 PASS NAPG CCDS45827.1 r.? - - Ins upstream I 10522144 10522154 1 12 263.942 - - 9 1 1 NAPG|CCDS45827.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 NAPG|CCDS45827.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 11 19 11 19 0 0 ./. 2 3 2 3 30 27 30 28 2 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669293722 18 27881109 G GA 360 PASS - - - - - Ins - I 27881109 27881116 1 15 321.185 - - 6 1 1 - - ./. 0 0 0 0 20 11 20 12 0 0 ./. 2 4 8 7 24 24 24 24 8 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669300441 18 50298209 GGT G 480 PASS DCC CCDS11952.1 r.? - - Del intronic D 50298209 50298216 2 21 430.856 - - 3 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 6 2 10 7 22 19 22 19 10 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669310594 19 884960 A ACCAGCACT 870 PASS MED16 CCDS12047.1 r.1078_1079insagugcugg c.927_928insAGTGCTGG p.L311fs*11 Ins frameshift I 884960 884972 8 252 1471.25 - - 1 1 1 MED16|CCDS12047.1|r.1078_1079insagugcugg|c.927_928insAGTGCTGG|p.L311fs*11|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 MED16|CCDS12047.1|r.1078_1079insagugcugg|c.927_928insAGTGCTGG|p.L311fs*11|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 9 8 9 8 0 0 ./. 13 17 11 17 24 25 28 27 14 18 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669315480 19 9209497 C CA 449 PASS OR7G2 CCDS32897.1 r.? - - Ins downstream I 9209497 9209507 1 25 428.457 - - 9 1 1 OR7G2|CCDS32897.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 OR7G2|CCDS32897.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 16 7 16 0 0 ./. 4 4 7 7 26 38 26 39 7 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669320134 19 16854908 AGTAAATTGTGGCTGGGGACAGTGGCTCACGACAGTAATCCCAGCACTTTGTGAGGCTGAGATGAGAGGATCCCTTGAGTACAGGAGTTCAATACCAGCCCGGGTAATGTAGTGAGACCCTATCTGTACCGAAAATAAAAACTTAAAAATTAGCTGGGTATGGTGGCATGTGATTGTGGTCCAAGTGGGAGGATCACTTAAACCCAGGAGGTTGAGGCTGCAGTGAGCCATGGTTGTACCACCGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTCTGAAGAAAAAAAGTGAGATTTGAATCTGTGACTTCCTCTCTGCCAGGCCCTCATCGGTGATCAGTACGGCCCCTGTCTGATTCCCTCGCGGATCGATGAGAAGGAGTGGGAGGTATTGAGGGACCATCTGACTGCCAGGCCAAGTGACCTGGAGCTGGTGGCACGATACTTCCAGAGGGACGAGAATGCGTTTCCTCCCACCTACGTCCTGCAGGCACCAGGTACTGGGGAGGCCTGTGAACCAGAGGAGGCCACCTTAACTTCTGTCCTACGCTCTGGAGCCCAGGAGGCCCGGAGGCTGGGGCTCATCACCCAGGAGCAGTGGCAGCACTACCACCGGTCAGGTGAGGCCGCAGGGACTCCCCTCTGGAGACCCACAAGAAACTGACCACGTGTTCAGAATATCCATCCCCTGTTGGCAAAAATGCAACAGTCTGCATTTCTTGCAAATGCCAAACCAGTCAACCTCTGGTCCCTCGGCTCTGAGAAAGGCTGTTTTACTGATCCAAGATAGTTCAGCCATGTTCCTGATCAATCTTGGTCTCAGGATCTTCCTCTCCTCGCTGGCTCTTTCTTCTTGTCTCCCAGGGAGGTTCCTGGCACAGGGGCCGTATTAGTCTGTTCTCATGCCACTAATAAAGGCATACTT A 537 PASS NWD1 CCDS32945.1 r.840-323_1442del926 c.? p.? Del 5'UTR ess splice D 16854908 16855836 926 110 1027.82 - - 1 1 1 NWD1|CCDS32945.1|r.840-323_1442del926|c.?|p.?|protein_coding:five_prime_UTR:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:5_prime_UTR_variant:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000204:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001623:SO:0001577:SO:0001576 NWD1|ENST00000438489|r.207-323_504+305del926|c.199-323_496+305del926|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 9 7 9 7 0 0 ./. 10 9 0 0 13 5 23 14 10 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669328120 19 35482164 A AC 600 PASS - - - - - Ins - I 35482164 35482166 1 35 534.367 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 6 7 10 31 29 32 29 7 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669346639 2 18211035 A AT 809 PASS - - - - - Ins - I 18211035 18211043 1 63 741.517 - - 7 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 8 6 9 10 30 24 30 24 9 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669348389 2 24201181 ACT A 833 PASS UBXN2A CCDS1704.1 r.? - - Del intronic D 24201181 24201186 2 60 805.534 - - 2 1 1 UBXN2A|CCDS1704.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBXN2A|CCDS1704.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 11 4 15 6 33 17 33 17 15 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669348415 2 24234018 GCCCGGAGCCGCCCCT G 327 PASS MFSD2B CCDS46228.1 r.? - - Del intronic D 24234018 24234037 15 42 591.608 - - 1 1 1 MFSD2B|CCDS46228.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MFSD2B|CCDS46228.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 6 5 5 5 19 13 20 13 6 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669359435 2 55291675 TGG T 776 PASS RTN4 ENST00000427710 r.? - - Del intronic D 55291675 55291680 2 70 805.534 - - 4 1 1 RTN4|ENST00000427710|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RTN4|ENST00000427710|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 9 6 12 7 28 21 28 21 12 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669363075 2 66376529 A AT 660 PASS - - - - - Ins - I 66376529 66376538 1 42 584.985 - - 8 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 6 5 7 8 22 22 22 22 7 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669367525 2 80219424 CA C 360 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 80219424 80219434 1 15 320.287 - - 9 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 4 2 11 6 29 20 29 20 11 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669367544 2 80285194 G GT 780 PASS CTNNA2 CCDS42703.2 r.? - - Ins intronic I 80285194 80285196 1 56 691.347 - - 1 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 7 7 7 21 13 21 13 7 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669374229 2 104887753 GATCC G 300 PASS - - - - - Del - D 104887753 104887759 4 10 268.913 - - 1 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 1 4 2 4 19 12 19 12 2 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669374763 2 106533624 GA G 720 PASS - - - - - Del - D 106533624 106533629 1 45 645.391 - - 4 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 8 5 10 17 22 17 22 5 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669378823 2 119871425 TCACTTCTTTTACC T 319 PASS - - - - - Del - D 119871425 119871443 13 42 587.996 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 6 5 7 18 14 18 15 5 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669383752 2 133719002 T TA 478 PASS NCKAP5 CCDS46418.1 r.? - - Ins intronic I 133719002 133719005 1 24 477.42 - - 2 1 1 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 2 7 4 9 17 16 17 17 4 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669387388 2 145074188 AAT A 780 PASS GTDC1 ENST00000417450 r.? - - Del intronic D 145074188 145074192 2 54 699.173 - - 1 1 1 GTDC1|ENST00000417450|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GTDC1|ENST00000417450|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 8 5 12 8 35 28 35 28 12 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669392266 2 160447795 CT C 660 PASS BAZ2B CCDS2209.2 r.? - - Del intronic D 160447795 160447803 1 42 591.608 - - 7 1 1 BAZ2B|CCDS2209.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BAZ2B|CCDS2209.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 6 7 6 25 22 25 22 7 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669402634 2 191752152 GT G 929 PASS GLS CCDS2308.1 r.? - - Del intronic D 191752152 191752156 1 80 860.521 - - 3 1 1 GLS|CCDS2308.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLS|CCDS2308.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 9 7 13 12 27 25 27 25 13 12 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669407597 2 206110927 A AT 360 PASS PARD3B CCDS42806.1 r.? - - Ins intronic I 206110927 206110935 1 16 319.083 - - 7 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 14 19 14 0 0 ./. 3 3 7 5 21 20 21 20 7 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669410580 2 214962418 T TA 720 PASS SPAG16 CCDS2396.1 r.? - - Ins intronic I 214962418 214962424 1 48 638.166 - - 5 1 1 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 7 6 11 15 23 16 23 6 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669412188 2 219404743 CT C 420 PASS USP37 CCDS2418.1 r.? - - Del intronic D 219404743 219404753 1 20 372.866 - - 9 1 1 USP37|CCDS2418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP37|CCDS2418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 3 7 6 21 22 21 22 7 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669415987 2 229589108 A AT 720 PASS - - - - - Ins - I 229589108 229589116 1 40 638.166 - - 7 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 3 9 4 11 17 23 18 23 4 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669419570 2 239989657 CT C 720 PASS HDAC4 CCDS2529.1 r.? - - Del intronic D 239989657 239989660 1 40 645.391 - - 2 1 1 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HDAC4|CCDS2529.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 9 3 10 13 17 13 17 3 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669425892 20 15097642 A AT 689 PASS MACROD2 CCDS13120.2 r.? - - Ins intronic I 15097642 15097651 1 49 645.082 - - 8 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 6 12 8 26 21 26 21 12 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669432833 20 34845156 CTG C 960 PASS C20orf4 CCDS13273.1 r.? - - Del downstream D 34845156 34845160 2 80 867.936 - - 1 1 1 C20orf4|CCDS13273.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 C20orf4|ENST00000397286|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 7 9 11 11 23 23 23 23 11 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669435330 20 43528864 T TG 420 PASS YWHAB CCDS13339.1 r.? - - Ins intronic I 43528864 43528865 1 14 376.298 - - 0 1 1 YWHAB|CCDS13339.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 YWHAB|CCDS13339.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 18 6 18 0 0 ./. 1 6 2 12 8 30 9 30 2 12 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669449121 21 23734594 G GA 360 PASS - - - - - Ins - I 23734594 23734603 1 12 322.801 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 5 1 9 4 33 28 33 28 9 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669462622 22 24413426 TTGTTTTTCTG T 472 PASS CABIN1 CCDS13823.1 r.? - - Del intronic D 24413426 24413438 10 65 869.013 - - 1 1 1 CABIN1|CCDS13823.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CABIN1|CCDS13823.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 25 12 25 0 0 ./. 4 12 4 11 11 31 11 32 4 12 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669479570 3 20072918 T TTTTC 265 PASS - - - - - Ins - I 20072918 20072922 4 14 357.881 - - 0 1 1 - - ./. 0 0 0 0 10 23 10 24 0 0 ./. 6 1 0 1 30 19 30 19 6 2 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669483236 3 31511353 C CA 1080 PASS - - - - - Ins - I 31511353 31511359 1 96 957.766 - - 5 1 1 - - ./. 0 0 0 0 17 14 18 14 0 0 ./. 7 11 7 13 23 23 23 23 7 13 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669483649 3 32542055 TATTTTTTCTCCATTTCTTCTTATGAATGATGGAGAACTAATAATAGTCTAACG T 261 PASS CMTM6 CCDS2653.1 r.? - - Del intronic D 32542055 32542111 53 30 484.904 - - 1 1 1 CMTM6|CCDS2653.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CMTM6|CCDS2653.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 4 5 1 1 16 11 19 15 4 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669484739 3 36140693 CT C 485 PASS - - - - - Del - D 36140693 36140702 1 24 484.904 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 7 5 11 23 21 23 21 5 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669493395 3 61818357 C CT 720 PASS PTPRG CCDS2895.1 r.? - - Ins intronic I 61818357 61818364 1 45 639.314 - - 6 1 1 PTPRG|CCDS2895.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRG|CCDS2895.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 21 17 21 0 0 ./. 4 8 8 13 24 39 24 39 8 13 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669494010 3 63668566 T TG 480 PASS SNTN ENST00000496807 r.? - - Ins downstream I 63668566 63668572 1 25 426.209 - - 5 1 1 SNTN|ENST00000496807|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SNTN|ENST00000496807|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 9 7 10 0 0 ./. 4 4 5 5 13 12 13 12 5 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669496670 3 72160285 G GT 1080 PASS - - - - - Ins - I 72160285 72160292 1 99 955.96 - - 6 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 10 8 15 10 35 20 35 20 15 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669506966 3 104923353 AC A 960 PASS - - - - - Del - D 104923353 104923356 1 77 862.051 - - 2 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 10 6 16 9 23 23 23 23 16 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669514077 3 126093808 GGGTTTTGAGCAGAGAGATGACGT G 377 PASS - - - - - Del - D 126093808 126093835 23 54 695.6 - - 1 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 8 5 8 17 21 17 22 5 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669520274 3 145558393 TGACTCACAGTTCTGCATAACTGAGGA T 290 PASS - - - - - Del - D 145558393 145558423 26 35 538.782 - - 1 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 6 3 6 16 19 17 19 4 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669537699 3 196828295 CGCCCA C 300 PASS DLG1 CCDS3327.1 r.? - - Del intronic D 196828295 196828302 5 30 484.904 - - 1 1 1 DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 4 11 5 29 16 29 16 11 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669538672 4 1898391 G GCCTC 300 PASS WHSC1 CCDS3356.1 r.? - - Ins upstream I 1898391 1898411 4 10 255.486 - - 4 1 - WHSC1|CCDS3356.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 WHSC1|CCDS33940.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 1 4 4 8 25 23 25 23 4 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669542971 4 14674853 G GTA 689 PASS - - - - - Ins - I 14674853 14674857 2 48 631.349 - - 1 1 1 - - ./. 0 0 0 0 17 9 17 10 0 0 ./. 5 7 6 9 26 20 26 20 6 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669543264 4 15812272 AAAACCAGGTTGATAATGGTTTCCTGGC A 319 PASS CD38 CCDS3417.1 r.? - - Del intronic D 15812272 15812301 27 40 592.534 - - 1 1 1 CD38|CCDS3417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD38|CCDS3417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 7 5 5 25 16 25 18 5 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669549603 4 39758322 T TA 480 PASS UBE2K CCDS33976.1 r.? - - Ins intronic I 39758322 39758325 1 24 426.118 - - 2 1 1 UBE2K|CCDS33976.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UBE2K|CCDS33976.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 3 16 3 0 0 ./. 3 5 4 5 21 16 21 16 4 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669551718 4 45345559 T TA 840 PASS - - - - - Ins - I 45345559 45345566 1 55 745.706 - - 6 1 1 - - ./. 0 0 0 0 17 12 19 12 0 0 ./. 4 10 6 11 18 22 18 22 6 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669555950 4 58370220 CCTGT C 569 PASS - - - - - Del - D 58370220 58370227 4 32 538.667 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 7 4 10 25 21 25 21 4 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669563653 4 80832951 C CT 720 PASS ANTXR2 CCDS47085.1 r.? - - Ins intronic I 80832951 80832958 1 48 639.176 - - 6 1 1 ANTXR2|CCDS47085.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANTXR2|CCDS47085.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 15 10 0 0 ./. 7 5 11 6 31 29 31 29 11 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669570623 4 102656326 G GA 300 PASS BANK1 ENST00000504592 r.? - - Ins intronic I 102656326 102656336 1 10 266.323 - - 9 1 1 BANK1|ENST00000504592|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BANK1|ENST00000504592|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 24 28 24 0 0 ./. 4 1 4 1 17 27 17 27 4 1 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669571359 4 105769455 AG A 809 PASS - - - - - Del - D 105769455 105769460 1 63 754.135 - - 4 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 6 8 8 9 22 24 22 24 8 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669575977 4 120004369 CT C 540 PASS - - - - - Del - D 120004369 120004373 1 30 484.801 - - 3 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 4 5 5 8 20 18 20 18 5 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669578560 4 127861432 GGC G 1440 PASS - - - - - Del - D 127861432 127861441 2 169 1292.2 - - 4 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 12 12 14 14 26 30 26 30 14 14 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669585320 4 148974029 A AG 718 PASS ARHGAP10 CCDS34075.1 r.? - - Ins intronic I 148974029 148974032 1 56 692.441 - - 2 1 1 ARHGAP10|CCDS34075.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP10|CCDS34075.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 17 13 0 0 ./. 6 7 7 9 20 22 20 22 7 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669585498 4 149534747 C CTA 360 PASS - - - - - Ins - I 149534747 149534765 2 15 311.159 - - 8 1 1 - - ./. 0 0 0 0 21 14 22 14 0 0 ./. 2 4 2 4 17 24 17 24 2 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669589485 4 161703414 CAGAAT C 927 PASS - - - - - Del - D 161703414 161703421 5 90 915.735 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 8 9 8 11 15 26 15 26 8 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669596100 4 180194125 TGA T 480 PASS - - - - - Del - D 180194125 180194131 2 21 430.934 - - 2 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 6 2 10 5 17 14 17 14 10 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669596443 4 181051503 G GA 807 PASS - - - - - Ins - I 181051503 181051510 1 72 798.97 - - 6 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 8 7 12 11 28 24 28 24 12 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669602882 5 3139434 CAT C 300 PASS - - - - - Del - D 3139434 3139440 2 10 262.555 - - 2 1 - - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 1 4 1 5 23 30 23 30 1 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669603118 5 3553257 A AT 360 PASS ENSG00000224512 ENST00000432338 r.? - - Ins intronic I 3553257 3553258 1 16 319.401 - - 0 1 1 ENSG00000224512|ENST00000432338|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000224512|ENST00000432338|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 3 4 3 32 38 32 40 4 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669605655 5 10268314 C CA 749 PASS CCT5 CCDS3877.1 r.? - - Ins downstream I 10268314 10268323 1 54 691.433 - - 8 1 1 CCT5|CCDS3877.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CCT5|CCDS3877.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 8 8 8 0 0 ./. 5 8 6 11 40 50 40 50 6 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669612505 5 26795269 AT A 780 PASS - - - - - Del - D 26795269 26795271 1 56 699.862 - - 1 1 1 - - ./. 0 0 0 0 18 22 18 22 0 0 ./. 6 7 8 8 24 32 24 32 8 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669612515 5 26829646 C CA 420 PASS - - - - - Ins - I 26829646 26829653 1 18 371.43 - - 6 1 1 - - ./. 0 0 0 0 21 12 22 12 0 0 ./. 2 5 2 6 32 30 32 30 2 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669612888 5 27780312 T TA 1140 PASS - - - - - Ins - I 27780312 27780318 1 110 1010.83 - - 5 1 1 - - ./. 0 0 0 0 14 13 14 14 0 0 ./. 10 9 14 13 36 38 36 38 14 13 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669613777 5 29768201 G GT 509 PASS - - - - - Ins - I 29768201 29768208 1 30 479.102 - - 6 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 5 4 6 8 35 32 36 32 6 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669613804 5 29814951 AG A 780 PASS - - - - - Del - D 29814951 29814954 1 50 699.26 - - 2 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 9 6 12 17 31 17 31 6 12 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669615529 5 33480811 AAG A 629 PASS - - - - - Del - D 33480811 33480816 2 22 589.181 - - 2 1 1 - - ./. 0 0 0 0 6 19 6 19 0 0 ./. 1 10 2 13 10 38 10 38 2 13 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669618903 5 42310096 G GA 300 PASS - - - - - Ins - I 42310096 42310106 1 10 266.168 - - 9 1 - - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 1 4 1 36 31 37 32 4 1 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669622889 5 56029826 C CA 420 PASS - - - - - Ins - I 56029826 56029828 1 20 372.635 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 3 6 6 26 17 26 18 6 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669624956 5 61739463 G GA 269 PASS IPO11 CCDS34167.1 r.? - - Ins intronic I 61739463 61739473 1 12 255.932 - - 9 1 1 IPO11|CCDS34167.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IPO11|CCDS34167.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 2 3 0 1 40 28 40 29 2 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669628304 5 71143142 GA G 300 PASS - - - - - Del - D 71143142 71143145 1 12 266.77 - - 2 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 3 2 3 43 35 43 35 2 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669633959 5 84621172 TA T 329 PASS - - - - - Del - D 84621172 84621176 1 12 323.013 - - 3 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 1 5 2 8 20 33 20 33 2 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669636414 5 91864243 AT A 480 PASS - - - - - Del - D 91864243 91864250 1 16 430.685 - - 6 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 1 7 5 13 20 43 20 43 5 13 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669637991 5 96828095 AAT A 300 PASS - - - - - Del - D 96828095 96828112 2 12 269.178 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 3 2 32 31 32 31 3 2 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669640292 5 103613109 T TA 689 PASS - - - - - Ins - I 103613109 103613117 1 48 638.2 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 15 0 0 ./. 5 7 10 15 39 33 39 35 10 15 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669640639 5 104453166 G GC 660 PASS - - - - - Ins - I 104453166 104453168 1 42 585.568 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 20 0 0 ./. 6 5 13 10 27 20 27 20 13 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669645374 5 116898453 G GA 540 PASS - - - - - Ins - I 116898453 116898463 1 28 479.102 - - 9 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 6 3 7 7 39 28 39 28 7 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669645599 5 117461789 AAAG A 538 PASS - - - - - Del - D 117461789 117461797 3 36 535.947 - - 2 1 1 - - ./. 0 0 0 0 17 26 17 26 0 0 ./. 5 5 6 9 30 30 30 30 6 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669648578 5 125994761 T TA 300 PASS - - - - - Ins - I 125994761 125994768 1 12 265.565 - - 6 1 1 - - ./. 0 0 0 0 14 21 15 21 0 0 ./. 2 3 2 4 33 48 34 48 2 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669649916 5 130221305 G GT 300 PASS - - - - - Ins - I 130221305 130221315 1 12 266.168 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 3 2 26 39 27 39 3 2 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669649961 5 130376223 TG T 869 PASS - - - - - Del - D 130376223 130376225 1 66 804.523 - - 1 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 10 9 15 34 33 34 33 9 14 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669649976 5 130438764 G GTA 360 PASS - - - - - Ins - I 130438764 130438778 2 15 313.38 - - 6 1 - - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 2 4 8 12 28 31 28 31 8 12 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669656499 5 147532168 ATG A 300 PASS - - - - - Del - D 147532168 147532186 2 12 269.178 - - 8 1 - - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 3 2 3 21 29 21 29 2 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669665398 5 171182296 C CT 360 PASS - - - - - Ins - I 171182296 171182305 1 15 318.799 - - 8 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 2 4 6 6 27 33 28 33 6 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669665494 5 171427062 CA C 480 PASS FBXW11 CCDS34289.1 r.? - - Del intronic D 171427062 171427066 1 21 430.685 - - 3 1 1 FBXW11|CCDS34289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXW11|CCDS34289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 6 2 10 4 33 27 33 27 10 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669666191 5 172668690 T TA 720 PASS - - - - - Ins - I 172668690 172668698 1 45 636.394 - - 7 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 8 8 10 36 33 38 33 8 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669670621 6 2200224 A AG 1038 PASS GMDS CCDS4474.1 r.? - - Ins intronic I 2200224 2200227 1 99 958.443 - - 2 1 1 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 10 8 12 11 25 26 25 26 12 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669672140 6 6379824 AT A 480 PASS - - - - - Del - D 6379824 6379830 1 25 431.326 - - 5 1 1 - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 4 4 7 5 18 20 18 20 7 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669672783 6 7631675 CTGGGT C 1047 PASS - - - - - Del - D 7631675 7631681 5 104 1019.58 - - 1 1 1 - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 12 7 13 7 24 19 24 19 13 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669673046 6 8281559 CCA C 360 PASS - - - - - Del - D 8281559 8281562 2 12 312.658 - - 1 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 1 4 2 19 7 19 7 5 2 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669674333 6 11336963 ACTT A 604 PASS NEDD9 ENST00000504387 r.? - - Del intronic D 11336963 11336972 3 45 646.989 - - 2 1 1 NEDD9|ENST00000504387|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NEDD9|ENST00000504387|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 8 4 10 6 21 18 21 18 10 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669702177 6 88918560 CG C 780 PASS - - - - - Del - D 88918560 88918564 1 54 700.303 - - 3 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 8 5 11 11 24 22 24 22 11 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669724803 6 159229307 T TA 840 PASS EZR CCDS5258.1 r.? - - Ins intronic I 159229307 159229310 1 63 746.392 - - 2 1 1 EZR|CCDS5258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EZR|CCDS5258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 13 13 0 0 ./. 6 8 8 9 24 23 25 23 8 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669728384 6 169648270 TTG T 300 PASS THBS2 CCDS34574.1 r.? - - Del intronic D 169648270 169648285 2 12 267.773 - - 7 1 - THBS2|CCDS34574.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THBS2|CCDS34574.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 2 3 2 19 26 19 26 3 2 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669730626 7 5230204 TCGG T 564 PASS WIPI2 CCDS5339.1 r.? - - Del intronic D 5230204 5230213 3 36 539.416 - - 2 1 1 WIPI2|CCDS5339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WIPI2|CCDS5339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 5 9 6 22 16 22 16 9 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669742102 7 37891630 C CA 480 PASS TXNDC3 CCDS5452.1 r.? - - Ins intronic I 37891630 37891632 1 25 426.717 - - 1 1 1 TXNDC3|CCDS5452.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TXNDC3|CCDS5452.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 4 6 7 19 21 20 21 6 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669743989 7 43164428 AT A 840 PASS HECW1 CCDS5469.2 r.? - - Del intronic D 43164428 43164437 1 48 755.183 - - 8 1 1 HECW1|CCDS5469.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HECW1|CCDS5469.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 16 28 16 0 0 ./. 11 3 12 4 24 17 24 17 12 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669745594 7 47953883 C CA 660 PASS PKD1L1 CCDS34633.1 r.? - - Ins intronic I 47953883 47953887 1 42 586.735 - - 3 1 1 PKD1L1|CCDS34633.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PKD1L1|CCDS34633.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 6 5 10 17 28 17 28 5 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669753213 7 68332617 G GA 689 PASS - - - - - Ins - I 68332617 68332627 1 45 629.238 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 8 4 10 8 24 27 24 27 10 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669754169 7 70595581 TATA T 478 PASS WBSCR17 CCDS5540.1 r.? - - Del upstream D 70595581 70595589 3 28 485.475 - - 2 1 1 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 6 7 6 16 20 16 20 7 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669767500 7 109412055 GT G 937 PASS - - - - - Del - D 109412055 109412065 1 81 863.066 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 8 8 10 9 23 20 23 20 10 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669768080 7 111602916 TA T 523 PASS DOCK4 CCDS47688.1 r.? - - Del intronic D 111602916 111602919 1 42 593.358 - - 2 1 1 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 5 7 6 19 19 19 19 7 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669773753 7 130080615 C CA 300 PASS TSGA14 CCDS5821.1 r.? - - Ins intronic I 130080615 130080618 1 10 264.892 - - 2 1 1 TSGA14|CCDS5821.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TSGA14|ENST00000469826|r.74_75insu|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 14 5 14 5 0 0 ./. 4 1 7 10 17 20 17 20 7 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669787228 8 10384194 TG T 780 PASS ENSG00000184647 CCDS5976.1 r.? - - Del intronic D 10384194 10384200 1 56 699.281 - - 5 1 1 ENSG00000184647|CCDS5976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000184647|CCDS5976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 7 6 9 7 10 13 10 13 9 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669793266 8 29057111 AAG A 360 PASS KIF13B ENST00000357808 r.? - - Del intronic D 29057111 29057115 2 7 311.306 - - 1 1 - KIF13B|ENST00000357808|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF13B|ENST00000357808|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 6 0 2 0 13 9 13 9 7 0 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669794684 8 34551200 TC T 300 PASS - - - - - Del - D 34551200 34551202 1 12 268.954 - - 1 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 2 9 4 106 127 106 127 9 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669796455 8 37780392 TTC T 300 PASS - - - - - Del - D 37780392 37780411 2 12 267.148 - - 9 1 - - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 6 101 104 101 104 3 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669798198 8 39781495 G GT 780 PASS IDO1 CCDS47847.1 r.? - - Ins intronic I 39781495 39781503 1 54 689.648 - - 7 1 1 IDO1|CCDS47847.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IDO1|CCDS47847.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 25 17 25 0 0 ./. 8 5 10 6 123 98 123 99 10 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669798387 8 39953228 TTC T 269 PASS - - - - - Del - D 39953228 39953232 2 6 253.903 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 5 0 7 0 108 101 108 101 7 0 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669799109 8 41334470 G GC 360 PASS - - - - - Ins - I 41334470 41334475 1 16 319.133 - - 4 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 3 4 5 69 57 69 58 4 5 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669800758 8 47270295 C CA 300 PASS - - - - - Ins - I 47270295 47270305 1 10 265.342 - - 9 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 1 4 1 4 52 46 52 46 1 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669802283 8 51267154 GT G 780 PASS - - - - - Del - D 51267154 51267163 1 54 699.281 - - 8 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 8 5 9 6 66 70 66 70 9 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669802547 8 51883124 ATTCTCTTC A 493 PASS - - - - - Del - D 51883124 51883134 8 84 914.444 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 11 7 12 54 62 54 62 7 12 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669802771 8 52359454 CTA C 360 PASS PXDNL CCDS47855.1 r.? - - Del intronic D 52359454 52359471 2 16 322.745 - - 8 1 1 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 3 4 3 51 64 51 64 4 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669804375 8 55202620 TTCCTTCTTGTTGC T 406 PASS - - - - - Del - D 55202620 55202634 13 60 729.591 - - 1 1 1 - - ./. 0 0 0 0 23 10 23 10 0 0 ./. 5 9 13 9 73 61 73 61 13 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669805439 8 57145043 CTA C 420 PASS - - - - - Del - D 57145043 57145059 2 20 376.536 - - 7 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 3 4 3 89 49 89 49 4 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669807550 8 61843659 A AC 269 PASS - - - - - Ins - I 61843659 61843660 1 12 238.851 - - 0 1 - - - ./. 0 0 0 0 12 6 13 6 0 0 ./. 3 2 6 4 66 43 72 43 6 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669808102 8 62965506 ATG A 300 PASS - - - - - Del - D 62965506 62965524 2 12 265.944 - - 8 1 - - - ./. 0 0 0 0 19 21 19 21 0 0 ./. 3 2 2 2 41 81 41 81 4 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669809279 8 65638742 AT A 420 PASS CYP7B1 CCDS6180.1 r.? - - Del intronic D 65638742 65638744 1 20 371.719 - - 1 1 1 CYP7B1|CCDS6180.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYP7B1|CCDS6180.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 4 3 4 3 59 71 59 71 4 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669811133 8 68814929 A AT 689 PASS - - - - - Ins - I 68814929 68814937 1 48 638.265 - - 7 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 7 7 12 55 65 55 65 7 12 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669813577 8 73534821 T TA 480 PASS KCNB2 CCDS6209.1 r.? - - Ins intronic I 73534821 73534830 1 24 422.5 - - 8 1 1 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 5 3 9 7 59 75 60 75 9 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669813585 8 73578904 TG T 269 PASS KCNB2 CCDS6209.1 r.? - - Del intronic D 73578904 73578906 1 6 260.525 - - 1 1 1 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 0 6 0 55 50 55 50 6 0 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669818514 8 83797326 AG A 300 PASS - - - - - Del - D 83797326 83797328 1 6 257.515 - - 1 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 5 0 19 0 53 62 53 62 19 0 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669819926 8 87113713 AAG A 360 PASS ATP6V0D2 CCDS6241.1 r.? - - Del intronic D 87113713 87113717 2 7 317.928 - - 1 1 - ATP6V0D2|CCDS6241.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP6V0D2|CCDS6241.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 6 0 16 0 62 44 62 44 16 0 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669820006 8 87243772 GTC G 360 PASS SLC7A13 CCDS34917.1 r.? - - Del upstream D 87243772 87243788 2 15 321.541 - - 7 1 - SLC7A13|CCDS34917.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SLC7A13|CCDS34917.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 4 2 4 50 51 50 51 2 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669820704 8 88657683 A AT 420 PASS - - - - - Ins - I 88657683 88657691 1 20 372.321 - - 7 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 3 4 6 7 64 59 64 61 6 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669823423 8 95241105 AT A 360 PASS - - - - - Del - D 95241105 95241109 1 16 319.735 - - 3 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 3 5 3 57 62 57 62 5 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669826581 8 100636236 T TA 358 PASS VPS13B CCDS6280.1 r.? - - Ins intronic I 100636236 100636237 1 18 336.8 - - 0 1 - VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 5 2 14 10 49 48 49 48 14 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669830967 8 108946614 TTA T 269 PASS RSPO2 CCDS6307.1 r.? - - Del intronic D 108946614 108946618 2 6 263.536 - - 1 1 1 RSPO2|CCDS6307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RSPO2|CCDS6307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 0 11 0 53 47 53 47 11 0 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669831624 8 110443760 AAC A 420 PASS PKHD1L1 CCDS47911.1 r.? - - Del intronic D 110443760 110443777 2 20 376.536 - - 8 1 1 PKHD1L1|CCDS47911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKHD1L1|CCDS47911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 3 4 5 4 57 64 57 64 5 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669833697 8 115197093 CTG C 300 PASS - - - - - Del - D 115197093 115197113 2 12 268.352 - - 9 1 - - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 3 3 62 57 62 57 3 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669833972 8 115738918 CTT C 1020 PASS - - - - - Del - D 115738918 115738921 2 90 912.638 - - 2 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 8 9 8 10 58 71 58 71 8 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669834768 8 117477478 AT A 269 PASS - - - - - Del - D 117477478 117477480 1 6 238.851 - - 1 1 - - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 0 9 0 66 47 66 47 9 0 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669836233 8 120511943 C CTG 672 PASS - - - - - Ins - I 120511943 120511948 2 49 630.438 - - 2 1 1 - - ./. 0 0 0 0 18 15 18 16 0 0 ./. 6 6 11 10 46 62 48 62 11 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669838835 8 125248866 A AT 600 PASS ENSG00000214803 ENST00000399016 r.? - - Ins intronic I 125248866 125248868 1 35 527.071 - - 1 1 1 ENSG00000214803|ENST00000399016|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000214803|ENST00000399016|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 9 3 9 0 0 ./. 6 4 7 7 53 59 54 59 7 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669840987 8 128993375 CTG C 329 PASS PVT1 CCDS3617.1 r.? - - Del intronic D 128993375 128993391 2 15 322.745 - - 7 1 1 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 2 4 2 4 56 64 56 64 2 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669853070 9 11733570 TA T 300 PASS - - - - - Del - D 11733570 11733578 1 10 269.833 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 1 4 5 4 16 21 16 21 5 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669877939 9 106172200 AC A 540 PASS - - - - - Del - D 106172200 106172202 1 18 470.528 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 8 1 16 4 31 18 31 18 16 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669879486 9 110600830 CTTGTGGCATTGGG C 348 PASS - - - - - Del - D 110600830 110600844 13 49 646.035 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 6 5 7 13 18 14 18 6 7 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669882604 9 119373802 G GA 660 PASS ASTN2 CCDS48009.1 r.? - - Ins intronic I 119373802 119373811 1 40 588.336 - - 8 1 1 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASTN2|ENST00000358637|r.2787_2788insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 20 20 20 20 0 0 ./. 4 7 5 8 27 23 27 24 5 8 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669896268 X 25142829 TC T 1020 PASS - - - - - Del - D 25142829 25142832 1 88 919.129 - - 2 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 7 10 10 11 21 25 21 25 10 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669897994 X 31621786 CA C 600 PASS DMD CCDS14233.1 r.? - - Del intronic D 31621786 31621790 1 35 541.018 - - 3 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 12 21 12 0 0 ./. 6 4 12 10 26 28 26 28 12 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669898619 X 33784043 C CA 1020 PASS - - - - - Ins - I 33784043 33784046 1 90 908.292 - - 2 1 1 - - ./. 0 0 0 0 20 10 21 10 0 0 ./. 9 8 11 11 24 29 24 29 11 11 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669902743 X 50808970 G GA 660 PASS - - - - - Ins - I 50808970 50808979 1 42 588.497 - - 8 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 5 6 8 9 25 26 25 26 8 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669904558 X 62713619 ACGCC AT 465 PASS - - - - - Complex - DI 62713620 62713623 4 30 0 - - 0 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 5 4 0 0 25 11 25 11 5 4 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669914834 X 103292695 G GA 300 PASS H2BFM ENST00000243297 r.? - - Ins intronic I 103292695 103292705 1 12 267.499 - - 9 1 1 H2BFM|ENST00000243297|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 H2BFM|ENST00000243297|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 16 23 16 0 0 ./. 3 2 4 2 35 24 35 24 4 2 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669918646 X 118902459 CTCCCG C 327 PASS - - - - - Del - D 118902459 118902465 5 8 378.111 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 0 7 3 10 19 27 19 27 3 10 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669920489 X 125799317 C CT 300 PASS - - - - - Ins - I 125799317 125799327 1 12 266.295 - - 9 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 3 2 3 38 11 38 11 2 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669920951 X 127911759 C CT 840 PASS - - - - - Ins - I 127911759 127911767 1 55 748.997 - - 7 1 1 - - ./. 0 0 0 0 18 24 18 24 0 0 ./. 10 4 13 6 28 20 28 20 13 6 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669922388 X 134072605 T TA 600 PASS - - - - - Ins - I 134072605 134072612 1 32 534.998 - - 6 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 7 3 10 3 17 18 17 18 10 3 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669923899 X 139976705 C CT 1020 PASS - - - - - Ins - I 139976705 139976713 1 90 909.496 - - 7 1 1 - - ./. 0 0 0 0 25 13 26 14 0 0 ./. 9 8 14 9 36 22 36 22 14 9 1 1 1 1 1 1 1 1 2579560 PD14449a PD14449b 2669926252 X 148715839 TCTTGCTAGGGG T 261 PASS HSFX2 CCDS48179.1 r.? - - Del intronic D 148715839 148715853 11 28 483.906 - - 1 1 1 HSFX2|CCDS48179.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HSFX2|CCDS48179.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 3 6 3 20 17 20 17 6 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672568306 1 21506704 C CATTATATGTAATATAT 261 PASS EIF4G3 CCDS214.1 r.? - - Ins upstream I 21506704 21506723 16 10 395.487 - - 1 1 - EIF4G3|CCDS214.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 EIF4G3|CCDS214.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 8 2 8 2 0 0 ./. 9 0 5 0 29 2 30 2 9 0 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672575800 1 43390454 C CG 300 PASS SLC2A1 CCDS477.1 r.? - - Ins downstream I 43390454 43390458 1 12 263.732 - - 3 1 1 SLC2A1|CCDS477.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SLC2A1|CCDS477.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 3 3 3 13 13 14 13 3 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672599943 1 119215388 TACTAG TCCAA 656 PASS - - - - - Complex - DI 119215389 119215393 5 56 0 - - 0 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 7 0 0 21 23 21 23 6 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672609830 1 162454770 TC T 277 PASS - - - - - Del - D 162454770 162454774 1 10 268.549 - - 3 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 4 1 5 2 33 33 33 33 5 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672611742 1 168019650 TC T 269 PASS DCAF6 CCDS1267.2 r.? - - Del intronic D 168019650 168019652 1 12 268.549 - - 1 1 1 DCAF6|CCDS1267.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCAF6|CCDS1267.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 5 3 30 16 30 16 5 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672637906 1 240700382 AT A 689 PASS GREM2 CCDS31070.1 r.? - - Del intronic D 240700382 240700390 1 49 644.517 - - 7 1 1 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 6 6 9 7 31 29 31 29 9 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672641184 1 247822848 G GT 689 PASS - - - - - Ins - I 247822848 247822853 1 49 637.293 - - 4 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 6 6 7 10 30 29 31 29 7 10 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672643709 10 4986875 AGCAAAAAGATTG A 348 PASS - - - - - Del - D 4986875 4986891 12 45 646.574 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 8 4 9 5 24 18 24 18 9 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672649172 10 16653814 GC G 420 PASS RSU1 CCDS7112.1 r.? - - Del intronic D 16653814 16653816 1 20 376.566 - - 1 1 1 RSU1|CCDS7112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RSU1|CCDS7112.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 16 6 16 0 0 ./. 4 3 4 3 29 30 29 30 4 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672651496 10 22503065 A AG 960 PASS ENSG00000224369 ENST00000412505 r.? - - Ins intronic I 22503065 22503066 1 72 851.863 - - 0 1 1 ENSG00000224369|ENST00000412505|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000224369|ENST00000412505|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 11 9 13 30 26 30 26 9 13 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672664151 10 58713470 GGCAGGCGCCTGTAGTCCCA G 290 PASS - - - - - Del - D 58713470 58713492 19 35 538.812 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 6 3 5 15 21 15 22 4 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672665795 10 62863910 TACTCCC T 348 PASS - - - - - Del - D 62863910 62863918 6 33 646.574 - - 1 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 10 4 14 15 26 15 26 4 14 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672668248 10 69525490 CT C 329 PASS - - - - - Del - D 69525490 69525494 1 15 323.287 - - 3 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 4 2 6 4 20 19 20 19 6 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672670567 10 74989812 TAC T 600 PASS FAM149B1 CCDS44435.1 r.? - - Del intronic D 74989812 74989816 2 32 538.812 - - 1 1 1 FAM149B1|CCDS44435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM149B1|CCDS44435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 7 3 8 8 22 30 22 30 8 8 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672673420 10 84325952 GT G 420 PASS NRG3 CCDS31233.1 r.? - - Del intronic D 84325952 84325958 1 18 377.168 - - 5 1 1 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 5 3 6 19 24 19 24 3 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672682268 10 111254119 TTG T 300 PASS - - - - - Del - D 111254119 111254137 2 12 263.385 - - 8 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 2 3 2 3 20 27 20 27 2 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672682874 10 113318416 AT A 420 PASS - - - - - Del - D 113318416 113318422 1 20 376.566 - - 5 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 4 6 15 24 15 24 4 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672698909 11 23706703 CT C 600 PASS - - - - - Del - D 23706703 23706711 1 32 540.245 - - 7 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 7 5 8 15 32 15 32 5 8 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672701924 11 32836146 C CT 300 PASS - - - - - Ins - I 32836146 32836150 1 12 267.112 - - 3 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 2 4 3 19 14 19 14 4 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672701925 11 32836351 TAAAAGGTAGTATATCCAG T 261 PASS - - - - - Del - D 32836351 32836374 18 30 486.22 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 4 5 4 20 15 20 15 5 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672706859 11 47617997 A AT 300 PASS C1QTNF4 CCDS7942.1 r.? - - Ins upstream I 47617997 47618004 1 10 260.489 - - 6 1 1 C1QTNF4|CCDS7942.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 C1QTNF4|CCDS7942.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 8 13 8 0 0 ./. 1 4 3 6 25 26 25 26 3 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672707892 11 49677645 TC T 300 PASS ENSG00000205035 ENST00000357667 r.? - - Del intronic D 49677645 49677648 1 12 266.51 - - 2 1 1 ENSG00000205035|ENST00000357667|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000205035|ENST00000357667|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 3 6 5 33 16 33 16 6 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672709292 11 56490661 CA C 360 PASS - - - - - Del - D 56490661 56490670 1 16 324.147 - - 8 1 1 - - ./. 0 0 0 0 25 9 25 9 0 0 ./. 3 3 4 7 18 23 18 23 4 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672713279 11 67654227 GGGGAGCTGAACTGGCTGAGGGTCGAGGCGAAAACTCGGTCTGGCTTAGGAGGACCTTGGAGGTAGAATTATGAATGGCTCATGAACGGAGCCATGGAGAGTGGATCCTGACTAAACTTAGCTATTGATCAATGTAGAGAAACTGATCAGGGTGGCTAGGAGTTTCAGTAACAACCTGCCACACAGCTTGAACAGTTGTGAGGTTCAATGACCCTTCAGGGGGCCACTTGACTTTAAACTTTGGCCATTTTATTTTGCAGAGTGTCTGGAGCTTACCTTTTTTAAGGC G 322 PASS AP003716.3 ENST00000511677 r.? - - Del intronic D 67654227 67654517 287 48 647.09 - - 1 1 1 AP003716.3|ENST00000511677|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AP003716.3|ENST00000511677|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 5 7 0 0 17 10 22 17 5 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672720376 11 88467553 GT G 397 PASS GRM5 CCDS44694.1 r.? - - Del intronic D 88467553 88467555 1 18 375.763 - - 1 1 1 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 5 2 7 13 19 13 19 2 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672720797 11 89851301 AT A 480 PASS - - - - - Del - D 89851301 89851307 1 24 430.992 - - 5 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 5 5 7 17 29 17 29 5 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672728032 11 112894646 GA G 300 PASS - - - - - Del - D 112894646 112894656 1 12 269.52 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 3 4 14 17 14 17 3 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672728877 11 115785288 TC T 420 PASS - - - - - Del - D 115785288 115785290 1 20 378.171 - - 1 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 4 3 5 3 20 14 20 14 5 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672732942 11 129024081 TCTTA T 329 PASS ARHGAP32 CCDS44769.1 r.? - - Del intronic D 129024081 129024089 4 15 324.147 - - 1 1 1 ARHGAP32|CCDS44769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP32|CCDS44769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 2 5 4 21 30 21 30 5 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672751023 12 54659535 CAGGCCAAGAGGCTGGGCACAACGG CATGATCCTTTAAAA 377 PASS CBX5 CCDS8875.1 r.? - - Complex intronic DI 54659536 54659559 24 50 0 - - 0 1 1 CBX5|CCDS8875.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 CBX5|CCDS8875.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 9 4 0 0 14 14 19 18 9 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672755298 12 66589449 G GT 960 PASS IRAK3 CCDS8975.1 r.? - - Ins intronic I 66589449 66589457 1 77 854.168 - - 7 1 1 IRAK3|CCDS8975.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IRAK3|CCDS8975.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 6 10 13 16 34 31 35 31 13 16 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672758481 12 76225057 C CT 480 PASS - - - - - Ins - I 76225057 76225066 1 21 427.084 - - 8 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 6 2 6 2 31 19 31 19 6 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672759967 12 80912189 AATATTTTCTCCT A 464 PASS PTPRQ ENST00000418574 r.? - - Del intronic D 80912189 80912204 12 72 863.801 - - 1 1 1 PTPRQ|ENST00000418574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRQ|ENST00000418574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 11 5 11 5 41 21 41 21 11 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672762588 12 89485322 CCAGCTGCTT C 261 PASS - - - - - Del - D 89485322 89485337 9 30 485.888 - - 1 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 5 4 6 4 23 21 23 21 6 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672767825 12 103336778 GA G 509 PASS - - - - - Del - D 103336778 103336780 1 30 485.286 - - 1 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 5 4 5 9 40 34 40 34 5 9 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672769159 12 106690131 AAATTAGATAATTATGCC A 551 PASS - - - - - Del - D 106690131 106690152 17 108 1025.76 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 11 8 11 9 26 16 27 16 12 9 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672769421 12 107561932 CA C 660 PASS - - - - - Del - D 107561932 107561938 1 40 590.251 - - 5 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 7 5 7 31 29 31 29 5 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672773479 12 117781427 CT C 780 PASS NOS1 CCDS41842.1 r.? - - Del intronic D 117781427 117781431 1 54 700.634 - - 3 1 1 NOS1|CCDS41842.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NOS1|CCDS41842.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 8 5 12 5 32 25 32 25 12 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672773537 12 117991665 TCC T 269 PASS KSR2 ENST00000425217 r.? - - Del intronic D 117991665 117991669 2 10 268.132 - - 3 1 1 KSR2|ENST00000425217|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KSR2|ENST00000425217|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 1 4 1 6 31 30 31 30 1 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672778283 12 127201689 GGA G 389 PASS - - - - - Del - D 127201689 127201709 2 20 370.086 - - 9 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 3 4 4 4 46 24 46 24 4 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672778310 12 127270064 CA C 927 PASS - - - - - Del - D 127270064 127270069 1 70 908.757 - - 4 1 1 - - ./. 0 0 0 0 2 19 2 19 0 0 ./. 4 13 7 24 13 33 13 33 7 24 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672780846 12 133207534 T TAA 329 PASS POLE CCDS9278.1 r.? - - Ins intronic I 133207534 133207541 2 12 316.701 - - 6 1 1 POLE|CCDS9278.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 POLE|CCDS9278.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 1 5 2 39 23 39 23 5 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672787379 13 32953548 AGG A 840 PASS BRCA2 CCDS9344.1 r.9083_9084delGG c.8850_8851delGG p.K2950fs*6 Del frameshift D 32953548 32953551 2 63 757.189 - - 2 1 1 BRCA2|CCDS9344.1|r.9083_9084delGG|c.8850_8851delGG|p.K2950fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 BRCA2|CCDS9344.1|r.9083_9084delGG|c.8850_8851delGG|p.K2950fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 19 8 19 8 0 0 ./. 8 6 10 9 20 27 20 27 10 9 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672788019 13 35226335 CTGCAAGTGCACA CAAGAATT 290 PASS - - - - - Complex - DI 35226336 35226347 12 36 0 - - 0 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 5 5 0 0 24 25 24 25 5 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672796144 13 59580128 GACATTCACAAAAGATATGTCAAGGCTC G 307 PASS - - - - - Del - D 59580128 59580159 27 42 595.407 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 6 3 4 18 16 20 18 5 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672803561 13 80246495 GA G 420 PASS - - - - - Del - D 80246495 80246499 1 18 378.895 - - 3 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 2 5 2 5 24 35 24 35 2 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672804011 13 81417483 GA G 540 PASS - - - - - Del - D 81417483 81417493 1 28 487.151 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 3 11 5 46 15 46 15 11 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672804025 13 81459575 T TA 900 PASS - - - - - Ins - I 81459575 81459585 1 70 799.878 - - 9 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 6 9 7 13 25 37 25 37 7 13 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672805421 13 85728617 AG A 360 PASS - - - - - Del - D 85728617 85728619 1 15 324.768 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 2 4 2 23 12 23 12 4 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672806968 13 90287958 CCATCGCATGTCAA C 290 PASS - - - - - Del - D 90287958 90287975 13 27 541.279 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 8 2 8 2 26 13 27 13 9 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672809571 13 97251399 TC T 360 PASS HS6ST3 CCDS9481.1 r.? - - Del intronic D 97251399 97251401 1 16 324.768 - - 1 1 1 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 3 3 5 4 23 34 23 34 5 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672809673 13 97790702 CA C 480 PASS - - - - - Del - D 97790702 97790705 1 25 433.023 - - 2 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 4 6 6 17 15 17 15 6 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672810229 13 99192407 AG A 300 PASS STK24 CCDS32001.1 r.? - - Del intronic D 99192407 99192409 1 10 270.64 - - 1 1 1 STK24|CCDS32001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK24|CCDS32001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 1 4 3 27 22 27 22 4 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672812253 13 104612276 CA C 300 PASS - - - - - Del - D 104612276 104612278 1 10 270.64 - - 1 1 1 - - ./. 0 0 0 0 10 23 10 23 0 0 ./. 1 4 4 4 20 27 20 27 4 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672813032 13 106714097 GT G 540 PASS - - - - - Del - D 106714097 106714099 1 28 482.335 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 6 3 7 6 18 32 18 32 7 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672814196 13 109741707 GCCCGCCA G 261 PASS MYO16 CCDS32008.1 r.? - - Del intronic D 109741707 109741717 7 24 484.141 - - 1 1 1 MYO16|CCDS32008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO16|CCDS32008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 2 7 2 8 18 20 19 20 3 8 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672814577 13 110836182 AGCACAGCCCCGGCCCTCTGG A 261 PASS COL4A1 CCDS9511.1 r.? - - Del intronic D 110836182 110836207 20 30 487.151 - - 1 1 1 COL4A1|CCDS9511.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL4A1|CCDS9511.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 5 5 5 28 22 28 22 5 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672814794 13 111442318 GCTTTTCTCCTCCTCAACATTA G 261 PASS - - - - - Del - D 111442318 111442341 21 30 487.151 - - 1 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 5 4 4 20 15 20 16 4 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672815262 13 113029900 CAGAGTG CCCA 269 PASS C13orf28 CCDS9524.1 r.? - - Complex upstream DI 113029901 113029906 6 10 0 - - 0 1 1 C13orf28|CCDS9524.1|r.?|-|-|protein_coding:indel:2KB_upstream_variant|SO:0000010:SO:1000032:SO:0001636 C13orf28|CCDS9524.1|r.?|-|-|protein_coding:indel:2KB_upstream_variant|SO:0000010:SO:1000032:SO:0001636 ./. 0 0 0 0 5 8 5 8 0 0 ./. 1 4 0 0 14 22 14 22 1 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672819096 14 27769138 GT G 300 PASS - - - - - Del - D 27769138 27769143 1 10 270.891 - - 4 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 1 4 2 5 19 30 19 30 2 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672819662 14 29282458 A AT 300 PASS - - - - - Ins - I 29282458 29282468 1 12 267.279 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 2 3 22 32 22 32 2 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672820423 14 31638264 A AT 300 PASS HECTD1 CCDS41939.1 r.? - - Ins intronic I 31638264 31638273 1 10 267.881 - - 8 1 1 HECTD1|CCDS41939.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HECTD1|CCDS41939.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 4 4 23 37 24 37 4 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672822954 14 37961863 G GT 300 PASS MIPOL1 CCDS9664.1 r.? - - Ins intronic I 37961863 37961873 1 10 266.677 - - 9 1 1 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 4 1 4 17 20 18 20 1 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672825449 14 46488763 GT G 480 PASS - - - - - Del - D 46488763 46488765 1 24 432.824 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 5 5 5 24 28 24 28 5 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672826023 14 48101965 AG A 480 PASS MDGA2 CCDS45098.1 r.? - - Del intronic D 48101965 48101974 1 24 430.416 - - 8 1 1 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 3 10 5 34 29 34 29 10 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672826031 14 48124967 AC A 480 PASS MDGA2 CCDS45098.1 r.? - - Del intronic D 48124967 48124969 1 25 433.426 - - 1 1 1 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 4 5 9 29 28 29 28 5 9 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672833626 14 70446308 C CGT 300 PASS SMOC1 CCDS32110.1 r.? - - Ins intronic I 70446308 70446325 2 12 258.85 - - 8 1 1 SMOC1|CCDS32110.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMOC1|CCDS32110.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 2 3 2 4 23 28 24 28 2 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672837260 14 78947303 TC T 480 PASS - - - - - Del - D 78947303 78947306 1 24 433.426 - - 2 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 3 5 3 23 17 23 17 5 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672844021 14 99110372 TTA T 300 PASS - - - - - Del - D 99110372 99110379 2 12 270.891 - - 3 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 2 3 2 22 17 22 17 3 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672846728 14 106664759 AAT A 629 PASS - - - - - Del - D 106664759 106664765 2 42 594.756 - - 2 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 6 5 8 7 32 23 32 23 9 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672884644 16 19726298 TTTC T 420 PASS C16orf88 CCDS42127.1 r.136_138delGAA c.57_59delGAA p.K20delK Del inframe D 19726298 19726310 3 18 378.006 - - 3 1 1 C16orf88|CCDS42127.1|r.136_138delGAA|c.57_59delGAA|p.K20delK|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 C16orf88|CCDS42127.1|r.136_138delGAA|c.57_59delGAA|p.K20delK|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 2 6 3 26 14 26 14 6 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672886953 16 25655008 CATGGAGGTA C 377 PASS - - - - - Del - D 25655008 25655021 9 56 700.636 - - 1 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 7 6 9 6 28 30 28 30 9 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672888759 16 30716618 C CA 449 PASS SRCAP CCDS10689.2 r.? - - Ins intronic I 30716618 30716628 1 16 426.159 - - 9 1 1 SRCAP|CCDS10689.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SRCAP|CCDS10689.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 1 7 1 7 11 30 11 30 1 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672891422 16 34373012 T TC 420 PASS - - - - - Ins - I 34373012 34373014 1 20 374.996 - - 1 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 4 3 6 7 19 26 19 28 6 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672891441 16 34484842 CCAGTAAG C 261 PASS ENSG00000237113 ENST00000425453 r.? - - Del downstream D 34484842 34484850 7 28 487.556 - - 1 1 1 ENSG00000237113|ENST00000425453|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000237113|ENST00000425453|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 6 3 6 14 26 14 26 3 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672893910 16 52532500 T TG 300 PASS TOX3 ENST00000219746 r.? - - Ins intronic I 52532500 52532510 1 12 267.854 - - 9 1 1 TOX3|ENST00000219746|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TOX3|ENST00000219746|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 2 4 4 25 26 26 26 4 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672916225 17 29464811 GAA G 420 PASS NF1 CCDS42292.1 r.? - - Del intronic D 29464811 29464821 2 20 377.209 - - 9 1 1 NF1|CCDS42292.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AC134669.1|CCDS47195.1|r.2056_2057delAA|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 4 4 6 26 29 26 29 4 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672922483 17 45593992 C CA 360 PASS - - - - - Ins - I 45593992 45594001 1 16 316.441 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 3 6 6 39 24 40 24 6 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672925753 17 52864632 AC A 480 PASS - - - - - Del - D 52864632 52864634 1 24 432.558 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 3 5 6 30 26 30 26 5 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672926187 17 54335545 TCTTCATTCCACAATTTAAATGGGCTTCTGATGGCTTTACCTGTTAGGTGAACTTTTAGGAA T 290 PASS ANKFN1 CCDS32686.1 r.? - - Del intronic D 54335545 54335610 61 36 541.45 - - 1 1 1 ANKFN1|CCDS32686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKFN1|CCDS32686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 5 0 0 17 16 22 21 5 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672928084 17 58180026 CGGCCGCGGGCCGCGGG C 292 PASS - - - - - Del - D 58180026 58180043 16 36 587.768 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 8 3 8 3 28 12 29 12 9 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672934007 17 70915397 GATA G 300 PASS SLC39A11 CCDS11690.1 r.? - - Del intronic D 70915397 70915417 3 12 270.725 - - 6 1 1 SLC39A11|CCDS11690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC39A11|CCDS11690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 3 2 24 42 24 42 3 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672947870 18 30381070 GGTGTCCAGTAA G 406 PASS - - - - - Del - D 30381070 30381085 11 55 759.767 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 10 4 11 16 30 16 30 4 11 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672949960 18 38519120 GCTATC G 329 PASS - - - - - Del - D 38519120 38519128 5 12 325.614 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 5 1 6 19 20 19 20 1 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672958814 18 66031251 ACATAG A 420 PASS - - - - - Del - D 66031251 66031260 5 18 379.883 - - 1 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 2 5 3 16 15 16 15 5 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672961201 18 73217031 CTG C 360 PASS - - - - - Del - D 73217031 73217050 2 15 325.614 - - 9 1 - - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 4 2 4 17 19 17 19 2 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672973140 19 24522423 TCACAGAGTTAAA TGATGTGTG 348 PASS - - - - - Complex - DI 24522424 24522435 12 49 0 - - 0 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 6 6 0 0 35 44 35 44 6 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672973663 19 28769034 C CT 360 PASS - - - - - Ins - I 28769034 28769036 1 16 321.898 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 3 5 4 25 15 25 15 5 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672987005 2 4330408 G GA 697 PASS - - - - - Ins - I 4330408 4330416 1 48 638.399 - - 7 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 7 5 8 21 24 21 24 5 8 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2672989846 2 14035083 GC G 300 PASS - - - - - Del - D 14035083 14035086 1 12 269.01 - - 2 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 2 3 4 6 14 10 14 10 4 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673018166 2 108747026 AG A 300 PASS - - - - - Del - D 108747026 108747029 1 10 269.01 - - 2 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 1 4 2 6 17 16 17 16 2 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673018463 2 109554163 ATGTGTGTGTATG A 290 PASS EDAR CCDS2081.1 r.? - - Del intronic D 109554163 109554187 12 32 538.02 - - 1 1 - EDAR|CCDS2081.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 EDAR|CCDS2081.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 7 3 9 24 36 25 37 4 10 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673031421 2 152011831 G GA 360 PASS - - - - - Ins - I 152011831 152011839 1 16 318.597 - - 7 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 3 4 3 22 22 22 22 4 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673038497 2 175424623 TA T 300 PASS WIPF1 CCDS2260.1 r.4263delU c.? p.? Del 3'UTR variant D 175424623 175424632 1 12 269.01 - - 8 1 1 WIPF1|CCDS2260.1|r.4263delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 WIPF1|CCDS2260.1|r.4263delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 19 11 19 11 0 0 ./. 3 2 4 3 19 23 19 23 4 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673040643 2 183381535 G GA 329 PASS PDE1A CCDS2285.1 r.? - - Ins intronic I 183381535 183381538 1 7 319.199 - - 2 1 1 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 8 0 0 ./. 6 0 8 0 18 10 18 11 9 0 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673042627 2 190204400 ATG A 360 PASS - - - - - Del - D 190204400 190204407 2 15 322.21 - - 3 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 2 5 2 21 22 21 22 5 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673055847 2 231098111 C CA 449 PASS SP140 CCDS42831.1 r.? - - Ins intronic I 231098111 231098120 1 25 423.793 - - 8 1 1 SP140|CCDS42831.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SP140|CCDS42831.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 4 9 6 21 18 21 18 9 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673057666 2 236770489 GCATTTCCTTAAATGA G 348 PASS AGAP1 CCDS33408.1 r.? - - Del intronic D 236770489 236770505 15 48 645.624 - - 1 1 1 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 23 17 23 0 0 ./. 5 7 6 7 22 25 22 25 6 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673058034 2 238163639 G GT 300 PASS ENSG00000224132 ENST00000445534 r.? - - Ins upstream I 238163639 238163649 1 12 264.795 - - 9 1 1 ENSG00000224132|ENST00000445534|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ENSG00000224132|ENST00000445534|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 16 10 16 11 0 0 ./. 3 2 3 2 24 25 25 25 3 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673065256 20 17196308 TAATATGAC T 319 PASS - - - - - Del - D 17196308 17196317 8 42 596.379 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 6 6 5 19 23 19 24 6 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673068343 20 26231429 CA C 360 PASS - - - - - Del - D 26231429 26231434 1 12 321.138 - - 4 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 5 3 5 14 24 14 24 3 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673070511 20 32579215 TC T 300 PASS RALY CCDS13229.1 r.? - - Del upstream D 32579215 32579223 1 12 271.629 - - 7 1 1 RALY|CCDS13229.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RALY|CCDS13229.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 2 4 16 17 16 17 2 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673076661 20 49371290 C CA 360 PASS PARD6B CCDS33485.1 r.? - - Ins downstream I 49371290 49371297 1 16 322.342 - - 6 1 1 PARD6B|CCDS33485.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 PARD6B|ENST00000396039|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 10 22 10 0 0 ./. 3 3 3 4 27 33 27 33 3 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673080316 20 59304858 GTGAAC G 445 PASS ENSG00000237240 ENST00000456299 r.? - - Del intronic D 59304858 59304866 5 35 543.257 - - 1 1 1 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 6 5 7 32 24 32 24 5 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673087419 21 20323750 CT C 360 PASS - - - - - Del - D 20323750 20323754 1 15 326.254 - - 3 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 4 2 5 25 24 25 24 2 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673089147 21 24447844 ACATA ATAT 300 PASS - - - - - Complex - DI 24447845 24447848 4 10 0 - - 0 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 1 0 0 20 23 20 23 4 1 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673103643 22 30950634 CAACATCAAATTCCTT C 261 PASS GAL3ST1 CCDS13879.1 r.1881_1895delAAGGAAUUUGAUGUU c.? p.? Del 3'UTR variant D 30950634 30950650 15 30 491.65 - - 1 1 1 GAL3ST1|CCDS13879.1|r.1881_1895delAAGGAAUUUGAUGUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 GAL3ST1|CCDS13879.1|r.1881_1895delAAGGAAUUUGAUGUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 5 8 5 0 0 ./. 5 4 7 5 12 17 12 17 7 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673114049 3 11138913 A AT 480 PASS - - - - - Ins - I 11138913 11138922 1 21 426.203 - - 8 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 6 2 6 7 33 24 34 24 6 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673114543 3 12420515 G GT 540 PASS PPARG CCDS2610.2 r.? - - Ins intronic I 12420515 12420524 1 30 479.478 - - 8 1 1 PPARG|CCDS2610.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PPARG|CCDS2610.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 4 7 4 37 21 37 21 7 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673114752 3 13114687 CG C 780 PASS IQSEC1 ENST00000435445 r.? - - Del upstream D 13114687 13114694 1 54 699.804 - - 6 1 1 IQSEC1|ENST00000435445|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 IQSEC1|ENST00000435445|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 8 6 9 18 18 18 18 6 9 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673116401 3 19219185 CA C 300 PASS KCNH8 CCDS2632.1 r.? - - Del intronic D 19219185 19219190 1 10 269.387 - - 4 1 1 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 1 4 2 4 14 14 14 14 2 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673117054 3 21636179 CTAAATTT C 261 PASS ZNF385D CCDS2636.1 r.? - - Del intronic D 21636179 21636193 7 30 484.897 - - 1 1 1 ZNF385D|CCDS2636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF385D|CCDS2636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 5 4 5 12 22 12 22 4 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673133394 3 74670754 AGTAATCATTG A 261 PASS - - - - - Del - D 74670754 74670768 10 30 484.897 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 5 7 5 24 11 24 11 7 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673134774 3 75875843 CT C 540 PASS - - - - - Del - D 75875843 75875848 1 28 478.876 - - 4 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 3 6 6 36 34 36 34 6 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673140427 3 97460028 CAA C 300 PASS EPHA6 CCDS46876.1 r.? - - Del intronic D 97460028 97460035 2 12 269.387 - - 6 1 1 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 2 4 4 17 22 17 22 4 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673140994 3 99461440 GA G 420 PASS COL8A1 CCDS2934.1 r.? - - Del intronic D 99461440 99461445 1 18 375.938 - - 4 1 1 COL8A1|CCDS2934.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 COL8A1|CCDS2934.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 2 5 4 28 19 28 19 5 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673144475 3 110088674 C CT 720 PASS - - - - - Ins - I 110088674 110088679 1 24 638.1 - - 4 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 1 11 3 13 22 37 23 37 3 13 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673156591 3 146959115 A AACAAATTCTACAAATTCT 261 PASS - - - - - Ins - I 146959115 146959124 18 28 387.363 - - 0 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 6 3 1 2 14 19 19 21 6 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673160411 3 159653903 TTGGTCAGGC T 261 PASS - - - - - Del - D 159653903 159653918 9 24 484.897 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 7 2 7 3 24 21 24 21 7 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673161050 3 161423149 CTA C 480 PASS - - - - - Del - D 161423149 161423153 2 24 431.019 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 3 6 6 23 22 23 22 6 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673168440 3 184799309 TG T 840 PASS C3orf70 CCDS33900.1 r.2429delC c.? p.? Del 3'UTR variant D 184799309 184799312 1 60 754.284 - - 2 1 1 C3orf70|CCDS33900.1|r.2429delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 C3orf70|CCDS33900.1|r.2429delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 9 5 14 12 30 12 30 5 14 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673169600 3 188115540 TAC T 360 PASS LPP CCDS3291.1 r.? - - Del intronic D 188115540 188115544 2 15 323.265 - - 1 1 1 LPP|CCDS3291.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPP|CCDS3291.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 2 7 4 23 14 23 14 7 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673178334 4 16174818 A AT 269 PASS TAPT1 CCDS47030.1 r.? - - Ins intronic I 16174818 16174828 1 12 266.137 - - 9 1 1 TAPT1|CCDS47030.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TAPT1|CCDS47030.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 12 0 0 ./. 2 3 3 3 20 33 21 33 3 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673179680 4 20683290 GAAAT G 329 PASS - - - - - Del - D 20683290 20683299 4 12 322.977 - - 2 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 1 5 1 22 15 22 15 5 1 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673197087 4 72892979 TGA T 840 PASS NPFFR2 CCDS3551.1 r.? - - Del upstream D 72892979 72892985 2 63 753.612 - - 2 1 1 NPFFR2|CCDS3551.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 NPFFR2|CCDS3551.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 8 11 8 0 0 ./. 8 6 12 10 21 23 21 23 12 10 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673197420 4 73836899 TAAG T 329 PASS - - - - - Del - D 73836899 73836904 3 15 322.977 - - 1 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 2 4 2 24 23 24 23 4 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673214751 4 127197029 GTTTATAGAGAACTAATGC G 493 PASS - - - - - Del - D 127197029 127197053 18 84 914.499 - - 1 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 11 6 0 0 24 22 24 22 11 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673219742 4 141344902 T TTA 300 PASS CLGN CCDS3751.1 r.? - - Ins intronic I 141344902 141344903 2 12 263.127 - - 0 1 1 CLGN|CCDS3751.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CLGN|CCDS3751.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 9 17 10 0 0 ./. 2 3 2 3 23 28 23 29 2 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673223455 4 152721953 CTT C 300 PASS - - - - - Del - D 152721953 152721957 2 12 266.739 - - 3 1 - - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 2 3 3 4 30 29 30 29 3 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673224163 4 154741478 GAAAACACC G 551 PASS - - - - - Del - D 154741478 154741491 8 108 1022.76 - - 1 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 8 11 13 18 27 31 27 31 13 18 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673228122 4 165403794 TGTACCATATC TTTTTATTA 464 PASS - - - - - Complex - DI 165403795 165403804 10 80 0 - - 0 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 7 9 0 0 23 25 23 25 7 9 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673228715 4 166868953 GCATCTGGT G 336 PASS TLL1 CCDS3811.1 r.? - - Del intronic D 166868953 166868963 8 33 645.954 - - 1 1 1 TLL1|CCDS3811.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TLL1|CCDS3811.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 10 4 11 8 26 8 26 4 11 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673229098 4 167864372 ACAAATTC A 290 PASS SPOCK3 CCDS34095.1 r.? - - Del intronic D 167864372 167864383 7 32 537.09 - - 1 1 1 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 7 3 0 0 38 25 38 25 7 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673233457 4 179676015 G GA 300 PASS - - - - - Ins - I 179676015 179676025 1 12 263.729 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 2 6 2 29 30 29 31 6 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673240323 5 2112329 TA T 1020 PASS - - - - - Del - D 2112329 2112334 1 88 916.18 - - 4 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 10 7 12 8 33 32 33 32 12 8 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673241225 5 4411941 GCTTGAGC G 261 PASS ENSG00000237600 ENST00000432969 r.? - - Del intronic D 4411941 4411951 7 24 485.355 - - 1 1 1 ENSG00000237600|ENST00000432969|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237600|ENST00000432969|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 7 4 7 19 31 19 31 4 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673242364 5 7567379 TAGCTCCCA T 348 PASS ADCY2 CCDS3872.2 r.? - - Del intronic D 7567379 7567390 8 48 647.141 - - 1 1 1 ADCY2|CCDS3872.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY2|CCDS3872.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 7 5 8 7 29 20 29 20 8 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673249315 5 26915211 AGGTTATT A 406 PASS CDH9 CCDS3893.1 r.? - - Del intronic D 26915211 26915219 7 60 754.395 - - 1 1 1 CDH9|CCDS3893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH9|CCDS3893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 9 5 10 7 34 21 34 21 10 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673256978 5 52474758 CCAT C 360 PASS - - - - - Del - D 52474758 52474763 3 12 323.57 - - 1 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 1 6 3 26 17 26 17 6 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673260966 5 65552244 C CA 520 PASS AC092373.1 ENST00000510964 r.? - - Ins intronic I 65552244 65552254 1 30 479.937 - - 9 1 1 AC092373.1|ENST00000510964|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC092373.1|ENST00000510964|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 4 5 5 5 21 20 21 20 5 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673264804 5 78804001 TAGTAATCTTCACACAGAAGAGA T 261 PASS HOMER1 CCDS43335.1 r.? - - Del intronic D 78804001 78804027 22 18 485.355 - - 1 1 1 HOMER1|CCDS43335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HOMER1|CCDS43335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 8 1 7 1 21 19 22 19 8 1 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673266826 5 85100770 TA T 480 PASS - - - - - Del - D 85100770 85100772 1 25 431.427 - - 1 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 4 4 4 4 13 14 13 14 4 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673271721 5 103444589 TC T 300 PASS - - - - - Del - D 103444589 103444591 1 6 269.642 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 0 5 1 7 12 18 12 18 1 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673292566 5 173960552 TC T 360 PASS - - - - - Del - D 173960552 173960554 1 16 323.57 - - 1 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 3 3 3 19 24 19 24 3 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673293652 5 176775783 GC G 538 PASS LMAN2 CCDS4417.1 r.? - - Del intronic D 176775783 176775785 1 35 537.478 - - 1 1 1 LMAN2|CCDS4417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMAN2|CCDS4417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 6 4 7 5 27 30 27 30 7 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673299114 6 9755261 A AT 629 PASS OFCC1 ENST00000460363 r.? - - Ins intronic I 9755261 9755271 1 42 586.808 - - 9 1 1 OFCC1|ENST00000460363|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OFCC1|ENST00000460363|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 9 0 0 ./. 6 5 7 7 26 22 26 22 7 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673305222 6 25180452 GGAGATT G 290 PASS CMAH ENST00000377993 r.? - - Del intronic D 25180452 25180462 6 36 538.279 - - 1 1 1 CMAH|ENST00000377993|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CMAH|ENST00000377993|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 5 7 5 19 23 19 23 7 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673312510 6 42685370 ACCCT A 389 PASS PRPH2 CCDS4871.1 r.? - - Del intronic D 42685370 42685377 4 18 377.638 - - 1 1 1 PRPH2|CCDS4871.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRPH2|CCDS4871.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 2 6 2 30 26 30 26 6 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673316229 6 53839530 GCACTTCCAAGTGCTGCGGAATTAACCTTGTAAAAATATTACTCTTACTCTGTAATTAACCTGTCCAGGAACCCCTGGGGGCTTCCTATTGCCCAAAGGGTAAAATCCACAGTCTTTGTCCCGGTGACCAGCTCTTCTGCAATGGACTGGC G 377 PASS C6orf142 ENST00000505762 r.? - - Del intronic D 53839530 53839683 150 54 701.328 - - 1 1 1 C6orf142|ENST00000505762|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf142|ENST00000505762|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 8 0 0 8 20 13 28 5 8 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673322189 6 72081778 GT G 269 PASS ENSG00000203917 ENST00000370429 r.? - - Del downstream D 72081778 72081785 1 10 269.741 - - 6 1 1 ENSG00000203917|ENST00000370429|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000203917|ENST00000370429|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 1 6 2 25 20 25 20 6 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673324828 6 80660390 GT G 600 PASS ELOVL4 CCDS4992.1 r.? - - Del upstream D 80660390 80660397 1 35 539.483 - - 6 1 1 ELOVL4|CCDS4992.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ELOVL4|CCDS4992.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 6 7 6 20 21 20 21 7 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673342279 6 148505391 TTC T 300 PASS - - - - - Del - D 148505391 148505395 2 10 262.517 - - 1 1 1 - - ./. 0 0 0 0 21 14 21 14 0 0 ./. 4 1 10 2 39 20 39 20 10 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673354405 7 15719860 ACATCTGAGATGAGCACAAATGGATCAATAGATACATTATTG ATACATTATGATAC 348 PASS MEOX2 CCDS34605.1 r.? - - Complex intronic DI 15719861 15719901 41 49 0 - - 0 1 1 MEOX2|CCDS34605.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 MEOX2|CCDS34605.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 6 6 0 0 24 17 26 20 6 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673362245 7 40760931 A AT 360 PASS C7orf10 ENST00000309930 r.? - - Ins intronic I 40760931 40760940 1 7 320.165 - - 8 1 1 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 6 0 6 1 18 27 18 27 6 1 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673384315 7 107469992 A AT 269 PASS - - - - - Ins - I 107469992 107470000 1 12 266.202 - - 7 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 3 2 4 3 18 21 19 21 4 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673386657 7 116683984 CT C 300 PASS ST7OT3 CCDS5770.1 r.? - - Del intronic D 116683984 116683987 1 10 269.815 - - 2 1 1 ST7OT3|CCDS5770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST7OT3|CCDS5770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 1 6 1 19 16 19 16 6 1 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673391175 7 132441438 G GA 269 PASS - - - - - Ins - I 132441438 132441440 1 12 266.202 - - 1 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 2 3 2 4 13 23 13 23 2 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673399275 7 156919462 TTCCACATATTTGTGAGTTTCCCAAATTGTC T 319 PASS - - - - - Del - D 156919462 156919499 30 36 593.592 - - 1 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 8 3 8 3 23 10 23 10 8 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673399560 7 157751532 CAGATTCAACATAATCTCTACCAAAAATATTGATATTTTTTCAGAGAT C 348 PASS PTPRN2 CCDS5949.1 r.? - - Del intronic D 157751532 157751583 47 49 646.351 - - 1 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 6 2 1 13 15 17 20 6 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673403902 8 10842459 G GT 360 PASS XKR6 CCDS5978.2 r.? - - Ins intronic I 10842459 10842468 1 12 320.264 - - 8 1 1 XKR6|CCDS5978.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XKR6|CCDS5978.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 5 1 10 2 30 16 30 16 10 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673413306 8 35436585 GGGGAGAGGATATAGAT G 435 PASS UNC5D CCDS6093.2 r.? - - Del intronic D 35436585 35436602 16 66 809.691 - - 1 1 1 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 10 6 10 21 20 21 20 6 10 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673414616 8 39922541 A AC 300 PASS - - - - - Ins - I 39922541 39922543 1 10 266.887 - - 1 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 1 4 1 4 22 26 22 28 1 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673418725 8 56431465 GA G 420 PASS XKR4 CCDS34893.1 r.? - - Del intronic D 56431465 56431473 1 18 377.856 - - 7 1 1 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 5 4 6 18 17 18 17 4 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673428687 8 90261247 GT G 509 PASS - - - - - Del - D 90261247 90261254 1 28 485.814 - - 6 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 6 6 8 21 22 21 22 6 8 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673429580 8 93633282 TA T 600 PASS - - - - - Del - D 93633282 93633284 1 35 539.794 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 6 4 6 16 24 16 24 4 6 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673429586 8 93653454 AC A 660 PASS - - - - - Del - D 93653454 93653456 1 42 592.569 - - 1 1 1 - - ./. 0 0 0 0 17 6 17 6 0 0 ./. 6 5 9 8 25 18 25 18 9 8 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673441854 8 130198563 CT C 960 PASS - - - - - Del - D 130198563 130198565 1 80 859.456 - - 1 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 9 7 11 11 27 19 27 19 11 11 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673442538 8 132167730 TA T 780 PASS - - - - - Del - D 132167730 132167732 1 54 701.732 - - 1 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 8 5 9 10 39 34 39 34 9 10 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673442907 8 133462524 T TATTTTACAACCTCTAGCTAGCCACAGAGTGCTGATTGTGCATTTTTCCAGGGCACTGATTGGCAC 300 PASS KCNQ3 CCDS34943.1 r.? - - Ins intronic I 133462524 133462534 65 10 74.2274 - - 0 1 1 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 1 4 0 0 29 30 29 31 1 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673443727 8 136177122 CA C 480 PASS - - - - - Del - D 136177122 136177126 1 24 430.029 - - 3 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 3 6 3 30 17 30 17 6 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673444808 8 139143642 ACTC A 805 PASS FAM135B CCDS6375.2 r.5585_5587delGAG c.? p.? Del 3'UTR variant D 139143642 139143647 3 81 863.67 - - 1 1 1 FAM135B|CCDS6375.2|r.5585_5587delGAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 FAM135B|CCDS6375.2|r.5585_5587delGAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 11 10 11 0 0 ./. 8 8 9 8 30 27 30 27 9 8 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673453843 9 19971760 AATG A 300 PASS - - - - - Del - D 19971760 19971780 3 10 269.909 - - 6 1 - - - ./. 0 0 0 0 12 4 12 4 0 0 ./. 1 4 1 5 8 26 8 26 1 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673456374 9 29849158 TGTACAGAAAA T 435 PASS - - - - - Del - D 29849158 29849169 10 70 811.534 - - 1 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 9 6 9 7 16 12 16 12 9 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673465098 9 75592848 AG A 509 PASS ALDH1A1 ENST00000419959 r.? - - Del intronic D 75592848 75592851 1 30 486.318 - - 2 1 1 ALDH1A1|ENST00000419959|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ALDH1A1|ENST00000419959|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 5 5 7 13 18 13 18 5 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673469140 9 89244477 AG A 660 PASS - - - - - Del - D 89244477 89244482 1 30 595.125 - - 4 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 9 2 10 2 34 12 34 12 10 2 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673473598 9 104523436 AT A 300 PASS - - - - - Del - D 104523436 104523444 1 10 270.511 - - 7 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 1 4 1 12 19 12 19 4 1 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673474149 9 106354710 CT C 340 PASS - - - - - Del - D 106354710 106354715 1 18 378.716 - - 4 1 - - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 2 7 5 24 19 24 19 7 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673477368 9 115514013 CTGTCTGGGGCTCCATTCACCTCCGACGGCCTACCACTCTGTTTAGGTTTGGCAGAGGCTGGTTTTGTGGTTGATGGAAAGAAAGCTCGCCCTTTGACCTTCTTTGTACGGAGGGAGGCTCCAGATTTTCTTAGAGCAGCACAACCCTCCTGCTGCTTGGAGAGACAGCAGAGTCCAGGCAGGGGTAAGGGACGACCTCCTCCCTACCCCCATGGCCATTTCAGCTGTGAAGGAGACTTGAGCAGTGAT C 261 PASS SNX30 CCDS43865.1 r.? - - Del intronic D 115514013 115514265 248 30 480.298 - - 1 1 1 SNX30|CCDS43865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX30|CCDS43865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 5 0 0 13 8 17 13 4 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673492178 X 27208352 T TA 538 PASS - - - - - Ins - I 27208352 27208362 1 35 534.151 - - 9 1 1 - - ./. 0 0 0 0 17 18 17 19 0 0 ./. 6 4 10 8 27 31 27 32 10 8 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673492298 X 27554246 TA T 989 PASS - - - - - Del - D 27554246 27554252 1 88 919.315 - - 5 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 7 10 9 14 21 31 21 31 9 14 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673493085 X 30638604 GCT G 300 PASS - - - - - Del - D 30638604 30638622 2 12 270.387 - - 8 1 1 - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 2 3 1 3 30 23 30 23 2 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673499777 X 62960242 AGGAGTCAGGTCCAAT ACTCC 406 PASS ARHGEF9 CCDS35315.1 r.? - - Complex intronic DI 62960243 62960257 15 60 0 - - 0 1 1 ARHGEF9|CCDS35315.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ARHGEF9|CCDS35315.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 5 9 0 0 25 29 25 29 5 9 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673504630 X 83850206 C CA 360 PASS - - - - - Ins - I 83850206 83850215 1 15 319.648 - - 8 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 2 4 3 25 22 25 22 4 3 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673505844 X 88026005 AG A 840 PASS - - - - - Del - D 88026005 88026007 1 60 756.481 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 9 5 11 8 19 26 19 26 11 8 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673510457 X 107063016 C CA 300 PASS - - - - - Ins - I 107063016 107063019 1 10 267.376 - - 2 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 1 4 4 5 25 23 25 23 4 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673515408 X 126416314 GA G 360 PASS - - - - - Del - D 126416314 126416318 1 12 324.464 - - 3 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 1 5 4 5 24 24 24 24 4 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673516367 X 131336256 TA T 480 PASS RAP2C CCDS14632.1 r.? - - Del downstream D 131336256 131336263 1 24 431.415 - - 6 1 1 RAP2C|CCDS14632.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RAP2C|CCDS14632.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 3 7 4 23 21 23 21 7 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673516773 X 133266380 G GT 600 PASS - - - - - Ins - I 133266380 133266382 1 36 534.753 - - 1 1 1 - - ./. 0 0 0 0 12 17 13 17 0 0 ./. 5 5 7 5 22 21 22 22 7 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673516804 X 133375996 T TA 420 PASS CCDC160 CCDS48171.1 r.? - - Ins intronic I 133375996 133376004 1 18 374.327 - - 7 1 1 CCDC160|CCDS48171.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CCDC160|CCDS48171.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 2 9 4 22 23 22 23 9 4 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673517289 X 135371680 CG C 600 PASS - - - - - Del - D 135371680 135371684 1 35 532.947 - - 3 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 6 4 7 9 21 34 21 34 7 9 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673520261 X 146631198 CT C 509 PASS - - - - - Del - D 146631198 146631202 1 24 485.492 - - 3 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 2 7 4 7 14 17 14 17 4 7 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673521662 X 153079941 C CA 300 PASS PDZD4 CCDS14732.1 r.? - - Ins intronic I 153079941 153079942 1 6 267.376 - - 0 1 1 PDZD4|CCDS14732.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDZD4|CCDS14732.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 1 12 1 12 0 0 ./. 0 5 1 5 6 20 6 20 1 5 1 1 1 1 1 1 1 1 2586484 PD14452a PD14452b 2673521949 X 154625905 AT A 396 PASS - - - - - Del - D 154625905 154625908 1 20 378.541 - - 2 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 3 7 4 26 20 26 20 7 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666784224 1 19344672 T TA 300 PASS - - - - - Ins - I 19344672 19344681 1 10 265.873 - - 8 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 4 1 5 3 26 13 26 13 5 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666792927 1 46458604 C CTT 360 PASS MAST2 CCDS41326.1 r.? - - Ins intronic I 46458604 46458608 2 12 315.436 - - 3 1 1 MAST2|CCDS41326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAST2|CCDS41326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 1 5 2 7 9 21 9 21 2 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666795673 1 56743159 GATA G 267 PASS - - - - - Del - D 56743159 56743163 3 16 322.66 - - 1 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 3 5 4 17 19 17 19 5 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666828718 1 174589219 A AGAGC 344 PASS RABGAP1L CCDS1314.1 r.? - - Ins intronic I 174589219 174589220 4 81 821.896 - - 0 1 1 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 8 8 1 0 22 24 26 27 9 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666828851 1 174921493 A AAG 298 PASS RABGAP1L CCDS1314.1 r.? - - Ins intronic I 174921493 174921495 2 15 307.007 - - 0 1 - RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 2 12 2 0 0 ./. 2 4 3 4 13 16 13 16 3 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666831039 1 181394676 CG C 269 PASS CACNA1E ENST00000367573 r.? - - Del intronic D 181394676 181394678 1 12 268.884 - - 1 1 1 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 2 3 8 6 11 12 11 12 8 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666832623 1 186757528 A AT 780 PASS - - - - - Ins - I 186757528 186757535 1 44 690.669 - - 6 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 3 10 9 13 27 24 27 24 9 13 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666834752 1 192804319 AT A 809 PASS - - - - - Del - D 192804319 192804321 1 64 751.67 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 7 7 10 10 25 25 25 25 10 10 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666838465 1 202440936 T TA 449 PASS PPP1R12B CCDS30973.1 r.? - - Ins intronic I 202440936 202440938 1 24 425.397 - - 1 1 1 PPP1R12B|CCDS30973.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPP1R12B|CCDS30973.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 3 6 7 102 94 102 94 6 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666839299 1 203629225 A AG 300 PASS ATP2B4 CCDS1440.1 r.? - - Ins intronic I 203629225 203629226 1 12 265.271 - - 0 1 - ATP2B4|CCDS1440.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ATP2B4|CCDS1440.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 5 7 89 75 92 76 5 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666839511 1 203808102 AAG A 540 PASS ZC3H11A CCDS30978.1 r.? - - Del intronic D 203808102 203808106 2 10 473.755 - - 1 1 - ZC3H11A|CCDS30978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZC3H11A|CCDS30978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 9 0 13 0 106 71 106 71 16 0 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666839717 1 203966349 G GTA 718 PASS - - - - - Ins - I 203966349 203966351 2 56 664.178 - - 0 1 - - - ./. 0 0 0 0 4 6 4 6 0 0 ./. 6 7 12 11 45 47 45 47 12 12 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666840247 1 204778484 TGTGAGATGGTAGTGGGATGCTTCCCAGAATGACAGCATCAGTCTTCTCTGAGTG T 522 PASS - - - - - Del - D 204778484 204778546 54 99 967.981 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 8 10 0 0 57 50 65 60 8 10 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666840334 1 204992600 TA T 360 PASS NFASC CCDS30982.1 r.? - - Del downstream D 204992600 204992606 1 7 303.394 - - 5 1 - NFASC|CCDS30982.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NFASC|CCDS30982.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 14 8 14 0 0 ./. 0 6 0 10 68 75 68 75 0 10 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666840533 1 205186233 AAG A 300 PASS - - - - - Del - D 205186233 205186237 2 6 264.067 - - 1 1 - - - ./. 0 0 0 0 7 3 7 3 0 0 ./. 5 0 14 0 98 65 98 65 14 0 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666842019 1 207893064 AAC A 300 PASS ENSG00000249058 ENST00000508064 r.? - - Del intronic D 207893064 207893083 2 12 268.884 - - 9 1 - ENSG00000249058|ENST00000508064|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000249058|ENST00000508064|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 3 5 5 67 91 67 91 5 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666846334 1 221427616 G GA 300 PASS - - - - - Ins - I 221427616 221427626 1 12 265.873 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 2 3 17 22 18 23 2 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666856102 1 248087068 GC G 420 PASS OR2T8 CCDS31100.1 r.? - - Del downstream D 248087068 248087070 1 20 376.437 - - 1 1 1 OR2T8|CCDS31100.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OR2T8|CCDS31100.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 7 16 7 0 0 ./. 3 4 8 6 36 26 36 26 8 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666859561 10 8101709 C CT 929 PASS GATA3 CCDS31143.1 r.? - - Ins intronic I 8101709 8101713 1 72 854.36 - - 3 1 1 GATA3|CCDS31143.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GATA3|CCDS31143.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 14 21 15 0 0 ./. 5 11 7 15 12 23 12 23 7 15 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666869697 10 37542417 ACT A 300 PASS - - - - - Del - D 37542417 37542424 2 12 268.794 - - 3 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 3 4 4 17 13 17 13 5 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666875837 10 57384890 A AT 420 PASS PCDH15 ENST00000373957 r.? - - Ins intronic I 57384890 57384900 1 20 373.181 - - 9 1 1 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 16 0 0 ./. 3 4 4 6 18 14 18 15 4 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666880355 10 70887755 C CT 660 PASS VPS26A CCDS7286.1 r.? - - Ins intronic I 70887755 70887763 1 42 583.76 - - 7 1 1 VPS26A|CCDS7286.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS26A|CCDS7286.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 15 10 0 0 ./. 5 6 6 8 22 19 22 20 6 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666880489 10 71235935 AG A 540 PASS TSPAN15 CCDS7294.1 r.? - - Del intronic D 71235935 71235938 1 30 485.996 - - 2 1 1 TSPAN15|CCDS7294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSPAN15|CCDS7294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 5 7 5 17 15 17 15 7 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666881108 10 73209803 ATGTCT A 269 PASS CDH23 CCDS44429.1 r.? - - Del intronic D 73209803 73209811 5 12 265.181 - - 1 1 1 CDH23|CCDS44429.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH23|CCDS44429.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 5 3 12 18 12 18 5 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666885051 10 87318026 T TA 300 PASS - - - - - Ins - I 87318026 87318033 1 12 266.988 - - 6 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 3 2 4 4 16 20 16 21 4 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666886545 10 93357923 CAG C 480 PASS - - - - - Del - D 93357923 93357928 2 21 431.997 - - 2 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 6 2 6 3 21 20 21 20 6 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666898922 10 132133329 TCTC T 269 PASS - - - - - Del - D 132133329 132133336 3 12 263.977 - - 2 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 2 5 3 10 10 10 10 5 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666906008 11 17300260 C CT 509 PASS NUCB2 CCDS41623.1 r.? - - Ins intronic I 17300260 17300267 1 30 481.172 - - 6 1 1 NUCB2|CCDS41623.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NUCB2|CCDS41623.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 20 22 20 0 0 ./. 4 5 5 5 25 22 25 23 5 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666914430 11 40867585 TTC T 300 PASS - - - - - Del - D 40867585 40867589 2 6 267.92 - - 1 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 0 6 0 27 28 27 28 6 0 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666915246 11 43605136 TC T 360 PASS MIR129-2 ENST00000362207 r.? - - Del downstream D 43605136 43605140 1 12 321.384 - - 3 1 1 MIR129-2|ENST00000362207|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 MIR129-2|ENST00000362207|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 1 6 1 13 20 13 20 6 1 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666920234 11 61593751 TC T 294 PASS FADS2 CCDS8012.1 r.? - - Del upstream D 61593751 61593753 1 10 270.328 - - 1 1 1 FADS2|CCDS8012.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 FADS2|ENST00000257261|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 1 4 9 6 27 19 27 19 9 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666924989 11 74370870 TGG T 660 PASS - - - - - Del - D 74370870 74370874 2 40 594.722 - - 3 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 7 6 12 42 58 42 58 6 12 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666925461 11 75627164 CCTT C 689 PASS UVRAG CCDS8241.1 r.? - - Del intronic D 75627164 75627175 3 49 648.788 - - 3 1 1 UVRAG|CCDS8241.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UVRAG|CCDS8241.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 6 6 9 7 35 26 35 26 9 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666934059 11 104070308 A AT 600 PASS - - - - - Ins - I 104070308 104070317 1 36 534.636 - - 8 1 1 - - ./. 0 0 0 0 18 16 18 17 0 0 ./. 5 5 7 9 10 16 10 16 7 9 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666953278 12 28114538 T TA 360 PASS PTHLH CCDS8715.1 r.? - - Ins downstream I 28114538 28114543 1 7 320.008 - - 4 1 1 PTHLH|CCDS8715.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 PTHLH|CCDS44853.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 5 16 5 0 0 ./. 6 0 8 1 29 6 29 6 8 1 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666969613 12 77843458 T TA 300 PASS - - - - - Ins - I 77843458 77843467 1 12 267.175 - - 8 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 3 2 3 22 22 22 22 2 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666974217 12 93234634 ACTCTAAC A 290 PASS EEA1 CCDS31874.1 r.? - - Del intronic D 93234634 93234643 7 32 540.37 - - 1 1 1 EEA1|CCDS31874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EEA1|CCDS31874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 7 3 8 4 23 20 23 20 8 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666981569 12 114103332 CCA C 300 PASS - - - - - Del - D 114103332 114103349 2 12 268.981 - - 8 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 3 2 3 3 25 22 25 22 3 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666986914 12 126680758 C CA 420 PASS - - - - - Ins - I 126680758 126680768 1 18 352.973 - - 9 1 - - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 5 2 7 3 30 27 30 28 7 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666986922 12 126708077 AT A 300 PASS - - - - - Del - D 126708077 126708087 1 10 270.185 - - 9 1 1 - - ./. 0 0 0 0 15 25 15 25 0 0 ./. 1 4 3 5 16 22 16 22 3 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666995283 13 31658978 T TC 780 PASS - - - - - Ins - I 31658978 31658984 1 56 694.247 - - 5 1 1 - - ./. 0 0 0 0 19 11 19 12 0 0 ./. 6 7 11 10 30 26 31 27 11 10 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666995665 13 32574956 CT C 939 PASS - - - - - Del - D 32574956 32574959 1 154 1243.84 - - 2 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 13 10 17 16 29 36 29 36 17 16 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2666996281 13 33699440 CACT C 1283 PASS STARD13 CCDS9350.1 r.? - - Del intronic D 33699440 33699445 3 126 1345.09 - - 1 1 1 STARD13|CCDS9350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STARD13|CCDS9350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 5 20 25 32 38 58 39 59 26 33 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667001988 13 52693279 C CA 360 PASS NEK5 CCDS31979.1 r.? - - Ins intronic I 52693279 52693285 1 12 321.811 - - 5 1 1 NEK5|CCDS31979.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NEK5|CCDS31979.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 1 5 3 6 57 52 57 52 3 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667007016 13 69935667 TA T 300 PASS - - - - - Del - D 69935667 69935675 1 10 271.186 - - 7 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 1 4 6 5 11 8 11 8 6 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667009495 13 78485190 T TA 300 PASS EDNRB CCDS9461.1 r.? - - Ins intronic I 78485190 78485196 1 10 268.176 - - 5 1 1 EDNRB|CCDS9461.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EDNRB|CCDS9461.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 1 6 5 10 16 10 16 6 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667011978 13 87402625 G GT 420 PASS - - - - - Ins - I 87402625 87402635 1 20 374.242 - - 9 1 1 - - ./. 0 0 0 0 23 12 23 12 0 0 ./. 4 3 8 5 21 10 21 11 8 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667028367 14 39094264 ACCACCAACTGATCTTTGACAAAGTCAACAAAAATAAACAACAGGGAAAGTATACCCTATTAAATAAATGGTACTGAAAAAATTAGCTAGCCATACATAGAAAAATTGAAACTGGACCATCTCAAGATGAATTAATCCATCTTGAGATGG A 307 PASS - - - - - Del - D 39094264 39094414 149 36 596.808 - - 1 1 1 - - ./. 0 0 0 0 21 20 21 20 0 0 ./. 8 3 0 0 48 39 56 42 8 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667028712 14 39663624 A AC 300 PASS - - - - - Ins - I 39663624 39663625 1 10 264.052 - - 0 1 1 - - ./. 0 0 0 0 2 12 2 12 0 0 ./. 1 4 1 5 11 39 11 40 1 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667030987 14 47250707 T TA 660 PASS - - - - - Ins - I 47250707 47250715 1 40 590.185 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 7 5 14 13 20 13 20 5 14 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667033785 14 57157683 G GCAGACATCCGGTGA 286 PASS - - - - - Ins - I 57157683 57157684 14 32 451.642 - - 0 1 1 - - ./. 0 0 0 0 12 10 12 11 0 0 ./. 3 7 2 5 28 36 29 38 3 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667034776 14 59553748 AAT A 420 PASS - - - - - Del - D 59553748 59553752 2 20 379.787 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 3 5 7 12 13 12 13 5 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667046189 14 101575284 G GC 660 PASS - - - - - Ins - I 101575284 101575289 1 30 590.185 - - 4 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 9 4 12 11 15 11 15 4 12 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667060758 15 54761373 AT A 480 PASS UNC13C CCDS45264.1 r.? - - Del intronic D 54761373 54761380 1 24 434.128 - - 6 1 1 UNC13C|CCDS45264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC13C|CCDS45264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 5 4 9 17 18 17 18 4 9 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667073416 15 91616976 G GT 480 PASS - - - - - Ins - I 91616976 91616986 1 21 429.311 - - 9 1 1 - - ./. 0 0 0 0 18 12 18 13 0 0 ./. 2 6 3 8 20 20 20 20 3 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667074681 15 95312796 AG A 300 PASS - - - - - Del - D 95312796 95312800 1 6 271.33 - - 3 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 5 0 7 0 24 11 24 11 7 0 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667074832 15 95811624 G GGT 569 PASS - - - - - Ins - I 95811624 95811625 2 32 514.965 - - 0 1 1 - - ./. 0 0 0 0 17 6 17 6 0 0 ./. 3 7 0 0 27 20 27 20 3 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667086557 16 23861672 TA T 480 PASS PRKCB CCDS10619.1 r.? - - Del intronic D 23861672 23861681 1 25 433.526 - - 8 1 1 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 4 6 8 18 19 18 19 6 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667089261 16 30616855 AC A 540 PASS ZNF689 CCDS10686.1 r.? - - Del intronic D 30616855 30616861 1 28 487.717 - - 5 1 1 ZNF689|CCDS10686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF689|CCDS10686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 6 3 7 6 26 18 26 18 7 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667092859 16 46815941 G GA 540 PASS - - - - - Ins - I 46815941 46815943 1 30 476.88 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 5 6 5 24 16 24 16 6 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667108574 17 998227 AGCTT A 329 PASS ABR CCDS10999.1 r.? - - Del intronic D 998227 998232 4 16 324.72 - - 1 1 1 ABR|CCDS10999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABR|CCDS10999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 3 3 4 3 23 19 23 19 4 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667113071 17 10424119 AAC A 300 PASS MYH2 CCDS11156.1 r.? - - Del downstream D 10424119 10424123 2 12 270.6 - - 1 1 1 MYH2|CCDS11156.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 AC002347.1|ENST00000510453|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 3 3 7 18 15 18 15 3 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667115977 17 17780275 C CA 780 PASS TOM1L2 CCDS42270.1 r.? - - Ins intronic I 17780275 17780277 1 56 695.734 - - 1 1 1 TOM1L2|CCDS42270.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TOM1L2|CCDS42270.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 7 6 9 6 22 13 22 13 9 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667127390 17 48865017 G GT 389 PASS - - - - - Ins - I 48865017 48865027 1 20 368.003 - - 9 1 - - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 4 3 7 5 94 95 94 96 8 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667129794 17 54694003 GGAGT G 3033 PASS - - - - - Del - D 54694003 54694008 4 756 2864.75 - - 1 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 27 26 38 36 52 53 53 53 39 36 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667133371 17 58685455 CAT C 1080 PASS PPM1D CCDS11625.1 r.? - - Del intronic D 58685455 58685459 2 96 972.957 - - 1 1 1 PPM1D|CCDS11625.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPM1D|CCDS11625.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 11 7 12 8 128 123 128 123 12 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667135775 17 61899577 G GT 300 PASS DDX42 CCDS32704.1 r.? - - Ins downstream I 61899577 61899587 1 12 267.59 - - 9 1 1 DDX42|CCDS32704.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 FTSJ3|CCDS11644.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 2 4 7 97 75 98 75 4 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667144986 18 195142 TC T 420 PASS USP14 CCDS32780.1 r.? - - Del intronic D 195142 195144 1 20 379.609 - - 1 1 1 USP14|CCDS32780.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP14|CCDS32780.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 4 5 7 23 17 23 17 5 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667149755 18 13247959 C CCTT 358 PASS C18orf1 CCDS32793.1 r.? - - Ins intronic I 13247959 13247960 3 20 360.945 - - 0 1 1 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 10 9 0 0 ./. 3 4 2 1 24 27 25 27 5 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667152118 18 21733618 G GTTAC 418 PASS CABYR CCDS11881.1 r.? - - Ins intronic I 21733618 21733623 4 25 414.573 - - 1 1 1 CABYR|CCDS11881.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CABYR|CCDS11881.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 16 7 16 0 0 ./. 4 4 5 8 18 21 18 21 5 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667161032 18 49258872 AT A 660 PASS - - - - - Del - D 49258872 49258880 1 40 595.324 - - 7 1 1 - - ./. 0 0 0 0 8 25 8 25 0 0 ./. 4 7 7 10 19 32 19 32 7 10 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667161090 18 49505948 GA G 480 PASS - - - - - Del - D 49505948 49505950 1 25 433.839 - - 1 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 4 5 5 29 23 29 23 5 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667161567 18 50827152 AT A 780 PASS DCC CCDS11952.1 r.? - - Del intronic D 50827152 50827161 1 50 704.988 - - 8 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 9 4 13 7 27 17 27 17 13 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667168776 18 69428350 CTT C 989 PASS - - - - - Del - D 69428350 69428354 2 84 921.907 - - 3 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 6 11 11 13 21 23 21 23 11 13 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667177693 19 14769843 C CT 300 PASS EMR3 CCDS12315.1 r.? - - Ins intronic I 14769843 14769853 1 12 267.217 - - 9 1 1 EMR3|CCDS12315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EMR3|CCDS12315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 13 8 0 0 ./. 3 2 3 2 16 18 16 18 3 2 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667180183 19 19976512 CTCTT C 457 PASS ZNF90 CCDS42532.1 r.? - - Del upstream D 19976512 19976521 4 25 434.291 - - 2 1 1 ZNF90|CCDS42532.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 AC011477.2|ENST00000499171|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 4 4 4 20 16 20 16 4 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667186722 19 37857295 AGTTT A 900 PASS ZNF527 CCDS42559.1 r.? - - Del upstream D 37857295 37857308 4 66 814.295 - - 3 1 1 ZNF527|CCDS42559.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZNF527|CCDS42559.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 18 11 18 0 0 ./. 5 10 8 11 25 31 25 31 8 11 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667198825 2 5445885 GAAAGAAAGAAAGAAAGAAAGAA G 288 PASS - - - - - Del - D 5445885 5445909 22 12 269.085 - - 1 1 - - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 2 3 0 0 21 16 21 16 2 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667203010 2 18299751 AG A 720 PASS - - - - - Del - D 18299751 18299753 1 48 643.395 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 7 5 7 18 21 18 21 5 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667203275 2 19156896 G GA 420 PASS - - - - - Ins - I 19156896 19156903 1 20 372.504 - - 6 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 4 5 4 27 22 27 22 5 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667208895 2 35470379 GTC G 660 PASS - - - - - Del - D 35470379 35470386 2 42 591.986 - - 3 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 6 6 9 20 23 20 23 6 9 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667216657 2 58455066 G GA 540 PASS FANCL CCDS46294.1 r.? - - Ins intronic I 58455066 58455076 1 30 474.719 - - 9 1 1 FANCL|CCDS46294.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FANCL|CCDS46294.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 4 7 4 29 17 29 17 7 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667222107 2 76394686 GT G 360 PASS - - - - - Del - D 76394686 76394694 1 15 322.901 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 2 6 2 14 13 14 13 6 2 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667223343 2 80308568 TG T 420 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 80308568 80308573 1 20 376.718 - - 4 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 3 6 3 22 10 22 10 6 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667225824 2 88454080 C CA 658 PASS - - - - - Ins - I 88454080 88454087 1 48 638.578 - - 6 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 5 7 6 10 14 28 14 28 6 10 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667253885 2 181237270 G GA 360 PASS - - - - - Ins - I 181237270 181237277 1 7 319.289 - - 6 1 1 - - ./. 0 0 0 0 14 18 15 18 0 0 ./. 0 6 2 7 18 26 18 27 2 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667263479 2 211460794 TG T 720 PASS CPS1 CCDS2393.1 r.? - - Del intronic D 211460794 211460800 1 45 644.599 - - 5 1 1 CPS1|CCDS2393.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPS1|CCDS2393.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 8 4 9 5 24 15 24 15 9 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667272345 2 236979890 T TC 600 PASS AGAP1 CCDS33408.1 r.? - - Ins intronic I 236979890 236979893 1 36 532.148 - - 2 1 1 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 13 0 0 ./. 5 5 7 6 26 17 26 17 7 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667279682 20 13915421 G GT 360 PASS SEL1L2 CCDS42852.1 r.? - - Ins intronic I 13915421 13915431 1 12 322.164 - - 9 1 1 SEL1L2|CCDS42852.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SEL1L2|CCDS42852.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 7 18 7 0 0 ./. 5 1 6 5 28 20 29 20 6 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667297885 20 60297559 TC T 300 PASS CDH4 CCDS13488.1 r.? - - Del intronic D 60297559 60297566 1 12 271.48 - - 6 1 1 CDH4|CCDS13488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH4|CCDS13488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 2 4 3 21 28 21 28 4 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667306153 21 24793927 TA T 749 PASS - - - - - Del - D 24793927 24793934 1 50 704.364 - - 6 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 9 4 10 5 21 10 21 10 10 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667308925 21 32351494 CTTTG C 269 PASS - - - - - Del - D 32351494 32351503 4 10 272.299 - - 2 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 1 4 2 12 5 12 5 4 2 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667314156 21 47256853 GT G 540 PASS PCBP3 CCDS42974.2 r.? - - Del intronic D 47256853 47256859 1 28 487.729 - - 5 1 1 PCBP3|CCDS42974.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCBP3|CCDS42974.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 6 5 9 10 17 10 17 5 9 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667327050 22 48152671 AC A 300 PASS - - - - - Del - D 48152671 48152675 1 10 273.042 - - 3 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 1 4 6 5 18 20 18 20 6 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667334120 3 15142602 TG T 292 PASS ZFYVE20 CCDS2623.1 r.? - - Del upstream D 15142602 15142604 1 6 262.866 - - 1 1 - ZFYVE20|CCDS2623.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ZFYVE20|CCDS2623.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 0 8 0 164 160 164 160 8 0 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667335382 3 19301059 GC G 660 PASS KCNH8 CCDS2632.1 r.? - - Del intronic D 19301059 19301064 1 40 592.876 - - 4 1 1 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 7 8 12 16 25 16 25 8 12 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667338416 3 28821085 TGA T 660 PASS - - - - - Del - D 28821085 28821089 2 40 592.876 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 7 4 8 4 22 16 22 16 8 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667339939 3 33493697 CAG C 420 PASS - - - - - Del - D 33493697 33493704 2 18 377.285 - - 3 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 2 6 5 21 19 21 19 6 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667344925 3 49791376 AAATCAAAGCAAAATACAG A 290 PASS IP6K1 CCDS43092.1 r.? - - Del intronic D 49791376 49791397 18 35 536.57 - - 1 1 1 IP6K1|CCDS43092.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IP6K1|CCDS43092.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 4 6 4 18 16 18 16 6 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667349347 3 63175280 GT G 840 PASS - - - - - Del - D 63175280 63175284 1 63 754.57 - - 3 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 8 6 14 9 26 19 26 19 14 9 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667350023 3 65429744 G GT 420 PASS MAGI1 CCDS33781.1 r.? - - Ins intronic I 65429744 65429750 1 14 373.07 - - 5 1 1 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 1 6 1 8 19 23 20 24 1 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667360083 3 99575682 AGT A 480 PASS FILIP1L CCDS43118.1 r.? - - Del intronic D 99575682 99575685 2 24 431.183 - - 1 1 1 FILIP1L|CCDS43118.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FILIP1L|CCDS43118.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 5 3 6 5 16 24 16 24 6 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667361727 3 104611932 G GA 660 PASS - - - - - Ins - I 104611932 104611942 1 36 585.049 - - 9 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 3 8 6 13 27 28 27 28 6 13 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667364410 3 112720908 C CA 480 PASS C3orf17 CCDS33824.1 r.? - - Ins downstream I 112720908 112720917 1 25 426.366 - - 8 1 1 C3orf17|CCDS33824.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 C3orf17|CCDS33824.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 18 21 18 21 0 0 ./. 4 4 5 5 28 23 28 23 5 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667375406 3 147508383 GT G 600 PASS - - - - - Del - D 147508383 147508388 1 32 538.978 - - 4 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 7 3 9 7 26 18 26 18 9 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667379071 3 158974887 C CTA 480 PASS IQCJ CCDS46947.1 r.? - - Ins intronic I 158974887 158974891 2 25 421.55 - - 1 1 1 IQCJ|CCDS46947.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IQCJ|CCDS46947.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 13 12 0 0 ./. 4 4 5 6 19 20 20 20 5 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667379195 3 159707052 GGA G 600 PASS IL12A CCDS3187.1 r.? - - Del intronic D 159707052 159707059 2 27 538.978 - - 3 1 1 IL12A|CCDS3187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL12A|CCDS3187.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 8 2 9 2 27 14 27 14 9 2 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667380861 3 164924101 C CT 360 PASS - - - - - Ins - I 164924101 164924111 1 16 319.775 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 3 4 4 27 23 28 23 4 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667382758 3 171158651 CAGAA C 300 PASS TNIK CCDS46956.1 r.? - - Del intronic D 171158651 171158659 4 12 269.489 - - 1 1 1 TNIK|CCDS46956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNIK|CCDS46956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 2 4 2 20 13 20 13 4 2 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667385789 3 180256998 T TA 389 PASS - - - - - Ins - I 180256998 180257004 1 20 373.07 - - 5 1 1 - - ./. 0 0 0 0 19 15 21 15 0 0 ./. 3 4 5 7 16 21 17 21 5 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667392386 4 310230 C CA 360 PASS ENSG00000186777 ENST00000414523 r.? - - Ins intronic I 310230 310240 1 15 319.642 - - 9 1 1 ENSG00000186777|ENST00000414523|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENSG00000186777|ENST00000414523|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 4 2 5 3 23 32 24 32 5 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667393684 4 3783556 GGAA G 660 PASS - - - - - Del - D 3783556 3783562 3 40 592.634 - - 1 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 7 4 11 5 19 26 19 26 11 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667420109 4 82743040 T TA 300 PASS - - - - - Ins - I 82743040 82743049 1 10 266.369 - - 8 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 1 4 1 4 18 18 18 18 1 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667435192 4 130350217 TTTG T 389 PASS - - - - - Del - D 130350217 130350232 3 20 375.926 - - 4 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 4 3 4 13 25 13 25 3 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667435792 4 132424256 G GGT 509 PASS - - - - - Ins - I 132424256 132424257 2 30 468.627 - - 0 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 5 1 1 24 22 24 22 5 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667445855 4 162901106 C CA 600 PASS FSTL5 CCDS3802.1 r.? - - Ins intronic I 162901106 162901110 1 35 532.737 - - 3 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 21 7 21 0 0 ./. 4 6 4 7 15 21 15 22 4 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667458984 5 3216492 T TA 660 PASS - - - - - Ins - I 3216492 3216501 1 42 586.176 - - 8 1 1 - - ./. 0 0 0 0 19 21 20 21 0 0 ./. 6 5 8 5 36 27 36 27 8 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667459333 5 4047367 T TA 420 PASS - - - - - Ins - I 4047367 4047373 1 20 373.404 - - 5 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 4 3 5 4 29 32 29 32 5 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667460817 5 8094417 GC G 300 PASS - - - - - Del - D 8094417 8094419 1 10 269.728 - - 1 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 4 1 4 4 29 22 29 22 4 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667460883 5 8244925 TG T 300 PASS - - - - - Del - D 8244925 8244929 1 12 269.728 - - 3 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 3 2 5 2 30 18 30 18 5 2 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667463195 5 14381892 TA T 720 PASS TRIO CCDS3883.1 r.? - - Del intronic D 14381892 14381897 1 49 647.346 - - 4 1 1 TRIO|CCDS3883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIO|CCDS3883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 6 6 9 7 32 28 32 28 9 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667465721 5 20364375 GAC G 300 PASS CDH18 CCDS3652.1 r.? - - Del intronic D 20364375 20364395 2 10 269.728 - - 9 1 - CDH18|CCDS3652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CDH18|CCDS3652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 1 4 1 28 33 28 33 4 1 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667468243 5 27183420 TC T 300 PASS - - - - - Del - D 27183420 27183422 1 10 269.728 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 4 2 5 36 29 36 29 2 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667471466 5 34968984 T TA 360 PASS - - - - - Ins - I 34968984 34968993 1 16 319.459 - - 8 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 3 3 5 3 28 19 28 20 5 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667473469 5 40293817 TC T 300 PASS - - - - - Del - D 40293817 40293819 1 6 267.921 - - 1 1 - - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 0 10 0 27 22 27 22 10 0 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667474898 5 44576247 G GT 853 PASS - - - - - Ins - I 44576247 44576251 1 90 906.839 - - 3 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 8 9 8 9 23 30 23 30 8 9 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667478059 5 57974767 TG T 360 PASS RAB3C CCDS3976.1 r.? - - Del intronic D 57974767 57974769 1 15 323.673 - - 1 1 1 RAB3C|CCDS3976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB3C|CCDS3976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 4 2 4 12 12 12 12 2 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667483450 5 76386407 A AG 480 PASS ZBED3 CCDS4036.1 r.? - - Ins upstream I 76386407 76386408 1 24 426.748 - - 0 1 1 ZBED3|CCDS4036.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ZBED3|CCDS4036.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 5 4 6 19 16 19 16 4 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667492948 5 109097110 AT A 540 PASS MAN2A1 CCDS34209.1 r.? - - Del intronic D 109097110 109097116 1 24 483.703 - - 5 1 1 MAN2A1|CCDS34209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAN2A1|CCDS34209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 7 20 7 0 0 ./. 7 2 7 3 15 11 15 11 7 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667521578 6 15248667 T TGGGAGCGGGGGCGGGGGC 290 PASS JARID2 CCDS4533.1 r.? - - Ins intronic I 15248667 15248687 18 11 417.762 - - 1 1 1 JARID2|CCDS4533.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 JARID2|CCDS4533.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 3 11 3 0 0 ./. 10 0 5 0 48 15 52 15 11 0 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667521841 6 15757222 GCC G 941 PASS - - - - - Del - D 15757222 15757226 2 90 916.341 - - 3 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 8 9 11 12 37 43 37 43 11 12 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667525920 6 23417520 G GT 1287 PASS - - - - - Ins - I 23417520 23417522 1 136 1191.2 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 7 16 25 22 41 36 41 36 25 22 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667539977 6 57824425 TC T 495 PASS - - - - - Del - D 57824425 57824427 1 30 485.441 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 5 7 8 24 18 24 18 7 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667541525 6 66104905 AC A 420 PASS EYS CCDS47445.1 r.? - - Del intronic D 66104905 66104908 1 14 375.759 - - 2 1 1 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 1 7 3 27 15 27 15 7 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667541686 6 66429753 GT G 300 PASS - - - - - Del - D 66429753 66429758 1 12 269.689 - - 4 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 2 3 3 19 16 19 16 3 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667545675 6 78326207 A AT 449 PASS - - - - - Ins - I 78326207 78326216 1 21 426.686 - - 8 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 6 2 8 5 18 24 18 24 8 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667547301 6 83442320 TA T 689 PASS - - - - - Del - D 83442320 83442325 1 49 646.05 - - 4 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 6 6 7 6 22 22 22 22 7 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667556061 6 112165022 TA T 840 PASS FYN CCDS5095.1 r.? - - Del intronic D 112165022 112165025 1 55 755.13 - - 2 1 1 FYN|CCDS5095.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FYN|CCDS5095.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 10 4 11 4 24 10 24 10 11 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667562324 6 133163264 C CT 540 PASS - - - - - Ins - I 133163264 133163272 1 18 479.42 - - 7 1 1 - - ./. 0 0 0 0 15 13 16 14 0 0 ./. 1 8 2 9 16 22 16 22 2 9 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667566758 6 148735623 TA T 300 PASS SASH1 CCDS5212.1 r.? - - Del intronic D 148735623 148735627 1 12 269.689 - - 3 1 1 SASH1|CCDS5212.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SASH1|CCDS5212.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 3 2 3 12 16 12 16 2 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667578021 7 7369422 GA G 480 PASS - - - - - Del - D 7369422 7369426 1 21 425.264 - - 3 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 6 2 9 6 28 26 28 26 9 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667586605 7 31492667 G GT 1469 PASS - - - - - Ins - I 31492667 31492676 1 176 1331.58 - - 8 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 10 15 11 18 25 39 25 39 11 18 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667589489 7 39680188 G GT 780 PASS RALA CCDS5460.1 r.? - - Ins intronic I 39680188 39680196 1 56 693.988 - - 7 1 1 RALA|CCDS5460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RALA|CCDS5460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 7 6 8 8 29 25 29 25 8 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667592879 7 49594700 C CT 360 PASS - - - - - Ins - I 49594700 49594701 1 15 315.486 - - 0 1 1 - - ./. 0 0 0 0 3 9 3 10 0 0 ./. 2 4 0 0 26 23 27 23 2 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667611119 7 103075906 AC A 420 PASS SLC26A5 CCDS5733.1 r.? - - Del intronic D 103075906 103075908 1 14 377.9 - - 1 1 1 SLC26A5|CCDS5733.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC26A5|CCDS5733.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 6 1 8 4 19 11 19 11 8 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667618401 7 129477182 GT G 538 PASS UBE2H CCDS5814.1 r.? - - Del intronic D 129477182 129477186 1 36 539.858 - - 3 1 1 UBE2H|CCDS5814.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBE2H|CCDS5814.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 5 7 7 14 21 14 21 7 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667628486 8 2268668 AT A 323 PASS - - - - - Del - D 2268668 2268676 1 25 429.318 - - 7 1 1 - - ./. 0 0 0 0 24 22 24 22 0 0 ./. 4 4 4 5 28 24 28 24 4 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667632190 8 13788413 A AT 420 PASS - - - - - Ins - I 13788413 13788423 1 18 369.934 - - 9 1 1 - - ./. 0 0 0 0 32 17 32 17 0 0 ./. 5 2 7 3 18 13 18 13 7 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667638657 8 36272477 C CT 660 PASS - - - - - Ins - I 36272477 36272486 1 36 587.001 - - 8 1 1 - - ./. 0 0 0 0 16 10 16 11 0 0 ./. 8 3 10 3 18 6 18 6 10 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667640296 8 39194492 CCT C 900 PASS - - - - - Del - D 39194492 39194496 2 70 808.884 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 9 14 11 60 47 60 47 14 11 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667640309 8 39232939 ATAT A 387 PASS - - - - - Del - D 39232939 39232945 3 16 431.726 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 7 1 12 1 52 40 52 40 12 1 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667640335 8 39307124 CAG C 869 PASS - - - - - Del - D 39307124 39307128 2 70 808.282 - - 1 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 6 9 8 12 36 53 36 53 8 12 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667641906 8 42071511 CTTAA C 1895 PASS - - - - - Del - D 42071511 42071526 4 304 1780.27 - - 3 1 1 - - ./. 0 0 0 0 13 4 13 4 0 0 ./. 15 18 23 25 49 48 49 48 23 25 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667642559 8 43291414 TG T 420 PASS - - - - - Del - D 43291414 43291419 1 20 377.76 - - 4 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 4 7 7 32 32 32 32 7 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667649008 8 67618889 G GT 300 PASS C8orf44 CCDS6193.1 r.? - - Ins intronic I 67618889 67618899 1 12 260.196 - - 9 1 1 C8orf44|CCDS6193.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 C8orf44|CCDS6193.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 15 0 0 ./. 2 3 2 4 28 34 30 34 2 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667650892 8 73573267 AT A 300 PASS KCNB2 CCDS6209.1 r.? - - Del intronic D 73573267 73573277 1 12 269.829 - - 9 1 1 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 3 2 6 18 29 18 29 2 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667654063 8 83179083 GAAAAAATACAACTGACAATATGGAACCAATAAAAATA G 406 PASS - - - - - Del - D 83179083 83179126 37 63 754.317 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 6 8 0 0 36 34 39 38 6 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667654709 8 84914427 G GA 300 PASS - - - - - Ins - I 84914427 84914437 1 12 266.216 - - 9 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 3 2 3 2 50 38 51 38 3 2 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667655371 8 86990008 GAAC G 300 PASS - - - - - Del - D 86990008 86990023 3 12 269.829 - - 4 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 2 3 2 3 32 40 32 40 2 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667656056 8 88553853 TA T 660 PASS - - - - - Del - D 88553853 88553858 1 40 593.021 - - 4 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 4 7 6 7 24 34 24 34 6 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667657731 8 93689048 C CA 300 PASS - - - - - Ins - I 93689048 93689055 1 12 266.819 - - 6 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 2 4 3 38 38 38 38 4 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667659728 8 98378172 T TC 300 PASS - - - - - Ins - I 98378172 98378176 1 12 266.819 - - 3 1 1 - - ./. 0 0 0 0 17 10 17 11 0 0 ./. 2 3 3 3 40 35 41 35 3 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667661679 8 102629327 C CTTT 364 PASS GRHL2 CCDS34931.1 r.? - - Ins intronic I 102629327 102629336 3 24 416.073 - - 8 1 1 GRHL2|CCDS34931.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRHL2|CCDS34931.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 3 5 4 8 44 54 45 54 4 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667662819 8 104914860 CTT C 420 PASS RIMS2 ENST00000507740 r.? - - Del intronic D 104914860 104914863 2 20 377.76 - - 2 1 1 RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 4 7 5 32 36 32 36 7 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667663874 8 107563079 CCT C 420 PASS OXR1 CCDS47909.1 r.? - - Del intronic D 107563079 107563082 2 18 375.352 - - 1 1 1 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 2 5 4 41 44 41 44 5 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667667413 8 117329433 G GA 660 PASS AF130342.1 ENST00000505156 r.? - - Ins intronic I 117329433 117329442 1 42 586.399 - - 8 1 1 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 6 8 7 42 38 42 38 8 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667667614 8 117804546 TC T 269 PASS - - - - - Del - D 117804546 117804548 1 6 247.553 - - 1 1 - - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 0 5 0 7 31 50 31 50 0 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667669877 8 122888802 CAATGT C 449 PASS - - - - - Del - D 122888802 122888808 5 25 431.124 - - 1 1 - - - ./. 0 0 0 0 8 4 9 4 0 0 ./. 4 4 5 5 45 48 47 49 5 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667670146 8 123531410 CAGAG C 1676 PASS - - - - - Del - D 123531410 123531417 4 256 1618.97 - - 3 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 15 15 24 17 51 31 51 31 24 17 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667673857 8 131178797 TGTAG T 1107 PASS ASAP1 CCDS6362.1 r.? - - Del intronic D 131178797 131178804 4 120 1073.9 - - 1 1 1 ASAP1|CCDS6362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASAP1|CCDS6362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 11 9 12 13 45 62 45 62 12 13 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667673992 8 131475895 CCT C 720 PASS - - - - - Del - D 131475895 131475898 2 49 645.181 - - 1 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 6 6 8 6 46 38 46 38 8 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667678390 8 142322324 CTG C 840 PASS - - - - - Del - D 142322324 142322327 2 63 753.715 - - 1 1 1 - - ./. 0 0 0 0 12 4 12 4 0 0 ./. 8 6 10 8 28 29 28 29 10 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667678950 8 144280830 CATGCTGT C 290 PASS - - - - - Del - D 144280830 144280843 7 36 539.658 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 5 6 6 20 19 20 19 6 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667679463 8 146003712 CAG C 660 PASS ZNF34 CCDS47945.1 r.? - - Del intronic D 146003712 146003715 2 42 591.215 - - 1 1 1 ZNF34|CCDS47945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF34|CCDS47945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 6 7 7 19 20 19 20 7 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667688326 9 30192959 CTT C 449 PASS - - - - - Del - D 30192959 30192965 2 16 431.707 - - 5 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 7 1 10 5 50 60 50 60 10 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667688327 9 30196699 CCT C 1260 PASS - - - - - Del - D 30196699 30196702 2 120 1135.79 - - 1 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 7 14 9 14 55 57 55 57 9 14 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667688370 9 30275720 TGTG T 428 PASS - - - - - Del - D 30275720 30275726 3 60 757.594 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 9 5 11 41 64 42 64 6 11 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667688727 9 31112004 ACT A 540 PASS - - - - - Del - D 31112004 31112007 2 28 486.423 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 6 4 9 52 56 52 56 4 9 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667688729 9 31114669 TAG T 869 PASS - - - - - Del - D 31114669 31114673 2 52 809.902 - - 1 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 12 3 13 3 46 35 46 35 13 3 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667688733 9 31125047 ACT A 517 PASS - - - - - Del - D 31125047 31125051 2 28 483.412 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 3 5 4 36 55 37 55 6 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667696836 9 77447774 CT C 720 PASS TRPM6 CCDS6647.1 r.? - - Del intronic D 77447774 77447776 1 45 647.56 - - 1 1 1 TRPM6|CCDS6647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPM6|CCDS6647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 4 8 6 12 12 16 12 16 6 12 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667703942 9 103244485 TC T 420 PASS TMEFF1 CCDS6750.1 r.? - - Del intronic D 103244485 103244487 1 20 370.97 - - 1 1 1 TMEFF1|CCDS6750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEFF1|CCDS6750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 4 6 4 23 34 23 34 6 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667707271 9 112830798 T TTA 300 PASS PALM2-AKAP2 CCDS35100.1 r.? - - Ins intronic I 112830798 112830799 2 10 262.742 - - 0 1 1 PALM2-AKAP2|CCDS35100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PALM2-AKAP2|CCDS35100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 1 6 1 23 42 25 42 6 1 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667716815 9 139860191 A AAAAAACAAAC 290 PASS C9orf141 ENST00000371629 r.? - - Ins upstream I 139860191 139860197 10 35 452.636 - - 0 1 1 C9orf141|ENST00000371629|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 C9orf141|ENST00000371629|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 6 0 0 16 14 16 15 4 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667716955 9 140394362 GTGCGGAGGACTTCCAGAAAACACACACAGAACGGCTCAAGCCACCAGAGGCGAGAGCTGGGGTTAAACTGAACCCCAGGCTCCAGGAGATTCTGGACCTGACAGAGCAGAA G 319 PASS PNPLA7 CCDS48070.1 r.? - - Del intronic D 140394362 140394477 111 40 556.118 - - 1 1 1 PNPLA7|CCDS48070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PNPLA7|CCDS48070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 7 4 0 0 5 12 12 16 7 4 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667718525 X 6586041 A AT 689 PASS - - - - - Ins - I 6586041 6586046 1 49 642.679 - - 4 1 1 - - ./. 0 0 0 0 14 8 14 9 0 0 ./. 6 6 12 6 25 20 26 21 12 6 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667720261 X 14175853 TA T 746 PASS - - - - - Del - D 14175853 14175862 1 56 699.848 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 7 6 11 9 24 21 24 21 11 9 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667723513 X 27478340 C CT 389 PASS - - - - - Ins - I 27478340 27478347 1 18 374.896 - - 6 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 2 6 2 28 15 28 15 6 2 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667727892 X 45621189 TA T 540 PASS - - - - - Del - D 45621189 45621192 1 30 487.428 - - 2 1 1 - - ./. 0 0 0 0 6 20 6 20 0 0 ./. 4 5 5 7 20 21 20 21 5 7 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667731714 X 66662717 TTTTC T 660 PASS - - - - - Del - D 66662717 66662725 4 40 595.745 - - 1 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 7 4 8 5 21 19 21 19 8 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667734303 X 77698651 CA C 509 PASS - - - - - Del - D 77698651 77698653 1 30 487.428 - - 1 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 5 4 7 5 24 25 24 25 7 5 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667737376 X 89290296 A AG 300 PASS - - - - - Ins - I 89290296 89290297 1 12 259.354 - - 0 1 1 - - ./. 0 0 0 0 10 14 11 14 0 0 ./. 3 2 1 0 25 24 25 24 4 2 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667745552 X 124674272 C CA 420 PASS - - - - - Ins - I 124674272 124674282 1 14 374.896 - - 9 1 1 - - ./. 0 0 0 0 11 7 11 8 0 0 ./. 1 6 1 8 9 14 9 14 1 8 1 1 1 1 1 1 1 1 2579553 PD14466a PD14466b 2667750111 X 146142635 CAATGAGGCATTCTCA C 290 PASS - - - - - Del - D 146142635 146142652 15 27 541.586 - - 1 1 1 - - ./. 0 0 0 0 29 13 29 13 0 0 ./. 8 2 7 2 19 10 20 10 8 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667962008 1 17961 TG T 370 PASS - - - - - Del - D 17961 17964 1 11 532.44 - - 2 1 1 - - ./. 0 0 0 0 0 14 0 14 0 0 ./. 0 10 0 14 0 46 0 46 0 14 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667969841 1 23667870 TAC T 300 PASS HNRNPR CCDS232.1 r.? - - Del intronic D 23667870 23667876 2 12 268.628 - - 2 1 1 HNRNPR|CCDS232.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HNRNPR|CCDS232.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 3 5 10 11 10 11 3 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667975206 1 37105244 CTG C 600 PASS - - - - - Del - D 37105244 37105249 2 36 537.257 - - 2 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 5 9 6 25 27 25 27 9 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667975904 1 39184183 T TA 600 PASS - - - - - Ins - I 39184183 39184192 1 35 530.032 - - 8 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 4 8 6 31 34 31 34 8 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667977174 1 41489031 TG T 660 PASS SLFNL1 CCDS460.1 r.? - - Del upstream D 41489031 41489036 1 42 590.983 - - 4 1 1 SLFNL1|CCDS460.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 AL110502.1|ENST00000421714|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 6 6 7 28 21 28 21 6 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667977193 1 41523085 C CT 480 PASS SCMH1 CCDS30688.1 r.? - - Ins intronic I 41523085 41523095 1 25 412.948 - - 9 1 1 SCMH1|CCDS30688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCMH1|CCDS30688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 4 4 7 5 36 32 36 32 7 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667977931 1 43521315 G GA 480 PASS - - - - - Ins - I 43521315 43521316 1 21 424.989 - - 0 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 2 6 4 7 19 25 19 25 4 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667978764 1 45492987 CTGAT C 478 PASS ZSWIM5 CCDS41319.1 r.? - - Del intronic D 45492987 45492994 4 28 483.531 - - 1 1 1 ZSWIM5|CCDS41319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZSWIM5|CCDS41319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 6 3 8 6 29 37 29 37 8 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667979234 1 46229656 C CCA 447 PASS - - - - - Ins - I 46229656 46229657 2 24 436.57 - - 0 1 - - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 2 7 1 3 34 38 35 38 3 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667983978 1 59074048 A AT 389 PASS - - - - - Ins - I 59074048 59074055 1 18 370.661 - - 6 1 1 - - ./. 0 0 0 0 13 9 14 9 0 0 ./. 2 5 5 6 35 25 36 26 5 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667988629 1 71256565 ACTGT A 538 PASS - - - - - Del - D 71256565 71256572 4 36 536.655 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 5 6 6 25 24 25 24 6 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667989282 1 73493840 CA C 300 PASS - - - - - Del - D 73493840 73493847 1 12 268.026 - - 6 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 3 2 4 5 24 26 24 26 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667989437 1 73800413 GT G 360 PASS - - - - - Del - D 73800413 73800420 1 15 322.354 - - 6 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 2 6 4 24 26 24 26 6 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667991226 1 78778083 CA C 269 PASS PTGFR CCDS686.1 r.? - - Del intronic D 78778083 78778087 1 12 268.628 - - 3 1 1 PTGFR|CCDS686.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTGFR|CCDS686.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 3 6 16 24 16 24 3 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667991618 1 80037785 TATATACATATATATCACATATGATAGATGATACATATACATATATATCACATATGATAGATGATACATATACATATATATCACATATGATAGATGATACATATACATATATCACATATGATAGATGATAC T 337 PASS - - - - - Del - D 80037785 80037928 130 16 321.752 - - 1 1 - - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 3 3 0 0 23 1 25 4 3 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667997636 1 95482675 TAAA T 300 PASS ALG14 CCDS752.1 r.? - - Del intronic D 95482675 95482682 3 12 268.628 - - 6 1 1 ALG14|CCDS752.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALG14|CCDS752.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 2 5 3 22 12 22 12 5 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667998864 1 99198649 CA C 360 PASS SNX7 CCDS755.2 r.? - - Del intronic D 99198649 99198655 1 15 322.354 - - 5 1 1 SNX7|CCDS755.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX7|CCDS755.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 2 4 3 6 22 28 22 28 3 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667999650 1 101362180 CCT C 300 PASS SLC30A7 CCDS776.1 r.323_324delCU c.136_137delCT p.S47fs*28 Del frameshift D 101362180 101362187 2 10 265.016 - - 3 1 1 SLC30A7|CCDS776.1|r.323_324delCU|c.136_137delCT|p.S47fs*28|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SLC30A7|CCDS776.1|r.323_324delCU|c.136_137delCT|p.S47fs*28|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 1 6 5 26 29 26 29 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2667999729 1 101661977 TC T 300 PASS - - - - - Del - D 101661977 101661983 1 6 268.628 - - 5 1 1 - - ./. 0 0 0 0 22 8 22 8 0 0 ./. 5 0 7 2 52 29 52 29 7 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668001963 1 107975811 CT C 540 PASS NTNG1 CCDS44180.1 r.? - - Del intronic D 107975811 107975814 1 30 483.531 - - 2 1 1 NTNG1|CCDS44180.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTNG1|CCDS44180.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 11 20 11 0 0 ./. 5 4 5 6 26 23 26 23 5 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668002157 1 108534833 GA G 420 PASS - - - - - Del - D 108534833 108534841 1 20 376.08 - - 7 1 1 - - ./. 0 0 0 0 25 9 25 9 0 0 ./. 4 3 5 6 33 17 33 17 5 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668002247 1 108756513 TTAAG T 277 PASS - - - - - Del - D 108756513 108756523 4 15 322.354 - - 2 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 4 4 5 29 21 29 21 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668002468 1 109406685 CA C 660 PASS - - - - - Del - D 109406685 109406690 1 40 587.37 - - 4 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 7 4 10 5 24 30 24 30 10 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668002809 1 110040860 C CG 509 PASS CYB561D1 CCDS44188.1 r.2796_2797insg c.? p.? Ins 3'UTR variant I 110040860 110040866 1 24 476.306 - - 5 1 1 CYB561D1|CCDS44188.1|r.2796_2797insg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 CYB561D1|CCDS44188.1|r.2796_2797insg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 7 3 8 27 27 27 27 3 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668013015 1 153108757 CT C 360 PASS SPRR2B CCDS30865.1 r.? - - Del intronic D 153108757 153108760 1 16 322.354 - - 2 1 1 SPRR2B|CCDS30865.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SPRR2B|CCDS30865.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 23 15 23 0 0 ./. 3 3 3 4 21 23 21 23 3 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668014859 1 156953314 A AC 1500 PASS ARHGEF11 CCDS1163.1 r.? - - Ins intronic I 156953314 156953318 1 180 1326.28 - - 3 1 1 ARHGEF11|CCDS1163.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGEF11|CCDS1163.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 14 11 22 16 30 31 30 31 22 17 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668019415 1 168947235 CTT C 420 PASS - - - - - Del - D 168947235 168947240 2 8 374.876 - - 4 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 0 7 2 7 21 40 21 40 2 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668020957 1 173253166 GA G 1777 PASS AL022310.2 ENST00000421168 r.? - - Del intronic D 173253166 173253172 1 247 1603.94 - - 5 1 1 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 12 18 13 21 24 29 24 29 13 21 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668021994 1 175954481 T TA 720 PASS RFWD2 CCDS30944.1 r.? - - Ins intronic I 175954481 175954490 1 49 637.483 - - 8 1 1 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 6 9 7 31 32 31 32 9 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668024619 1 182686056 TAA T 780 PASS - - - - - Del - D 182686056 182686059 2 56 697.23 - - 2 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 6 7 7 8 27 29 27 29 7 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668024987 1 183376582 C CT 300 PASS NMNAT2 CCDS1353.1 r.? - - Ins intronic I 183376582 183376592 1 10 265.618 - - 9 1 1 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 18 12 18 0 0 ./. 1 4 1 4 32 31 33 33 1 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668025840 1 185912086 GA G 480 PASS HMCN1 CCDS30956.1 r.? - - Del intronic D 185912086 185912094 1 24 422.581 - - 7 1 1 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 3 5 4 6 30 30 30 30 4 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668026345 1 187409587 CT C 1320 PASS - - - - - Del - D 187409587 187409590 1 135 1180.76 - - 2 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 8 14 8 16 24 31 24 31 8 16 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668029007 1 194391663 AG A 360 PASS - - - - - Del - D 194391663 194391665 1 15 322.354 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 4 4 5 23 18 23 18 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668029591 1 196019070 CA C 480 PASS - - - - - Del - D 196019070 196019075 1 21 429.805 - - 4 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 2 8 3 25 18 25 18 8 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668029757 1 196572260 TCTA T 363 PASS KCNT2 CCDS1384.1 r.? - - Del intronic D 196572260 196572264 3 24 418.366 - - 1 1 1 KCNT2|CCDS1384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNT2|CCDS1384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 5 4 10 38 58 38 58 4 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668036761 1 215855453 AT A 480 PASS USH2A CCDS31025.1 r.? - - Del intronic D 215855453 215855455 1 24 429.805 - - 1 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 5 3 5 15 24 15 24 3 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668036803 1 216014997 ACAT A 1078 PASS USH2A CCDS31025.1 r.? - - Del intronic D 216014997 216015003 3 98 1018.38 - - 1 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 20 23 20 0 0 ./. 13 6 19 10 28 18 28 18 19 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668040255 1 227460625 CT C 780 PASS CDC42BPA CCDS1558.1 r.? - - Del intronic D 227460625 227460629 1 56 698.434 - - 3 1 1 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 6 7 8 9 18 23 18 23 8 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668041921 1 233549339 AT A 420 PASS - - - - - Del - D 233549339 233549349 1 18 374.274 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 2 7 4 24 23 24 23 7 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668042387 1 235056984 G GAA 300 PASS - - - - - Ins - I 235056984 235056987 2 10 262.608 - - 2 1 1 - - ./. 0 0 0 0 11 11 12 11 0 0 ./. 1 4 2 8 20 23 20 24 2 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668043150 1 236895695 TC T 1289 PASS ACTN2 CCDS1613.1 r.? - - Del intronic D 236895695 236895700 1 95 1181.97 - - 4 1 1 ACTN2|CCDS1613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACTN2|CCDS1613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 32 13 32 0 0 ./. 4 18 12 27 14 29 14 29 12 27 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668044503 1 240742122 G GA 300 PASS GREM2 CCDS31070.1 r.? - - Ins intronic I 240742122 240742131 1 12 265.618 - - 8 1 1 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 10 22 10 0 0 ./. 3 2 5 3 37 16 38 16 5 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668044794 1 241558280 G GC 360 PASS - - - - - Ins - I 241558280 241558288 1 16 310.915 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 3 3 4 17 22 18 22 3 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668050086 10 6886794 GA G 358 PASS - - - - - Del - D 6886794 6886797 1 20 377.973 - - 2 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 4 3 5 4 20 16 20 16 5 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668053254 10 15620282 CT C 540 PASS ITGA8 CCDS31155.1 r.? - - Del intronic D 15620282 15620287 1 28 485.966 - - 4 1 1 ITGA8|CCDS31155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGA8|CCDS31155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 3 8 5 13 7 13 7 8 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668055872 10 24690463 TAAC T 569 PASS KIAA1217 CCDS31165.1 r.? - - Del intronic D 24690463 24690472 3 32 539.962 - - 2 1 1 KIAA1217|CCDS31165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1217|CCDS31165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 7 3 9 3 21 10 21 10 9 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668060296 10 36809075 GA G 300 PASS NAMPTL ENST00000440465 r.? - - Del downstream D 36809075 36809077 1 12 269.981 - - 1 1 1 NAMPTL|ENST00000440465|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NAMPTL|ENST00000440465|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 4 3 14 10 14 10 4 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668065183 10 54813647 GT G 540 PASS - - - - - Del - D 54813647 54813654 1 28 485.966 - - 6 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 3 6 4 7 16 9 16 9 4 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668065738 10 56459291 T TG 600 PASS PCDH15 CCDS44404.1 r.? - - Ins intronic I 56459291 56459293 1 32 533.941 - - 1 1 1 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 7 3 8 3 15 11 15 11 8 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668069413 10 67522826 AT A 480 PASS - - - - - Del - D 67522826 67522835 1 25 419.928 - - 8 1 1 - - ./. 0 0 0 0 13 4 13 4 0 0 ./. 4 4 5 4 11 12 11 12 5 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668072591 10 77114492 CA C 300 PASS - - - - - Del - D 77114492 77114502 1 12 269.981 - - 9 1 - - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 2 7 5 12 16 12 16 7 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668075115 10 86599534 AT A 540 PASS - - - - - Del - D 86599534 86599544 1 24 484.761 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 7 3 7 15 18 15 18 3 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668075454 10 88043684 TG T 569 PASS GRID1 CCDS31236.1 r.? - - Del intronic D 88043684 88043686 1 35 536.951 - - 1 1 1 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 5 17 5 0 0 ./. 4 6 5 7 15 16 15 16 5 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668084856 10 120492831 AT A 420 PASS C10orf46 CCDS41570.1 r.? - - Del intronic D 120492831 120492835 1 20 377.371 - - 3 1 1 C10orf46|CCDS41570.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf46|CCDS41570.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 3 6 6 14 18 14 18 6 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668085735 10 123134267 T TC 300 PASS - - - - - Ins - I 123134267 123134275 1 10 266.971 - - 7 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 1 9 3 15 15 15 17 9 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668087062 10 127426049 CA C 329 PASS C10orf137 CCDS7646.1 r.? - - Del intronic D 127426049 127426051 1 16 323.977 - - 1 1 1 C10orf137|CCDS7646.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf137|CCDS7646.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 3 3 3 9 12 9 12 3 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668088819 10 132830492 TCTGG T 720 PASS - - - - - Del - D 132830492 132830501 4 33 647.954 - - 2 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 10 2 12 4 23 18 23 18 12 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668089107 10 133864930 T TG 300 PASS - - - - - Ins - I 133864930 133864938 1 10 236.868 - - 7 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 1 4 1 7 8 18 8 18 1 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668091903 11 8491915 GA G 300 PASS STK33 CCDS7789.1 r.? - - Del intronic D 8491915 8491920 1 10 269.161 - - 4 1 1 STK33|CCDS7789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK33|CCDS7789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 1 4 2 6 13 10 13 10 2 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668095557 11 22103301 T TG 420 PASS - - - - - Ins - I 22103301 22103302 1 18 374.296 - - 0 1 1 - - ./. 0 0 0 0 13 11 13 12 0 0 ./. 5 2 6 2 21 11 21 13 6 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668098275 11 32190740 CG C 900 PASS - - - - - Del - D 32190740 32190743 1 72 811.094 - - 2 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 7 8 7 9 17 22 17 22 7 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668099254 11 35345857 CT C 840 PASS SLC1A2 CCDS31459.1 r.? - - Del intronic D 35345857 35345859 1 63 756.419 - - 1 1 1 SLC1A2|CCDS31459.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC1A2|CCDS31459.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 8 7 10 23 13 23 13 7 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668100512 11 40115519 T TA 540 PASS - - - - - Ins - I 40115519 40115520 1 30 480.636 - - 0 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 5 4 9 11 14 11 14 4 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668100945 11 41882297 T TTA 629 PASS - - - - - Ins - I 41882297 41882309 2 42 581.557 - - 5 1 1 - - ./. 0 0 0 0 15 8 16 8 0 0 ./. 6 5 10 8 15 14 15 15 10 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668105224 11 58233400 GC G 300 PASS - - - - - Del - D 58233400 58233402 1 10 270.365 - - 1 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 4 1 8 1 29 6 29 6 8 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668107400 11 63354911 ATAT A 1227 PASS PLA2G16 CCDS8047.1 r.? - - Del intronic D 63354911 63354919 3 140 1179.97 - - 2 1 1 PLA2G16|CCDS8047.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLA2G16|CCDS8047.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 9 13 12 17 38 50 38 50 12 17 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668107964 11 64275513 C CT 1078 PASS - - - - - Ins - I 64275513 64275514 1 68 1011.73 - - 0 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 16 7 18 17 30 17 30 7 18 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668108433 11 65193972 CAAAT C 987 PASS - - - - - Del - D 65193972 65193980 4 91 973.313 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 12 6 14 6 52 46 52 46 14 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668108466 11 65238192 CAGG C 269 PASS - - - - - Del - D 65238192 65238198 3 12 267.354 - - 1 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 2 3 3 27 20 27 20 3 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668110716 11 69709589 AG A 540 PASS - - - - - Del - D 69709589 69709591 1 30 486.656 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 4 6 7 33 22 33 22 6 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668111506 11 71657162 AG A 360 PASS RNF121 CCDS8203.1 r.? - - Del intronic D 71657162 71657164 1 7 320.223 - - 1 1 - RNF121|CCDS8203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF121|CCDS8203.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 0 6 0 6 47 60 47 60 0 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668117502 11 89381106 TC T 420 PASS - - - - - Del - D 89381106 89381110 1 20 378.511 - - 3 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 4 4 5 14 16 14 16 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668119138 11 95549144 CT C 360 PASS CEP57 CCDS8304.1 r.? - - Del intronic D 95549144 95549153 1 15 324.438 - - 8 1 1 CEP57|CCDS8304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CEP57|CCDS8304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 4 3 5 35 33 35 33 3 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668119389 11 96059301 TGTCCT TCTCG 387 PASS MAML2 CCDS44714.1 r.? - - Complex intronic DI 96059302 96059306 5 24 0 - - 0 1 1 MAML2|CCDS44714.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 MAML2|CCDS44714.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 5 0 0 12 17 12 17 3 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668119420 11 96124250 AT A 600 PASS JRKL CCDS8308.1 r.1094delU c.438delT p.N146fs*47 Del frameshift D 96124250 96124252 1 20 540.729 - - 1 1 1 JRKL|CCDS8308.1|r.1094delU|c.438delT|p.N146fs*47|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 JRKL|CCDS8308.1|r.1094delU|c.438delT|p.N146fs*47|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 20 11 20 11 0 0 ./. 1 9 3 9 26 35 26 35 3 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668119914 11 97855962 GA G 480 PASS - - - - - Del - D 97855962 97855964 1 21 432.583 - - 1 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 6 2 9 3 23 20 23 20 9 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668120777 11 99968701 GT G 540 PASS CNTN5 ENST00000279463 r.? - - Del intronic D 99968701 99968711 1 28 486.656 - - 9 1 1 CNTN5|ENST00000279463|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN5|ENST00000279463|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 6 3 6 8 11 8 11 3 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668121062 11 101000554 GCTTT G 389 PASS PGR CCDS8310.1 r.? - - Del upstream D 101000554 101000561 4 20 377.306 - - 1 1 1 PGR|CCDS8310.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PGR|CCDS8310.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 4 4 4 12 10 12 10 4 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668123301 11 109155232 TA T 607 PASS - - - - - Del - D 109155232 109155242 1 40 594.802 - - 9 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 7 4 7 10 13 10 13 4 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668125120 11 116762963 GA G 1349 PASS SIK3 CCDS8379.1 r.? - - Del intronic D 116762963 116762969 1 154 1243.68 - - 5 1 1 SIK3|CCDS8379.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SIK3|CCDS8379.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 10 13 14 17 16 18 16 18 14 17 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668128749 11 130528072 G GA 290 PASS - - - - - Ins - I 130528072 130528081 1 12 267.354 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 14 0 0 ./. 3 2 4 5 16 8 16 8 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668129100 11 132449005 GA G 360 PASS ENSG00000183715 CCDS8492.1 r.? - - Del intronic D 132449005 132449007 1 15 324.438 - - 1 1 1 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 4 2 6 11 18 11 18 2 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668136268 12 20322789 A AT 613 PASS - - - - - Ins - I 20322789 20322799 1 42 583.682 - - 9 1 1 - - ./. 0 0 0 0 21 20 22 20 0 0 ./. 6 5 9 6 23 15 23 15 9 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668139005 12 28909671 GT G 660 PASS - - - - - Del - D 28909671 28909676 1 36 594.519 - - 4 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 8 4 11 15 20 15 20 4 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668141403 12 38833558 AT A 360 PASS - - - - - Del - D 38833558 38833568 1 16 323.079 - - 9 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 3 3 3 5 15 16 15 16 3 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668142024 12 41187187 CAG C 454 PASS - - - - - Del - D 41187187 41187191 2 35 540.472 - - 1 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 6 4 8 11 19 11 19 4 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668148422 12 62569703 T TA 362 PASS - - - - - Ins - I 62569703 62569713 1 24 427.561 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 3 7 6 18 13 18 13 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668148665 12 63462515 G GT 389 PASS - - - - - Ins - I 63462515 63462524 1 18 374.116 - - 8 1 1 - - ./. 0 0 0 0 20 9 20 10 0 0 ./. 2 5 6 5 18 15 19 15 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668149612 12 66599405 GC G 300 PASS IRAK3 CCDS8975.1 r.? - - Del intronic D 66599405 66599407 1 12 270.236 - - 1 1 1 IRAK3|CCDS8975.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IRAK3|CCDS8975.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 5 2 19 7 19 7 5 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668149987 12 67556968 CA C 1860 PASS - - - - - Del - D 67556968 67556970 1 272 1673.06 - - 1 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 15 16 19 20 28 29 28 29 19 20 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668150472 12 69009574 TAC T 540 PASS RAP1B CCDS8984.1 r.? - - Del intronic D 69009574 69009586 2 28 486.425 - - 5 1 - RAP1B|CCDS8984.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RAP1B|CCDS8984.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 6 3 17 5 40 19 40 19 17 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668151906 12 72519385 TG T 749 PASS - - - - - Del - D 72519385 72519387 1 50 701.41 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 9 7 9 29 23 29 23 7 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668152749 12 75266976 TC T 720 PASS - - - - - Del - D 75266976 75266978 1 45 648.567 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 8 7 13 24 31 24 31 7 13 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668152779 12 75385264 ACCAC A 654 PASS - - - - - Del - D 75385264 75385269 4 64 754.855 - - 1 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 7 7 16 9 28 15 28 15 16 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668153462 12 77131486 A AG 600 PASS - - - - - Ins - I 77131486 77131487 1 32 532.043 - - 0 1 - - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 7 4 9 19 40 19 41 4 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668155621 12 83371762 ATTT A 569 PASS TMTC2 CCDS9025.1 r.? - - Del intronic D 83371762 83371770 3 27 540.472 - - 7 1 1 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 8 5 8 26 28 26 28 5 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668156871 12 87097766 GTT G 1320 PASS - - - - - Del - D 87097766 87097771 2 140 1189.04 - - 4 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 13 9 17 12 24 18 24 18 17 12 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668157137 12 87824658 T TA 780 PASS - - - - - Ins - I 87824658 87824664 1 50 694.787 - - 5 1 1 - - ./. 0 0 0 0 15 19 15 20 0 0 ./. 4 9 5 15 15 45 15 46 5 15 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668158404 12 91831966 T TAG 420 PASS - - - - - Ins - I 91831966 91831970 2 18 369.902 - - 1 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 5 4 7 26 33 26 33 4 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668163127 12 103560480 TTTTC T 449 PASS - - - - - Del - D 103560480 103560491 4 25 431.776 - - 2 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 4 5 6 32 24 32 24 5 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668168115 12 116719976 GAAGA G 480 PASS MED13L CCDS9177.1 r.? - - Del upstream D 116719976 116719987 4 24 432.378 - - 2 1 1 MED13L|CCDS9177.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 MED13L|CCDS9177.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 3 7 7 37 33 37 33 7 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668169697 12 120085586 A AC 269 PASS - - - - - Ins - I 120085586 120085594 1 6 267.226 - - 7 1 1 - - ./. 0 0 0 0 6 21 6 22 0 0 ./. 0 5 3 4 17 22 17 22 3 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668171206 12 122644201 TAC T 300 PASS - - - - - Del - D 122644201 122644218 2 10 270.236 - - 8 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 4 1 4 29 43 29 43 1 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668172602 12 125182490 TTG T 300 PASS - - - - - Del - D 125182490 125182496 2 6 270.236 - - 2 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 5 0 6 1 25 14 25 14 6 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668172909 12 125740540 C CT 360 PASS - - - - - Ins - I 125740540 125740550 1 12 320.671 - - 9 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 1 5 4 7 24 46 25 46 4 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668173516 12 127435120 AT A 480 PASS AC078878.2 ENST00000512624 r.? - - Del intronic D 127435120 127435122 1 21 429.97 - - 1 1 1 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 2 8 3 33 27 33 27 8 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668174002 12 128411421 GA G 329 PASS - - - - - Del - D 128411421 128411424 1 15 324.283 - - 2 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 2 4 3 4 8 30 8 30 3 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668174173 12 128772349 G GT 360 PASS - - - - - Ins - I 128772349 128772357 1 15 320.671 - - 7 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 2 4 4 4 31 27 31 27 4 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668174426 12 129362946 TA T 420 PASS GLT1D1 CCDS9265.1 r.? - - Del intronic D 129362946 129362949 1 18 378.331 - - 2 1 1 GLT1D1|CCDS9265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLT1D1|CCDS9265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 17 24 17 0 0 ./. 5 2 6 2 32 12 32 12 6 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668175434 12 131626483 CAG C 540 PASS GPR133 CCDS9272.1 r.? - - Del downstream D 131626483 131626488 2 24 486.425 - - 2 1 1 GPR133|CCDS9272.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 GPR133|CCDS9272.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 11 10 11 10 0 0 ./. 7 2 10 3 36 18 36 18 10 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668181193 13 29087622 CTCTT C 269 PASS - - - - - Del - D 29087622 29087636 4 12 270.256 - - 3 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 3 4 4 24 22 24 22 4 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668182472 13 32305369 C CG 480 PASS - - - - - Ins - I 32305369 32305376 1 24 426.147 - - 6 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 5 4 8 20 20 20 20 4 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668188323 13 48818846 GGTTT G 778 PASS ITM2B CCDS9409.1 r.? - - Del intronic D 48818846 48818854 4 60 758.401 - - 1 1 1 ITM2B|CCDS9409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITM2B|CCDS9409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 5 9 5 10 15 30 15 30 5 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668190396 13 55641577 CCTTTATT C 348 PASS - - - - - Del - D 55641577 55641587 7 13 650.058 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 0 12 1 14 14 22 14 22 1 14 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668190797 13 56669100 TA T 509 PASS - - - - - Del - D 56669100 56669104 1 30 486.942 - - 3 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 5 4 6 7 16 23 16 23 6 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668194167 13 66272139 AAATAT A 449 PASS - - - - - Del - D 66272139 66272151 5 24 433.372 - - 2 1 - - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 5 3 7 6 21 6 21 3 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668194879 13 68735369 AT A 360 PASS - - - - - Del - D 68735369 68735379 1 15 325.029 - - 9 1 1 - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 2 4 2 6 8 14 8 14 2 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668200081 13 83601056 AT A 420 PASS - - - - - Del - D 83601056 83601061 1 18 379.201 - - 4 1 1 - - ./. 0 0 0 0 23 12 23 12 0 0 ./. 2 5 3 7 12 22 12 22 3 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668201468 13 87781625 AC A 360 PASS - - - - - Del - D 87781625 87781627 1 7 325.029 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 6 0 10 1 33 9 33 9 10 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668201494 13 87894806 TA T 600 PASS - - - - - Del - D 87894806 87894810 1 32 541.715 - - 3 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 7 3 9 20 31 20 31 3 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668202104 13 89829695 AC A 720 PASS - - - - - Del - D 89829695 89829697 1 45 650.058 - - 1 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 8 4 8 4 22 13 22 13 8 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668205908 13 100209791 G GT 300 PASS TM9SF2 CCDS9493.1 r.? - - Ins intronic I 100209791 100209801 1 12 266.643 - - 9 1 1 TM9SF2|CCDS9493.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TM9SF2|CCDS9493.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 2 3 2 3 22 31 22 31 2 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668206609 13 101979923 GC G 780 PASS NALCN CCDS9498.1 r.? - - Del intronic D 101979923 101979926 1 56 704.23 - - 2 1 1 NALCN|CCDS9498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NALCN|CCDS9498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 6 7 9 13 17 25 17 25 9 13 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668206654 13 102102071 TA T 600 PASS ITGBL1 CCDS9499.1 r.? - - Del upstream D 102102071 102102074 1 32 541.715 - - 2 1 1 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 12 12 12 0 0 ./. 7 3 9 6 20 20 20 20 9 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668211044 14 19119500 TA T 296 PASS - - - - - Del - D 19119500 19119506 1 24 433.511 - - 5 1 1 - - ./. 0 0 0 0 29 29 29 29 0 0 ./. 3 5 4 9 29 42 29 42 4 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668212518 14 22636199 C CT 420 PASS TRAC ENST00000446346 r.? - - Ins intronic I 22636199 22636201 1 18 375.108 - - 1 1 1 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 9 0 0 ./. 5 2 5 9 20 28 20 28 5 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668214819 14 30458560 CT C 480 PASS - - - - - Del - D 30458560 30458565 1 24 431.705 - - 4 1 1 - - ./. 0 0 0 0 15 23 15 23 0 0 ./. 5 3 7 6 16 18 16 18 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668218634 14 39132969 CCT C 300 PASS - - - - - Del - D 39132969 39132986 2 12 269.74 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 4 3 31 31 31 31 4 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668221036 14 47806444 TGTAA T 658 PASS MDGA2 CCDS41948.1 r.? - - Del intronic D 47806444 47806452 4 40 650.266 - - 1 1 1 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 9 3 12 5 36 27 36 27 12 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668221050 14 47843258 TC T 600 PASS MDGA2 CCDS45098.1 r.? - - Del intronic D 47843258 47843260 1 36 541.889 - - 1 1 1 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 5 5 7 6 26 36 26 36 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668221468 14 49690263 CA C 540 PASS - - - - - Del - D 49690263 49690272 1 24 487.7 - - 8 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 7 2 10 32 61 32 61 2 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668222588 14 51747537 C CT 420 PASS - - - - - Ins - I 51747537 51747546 1 18 375.108 - - 8 1 - - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 2 7 3 26 21 26 21 7 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668222836 14 52581701 TTC T 377 PASS - - - - - Del - D 52581701 52581715 2 8 372.097 - - 6 1 1 - - ./. 0 0 0 0 8 13 9 13 0 0 ./. 7 0 7 0 19 18 19 18 9 0 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668222970 14 53020521 AGG A 449 PASS TXNDC16 CCDS32083.1 r.? - - Del upstream D 53020521 53020527 2 24 432.909 - - 5 1 1 TXNDC16|CCDS32083.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 GPR137C|CCDS45106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 3 9 5 31 19 31 19 9 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668225046 14 58986392 GTGA G 447 PASS KIAA0586 CCDS45115.1 r.? - - Del intronic D 58986392 58986397 3 28 487.7 - - 1 1 1 KIAA0586|CCDS45115.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0586|CCDS45115.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 6 4 7 43 39 43 39 4 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668226133 14 61616812 C CTTCTTTTCTTCCTTTCCCTCTCTTTCTTTTTCTTTCTTCT 360 PASS - - - - - Ins - I 61616812 61616827 40 15 180.639 - - 0 1 1 - - ./. 0 0 0 0 10 13 11 13 0 0 ./. 2 4 0 0 48 43 48 45 2 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668227704 14 65703389 CTG C 360 PASS - - - - - Del - D 65703389 65703394 2 15 325.133 - - 2 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 2 6 3 24 23 24 23 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668229159 14 71622802 T TCTC 424 PASS - - - - - Ins - I 71622802 71622803 3 10 425.688 - - 0 1 - - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 9 0 10 0 23 20 26 21 12 0 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668229581 14 72962338 G GTC 720 PASS RGS6 CCDS9808.1 r.? - - Ins intronic I 72962338 72962345 2 48 635.817 - - 3 1 1 RGS6|CCDS9808.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RGS6|CCDS9808.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 7 5 10 5 26 23 26 23 10 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668233176 14 83359277 CA C 660 PASS - - - - - Del - D 83359277 83359287 1 36 594.271 - - 9 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 8 3 12 8 23 18 23 18 12 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668233298 14 83769249 A AC 360 PASS - - - - - Ins - I 83769249 83769250 1 7 317.909 - - 0 1 - - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 0 6 2 11 14 27 15 28 2 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668233516 14 84547063 A AT 840 PASS - - - - - Ins - I 84547063 84547072 1 63 748.409 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 13 0 0 ./. 6 8 8 13 14 22 15 23 8 13 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668234389 14 87599398 GACC G 747 PASS - - - - - Del - D 87599398 87599403 3 55 758.644 - - 1 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 10 4 15 7 18 9 18 9 15 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668234631 14 88554180 GCATA G 358 PASS - - - - - Del - D 88554180 88554188 4 20 379.322 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 3 5 4 20 12 20 12 5 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668236428 14 93761192 C CT 960 PASS BTBD7 CCDS32146.1 r.499_500insa c.173_174insA p.R59fs*14 Ins frameshift I 93761192 93761201 1 65 855.583 - - 8 1 1 BTBD7|CCDS32146.1|r.499_500insa|c.173_174insA|p.R59fs*14|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 BTBD7|CCDS32146.1|r.499_500insa|c.173_174insA|p.R59fs*14|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 17 6 17 6 0 0 ./. 12 4 20 7 30 11 31 11 20 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668237599 14 98015524 TTATC T 1676 PASS - - - - - Del - D 98015524 98015534 4 256 1625.67 - - 2 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 15 15 17 19 20 24 20 24 17 19 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668237884 14 98901175 CA C 300 PASS - - - - - Del - D 98901175 98901177 1 10 270.944 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 1 4 1 24 24 24 24 4 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668243727 15 26056464 CTT C 540 PASS ATP10A CCDS32178.1 r.? - - Del intronic D 26056464 26056469 2 24 488.117 - - 4 1 1 ATP10A|CCDS32178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP10A|CCDS32178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 7 4 7 13 18 13 18 4 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668246297 15 33698963 GT G 840 PASS RYR3 CCDS45210.1 r.? - - Del intronic D 33698963 33698972 1 63 759.294 - - 8 1 1 RYR3|CCDS45210.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR3|CCDS45210.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 8 6 9 9 26 24 26 24 9 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668249755 15 42788914 C CA 360 PASS SNAP23 CCDS10087.1 r.? - - Ins intronic I 42788914 42788924 1 15 321.799 - - 9 1 1 SNAP23|CCDS10087.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SNAP23|CCDS10087.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 2 4 4 17 27 18 27 4 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668250768 15 45676463 G GT 660 PASS AC025580.2 ENST00000458245 r.? - - Ins intronic I 45676463 45676470 1 40 588.159 - - 6 1 1 AC025580.2|ENST00000458245|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC025580.2|ENST00000458245|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 7 4 8 5 25 28 25 29 8 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668250910 15 46104985 G GA 300 PASS - - - - - Ins - I 46104985 46104995 1 12 267.564 - - 9 1 1 - - ./. 0 0 0 0 13 11 14 11 0 0 ./. 3 2 3 5 27 21 27 21 3 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668253521 15 53728491 G GT 1020 PASS - - - - - Ins - I 53728491 53728494 1 60 910.561 - - 2 1 1 - - ./. 0 0 0 0 17 8 18 8 0 0 ./. 14 3 14 4 23 12 23 12 14 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668254917 15 57615423 TG T 720 PASS - - - - - Del - D 57615423 57615425 1 40 650.823 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 9 3 11 4 28 20 28 20 11 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668256807 15 62684066 T TGCCC 327 PASS - - - - - Ins - I 62684066 62684072 4 14 360.381 - - 1 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 6 1 7 1 24 18 24 18 7 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668257679 15 64727567 CAA C 298 PASS TRIP4 CCDS10194.1 r.? - - Del intronic D 64727567 64727576 2 16 325.412 - - 8 1 1 TRIP4|CCDS10194.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIP4|CCDS10194.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 3 2 4 19 14 20 14 3 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668259326 15 68410672 A AT 300 PASS PIAS1 CCDS45290.1 r.? - - Ins intronic I 68410672 68410673 1 12 263.952 - - 0 1 1 PIAS1|CCDS45290.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PIAS1|CCDS45290.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 4 10 4 0 0 ./. 3 2 4 2 19 27 19 27 4 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668263435 15 80324977 GTA G 300 PASS - - - - - Del - D 80324977 80324982 2 12 266.36 - - 2 1 - - - ./. 0 0 0 0 7 3 7 3 0 0 ./. 2 3 4 9 14 21 14 21 4 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668264022 15 82232934 T TG 540 PASS - - - - - Ins - I 82232934 82232940 1 28 482.699 - - 5 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 6 3 6 15 22 15 22 3 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668264336 15 83597382 GGTTA G 836 PASS HOMER2 CCDS45334.1 r.? - - Del intronic D 83597382 83597390 4 81 867.764 - - 1 1 1 HOMER2|CCDS45334.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HOMER2|CCDS45334.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 8 8 8 8 21 23 21 23 8 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668274990 16 8170000 TC T 337 PASS - - - - - Del - D 8170000 8170002 1 12 325.182 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 5 3 10 27 50 27 50 3 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668275969 16 9924778 GT G 749 PASS GRIN2A CCDS10539.1 r.? - - Del intronic D 9924778 9924786 1 56 704.561 - - 7 1 1 GRIN2A|CCDS10539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIN2A|CCDS10539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 7 6 9 9 37 28 37 28 9 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668279611 16 17816765 TAA T 540 PASS - - - - - Del - D 17816765 17816770 2 30 487.773 - - 4 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 4 5 5 34 23 34 23 5 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668281003 16 21049610 GC G 600 PASS DNAH3 CCDS10594.1 r.? - - Del intronic D 21049610 21049613 1 35 540.164 - - 2 1 1 DNAH3|CCDS10594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH3|CCDS10594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 6 6 9 32 30 32 30 6 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668282578 16 24710045 G GT 360 PASS - - - - - Ins - I 24710045 24710053 1 15 321.57 - - 7 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 2 6 6 30 28 30 28 6 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668283878 16 27618668 C CT 420 PASS KIAA0556 CCDS32415.1 r.? - - Ins intronic I 27618668 27618670 1 18 375.165 - - 1 1 1 KIAA0556|CCDS32415.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA0556|CCDS32415.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 5 3 6 21 29 21 30 3 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668288959 16 48318345 GC G 960 PASS LONP2 CCDS10734.1 r.? - - Del intronic D 48318345 48318348 1 65 867.152 - - 2 1 1 LONP2|CCDS10734.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LONP2|CCDS10734.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 12 4 16 9 27 20 27 20 16 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668299144 16 83649047 GT G 360 PASS CDH13 ENST00000268613 r.? - - Del intronic D 83649047 83649053 1 15 325.182 - - 5 1 1 CDH13|ENST00000268613|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH13|ENST00000268613|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 4 4 6 7 12 7 12 4 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668300774 16 89311219 CCTATT C 385 PASS - - - - - Del - D 89311219 89311228 5 28 485.365 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 3 7 4 22 10 22 10 7 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668303762 17 6140360 AC A 629 PASS - - - - - Del - D 6140360 6140363 1 42 594.812 - - 2 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 6 5 10 6 26 24 26 24 10 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668305747 17 10944979 G GT 420 PASS - - - - - Ins - I 10944979 10944987 1 18 374.302 - - 7 1 1 - - ./. 0 0 0 0 15 12 16 14 0 0 ./. 2 5 6 5 28 27 28 27 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668311572 17 26913546 TTTTG T 449 PASS SPAG5 CCDS32594.1 r.? - - Del intronic D 26913546 26913566 4 24 428.978 - - 4 1 1 SPAG5|CCDS32594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG5|CCDS32594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 5 3 5 4 42 28 42 28 5 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668313344 17 30171392 A AC 269 PASS - - - - - Ins - I 30171392 30171394 1 10 263.144 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 1 4 2 43 49 43 49 4 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668313371 17 30206690 C CA 300 PASS UTP6 CCDS11269.1 r.? - - Ins intronic I 30206690 30206700 1 10 267.359 - - 9 1 1 UTP6|CCDS11269.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UTP6|CCDS11269.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 20 11 20 0 0 ./. 1 4 1 4 39 54 41 55 1 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668315869 17 35810120 GGAA G 418 PASS TADA2A CCDS11319.1 r.? - - Del intronic D 35810120 35810131 3 21 432.59 - - 3 1 1 TADA2A|CCDS11319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TADA2A|CCDS11319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 21 9 21 0 0 ./. 2 6 2 9 29 57 29 57 2 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668317585 17 38555233 CAT C 838 PASS TOP2A CCDS45672.1 r.? - - Del intronic D 38555233 38555237 2 72 811.107 - - 1 1 1 TOP2A|CCDS45672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TOP2A|CCDS45672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 7 8 14 12 28 29 28 29 14 12 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668322542 17 46482452 T TA 300 PASS SKAP1 CCDS32674.1 r.? - - Ins intronic I 46482452 46482461 1 12 267.359 - - 8 1 1 SKAP1|CCDS32674.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SKAP1|CCDS32674.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 2 3 4 26 43 26 43 3 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668323481 17 47971754 TG T 2009 PASS - - - - - Del - D 47971754 47971758 1 324 1834.29 - - 3 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 17 17 22 23 42 51 42 51 22 23 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668325018 17 51191360 GA G 300 PASS - - - - - Del - D 51191360 51191368 1 10 270.369 - - 7 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 1 4 1 36 27 36 27 4 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668326190 17 54352725 CT C 660 PASS ANKFN1 CCDS32686.1 r.? - - Del intronic D 54352725 54352729 1 42 594.21 - - 3 1 1 ANKFN1|CCDS32686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKFN1|CCDS32686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 6 5 6 6 30 38 30 38 6 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668327057 17 56128855 ATCT A 778 PASS - - - - - Del - D 56128855 56128862 3 63 757.033 - - 2 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 8 6 8 6 28 19 28 19 8 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668328883 17 59429349 CTGTT C 300 PASS BCAS3 CCDS45749.1 r.? - - Del intronic D 59429349 59429358 4 12 270.369 - - 2 1 1 BCAS3|CCDS45749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCAS3|CCDS45749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 4 5 17 51 17 51 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668329321 17 60233004 TA T 480 PASS - - - - - Del - D 60233004 60233008 1 21 432.59 - - 3 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 6 5 10 17 21 17 21 5 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668331079 17 63623000 CT C 569 PASS - - - - - Del - D 63623000 63623010 1 35 540.136 - - 9 1 - - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 6 4 17 16 36 38 36 38 17 16 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668332302 17 65652046 C CA 509 PASS PITPNC1 ENST00000423236 r.? - - Ins intronic I 65652046 65652054 1 30 477.633 - - 7 1 1 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 7 7 7 0 0 ./. 4 5 6 8 30 29 30 29 6 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668333665 17 68038763 AG A 420 PASS - - - - - Del - D 68038763 68038765 1 20 378.517 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 3 6 5 42 32 42 32 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668343206 18 7416495 AT A 360 PASS - - - - - Del - D 7416495 7416504 1 15 325.149 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 2 7 5 12 16 12 16 7 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668343270 18 7760037 TCTTA T 418 PASS PTPRM CCDS11840.1 r.? - - Del intronic D 7760037 7760045 4 24 427.512 - - 1 1 1 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 5 3 5 6 12 14 12 14 5 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668343613 18 9165376 AGCTG A 386 PASS ANKRD12 CCDS42411.1 r.? - - Del intronic D 9165376 9165381 4 14 378.739 - - 1 1 1 ANKRD12|CCDS42411.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ANKRD12|CCDS42411.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 1 6 1 8 4 14 4 14 1 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668346899 18 20482948 C CT 420 PASS - - - - - Ins - I 20482948 20482957 1 18 374.525 - - 8 1 1 - - ./. 0 0 0 0 16 14 16 15 0 0 ./. 5 2 6 3 29 31 30 31 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668349464 18 27462000 AC A 660 PASS - - - - - Del - D 27462000 27462003 1 42 595.505 - - 2 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 5 6 6 19 24 19 24 6 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668349465 18 27465172 G GT 480 PASS - - - - - Ins - I 27465172 27465181 1 24 428.716 - - 8 1 1 - - ./. 0 0 0 0 18 21 18 22 0 0 ./. 5 3 8 7 35 24 35 24 8 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668349471 18 27494382 CCTCT C 600 PASS - - - - - Del - D 27494382 27494389 4 35 541.916 - - 3 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 6 4 8 4 21 18 21 18 8 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668349688 18 27996106 T TA 360 PASS - - - - - Ins - I 27996106 27996108 1 15 320.333 - - 1 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 4 2 6 2 23 20 23 21 6 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668349862 18 28558626 TAGTA T 300 PASS - - - - - Del - D 28558626 28558637 4 6 270.958 - - 2 1 1 - - ./. 0 0 0 0 23 15 23 15 0 0 ./. 5 0 6 0 24 33 24 33 6 0 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668351040 18 32131685 TC T 420 PASS DTNA CCDS45848.1 r.? - - Del intronic D 32131685 32131687 1 18 379.341 - - 1 1 1 DTNA|CCDS45848.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DTNA|CCDS45848.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 2 5 2 9 16 29 16 29 2 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668353735 18 40109762 GA G 509 PASS - - - - - Del - D 40109762 40109771 1 30 487.724 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 4 6 6 35 31 35 31 6 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668357015 18 49345678 CCTT C 540 PASS - - - - - Del - D 49345678 49345685 3 28 487.724 - - 2 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 6 3 11 4 41 25 41 25 11 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668357059 18 49519427 AT A 420 PASS - - - - - Del - D 49519427 49519434 1 14 379.341 - - 6 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 6 1 6 1 34 22 34 22 6 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668365550 18 70239084 A AT 300 PASS - - - - - Ins - I 70239084 70239093 1 12 267.948 - - 8 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 3 2 5 4 35 27 35 27 5 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668365727 18 70627238 TAAG T 1138 PASS - - - - - Del - D 70627238 70627245 3 121 1080.22 - - 2 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 10 10 10 12 29 39 29 39 10 12 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668380973 19 28726089 CA C 360 PASS - - - - - Del - D 28726089 28726096 1 12 325.672 - - 6 1 1 - - ./. 0 0 0 0 13 18 14 18 0 0 ./. 1 5 3 11 16 23 17 24 3 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668386374 19 41620507 GT G 480 PASS CYP2F1 CCDS12572.1 r.? - - Del intronic D 41620507 41620511 1 25 434.229 - - 3 1 1 CYP2F1|CCDS12572.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CYP2F1|CCDS12572.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 4 4 9 6 20 13 20 13 9 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668389435 19 48547973 GT G 600 PASS PLA2G4C CCDS12710.1 r.? - - Del downstream D 48547973 48547978 1 27 542.786 - - 4 1 1 PLA2G4C|CCDS12710.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CABP5|CCDS12709.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 4 8 4 8 0 0 ./. 2 8 3 10 17 20 17 20 3 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668395029 2 1422071 A AG 263 PASS TPO CCDS1643.1 r.? - - Ins intronic I 1422071 1422072 1 10 265.807 - - 0 1 1 TPO|CCDS1643.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TPO|CCDS1643.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 1 4 2 33 31 33 31 4 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668395611 2 3786977 CA C 300 PASS ENSG00000214866 ENST00000423741 r.? - - Del intronic D 3786977 3786979 1 6 265.807 - - 1 1 1 ENSG00000214866|ENST00000423741|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000214866|ENST00000423741|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 3 8 3 0 0 ./. 0 5 0 5 24 29 24 29 0 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668397041 2 8698199 AAG A 420 PASS - - - - - Del - D 8698199 8698208 2 20 374.539 - - 4 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 4 4 6 27 25 27 25 4 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668398244 2 11601050 C CAGAA 269 PASS E2F6 CCDS1680.2 r.? - - Ins intronic I 11601050 11601056 4 12 256.776 - - 1 1 1 E2F6|CCDS1680.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 E2F6|CCDS1680.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 3 4 3 30 28 31 28 4 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668399971 2 17124188 CA C 480 PASS - - - - - Del - D 17124188 17124193 1 24 430.108 - - 4 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 3 6 5 28 15 28 15 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668401437 2 22092645 CA C 480 PASS - - - - - Del - D 22092645 22092650 1 25 430.108 - - 4 1 1 - - ./. 0 0 0 0 11 26 11 26 0 0 ./. 4 4 7 4 18 30 18 30 7 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668401602 2 22820475 GC G 1200 PASS - - - - - Del - D 22820475 22820477 1 120 1074.67 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 9 11 16 19 36 32 36 32 16 19 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668401662 2 23089753 AAACTGAG A 580 PASS - - - - - Del - D 23089753 23089763 7 117 1074.07 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 12 8 13 10 26 20 26 20 13 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668401664 2 23096841 CACA C 269 PASS - - - - - Del - D 23096841 23096848 3 10 268.818 - - 2 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 1 4 2 32 24 32 24 4 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668403788 2 28209485 GTCA G 360 PASS BRE CCDS1764.1 r.? - - Del intronic D 28209485 28209496 3 15 322.581 - - 3 1 1 BRE|CCDS1764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRE|CCDS1764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 2 4 3 4 17 17 17 17 3 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668404981 2 31426336 TTC T 660 PASS CAPN14 CCDS46254.1 r.? - - Del intronic D 31426336 31426342 2 40 591.399 - - 2 1 1 CAPN14|CCDS46254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAPN14|CCDS46254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 8 18 8 0 0 ./. 4 7 6 11 28 24 28 24 6 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668408885 2 41443849 TTC T 300 PASS - - - - - Del - D 41443849 41443865 2 12 268.818 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 3 3 25 28 25 28 3 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668411971 2 49840998 C CT 540 PASS - - - - - Ins - I 49840998 49841008 1 30 478.453 - - 9 1 1 - - ./. 0 0 0 0 10 14 11 14 0 0 ./. 5 4 5 5 30 22 31 22 5 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668412319 2 50918620 A AT 929 PASS NRXN1 CCDS46282.1 r.? - - Ins intronic I 50918620 50918628 1 77 847.573 - - 7 1 1 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 18 8 19 0 0 ./. 10 6 13 10 41 35 41 35 13 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668416188 2 62976103 GT G 420 PASS EHBP1 CCDS1872.1 r.? - - Del intronic D 62976103 62976108 1 25 430.108 - - 4 1 1 EHBP1|CCDS1872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EHBP1|CCDS1872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 4 5 6 36 29 36 29 5 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668417878 2 68073785 GA G 360 PASS - - - - - Del - D 68073785 68073795 1 16 322.581 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 3 4 3 16 20 16 20 4 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668422081 2 81587911 C CT 478 PASS - - - - - Ins - I 81587911 81587920 1 84 903.143 - - 8 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 11 6 14 10 34 23 34 23 14 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668427393 2 99339192 A AAATTTTTGCTGAAGG 725 PASS MGAT4A CCDS2036.1 r.? - - Ins intronic I 99339192 99339196 15 180 1118.32 - - 0 1 1 MGAT4A|CCDS2036.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MGAT4A|CCDS2036.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 14 11 0 0 24 20 26 23 14 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668427793 2 100361866 AG A 300 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100361866 100361868 1 12 268.818 - - 1 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 2 5 3 22 19 22 19 5 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668427836 2 100575477 TGAG T 745 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100575477 100575481 3 72 806.453 - - 1 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 8 7 10 10 25 24 25 25 10 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668430422 2 109691447 ACT A 1320 PASS - - - - - Del - D 109691447 109691451 2 108 1179.19 - - 1 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 5 17 8 23 10 29 10 29 8 23 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668430966 2 112630109 GA G 610 PASS ANAPC1 CCDS2093.1 r.? - - Del intronic D 112630109 112630114 1 49 645.162 - - 4 1 1 ANAPC1|CCDS2093.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANAPC1|CCDS2093.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 6 6 7 6 19 23 19 23 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668431458 2 114103699 AG A 456 PASS - - - - - Del - D 114103699 114103704 1 21 430.108 - - 4 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 6 2 7 2 24 21 24 21 7 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668432190 2 116447248 CT C 420 PASS DPP10 CCDS46400.1 r.? - - Del intronic D 116447248 116447255 1 18 376.345 - - 6 1 1 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 5 3 6 20 14 20 14 3 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668432663 2 118090985 GT G 300 PASS - - - - - Del - D 118090985 118090988 1 12 268.818 - - 2 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 2 6 3 16 14 16 14 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668433738 2 121979480 T TA 509 PASS TFCP2L1 CCDS2134.1 r.3974_3975insu c.? p.? Ins 3'UTR variant I 121979480 121979483 1 28 477.851 - - 2 1 1 TFCP2L1|CCDS2134.1|r.3974_3975insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 TFCP2L1|CCDS2134.1|r.3974_3975insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 9 16 9 16 0 0 ./. 6 3 10 6 22 14 22 14 10 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668433984 2 122928534 GA G 420 PASS - - - - - Del - D 122928534 122928543 1 20 376.345 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 4 6 6 16 16 16 16 6 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668435783 2 129007576 ACAC A 509 PASS - - - - - Del - D 129007576 129007580 3 28 483.872 - - 1 1 - - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 6 3 7 6 16 24 16 24 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668438020 2 135847526 A AG 300 PASS RAB3GAP1 CCDS33294.1 r.? - - Ins intronic I 135847526 135847530 1 10 259.185 - - 3 1 1 RAB3GAP1|CCDS33294.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAB3GAP1|CCDS33294.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 1 4 3 5 17 18 17 18 3 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668438460 2 137578467 GAGAA G 720 PASS THSD7B ENST00000409968 r.? - - Del intronic D 137578467 137578480 4 45 645.162 - - 3 1 - THSD7B|ENST00000409968|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 THSD7B|ENST00000409968|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 15 23 15 0 0 ./. 8 4 9 5 23 14 23 14 9 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668440869 2 145990014 CT C 360 PASS - - - - - Del - D 145990014 145990019 1 7 321.979 - - 4 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 0 6 3 8 14 26 14 26 3 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668441520 2 148858561 CAA C 538 PASS MBD5 CCDS33302.1 r.? - - Del intronic D 148858561 148858565 2 35 532.819 - - 3 1 1 MBD5|CCDS33302.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MBD5|CCDS33302.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 4 7 5 23 19 23 19 7 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668441760 2 149804916 TA T 600 PASS KIF5C ENST00000435030 r.? - - Del intronic D 149804916 149804920 1 35 531.013 - - 3 1 1 KIF5C|ENST00000435030|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF5C|ENST00000435030|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 6 5 6 26 28 26 28 5 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668441887 2 150420386 CTA C 540 PASS - - - - - Del - D 150420386 150420390 2 30 483.872 - - 1 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 4 6 5 16 19 16 19 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668444085 2 157656044 A AT 300 PASS - - - - - Ins - I 157656044 157656048 1 10 265.807 - - 3 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 4 4 5 22 22 23 22 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668444981 2 160629454 CTT C 900 PASS MARCH7 CCDS2210.1 r.? - - Del downstream D 160629454 160629460 2 66 805.249 - - 5 1 1 MARCH7|CCDS2210.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CD302|CCDS33308.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 28 16 28 0 0 ./. 10 5 12 10 23 25 23 25 12 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668445673 2 163069180 CTTTG C 1076 PASS FAP CCDS33311.1 r.? - - Del intronic D 163069180 163069191 4 121 1075.27 - - 2 1 1 FAP|CCDS33311.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAP|CCDS33311.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 10 10 11 11 16 16 16 16 11 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668445687 2 163209470 GA G 1020 PASS GCA CCDS2218.1 r.? - - Del intronic D 163209470 163209474 1 70 912.174 - - 3 1 1 GCA|CCDS2218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GCA|CCDS2218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 20 17 20 0 0 ./. 13 4 18 4 30 16 30 16 18 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668445818 2 163989609 TTG T 420 PASS - - - - - Del - D 163989609 163989615 2 20 376.345 - - 2 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 4 3 7 6 24 27 24 27 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668448155 2 171812923 G GT 300 PASS GORASP2 CCDS33325.1 r.? - - Ins intronic I 171812923 171812933 1 12 265.807 - - 9 1 1 GORASP2|CCDS33325.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GORASP2|CCDS33325.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 12 23 12 0 0 ./. 3 2 3 3 43 20 43 20 3 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668449192 2 174685133 AGTGGGGTT A 261 PASS - - - - - Del - D 174685133 174685144 8 28 482.668 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 3 6 3 22 15 22 15 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668452201 2 185784868 AC A 420 PASS ZNF804A CCDS2291.1 r.? - - Del intronic D 185784868 185784871 1 14 376.345 - - 2 1 1 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 6 1 6 15 24 15 24 1 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668454428 2 193894682 GC G 509 PASS - - - - - Del - D 193894682 193894685 1 18 483.27 - - 2 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 1 8 2 11 12 27 12 27 2 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668455920 2 199087094 AG A 1589 PASS - - - - - Del - D 199087094 199087097 1 204 1450.41 - - 2 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 16 11 21 15 24 18 24 18 21 15 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668459559 2 210001351 AT A 452 PASS - - - - - Del - D 210001351 210001355 1 40 645.162 - - 3 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 9 2 11 16 27 17 27 3 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668461780 2 217601533 TTAAGA T 973 PASS - - - - - Del - D 217601533 217601543 5 176 1343.49 - - 1 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 10 15 13 16 15 19 15 19 13 16 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668466123 2 231718260 AAGG A 360 PASS - - - - - Del - D 231718260 231718270 3 15 322.581 - - 3 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 2 4 6 30 35 30 35 4 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668466126 2 231723322 T TA 480 PASS - - - - - Ins - I 231723322 231723331 1 21 425.292 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 6 2 6 3 20 27 20 27 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668466350 2 232357115 AT A 260 PASS - - - - - Del - D 232357115 232357122 1 10 265.807 - - 6 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 4 1 8 2 22 12 22 12 8 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668467290 2 234839167 AG A 569 PASS TRPM8 CCDS33407.1 r.? - - Del intronic D 234839167 234839170 1 32 537.635 - - 2 1 1 TRPM8|CCDS33407.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPM8|CCDS33407.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 7 5 8 18 17 18 17 5 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668468036 2 237140959 CAT C 360 PASS ASB18 CCDS46548.1 r.? - - Del intronic D 237140959 237140964 2 16 322.581 - - 2 1 1 ASB18|CCDS46548.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASB18|CCDS46548.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 3 4 6 19 26 19 27 4 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668471502 20 4151890 TCTC T 687 PASS SMOX CCDS13075.1 r.? - - Del intronic D 4151890 4151896 3 54 705.791 - - 1 1 1 SMOX|CCDS13075.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SMOX|CCDS13075.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 8 5 10 5 34 23 34 23 10 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668474147 20 11050474 CT C 420 PASS - - - - - Del - D 11050474 11050481 1 18 380.041 - - 6 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 2 5 7 7 28 32 28 32 7 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668474375 20 11690833 CCA C 689 PASS - - - - - Del - D 11690833 11690842 2 48 651.5 - - 4 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 7 5 8 8 25 30 25 30 8 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668475062 20 13463070 G GT 660 PASS TASP1 CCDS13116.1 r.? - - Ins intronic I 13463070 13463077 1 42 589.983 - - 6 1 1 TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 6 6 10 19 29 20 29 6 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668478622 20 23525515 C CTTCA 687 PASS ENSG00000204662 ENST00000376987 r.? - - Ins downstream I 23525515 23525521 4 54 674.484 - - 1 1 1 ENSG00000204662|ENST00000376987|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000204662|ENST00000376987|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 8 7 8 21 31 21 31 7 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668479102 20 24964086 G GT 420 PASS C20orf3 CCDS13166.1 r.? - - Ins intronic I 24964086 24964093 1 18 372.215 - - 6 1 1 C20orf3|CCDS13166.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C20orf3|CCDS13166.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 14 14 0 0 ./. 2 5 4 5 31 33 31 34 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668482140 20 31504236 AT A 480 PASS EFCAB8 CCDS46588.1 r.? - - Del intronic D 31504236 31504246 1 25 434.333 - - 9 1 1 EFCAB8|CCDS46588.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EFCAB8|CCDS46588.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 4 5 6 18 29 18 29 5 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668483839 20 35088880 C CTATCATCTTCGCCAG 261 PASS DLGAP4 CCDS13274.1 r.? - - Ins intronic I 35088880 35088897 15 30 405.54 - - 1 1 1 DLGAP4|CCDS13274.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DLGAP4|CCDS13274.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 5 2 2 31 28 33 31 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668485041 20 37892880 A AT 660 PASS - - - - - Ins - I 37892880 37892889 1 42 589.983 - - 8 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 6 5 7 7 21 38 21 38 7 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668489134 20 48631263 ATG A 300 PASS - - - - - Del - D 48631263 48631280 2 12 269.05 - - 8 1 - - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 2 3 26 45 26 45 2 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668496285 21 10023805 TA T 570 PASS - - - - - Del - D 10023805 10023808 1 55 761.708 - - 2 1 1 - - ./. 0 0 0 0 99 72 99 72 0 0 ./. 10 4 10 8 123 124 123 124 10 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668498879 21 15046517 ACTC A 411 PASS - - - - - Del - D 15046517 15046524 3 48 652.892 - - 2 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 7 5 7 6 25 24 25 24 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668499415 21 16417713 GT G 540 PASS NRIP1 CCDS13568.1 r.? - - Del intronic D 16417713 16417716 1 30 489.669 - - 2 1 1 NRIP1|CCDS13568.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NRIP1|CCDS13568.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 5 4 5 5 22 22 22 22 5 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668501478 21 22060207 GGAGA G 269 PASS - - - - - Del - D 22060207 22060218 4 12 272.039 - - 5 1 - - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 2 6 4 17 20 17 21 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668501503 21 22116514 GGTT G 329 PASS - - - - - Del - D 22116514 22116521 3 7 326.446 - - 2 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 0 6 0 6 21 34 21 34 0 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668502799 21 25166433 GA G 600 PASS - - - - - Del - D 25166433 25166443 1 35 542.271 - - 9 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 6 4 6 7 20 23 20 23 6 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668510112 21 43572382 C CT 540 PASS - - - - - Ins - I 43572382 43572384 1 30 484.251 - - 1 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 5 4 6 4 26 20 26 20 6 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668510381 21 44335849 TG T 389 PASS - - - - - Del - D 44335849 44335851 1 18 378.446 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 2 8 3 36 17 36 17 8 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668511738 21 47941097 GTTTTC G 358 PASS DIP2A CCDS46655.1 r.? - - Del intronic D 47941097 47941112 5 20 380.854 - - 2 1 1 DIP2A|CCDS46655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIP2A|CCDS46655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 4 3 5 3 25 23 25 23 5 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668512910 22 18120675 CAA C 540 PASS BCL2L13 CCDS13746.1 r.? - - Del upstream D 18120675 18120679 2 24 491.278 - - 3 1 1 BCL2L13|CCDS13746.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 BCL2L13|ENST00000399782|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 7 2 8 3 28 24 28 24 8 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668515490 22 25629073 CT C 300 PASS CRYBB2 CCDS13831.1 r.? - - Del downstream D 25629073 25629075 1 12 272.932 - - 1 1 1 CRYBB2|CCDS13831.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CRYBB2|CCDS13831.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 2 5 4 26 17 26 17 5 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668519279 22 36385696 G GA 300 PASS RBM9 CCDS43013.1 r.? - - Ins intronic I 36385696 36385704 1 12 269.922 - - 7 1 1 RBM9|CCDS43013.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBM9|CCDS43013.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 2 6 3 31 21 31 21 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668521876 22 43331105 T TG 300 PASS PACSIN2 CCDS43023.1 r.? - - Ins intronic I 43331105 43331106 1 10 253.667 - - 0 1 1 PACSIN2|CCDS43023.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PACSIN2|CCDS43023.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 1 4 2 4 19 18 19 18 2 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668523534 22 48505036 CA C 2160 PASS - - - - - Del - D 48505036 48505038 1 357 1956.68 - - 1 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 20 16 28 20 34 27 34 27 28 20 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668524838 3 1111745 CT C 300 PASS - - - - - Del - D 1111745 1111754 1 12 269.483 - - 8 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 3 2 4 3 19 14 19 14 4 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668532554 3 23615486 T TA 1260 PASS UBE2E2 CCDS2637.1 r.? - - Ins intronic I 23615486 23615496 1 132 1116.78 - - 9 1 1 UBE2E2|CCDS2637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UBE2E2|CCDS2637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 10 11 12 17 21 30 21 30 12 17 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668533490 3 26597295 GA G 300 PASS - - - - - Del - D 26597295 26597304 1 12 269.483 - - 8 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 3 2 5 3 21 17 21 17 5 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668533516 3 26689927 CT C 420 PASS LRRC3B CCDS2644.1 r.? - - Del intronic D 26689927 26689937 1 8 376.674 - - 9 1 1 LRRC3B|CCDS2644.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LRRC3B|CCDS2644.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 0 7 3 9 13 23 13 23 3 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668536497 3 36045227 AAT A 360 PASS - - - - - Del - D 36045227 36045232 2 15 323.379 - - 2 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 2 5 3 16 22 16 22 5 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668537455 3 39942649 TTAC T 538 PASS MYRIP CCDS2689.1 r.? - - Del intronic D 39942649 39942655 3 32 533.547 - - 1 1 1 MYRIP|CCDS2689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYRIP|CCDS2689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 7 3 8 3 29 17 29 17 8 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668543878 3 58762012 T TA 629 PASS C3orf67 CCDS33776.1 r.? - - Ins intronic I 58762012 58762014 1 40 581.423 - - 1 1 1 C3orf67|CCDS33776.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C3orf67|CCDS33776.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 7 5 7 15 27 16 27 5 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668548625 3 73197301 A AT 780 PASS AC103560.1 ENST00000509224 r.? - - Ins intronic I 73197301 73197311 1 54 690.42 - - 9 1 1 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 15 23 15 0 0 ./. 5 8 8 10 26 17 26 17 8 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668549744 3 75742580 TG T 348 PASS - - - - - Del - D 75742580 75742582 1 35 538.966 - - 1 1 1 - - ./. 0 0 0 0 94 55 95 56 0 0 ./. 4 6 9 10 140 124 141 126 9 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668550625 3 76331023 AC A 480 PASS ROBO2 ENST00000487694 r.? - - Del intronic D 76331023 76331027 1 25 431.173 - - 3 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 4 5 5 17 23 17 23 5 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668550841 3 76915370 CAAA C 269 PASS ROBO2 ENST00000487694 r.? - - Del intronic D 76915370 76915377 3 12 269.483 - - 6 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 3 2 5 2 19 16 19 16 5 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668551181 3 78005920 AT A 540 PASS - - - - - Del - D 78005920 78005925 1 28 480.855 - - 4 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 6 5 8 15 20 15 20 5 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668555822 3 97599043 CTCCT C 389 PASS CRYBG3 CCDS43113.1 r.? - - Del intronic D 97599043 97599052 4 20 377.276 - - 2 1 1 CRYBG3|CCDS43113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRYBG3|CCDS43113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 4 3 5 3 23 15 23 15 5 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668557933 3 104365276 C CT 540 PASS - - - - - Ins - I 104365276 104365283 1 28 479.651 - - 6 1 1 - - ./. 0 0 0 0 12 19 13 19 0 0 ./. 6 3 8 4 17 10 17 10 8 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668560072 3 110203429 TA T 420 PASS - - - - - Del - D 110203429 110203438 1 20 377.276 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 3 5 4 22 16 22 16 5 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668562387 3 117315586 G GA 300 PASS - - - - - Ins - I 117315586 117315592 1 12 266.473 - - 5 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 2 3 2 4 14 19 14 19 2 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668565912 3 128367919 GAAAC G 329 PASS RPN1 CCDS3051.1 r.? - - Del intronic D 128367919 128367932 4 15 323.379 - - 3 1 1 RPN1|CCDS3051.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPN1|CCDS3051.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 4 3 4 15 16 15 16 3 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668566601 3 130657570 A AGT 480 PASS ATP2C1 CCDS46914.1 r.? - - Ins intronic I 130657570 130657574 2 24 420.938 - - 1 1 1 ATP2C1|CCDS46914.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP2C1|CCDS46914.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 12 14 0 0 ./. 3 5 3 6 28 26 28 26 3 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668568329 3 136341381 TAA T 416 PASS STAG1 CCDS3090.1 r.? - - Del intronic D 136341381 136341384 2 30 485.069 - - 2 1 1 STAG1|CCDS3090.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STAG1|CCDS3090.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 5 8 8 18 17 18 17 8 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668570989 3 144732078 C CT 600 PASS - - - - - Ins - I 144732078 144732086 1 35 532.945 - - 7 1 1 - - ./. 0 0 0 0 14 29 15 29 0 0 ./. 6 4 8 5 26 14 26 14 8 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668571257 3 145440865 A ATC 420 PASS - - - - - Ins - I 145440865 145440870 2 20 368.847 - - 2 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 4 4 4 17 14 17 14 4 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668572782 3 150261924 GACTAATTGTTCAT G 363 PASS SERP1 CCDS3150.1 r.1782_1794delAUGAACAAUUAGU c.? p.? Del 3'UTR variant D 150261924 150261941 13 50 700.655 - - 1 1 1 SERP1|CCDS3150.1|r.1782_1794delAUGAACAAUUAGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SERP1|CCDS3150.1|r.1782_1794delAUGAACAAUUAGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 8 12 8 0 0 ./. 9 4 8 4 23 20 24 20 9 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668572825 3 150324772 TC T 900 PASS SERP1 CCDS3150.1 r.? - - Del upstream D 150324772 150324775 1 66 808.449 - - 2 1 1 SERP1|CCDS3150.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000198843|CCDS46936.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 10 11 11 26 29 26 29 11 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668572918 3 150535821 TTCCTA T 266 PASS ENSG00000224010 ENST00000412550 r.? - - Del intronic D 150535821 150535827 5 14 377.276 - - 1 1 1 ENSG00000224010|ENST00000412550|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000224010|ENST00000412550|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 6 1 8 1 21 18 21 18 8 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668573015 3 150924051 G GT 300 PASS MED12L CCDS33876.1 r.? - - Ins intronic I 150924051 150924061 1 12 266.473 - - 9 1 1 MED12L|CCDS33876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MED12L|CCDS33876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 3 2 3 19 15 19 16 2 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668575608 3 159188605 G GAT 420 PASS SCHIP1 CCDS3186.1 r.? - - Ins intronic I 159188605 159188621 2 20 368.847 - - 7 1 1 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 16 17 0 0 ./. 3 4 3 4 15 28 15 28 3 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668577451 3 164557457 GC G 660 PASS - - - - - Del - D 164557457 164557459 1 42 592.862 - - 1 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 6 5 9 7 30 25 30 25 9 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668577835 3 165815904 CT C 360 PASS - - - - - Del - D 165815904 165815910 1 12 323.379 - - 5 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 5 1 8 2 27 23 27 23 8 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668582740 3 181952370 ATGTTAT A 261 PASS - - - - - Del - D 181952370 181952382 6 24 485.069 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 7 2 9 2 22 18 22 18 9 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668583510 3 184122336 GATT G 476 PASS EIF2B5 ENST00000444495 r.? - - Del intronic D 184122336 184122340 3 36 538.966 - - 1 1 1 EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 5 5 7 6 17 31 17 31 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668585322 3 188871171 AGAG A 404 PASS TPRG1 CCDS3292.1 r.? - - Del intronic D 188871171 188871175 3 21 431.173 - - 1 1 1 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 6 4 9 16 27 16 27 4 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668585361 3 188964523 CTTGAGGAATAT C 319 PASS TPRG1 CCDS3292.1 r.? - - Del intronic D 188964523 188964537 11 42 591.658 - - 1 1 1 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 5 7 5 27 16 27 16 7 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668586063 3 190908658 G GT 1014 PASS - - - - - Ins - I 190908658 190908659 1 90 906.007 - - 0 1 1 - - ./. 0 0 0 0 12 13 12 14 0 0 ./. 8 9 11 11 18 23 18 23 11 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668587751 3 195619104 GGC G 360 PASS TNK2 CCDS33928.1 r.? - - Del intronic D 195619104 195619107 2 15 323.379 - - 1 1 1 TNK2|CCDS33928.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TNK2|CCDS33928.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 2 4 2 6 14 19 14 19 2 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668590681 4 4502500 CA C 960 PASS STX18 CCDS3377.1 r.? - - Del intronic D 4502500 4502502 1 81 859.625 - - 1 1 1 STX18|CCDS3377.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STX18|CCDS3377.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 8 8 11 10 34 26 34 26 11 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668593133 4 11833631 GTCA G 360 PASS - - - - - Del - D 11833631 11833639 3 15 323.262 - - 2 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 2 3 3 18 17 18 17 4 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668596263 4 21648585 T TA 540 PASS KCNIP4 CCDS43217.1 r.? - - Ins intronic I 21648585 21648594 1 24 475.261 - - 8 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 7 2 9 3 21 16 21 16 9 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668600002 4 32711546 A AT 420 PASS - - - - - Ins - I 32711546 32711552 1 20 372.925 - - 5 1 1 - - ./. 0 0 0 0 18 13 18 14 0 0 ./. 4 3 5 7 19 27 19 27 5 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668600211 4 33743090 TAA T 300 PASS - - - - - Del - D 33743090 33743093 2 12 269.385 - - 2 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 3 2 5 17 15 17 15 2 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668600336 4 34153465 AG A 360 PASS - - - - - Del - D 34153465 34153468 1 16 323.262 - - 2 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 3 3 3 4 15 18 15 18 3 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668601509 4 38131586 C CAGTAAAATATTCATACCCTT 290 PASS TBC1D1 CCDS33972.1 r.? - - Ins intronic I 38131586 38131607 20 35 413.542 - - 1 1 1 TBC1D1|CCDS33972.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TBC1D1|CCDS33972.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 6 0 1 22 23 26 28 4 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668603281 4 41428444 T TAA 629 PASS LIMCH1 CCDS33977.1 r.? - - Ins intronic I 41428444 41428447 2 42 579.402 - - 2 1 1 LIMCH1|CCDS33977.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LIMCH1|CCDS33977.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 6 5 8 7 22 23 22 23 8 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668604909 4 47406332 GTTAA G 567 PASS GABRB1 CCDS3474.1 r.? - - Del intronic D 47406332 47406343 4 40 592.648 - - 2 1 1 GABRB1|CCDS3474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GABRB1|CCDS3474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 7 4 9 5 22 19 23 19 10 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668608937 4 59835362 GT G 600 PASS - - - - - Del - D 59835362 59835370 1 35 538.771 - - 7 1 1 - - ./. 0 0 0 0 20 7 20 7 0 0 ./. 6 4 6 4 20 24 20 24 6 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668609932 4 62345163 TC T 540 PASS LPHN3 ENST00000512091 r.? - - Del intronic D 62345163 62345166 1 28 484.894 - - 2 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 3 8 3 17 16 17 16 8 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668610653 4 64539819 CA C 420 PASS - - - - - Del - D 64539819 64539822 1 18 377.139 - - 2 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 5 3 6 17 18 17 18 3 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668610749 4 64819804 CTATT C 319 PASS - - - - - Del - D 64819804 64819812 4 12 323.262 - - 1 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 1 5 3 7 18 25 18 25 3 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668611669 4 67563967 G GTA 300 PASS - - - - - Ins - I 67563967 67563969 2 10 263.365 - - 0 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 1 4 3 5 17 19 17 19 3 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668611885 4 68227783 CAT C 480 PASS - - - - - Del - D 68227783 68227788 2 24 431.017 - - 2 1 1 - - ./. 0 0 0 0 22 11 22 11 0 0 ./. 3 5 4 5 20 16 20 16 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668612482 4 69912590 TG T 720 PASS UGT2B11 CCDS3527.1 r.? - - Del intronic D 69912590 69912592 1 40 644.117 - - 1 1 1 UGT2B11|CCDS3527.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 UGT2B11|CCDS3527.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 24 17 24 0 0 ./. 3 9 3 12 18 27 18 27 3 12 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668613397 4 72190960 TA T 360 PASS SLC4A4 CCDS47071.1 r.? - - Del intronic D 72190960 72190970 1 12 323.262 - - 9 1 1 SLC4A4|CCDS47071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC4A4|CCDS47071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 1 5 2 6 22 22 22 22 2 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668614959 4 76961673 T TC 420 PASS CXCL11 CCDS3574.1 r.? - - Ins upstream I 76961673 76961681 1 20 372.925 - - 7 1 1 CXCL11|CCDS3574.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ART3|CCDS47080.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 4 3 5 5 19 22 19 22 5 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668616339 4 81852076 CT C 298 PASS C4orf22 CCDS3587.1 r.? - - Del intronic D 81852076 81852086 1 7 322.66 - - 9 1 1 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 0 6 1 8 16 25 16 25 1 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668619910 4 92912538 TTAGACTTAG T 261 PASS - - - - - Del - D 92912538 92912551 9 30 484.894 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 5 4 5 14 21 14 22 4 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668622174 4 100794191 C CGT 420 PASS DAPP1 ENST00000296414 r.? - - Ins downstream I 100794191 100794208 2 20 368.711 - - 8 1 - DAPP1|ENST00000296414|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 DAPP1|ENST00000296414|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 17 15 18 15 0 0 ./. 4 3 6 3 32 19 32 20 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668625166 4 111189817 AC A 720 PASS - - - - - Del - D 111189817 111189819 1 45 642.912 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 8 5 11 19 25 19 25 5 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668632555 4 133237811 CTCTT C 267 PASS - - - - - Del - D 133237811 133237817 4 12 323.262 - - 1 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 5 1 5 3 29 22 30 22 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668634152 4 138383850 A AT 329 PASS - - - - - Ins - I 138383850 138383852 1 15 311.823 - - 1 1 - - - ./. 0 0 0 0 24 11 24 11 0 0 ./. 4 2 13 4 20 14 20 14 13 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668635615 4 142312604 TTTTCTCC T 493 PASS - - - - - Del - D 142312604 142312615 7 84 915.91 - - 1 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 6 11 6 13 18 22 18 22 6 13 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668642628 4 164562554 GA G 300 PASS MARCH1 CCDS45732.1 r.? - - Del intronic D 164562554 164562562 1 12 269.385 - - 7 1 1 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 2 5 2 19 15 19 15 5 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668645347 4 171980417 ATAGAG A 387 PASS - - - - - Del - D 171980417 171980428 5 25 428.006 - - 2 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 4 5 4 16 21 16 21 5 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668649196 4 182311485 TA T 360 PASS - - - - - Del - D 182311485 182311492 1 15 323.262 - - 6 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 4 4 6 16 18 16 18 4 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668651935 4 188673289 GGTACAGTCTGTTCCTTAGAGAGCCTACATAATACCTCTGCTGCATGAATTTCTTCTTACACTACAGTGCTCCAAGAACAATCATTCCAGGAGGTACAGGCAGAAACTAACAAGGCTTCTTAGGATTTAGCTTCAGAAGTCTCAGTACATAACTTGCCACATTACATTAGTCAAGCAAAAAGTAAGGCTAGGTGAGATTCAAGTGAATTTGGAAGGTTTTAAAAGGAGGAAGAGATTCCATTTCACATTTAAAAAAATGGCATGTGTCTTCAGCAAAGGAATATATAGCTGAAACACATCACAGGCACAAGGTACTTCAGTTTATACTCTAGCTCCACAATTTAATTTGGGTGATTATTTTTAATAGACTATTTTTTAGAGCAATTTTAGGTTCCAAGCAAAACTGAGTGGAAGGTACAGAGATATCTCAAATGGCTCCTACCCCTATGTAAGCATGGCTTCCCTCATTATTATCAACCCTCTCCAAAGTGGTACATTTGTTACAACTGATGAACTTATATTGACACATCATTGTCACCTGAAATCCATAGTTAACATTAGGTTTTACTTTTAGTGTTATACTCTCTATGGGTTTGACAAATGGATAATGACATGTATTCCACATAGTATCATACAGAGCACTTTCACTGCCCTCATAATCTTGGCACTTAGACTTTTC G 261 PASS - - - - - Del - D 188673289 188673968 678 28 484.894 - - 1 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 6 3 0 0 8 7 14 10 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668655025 5 2936413 CAA C 660 PASS - - - - - Del - D 2936413 2936419 2 42 594.27 - - 5 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 6 11 6 18 15 18 15 11 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668655362 5 3859076 T TAA 389 PASS - - - - - Ins - I 3859076 3859081 2 18 367.334 - - 4 1 1 - - ./. 0 0 0 0 19 14 19 15 0 0 ./. 5 2 6 5 23 19 23 20 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668656568 5 8266802 A AT 305 PASS - - - - - Ins - I 8266802 8266812 1 12 320.535 - - 9 1 1 - - ./. 0 0 0 0 24 21 25 22 0 0 ./. 5 1 6 2 23 14 23 14 6 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668658247 5 13876600 AT A 600 PASS DNAH5 CCDS3882.1 r.? - - Del intronic D 13876600 13876609 1 36 540.245 - - 8 1 1 DNAH5|CCDS3882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH5|CCDS3882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 5 10 5 24 11 24 11 10 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668658268 5 13928476 ACT A 509 PASS DNAH5 CCDS3882.1 r.? - - Del intronic D 13928476 13928481 2 30 486.221 - - 2 1 1 DNAH5|CCDS3882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH5|CCDS3882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 4 6 7 27 24 27 24 6 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668661044 5 22858914 TA T 540 PASS - - - - - Del - D 22858914 22858924 1 30 486.221 - - 9 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 4 6 4 26 14 26 14 6 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668662370 5 27402413 T TA 757 PASS - - - - - Ins - I 27402413 27402423 1 56 693.288 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 7 6 10 7 20 18 21 18 10 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668663137 5 29723473 CTT C 420 PASS - - - - - Del - D 29723473 29723478 2 18 378.172 - - 4 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 2 5 2 6 19 15 19 15 2 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668663563 5 31153994 G GCT 300 PASS - - - - - Ins - I 31153994 31154012 2 12 264.102 - - 8 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 3 2 4 5 15 24 15 24 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668666456 5 40430461 C CA 480 PASS - - - - - Ins - I 40430461 40430468 1 24 427.38 - - 6 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 5 3 5 11 16 11 16 3 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668667808 5 50183230 GA G 300 PASS - - - - - Del - D 50183230 50183240 1 10 270.123 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 1 4 2 12 11 12 11 4 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668668481 5 53341052 AAC A 300 PASS - - - - - Del - D 53341052 53341070 2 12 270.123 - - 8 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 3 3 20 19 20 19 3 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668670137 5 59351634 ACT A 509 PASS PDE4D CCDS47032.1 r.? - - Del intronic D 59351634 59351641 2 28 486.221 - - 3 1 1 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 6 6 7 14 20 14 20 6 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668677417 5 92294138 G GT 540 PASS - - - - - Ins - I 92294138 92294140 1 24 480.802 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 7 2 8 4 13 19 14 20 8 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668678669 5 98795765 T TA 780 PASS - - - - - Ins - I 98795765 98795774 1 54 691.482 - - 8 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 8 5 12 7 15 11 15 11 12 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668681971 5 113565373 CG C 600 PASS - - - - - Del - D 113565373 113565375 1 32 539.041 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 7 3 12 4 24 17 24 17 12 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668683001 5 118003952 T TG 420 PASS - - - - - Ins - I 118003952 118003960 1 18 372.151 - - 7 1 1 - - ./. 0 0 0 0 19 24 19 25 0 0 ./. 5 2 7 5 21 19 21 19 7 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668683336 5 119797798 AAC A 509 PASS PRR16 CCDS4127.1 r.? - - Del upstream D 119797798 119797802 2 18 485.618 - - 1 1 1 PRR16|CCDS4127.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PRR16|CCDS4127.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 18 13 18 13 0 0 ./. 8 1 13 1 31 9 31 9 13 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668683896 5 122775607 AATGCATCG A 261 PASS - - - - - Del - D 122775607 122775616 8 30 486.221 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 5 5 4 10 9 10 10 5 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668692811 5 161634620 CA C 300 PASS - - - - - Del - D 161634620 161634624 1 10 270.123 - - 3 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 1 4 3 17 14 17 14 4 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668693454 5 163997276 GA G 360 PASS AC008446.1 ENST00000486913 r.? - - Del intronic D 163997276 163997279 1 16 324.147 - - 2 1 1 AC008446.1|ENST00000486913|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC008446.1|ENST00000486913|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 3 4 5 7 11 7 11 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668693660 5 165060600 T TTG 300 PASS - - - - - Ins - I 165060600 165060607 2 6 264.102 - - 3 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 0 5 0 5 15 9 16 9 0 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668693693 5 165160389 AT A 480 PASS - - - - - Del - D 165160389 165160399 1 24 432.196 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 3 6 7 13 15 13 15 6 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668693735 5 165409794 GC G 420 PASS - - - - - Del - D 165409794 165409797 1 18 378.172 - - 2 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 2 7 3 16 10 16 10 7 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668695691 5 173358848 G GGTGC 269 PASS CPEB4 CCDS4390.1 r.? - - Ins intronic I 173358848 173358853 4 12 258.081 - - 1 1 1 CPEB4|CCDS4390.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CPEB4|CCDS4390.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 17 9 17 0 0 ./. 3 2 5 2 20 13 20 13 5 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668696351 5 175800923 GAA G 360 PASS ARL10 CCDS4400.1 r.2857_2858delAA c.? p.? Del 3'UTR variant D 175800923 175800930 2 16 324.147 - - 6 1 1 ARL10|CCDS4400.1|r.2857_2858delAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ARL10|CCDS4400.1|r.2857_2858delAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 4 3 13 19 13 19 4 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668699514 6 3823769 AGTAATG A 609 PASS - - - - - Del - D 3823769 3823778 6 130 1133.65 - - 1 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 12 9 13 12 23 36 24 36 14 12 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668702506 6 10377052 CT C 449 PASS - - - - - Del - D 10377052 10377054 1 25 425.846 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 4 7 6 20 25 20 25 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668703084 6 11623827 C CT 760 PASS - - - - - Ins - I 11623827 11623837 1 72 798.913 - - 9 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 7 8 12 12 37 40 37 40 12 12 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668704513 6 15084086 T TA 329 PASS - - - - - Ins - I 15084086 15084096 1 16 320.288 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 3 3 3 26 41 26 41 3 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668705192 6 16520375 AT A 300 PASS ATXN1 CCDS34342.1 r.? - - Del intronic D 16520375 16520378 1 12 269.917 - - 2 1 1 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 4 5 27 17 27 17 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668706285 6 18495855 T TA 689 PASS - - - - - Ins - I 18495855 18495857 1 48 638.769 - - 1 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 5 7 6 9 21 31 22 31 6 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668706345 6 18630606 CA C 300 PASS AL136230.1 ENST00000510325 r.? - - Del intronic D 18630606 18630610 1 12 268.712 - - 3 1 1 AL136230.1|ENST00000510325|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL136230.1|ENST00000510325|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 3 4 3 23 27 23 27 4 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668712217 6 31403913 TC T 480 PASS - - - - - Del - D 31403913 31403915 1 24 428.856 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 3 5 4 31 19 31 19 5 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668719957 6 49508825 CCTTTTCTTTATAACTA C 261 PASS - - - - - Del - D 49508825 49508842 16 28 485.248 - - 1 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 6 3 5 3 31 28 32 28 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668720285 6 50437062 GA G 300 PASS - - - - - Del - D 50437062 50437071 1 6 269.917 - - 8 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 0 5 2 6 20 29 20 29 2 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668722023 6 55487815 ACTT A 449 PASS - - - - - Del - D 55487815 55487824 3 21 431.867 - - 2 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 6 2 6 23 28 23 28 2 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668722188 6 56058893 CT C 360 PASS COL21A1 ENST00000244728 r.? - - Del intronic D 56058893 56058895 1 15 323.298 - - 1 1 1 COL21A1|ENST00000244728|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 COL21A1|ENST00000244728|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 2 4 4 4 21 32 21 32 4 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668724650 6 63132121 CAG C 509 PASS - - - - - Del - D 63132121 63132126 2 30 485.85 - - 2 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 4 8 5 20 9 20 9 8 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668725506 6 66490806 GTTCT G 507 PASS - - - - - Del - D 66490806 66490816 4 35 539.833 - - 2 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 4 6 5 6 23 18 23 18 5 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668729517 6 85165392 G GA 540 PASS - - - - - Ins - I 85165392 85165399 1 24 478.625 - - 6 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 2 7 5 9 6 12 6 12 5 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668730534 6 90757834 GTCTT G 269 PASS BACH2 CCDS5026.1 r.? - - Del intronic D 90757834 90757842 4 12 269.917 - - 1 1 1 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 20 20 20 0 0 ./. 3 2 6 6 10 11 10 11 6 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668737009 6 124475869 GTTC G 300 PASS NKAIN2 CCDS34526.1 r.? - - Del intronic D 124475869 124475878 3 12 268.712 - - 2 1 1 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 3 2 3 7 6 7 6 2 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668737683 6 129421061 GC G 480 PASS LAMA2 CCDS5138.1 r.? - - Del intronic D 129421061 129421064 1 24 431.867 - - 2 1 1 LAMA2|CCDS5138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LAMA2|CCDS5138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 23 9 23 0 0 ./. 3 5 3 7 6 8 6 8 3 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668739322 6 136237013 G GTAC 269 PASS PDE7B CCDS5175.1 r.? - - Ins intronic I 136237013 136237018 3 10 260.886 - - 1 1 1 PDE7B|CCDS5175.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE7B|CCDS5175.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 12 0 0 ./. 4 1 5 1 15 13 15 13 5 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668744929 6 159439130 GTAAAAAACCCCTAGCTGT G 319 PASS - - - - - Del - D 159439130 159439150 18 42 591.408 - - 1 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 5 5 5 8 11 9 11 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668745596 6 161989496 GCGCCTGTAGTCCCAGCTGCTCAGGAGGCTGA GCAC 290 PASS PARK2 CCDS5281.1 r.? - - Complex intronic DI 161989497 161989527 31 35 0 - - 0 1 1 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 6 0 0 6 8 8 12 4 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668748758 7 2554210 ATCCATCCATTCATCCATCCATCTGTCCATCCATTCATCTGTCTATCCATCCATCCATTCATCCATGCATCCATCCATCCGTTAGTCTGTCTGTCCTTTCACCTATCCTTCCAGCCATCCATACATCCATCTATCCATCTGTCCATTCACCTGTCCATCCATCCATCCATTCATCCATCCATGCATCCATCTGTCCATTCATCCATGCATCCATCCATCCATTCATCTGTCGGTCTGTCTG A 420 PASS LFNG ENST00000402506 r.? - - Del intronic D 2554210 2554460 240 14 377.201 - - 1 1 - LFNG|ENST00000402506|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LFNG|ENST00000402506|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 1 6 0 0 58 43 58 43 1 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668749258 7 3538996 G GT 449 PASS SDK1 CCDS34590.1 r.? - - Ins intronic I 3538996 3539005 1 24 423.862 - - 8 1 1 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 3 6 6 33 24 33 24 6 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668751496 7 7527909 CCA C 360 PASS COL28A1 CCDS43553.1 r.? - - Del intronic D 7527909 7527912 2 15 323.315 - - 1 1 1 COL28A1|CCDS43553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL28A1|CCDS43553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 2 4 2 7 21 31 21 31 2 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668754299 7 14610536 GT G 540 PASS DGKB CCDS47547.1 r.? - - Del intronic D 14610536 14610541 1 28 484.973 - - 4 1 1 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 6 5 8 29 28 29 28 5 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668754585 7 15446250 G GTG 297 PASS TMEM195 CCDS34604.1 r.? - - Ins intronic I 15446244 15446252 2 9 418.443 - - 3 1 - TMEM195|CCDS34604.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM195|CCDS34604.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 7 5 9 0 0 ./. 0 8 1 0 6 20 6 27 1 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668756015 7 19751420 G GA 900 PASS TWISTNB CCDS34606.1 r.? - - Ins upstream I 19751420 19751428 1 66 798.655 - - 7 1 1 TWISTNB|CCDS34606.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TWISTNB|CCDS34606.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 9 12 9 0 0 ./. 10 5 12 6 32 25 32 25 12 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668757171 7 22587615 C CA 720 PASS ENSG00000105889 ENST00000439708 r.? - - Ins intronic I 22587615 22587622 1 48 638.803 - - 6 1 1 ENSG00000105889|ENST00000439708|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENSG00000105889|ENST00000439708|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 7 5 8 7 33 23 33 23 8 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668759270 7 27979923 GT G 329 PASS JAZF1 CCDS5416.1 r.? - - Del intronic D 27979923 27979925 1 7 316.692 - - 1 1 1 JAZF1|CCDS5416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JAZF1|CCDS5416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 6 0 5 0 20 23 20 23 7 0 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668759908 7 29662124 CAGA C 329 PASS - - - - - Del - D 29662124 29662130 3 15 323.315 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 4 3 4 20 17 20 17 3 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668762208 7 35851785 ACT A 449 PASS SEPT7 ENST00000435235 r.? - - Del intronic D 35851785 35851789 2 21 428.678 - - 1 1 1 SEPT7|ENST00000435235|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SEPT7|ENST00000435235|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 2 12 3 41 25 41 25 12 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668762483 7 36540578 TTCTC T 360 PASS - - - - - Del - D 36540578 36540586 4 16 323.315 - - 3 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 3 6 5 18 30 18 30 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668767419 7 49507961 AT A 480 PASS - - - - - Del - D 49507961 49507968 1 21 430.485 - - 6 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 6 2 10 4 30 17 30 17 10 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668768540 7 52566519 AG A 600 PASS - - - - - Del - D 52566519 52566521 1 32 538.858 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 7 3 9 3 31 25 31 25 9 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668770331 7 56531088 GT G 420 PASS - - - - - Del - D 56531088 56531096 1 18 377.201 - - 7 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 2 8 3 24 33 24 33 8 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668775045 7 67626077 C CT 300 PASS - - - - - Ins - I 67626077 67626081 1 10 266.419 - - 3 1 1 - - ./. 0 0 0 0 12 28 12 29 0 0 ./. 1 4 3 5 25 22 25 22 3 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668780357 7 78848590 C CA 540 PASS MAGI2 CCDS5594.1 r.? - - Ins intronic I 78848590 78848597 1 30 476.544 - - 6 1 1 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 5 4 5 6 27 34 27 34 5 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668780677 7 79762918 TCTCTG T 476 PASS GNAI1 CCDS5595.1 r.? - - Del upstream D 79762918 79762926 5 35 537.052 - - 1 1 1 GNAI1|CCDS5595.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 GNAI1|CCDS5595.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 11 7 11 0 0 ./. 6 4 6 4 17 28 17 28 6 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668781289 7 81504000 GAATA G 418 PASS - - - - - Del - D 81504000 81504007 4 21 430.485 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 6 2 6 18 21 18 21 2 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668782509 7 85055560 TA T 300 PASS - - - - - Del - D 85055560 85055569 1 10 269.429 - - 8 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 4 1 5 3 30 20 30 20 5 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668782643 7 85372338 GT G 420 PASS - - - - - Del - D 85372338 85372344 1 20 377.201 - - 5 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 4 5 5 37 36 37 36 5 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668782735 7 85606922 AT A 360 PASS - - - - - Del - D 85606922 85606932 1 16 323.315 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 3 5 4 22 39 22 39 5 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668784389 7 90754993 G GA 540 PASS CDK14 CCDS5619.1 r.? - - Ins intronic I 90754993 90755003 1 30 478.952 - - 9 1 1 CDK14|CCDS5619.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 CDK14|CCDS5619.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 4 5 5 5 32 32 32 32 5 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668784735 7 91881507 TATTA T 1498 PASS ANKIB1 CCDS47639.1 r.? - - Del intronic D 91881507 91881512 4 196 1401.03 - - 1 1 1 ANKIB1|CCDS47639.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ANKIB1|CCDS47639.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 13 13 15 13 27 30 27 30 15 13 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668785464 7 94331636 G GA 600 PASS - - - - - Ins - I 94331636 94331644 1 27 532.838 - - 7 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 8 4 8 22 33 22 33 4 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668786962 7 98067579 C CT 600 PASS - - - - - Ins - I 98067579 98067588 1 35 531.634 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 6 5 7 27 34 27 34 5 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668788010 7 100225352 A AC 360 PASS TFR2 CCDS34707.1 r.? - - Ins intronic I 100225352 100225360 1 12 317.896 - - 7 1 1 TFR2|CCDS34707.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TFR2|CCDS34707.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 6 8 7 0 0 ./. 1 5 3 6 20 26 20 26 3 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668790074 7 104656713 TC T 780 PASS MLL5 CCDS34723.1 r.? - - Del intronic D 104656713 104656717 1 56 700.516 - - 3 1 1 MLL5|CCDS34723.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MLL5|CCDS34723.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 7 8 9 30 31 30 31 8 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668794429 7 117784166 AGTT A 567 PASS - - - - - Del - D 117784166 117784175 3 40 592.744 - - 2 1 1 - - ./. 0 0 0 0 17 5 17 5 0 0 ./. 7 4 7 5 31 32 31 32 7 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668797240 7 125764327 CTG C 360 PASS - - - - - Del - D 125764327 125764331 2 15 323.315 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 4 2 4 20 21 20 21 2 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668797879 7 127809815 AAGG A 420 PASS - - - - - Del - D 127809815 127809821 3 20 377.201 - - 1 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 4 4 5 27 20 27 20 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668798656 7 129233405 ACACC A 300 PASS - - - - - Del - D 129233405 129233411 4 12 268.827 - - 1 1 - - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 2 7 5 23 33 23 33 7 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668801481 7 135650500 AAAC A 300 PASS LUZP6 CCDS5842.1 r.? - - Del intronic D 135650500 135650509 3 12 269.429 - - 2 1 1 LUZP6|CCDS5842.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LUZP6|CCDS5842.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 2 3 16 20 16 20 2 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668801689 7 136272198 GA G 420 PASS - - - - - Del - D 136272198 136272207 1 20 377.201 - - 8 1 1 - - ./. 0 0 0 0 23 13 23 13 0 0 ./. 4 3 6 5 30 25 30 25 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668803889 7 141170605 C CAT 300 PASS ENSG00000230744 ENST00000437284 r.? - - Ins downstream I 141170605 141170619 2 12 262.807 - - 6 1 - ENSG00000230744|ENST00000437284|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ENSG00000230744|ENST00000437284|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 2 4 7 27 34 28 34 4 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668805545 7 146376442 T TC 300 PASS CNTNAP2 CCDS5889.1 r.? - - Ins intronic I 146376442 146376443 1 6 254.98 - - 0 1 - CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 0 8 2 21 23 21 23 8 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668805686 7 146758515 CTTTA C 300 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 146758515 146758525 4 10 269.429 - - 2 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 30 9 30 0 0 ./. 4 1 4 2 29 30 29 30 4 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668806961 7 149554026 CT C 420 PASS ZNF862 CCDS47741.1 r.? - - Del intronic D 149554026 149554031 1 18 377.201 - - 4 1 1 ZNF862|CCDS47741.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF862|CCDS47741.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 2 9 5 50 24 50 24 9 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668809366 7 154421107 CT C 540 PASS DPP6 ENST00000404039 r.? - - Del intronic D 154421107 154421116 1 28 484.973 - - 8 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 6 3 7 3 36 39 36 39 7 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668811259 8 282760 AAGAC A 389 PASS AC136777.1 ENST00000507258 r.? - - Del intronic D 282760 282772 4 18 372.557 - - 2 1 1 AC136777.1|ENST00000507258|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC136777.1|ENST00000507258|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 2 6 2 14 13 14 13 6 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668811323 8 552075 TGGAGGCCTGGAGGGAAG T 435 PASS - - - - - Del - D 552075 552098 17 72 805.647 - - 1 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 8 6 8 10 9 11 9 7 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668812742 8 5630507 GA G 300 PASS - - - - - Del - D 5630507 5630514 1 12 269.552 - - 6 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 2 5 2 23 11 23 11 5 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668817885 8 23638554 C CAG 838 PASS - - - - - Ins - I 23638554 23638571 2 66 790.595 - - 8 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 10 5 10 5 24 10 25 10 10 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668818564 8 26203695 C CA 480 PASS PPP2R2A CCDS34867.1 r.? - - Ins intronic I 26203695 26203697 1 9 424.661 - - 1 1 1 PPP2R2A|CCDS34867.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPP2R2A|CCDS34867.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 8 0 9 1 16 7 16 7 9 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668821603 8 34803460 T TA 300 PASS - - - - - Ins - I 34803460 34803463 1 10 266.542 - - 2 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 1 4 1 5 58 43 59 43 1 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668821739 8 35019299 A AAAAC 298 PASS - - - - - Ins - I 35019299 35019303 4 7 297.574 - - 0 1 - - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 0 6 0 13 61 39 63 39 0 13 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668822168 8 35943625 GCA G 360 PASS - - - - - Del - D 35943625 35943641 2 16 323.463 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 3 4 4 76 64 76 64 4 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668822322 8 36307094 G GA 480 PASS - - - - - Ins - I 36307094 36307104 1 24 426.467 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 5 3 7 4 53 80 53 81 7 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668823687 8 38052380 TG T 269 PASS BAG4 CCDS6104.1 r.? - - Del intronic D 38052380 38052382 1 6 268.95 - - 1 1 - BAG4|CCDS6104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAG4|CCDS6104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 0 25 0 228 185 228 185 25 0 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668823915 8 38210706 C CA 1140 PASS WHSC1L1 CCDS43729.1 r.? - - Ins intronic I 38210706 38210714 1 104 1011.66 - - 7 1 1 WHSC1L1|CCDS43729.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 WHSC1L1|CCDS43729.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 7 12 18 21 158 199 158 202 18 21 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668824192 8 38420537 T TC 449 PASS - - - - - Ins - I 38420537 38420538 1 16 413.824 - - 0 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 1 7 7 11 174 165 177 166 7 11 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668824932 8 39165329 AG A 480 PASS - - - - - Del - D 39165329 39165331 1 9 408.405 - - 1 1 - - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 8 0 23 0 136 139 136 139 23 0 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668825506 8 39922378 G GT 540 PASS - - - - - Ins - I 39922378 39922388 1 30 479.776 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 4 7 10 165 210 167 212 7 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668825509 8 39922541 A AC 1080 PASS - - - - - Ins - I 39922541 39922543 1 99 954.133 - - 1 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 8 10 16 13 163 203 164 204 16 14 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668826373 8 41038066 CTT C 420 PASS - - - - - Del - D 41038066 41038075 2 20 376.771 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 3 6 4 112 107 112 107 6 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668826607 8 41334470 G GC 300 PASS - - - - - Ins - I 41334470 41334475 1 12 257.511 - - 4 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 2 3 5 7 121 101 122 102 5 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668826940 8 41897260 G GT 295 PASS MYST3 CCDS6124.1 r.? - - Ins intronic I 41897260 41897270 1 10 266.542 - - 9 1 1 MYST3|CCDS6124.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYST3|CCDS6124.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 1 7 1 80 45 80 46 7 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668827713 8 43354450 CT C 300 PASS - - - - - Del - D 43354450 43354460 1 12 269.552 - - 9 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 3 4 4 31 26 31 26 4 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668827904 8 46940770 GA G 420 PASS - - - - - Del - D 46940770 46940778 1 8 377.373 - - 7 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 7 0 13 5 45 24 45 24 13 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668828740 8 49758529 A AT 420 PASS - - - - - Ins - I 49758529 49758533 1 20 373.159 - - 3 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 4 5 5 35 35 36 36 5 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668831150 8 56442267 CA C 540 PASS - - - - - Del - D 56442267 56442272 1 24 482.786 - - 4 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 7 6 10 24 44 24 44 6 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668832214 8 59723424 AT A 480 PASS TOX CCDS34897.1 r.? - - Del intronic D 59723424 59723431 1 21 427.069 - - 6 1 1 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 2 7 8 43 25 43 25 7 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668832338 8 60053655 GA G 389 PASS - - - - - Del - D 60053655 60053665 1 14 377.373 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 13 0 0 ./. 6 1 6 5 25 31 26 32 7 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668833029 8 62131506 AT A 480 PASS - - - - - Del - D 62131506 62131508 1 25 430.08 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 4 6 7 26 29 26 29 6 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668833060 8 62301181 CT C 780 PASS CLVS1 CCDS6176.1 r.? - - Del intronic D 62301181 62301188 1 54 700.836 - - 6 1 1 CLVS1|CCDS6176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLVS1|CCDS6176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 8 5 16 12 37 32 37 32 16 12 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668833192 8 62673535 G GT 360 PASS AC091173.1 ENST00000505627 r.869_870insa - - Ins non-coding variant I 62673535 62673545 1 12 312.626 - - 9 1 1 AC091173.1|ENST00000505627|r.869_870insa|-|-|non_protein_coding:exon:insertion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000667:SO:0001619 AC091173.1|ENST00000505627|r.869_870insa|-|-|non_protein_coding:exon:insertion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000667:SO:0001619 ./. 0 0 0 0 19 7 19 7 0 0 ./. 5 1 5 1 40 47 41 47 5 1 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668833498 8 63581287 TATTA T 300 PASS NKAIN3 ENST00000328472 r.? - - Del intronic D 63581287 63581298 4 12 269.552 - - 2 1 1 NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 2 3 3 3 20 43 20 43 3 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668835801 8 69589594 C CT 300 PASS C8orf34 CCDS6203.1 r.? - - Ins intronic I 69589594 69589604 1 12 266.542 - - 9 1 1 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C8orf34|CCDS6203.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 3 2 42 31 43 31 3 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668837917 8 74856495 G GA 360 PASS TCEB1 CCDS34910.1 r.? - - Ins downstream I 74856495 74856505 1 12 316.238 - - 9 1 1 TCEB1|CCDS34910.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TCEB1|CCDS34910.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 16 12 16 0 0 ./. 1 5 9 5 46 33 46 33 9 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668839289 8 78685062 AT A 457 PASS - - - - - Del - D 78685062 78685072 1 24 431.284 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 5 6 6 38 28 38 28 6 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668839378 8 78883462 AT A 540 PASS - - - - - Del - D 78883462 78883464 1 30 484.592 - - 1 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 4 5 6 9 30 37 30 37 6 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668840558 8 81992961 GTAAATT G 551 PASS PAG1 CCDS6227.1 r.? - - Del intronic D 81992961 81992972 6 90 1024.3 - - 1 1 1 PAG1|CCDS6227.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PAG1|CCDS6227.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 14 5 18 7 50 25 50 25 18 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668841657 8 85004592 AT A 360 PASS - - - - - Del - D 85004592 85004600 1 15 323.463 - - 7 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 2 7 5 31 44 31 44 7 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668841985 8 85941746 TGATGTACTCTACCAA T 261 PASS - - - - - Del - D 85941746 85941764 15 28 479.776 - - 1 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 6 3 6 3 35 23 35 23 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668843334 8 89695348 TAGAG T 478 PASS - - - - - Del - D 89695348 89695354 4 30 485.194 - - 2 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 4 5 5 6 26 24 26 24 5 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668843659 8 90556887 C CT 300 PASS - - - - - Ins - I 90556887 90556897 1 12 266.542 - - 9 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 2 3 2 5 42 30 44 31 2 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668844287 8 92565131 G GT 329 PASS - - - - - Ins - I 92565131 92565136 1 16 319.85 - - 4 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 3 3 7 3 41 35 42 35 7 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668847478 8 100327621 A ATT 300 PASS VPS13B CCDS6280.1 r.? - - Ins intronic I 100327621 100327629 2 10 263.532 - - 7 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 18 25 18 0 0 ./. 1 4 4 7 44 36 44 36 4 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668847645 8 100903998 C CTA 480 PASS COX6C CCDS6284.1 r.? - - Ins intronic I 100903998 100904003 2 25 421.651 - - 2 1 1 COX6C|CCDS6284.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COX6C|CCDS6284.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 4 4 5 37 30 37 31 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668848619 8 103191133 T TC 300 PASS - - - - - Ins - I 103191133 103191134 1 12 266.542 - - 0 1 1 - - ./. 0 0 0 0 13 13 14 13 0 0 ./. 2 3 2 4 30 28 30 28 2 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668849854 8 106126418 GAA G 840 PASS - - - - - Del - D 106126418 106126422 2 64 753.542 - - 3 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 7 7 8 7 44 32 44 32 8 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668850157 8 106943809 AGAATTT A 464 PASS - - - - - Del - D 106943809 106943816 6 77 862.567 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 10 6 9 7 31 31 32 31 10 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668850528 8 107824251 A AC 420 PASS - - - - - Ins - I 107824251 107824259 1 20 373.159 - - 7 1 1 - - ./. 0 0 0 0 10 15 10 16 0 0 ./. 4 3 7 6 35 40 35 40 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668853518 8 116463492 T TAC 840 PASS TRPS1 CCDS6318.2 r.? - - Ins intronic I 116463492 116463500 2 63 733.674 - - 3 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 8 6 8 9 32 36 32 37 8 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668853616 8 116646688 CTTAAAG C 290 PASS TRPS1 CCDS6318.2 r.? - - Del intronic D 116646688 116646699 6 20 539.105 - - 1 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 1 9 1 9 23 32 23 32 1 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668853987 8 117589668 C CT 300 PASS - - - - - Ins - I 117589668 117589678 1 10 256.909 - - 9 1 1 - - ./. 0 0 0 0 14 20 16 20 0 0 ./. 1 4 1 5 39 49 39 49 1 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668857754 8 126626252 ATG A 329 PASS - - - - - Del - D 126626252 126626270 2 16 323.463 - - 8 1 - - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 3 3 3 34 35 34 35 3 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668858848 8 129418054 T TAAAA 900 PASS - - - - - Ins - I 129418054 129418057 4 66 770.125 - - 2 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 10 6 12 20 41 20 41 6 12 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668861862 8 138015532 CAT C 840 PASS - - - - - Del - D 138015532 138015547 2 64 754.144 - - 7 1 - - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 7 7 15 14 39 24 39 24 15 14 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668862125 8 138632711 GA G 480 PASS - - - - - Del - D 138632711 138632721 1 21 430.682 - - 9 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 6 2 8 27 24 27 24 2 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668862857 8 140385692 T TC 360 PASS - - - - - Ins - I 140385692 140385697 1 16 318.044 - - 4 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 3 4 37 28 37 28 3 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668862954 8 140581875 CAG C 540 PASS - - - - - Del - D 140581875 140581880 2 24 482.786 - - 2 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 2 7 6 8 31 35 31 35 6 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668866129 9 3833902 GT G 420 PASS GLIS3 CCDS6451.1 r.? - - Del intronic D 3833902 3833911 1 18 379.005 - - 8 1 1 GLIS3|CCDS6451.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLIS3|CCDS6451.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 14 22 14 0 0 ./. 2 5 4 7 13 22 13 22 4 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668873070 9 28890374 AT A 360 PASS MIR873 ENST00000401120 r.? - - Del upstream D 28890374 28890376 1 15 324.861 - - 1 1 1 MIR873|ENST00000401120|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 MIR873|ENST00000401120|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 4 2 5 9 12 9 12 2 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668885364 9 89727939 TG T 420 PASS - - - - - Del - D 89727939 89727941 1 18 379.005 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 2 6 2 12 10 12 10 6 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668887447 9 96819853 AAC A 300 PASS PTPDC1 CCDS6707.1 r.? - - Del intronic D 96819853 96819868 2 12 266.503 - - 7 1 1 PTPDC1|CCDS6707.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPDC1|CCDS6707.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 2 3 2 25 30 25 30 3 2 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668887953 9 98375512 GA G 420 PASS - - - - - Del - D 98375512 98375522 1 20 379.005 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 3 7 5 23 17 23 17 7 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668889161 9 101886806 T TG 300 PASS TGFBR1 CCDS6738.1 r.? - - Ins intronic I 101886806 101886815 1 12 267.707 - - 8 1 1 TGFBR1|CCDS6738.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TGFBR1|CCDS6738.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 2 6 3 26 18 26 18 6 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668895369 9 119644678 CATAA C 507 PASS ASTN2 CCDS48009.1 r.? - - Del intronic D 119644678 119644690 4 32 539.629 - - 2 1 1 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 7 7 8 29 26 29 26 7 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668896999 9 124960434 GT G 720 PASS LHX6 CCDS6837.2 r.? - - Del downstream D 124960434 124960437 1 49 648.518 - - 2 1 1 LHX6|CCDS6837.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MORN5|CCDS6836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 6 6 8 10 18 17 18 17 8 10 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668897947 9 127853284 CT C 1440 PASS SCAI CCDS48017.1 r.? - - Del intronic D 127853284 127853286 1 133 1299.45 - - 1 1 1 SCAI|CCDS48017.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCAI|CCDS48017.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 18 6 20 8 28 9 28 9 20 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668898326 9 128711008 T TAC 360 PASS PBX3 CCDS6865.1 r.? - - Ins intronic I 128711008 128711010 2 7 317.637 - - 0 1 - PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 0 6 0 1 22 23 22 23 0 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668899623 9 131815215 GA G 480 PASS FAM73B CCDS6917.1 r.? - - Del intronic D 131815215 131815217 1 21 425.924 - - 1 1 1 FAM73B|CCDS6917.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM73B|CCDS6917.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 6 7 6 21 27 21 27 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668901678 9 136702326 A AG 780 PASS VAV2 CCDS48053.1 r.? - - Ins intronic I 136702326 136702333 1 56 696.039 - - 6 1 1 VAV2|CCDS48053.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VAV2|CCDS48053.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 7 6 7 8 22 25 22 25 7 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668903577 X 4399446 ACT A 600 PASS - - - - - Del - D 4399446 4399451 2 35 542.106 - - 2 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 6 4 6 6 8 15 8 15 6 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668903878 X 5540632 ACT A 480 PASS - - - - - Del - D 5540632 5540637 2 24 433.685 - - 2 1 1 - - ./. 0 0 0 0 24 17 24 17 0 0 ./. 5 3 8 3 16 11 16 11 8 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668905777 X 14845017 GTTTC G 480 PASS - - - - - Del - D 14845017 14845025 4 24 433.083 - - 1 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 5 4 4 13 15 13 15 4 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668906983 X 21373323 AG A 457 PASS - - - - - Del - D 21373323 21373326 1 21 433.685 - - 2 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 6 2 9 13 17 13 17 2 9 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668907578 X 24183660 AAGGTAGC A 319 PASS ZFX CCDS14211.1 r.? - - Del intronic D 24183660 24183672 7 40 596.316 - - 1 1 1 ZFX|CCDS14211.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZFX|CCDS14211.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 22 12 26 0 0 ./. 4 7 5 7 13 16 13 19 5 7 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668908716 X 31085295 CATATGTGGATATACACACATATACACACAT C 298 PASS FTHL17 CCDS14227.1 r.? - - Del downstream D 31085295 31085328 30 16 325.263 - - 1 1 - FTHL17|CCDS14227.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FTHL17|CCDS14227.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 20 19 20 19 0 0 ./. 3 3 0 0 37 25 37 25 3 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668910891 X 43922298 TAA T 480 PASS - - - - - Del - D 43922298 43922301 2 25 433.685 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 4 7 6 16 15 16 15 7 6 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668912297 X 51037216 TAA T 374 PASS - - - - - Del - D 51037216 51037220 2 20 379.474 - - 3 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 3 6 4 11 10 11 10 6 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668912429 X 51882632 CT C 480 PASS - - - - - Del - D 51882632 51882634 1 21 432.481 - - 1 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 2 9 3 18 6 18 6 9 3 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668913384 X 57705301 TC T 660 PASS - - - - - Del - D 57705301 57705304 1 36 594.51 - - 2 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 8 3 12 8 15 8 15 8 12 8 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668914175 X 67557370 GT G 509 PASS OPHN1 CCDS14388.1 r.? - - Del intronic D 67557370 67557379 1 28 474.65 - - 8 1 1 OPHN1|CCDS14388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OPHN1|CCDS14388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 6 3 6 4 16 17 16 17 6 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668917662 X 87222309 CTTTG C 540 PASS - - - - - Del - D 87222309 87222320 4 30 487.895 - - 2 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 5 4 6 5 17 15 17 15 6 5 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668918906 X 94525424 CTTCTT C 896 PASS - - - - - Del - D 94525424 94525432 5 88 917.365 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 7 10 7 12 9 15 9 15 7 12 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668918950 X 94980635 AG A 300 PASS - - - - - Del - D 94980635 94980638 1 12 271.053 - - 2 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 2 4 6 10 6 10 2 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668921693 X 112105518 CCTACTATGTGCTAGGGACAGTCACATATAATGTATTATTTAATAATCTCCCAAATACTATGCTATTTATTACCCATCCCATTTTTCTGATGAAGAAACTGAGTTTCAGAGAGGCTTGGTGACTTGCTTAAAGTCACAGGACTATTTAGTGACAGAGCTGGGATTTGAACCCAGCTCCT C 261 PASS - - - - - Del - D 112105518 112105699 178 30 487.895 - - 1 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 5 4 0 0 8 10 13 14 5 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668922256 X 114715761 GA G 360 PASS - - - - - Del - D 114715761 114715771 1 15 325.263 - - 9 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 4 4 12 13 12 13 4 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668924035 X 123083354 AC A 389 PASS - - - - - Del - D 123083354 123083356 1 20 379.474 - - 1 1 - - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 3 7 4 16 19 16 19 7 4 1 1 1 1 1 1 1 1 2579559 PD14469a PD14469b 2668927220 X 140553872 CT C 629 PASS - - - - - Del - D 140553872 140553876 1 40 596.316 - - 3 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 7 4 11 4 17 12 17 12 11 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665809249 1 26708568 C CA 300 PASS - - - - - Ins - I 26708568 26708578 1 12 264.416 - - 9 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 2 5 5 21 23 21 23 5 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665824376 1 73578911 G GA 540 PASS - - - - - Ins - I 73578911 73578920 1 30 478.116 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 5 7 8 17 21 17 21 7 8 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665836773 1 113549162 A AGT 836 PASS - - - - - Ins - I 113549162 113549163 2 80 840.352 - - 0 1 1 - - ./. 0 0 0 0 4 8 4 9 0 0 ./. 9 7 0 0 21 21 21 21 9 7 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665848859 1 160934672 G GA 329 PASS - - - - - Ins - I 160934672 160934682 1 12 317.54 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 5 1 6 27 56 27 56 1 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665850596 1 165100591 T TA 420 PASS - - - - - Ins - I 165100591 165100600 1 18 371.868 - - 8 1 1 - - ./. 0 0 0 0 8 7 8 8 0 0 ./. 2 5 6 7 30 37 30 38 6 7 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665872529 1 220414427 AT A 600 PASS RAB3GAP2 CCDS31028.1 r.? - - Del intronic D 220414427 220414430 1 27 537.261 - - 2 1 1 RAB3GAP2|CCDS31028.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB3GAP2|CCDS31028.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 8 2 11 5 34 28 34 28 11 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665876937 1 230969971 GAT G 269 PASS C1orf198 CCDS1587.1 r.? - - Del downstream D 230969971 230969988 2 12 255.385 - - 8 1 1 C1orf198|CCDS1587.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C1orf198|CCDS1587.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 3 2 3 24 26 24 26 2 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665900385 10 37513278 A AT 300 PASS ANKRD30A CCDS7193.1 r.? - - Ins intronic I 37513278 37513287 1 12 265.524 - - 8 1 1 ANKRD30A|CCDS7193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKRD30A|CCDS7193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 3 2 3 12 18 12 18 2 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665912934 10 74882328 ATTTAT A 360 PASS NUDT13 CCDS31220.1 r.? - - Del intronic D 74882328 74882339 5 12 323.686 - - 2 1 1 NUDT13|CCDS31220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUDT13|CCDS31220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 5 1 6 21 16 21 16 1 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665914605 10 79607424 GCA G 300 PASS DLG5 CCDS7353.2 r.? - - Del intronic D 79607424 79607442 2 12 269.738 - - 8 1 - DLG5|CCDS7353.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG5|CCDS7353.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 2 3 2 3 17 20 17 20 2 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665937428 11 9833582 G GT 300 PASS SBF2 CCDS31427.1 r.? - - Ins intronic I 9833582 9833592 1 12 264.256 - - 9 1 1 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 3 2 3 32 25 32 25 2 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665943899 11 28592915 AAAT A 540 PASS - - - - - Del - D 28592915 28592928 3 30 486.499 - - 4 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 5 4 6 5 17 21 17 21 6 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665958809 11 76772773 A AT 300 PASS - - - - - Ins - I 76772773 76772775 1 12 257.032 - - 1 1 - - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 3 3 3 18 28 18 28 3 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665990762 12 34582854 ATCT A 480 PASS - - - - - Del - D 34582854 34582862 3 24 432.461 - - 2 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 3 9 4 29 16 29 16 9 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2665999309 12 63314268 T TG 360 PASS PPM1H CCDS44934.1 r.? - - Ins intronic I 63314268 63314269 1 16 319.529 - - 0 1 1 PPM1H|CCDS44934.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPM1H|CCDS44934.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 3 3 3 3 16 32 16 32 3 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666005447 12 83211092 G GT 420 PASS TMTC2 CCDS9025.1 r.? - - Ins intronic I 83211092 83211100 1 20 372.985 - - 7 1 1 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 4 3 5 21 26 22 26 3 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666007984 12 92464477 TA T 600 PASS - - - - - Del - D 92464477 92464480 1 36 540.576 - - 2 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 5 5 6 19 17 19 17 5 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666014992 12 112243596 AGGTG A 509 PASS ALDH2 CCDS9155.1 r.? - - Del intronic D 112243596 112243606 4 28 486.519 - - 2 1 1 ALDH2|CCDS9155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALDH2|CCDS9155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 6 3 8 4 27 17 27 17 8 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666019480 12 123407656 AT A 300 PASS - - - - - Del - D 123407656 123407665 1 10 270.288 - - 8 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 1 4 3 5 18 19 18 19 3 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666057103 13 113115752 GT G 300 PASS - - - - - Del - D 113115752 113115754 1 12 270.924 - - 1 1 1 - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 3 2 4 5 24 18 24 18 4 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666068439 14 50520342 G GAA 420 PASS - - - - - Ins - I 50520342 50520344 2 20 371.22 - - 1 1 - - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 4 3 5 37 23 37 23 3 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666084934 14 98058166 CT C 420 PASS - - - - - Del - D 98058166 98058176 1 20 379.649 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 4 3 4 10 16 10 16 3 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666089281 15 21166526 A AT 365 PASS - - - - - Ins - I 21166526 21166533 1 12 590.145 - - 6 1 1 - - ./. 0 0 0 0 18 26 18 26 0 0 ./. 0 11 0 13 25 57 25 57 0 13 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666096799 15 42770289 C CA 300 PASS - - - - - Ins - I 42770289 42770299 1 12 268.248 - - 9 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 3 2 2 2 17 36 18 36 3 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666101002 15 54902307 G GT 420 PASS UNC13C CCDS45264.1 r.? - - Ins intronic I 54902307 54902317 1 20 375.547 - - 9 1 1 UNC13C|CCDS45264.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UNC13C|CCDS45264.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 22 10 22 0 0 ./. 3 4 4 4 23 25 23 25 4 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666102916 15 59824715 T TA 300 PASS - - - - - Ins - I 59824715 59824724 1 12 268.248 - - 8 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 3 3 4 34 15 34 15 3 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666105654 15 66679107 TA T 300 PASS MAP2K1 CCDS10216.1 r.? - - Del upstream D 66679107 66679109 1 12 270.656 - - 1 1 1 MAP2K1|CCDS10216.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 MAP2K1|CCDS10216.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 4 3 17 21 17 21 4 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666112219 15 86438810 G GT 360 PASS - - - - - Ins - I 86438810 86438820 1 15 320.693 - - 9 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 4 2 4 2 25 21 25 21 4 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666129695 16 26409235 G GT 540 PASS - - - - - Ins - I 26409235 26409244 1 30 481.814 - - 8 1 - - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 4 7 4 40 33 41 33 7 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666132312 16 32389455 G GT 332 PASS - - - - - Ins - I 32389455 32389465 1 16 427.61 - - 9 1 1 - - ./. 0 0 0 0 25 34 25 34 0 0 ./. 1 7 1 8 51 75 52 75 1 8 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666141655 16 71094016 G GT 300 PASS HYDIN2 CCDS42189.1 r.? - - Ins intronic I 71094016 71094024 1 10 268.009 - - 7 1 1 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 27 19 28 0 0 ./. 4 1 8 6 64 34 64 34 8 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666167985 17 51225808 A AT 300 PASS - - - - - Ins - I 51225808 51225818 1 12 268.028 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 2 6 2 28 23 28 23 6 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666170607 17 58957145 TA T 637 PASS BCAS3 CCDS45749.1 r.? - - Del intronic D 58957145 58957148 1 30 595.683 - - 2 1 1 BCAS3|CCDS45749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCAS3|CCDS45749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 9 2 14 2 30 16 30 16 14 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666182141 18 6105859 A AT 720 PASS L3MBTL4 CCDS11839.2 r.? - - Ins intronic I 6105859 6105864 1 33 639.754 - - 4 1 1 L3MBTL4|CCDS11839.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 L3MBTL4|CCDS11839.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 22 18 22 0 0 ./. 10 2 12 3 36 30 37 30 12 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666215236 19 20306698 AT A 300 PASS ZNF90 CCDS46029.1 r.? - - Del intronic D 20306698 20306708 1 12 270.139 - - 9 1 1 ZNF90|CCDS46029.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF90|CCDS46029.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 4 2 19 18 19 18 4 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666222566 19 40053034 TTTTGA T 269 PASS - - - - - Del - D 40053034 40053043 5 12 271.343 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 2 5 4 7 14 7 14 5 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666231066 19 57689664 C CA 300 PASS - - - - - Ins - I 57689664 57689673 1 10 263.516 - - 8 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 1 4 5 6 17 17 18 17 5 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666256066 2 73804596 G GT 300 PASS ALMS1 CCDS42697.1 r.? - - Ins intronic I 73804596 73804606 1 12 266.061 - - 9 1 1 ALMS1|CCDS42697.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ALMS1|CCDS42697.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 22 13 22 0 0 ./. 2 3 3 3 25 20 26 20 3 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666261444 2 91854211 AC A 379 PASS - - - - - Del - D 91854211 91854217 1 12 591.956 - - 5 1 1 - - ./. 0 0 0 0 36 16 36 16 0 0 ./. 11 0 13 0 64 41 64 41 13 0 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666292011 2 192959223 AGT A 300 PASS TMEFF2 CCDS2314.1 r.? - - Del intronic D 192959223 192959240 2 12 269.071 - - 8 1 - TMEFF2|CCDS2314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEFF2|CCDS2314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 3 2 4 22 23 22 23 2 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666295213 2 202855275 TA T 360 PASS - - - - - Del - D 202855275 202855284 1 15 322.885 - - 8 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 4 6 5 26 19 26 19 6 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666316666 20 23725927 G GT 300 PASS CST1 CCDS13160.1 r.? - - Ins downstream I 23725927 23725935 1 10 267.695 - - 7 1 1 CST1|CCDS13160.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CST1|CCDS13160.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 8 15 8 0 0 ./. 4 1 5 2 28 16 28 16 5 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666320561 20 33925834 T TA 360 PASS UQCC CCDS13252.1 r.? - - Ins intronic I 33925834 33925843 1 12 320.27 - - 8 1 1 UQCC|CCDS13252.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UQCC|CCDS13252.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 5 2 5 23 26 23 26 2 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666328254 20 55325238 G GT 300 PASS - - - - - Ins - I 55325238 55325248 1 12 266.491 - - 9 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 2 3 2 3 31 25 31 25 2 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666330294 20 62181559 G GC 418 PASS C20orf195 CCDS13526.1 r.? - - Ins upstream I 62181559 62181568 1 24 430.238 - - 8 1 1 C20orf195|CCDS13526.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 C20orf195|CCDS13526.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 10 4 10 4 0 0 ./. 3 5 5 7 13 21 13 22 5 7 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666332470 21 10618773 T TGGTGTATATACACACATATGCATATA 353 PASS - - - - - Ins - I 10618773 10618774 26 15 232.695 - - 0 1 - - - ./. 0 0 0 0 14 23 14 25 0 0 ./. 4 2 0 0 28 60 29 63 4 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666337807 21 23994017 AT A 600 PASS - - - - - Del - D 23994017 23994021 1 35 544.361 - - 3 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 6 4 9 4 27 16 27 16 9 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666339740 21 28856520 C CA 480 PASS - - - - - Ins - I 28856520 28856528 1 25 430.672 - - 7 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 4 4 5 5 26 17 27 18 5 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666340777 21 31819892 G GGA 300 PASS - - - - - Ins - I 31819892 31819909 2 10 264.354 - - 8 1 - - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 1 7 2 23 16 23 16 7 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666357803 22 48558664 CAACT C 298 PASS - - - - - Del - D 48558664 48558673 4 7 326.912 - - 2 1 1 - - ./. 0 0 0 0 4 10 4 10 0 0 ./. 0 6 0 5 5 18 5 19 0 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666366952 3 25361489 CT C 360 PASS RARB ENST00000404969 r.? - - Del intronic D 25361489 25361491 1 12 318.056 - - 1 1 1 RARB|ENST00000404969|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RARB|ENST00000404969|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 1 5 4 7 19 26 19 26 4 7 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666380545 3 68063853 T TA 360 PASS FAM19A1 ENST00000478136 r.? - - Ins intronic I 68063853 68063860 1 15 319.862 - - 6 1 1 FAM19A1|ENST00000478136|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM19A1|ENST00000478136|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 4 4 4 15 16 15 16 4 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666385128 3 79696980 G GA 449 PASS ROBO1 ENST00000464233 r.? - - Ins intronic I 79696980 79696989 1 24 425.279 - - 8 1 1 ROBO1|ENST00000464233|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ROBO1|ENST00000464233|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 3 5 5 5 17 14 17 14 5 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666391948 3 105891250 GGA G 300 PASS - - - - - Del - D 105891250 105891270 2 12 269.562 - - 9 1 - - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 2 3 2 18 21 18 21 3 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666409487 3 160945174 A AT 600 PASS NMD3 CCDS3194.1 r.? - - Ins intronic I 160945174 160945177 1 32 530.094 - - 2 1 1 NMD3|CCDS3194.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NMD3|CCDS3194.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 24 12 24 0 0 ./. 7 3 7 4 24 23 24 23 7 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666427556 4 16643662 G GA 300 PASS LDB2 CCDS3420.1 r.? - - Ins intronic I 16643662 16643670 1 12 266.427 - - 7 1 1 LDB2|CCDS3420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LDB2|CCDS3420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 2 3 2 26 26 28 27 3 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666437037 4 44180492 G GT 420 PASS KCTD8 CCDS3467.1 r.? - - Ins intronic I 44180492 44180501 1 14 372.998 - - 8 1 1 KCTD8|CCDS3467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCTD8|CCDS3467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 1 7 4 22 17 22 17 7 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666438459 4 49016827 AC A 600 PASS CWH43 CCDS3486.1 r.? - - Del intronic D 49016827 49016834 1 36 534.661 - - 6 1 1 CWH43|CCDS3486.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CWH43|CCDS3486.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 5 6 6 19 20 19 20 6 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666443010 4 63058721 T TA 300 PASS - - - - - Ins - I 63058721 63058729 1 12 266.427 - - 7 1 1 - - ./. 0 0 0 0 19 18 20 18 0 0 ./. 2 3 3 4 20 20 20 20 3 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666447615 4 76626191 A AT 327 PASS G3BP2 ENST00000511868 r.? - - Ins intronic I 76626191 76626199 1 20 369.988 - - 7 1 1 G3BP2|ENST00000511868|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 G3BP2|ENST00000511868|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 4 6 6 24 26 24 26 6 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666451276 4 88021274 A AT 509 PASS AFF1 CCDS3616.1 r.? - - Ins intronic I 88021274 88021276 1 24 479.569 - - 1 1 1 AFF1|CCDS3616.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AFF1|CCDS3616.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 21 8 21 0 0 ./. 2 7 6 8 24 21 24 21 6 8 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666481814 4 183595697 TTTTG T 360 PASS ODZ3 CCDS47165.1 r.? - - Del intronic D 183595697 183595712 4 15 323.325 - - 3 1 1 ODZ3|CCDS47165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ3|CCDS47165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 2 8 2 26 18 26 18 8 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666482193 4 184456233 TCAG T 296 PASS - - - - - Del - D 184456233 184456237 3 18 377.213 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 5 5 6 27 21 27 21 5 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666488006 5 5714682 GCT G 300 PASS - - - - - Del - D 5714682 5714702 2 12 269.835 - - 9 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 2 4 3 29 17 29 17 4 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666500487 5 41133672 T TA 420 PASS - - - - - Ins - I 41133672 41133682 1 18 368.738 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 19 0 0 ./. 5 2 6 4 18 16 18 16 6 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666509207 5 74170941 G GT 600 PASS - - - - - Ins - I 74170941 74170949 1 11 533.649 - - 7 1 - - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 10 0 11 1 24 18 26 19 11 1 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666510578 5 78511851 T TA 360 PASS - - - - - Ins - I 78511851 78511860 1 15 320.19 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 4 4 9 24 37 24 37 4 9 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666513415 5 87212518 GAAA G 600 PASS - - - - - Del - D 87212518 87212526 3 27 539.67 - - 7 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 8 2 9 18 27 18 27 2 9 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666517309 5 100951060 A AT 660 PASS - - - - - Ins - I 100951060 100951067 1 36 580.392 - - 6 1 1 - - ./. 0 0 0 0 12 16 12 17 0 0 ./. 3 8 4 8 30 28 30 28 4 8 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666542031 5 180013574 CTG C 420 PASS SCGB3A1 CCDS4456.1 r.? - - Del downstream D 180013574 180013578 2 20 377.769 - - 1 1 1 SCGB3A1|CCDS4456.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SCGB3A1|CCDS4456.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 4 8 16 19 16 19 4 8 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666552965 6 27572238 A AT 300 PASS - - - - - Ins - I 27572238 27572239 1 12 266.741 - - 0 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 4 2 26 19 27 19 4 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666572062 6 81445924 G GT 360 PASS - - - - - Ins - I 81445924 81445932 1 16 319.487 - - 7 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 3 3 5 18 23 19 23 3 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666579404 6 106221615 GA G 600 PASS - - - - - Del - D 106221615 106221624 1 32 539.502 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 7 4 8 10 22 10 22 4 8 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666598398 6 165603266 C CT 360 PASS - - - - - Ins - I 165603266 165603275 1 15 320.089 - - 8 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 2 4 5 22 21 22 21 4 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666601149 7 2560670 TG T 869 PASS LFNG CCDS34587.1 r.? - - Del intronic D 2560670 2560678 1 66 805.729 - - 7 1 1 LFNG|CCDS34587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LFNG|CCDS34587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 10 12 14 28 36 28 36 12 14 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666601568 7 3309571 GA G 629 PASS - - - - - Del - D 3309571 3309581 1 42 586.011 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 6 5 15 12 38 40 38 40 15 12 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666605671 7 12679441 A AT 509 PASS SCIN CCDS47545.1 r.? - - Ins intronic I 12679441 12679449 1 30 479.464 - - 7 1 1 SCIN|CCDS47545.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCIN|CCDS47545.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 23 10 23 0 0 ./. 4 5 8 9 26 36 26 36 8 9 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666608376 7 20398145 CAAAG C 687 PASS ITGB8 CCDS5370.1 r.? - - Del intronic D 20398145 20398154 4 56 699.783 - - 2 1 1 ITGB8|CCDS5370.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGB8|CCDS5370.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 6 7 6 9 18 33 19 33 7 9 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666610700 7 25871230 G GT 300 PASS - - - - - Ins - I 25871230 25871240 1 10 266.369 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 4 1 24 33 24 33 4 1 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666612515 7 30305327 A AT 780 PASS - - - - - Ins - I 30305327 30305336 1 54 692.558 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 8 11 10 31 35 31 35 11 10 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666614484 7 36101611 GTCT G 600 PASS - - - - - Del - D 36101611 36101621 3 36 533.941 - - 3 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 5 5 5 6 25 23 25 23 5 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666615540 7 38816280 G GT 749 PASS VPS41 CCDS5457.1 r.935_936insa c.880_881insA p.T294fs*10 Ins frameshift I 38816280 38816287 1 54 689.548 - - 6 1 1 VPS41|CCDS5457.1|r.935_936insa|c.880_881insA|p.T294fs*10|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 VPS41|CCDS5457.1|r.935_936insa|c.880_881insA|p.T294fs*10|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 8 9 12 26 32 26 33 9 12 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666616926 7 42414270 G GA 780 PASS - - - - - Ins - I 42414270 42414279 1 56 690.15 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 7 6 9 11 24 35 24 35 9 11 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666640703 7 100905517 T TAA 629 PASS - - - - - Ins - I 100905517 100905518 2 40 579.388 - - 0 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 4 9 8 34 24 34 24 9 8 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666641704 7 102688670 G GAT 480 PASS FBXL13 CCDS47678.1 r.? - - Ins intronic I 102688670 102688682 2 24 418.965 - - 5 1 1 FBXL13|CCDS47678.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FBXL13|CCDS47678.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 3 5 6 42 30 43 31 5 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666658628 7 147942878 TAC T 300 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 147942878 147942895 2 12 269.379 - - 8 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 2 4 29 31 29 31 2 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666663296 7 158317055 ATCTGCCCTGGAGTGGAGTCTGCCCTGGAGTGGAGTCGTCTGCCCTGGAGCGGAGTCTGCCCTGGAGTGGAGTCGTCTACCCTGGAGCGGAGTCTGCCCTGGAGCGGAGTCTGCCCTGGAGCGGAGTCTGCCCTGGAGTGGAGTCGTCTGCCCTGGAGTGGAG A 298 PASS PTPRN2 CCDS5949.1 r.? - - Del intronic D 158317055 158317252 162 15 322.653 - - 1 1 - PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 4 6 4 0 0 ./. 4 2 0 0 9 7 13 9 4 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666670170 8 17595561 TCA T 720 PASS MTUS1 CCDS43717.1 r.? - - Del intronic D 17595561 17595565 2 49 648.756 - - 1 1 1 MTUS1|CCDS43717.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTUS1|CCDS43717.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 6 6 6 22 22 22 22 6 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666688196 8 79192598 AAAT A 269 PASS - - - - - Del - D 79192598 79192620 3 10 270.315 - - 7 1 - - - ./. 0 0 0 0 3 10 3 10 0 0 ./. 1 4 1 4 23 25 23 25 1 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666694398 8 101970412 TC T 269 PASS YWHAZ CCDS6290.1 r.? - - Del upstream D 101970412 101970414 1 12 263.692 - - 1 1 1 YWHAZ|CCDS6290.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 YWHAZ|CCDS6290.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 3 12 3 12 0 0 ./. 3 2 4 2 18 23 18 23 4 2 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666703473 8 132051337 TGAG T 300 PASS ADCY8 CCDS6363.1 r.? - - Del intronic D 132051337 132051344 3 10 270.315 - - 2 1 1 ADCY8|CCDS6363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY8|CCDS6363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 19 9 19 0 0 ./. 1 4 3 6 15 26 15 26 3 6 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666703828 8 133351620 CT C 780 PASS KCNQ3 CCDS34943.1 r.? - - Del intronic D 133351620 133351622 1 56 701.615 - - 1 1 1 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 7 6 12 9 27 27 27 27 12 9 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666710593 9 8671926 T TA 420 PASS PTPRD CCDS43786.1 r.? - - Ins intronic I 8671926 8671928 1 20 373.989 - - 1 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 4 18 4 0 0 ./. 4 3 6 3 20 16 20 16 6 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666730512 9 88259767 T TA 360 PASS AGTPBP1 CCDS6672.1 r.? - - Ins intronic I 88259767 88259775 1 15 321.078 - - 7 1 1 AGTPBP1|CCDS6672.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGTPBP1|CCDS6672.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 2 4 4 28 19 28 19 4 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666730725 9 88698466 G GT 540 PASS GOLM1 CCDS35054.1 r.? - - Ins intronic I 88698466 88698475 1 30 481.617 - - 8 1 1 GOLM1|CCDS35054.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GOLM1|CCDS35054.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 4 12 5 28 24 28 24 12 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666738137 9 113241499 G GT 540 PASS SVEP1 CCDS48004.1 r.? - - Ins intronic I 113241499 113241508 1 24 478.607 - - 8 1 1 SVEP1|CCDS48004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SVEP1|CCDS48004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 14 9 0 0 ./. 2 7 3 9 13 25 13 25 3 9 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666738180 9 113350550 AG A 360 PASS - - - - - Del - D 113350550 113350552 1 15 324.691 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 2 7 3 23 18 23 18 7 3 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666739927 9 118014376 TTC T 420 PASS DEC1 CCDS6812.1 r.? - - Del intronic D 118014376 118014383 2 20 378.806 - - 3 1 1 DEC1|CCDS6812.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DEC1|CCDS6812.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 3 5 4 14 19 14 19 5 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666740358 9 119372224 A AT 480 PASS ASTN2 CCDS48009.1 r.? - - Ins intronic I 119372224 119372232 1 24 426.9 - - 7 1 1 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 14 8 0 0 ./. 3 5 6 5 16 14 16 14 6 5 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666758130 X 48537262 AAACCAGCTCC A 290 PASS WAS CCDS14303.1 r.? - - Del upstream D 48537262 48537275 10 35 542.104 - - 1 1 1 WAS|CCDS14303.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 WAS|ENST00000450772|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 4 13 4 0 0 ./. 6 4 6 4 23 11 23 11 6 4 1 1 1 1 1 1 1 1 2579551 PD14470a PD14470b 2666763988 X 86138255 CT C 360 PASS - - - - - Del - D 86138255 86138259 1 16 325.263 - - 3 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 3 3 6 15 9 15 9 3 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671347371 1 30950379 CTG C 449 PASS - - - - - Del - D 30950379 30950389 2 21 428.582 - - 4 1 - - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 6 5 7 12 19 12 19 5 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671368132 1 90932288 TG T 420 PASS - - - - - Del - D 90932288 90932290 1 18 376.063 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 2 6 2 18 12 18 12 6 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671369860 1 95245602 CA C 300 PASS - - - - - Del - D 95245602 95245604 1 12 268.616 - - 1 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 3 3 5 15 12 15 12 3 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671375845 1 113113798 CA C 360 PASS ST7L CCDS848.1 r.? - - Del intronic D 113113798 113113802 1 15 320.533 - - 3 1 1 ST7L|CCDS848.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST7L|CCDS848.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 4 6 4 24 27 24 27 6 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671379833 1 142820210 AG A 257 PASS - - - - - Del - D 142820210 142820215 1 16 429.786 - - 4 1 1 - - ./. 0 0 0 0 32 8 32 8 0 0 ./. 7 1 7 1 48 18 48 18 7 1 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671388500 1 159502749 A AAG 447 PASS OR10J5 CCDS30910.1 r.? - - Ins downstream I 159502749 159502751 2 30 461.835 - - 0 1 - OR10J5|CCDS30910.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 OR10J5|CCDS30910.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 16 10 18 10 0 0 ./. 4 5 0 0 35 41 38 41 4 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671389827 1 162189309 GA G 360 PASS NOS1AP CCDS1237.1 r.? - - Del intronic D 162189309 162189311 1 7 316.319 - - 1 1 1 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 0 6 0 7 29 42 29 42 0 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671398111 1 179827719 T TA 300 PASS TOR1AIP2 CCDS1334.1 r.? - - Ins intronic I 179827719 179827729 1 10 265.606 - - 9 1 1 TOR1AIP2|CCDS1334.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TOR1AIP2|CCDS1334.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 1 4 1 45 39 45 39 4 1 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671398949 1 181417097 TTTCTC T 598 PASS CACNA1E ENST00000367573 r.? - - Del intronic D 181417097 181417106 5 42 587.343 - - 1 1 1 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 6 6 6 40 43 40 43 6 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671400833 1 185217924 AAG A 420 PASS C1orf26 CCDS1367.1 r.? - - Del intronic D 185217924 185217928 2 8 367.032 - - 1 1 1 C1orf26|CCDS1367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf26|CCDS1367.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 7 0 10 0 47 41 47 41 10 0 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671405002 1 193592561 TGA T 660 PASS - - - - - Del - D 193592561 193592564 2 40 589.752 - - 1 1 - - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 7 4 15 13 36 41 37 42 15 13 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671406506 1 196999682 AAG A 360 PASS - - - - - Del - D 196999682 196999698 2 16 321.135 - - 7 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 3 3 3 43 36 43 36 3 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671407432 1 199025876 AAG A 300 PASS - - - - - Del - D 199025876 199025880 2 6 266.81 - - 1 1 - - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 5 0 10 0 55 27 55 27 10 0 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671411637 1 206087320 G GT 538 PASS - - - - - Ins - I 206087320 206087322 1 30 796.818 - - 1 1 1 - - ./. 0 0 0 0 10 2 10 2 0 0 ./. 14 1 16 2 33 6 33 6 16 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671412602 1 208362069 A AG 300 PASS PLXNA2 CCDS31013.1 r.? - - Ins intronic I 208362069 208362070 1 10 262.596 - - 0 1 - PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 12 0 0 ./. 1 4 2 8 50 54 50 54 2 8 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671413695 1 211233927 TA T 300 PASS KCNH1 CCDS31015.1 r.? - - Del intronic D 211233927 211233937 1 10 268.616 - - 9 1 1 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 1 4 1 6 50 56 50 56 1 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671415091 1 214597066 G GTAAACCCAGCA 348 PASS PTPN14 CCDS1514.1 r.? - - Ins intronic I 214597066 214597078 11 40 564.605 - - 1 1 1 PTPN14|CCDS1514.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPN14|CCDS1514.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 9 3 7 3 21 12 23 13 9 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671415441 1 215451014 G GA 277 PASS - - - - - Ins - I 215451014 215451023 1 12 265.606 - - 8 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 3 2 4 2 22 15 22 15 4 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671420997 1 231117537 ACTCTTTC A 261 PASS TTC13 CCDS1588.1 r.? - - Del upstream D 231117537 231117546 7 24 483.509 - - 1 1 1 TTC13|CCDS1588.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ARV1|CCDS1589.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 7 2 6 17 16 17 17 2 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671429337 10 672384 C CCCCCCGTCCCCGGGGTTACCCTCCGT 261 PASS DIP2C CCDS7054.1 r.? - - Ins intronic I 672384 672398 26 28 343.946 - - 0 1 1 DIP2C|CCDS7054.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DIP2C|CCDS7054.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 9 11 0 0 ./. 6 3 0 0 26 24 29 25 6 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671433627 10 10397809 C CA 540 PASS - - - - - Ins - I 10397809 10397819 1 30 474.593 - - 9 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 4 6 4 20 20 21 20 6 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671434698 10 12711249 C CAA 296 PASS CAMK1D CCDS7091.1 r.? - - Ins intronic I 12711249 12711250 2 20 369.128 - - 0 1 1 CAMK1D|CCDS7091.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CAMK1D|CCDS7091.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 11 10 0 0 ./. 3 4 0 0 30 30 32 31 3 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671435079 10 13414723 CT C 360 PASS - - - - - Del - D 13414723 13414730 1 16 323.62 - - 6 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 3 3 5 29 17 29 17 3 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671444657 10 34710410 G GT 269 PASS PARD3 CCDS7178.1 r.? - - Ins intronic I 34710410 34710420 1 10 254.03 - - 9 1 1 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 1 4 1 4 30 26 30 27 1 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671455952 10 67217108 T TTAAAATAAATAAATTAAAATAAATAAA 276 PASS - - - - - Ins - I 67217108 67217121 27 36 376.81 - - 0 1 1 - - ./. 0 0 0 0 9 9 10 9 0 0 ./. 5 5 1 3 10 17 14 19 5 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671471772 10 110375616 A AT 300 PASS - - - - - Ins - I 110375616 110375623 1 12 265.469 - - 6 1 1 - - ./. 0 0 0 0 20 8 20 9 0 0 ./. 3 2 3 3 17 20 17 21 3 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671473354 10 114862189 T TG 300 PASS TCF7L2 CCDS7576.1 r.? - - Ins intronic I 114862189 114862190 1 12 266.673 - - 0 1 1 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 2 3 2 3 36 14 36 14 2 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671479976 10 132267156 CCTT C 329 PASS - - - - - Del - D 132267156 132267160 3 15 323.62 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 4 3 5 25 19 25 19 3 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671479978 10 132274665 CCT C 300 PASS - - - - - Del - D 132274665 132274668 2 12 269.081 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 3 5 22 22 22 22 3 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671483642 11 6390234 TCTC T 296 PASS - - - - - Del - D 6390234 6390240 3 18 377.826 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 2 5 3 18 18 18 18 5 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671487064 11 15660697 A AAGAGAG 281 PASS - - - - - Ins - I 15660697 15660711 6 25 403.59 - - 6 1 - - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 4 4 1 2 32 29 32 29 4 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671489575 11 22278271 GT G 300 PASS ANO5 CCDS31444.1 r.? - - Del intronic D 22278271 22278281 1 12 270.306 - - 9 1 - ANO5|CCDS31444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO5|CCDS31444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 2 3 4 26 22 26 22 3 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671514983 11 92224271 G GA 360 PASS FAT3 CCDS44706.1 r.? - - Ins intronic I 92224271 92224277 1 16 320.152 - - 5 1 1 FAT3|CCDS44706.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAT3|CCDS44706.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 3 4 6 24 24 24 24 4 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671525191 11 125435897 C CA 300 PASS - - - - - Ins - I 125435897 125435907 1 10 266.693 - - 9 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 1 4 1 5 11 23 11 23 1 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671531408 12 8057801 TAAG T 569 PASS - - - - - Del - D 8057801 8057809 3 32 540.049 - - 2 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 7 3 7 18 27 18 27 3 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671538139 12 24799067 T TCA 300 PASS - - - - - Ins - I 24799067 24799086 2 10 264.004 - - 9 1 - - - ./. 0 0 0 0 12 14 12 15 0 0 ./. 4 1 1 0 25 31 25 31 4 1 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671541115 12 31956841 AAAG A 689 PASS - - - - - Del - D 31956841 31956845 3 49 648.059 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 6 6 7 10 20 26 20 26 7 10 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671550861 12 58673340 TG T 300 PASS - - - - - Del - D 58673340 58673342 1 6 268.218 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 0 7 0 52 34 52 34 7 0 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671553621 12 65959911 G GA 300 PASS - - - - - Ins - I 65959911 65959921 1 12 266.412 - - 9 1 1 - - ./. 0 0 0 0 17 5 17 5 0 0 ./. 2 3 2 4 44 52 44 52 2 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671554024 12 66749000 ATG A 360 PASS GRIP1 CCDS41807.1 r.? - - Del intronic D 66749000 66749017 2 15 324.03 - - 8 1 - GRIP1|CCDS41807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIP1|CCDS41807.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 4 2 4 39 58 39 58 3 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671555272 12 69670069 A AT 300 PASS MIR1279 CCDS8988.1 r.? - - Ins downstream I 69670069 69670079 1 10 264.004 - - 9 1 - MIR1279|CCDS8988.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MIR1279|CCDS8988.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 15 20 15 20 0 0 ./. 4 1 4 1 37 45 37 46 4 1 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671560959 12 84257034 TG T 420 PASS - - - - - Del - D 84257034 84257041 1 18 373.218 - - 6 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 5 2 11 4 18 15 18 15 11 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671566868 12 99438982 TTAC T 389 PASS ANKS1B ENST00000329257 r.? - - Del intronic D 99438982 99438988 3 14 378.035 - - 1 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 23 15 23 0 0 ./. 1 6 1 7 20 35 20 35 1 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671569132 12 105383734 TTTTTC T 269 PASS C12orf45 CCDS41825.1 r.? - - Del intronic D 105383734 105383743 5 12 270.025 - - 1 1 1 C12orf45|CCDS41825.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C12orf45|CCDS41825.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 2 3 2 5 31 28 31 28 2 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671571505 12 110574773 CAG C 360 PASS IFT81 CCDS41831.1 r.? - - Del intronic D 110574773 110574776 2 12 324.03 - - 1 1 1 IFT81|CCDS41831.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IFT81|CCDS41831.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 1 6 2 48 32 48 32 6 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671571512 12 110582044 CAG C 389 PASS IFT81 CCDS41831.1 r.? - - Del intronic D 110582044 110582049 2 18 375.626 - - 2 1 1 IFT81|CCDS41831.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IFT81|CCDS41831.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 5 2 11 3 44 41 44 41 11 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671589802 13 41395443 A AAT 300 PASS - - - - - Ins - I 41395443 41395445 2 12 264.757 - - 0 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 2 0 0 15 15 15 15 3 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671595095 13 57612812 AT A 360 PASS - - - - - Del - D 57612812 57612815 1 15 324.933 - - 2 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 2 4 3 28 16 28 16 4 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671598790 13 66099960 GA G 300 PASS - - - - - Del - D 66099960 66099970 1 12 270.175 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 4 3 25 27 25 27 4 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671599844 13 68905400 TAC T 277 PASS - - - - - Del - D 68905400 68905416 2 12 270.777 - - 7 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 3 3 30 18 30 18 3 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671601471 13 72709537 ACTCT A 329 PASS - - - - - Del - D 72709537 72709544 4 12 324.33 - - 3 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 5 1 6 20 35 20 35 1 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671606025 13 84101603 CCTT C 689 PASS - - - - - Del - D 84101603 84101609 3 48 649.865 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 7 9 9 31 32 31 32 9 9 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671608447 13 90074829 C CA 840 PASS - - - - - Ins - I 90074829 90074835 1 60 749.747 - - 5 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 9 5 9 7 41 41 41 42 9 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671609849 13 93748921 T TCC 300 PASS - - - - - Ins - I 93748921 93748930 2 6 264.154 - - 8 1 1 - - ./. 0 0 0 0 6 4 6 4 0 0 ./. 0 5 0 5 14 13 14 13 0 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671610108 13 94250397 A AAATAAT 319 PASS GPC6 CCDS9469.1 r.? - - Ins intronic I 94250397 94250418 6 40 547.545 - - 6 1 - GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 7 4 7 5 29 31 31 31 7 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671612589 13 99761993 C CA 300 PASS - - - - - Ins - I 99761993 99762003 1 10 264.154 - - 9 1 - - - ./. 0 0 0 0 5 18 5 18 0 0 ./. 1 4 1 4 28 50 29 51 1 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671612853 13 100317296 A AT 540 PASS CLYBL ENST00000376360 r.? - - Ins intronic I 100317296 100317305 1 24 477.164 - - 8 1 1 CLYBL|ENST00000376360|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLYBL|ENST00000376360|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 7 3 10 20 40 20 40 3 10 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671614467 13 103971072 A AT 660 PASS - - - - - Ins - I 103971072 103971079 1 42 587.883 - - 6 1 1 - - ./. 0 0 0 0 11 23 11 23 0 0 ./. 5 6 5 6 22 30 23 30 5 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671617767 13 111943947 G GA 1140 PASS ARHGEF7 CCDS45068.1 r.? - - Ins intronic I 111943947 111943953 1 98 1017.51 - - 5 1 1 ARHGEF7|CCDS45068.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGEF7|CCDS45068.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 13 11 21 24 40 25 40 11 21 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671628619 14 42557767 AT A 600 PASS - - - - - Del - D 42557767 42557771 1 36 541.801 - - 3 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 5 5 7 18 26 18 26 5 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671630057 14 46525873 G GT 300 PASS - - - - - Ins - I 46525873 46525883 1 12 267.288 - - 9 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 3 2 3 2 36 25 36 25 3 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671635716 14 57840045 TG T 540 PASS - - - - - Del - D 57840045 57840054 1 10 487.621 - - 8 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 9 0 17 4 52 23 52 23 17 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671636990 14 60461385 AATACTATG A 328 PASS - - - - - Del - D 60461385 60461394 8 70 812.702 - - 1 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 9 7 8 34 35 34 36 7 9 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671638198 14 63078735 AG A 720 PASS - - - - - Del - D 63078735 63078738 1 33 650.161 - - 2 1 1 - - ./. 0 0 0 0 15 24 15 24 0 0 ./. 2 10 3 12 25 38 25 38 3 12 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671639227 14 64942440 TG T 1565 PASS AKAP5 CCDS9764.1 r.? - - Del downstream D 64942440 64942444 1 189 1516.44 - - 3 1 1 AKAP5|CCDS9764.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AKAP5|CCDS9764.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 7 7 7 0 0 ./. 20 8 27 11 45 21 45 21 27 11 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671644489 14 79725871 C CAT 360 PASS NRXN3 CCDS9870.1 r.? - - Ins intronic I 79725871 79725881 2 7 317.856 - - 4 1 - NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 0 6 5 9 11 17 11 17 5 9 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671646217 14 85558939 CAT C 480 PASS - - - - - Del - D 85558939 85558951 2 16 433.441 - - 5 1 - - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 1 7 1 7 5 12 5 12 1 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671649848 14 96773888 G GT 420 PASS ATG2B CCDS9944.2 r.? - - Ins intronic I 96773888 96773893 1 20 375.046 - - 4 1 1 ATG2B|CCDS9944.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATG2B|CCDS9944.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 4 3 7 12 18 12 18 3 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671650039 14 97442143 G GA 360 PASS - - - - - Ins - I 97442143 97442152 1 12 321.468 - - 8 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 1 8 3 17 11 17 11 8 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671661688 15 39790267 G GCT 540 PASS - - - - - Ins - I 39790267 39790284 2 24 476.939 - - 8 1 1 - - ./. 0 0 0 0 7 8 8 8 0 0 ./. 2 7 2 7 24 27 24 27 2 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671665260 15 49199329 C CA 600 PASS SHC4 CCDS10130.1 r.? - - Ins intronic I 49199329 49199339 1 32 526.989 - - 9 1 1 SHC4|CCDS10130.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SHC4|CCDS10130.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 16 0 0 ./. 7 3 8 4 28 29 28 30 8 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671688104 16 5434627 CAGA C 929 PASS - - - - - Del - D 5434627 5434636 3 72 867.014 - - 2 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 11 5 15 7 27 23 27 23 15 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671689623 16 8265510 TTA T 449 PASS - - - - - Del - D 8265510 8265514 2 24 433.507 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 5 4 5 26 29 26 29 4 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671696316 16 22448149 AAAG A 258 PASS ENSG00000224154 ENST00000430965 r.17_19delAAG c.17_19delAAG p.E13delE Del inframe D 22448149 22448173 3 12 319.712 - - 7 1 - ENSG00000224154|ENST00000430965|r.17_19delAAG|c.17_19delAAG|p.E13delE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ENSG00000224154|ENST00000430965|r.17_19delAAG|c.17_19delAAG|p.E13delE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 1 5 2 28 23 28 23 6 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671699872 16 29902176 TCTC T 523 PASS SEZ6L2 CCDS10659.1 r.? - - Del intronic D 29902176 29902184 3 32 541.883 - - 2 1 1 SEZ6L2|CCDS10659.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEZ6L2|CCDS10659.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 7 8 9 29 32 29 32 8 9 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671716882 16 82735531 A ATGGGTGGGTGCAGT 261 PASS - - - - - Ins - I 82735531 82735547 14 30 410.029 - - 1 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 4 5 3 5 4 21 5 21 4 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671730803 17 30570436 C CATATATCATATATATCATATATGATATATGATATATG 269 PASS - - - - - Ins - I 30570436 30570459 37 24 286.886 - - 0 1 - - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 2 7 0 0 20 13 22 19 2 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671731195 17 31626224 A AACCAAAACAGCATGGTACTGGT 293 PASS ACCN1 CCDS42296.1 r.? - - Ins intronic I 31626224 31626257 22 24 367.562 - - 1 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 7 2 1 0 10 14 16 16 7 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671731473 17 32550622 C CT 269 PASS - - - - - Ins - I 32550622 32550631 1 12 259.323 - - 8 1 1 - - ./. 0 0 0 0 23 11 23 11 0 0 ./. 3 2 5 3 15 26 15 27 5 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671737427 17 48303910 AT A 300 PASS - - - - - Del - D 48303910 48303912 1 10 264.14 - - 1 1 1 - - ./. 0 0 0 0 3 14 3 14 0 0 ./. 1 4 1 5 33 48 33 48 1 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671739117 17 51630506 A AT 300 PASS - - - - - Ins - I 51630506 51630507 1 10 265.344 - - 0 1 1 - - ./. 0 0 0 0 12 8 12 9 0 0 ./. 4 1 5 1 70 33 72 34 5 1 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671739526 17 52612083 G GT 300 PASS - - - - - Ins - I 52612083 52612092 1 10 267.752 - - 8 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 4 1 5 2 36 33 36 34 5 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671744617 17 61663504 A AC 509 PASS KCNH6 CCDS11638.1 r.? - - Ins intronic I 61663504 61663505 1 10 481.953 - - 0 1 - KCNH6|CCDS11638.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 KCNH6|CCDS11638.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 0 9 3 2 43 32 43 32 3 11 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671746119 17 64460256 C CT 600 PASS PRKCA CCDS11664.1 r.? - - Ins intronic I 64460256 64460261 1 35 535.504 - - 4 1 1 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 6 7 10 28 45 29 45 7 10 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671746218 17 64627411 AT A 1260 PASS PRKCA CCDS11664.1 r.? - - Del intronic D 64627411 64627420 1 130 1136 - - 8 1 1 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 9 12 19 16 31 37 31 37 19 16 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671749422 17 70535297 C CCACA 300 PASS - - - - - Ins - I 70535297 70535303 4 6 258.721 - - 2 1 - - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 5 0 0 1 25 19 25 20 5 1 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671755896 18 292550 AAATT A 329 PASS - - - - - Del - D 292550 292560 4 16 325.822 - - 2 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 3 4 4 31 16 31 16 4 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671775142 18 57335650 A AAATAAT 261 PASS CCBE1 CCDS32838.1 r.? - - Ins intronic I 57335650 57335675 6 18 455.62 - - 8 1 - CCBE1|CCDS32838.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCBE1|CCDS32838.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 8 1 7 13 23 15 24 1 8 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671776675 18 61849401 AAG A 689 PASS - - - - - Del - D 61849401 61849404 2 48 651.043 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 5 7 9 10 19 20 19 20 9 10 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671781248 18 75962494 AC A 480 PASS - - - - - Del - D 75962494 75962496 1 24 434.43 - - 1 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 3 7 4 21 24 21 24 7 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671788048 19 11487972 C CT 300 PASS EPOR CCDS12260.1 r.? - - Ins downstream I 11487972 11487974 1 10 267.744 - - 1 1 1 EPOR|CCDS12260.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 EPOR|CCDS12260.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 3 14 3 0 0 ./. 4 1 6 1 31 14 31 14 6 1 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671797423 19 32548908 T TC 480 PASS - - - - - Ins - I 32548908 32548911 1 24 429.353 - - 2 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 5 5 5 18 15 18 15 5 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671802994 19 45433120 AAAG A 418 PASS - - - - - Del - D 45433120 45433126 3 21 432.965 - - 1 1 - - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 6 0 0 17 24 17 24 2 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671810433 19 58947111 C CA 420 PASS ZNF132 CCDS12980.1 r.? - - Ins intronic I 58947111 58947117 1 20 375.082 - - 5 1 1 ZNF132|CCDS12980.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF132|CCDS12980.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 4 4 4 28 23 29 23 4 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671821767 2 32263719 T TTG 300 PASS DPY30 CCDS1777.1 r.? - - Ins intronic I 32263719 32263721 2 12 254.031 - - 0 1 - DPY30|CCDS1777.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPY30|CCDS1777.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 2 4 2 27 14 27 14 4 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671822987 2 35041009 T TATACACATATATACACACACACAATGTGTATATATATAC 360 PASS - - - - - Ins - I 35041009 35041011 39 16 182.017 - - 0 1 - - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 3 0 0 14 19 14 19 3 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671825543 2 41615011 T TAA 300 PASS - - - - - Ins - I 41615011 41615021 2 12 263.062 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 2 1 0 24 22 24 22 4 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671826622 2 44087916 GCTGTATAGAATTCTCACCCTCTGGATAGAACTGTCACTATCTGT G 505 PASS ABCG8 CCDS1815.1 r.? - - Del intronic D 44087916 44087993 44 36 590.777 - - 1 1 1 ABCG8|CCDS1815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCG8|CCDS1815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 8 0 0 13 14 16 22 3 8 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671833555 2 63862765 G GA 420 PASS - - - - - Ins - I 63862765 63862771 1 20 372.501 - - 5 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 3 5 10 20 20 20 20 5 10 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671847801 2 106826506 TCTCTA T 269 PASS - - - - - Del - D 106826506 106826515 5 15 322.899 - - 1 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 4 2 6 4 22 17 22 17 6 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671851528 2 118489317 CAA C 300 PASS - - - - - Del - D 118489317 118489321 2 12 264.266 - - 3 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 3 2 5 12 10 12 10 2 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671852641 2 121790129 AG A 300 PASS - - - - - Del - D 121790129 121790139 1 10 269.082 - - 9 1 1 - - ./. 0 0 0 0 6 17 6 17 0 0 ./. 1 4 4 6 13 21 13 21 4 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671864127 2 154499163 AAG A 360 PASS - - - - - Del - D 154499163 154499171 2 15 322.899 - - 3 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 4 2 4 15 10 15 10 2 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671866203 2 161351047 CCAGA C 300 PASS RBMS1 CCDS2213.1 r.? - - Del upstream D 161351047 161351055 4 6 269.082 - - 1 1 1 RBMS1|CCDS2213.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 RBMS1|CCDS2213.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 4 11 4 0 0 ./. 5 0 8 1 32 12 32 12 8 1 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671874809 2 187156279 A AT 540 PASS - - - - - Ins - I 187156279 187156287 1 30 478.929 - - 7 1 1 - - ./. 0 0 0 0 16 19 17 19 0 0 ./. 4 5 9 7 29 17 30 17 9 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671895606 20 245668 T TG 389 PASS DEFB132 CCDS12993.1 r.? - - Ins downstream I 245668 245669 1 20 374.834 - - 0 1 - DEFB132|CCDS12993.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 DEFB132|CCDS12993.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 4 0 0 12 21 12 21 3 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671897815 20 5224486 TAA T 360 PASS - - - - - Del - D 5224486 5224494 2 16 325.931 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 3 4 4 14 19 14 19 4 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671917979 20 53785317 A AT 660 PASS - - - - - Ins - I 53785317 53785324 1 22 590.917 - - 6 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 1 10 3 12 21 27 21 28 3 12 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671920499 20 60033212 TTGATGACAGTGCTGATGCTGGTGGTGGCGGTGATGGTTATGGTCATGATGTTGA T 358 PASS CDH4 CCDS13488.1 r.? - - Del intronic D 60033212 60033270 54 20 373.63 - - 1 1 - CDH4|CCDS13488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH4|CCDS13488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 21 24 21 0 0 ./. 4 3 0 0 34 34 38 35 4 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671925957 21 16008143 T TTTATTATTA 435 PASS ENSG00000243440 ENST00000435732 r.? - - Ins intronic I 16008143 16008166 9 66 733.001 - - 7 1 - ENSG00000243440|ENST00000435732|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000243440|ENST00000435732|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 10 5 10 9 20 39 23 41 13 9 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671928637 21 21583320 CACAA C 389 PASS - - - - - Del - D 21583320 21583340 4 18 379.074 - - 4 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 2 6 3 34 22 34 22 6 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671928874 21 21994956 T TA 600 PASS - - - - - Ins - I 21994956 21994966 1 32 536.029 - - 9 1 1 - - ./. 0 0 0 0 15 13 16 13 0 0 ./. 3 7 6 9 41 30 42 30 6 9 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671934517 21 33982489 G GTACTGGTCTTATTCA 348 PASS C21orf59 CCDS13617.1 r.? - - Ins intronic I 33982489 33982506 15 13 543.534 - - 1 1 1 C21orf59|CCDS13617.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C21orf59|CCDS13617.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 0 12 0 6 14 25 15 32 0 12 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671940023 21 44061352 C CCA 480 PASS - - - - - Ins - I 44061352 44061354 2 9 424.368 - - 0 1 1 - - ./. 0 0 0 0 3 7 3 7 0 0 ./. 0 8 0 10 6 23 6 23 0 10 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671952262 22 43347284 CA C 269 PASS PACSIN2 CCDS43023.1 r.? - - Del intronic D 43347284 43347287 1 12 273.354 - - 2 1 1 PACSIN2|CCDS43023.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PACSIN2|CCDS43023.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 2 4 3 14 19 14 19 4 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671952470 22 43832377 AAGGCCTTCCCTTCTGTTTGGC A 261 PASS MPPED1 CCDS46723.1 r.? - - Del intronic D 43832377 43832403 21 28 491.436 - - 1 1 1 MPPED1|CCDS46723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MPPED1|CCDS46723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 6 3 6 10 17 11 17 4 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671958663 3 8326077 TAAG T 389 PASS ENSG00000234563 ENST00000446572 r.? - - Del intronic D 8326077 8326087 3 20 376.36 - - 3 1 1 ENSG00000234563|ENST00000446572|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000234563|ENST00000446572|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 3 4 4 20 22 20 22 4 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671969621 3 35793318 TATTC T 300 PASS ENSG00000172995 CCDS2661.1 r.? - - Del intronic D 35793318 35793324 4 10 269.258 - - 1 1 1 ENSG00000172995|CCDS2661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000172995|CCDS2661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 4 1 5 21 27 21 27 1 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671976460 3 54219306 CT C 300 PASS CACNA2D3 ENST00000474759 r.? - - Del intronic D 54219306 54219316 1 12 269.258 - - 9 1 1 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 2 3 2 21 22 21 22 3 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671976608 3 54755438 AT A 654 PASS CACNA2D3 ENST00000474759 r.? - - Del intronic D 54755438 54755440 1 42 592.368 - - 1 1 1 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 6 9 7 21 19 21 19 9 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671981004 3 65864208 AG A 420 PASS MAGI1 CCDS33781.1 r.? - - Del intronic D 65864208 65864210 1 8 376.962 - - 1 1 1 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 7 0 7 0 27 28 27 28 7 0 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671981859 3 68159120 C CT 360 PASS FAM19A1 ENST00000478136 r.? - - Ins intronic I 68159120 68159129 1 12 314.079 - - 8 1 1 FAM19A1|ENST00000478136|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM19A1|ENST00000478136|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 5 1 8 1 34 22 36 22 8 1 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671982030 3 68814568 AT A 269 PASS FAM19A4 CCDS2907.1 r.? - - Del intronic D 68814568 68814578 1 12 268.656 - - 9 1 1 FAM19A4|CCDS2907.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM19A4|CCDS2907.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 18 5 18 0 0 ./. 2 3 3 3 19 17 19 17 3 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671983550 3 72703719 CCAT C 480 PASS AC103560.1 ENST00000509224 r.? - - Del intronic D 72703719 72703729 3 21 429.007 - - 3 1 1 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 2 6 3 7 14 23 14 23 3 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671984478 3 75098169 TC T 660 PASS - - - - - Del - D 75098169 75098171 1 42 592.368 - - 1 1 1 - - ./. 0 0 0 0 22 8 22 8 0 0 ./. 5 6 6 8 17 23 17 23 6 8 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671990240 3 88787538 TA T 720 PASS - - - - - Del - D 88787538 88787546 1 49 646.22 - - 7 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 6 6 8 7 26 33 26 33 8 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671998720 3 114218556 C CT 480 PASS ZBTB20 CCDS2981.1 r.? - - Ins intronic I 114218556 114218565 1 25 425.997 - - 8 1 1 ZBTB20|CCDS2981.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZBTB20|CCDS2981.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 4 7 5 23 33 25 33 7 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2671999878 3 117427128 TA T 360 PASS - - - - - Del - D 117427128 117427132 1 16 320.1 - - 3 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 4 3 26 20 26 20 4 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672003210 3 125897794 T TAA 449 PASS ALDH1L1 CCDS3034.1 r.? - - Ins intronic I 125897794 125897799 2 16 409.741 - - 4 1 1 ALDH1L1|CCDS3034.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ALDH1L1|CCDS3034.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 1 7 1 0 33 25 34 25 2 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672007234 3 137502841 GGAT GTA 989 PASS - - - - - Complex - DI 137502842 137502844 3 90 0 - - 0 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 9 8 0 0 25 24 25 24 9 8 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672027714 3 188292497 CTG C 300 PASS LPP CCDS3291.1 r.? - - Del intronic D 188292497 188292513 2 12 269.258 - - 7 1 1 LPP|CCDS3291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPP|CCDS3291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 2 3 23 15 23 15 2 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672037201 4 15008471 CAT C 480 PASS CPEB2 CCDS3413.1 r.? - - Del intronic D 15008471 15008475 2 24 431.035 - - 1 1 1 CPEB2|CCDS3413.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPEB2|CCDS3413.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 3 5 3 12 16 12 16 5 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672040986 4 27414793 T TA 420 PASS - - - - - Ins - I 27414793 27414801 1 18 372.941 - - 7 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 5 4 5 15 21 16 21 4 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672049069 4 52960614 G GA 300 PASS SPATA18 CCDS3489.1 r.? - - Ins intronic I 52960614 52960623 1 12 266.387 - - 8 1 1 SPATA18|CCDS3489.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPATA18|CCDS3489.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 7 4 16 15 16 15 7 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672052413 4 62504223 TA T 360 PASS LPHN3 ENST00000512091 r.? - - Del intronic D 62504223 62504231 1 12 323.276 - - 7 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 1 7 2 26 22 26 22 7 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672056732 4 74058063 C CA 300 PASS ANKRD17 CCDS34004.1 r.? - - Ins intronic I 74058063 74058072 1 10 266.387 - - 8 1 - ANKRD17|CCDS34004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKRD17|CCDS34004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 4 1 6 3 32 27 32 27 6 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672065653 4 97527278 CA C 360 PASS - - - - - Del - D 97527278 97527280 1 16 323.276 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 3 3 3 34 16 34 16 3 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672069024 4 106374803 TAAAAG T 298 PASS PPA2 CCDS3667.1 r.254-9_254-5delcuuuu c.223-9_223-5delctttt p.? Del splice region D 106374803 106374815 5 15 320.266 - - 2 1 1 PPA2|CCDS3667.1|r.254-9_254-5delcuuuu|c.223-9_223-5delctttt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 PPA2|CCDS3667.1|r.254-9_254-5delcuuuu|c.223-9_223-5delctttt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 4 3 5 21 29 21 29 3 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672073993 4 120030661 GA G 780 PASS - - - - - Del - D 120030661 120030665 1 50 700.432 - - 3 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 9 5 14 11 26 11 26 5 14 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672074788 4 122056535 ACTT A 540 PASS TNIP3 CCDS3718.1 r.? - - Del intronic D 122056535 122056548 3 30 483.71 - - 4 1 - TNIP3|CCDS3718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNIP3|CCDS3718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 4 7 11 33 25 33 25 7 11 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672075909 4 125004724 TAA T 300 PASS - - - - - Del - D 125004724 125004728 2 12 269.397 - - 3 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 6 4 23 19 23 19 6 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672078673 4 132842510 AT A 407 PASS - - - - - Del - D 132842510 132842517 1 8 377.156 - - 6 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 0 7 2 10 12 36 12 36 2 10 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672081351 4 140090500 T TC 300 PASS ELF2 CCDS3744.1 r.? - - Ins intronic I 140090500 140090501 1 12 254.346 - - 0 1 - ELF2|CCDS3744.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ELF2|CCDS3744.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 2 0 0 18 14 19 14 3 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672094252 4 173191703 CATTT C 300 PASS GALNTL6 CCDS34104.1 r.? - - Del intronic D 173191703 173191710 4 10 269.397 - - 1 1 1 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 1 4 3 4 15 19 15 19 3 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672097838 4 181814610 C CAT 300 PASS - - - - - Ins - I 181814610 181814624 2 12 262.774 - - 6 1 - - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 2 6 4 16 21 16 21 6 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672105046 5 4877991 TC T 300 PASS ENSG00000224867 ENST00000416839 r.? - - Del intronic D 4877991 4877993 1 10 268.802 - - 1 1 1 ENSG00000224867|ENST00000416839|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000224867|ENST00000416839|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 1 4 1 4 16 35 16 35 1 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672106495 5 8531564 AT A 300 PASS - - - - - Del - D 8531564 8531573 1 10 266.996 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 1 4 3 6 20 42 20 42 3 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672109515 5 16518957 AT A 480 PASS FAM134B CCDS43304.1 r.? - - Del intronic D 16518957 16518961 1 21 431.046 - - 3 1 1 FAM134B|CCDS43304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM134B|CCDS43304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 6 4 7 28 28 28 28 4 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672117718 5 35115024 ACTCTT A 269 PASS PRLR CCDS3909.1 r.? - - Del intronic D 35115024 35115034 5 12 269.404 - - 1 1 1 PRLR|CCDS3909.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PRLR|CCDS3909.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 5 4 32 19 32 19 5 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672126984 5 63189490 AAG A 300 PASS - - - - - Del - D 63189490 63189510 2 12 269.404 - - 9 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 2 3 2 3 24 14 24 14 2 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672127122 5 63743154 G GA 660 PASS - - - - - Ins - I 63743154 63743164 1 40 580.648 - - 9 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 7 4 8 6 28 26 28 26 8 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672128922 5 68177773 G GAT 360 PASS - - - - - Ins - I 68177773 68177791 2 15 316.06 - - 8 1 - - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 2 6 4 35 31 36 31 6 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672131104 5 74203468 G GT 449 PASS - - - - - Ins - I 74203468 74203478 1 25 424.424 - - 9 1 1 - - ./. 0 0 0 0 9 13 10 13 0 0 ./. 4 4 5 5 27 30 28 30 5 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672137546 5 89825137 GCCGAGCCCGGCCCTGC G 261 PASS LYSMD3 CCDS43338.1 r.? - - Del intronic D 89825137 89825154 16 28 481.315 - - 1 1 1 LYSMD3|CCDS43338.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LYSMD3|CCDS43338.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 12 5 12 0 0 ./. 3 6 3 7 13 16 13 16 3 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672138958 5 94482161 CCTGTAAGTA C 261 PASS MCTP1 ENST00000515393 r.? - - Del intronic D 94482161 94482173 9 24 484.927 - - 1 1 1 MCTP1|ENST00000515393|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCTP1|ENST00000515393|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 7 2 10 2 27 14 27 14 10 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672146762 5 114307766 C CA 360 PASS - - - - - Ins - I 114307766 114307772 1 15 319.672 - - 5 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 4 4 4 25 21 26 21 4 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672150223 5 122727366 C CA 780 PASS CEP120 CCDS4134.2 r.? - - Ins intronic I 122727366 122727375 1 54 690.215 - - 8 1 1 CEP120|CCDS4134.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CEP120|CCDS4134.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 8 6 8 29 31 29 31 6 8 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672156341 5 138648039 GGCCTCCCAGAGT G 290 PASS SNHG4 CCDS4210.1 r.? - - Del intronic D 138648039 138648054 12 36 538.808 - - 1 1 1 SNHG4|CCDS4210.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNHG4|CCDS4210.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 5 4 5 12 16 13 16 5 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672159584 5 146759682 GA G 600 PASS STK32A CCDS47299.1 r.? - - Del intronic D 146759682 146759691 1 36 538.808 - - 8 1 1 STK32A|CCDS47299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK32A|CCDS47299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 5 7 6 25 32 25 32 7 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672160256 5 148687327 CT C 358 PASS AFAP1L1 CCDS34274.1 r.? - - Del intronic D 148687327 148687331 1 20 373.553 - - 3 1 1 AFAP1L1|CCDS34274.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFAP1L1|CCDS34274.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 3 7 5 22 17 22 17 7 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672171307 5 176429799 A AAAT 749 PASS UIMC1 CCDS4408.1 r.? - - Ins intronic I 176429799 176429820 3 50 676.368 - - 6 1 - UIMC1|CCDS4408.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 UIMC1|CCDS4408.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 4 9 4 13 21 36 24 36 4 13 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672179755 6 15229118 C CTTTGTTTTGT 551 PASS - - - - - Ins - I 15229118 15229146 10 104 910.59 - - 5 1 - - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 7 12 4 9 39 46 45 49 9 12 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672183682 6 24512905 G GTTTGT 629 PASS ALDH5A1 CCDS4555.1 r.? - - Ins intronic I 24512905 24512934 5 36 560.297 - - 5 1 - ALDH5A1|CCDS4555.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ALDH5A1|CCDS4555.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 15 12 0 0 ./. 8 3 11 5 36 23 36 23 11 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672184388 6 26441043 T TGTGC 298 PASS BTN3A3 CCDS4611.1 r.? - - Ins intronic I 26441043 26441045 4 12 306.821 - - 0 1 - BTN3A3|CCDS4611.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BTN3A3|CCDS4611.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 1 5 4 6 22 20 22 20 4 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672187633 6 33477183 G GC 300 PASS - - - - - Ins - I 33477183 33477187 1 10 266.722 - - 3 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 1 5 3 18 12 18 12 5 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672192691 6 47483336 G GA 1109 PASS CD2AP CCDS34472.1 r.? - - Ins intronic I 47483336 47483343 1 108 1008.73 - - 6 1 1 CD2AP|CCDS34472.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CD2AP|CCDS34472.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 8 11 13 13 20 28 20 29 13 13 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672192694 6 47491015 TATTA TC 569 PASS CD2AP CCDS34472.1 r.? - - Complex intronic DI 47491016 47491019 4 36 0 - - 0 1 1 CD2AP|CCDS34472.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 CD2AP|CCDS34472.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 5 5 0 0 15 19 15 19 5 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672193417 6 50040672 T TA 660 PASS - - - - - Ins - I 50040672 50040676 1 36 586.788 - - 3 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 8 7 10 16 23 16 23 7 10 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672200467 6 72102509 TA T 300 PASS - - - - - Del - D 72102509 72102513 1 10 269.732 - - 3 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 1 4 2 5 12 21 12 21 2 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672210317 6 103316545 C CA 300 PASS - - - - - Ins - I 103316545 103316553 1 6 266.722 - - 7 1 1 - - ./. 0 0 0 0 12 15 13 15 0 0 ./. 5 0 5 2 25 16 25 17 5 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672214418 6 114370370 TTC T 300 PASS - - - - - Del - D 114370370 114370374 2 6 267.926 - - 1 1 - - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 5 0 5 0 19 10 19 10 5 0 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672214522 6 114803087 GTCTTT G 269 PASS - - - - - Del - D 114803087 114803107 5 12 269.732 - - 3 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 2 3 3 27 17 27 17 3 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672220494 6 134500281 AT A 360 PASS SGK1 CCDS47476.1 r.? - - Del intronic D 134500281 134500288 1 16 323.678 - - 6 1 1 SGK1|CCDS47476.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGK1|CCDS47476.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 3 7 5 14 17 14 17 7 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672229559 6 160056137 A AAC 300 PASS - - - - - Ins - I 160056137 160056139 2 12 258.895 - - 0 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 3 2 21 29 21 29 3 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672230488 6 162460188 AC A 300 PASS PARK2 CCDS5281.1 r.? - - Del intronic D 162460188 162460190 1 12 266.722 - - 1 1 1 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 5 3 18 23 18 23 5 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672231628 6 165652290 AT A 600 PASS - - - - - Del - D 165652290 165652298 1 35 539.464 - - 7 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 6 4 7 7 18 15 18 15 7 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672241699 7 19127118 ATCT A 772 PASS - - - - - Del - D 19127118 19127123 3 84 916.669 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 11 6 12 10 37 24 37 24 12 10 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672246232 7 30027264 TA T 300 PASS SCRN1 CCDS5422.1 r.? - - Del intronic D 30027264 30027268 1 10 269.609 - - 3 1 1 SCRN1|CCDS5422.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SCRN1|CCDS5422.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 1 4 1 5 20 23 20 23 1 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672247729 7 33906573 AAAG A 329 PASS - - - - - Del - D 33906573 33906581 3 12 323.53 - - 2 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 5 1 6 17 32 17 32 1 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672249085 7 37559295 C CT 660 PASS - - - - - Ins - I 37559295 37559296 1 42 585.914 - - 0 1 - - - ./. 0 0 0 0 10 7 10 8 0 0 ./. 6 5 13 8 24 19 24 19 13 8 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672252059 7 45118242 ATGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAGAGTAATGAGGGGACATCAAGGCGG A 261 PASS NACAD CCDS47582.1 r.? - - Del downstream D 45118242 45118327 61 30 470.846 - - 1 1 1 NACAD|CCDS47582.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NACAD|CCDS47582.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 6 8 6 0 0 ./. 5 4 0 0 21 25 25 29 5 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672265788 7 78206524 AT A 342 PASS MAGI2 CCDS5594.1 r.? - - Del intronic D 78206524 78206529 1 12 323.53 - - 4 1 1 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 5 2 6 18 28 18 28 2 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672278040 7 110339624 CGA C 360 PASS IMMP2L CCDS5753.1 r.? - - Del intronic D 110339624 110339629 2 12 320.52 - - 2 1 1 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 1 5 1 6 14 14 14 14 1 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672278188 7 110835908 C CATTTCATTTCATTTTTGCTCTATCATTTCATTTCATTTT 300 PASS IMMP2L CCDS5753.1 r.? - - Ins intronic I 110835908 110835918 39 12 152.207 - - 0 1 - IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 2 0 0 23 32 23 32 3 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672288783 7 138986467 G GT 300 PASS UBN2 CCDS43655.1 r.7709_7710insu c.? p.? Ins 3'UTR variant I 138986467 138986477 1 10 266.598 - - 9 1 - UBN2|CCDS43655.1|r.7709_7710insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 UBN2|CCDS43655.1|r.7709_7710insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 17 17 17 18 0 0 ./. 1 4 1 4 33 38 34 38 1 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672292476 7 147611647 A AG 300 PASS CNTNAP2 CCDS5889.1 r.? - - Ins intronic I 147611647 147611648 1 12 264.19 - - 0 1 - CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 3 2 4 16 27 16 27 2 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672311320 8 38525990 G GGC 360 PASS - - - - - Ins - I 38525990 38525991 2 15 306.228 - - 0 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 4 2 4 26 20 26 20 2 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672313091 8 42119848 AAG A 300 PASS - - - - - Del - D 42119848 42119852 2 12 268.535 - - 1 1 - - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 3 2 42 29 42 29 3 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672314662 8 48892401 CTTGT C 269 PASS MCM4 CCDS6143.1 r.? - - Del downstream D 48892401 48892408 4 12 269.74 - - 1 1 1 MCM4|CCDS6143.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MCM4|CCDS6143.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 3 3 4 50 42 50 42 3 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672316348 8 53021655 GA G 360 PASS ST18 CCDS6149.1 r.? - - Del downstream D 53021655 53021658 1 15 323.688 - - 2 1 1 ST18|CCDS6149.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ST18|CCDS6149.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 4 4 7 28 35 28 35 4 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672323895 8 71354040 AAAGAAAGAAAGAAGAAA AAGAAAGAAGAAAG 319 PASS - - - - - Complex - DI 71354041 71354057 17 42 0 - - 0 1 - - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 5 0 0 50 33 52 35 6 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672330613 8 86432833 C CT 900 PASS - - - - - Ins - I 86432833 86432843 1 70 797.78 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 9 12 14 27 40 27 41 12 14 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672330721 8 86968196 GAAAACTAGAAAGTGAATCTTAGATTTAATGTAAAAAGTAATGAAGAATCTTAA G 464 PASS - - - - - Del - D 86968196 86968251 53 72 863.167 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 11 5 4 0 15 18 22 23 11 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672331911 8 89675548 TC T 1260 PASS - - - - - Del - D 89675548 89675550 1 130 1131.7 - - 1 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 9 12 12 21 25 36 25 36 12 21 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672332866 8 91901366 AAAT A 300 PASS NECAB1 CCDS47889.1 r.? - - Del intronic D 91901366 91901385 3 10 269.74 - - 6 1 1 NECAB1|CCDS47889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NECAB1|CCDS47889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 1 4 1 4 36 53 36 53 1 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672336515 8 100018693 A ACACAT 478 PASS - - - - - Ins - I 100018693 100018694 5 30 454.826 - - 0 1 - - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 5 4 5 4 36 17 36 17 5 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672339224 8 105883260 TAA T 1409 PASS - - - - - Del - D 105883260 105883264 2 168 1294.75 - - 3 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 13 11 18 15 46 31 46 31 18 15 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672339703 8 107075927 GCATGTGTCTTCACATTCTGCTTCTTAAAATATATTATATATAT GTATAAGGGCATGTGTCTTCACATTCTGCTTC 464 PASS - - - - - Complex - DI 107075928 107075970 43 81 0 - - 0 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 8 8 0 0 32 27 32 31 8 8 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672342407 8 113646978 C CT 300 PASS CSMD3 CCDS6315.1 r.? - - Ins intronic I 113646978 113646988 1 12 264.923 - - 9 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 2 3 4 5 34 32 34 32 4 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672343698 8 117069441 AAG A 300 PASS AF130342.1 ENST00000505156 r.? - - Del intronic D 117069441 117069460 2 12 269.74 - - 9 1 - AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 3 2 3 25 30 25 30 2 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672347020 8 124337530 A AT 420 PASS ATAD2 CCDS6343.1 r.? - - Ins intronic I 124337530 124337534 1 8 368.604 - - 3 1 - ATAD2|CCDS6343.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATAD2|CCDS6343.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 4 10 4 0 0 ./. 7 0 10 3 30 30 30 30 10 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672348407 8 127313337 GGGAAGGAGGAAAGGTGA G 290 PASS - - - - - Del - D 127313337 127313360 17 36 539.479 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 5 4 5 41 35 41 35 5 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672348598 8 127742833 TGGAAAGA T 348 PASS - - - - - Del - D 127742833 127742848 7 33 647.375 - - 2 1 1 - - ./. 0 0 0 0 10 4 10 4 0 0 ./. 10 2 9 2 45 26 46 26 10 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672350349 8 131877915 GTTTA G 540 PASS ADCY8 CCDS6363.1 r.? - - Del intronic D 131877915 131877927 4 30 485.531 - - 2 1 1 ADCY8|CCDS6363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY8|CCDS6363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 4 6 7 44 36 44 36 6 7 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672362902 9 23146414 G GA 300 PASS - - - - - Ins - I 23146414 23146421 1 10 267.758 - - 6 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 1 5 2 17 17 17 17 5 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672364827 9 29259197 ACCTGTCCACTGGG A 290 PASS - - - - - Del - D 29259197 29259214 13 35 541.536 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 4 5 4 18 13 19 13 6 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672373021 9 74079007 TC T 480 PASS - - - - - Del - D 74079007 74079016 1 21 433.229 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 6 3 9 10 26 10 26 3 9 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672381022 9 96424002 G GGGATGGATGGATGAGT 261 PASS PHF2 CCDS35069.1 r.? - - Ins intronic I 96424002 96424021 16 30 394.665 - - 1 1 - PHF2|CCDS35069.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PHF2|CCDS35069.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 5 1 2 26 25 28 27 4 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672382544 9 100859723 GCTCC G 329 PASS TRIM14 CCDS6734.1 r.? - - Del intronic D 100859723 100859728 4 16 323.115 - - 1 1 1 TRIM14|CCDS6734.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIM14|CCDS6734.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 3 5 4 14 18 14 18 5 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672385932 9 111132384 CCAGT CCTA 327 PASS - - - - - Complex - DI 111132385 111132388 4 18 0 - - 0 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 5 2 0 0 22 9 22 9 5 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672392116 9 128617191 T TCTAC 658 PASS PBX3 CCDS6865.1 r.? - - Ins intronic I 128617191 128617192 4 45 620.944 - - 0 1 1 PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 8 4 10 5 19 15 19 15 10 5 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672399313 X 9143052 AT A 389 PASS - - - - - Del - D 9143052 9143054 1 8 336.218 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 7 0 6 0 20 19 21 19 7 0 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672401175 X 15095390 AACTC A 627 PASS - - - - - Del - D 15095390 15095402 4 48 648.621 - - 2 1 1 - - ./. 0 0 0 0 11 2 11 2 0 0 ./. 5 7 6 8 18 21 18 21 6 8 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672402829 X 19835734 A AT 300 PASS SH3KBP1 CCDS14193.1 r.? - - Ins intronic I 19835734 19835741 1 10 267.248 - - 6 1 1 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 1 5 1 29 23 30 23 5 1 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672403342 X 21949089 C CA 360 PASS - - - - - Ins - I 21949089 21949097 1 7 320.096 - - 7 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 0 7 2 33 20 33 21 7 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672410964 X 45437147 T TG 360 PASS - - - - - Ins - I 45437147 45437155 1 12 316.484 - - 7 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 1 5 1 6 16 24 16 24 1 6 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672413345 X 53721684 TC T 660 PASS - - - - - Del - D 53721684 53721689 1 42 594.569 - - 4 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 6 7 9 22 27 22 27 7 9 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672420785 X 83023280 C CT 300 PASS - - - - - Ins - I 83023280 83023289 1 10 267.248 - - 8 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 4 1 5 2 17 26 17 26 5 2 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672424442 X 93629770 GAAA G 606 PASS - - - - - Del - D 93629770 93629775 3 36 593.967 - - 4 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 8 3 9 4 30 19 31 19 10 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672425684 X 97413133 AG A 840 PASS - - - - - Del - D 97413133 97413137 1 64 756.724 - - 3 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 7 7 10 9 28 26 28 26 10 9 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672426008 X 98645402 CTT C 360 PASS - - - - - Del - D 98645402 98645406 2 16 324.31 - - 3 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 3 4 3 24 18 24 18 4 3 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672438673 X 139085018 A AT 269 PASS - - - - - Ins - I 139085018 139085026 1 12 267.248 - - 7 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 2 4 28 20 28 20 2 4 1 1 1 1 1 1 1 1 2586477 PD14474a PD14474b 2672441152 X 146322238 AT A 360 PASS MIR508 ENST00000384857 r.? - - Del upstream D 146322238 146322241 1 15 323.708 - - 2 1 1 MIR508|ENST00000384857|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 MIR508|ENST00000384857|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 2 6 4 27 24 27 24 6 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517848795 1 59043554 TTAAA T 507 PASS TACSTD2 CCDS609.1 r.? - - Del upstream D 59043554 59043563 4 35 537.927 - - 2 1 1 TACSTD2|CCDS609.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TACSTD2|CCDS609.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 17 13 17 0 0 ./. 6 4 6 5 15 16 15 16 6 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517856156 1 82409523 AT A 360 PASS LPHN2 CCDS689.1 r.? - - Del intronic D 82409523 82409533 1 16 322.515 - - 9 1 1 LPHN2|CCDS689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPHN2|CCDS689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 3 4 3 23 26 23 26 4 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517856937 1 84984964 TG T 480 PASS SPATA1 CCDS44168.1 r.? - - Del intronic D 84984964 84984966 1 21 430.823 - - 1 1 1 SPATA1|CCDS44168.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPATA1|CCDS44168.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 6 3 6 23 29 23 29 3 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517862170 1 102402079 CATACTGCCAAA C 290 PASS OLFM3 CCDS30781.1 r.? - - Del intronic D 102402079 102402092 11 35 538.529 - - 1 1 1 OLFM3|CCDS30781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OLFM3|CCDS30781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 8 18 8 0 0 ./. 4 6 4 7 21 19 21 19 4 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517866129 1 115637066 A AT 300 PASS TSPAN2 CCDS881.1 r.? - - Ins upstream I 115637066 115637076 1 12 266.254 - - 9 1 1 TSPAN2|CCDS881.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TSPAN2|CCDS881.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 26 6 26 6 0 0 ./. 2 3 3 3 25 29 25 29 3 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517870349 1 145455117 CACTA C 300 PASS POLR3GL CCDS914.1 r.? - - Del downstream D 145455117 145455128 4 12 267.458 - - 2 1 1 POLR3GL|CCDS914.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 POLR3GL|CCDS914.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 5 3 24 23 24 23 5 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517872345 1 151690594 TGAGTCCCAGGGG T 348 PASS CELF3 CCDS1002.1 r.? - - Del upstream D 151690594 151690607 12 49 644.428 - - 1 1 1 CELF3|CCDS1002.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C1orf230|ENST00000326413|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 12 3 12 0 0 ./. 6 6 6 6 20 23 20 23 6 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517872825 1 153481468 C CAAAAA 294 PASS - - - - - Ins - I 153481468 153481478 5 24 394.097 - - 9 1 - - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 5 3 7 1 26 29 27 30 7 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517873645 1 156081885 CCTT C 269 PASS LMNA CCDS1129.1 r.? - - Del upstream D 156081885 156081892 3 12 268.662 - - 2 1 1 LMNA|CCDS1129.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LMNA|CCDS1131.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 2 3 2 3 19 15 19 15 2 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517878150 1 171119520 TA T 720 PASS FMO6P ENST00000367754 r.? - - Del intronic D 171119520 171119524 1 48 646.235 - - 3 1 1 FMO6P|ENST00000367754|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FMO6P|ENST00000367754|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 7 5 11 7 23 15 23 15 11 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517880857 1 180716734 TA T 720 PASS XPR1 CCDS1340.1 r.? - - Del intronic D 180716734 180716740 1 49 645.633 - - 5 1 1 XPR1|CCDS1340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XPR1|CCDS1340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 6 10 6 22 25 22 25 10 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517881769 1 183645718 CAG C 900 PASS RGL1 CCDS1359.1 r.? - - Del intronic D 183645718 183645721 2 72 807.793 - - 1 1 1 RGL1|CCDS1359.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RGL1|CCDS1359.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 8 22 8 0 0 ./. 8 7 12 8 34 30 34 30 12 8 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517888436 1 205030088 GC G 300 PASS CNTN2 CCDS1449.1 r.? - - Del intronic D 205030088 205030091 1 12 269.264 - - 2 1 1 CNTN2|CCDS1449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN2|CCDS1449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 15 4 15 0 0 ./. 3 2 7 5 14 16 14 16 7 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517893331 1 221799785 AT A 840 PASS - - - - - Del - D 221799785 221799791 1 55 753.94 - - 5 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 10 4 14 4 45 34 45 34 14 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517896123 1 231295187 A AG 660 PASS TRIM67 CCDS44333.1 r.? - - Ins upstream I 231295187 231295188 1 40 571.912 - - 0 1 - TRIM67|CCDS44333.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TRIM67|CCDS44333.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 17 8 18 8 0 0 ./. 4 7 6 9 25 20 26 20 6 9 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517897948 1 236681956 AT A 360 PASS LGALS8 CCDS1611.1 r.? - - Del upstream D 236681956 236681966 1 16 323.117 - - 9 1 1 LGALS8|CCDS1611.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LGALS8|CCDS1611.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 3 3 6 5 25 34 25 34 6 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517900515 1 243361612 T TC 420 PASS CEP170 CCDS44339.1 r.? - - Ins intronic I 243361612 243361615 1 18 372.756 - - 2 1 1 CEP170|CCDS44339.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CEP170|CCDS44339.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 5 2 5 23 29 23 29 2 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517914904 10 36073111 TTGTTTCTTTCTTTGCCTGAACATAGCCAAGCA T 261 PASS - - - - - Del - D 36073111 36073144 32 30 484.774 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 5 3 3 15 11 16 13 4 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517920273 10 56768907 TC T 300 PASS PCDH15 ENST00000373957 r.? - - Del intronic D 56768907 56768911 1 12 269.72 - - 3 1 1 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 2 3 3 21 21 21 21 3 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517931706 10 96110616 TACTCTAAGTATAAAATAC T 348 PASS NOC3L CCDS7433.1 r.? - - Del intronic D 96110616 96110654 18 49 648.171 - - 2 1 1 NOC3L|CCDS7433.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOC3L|CCDS7433.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 6 6 5 6 13 20 14 20 6 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517933963 10 103348187 G GT 420 PASS POLL CCDS7513.1 r.? - - Ins upstream I 103348187 103348195 1 20 374.237 - - 7 1 1 POLL|CCDS7513.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 DPCD|CCDS7514.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 13 12 0 0 ./. 3 4 4 4 26 24 26 25 4 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517945752 11 7085398 CAA C 389 PASS NLRP14 CCDS7776.1 r.? - - Del intronic D 7085398 7085401 2 20 378.893 - - 2 1 1 NLRP14|CCDS7776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NLRP14|CCDS7776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 4 5 6 16 20 16 20 5 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517949860 11 21071799 AC A 300 PASS NELL1 CCDS7855.1 r.? - - Del intronic D 21071799 21071801 1 10 270.638 - - 1 1 1 NELL1|CCDS7855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NELL1|CCDS7855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 1 16 3 42 17 42 17 16 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517970419 11 93046779 A AT 480 PASS - - - - - Ins - I 93046779 93046786 1 25 428.204 - - 6 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 4 4 6 6 18 22 19 22 6 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517979077 11 120368779 TAAACATTTAA T 348 PASS - - - - - Del - D 120368779 120368791 10 45 649.53 - - 1 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 8 4 9 5 28 19 28 20 9 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517982964 12 61641 T TTTTA 278 PASS - - - - - Ins - I 61641 61653 4 11 514.881 - - 2 1 1 - - ./. 0 0 0 0 24 28 25 28 0 0 ./. 10 0 10 0 105 85 105 86 10 0 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517992431 12 27816990 TTTTG T 358 PASS PPFIBP1 CCDS8713.1 r.? - - Del intronic D 27816990 27816998 4 18 378.96 - - 1 1 1 PPFIBP1|CCDS8713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPFIBP1|CCDS8713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 5 4 6 16 22 16 22 4 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2517994473 12 33670889 C CT 720 PASS - - - - - Ins - I 33670889 33670899 1 48 635.197 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 12 0 0 ./. 7 5 9 6 28 26 28 26 9 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518001506 12 60486593 AGT A 780 PASS - - - - - Del - D 60486593 60486596 2 54 703.784 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 8 6 9 25 30 25 30 6 9 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518008668 12 85603585 G GA 540 PASS LRRIQ1 CCDS41816.1 r.? - - Ins intronic I 85603585 85603594 1 18 481.816 - - 8 1 1 LRRIQ1|CCDS41816.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRIQ1|CCDS41816.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 8 1 8 4 27 25 27 25 8 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518009563 12 88854528 T TA 300 PASS - - - - - Ins - I 88854528 88854538 1 12 266.472 - - 9 1 1 - - ./. 0 0 0 0 5 16 5 17 0 0 ./. 2 3 2 3 27 46 27 46 2 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518010071 12 90844517 CTTTG C 360 PASS - - - - - Del - D 90844517 90844526 4 16 324.823 - - 2 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 3 3 4 12 40 12 40 3 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518010233 12 91394702 ATTG A 420 PASS EPYC CCDS31870.1 r.? - - Del intronic D 91394702 91394711 3 20 378.96 - - 2 1 1 EPYC|CCDS31870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPYC|CCDS31870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 3 4 4 7 19 27 19 27 4 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518015183 12 107874479 ATG A 300 PASS BTBD11 CCDS31893.1 r.? - - Del intronic D 107874479 107874497 2 12 269.482 - - 8 1 1 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 3 2 20 20 20 20 3 2 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518039584 13 66566469 G GA 300 PASS - - - - - Ins - I 66566469 66566479 1 12 265.198 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 3 4 21 30 21 30 3 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518054028 13 111662262 T TA 360 PASS - - - - - Ins - I 111662262 111662272 1 15 321.849 - - 9 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 4 2 6 21 26 21 27 2 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518055446 14 20356979 G GT 780 PASS - - - - - Ins - I 20356979 20356986 1 56 698.028 - - 6 1 1 - - ./. 0 0 0 0 29 40 30 41 0 0 ./. 7 6 11 9 77 64 77 65 11 9 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518064867 14 49682529 AT A 480 PASS - - - - - Del - D 49682529 49682533 1 16 434.372 - - 3 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 7 1 11 4 27 15 27 15 11 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518068449 14 60416003 G GT 290 PASS - - - - - Ins - I 60416003 60416006 1 11 536.944 - - 2 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 10 0 10 0 26 21 26 22 10 0 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518075856 14 85285792 G GT 900 PASS - - - - - Ins - I 85285792 85285799 1 70 801.202 - - 6 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 6 9 8 13 21 23 22 23 8 13 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518079167 14 96189024 TG T 480 PASS - - - - - Del - D 96189024 96189026 1 24 434.372 - - 1 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 5 6 6 18 18 18 18 6 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518086291 15 29650947 G GA 300 PASS FAM189A1 CCDS45198.1 r.? - - Ins intronic I 29650947 29650957 1 12 268.036 - - 9 1 1 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 2 3 27 25 28 25 2 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518088189 15 35629885 T TA 291 PASS - - - - - Ins - I 35629885 35629889 1 30 481.741 - - 3 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 4 6 8 30 24 30 26 6 8 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518109952 16 2061638 G GA 387 PASS ZNF598 ENST00000431526 r.? - - Ins upstream I 2061638 2061643 1 25 420.771 - - 4 1 1 ZNF598|ENST00000431526|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ZNF598|ENST00000431526|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 8 7 9 7 0 0 ./. 4 4 15 11 38 24 39 24 15 11 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518113156 16 8810755 GCTATT G 356 PASS ABAT CCDS10534.1 r.? - - Del intronic D 8810755 8810764 5 25 432.211 - - 1 1 1 ABAT|CCDS10534.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ABAT|CCDS10534.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 4 4 5 5 31 40 31 40 5 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518116958 16 17110360 TTG T 300 PASS - - - - - Del - D 17110360 17110377 2 12 271.26 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 3 3 31 58 31 58 3 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518137780 16 88254163 GC G 291 PASS - - - - - Del - D 88254163 88254168 1 10 488.269 - - 4 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 9 0 11 0 28 15 28 15 11 0 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518146388 17 28612087 GCTCTTTA G 261 PASS BLMH CCDS32604.1 r.? - - Del intronic D 28612087 28612095 7 30 489.056 - - 1 1 1 BLMH|CCDS32604.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BLMH|CCDS32604.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 5 6 6 21 27 21 27 6 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518159772 17 70481017 GAAAGAAAGA G 258 PASS - - - - - Del - D 70481017 70481029 9 21 434.717 - - 1 1 - - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 6 2 6 0 30 27 30 27 6 2 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518162109 17 77030828 T TA 420 PASS C1QTNF1 CCDS11761.1 r.? - - Ins intronic I 77030828 77030832 1 20 376.163 - - 3 1 1 C1QTNF1|CCDS11761.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C1QTNF1|CCDS11761.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 9 6 10 0 0 ./. 3 4 8 7 23 25 23 26 8 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518165341 18 4295769 TAAGTA T 449 PASS - - - - - Del - D 4295769 4295779 5 25 434.747 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 4 4 6 21 27 21 27 4 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518169064 18 18593858 T TA 480 PASS ROCK1 CCDS11870.2 r.? - - Ins intronic I 18593858 18593867 1 24 422.104 - - 8 1 1 ROCK1|CCDS11870.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROCK1|CCDS11870.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 3 8 3 23 21 23 21 8 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518181756 18 63621928 CTGGGGCTGGGGACC CCCAG 261 PASS - - - - - Complex - DI 63621929 63621942 14 28 0 - - 0 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 6 0 0 15 16 15 16 3 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518186512 18 77828400 AT A 360 PASS - - - - - Del - D 77828400 77828403 1 16 326.06 - - 2 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 3 7 3 12 24 12 24 7 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518203197 19 49293216 GT G 300 PASS - - - - - Del - D 49293216 49293218 1 6 263.435 - - 1 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 0 5 0 11 11 11 11 5 0 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518215862 2 32447217 G GTTA 389 PASS SLC30A6 CCDS1780.1 r.2858_2859insuua c.? p.? Ins 3'UTR variant I 32447217 32447223 3 20 364.763 - - 1 1 1 SLC30A6|CCDS1780.1|r.2858_2859insuua|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 SLC30A6|CCDS1780.1|r.2858_2859insuua|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 13 14 13 15 0 0 ./. 4 3 4 4 23 23 23 23 4 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518219356 2 43452021 AG A 389 PASS ZFP36L2 CCDS1811.1 r.1215delC c.921delC p.S308fs*153 Del frameshift D 43452021 43452024 1 20 368.376 - - 2 1 1 ZFP36L2|CCDS1811.1|r.1215delC|c.921delC|p.S308fs*153|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ZFP36L2|CCDS1811.1|r.1215delC|c.921delC|p.S308fs*153|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 3 7 5 19 17 19 17 7 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518224792 2 64416273 G GA 480 PASS - - - - - Ins - I 64416273 64416278 1 24 426.505 - - 4 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 5 3 6 5 18 19 19 19 6 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518236669 2 112390571 C CGT 360 PASS - - - - - Ins - I 112390571 112390589 2 12 314.461 - - 8 1 1 - - ./. 0 0 0 0 6 14 6 15 0 0 ./. 1 5 3 8 15 27 16 27 3 8 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518254762 2 176150282 AG A 360 PASS - - - - - Del - D 176150282 176150284 1 16 323.491 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 3 5 6 27 20 27 20 5 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518262871 2 205665069 GA G 420 PASS PARD3B CCDS42806.1 r.? - - Del intronic D 205665069 205665077 1 14 376.805 - - 7 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 6 16 6 0 0 ./. 1 6 1 8 14 19 14 19 1 8 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518263581 2 208263981 TC T 300 PASS - - - - - Del - D 208263981 208263984 1 10 269.576 - - 2 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 1 4 1 5 31 25 31 25 1 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518278403 20 14848038 CT C 300 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 14848038 14848042 1 10 272.29 - - 3 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 4 2 4 17 32 17 32 2 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518280050 20 19919061 GT G 420 PASS RIN2 ENST00000255006 r.? - - Del intronic D 19919061 19919063 1 20 380.002 - - 1 1 1 RIN2|ENST00000255006|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIN2|ENST00000255006|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 4 3 9 16 22 16 22 3 9 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518280359 20 21160180 A AT 660 PASS - - - - - Ins - I 21160180 21160189 1 36 591.813 - - 8 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 8 3 11 4 33 23 33 23 11 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518282612 20 29592075 GT G 313 PASS - - - - - Del - D 29592075 29592077 1 12 599.038 - - 1 1 1 - - ./. 0 0 0 0 79 41 79 41 0 0 ./. 11 0 11 1 153 97 153 97 11 1 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518284212 20 33081045 CAG C 360 PASS ITCH CCDS13234.1 r.? - - Del intronic D 33081045 33081052 2 15 326.748 - - 3 1 1 ITCH|CCDS13234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITCH|CCDS13234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 4 3 8 20 36 20 36 3 8 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518286477 20 42427701 A AT 300 PASS - - - - - Ins - I 42427701 42427711 1 10 267.474 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 1 4 1 4 15 27 15 27 1 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518292301 20 60684068 G GAGTAC 478 PASS - - - - - Ins - I 60684068 60684075 5 30 463.029 - - 1 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 5 5 5 25 24 25 24 5 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518294026 21 9939719 AT A 264 PASS ENSG00000227328 ENST00000416067 r.? - - Del intronic D 9939719 9939728 1 30 490.227 - - 8 1 1 ENSG00000227328|ENST00000416067|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000227328|ENST00000416067|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 77 31 77 31 0 0 ./. 4 5 6 5 178 55 178 55 6 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518311907 22 25530343 ATG A 300 PASS KIAA1671 CCDS46676.1 r.? - - Del intronic D 25530343 25530361 2 12 271.12 - - 8 1 1 KIAA1671|CCDS46676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1671|CCDS46676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 3 3 3 21 26 21 26 3 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518313976 22 32061078 GATAAGGATATTTGCTCA G 327 PASS PISD ENST00000439502 r.? - - Del upstream D 32061078 32061096 17 40 556.608 - - 1 1 1 PISD|ENST00000439502|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000251232|ENST00000422296|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 7 4 6 4 23 18 24 18 7 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518317772 22 43395454 TCACCTGAGGTTGGGAATTCAAGA T 377 PASS PACSIN2 CCDS43023.1 r.? - - Del intronic D 43395454 43395479 23 26 709.97 - - 1 1 1 PACSIN2|CCDS43023.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PACSIN2|CCDS43023.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 12 1 12 1 30 11 30 11 12 1 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518318686 22 46227264 AT A 420 PASS ATXN10 CCDS14070.1 r.? - - Del intronic D 46227264 46227269 1 20 373.909 - - 4 1 1 ATXN10|CCDS14070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATXN10|CCDS14070.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 4 5 6 29 28 29 28 5 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518321707 3 4858237 AT A 600 PASS ITPR1 CCDS46740.1 r.? - - Del intronic D 4858237 4858244 1 32 539.544 - - 6 1 1 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 7 7 9 24 21 24 21 7 9 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518336481 3 61294262 GCCTT G 749 PASS - - - - - Del - D 61294262 61294267 4 56 701.587 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 6 8 8 16 21 16 21 8 8 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518343563 3 82894443 G GA 410 PASS - - - - - Ins - I 82894443 82894453 1 25 423.688 - - 9 1 1 - - ./. 0 0 0 0 15 14 16 14 0 0 ./. 4 4 6 6 23 29 23 30 6 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518348727 3 103995705 C CA 420 PASS - - - - - Ins - I 103995705 103995713 1 20 373.888 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 4 6 7 23 26 23 26 6 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518356938 3 133253717 TA T 300 PASS - - - - - Del - D 133253717 133253723 1 10 269.471 - - 5 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 1 6 1 21 19 21 19 6 1 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518363451 3 157670552 GA G 360 PASS - - - - - Del - D 157670552 157670556 1 16 324.087 - - 3 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 5 3 16 22 16 22 5 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518378896 4 12255334 GA G 840 PASS - - - - - Del - D 12255334 12255338 1 63 752.881 - - 3 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 8 9 11 25 28 25 28 9 11 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518385028 4 31608804 CA C 360 PASS - - - - - Del - D 31608804 31608806 1 15 322.835 - - 1 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 2 4 5 7 30 24 30 24 5 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518395652 4 65080708 G GA 420 PASS - - - - - Ins - I 65080708 65080718 1 18 369.517 - - 9 1 - - - ./. 0 0 0 0 12 21 12 22 0 0 ./. 2 5 4 8 30 28 30 30 4 8 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518409136 4 108994643 C CA 269 PASS LEF1 CCDS3679.1 r.? - - Ins intronic I 108994643 108994652 1 10 265.919 - - 8 1 1 LEF1|CCDS3679.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LEF1|CCDS3679.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 4 1 4 2 31 32 31 33 4 2 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518410365 4 113065425 AATGG A 569 PASS C4orf32 CCDS3695.1 r.? - - Del upstream D 113065425 113065435 4 35 539.062 - - 2 1 1 C4orf32|CCDS3695.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C4orf32|CCDS3695.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 12 10 12 0 0 ./. 6 4 6 5 22 29 22 29 6 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518411702 4 117302991 G GA 300 PASS - - - - - Ins - I 117302991 117303001 1 12 265.317 - - 9 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 2 3 2 40 37 40 38 3 2 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518422201 4 150439659 C CT 780 PASS - - - - - Ins - I 150439659 150439668 1 54 692.954 - - 8 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 8 5 9 9 24 37 25 37 9 9 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518426183 4 162444084 AT A 300 PASS FSTL5 CCDS3802.1 r.? - - Del intronic D 162444084 162444090 1 12 265.919 - - 5 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 3 2 3 2 32 27 32 27 3 2 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518432125 4 179523051 C CACAG 329 PASS - - - - - Ins - I 179523051 179523055 4 16 301.763 - - 0 1 - - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 3 3 4 3 11 13 11 13 4 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518440000 5 7186945 AT A 360 PASS - - - - - Del - D 7186945 7186955 1 15 324.219 - - 9 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 2 6 3 8 6 8 6 6 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518440414 5 8323244 A AC 300 PASS - - - - - Ins - I 8323244 8323252 1 12 265.366 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 5 2 28 18 28 18 5 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518446278 5 26631993 AC A 360 PASS - - - - - Del - D 26631993 26631995 1 16 324.219 - - 1 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 3 4 4 18 21 18 21 4 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518446287 5 26664249 CCAAA C 387 PASS - - - - - Del - D 26664249 26664256 4 21 432.292 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 6 3 8 23 29 23 29 3 8 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518446972 5 28805139 CATGGACACAGGGAGGGGAACCACACACACAGGGGCCTGTCAGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGGTTAATGGGTGCAGCAAACCACCATGGCACGTGTATACCTATGTAACAAACCTGCACATTCTGCACATGTACCTCAGAACTTAAAGTATAATCATAATTAAAAAAAGATAAGATGTCTTTAAAGAAAAATATGATGGTACTTTATTATTACATTGAACTTGA C 262 PASS - - - - - Del - D 28805139 28805403 261 32 539.16 - - 1 1 1 - - ./. 0 0 0 0 6 4 6 4 0 0 ./. 7 3 0 0 17 10 24 13 7 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518447756 5 30951297 GT G 259 PASS - - - - - Del - D 30951297 30951304 1 20 377.653 - - 6 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 3 8 6 27 30 27 30 8 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518454349 5 56160715 GAGGAGACAGCCCAGACAAT G 435 PASS MAP3K1 CCDS43318.1 r.990_1008del19 c.990_1008del19 p.G331fs*25 Del frameshift D 56160715 56160736 19 70 808.741 - - 1 1 1 MAP3K1|CCDS43318.1|r.990_1008del19|c.990_1008del19|p.G331fs*25|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 MAP3K1|CCDS43318.1|r.990_1008del19|c.990_1008del19|p.G331fs*25|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 7 9 7 0 0 ./. 9 6 9 5 19 14 19 15 9 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518454351 5 56168749 CAA C 360 PASS MAP3K1 CCDS43318.1 r.1604_1605delAA c.1604_1605delAA p.Q535fs*5 Del frameshift D 56168749 56168752 2 12 324.219 - - 2 1 1 MAP3K1|CCDS43318.1|r.1604_1605delAA|c.1604_1605delAA|p.Q535fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 MAP3K1|CCDS43318.1|r.1604_1605delAA|c.1604_1605delAA|p.Q535fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 1 6 1 20 16 20 16 6 1 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518463414 5 88097647 CT C 629 PASS MEF2C CCDS47244.1 r.? - - Del intronic D 88097647 88097649 1 42 594.401 - - 1 1 1 MEF2C|CCDS47244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MEF2C|CCDS47244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 6 5 11 21 31 21 31 5 11 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518464180 5 91747163 T TGA 300 PASS - - - - - Ins - I 91747163 91747182 2 10 260.549 - - 9 1 - - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 1 1 0 32 28 32 28 5 1 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518470409 5 115178083 TC T 420 PASS ATG12 CCDS4122.1 r.? - - Del upstream D 115178083 115178087 1 18 374.643 - - 3 1 1 ATG12|CCDS4122.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 AP3S1|CCDS4123.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 2 6 4 27 16 27 16 6 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518470859 5 116528066 ATCTGTGTACATAATTC A 261 PASS - - - - - Del - D 116528066 116528103 16 30 486.328 - - 2 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 4 5 4 19 14 19 14 5 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518476169 5 136231599 G GA 660 PASS - - - - - Ins - I 136231599 136231601 1 42 587.778 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 5 8 7 21 28 21 28 8 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518492407 6 10132420 T TA 540 PASS OFCC1 ENST00000481704 r.? - - Ins intronic I 10132420 10132430 1 28 481.055 - - 9 1 1 OFCC1|ENST00000481704|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OFCC1|ENST00000481704|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 6 4 7 17 23 17 23 4 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518494432 6 16593106 T TG 300 PASS ATXN1 CCDS34342.1 r.? - - Ins intronic I 16593106 16593113 1 6 264.242 - - 6 1 1 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 5 0 6 0 13 5 13 5 6 0 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518497410 6 25330112 GT G 360 PASS LRRC16A ENST00000329474 r.? - - Del intronic D 25330112 25330115 1 15 324.316 - - 2 1 1 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 15 2 15 0 0 ./. 4 2 5 2 21 20 21 20 5 2 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518511189 6 68835297 CT C 420 PASS - - - - - Del - D 68835297 68835299 1 14 378.368 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 1 6 3 26 19 26 19 6 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518513810 6 78199399 C CA 256 PASS - - - - - Ins - I 78199399 78199406 1 30 476.238 - - 6 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 5 6 7 20 22 21 23 6 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518516397 6 89026067 C CT 300 PASS - - - - - Ins - I 89026067 89026077 1 10 248.589 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 1 4 1 23 27 23 27 4 1 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518518263 6 96170584 GT G 360 PASS - - - - - Del - D 96170584 96170592 1 16 324.316 - - 7 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 3 6 5 24 24 24 24 6 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518529905 6 140157478 C CTA 300 PASS - - - - - Ins - I 140157478 140157484 2 12 264.242 - - 2 1 - - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 3 0 1 23 24 23 24 2 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518542949 7 12767798 TTGGAGCCC T 406 PASS - - - - - Del - D 12767798 12767809 8 55 755.411 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 10 4 11 6 37 22 37 22 11 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518543398 7 14188419 C CT 420 PASS DGKB CCDS47547.1 r.2938_2939insa c.? p.? Ins 3'UTR variant I 14188419 14188425 1 20 374.093 - - 5 1 1 DGKB|CCDS47547.1|r.2938_2939insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 DGKB|CCDS47547.1|r.2938_2939insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 3 9 5 22 21 22 21 9 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518544847 7 18949529 G GT 300 PASS HDAC9 CCDS47554.1 r.? - - Ins intronic I 18949529 18949538 1 10 266.607 - - 8 1 1 HDAC9|CCDS47554.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HDAC9|CCDS47554.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 4 1 4 1 42 22 42 22 4 1 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518545237 7 20498602 CACAA C 538 PASS - - - - - Del - D 20498602 20498612 4 20 538.031 - - 2 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 1 9 2 10 18 31 18 31 2 10 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518553338 7 47104619 GTC G 269 PASS - - - - - Del - D 47104619 47104638 2 10 269.618 - - 9 1 - - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 4 2 3 16 20 16 20 2 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518561711 7 71735077 C CGT 360 PASS CALN1 CCDS47603.1 r.? - - Ins intronic I 71735077 71735094 2 16 317.039 - - 8 1 - CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 3 3 9 11 28 28 28 28 9 11 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518567808 7 92430714 GCT G 300 PASS CDK6 CCDS5628.1 r.? - - Del intronic D 92430714 92430731 2 10 263.597 - - 8 1 1 CDK6|CCDS5628.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDK6|CCDS5628.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 1 4 1 18 22 18 22 4 1 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518575955 7 121526430 T TA 540 PASS PTPRZ1 CCDS34740.1 r.? - - Ins intronic I 121526430 121526432 1 18 479.773 - - 1 1 1 PTPRZ1|CCDS34740.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRZ1|CCDS34740.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 8 1 9 23 27 24 27 1 9 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518576777 7 124390345 CT C 540 PASS GPR37 CCDS5792.1 r.? - - Del intronic D 124390345 124390349 1 28 486.395 - - 3 1 1 GPR37|CCDS5792.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR37|CCDS5792.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 3 7 5 28 25 28 25 7 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518577124 7 125532837 C CT 269 PASS - - - - - Ins - I 125532837 125532846 1 12 267.209 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 2 3 3 24 30 25 30 3 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518598447 8 37907946 AG A 1466 PASS EIF4EBP1 CCDS6100.1 r.? - - Del intronic D 37907946 37907948 1 152 1347.31 - - 1 1 1 EIF4EBP1|CCDS6100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF4EBP1|CCDS6100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 3 12 3 0 0 ./. 18 7 22 11 43 21 43 21 22 11 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518601223 8 47664581 G GT 314 PASS - - - - - Ins - I 47664581 47664591 1 16 316.708 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 3 3 4 53 54 53 54 4 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518603375 8 53937063 GCA G 300 PASS - - - - - Del - D 53937063 53937078 2 10 269.944 - - 7 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 1 7 1 55 46 55 46 7 1 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518605900 8 61119838 AT A 2429 PASS CA8 CCDS6174.1 r.? - - Del intronic D 61119838 61119843 1 462 2212.34 - - 4 1 1 CA8|CCDS6174.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 CA8|CCDS6174.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 21 20 28 27 41 53 41 53 28 27 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518607509 8 66026710 AC A 420 PASS - - - - - Del - D 66026710 66026712 1 14 377.32 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 6 2 9 46 55 46 55 2 9 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518609206 8 70419963 C CA 300 PASS SULF1 CCDS6204.1 r.? - - Ins intronic I 70419963 70419972 1 6 265.128 - - 8 1 1 SULF1|CCDS6204.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SULF1|CCDS6204.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 0 5 2 7 42 51 42 51 2 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518616381 8 89482596 A AT 420 PASS - - - - - Ins - I 89482596 89482604 1 20 373.707 - - 7 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 3 9 6 56 42 56 42 9 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518616974 8 91137052 T TC 300 PASS - - - - - Ins - I 91137052 91137053 1 10 266.332 - - 0 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 1 4 2 42 46 43 46 4 2 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518617981 8 94156298 C CA 1589 PASS - - - - - Ins - I 94156298 94156308 1 180 1414.95 - - 9 1 1 - - ./. 0 0 0 0 10 11 11 11 0 0 ./. 8 19 13 26 46 52 46 53 13 26 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518621219 8 101852341 GTA G 300 PASS - - - - - Del - D 101852341 101852359 2 12 269.944 - - 8 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 2 3 2 28 56 28 56 3 2 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518622710 8 105458960 TA T 300 PASS DPYS CCDS6302.1 r.? - - Del intronic D 105458960 105458970 1 12 268.74 - - 9 1 1 DPYS|CCDS6302.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPYS|CCDS6302.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 3 3 4 37 56 37 56 3 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518623146 8 106587906 G GA 840 PASS ZFPM2 CCDS47908.1 r.? - - Ins intronic I 106587906 106587915 1 60 746.813 - - 8 1 1 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 9 5 12 8 61 57 62 57 12 8 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518623964 8 108809385 GGA G 360 PASS - - - - - Del - D 108809385 108809404 2 15 323.933 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 2 4 2 49 41 49 41 4 2 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518626302 8 115161894 G GA 480 PASS - - - - - Ins - I 115161894 115161901 1 24 425.89 - - 6 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 5 5 6 45 60 47 61 5 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518626786 8 116632454 AAAAC A 300 PASS TRPS1 CCDS6318.2 r.? - - Del intronic D 116632454 116632465 4 12 269.342 - - 2 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 4 52 62 52 62 2 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518626790 8 116646096 TG T 1440 PASS TRPS1 CCDS6318.2 r.? - - Del intronic D 116646096 116646099 1 153 1289.11 - - 2 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 8 16 11 18 45 52 45 52 11 18 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518628189 8 120271262 GGA G 300 PASS - - - - - Del - D 120271262 120271279 2 12 268.74 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 2 3 2 36 52 36 52 3 2 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518628864 8 122123629 T TA 360 PASS - - - - - Ins - I 122123629 122123639 1 15 320.321 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 2 4 3 57 51 57 51 4 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518633112 8 132582630 A AT 360 PASS - - - - - Ins - I 132582630 132582640 1 12 318.514 - - 9 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 5 1 5 1 50 55 50 55 5 1 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518636010 8 140992150 ACCCTCTAAATGCGGTGT A 551 PASS TRAPPC9 CCDS34946.1 r.? - - Del intronic D 140992150 140992172 17 80 1021.57 - - 1 1 1 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 15 4 13 28 47 28 49 4 15 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518654369 9 76495128 AT A 720 PASS - - - - - Del - D 76495128 76495132 1 49 650.647 - - 3 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 6 10 7 29 20 29 20 10 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518655594 9 80328514 AAC A 300 PASS GNAQ CCDS6658.1 r.? - - Del downstream D 80328514 80328533 2 12 271.103 - - 9 1 - GNAQ|CCDS6658.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 GNAQ|CCDS6658.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 2 3 15 37 15 37 2 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518657056 9 85934337 ATTAT A 540 PASS FRMD3 CCDS43840.1 r.? - - Del intronic D 85934337 85934357 4 28 486.781 - - 4 1 1 FRMD3|CCDS43840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD3|CCDS43840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 6 6 11 28 24 28 24 6 11 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518659374 9 94574845 A AC 269 PASS ROR2 CCDS6691.1 r.? - - Ins intronic I 94574845 94574854 1 12 247.623 - - 8 1 1 ROR2|CCDS6691.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROR2|CCDS6691.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 3 4 3 10 12 10 12 4 3 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518666533 9 120262555 AATAATC A 261 PASS - - - - - Del - D 120262555 120262563 6 30 487.986 - - 1 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 4 5 4 5 28 20 28 20 4 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518668632 9 128545123 G GT 720 PASS PBX3 CCDS6865.1 r.? - - Ins intronic I 128545123 128545133 1 40 628.371 - - 9 1 1 PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 9 3 12 6 33 25 33 25 12 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518673852 X 8567893 AAAAC A 360 PASS KAL1 CCDS14130.1 r.? - - Del intronic D 8567893 8567917 4 12 324.748 - - 5 1 - KAL1|CCDS14130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KAL1|CCDS14130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 1 6 1 28 19 28 19 6 1 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518675953 X 17752059 G GA 300 PASS NHS CCDS14181.1 r.6706_6707insa c.? p.? Ins 3'UTR variant I 17752059 17752069 1 10 266.309 - - 9 1 1 NHS|CCDS14181.1|r.6706_6707insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 NHS|CCDS14181.1|r.6706_6707insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 16 6 16 6 0 0 ./. 4 1 4 2 33 28 33 28 4 2 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518677778 X 26703020 G GAGAT 598 PASS - - - - - Ins - I 26703020 26703022 4 42 568.781 - - 0 1 - - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 6 5 7 5 25 22 25 22 7 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518680325 X 39823834 T TG 420 PASS - - - - - Ins - I 39823834 39823835 1 14 375.361 - - 0 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 1 6 3 6 22 23 22 23 3 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518682991 X 51876757 GAGAC G 538 PASS - - - - - Del - D 51876757 51876767 4 36 536.832 - - 2 1 1 - - ./. 0 0 0 0 3 9 3 9 0 0 ./. 5 5 6 6 16 24 16 24 6 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518687506 X 78801287 G GT 1020 PASS - - - - - Ins - I 78801287 78801295 1 90 910.989 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 9 8 13 8 35 19 35 19 13 8 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518689888 X 88736334 G GA 383 PASS - - - - - Ins - I 88736334 88736339 1 20 375.361 - - 4 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 4 7 9 21 28 21 28 7 9 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518691379 X 94810924 A AT 360 PASS - - - - - Ins - I 94810924 94810934 1 15 321.136 - - 9 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 4 2 5 27 22 28 22 2 5 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518693120 X 102103641 T TTC 540 PASS - - - - - Ins - I 102103641 102103643 2 30 476.587 - - 0 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 4 7 6 24 20 25 21 7 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518693855 X 105894451 T TA 840 PASS CXorf57 CCDS14519.1 r.? - - Ins intronic I 105894451 105894460 1 63 748.916 - - 8 1 1 CXorf57|CCDS14519.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CXorf57|CCDS14519.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 14 14 0 0 ./. 6 8 6 12 17 31 17 31 6 12 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518697963 X 124532405 CGAA C 418 PASS - - - - - Del - D 124532405 124532417 3 21 433.801 - - 3 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 6 4 7 14 24 14 24 4 7 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518699608 X 132006074 A AG 480 PASS HS6ST2 CCDS48169.1 r.? - - Ins intronic I 132006074 132006080 1 24 428.382 - - 5 1 1 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 10 0 0 ./. 5 3 9 6 25 17 25 17 9 6 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518699790 X 133011765 T TA 360 PASS GPC3 CCDS14638.1 r.? - - Ins intronic I 133011765 133011773 1 16 321.738 - - 7 1 1 GPC3|CCDS14638.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPC3|CCDS14638.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 20 11 20 0 0 ./. 3 3 4 4 27 26 27 26 4 4 1 1 1 1 1 1 1 1 2288390 PD17976a PD17976b 2518702324 X 143948441 AT A 437 PASS - - - - - Del - D 143948441 143948449 1 30 488.026 - - 7 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 4 5 4 32 24 32 24 5 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707746169 1 2560975 C CAGGGGAG 377 PASS MMEL1 CCDS30569.1 r.? - - Ins intronic I 2560975 2560995 7 54 639.13 - - 2 1 1 MMEL1|CCDS30569.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MMEL1|CCDS30569.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 8 5 10 15 23 15 23 5 10 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707749344 1 14482131 TTTC T 300 PASS C1orf196 ENST00000412667 r.? - - Del intronic D 14482131 14482158 3 6 269.207 - - 8 1 - C1orf196|ENST00000412667|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf196|ENST00000412667|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 0 5 1 5 32 25 32 25 1 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707763509 1 69229024 C CA 517 PASS - - - - - Ins - I 69229024 69229030 1 24 479.154 - - 5 1 1 - - ./. 0 0 0 0 11 18 11 19 0 0 ./. 7 2 7 5 24 31 24 32 7 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707765290 1 76568792 T TG 300 PASS ST6GALNAC3 CCDS672.1 r.? - - Ins intronic I 76568792 76568793 1 10 263.187 - - 0 1 1 ST6GALNAC3|CCDS672.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ST6GALNAC3|CCDS672.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 4 6 4 32 21 33 21 6 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707788192 1 173409587 G GA 300 PASS AL022310.2 ENST00000421168 r.? - - Ins intronic I 173409587 173409597 1 12 259.574 - - 9 1 1 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 9 17 10 0 0 ./. 3 2 3 2 46 29 46 29 3 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707801080 1 214829821 G GT 360 PASS CENPF CCDS31023.1 r.? - - Ins intronic I 214829821 214829829 1 15 318.232 - - 7 1 1 CENPF|CCDS31023.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CENPF|CCDS31023.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 18 15 19 0 0 ./. 2 4 3 5 34 32 35 33 3 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707801625 1 216700740 AC A 840 PASS ESRRG CCDS1517.1 r.? - - Del intronic D 216700740 216700743 1 55 753.78 - - 2 1 1 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 10 4 13 6 46 37 46 37 13 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707808396 1 238049360 AG A 720 PASS ZP4 CCDS1615.1 r.? - - Del intronic D 238049360 238049363 1 48 646.097 - - 2 1 1 ZP4|CCDS1615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZP4|CCDS1615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 7 5 8 7 28 33 28 33 8 7 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707818167 10 16602296 CT C 420 PASS - - - - - Del - D 16602296 16602302 1 20 378.337 - - 5 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 3 6 3 22 23 22 23 6 3 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707825627 10 42534638 GT G 284 PASS - - - - - Del - D 42534638 42534643 1 12 594.53 - - 4 1 1 - - ./. 0 0 0 0 76 1 76 1 0 0 ./. 11 0 13 0 301 4 301 4 13 0 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707836785 10 82829581 T TGA 300 PASS - - - - - Ins - I 82829581 82829588 2 12 263.016 - - 3 1 1 - - ./. 0 0 0 0 8 16 8 18 0 0 ./. 2 3 6 6 20 23 21 23 6 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707837382 10 85518919 A AT 420 PASS - - - - - Ins - I 85518919 85518928 1 18 371.112 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 5 6 7 16 32 16 32 6 7 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707843122 10 107484291 C CA 360 PASS - - - - - Ins - I 107484291 107484300 1 15 320.677 - - 8 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 2 5 3 26 27 26 27 5 3 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707846496 10 120455832 T TA 300 PASS C10orf46 CCDS41570.1 r.? - - Ins intronic I 120455832 120455842 1 12 267.23 - - 9 1 1 C10orf46|CCDS41570.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C10orf46|CCDS41570.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 3 2 23 28 23 28 3 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707849688 10 130807987 GA G 300 PASS - - - - - Del - D 130807987 130807996 1 10 269.037 - - 8 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 1 5 5 13 27 13 27 5 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707853218 11 7581258 TC T 660 PASS PPFIBP2 CCDS31419.1 r.? - - Del intronic D 7581258 7581264 1 36 595.719 - - 5 1 1 PPFIBP2|CCDS31419.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPFIBP2|CCDS31419.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 8 3 12 8 30 18 30 18 12 8 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707863133 11 40655057 G GC 540 PASS - - - - - Ins - I 40655057 40655064 1 30 478.376 - - 6 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 5 5 6 18 29 18 29 5 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707863335 11 41357792 C CT 300 PASS - - - - - Ins - I 41357792 41357802 1 12 267.771 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 2 5 6 26 26 26 26 5 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707865712 11 49083432 A AT 300 PASS TRIM64C ENST00000340070 r.? - - Ins upstream I 49083432 49083433 1 6 265.965 - - 0 1 1 TRIM64C|ENST00000340070|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TRIM64C|ENST00000340070|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 9 13 9 13 0 0 ./. 0 5 2 7 21 26 21 26 2 7 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707900792 12 48265144 TTC T 360 PASS VDR CCDS8757.1 r.? - - Del intronic D 48265144 48265162 2 15 324.851 - - 8 1 - VDR|CCDS8757.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VDR|CCDS8757.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 4 2 3 2 14 27 14 27 4 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707910984 12 85940615 AAC A 300 PASS - - - - - Del - D 85940615 85940634 2 12 270.709 - - 9 1 - - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 3 2 33 25 33 25 3 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707912788 12 93016076 GGTGA G 478 PASS - - - - - Del - D 93016076 93016083 4 24 487.277 - - 1 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 2 7 3 10 19 30 19 30 3 10 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707935376 13 58443462 G GA 420 PASS - - - - - Ins - I 58443462 58443469 1 20 376 - - 6 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 3 4 6 9 28 32 28 32 6 9 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707937557 13 65567886 TTG T 300 PASS - - - - - Del - D 65567886 65567904 2 12 271.581 - - 8 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 2 3 21 19 21 19 2 3 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707954522 14 31595825 CA C 300 PASS HECTD1 CCDS41939.1 r.? - - Del intronic D 31595825 31595835 1 10 268.577 - - 9 1 1 HECTD1|CCDS41939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HECTD1|CCDS41939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 26 7 26 0 0 ./. 1 4 2 4 23 40 23 40 2 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707959495 14 48313760 G GC 300 PASS - - - - - Ins - I 48313760 48313764 1 12 268.577 - - 3 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 3 2 5 2 27 21 27 21 5 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707968655 14 80799133 AAG A 300 PASS AC010849.1 ENST00000504475 r.? - - Del intronic D 80799133 80799152 2 12 270.986 - - 9 1 1 AC010849.1|ENST00000504475|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC010849.1|ENST00000504475|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 2 0 1 32 19 32 19 3 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707968909 14 81557091 TCA T 300 PASS TSHR CCDS9872.1 r.? - - Del intronic D 81557091 81557109 2 12 269.18 - - 8 1 1 TSHR|CCDS9872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSHR|CCDS9872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 5 2 27 16 27 16 5 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707970316 14 86697760 CT C 480 PASS - - - - - Del - D 86697760 86697762 1 25 434.54 - - 1 1 1 - - ./. 0 0 0 0 21 14 21 14 0 0 ./. 4 4 6 4 26 23 26 23 6 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2707986293 15 54277159 C CT 480 PASS - - - - - Ins - I 54277159 54277169 1 24 428.778 - - 9 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 5 4 6 23 37 23 38 4 7 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708001712 16 7356875 AG A 540 PASS - - - - - Del - D 7356875 7356877 1 28 489.16 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 3 8 5 33 19 33 19 8 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708006014 16 22640718 G GT 300 PASS ENSG00000224154 ENST00000430965 r.? - - Ins intronic I 22640718 22640728 1 12 267.541 - - 9 1 1 ENSG00000224154|ENST00000430965|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000224154|ENST00000430965|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 11 27 12 0 0 ./. 3 2 3 4 59 54 60 54 3 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708009726 16 33534938 CTCA CCG 254 PASS - - - - - Complex - DI 33534939 33534941 3 21 0 - - 0 1 1 - - ./. 0 0 0 0 34 30 34 30 0 0 ./. 6 2 0 0 64 65 64 65 6 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708024159 17 7128427 CCA C 389 PASS ACADVL CCDS11090.1 r.2131_2132delCA c.? p.? Del 3'UTR variant D 7128427 7128430 2 18 379.081 - - 1 1 1 ACADVL|CCDS11090.1|r.2131_2132delCA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ACADVL|CCDS11090.1|r.2131_2132delCA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 5 11 5 0 0 ./. 2 5 4 5 15 12 15 12 4 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708036780 17 50927613 A AC 329 PASS - - - - - Ins - I 50927613 50927620 1 12 322.346 - - 6 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 1 5 3 5 27 30 27 30 3 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708042334 17 70057480 A AT 420 PASS - - - - - Ins - I 70057480 70057489 1 20 376.071 - - 8 1 1 - - ./. 0 0 0 0 21 6 22 6 0 0 ./. 3 4 3 5 36 16 36 16 3 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708055647 18 37127361 CTTT C 567 PASS AC105201.1 ENST00000510201 r.? - - Del intronic D 37127361 37127365 3 42 597.788 - - 3 1 1 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 6 5 7 8 30 23 30 23 7 8 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708056757 18 41432469 CGT C 300 PASS - - - - - Del - D 41432469 41432486 2 12 271.722 - - 8 1 - - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 2 4 25 33 25 33 2 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708072795 19 18720399 T TA 300 PASS CRLF1 CCDS32962.1 r.? - - Ins upstream I 18720399 18720400 1 10 266.102 - - 0 1 1 CRLF1|CCDS32962.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CRLF1|CCDS32962.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 1 4 2 16 12 16 12 4 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708074209 19 22569059 C CT 365 PASS ZNF98 CCDS46031.1 r.? - - Ins downstream I 22569059 22569066 1 24 429.375 - - 6 1 1 ZNF98|CCDS46031.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ZNF98|CCDS46031.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 3 5 4 22 29 22 29 5 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708096950 2 42918507 TAC T 300 PASS MTA3 CCDS46267.1 r.? - - Del intronic D 42918507 42918525 2 10 269.418 - - 8 1 1 MTA3|CCDS46267.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTA3|CCDS46267.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 4 1 4 3 29 15 29 15 4 3 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708102208 2 63411047 GTC G 360 PASS C2orf86 CCDS42688.1 r.? - - Del intronic D 63411047 63411051 2 16 322.7 - - 1 1 1 C2orf86|CCDS42688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C2orf86|CCDS42688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 11 22 11 0 0 ./. 3 3 4 4 23 23 23 23 4 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708106508 2 80272738 CATCATAAATTCTTGAG C 261 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 80272738 80272755 16 28 483.147 - - 1 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 6 3 5 3 22 21 23 21 6 3 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708110933 2 99204195 CA C 300 PASS INPP4A CCDS46369.1 r.3452delA c.? p.? Del 3'UTR variant D 99204195 99204197 1 12 267.612 - - 1 1 1 INPP4A|CCDS46369.1|r.3452delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 INPP4A|CCDS46369.1|r.3452delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 2 10 5 28 22 28 22 10 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708113393 2 109248020 TC T 300 PASS LIMS1 CCDS2078.1 r.? - - Del intronic D 109248020 109248022 1 6 259.183 - - 1 1 1 LIMS1|CCDS2078.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LIMS1|CCDS2078.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 0 6 0 25 24 25 24 6 0 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708121841 2 139386817 G GA 540 PASS - - - - - Ins - I 139386817 139386824 1 30 479.534 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 4 7 5 27 29 27 29 7 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708124772 2 149904078 AGT A 300 PASS LYPD6B CCDS46423.1 r.? - - Del intronic D 149904078 149904097 2 10 269.418 - - 9 1 - LYPD6B|CCDS46423.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LYPD6B|CCDS46423.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 1 5 1 33 17 33 17 5 1 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708126119 2 154561170 A AT 720 PASS - - - - - Ins - I 154561170 154561176 1 40 639.379 - - 5 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 3 9 7 10 26 28 26 28 7 10 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708131998 2 175050748 GAGACA G 300 PASS OLA1 CCDS2255.1 r.? - - Del intronic D 175050748 175050759 5 10 269.418 - - 2 1 1 OLA1|CCDS2255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OLA1|CCDS2255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 12 21 12 0 0 ./. 4 1 7 1 29 16 29 16 7 1 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708137466 2 195620683 A AT 840 PASS - - - - - Ins - I 195620683 195620692 1 63 745.942 - - 8 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 6 8 10 10 44 33 45 33 10 10 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708142828 2 215355439 AC A 569 PASS VWC2L CCDS46509.1 r.? - - Del intronic D 215355439 215355441 1 32 534.622 - - 1 1 1 VWC2L|CCDS46509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VWC2L|CCDS46509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 7 3 11 5 28 19 28 19 11 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708162700 20 45197802 G GT 480 PASS SLC13A3 CCDS42886.1 r.? - - Ins intronic I 45197802 45197812 1 24 428.639 - - 9 1 1 SLC13A3|CCDS42886.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC13A3|CCDS42886.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 5 4 5 20 27 20 27 4 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708165306 20 53948098 GA G 720 PASS - - - - - Del - D 53948098 53948107 1 49 651.387 - - 8 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 6 6 8 6 34 33 34 33 8 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708195536 3 9695485 T TG 300 PASS MTMR14 CCDS43043.1 r.? - - Ins intronic I 9695485 9695490 1 10 257.247 - - 4 1 1 MTMR14|CCDS43043.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTMR14|CCDS43043.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 1 4 2 21 21 22 22 4 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708198071 3 19849631 T TA 540 PASS - - - - - Ins - I 19849631 19849640 1 30 480.384 - - 8 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 5 4 6 5 32 19 32 21 6 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708201984 3 33655529 G GA 480 PASS CLASP2 ENST00000307312 r.? - - Ins intronic I 33655529 33655537 1 21 427.008 - - 7 1 1 CLASP2|ENST00000307312|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLASP2|ENST00000307312|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 6 2 8 4 27 26 27 26 8 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708206531 3 52936766 T TG 389 PASS SFMBT1 CCDS2867.1 r.? - - Ins downstream I 52936766 52936772 1 20 368.815 - - 5 1 1 SFMBT1|CCDS2867.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SFMBT1|CCDS2867.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 3 10 5 26 28 27 28 10 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708209403 3 63552984 G GA 300 PASS SYNPR CCDS46859.1 r.? - - Ins intronic I 63552984 63552992 1 10 264.472 - - 7 1 1 SYNPR|CCDS46859.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SYNPR|CCDS46859.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 1 4 5 5 18 27 18 27 5 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708229795 3 139004413 TG T 300 PASS MRPS22 CCDS3107.1 r.? - - Del intronic D 139004413 139004415 1 12 269.89 - - 1 1 1 MRPS22|CCDS3107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MRPS22|CCDS3107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 4 4 25 18 25 18 4 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708237806 3 167691943 C CT 540 PASS - - - - - Ins - I 167691943 167691952 1 30 479.782 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 4 5 6 23 22 23 22 5 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708256755 4 37584635 C CT 509 PASS C4orf19 CCDS3442.1 r.? - - Ins upstream I 37584635 37584637 1 30 480.027 - - 1 1 1 C4orf19|CCDS3442.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 C4orf19|CCDS3442.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 17 0 0 ./. 4 5 8 6 25 29 27 29 8 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708258213 4 41901829 ATG A 360 PASS - - - - - Del - D 41901829 41901847 2 12 321.222 - - 8 1 - - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 1 5 1 25 15 25 15 5 1 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708258521 4 42890443 TTC T 300 PASS GRXCR1 CCDS43225.1 r.? - - Del upstream D 42890443 42890461 2 12 267.886 - - 8 1 - GRXCR1|CCDS43225.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 GRXCR1|CCDS43225.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 17 8 17 0 0 ./. 2 3 4 3 33 25 33 25 4 3 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708263000 4 59608836 CA C 569 PASS - - - - - Del - D 59608836 59608838 1 32 538.18 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 7 3 10 3 23 15 23 15 10 3 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708265493 4 67177571 ATGTT A 360 PASS - - - - - Del - D 67177571 67177578 4 15 323.631 - - 1 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 4 2 5 3 22 27 22 27 5 3 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708277706 4 112743140 T TA 480 PASS - - - - - Ins - I 112743140 112743147 1 21 425.487 - - 6 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 2 6 4 10 29 35 29 36 4 10 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708284397 4 136202792 G GA 300 PASS - - - - - Ins - I 136202792 136202802 1 10 266.682 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 1 4 3 6 16 32 16 33 3 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708289917 4 156918681 A AT 540 PASS - - - - - Ins - I 156918681 156918689 1 30 480.027 - - 7 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 4 5 5 27 27 27 27 5 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708291175 4 160891845 GGT G 300 PASS - - - - - Del - D 160891845 160891865 2 10 267.886 - - 9 1 - - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 1 4 1 34 23 34 23 4 1 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708296738 4 178559032 CT C 480 PASS - - - - - Del - D 178559032 178559034 1 25 431.507 - - 1 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 4 6 8 15 27 15 27 6 8 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708297534 4 180771918 A AT 420 PASS - - - - - Ins - I 180771918 180771925 1 14 373.355 - - 6 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 6 1 7 1 26 5 27 5 7 1 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708303564 5 4047124 T TA 360 PASS - - - - - Ins - I 4047124 4047134 1 12 318.808 - - 9 1 1 - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 1 5 2 7 21 33 21 33 2 7 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708306231 5 13307563 CTG C 540 PASS - - - - - Del - D 13307563 13307569 2 28 486.34 - - 2 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 6 3 9 4 26 29 26 29 9 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708320028 5 64607932 G GATA 745 PASS ADAMTS6 CCDS3983.2 r.? - - Ins intronic I 64607932 64607937 3 72 783.474 - - 1 1 1 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 8 7 10 9 37 26 37 26 10 9 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708335544 5 124050963 C CA 629 PASS ZNF608 CCDS34219.1 r.? - - Ins intronic I 124050963 124050973 1 42 581.17 - - 9 1 1 ZNF608|CCDS34219.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF608|CCDS34219.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 6 5 8 5 25 27 25 27 8 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708352003 6 5608671 AAGTTTCCAAGTTCATTCTTACT A 261 PASS FARS2 CCDS4494.1 r.? - - Del intronic D 5608671 5608695 22 30 486.239 - - 1 1 1 FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 4 4 2 20 20 21 21 5 4 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708363760 6 41526598 TAA T 720 PASS FOXP4 CCDS34447.1 r.? - - Del intronic D 41526598 41526601 2 45 648.318 - - 2 1 1 FOXP4|CCDS34447.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FOXP4|CCDS34447.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 8 4 9 22 30 22 30 4 9 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708371780 6 69605672 G GT 300 PASS BAI3 CCDS4968.1 r.? - - Ins intronic I 69605672 69605682 1 12 266.52 - - 9 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 15 22 15 0 0 ./. 3 2 4 3 30 28 32 28 4 3 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708376713 6 87792781 TC T 540 PASS CGA CCDS5007.1 r.? - - Del downstream D 87792781 87792785 1 30 483.228 - - 3 1 1 CGA|CCDS5007.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CGA|CCDS5007.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 22 7 22 0 0 ./. 5 4 8 6 24 30 24 30 8 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708386974 6 125463161 C CT 540 PASS - - - - - Ins - I 125463161 125463171 1 30 480.82 - - 9 1 1 - - ./. 0 0 0 0 14 9 15 9 0 0 ./. 5 4 6 7 25 18 25 18 6 7 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708390131 6 138723044 G GA 360 PASS HEBP2 CCDS5191.1 r.? - - Ins upstream I 138723044 138723054 1 16 320.547 - - 9 1 1 HEBP2|CCDS5191.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 HEBP2|CCDS5191.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 3 6 3 26 21 26 21 6 3 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708421600 7 76552532 CA C 564 PASS - - - - - Del - D 76552532 76552537 1 77 865.219 - - 4 1 1 - - ./. 0 0 0 0 25 15 25 15 0 0 ./. 10 6 11 7 35 37 35 37 11 7 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708427495 7 99031746 TA T 480 PASS PTCD1 CCDS34691.1 r.? - - Del intronic D 99031746 99031748 1 24 426.589 - - 1 1 1 PTCD1|CCDS34691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTCD1|CCDS34691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 3 5 7 5 24 17 24 17 7 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708428938 7 104761791 C CA 300 PASS SRPK2 CCDS5735.1 r.? - - Ins intronic I 104761791 104761799 1 12 265.565 - - 7 1 1 SRPK2|CCDS5735.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SRPK2|CCDS5735.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 10 19 10 0 0 ./. 3 2 6 2 19 15 19 15 6 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708474458 8 120875461 C CT 360 PASS AP005717.2 ENST00000500705 r.? - - Ins downstream I 120875461 120875470 1 15 321.167 - - 8 1 1 AP005717.2|ENST00000500705|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 AP005717.2|ENST00000500705|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 4 4 6 14 25 14 26 4 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708477716 8 133470232 A AC 420 PASS KCNQ3 CCDS34943.1 r.? - - Ins intronic I 133470232 133470235 1 18 372.889 - - 2 1 1 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 5 3 5 22 19 22 19 3 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708478220 8 135490793 CGAT C 509 PASS ZFAT CCDS47924.1 r.3836_3838delAUC c.3661_3663delATC p.I1221delI Del inframe D 135490793 135490799 3 30 475.128 - - 1 1 1 ZFAT|CCDS47924.1|r.3836_3838delAUC|c.3661_3663delATC|p.I1221delI|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ZFAT|CCDS47924.1|r.3836_3838delAUC|c.3661_3663delATC|p.I1221delI|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 5 6 9 18 28 18 28 6 9 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708482477 9 5627206 TC T 598 PASS KIAA1432 CCDS47949.1 r.? - - Del upstream D 5627206 5627208 1 42 593.098 - - 1 1 1 KIAA1432|CCDS47949.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KIAA1432|CCDS47949.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 17 16 17 0 0 ./. 5 6 8 7 23 20 23 20 8 7 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708495699 9 71882012 A AC 329 PASS - - - - - Ins - I 71882012 71882013 1 12 314.313 - - 0 1 - - - ./. 0 0 0 0 3 10 3 10 0 0 ./. 1 5 1 5 4 16 4 16 1 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708498812 9 83041730 A AT 300 PASS - - - - - Ins - I 83041730 83041739 1 10 267.948 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 16 0 0 ./. 1 4 2 5 25 23 26 23 2 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708501489 9 93174640 TA T 295 PASS - - - - - Del - D 93174640 93174649 1 12 270.356 - - 8 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 3 5 3 32 23 32 23 5 3 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708521392 X 39104786 C CA 360 PASS - - - - - Ins - I 39104786 39104795 1 12 321.771 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 5 4 6 21 26 22 26 4 6 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708528475 X 82571670 G GT 300 PASS - - - - - Ins - I 82571670 82571680 1 10 265.734 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 1 4 1 4 32 27 33 29 1 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708531173 X 94445577 AG A 480 PASS - - - - - Del - D 94445577 94445584 1 21 433.845 - - 6 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 6 2 7 2 21 23 21 23 7 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708532771 X 102447986 AAT A 300 PASS ENSG00000226623 ENST00000416953 r.? - - Del intronic D 102447986 102448001 2 12 271.153 - - 7 1 1 ENSG00000226623|ENST00000416953|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000226623|ENST00000416953|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 2 3 2 28 28 28 28 3 2 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708533773 X 108874841 G GT 360 PASS - - - - - Ins - I 108874841 108874850 1 16 315.148 - - 8 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 3 3 6 5 20 21 20 23 6 5 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708534706 X 114034578 C CA 480 PASS HTR2C CCDS14564.1 r.? - - Ins intronic I 114034578 114034585 1 21 428.426 - - 6 1 1 HTR2C|CCDS14564.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HTR2C|CCDS14564.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 2 6 5 7 22 25 22 25 5 7 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708536996 X 124015269 CT C 480 PASS ODZ1 CCDS14609.1 r.? - - Del intronic D 124015269 124015279 1 16 433.845 - - 9 1 1 ODZ1|CCDS14609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ1|CCDS14609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 7 3 9 21 33 21 33 3 9 1 1 1 1 1 1 1 1 2661549 PD17982a PD17982b 2708537891 X 127410906 A AT 300 PASS - - - - - Ins - I 127410906 127410916 1 12 268.143 - - 9 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 2 3 2 5 30 36 30 36 2 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728471750 1 28116579 G GA 300 PASS STX12 CCDS310.1 r.? - - Ins intronic I 28116579 28116589 1 6 265.713 - - 9 1 1 STX12|CCDS310.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STX12|CCDS310.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 0 5 0 29 42 30 43 5 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728476106 1 42435437 CA C 360 PASS - - - - - Del - D 42435437 42435439 1 15 322.468 - - 1 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 4 2 5 2 51 30 51 30 5 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728476217 1 42787066 AT A 360 PASS FOXJ3 CCDS30689.1 r.? - - Del intronic D 42787066 42787070 1 16 322.468 - - 3 1 1 FOXJ3|CCDS30689.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FOXJ3|CCDS30689.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 3 3 4 4 38 37 38 37 4 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728477756 1 47109164 GTTAT G 538 PASS ATPAF1 CCDS541.1 r.? - - Del intronic D 47109164 47109171 4 36 537.446 - - 1 1 1 ATPAF1|CCDS541.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATPAF1|CCDS541.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 5 5 6 30 45 30 45 5 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728490801 1 89007148 AAG A 300 PASS - - - - - Del - D 89007148 89007165 2 10 266.315 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 4 2 4 27 32 27 32 2 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728507923 1 158602183 AAT A 420 PASS SPTA1 CCDS41423.1 r.? - - Del intronic D 158602183 158602188 2 20 374.406 - - 2 1 1 SPTA1|CCDS41423.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPTA1|CCDS41423.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 4 3 5 6 44 30 44 30 5 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728509471 1 163510977 TCA T 300 PASS - - - - - Del - D 163510977 163510997 2 10 268.723 - - 9 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 4 1 6 2 38 38 38 38 6 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728513427 1 176065404 C CT 300 PASS RFWD2 CCDS30944.1 r.? - - Ins intronic I 176065404 176065414 1 10 264.509 - - 9 1 1 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 15 16 0 0 ./. 1 4 1 4 46 39 48 39 1 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728513970 1 178204734 CGT C 300 PASS RASAL2 CCDS1321.1 r.? - - Del intronic D 178204734 178204753 2 6 268.723 - - 9 1 - RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 0 5 1 7 25 43 25 43 1 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728516746 1 186199410 GA G 300 PASS - - - - - Del - D 186199410 186199420 1 10 266.315 - - 9 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 1 4 1 44 39 44 39 4 1 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728518201 1 189557013 ATG A 360 PASS - - - - - Del - D 189557013 189557029 2 15 317.651 - - 7 1 - - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 2 4 2 42 25 42 25 4 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728519017 1 191684255 GTGT G 569 PASS - - - - - Del - D 191684255 191684262 3 32 537.446 - - 2 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 7 3 10 4 58 45 58 45 10 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728532556 1 230969971 GAT G 300 PASS C1orf198 CCDS1587.1 r.? - - Del downstream D 230969971 230969988 2 12 268.723 - - 8 1 1 C1orf198|CCDS1587.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C1orf198|CCDS1587.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 2 3 2 38 37 38 37 3 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728532637 1 231128629 CCATGATGTCCAGTCTAT C 493 PASS ARV1 CCDS1589.1 r.? - - Del intronic D 231128629 231128648 17 84 913.057 - - 1 1 1 ARV1|CCDS1589.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARV1|CCDS1589.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 20 5 20 0 0 ./. 11 6 11 6 39 44 40 44 12 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728534001 1 234960475 TGA T 300 PASS - - - - - Del - D 234960475 234960479 2 12 266.917 - - 1 1 - - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 2 3 29 38 29 38 2 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728534940 1 236929066 TGCCATCTG T 261 PASS ACTN2 CCDS1613.1 r.? - - Del downstream D 236929066 236929076 8 28 482.497 - - 1 1 1 ACTN2|CCDS1613.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ACTN2|CCDS1613.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 23 12 23 12 0 0 ./. 3 6 3 6 45 37 45 37 3 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728535501 1 238132757 AAGATAGTTT A 261 PASS - - - - - Del - D 238132757 238132767 9 30 483.702 - - 1 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 5 4 5 4 40 55 40 55 5 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728535914 1 239089212 AC A 269 PASS - - - - - Del - D 239089212 239089214 1 6 260.896 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 0 7 0 41 23 41 23 7 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728536023 1 239333167 TAC T 360 PASS - - - - - Del - D 239333167 239333185 2 16 322.468 - - 8 1 - - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 3 6 3 46 39 46 39 6 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728536587 1 240697512 C CA 420 PASS GREM2 CCDS31070.1 r.? - - Ins intronic I 240697512 240697520 1 14 371.998 - - 7 1 1 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 21 19 21 0 0 ./. 1 6 5 9 32 39 32 40 5 9 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728538324 1 244796930 GCA G 300 PASS C1orf101 CCDS44340.1 r.? - - Del intronic D 244796930 244796946 2 6 268.723 - - 7 1 - C1orf101|CCDS44340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf101|CCDS44340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 0 5 0 5 37 46 37 46 0 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728546575 10 16088215 CT C 540 PASS - - - - - Del - D 16088215 16088220 1 24 485.644 - - 4 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 7 5 11 43 43 43 43 5 11 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728554290 10 37680230 AAT A 360 PASS - - - - - Del - D 37680230 37680233 2 15 323.161 - - 1 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 4 3 4 28 37 28 37 3 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728555723 10 42401835 AC A 261 PASS - - - - - Del - D 42401835 42401838 1 30 483.236 - - 2 1 1 - - ./. 0 0 0 0 25 14 26 66 0 0 ./. 5 4 7 5 76 24 76 53 7 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728563558 10 66723442 TC T 300 PASS - - - - - Del - D 66723442 66723444 1 12 269.802 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 2 3 1 39 36 39 36 3 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728566154 10 74015750 T TA 300 PASS - - - - - Ins - I 74015750 74015759 1 6 260.169 - - 8 1 - - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 0 5 3 6 25 39 26 39 3 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728566901 10 76667743 TGATTG T 300 PASS MYST4 CCDS7345.1 r.? - - Del intronic D 76667743 76667752 5 12 269.802 - - 1 1 1 MYST4|CCDS7345.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYST4|CCDS7345.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 3 2 3 26 28 26 28 2 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728572302 10 95717010 CTT C 360 PASS - - - - - Del - D 95717010 95717013 2 16 319.548 - - 2 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 3 3 3 28 29 28 29 3 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728580070 10 121790158 C CA 660 PASS - - - - - Ins - I 121790158 121790162 1 36 586.942 - - 3 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 8 3 10 3 29 33 29 34 10 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728591496 11 22638122 TC T 300 PASS - - - - - Del - D 22638122 22638124 1 6 267.677 - - 1 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 0 6 0 36 32 36 32 6 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728594580 11 31180199 GAGA G 258 PASS ENSG00000226746 ENST00000399333 r.? - - Del intronic D 31180199 31180210 3 12 270.085 - - 3 1 1 ENSG00000226746|ENST00000399333|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000226746|ENST00000399333|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 3 2 3 28 30 28 30 2 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728594608 11 31312549 TACTA T 300 PASS DCDC1 CCDS7872.1 r.? - - Del intronic D 31312549 31312557 4 12 270.085 - - 1 1 1 DCDC1|CCDS7872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCDC1|CCDS7872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 2 4 32 29 32 29 2 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728597707 11 40867585 TTC T 300 PASS - - - - - Del - D 40867585 40867589 2 6 264.667 - - 1 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 5 0 7 0 53 50 53 50 7 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728598802 11 43989202 A AT 300 PASS - - - - - Ins - I 43989202 43989212 1 10 267.075 - - 9 1 1 - - ./. 0 0 0 0 15 16 16 16 0 0 ./. 4 1 4 1 28 37 28 37 4 1 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728601902 11 57288961 TA T 300 PASS - - - - - Del - D 57288961 57288963 1 12 269.483 - - 1 1 1 - - ./. 0 0 0 0 10 24 10 24 0 0 ./. 2 3 3 3 33 41 33 41 3 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728604328 11 65199241 CGTT C 300 PASS - - - - - Del - D 65199241 65199252 3 6 270.085 - - 3 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 5 0 5 1 32 33 32 33 5 1 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728605604 11 69003581 T TA 300 PASS - - - - - Ins - I 69003581 69003583 1 12 265.269 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 3 2 3 25 28 25 29 2 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728610402 11 84013975 CA C 300 PASS DLG2 CCDS41696.1 r.? - - Del intronic D 84013975 84013985 1 10 270.085 - - 9 1 1 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 4 10 4 0 0 ./. 4 1 4 1 30 19 30 19 4 1 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728612788 11 90907152 TGCTTCTGGGGAGGCCTCAAGGCACTTCTGATCATGGCAGAAAGCAAAAGGG T 348 PASS - - - - - Del - D 90907152 90907205 51 48 648.205 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 7 5 3 1 29 27 34 31 8 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728617980 11 106329403 A AG 300 PASS - - - - - Ins - I 106329403 106329404 1 10 239.982 - - 0 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 1 4 1 5 37 24 37 25 1 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728620773 11 114453258 TGCACTCCA T 290 PASS FAM55D CCDS41718.1 r.755_762delUGGAGUGC c.574_581delTGGAGTGC p.W192fs*6 Del frameshift D 114453258 114453268 8 35 529.334 - - 1 1 1 FAM55D|CCDS41718.1|r.755_762delUGGAGUGC|c.574_581delTGGAGTGC|p.W192fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 FAM55D|CCDS41718.1|r.755_762delUGGAGUGC|c.574_581delTGGAGTGC|p.W192fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 15 7 15 7 0 0 ./. 4 6 6 6 27 32 27 32 6 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728622930 11 120885347 T TA 300 PASS - - - - - Ins - I 120885347 120885357 1 10 267.075 - - 9 1 1 - - ./. 0 0 0 0 4 13 4 13 0 0 ./. 1 4 1 4 35 37 35 37 1 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728623312 11 122178307 ATC A 300 PASS - - - - - Del - D 122178307 122178325 2 12 270.085 - - 8 1 - - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 2 3 32 31 32 31 2 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728644160 12 52861338 TC T 420 PASS KRT6C CCDS8829.1 r.? - - Del downstream D 52861338 52861341 1 20 378.406 - - 2 1 1 KRT6C|CCDS8829.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KRT6C|CCDS8829.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 4 4 6 30 40 30 40 4 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728647837 12 65173597 CACTTA C 613 PASS TBC1D30 ENST00000229088 r.? - - Del upstream D 65173597 65173606 5 98 1026.5 - - 1 1 1 TBC1D30|ENST00000229088|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TBC1D30|ENST00000229088|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 16 14 16 0 0 ./. 13 6 15 7 45 37 45 37 15 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728649702 12 70931603 TG T 600 PASS PTPRB CCDS44943.1 r.? - - Del intronic D 70931603 70931607 1 36 539.375 - - 3 1 1 PTPRB|CCDS44943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRB|CCDS44943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 5 6 6 34 19 34 19 6 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728652950 12 82410381 AGCAGCCTCAGGAAACTTACAATCCCG A 261 PASS - - - - - Del - D 82410381 82410412 26 28 486.522 - - 1 1 1 - - ./. 0 0 0 0 6 22 6 22 0 0 ./. 3 6 2 4 24 33 25 35 3 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728655306 12 91209734 TTAAC T 389 PASS - - - - - Del - D 91209734 91209743 4 20 378.406 - - 2 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 4 5 4 43 24 43 24 5 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728669415 13 19866712 CTTTCC CCTT 269 PASS - - - - - Complex - DI 19866713 19866717 5 12 0 - - 0 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 2 0 0 44 47 44 47 3 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728671142 13 23700955 GA G 480 PASS - - - - - Del - D 23700955 23700957 1 16 433.109 - - 1 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 1 7 4 7 31 45 31 45 4 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728675388 13 34598465 GAC G 269 PASS - - - - - Del - D 34598465 34598485 2 12 256.846 - - 9 1 - - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 3 2 4 31 36 31 36 2 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728676165 13 37116789 CA C 540 PASS - - - - - Del - D 37116789 37116794 1 30 487.248 - - 4 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 5 7 6 40 30 40 30 7 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728676213 13 37320847 C CT 360 PASS - - - - - Ins - I 37320847 37320856 1 15 313.393 - - 8 1 1 - - ./. 0 0 0 0 13 18 14 18 0 0 ./. 2 4 6 5 34 31 36 31 6 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728683214 13 58971198 A AT 360 PASS - - - - - Ins - I 58971198 58971208 1 15 321.219 - - 9 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 4 2 4 2 31 29 32 29 4 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728683336 13 59317775 AGCCTAT A 261 PASS - - - - - Del - D 59317775 59317784 6 30 487.248 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 4 5 4 34 41 34 41 5 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728685135 13 64271275 AT A 298 PASS - - - - - Del - D 64271275 64271283 1 15 324.832 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 2 5 4 25 27 25 27 5 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728689867 13 78265847 A AT 480 PASS - - - - - Ins - I 78265847 78265855 1 25 428.293 - - 7 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 4 4 4 8 27 45 27 45 4 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728689881 13 78304729 TA T 660 PASS SLAIN1 CCDS31995.1 r.? - - Del intronic D 78304729 78304733 1 42 595.525 - - 3 1 1 SLAIN1|CCDS31995.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLAIN1|CCDS31995.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 6 5 9 6 35 33 35 33 9 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728690095 13 78988535 TATC T 269 PASS - - - - - Del - D 78988535 78988541 3 12 270.693 - - 1 1 1 - - ./. 0 0 0 0 22 26 22 26 0 0 ./. 2 3 2 4 25 27 25 27 2 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728694905 13 93608317 C CGT 300 PASS - - - - - Ins - I 93608317 93608333 2 10 263.468 - - 7 1 - - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 1 4 2 3 25 26 25 26 2 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728697264 13 100393822 GGGGGACGGAGTCCCACTCC G 377 PASS CLYBL ENST00000376360 r.? - - Del intronic D 100393822 100393843 19 56 696.577 - - 1 1 1 CLYBL|ENST00000376360|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLYBL|ENST00000376360|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 6 7 5 7 34 25 35 26 6 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728701555 13 112846957 ATTCTTT ATCCT 389 PASS AL162499.2 ENST00000507553 r.? - - Complex upstream DI 112846958 112846963 6 18 0 - - 0 1 1 AL162499.2|ENST00000507553|r.?|-|-|non_protein_coding:indel:5KB_upstream_variant|SO:0000011:SO:1000032:SO:0001635 AL162499.2|ENST00000507553|r.?|-|-|non_protein_coding:indel:5KB_upstream_variant|SO:0000011:SO:1000032:SO:0001635 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 2 0 0 32 21 32 21 5 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728710495 14 42399006 AATCTGTGTATTTCTTATTAAATTTAAGGGAAACTCTTAAAAATGAAAAGG A 290 PASS - - - - - Del - D 42399006 42399057 50 36 539.643 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 5 0 1 27 34 32 38 5 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728725222 14 87868140 AAAGATAAAATGTC A 319 PASS - - - - - Del - D 87868140 87868157 13 42 596.256 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 6 5 7 31 47 31 47 5 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728727238 14 93741036 AG A 360 PASS BTBD7 CCDS32146.1 r.? - - Del intronic D 93741036 93741038 1 15 324.629 - - 1 1 1 BTBD7|CCDS32146.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BTBD7|CCDS32146.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 4 4 5 24 24 24 24 4 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728727916 14 96044872 C CT 326 PASS - - - - - Ins - I 96044872 96044881 1 15 321.618 - - 8 1 1 - - ./. 0 0 0 0 3 18 3 18 0 0 ./. 2 4 4 6 21 34 21 34 4 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728728189 14 96904144 CT C 300 PASS AK7 CCDS9945.1 r.? - - Del intronic D 96904144 96904154 1 12 271.026 - - 9 1 1 AK7|CCDS9945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AK7|CCDS9945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 4 4 27 23 27 23 4 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728731164 14 106819938 T TA 267 PASS - - - - - Ins - I 106819938 106819946 1 15 321.618 - - 7 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 2 4 4 35 23 35 23 4 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728734236 15 26366401 A AAGATAT 261 PASS - - - - - Ins - I 26366401 26366409 6 24 453.938 - - 1 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 7 2 7 2 33 28 33 28 7 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728734282 15 26541248 TGGC TTG 360 PASS - - - - - Complex - DI 26541249 26541251 3 16 0 - - 0 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 3 3 0 0 31 33 31 33 3 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728753185 15 85969696 GCA G 300 PASS AKAP13 CCDS32320.1 r.? - - Del intronic D 85969696 85969701 2 12 271.253 - - 2 1 1 AKAP13|CCDS32320.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 AKAP13|CCDS32320.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 2 3 2 4 27 44 27 44 2 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728768480 16 29431153 CA C 319 PASS - - - - - Del - D 29431153 29431161 1 12 596.385 - - 7 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 11 0 21 0 54 27 54 27 21 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728773544 16 51667827 C CAAAT 420 PASS - - - - - Ins - I 51667827 51667855 4 18 361.456 - - 6 1 - - - ./. 0 0 0 0 12 10 14 10 0 0 ./. 5 2 5 3 30 26 30 27 5 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728776326 16 59938177 TA T 300 PASS AC009094.1 ENST00000500445 r.? - - Del intronic D 59938177 59938183 1 10 271.084 - - 5 1 1 AC009094.1|ENST00000500445|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC009094.1|ENST00000500445|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 1 4 2 33 24 33 24 4 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728805459 17 59641071 C CT 660 PASS - - - - - Ins - I 59641071 59641081 1 42 579.599 - - 9 1 1 - - ./. 0 0 0 0 16 24 16 24 0 0 ./. 5 6 5 6 34 50 34 50 5 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728807076 17 64304367 AT A 540 PASS PRKCA CCDS11664.1 r.? - - Del intronic D 64304367 64304375 1 28 487.408 - - 7 1 1 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 6 3 7 29 34 29 34 3 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728809893 17 71475483 CGT C 300 PASS SDK2 CCDS45769.1 r.? - - Del intronic D 71475483 71475500 2 10 269.913 - - 8 1 - SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 1 4 1 4 28 25 28 25 1 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728816327 18 7546973 AC A 360 PASS - - - - - Del - D 7546973 7546977 1 16 325.314 - - 3 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 3 4 4 46 32 46 32 4 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728822552 18 28011652 AAGACGATGAAGTAGGGACTTACAGTTAAAAT A 290 PASS - - - - - Del - D 28011652 28011686 31 35 542.19 - - 1 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 6 4 5 1 46 35 47 38 6 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728826323 18 40283358 ACT A 420 PASS - - - - - Del - D 40283358 40283368 2 20 379.533 - - 4 1 1 - - ./. 0 0 0 0 9 25 9 25 0 0 ./. 3 4 3 4 26 36 26 36 3 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728829410 18 50662331 CT C 480 PASS DCC CCDS11952.1 r.? - - Del intronic D 50662331 50662334 1 9 433.752 - - 2 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 25 21 25 0 0 ./. 0 8 1 8 28 43 28 43 1 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728830134 18 52867423 G GAAAGA 329 PASS - - - - - Ins - I 52867423 52867431 5 12 307.252 - - 1 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 5 1 5 2 41 23 41 24 5 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728845045 19 16919360 A AAAAAG 389 PASS NWD1 CCDS32945.1 r.? - - Ins intronic I 16919360 16919386 5 20 358.42 - - 5 1 - NWD1|CCDS32945.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NWD1|CCDS32945.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 10 8 10 0 0 ./. 3 4 4 5 29 26 30 26 4 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728861516 2 5002313 ACTAATTCAGGAATTCCTAC A 435 PASS - - - - - Del - D 5002313 5002333 19 72 806.678 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 7 8 7 8 32 30 32 30 7 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728865284 2 15431548 ATTGTGGTCTTAGAAACAAAACATCTCTAC A 348 PASS NBAS CCDS1685.1 r.? - - Del intronic D 15431548 15431580 29 40 645.342 - - 1 1 1 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 9 3 8 3 32 41 33 41 9 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728867089 2 21475962 GCTGCTCTGAATGT G 290 PASS - - - - - Del - D 21475962 21475979 13 32 537.785 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 7 2 7 18 45 19 45 3 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728871903 2 35967374 CTGTCTCCTACAAATAG C 348 PASS - - - - - Del - D 35967374 35967393 16 48 643.536 - - 1 1 1 - - ./. 0 0 0 0 6 20 6 20 0 0 ./. 5 7 5 8 44 35 44 35 5 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728873462 2 40121474 G GT 300 PASS - - - - - Ins - I 40121474 40121484 1 10 264.678 - - 9 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 4 1 4 1 34 27 34 27 4 1 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728873668 2 40849930 AAT A 540 PASS - - - - - Del - D 40849930 40849941 2 30 480.394 - - 5 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 5 8 7 38 35 38 35 8 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728876883 2 50696310 TG T 480 PASS NRXN1 CCDS46282.1 r.? - - Del intronic D 50696310 50696316 1 25 427.218 - - 5 1 1 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 4 8 8 41 31 41 31 8 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728877187 2 51800681 CAT C 300 PASS - - - - - Del - D 51800681 51800696 2 12 268.893 - - 7 1 1 - - ./. 0 0 0 0 20 10 20 10 0 0 ./. 3 2 3 2 29 26 29 26 3 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728879403 2 58523512 TC T 300 PASS - - - - - Del - D 58523512 58523514 1 10 260.464 - - 1 1 - - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 1 6 1 44 35 44 35 6 1 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728881967 2 66687871 TTTG T 300 PASS MEIS1 CCDS46309.1 r.? - - Del intronic D 66687871 66687901 3 12 268.893 - - 9 1 - MEIS1|CCDS46309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MEIS1|CCDS46309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 2 5 3 32 30 32 30 5 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728882641 2 68578431 ATCACAGTACAATATGCCATACTGCACTGG A 377 PASS - - - - - Del - D 68578431 68578464 29 54 697.917 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 8 5 6 34 42 34 44 5 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728883829 2 72829635 TATCAATTAATTAAAATCTTTCAA T 319 PASS EXOC6B CCDS46333.1 r.? - - Del intronic D 72829635 72829661 23 40 580.727 - - 1 1 1 EXOC6B|CCDS46333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC6B|CCDS46333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 7 4 6 4 33 41 34 41 7 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728894755 2 110097850 TC T 300 PASS SH3RF3 ENST00000309415 r.? - - Del intronic D 110097850 110097853 1 6 268.893 - - 2 1 1 SH3RF3|ENST00000309415|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3RF3|ENST00000309415|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 5 0 6 0 33 15 33 15 6 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728906438 2 147248399 CCT C 300 PASS - - - - - Del - D 147248399 147248414 2 10 268.893 - - 7 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 1 4 1 35 29 35 29 4 1 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728915382 2 176336073 T TA 300 PASS - - - - - Ins - I 176336073 176336075 1 6 264.678 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 12 0 0 ./. 0 5 0 1 25 28 25 28 0 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728920494 2 193707194 TGAAA T 327 PASS - - - - - Del - D 193707194 193707199 4 18 376.45 - - 1 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 2 5 3 7 31 31 31 31 3 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728923900 2 204849035 AGT A 389 PASS - - - - - Del - D 204849035 204849039 2 20 376.45 - - 1 1 1 - - ./. 0 0 0 0 20 5 20 5 0 0 ./. 4 3 4 5 24 41 24 41 4 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728938739 20 7389863 AC A 480 PASS - - - - - Del - D 7389863 7389867 1 24 434.699 - - 3 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 3 5 3 5 34 31 34 31 3 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728939117 20 8645093 GA G 300 PASS PLCB1 CCDS13103.1 r.? - - Del intronic D 8645093 8645103 1 12 271.085 - - 9 1 1 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 3 2 4 35 36 35 36 2 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728941911 20 16962960 C CT 360 PASS - - - - - Ins - I 16962960 16962967 1 12 322.412 - - 6 1 1 - - ./. 0 0 0 0 16 23 16 23 0 0 ./. 1 5 2 5 16 49 18 50 2 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728943957 20 24132945 AG A 420 PASS - - - - - Del - D 24132945 24132948 1 8 380.362 - - 2 1 1 - - ./. 0 0 0 0 21 8 21 8 0 0 ./. 7 0 8 1 41 38 41 38 8 1 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728946401 20 29905669 TTCTGTTTAGCCACCTAAATTTAGGTCTCCTTACAATACTCCAAAAGTCATATATATCATATGAA T 261 PASS - - - - - Del - D 29905669 29905736 64 28 487.832 - - 1 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 6 3 0 0 43 30 49 33 6 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728949652 20 40810539 T TA 300 PASS PTPRT CCDS42874.1 r.? - - Ins intronic I 40810539 40810549 1 12 266.87 - - 9 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 11 24 11 0 0 ./. 2 3 4 3 52 32 52 32 4 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728959519 21 10793946 C CGAATAGAATGGACTT 283 PASS ENSG00000232449 ENST00000422789 r.75+3_75+4insgaauagaauggacuu c.75+3_75+4insGAATAGAATGGACTT p.? Ins ess splice I 10793946 10793957 15 42 498.04 - - 0 1 1 ENSG00000232449|ENST00000422789|r.75+3_75+4insgaauagaauggacuu|c.75+3_75+4insGAATAGAATGGACTT|p.?|protein_coding:CDS:extended_cis_splice_site:insertion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000667:SO:CGPX03:SO:0001576 ENSG00000232449|ENST00000422789|r.75+3_75+4insgaauagaauggacuu|c.75+3_75+4insGAATAGAATGGACTT|p.?|protein_coding:CDS:extended_cis_splice_site:insertion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000667:SO:CGPX03:SO:0001576 ./. 0 0 0 0 35 19 38 22 0 0 ./. 6 5 0 0 83 51 86 57 6 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728963300 21 20947707 TC T 300 PASS - - - - - Del - D 20947707 20947710 1 10 269.402 - - 2 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 1 4 3 4 34 32 34 32 3 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728967641 21 32141873 CAAAT C 478 PASS - - - - - Del - D 32141873 32141883 4 30 486.85 - - 2 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 5 4 5 4 33 34 33 34 5 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728973053 21 47544462 CG C 300 PASS COL6A2 CCDS13728.1 r.? - - Del intronic D 47544462 47544464 1 6 259.167 - - 1 1 1 COL6A2|CCDS13728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL6A2|CCDS13728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 5 0 10 0 37 18 37 18 10 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728974139 22 17745499 GTC G 360 PASS - - - - - Del - D 17745499 17745516 2 16 321.124 - - 8 1 - - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 3 4 3 27 32 27 32 4 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728977620 22 27781233 T TA 360 PASS - - - - - Ins - I 27781233 27781241 1 15 324.134 - - 7 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 2 5 2 37 26 37 26 5 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728987007 3 4796630 TCC T 480 PASS ITPR1 CCDS46740.1 r.? - - Del intronic D 4796630 4796635 2 21 430.189 - - 4 1 1 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 6 4 7 22 37 22 37 4 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728987228 3 5331307 CCT C 300 PASS - - - - - Del - D 5331307 5331324 2 12 267.439 - - 8 1 - - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 2 3 33 49 33 49 2 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728990466 3 14029174 CT C 416 PASS TPRXL ENST00000326972 r.? - - Del intronic D 14029174 14029180 1 54 695.22 - - 5 1 1 TPRXL|ENST00000326972|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TPRXL|ENST00000326972|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 22 10 22 0 0 ./. 8 5 9 5 39 29 39 29 9 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728994983 3 27316266 GGAAATGCTGAT G 319 PASS NEK10 CCDS46781.1 r.? - - Del intronic D 27316266 27316280 11 40 586.318 - - 1 1 1 NEK10|CCDS46781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEK10|CCDS46781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 7 4 7 4 27 45 28 45 8 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728995662 3 29432480 ATC A 900 PASS RBMS3 CCDS33725.1 r.? - - Del intronic D 29432480 29432486 2 70 807.132 - - 2 1 1 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 9 6 11 10 31 47 31 47 11 10 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728995908 3 30122973 TATTTA T 360 PASS - - - - - Del - D 30122973 30122985 5 15 323.094 - - 2 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 2 4 4 5 13 10 13 10 4 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2728998836 3 39494468 TTG T 269 PASS - - - - - Del - D 39494468 39494472 2 6 268.643 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 0 8 0 43 40 43 40 8 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729002401 3 51435619 ATATAT A 269 PASS RBM15B CCDS33764.1 r.? - - Del downstream D 51435619 51435631 5 12 269.245 - - 2 1 1 RBM15B|CCDS33764.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 VPRBP|ENST00000273612|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 6 5 6 0 0 ./. 2 3 2 5 8 21 8 21 2 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729011684 3 78227737 AAC A 300 PASS - - - - - Del - D 78227737 78227753 2 10 269.245 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 4 1 5 32 50 32 50 1 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729023201 3 117467062 CA C 300 PASS - - - - - Del - D 117467062 117467064 1 12 269.245 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 3 4 32 36 32 36 3 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729034065 3 151777065 G GA 720 PASS - - - - - Ins - I 151777065 151777074 1 40 638.963 - - 8 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 9 5 14 43 54 43 54 5 14 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729034431 3 152803553 CTATGCA C 305 PASS - - - - - Del - D 152803553 152803564 6 36 591.134 - - 1 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 3 8 4 8 34 35 34 35 4 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729035858 3 157382422 CATA C 389 PASS C3orf55 ENST00000461040 r.? - - Del intronic D 157382422 157382428 3 18 376.943 - - 1 1 1 C3orf55|ENST00000461040|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 C3orf55|ENST00000461040|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 2 6 2 40 25 40 25 6 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729038163 3 164741600 TA T 960 PASS SI CCDS3196.1 r.? - - Del intronic D 164741600 164741603 1 81 861.583 - - 2 1 1 SI|CCDS3196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SI|CCDS3196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 8 8 9 8 45 48 45 48 9 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729038926 3 167068012 A ATACTAATCTAGACTCT 261 PASS ZBBX CCDS3199.2 r.? - - Ins intronic I 167068012 167068013 16 28 397.944 - - 0 1 1 ZBBX|CCDS3199.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZBBX|CCDS3199.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 12 0 0 ./. 3 6 2 6 36 46 36 47 3 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729043604 3 181244957 TGA T 300 PASS - - - - - Del - D 181244957 181244972 2 12 268.041 - - 7 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 3 2 3 40 43 40 43 2 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729046554 3 189309682 GACAA G 689 PASS - - - - - Del - D 189309682 189309690 4 48 646.187 - - 1 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 7 8 10 49 45 49 45 8 10 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729048253 3 193894724 TC T 780 PASS - - - - - Del - D 193894724 193894727 1 56 697.628 - - 2 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 7 6 8 8 45 39 45 39 8 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729055288 4 16962794 CA C 300 PASS - - - - - Del - D 16962794 16962801 1 12 269.215 - - 6 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 2 3 2 38 35 38 35 3 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729060482 4 32962009 A AT 300 PASS - - - - - Ins - I 32962009 32962019 1 10 266.205 - - 9 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 1 4 1 5 38 46 38 46 1 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729096112 4 145298727 A AT 420 PASS - - - - - Ins - I 145298727 145298735 1 20 372.687 - - 7 1 1 - - ./. 0 0 0 0 23 13 23 13 0 0 ./. 3 4 4 6 34 46 35 48 4 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729099240 4 155588401 G GA 300 PASS LRAT ENST00000502525 r.? - - Ins intronic I 155588401 155588411 1 12 266.205 - - 9 1 1 LRAT|ENST00000502525|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LRAT|ENST00000502525|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 2 3 2 39 44 39 44 3 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729113544 5 1206354 TTC T 269 PASS SLC6A19 CCDS34130.1 r.? - - Del intronic D 1206354 1206371 2 6 268.441 - - 8 1 1 SLC6A19|CCDS34130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC6A19|CCDS34130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 0 5 1 6 32 36 32 36 1 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729124043 5 29586860 AG A 600 PASS - - - - - Del - D 29586860 29586862 1 35 539.291 - - 1 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 6 6 8 41 36 41 36 6 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729133231 5 60204519 GAA G 300 PASS ERCC8 CCDS3978.1 r.? - - Del intronic D 60204519 60204524 2 6 269.645 - - 4 1 1 ERCC8|CCDS3978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERCC8|CCDS3978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 1 15 1 0 0 ./. 5 0 6 0 36 0 36 0 6 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729138437 5 79262280 TG T 300 PASS - - - - - Del - D 79262280 79262282 1 12 269.645 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 5 18 35 18 35 3 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729147089 5 108968782 T TC 480 PASS - - - - - Ins - I 108968782 108968792 1 9 415.177 - - 9 1 1 - - ./. 0 0 0 0 3 8 3 8 0 0 ./. 0 8 1 8 9 19 9 19 1 9 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729147314 5 110189039 ATTAAG A 300 PASS - - - - - Del - D 110189039 110189049 5 10 268.441 - - 1 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 1 4 2 34 28 34 28 4 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729155689 5 140364875 AGTGTTGGCTGATAGCCTGGTGGCCAG A 261 PASS PCDHA11 CCDS47284.1 r.? - - Del intronic D 140364875 140364902 26 30 485.362 - - 1 1 1 PCDHA11|CCDS47284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDHA11|CCDS47284.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 5 4 4 34 27 35 28 5 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729158094 5 148533695 C CA 420 PASS ABLIM3 CCDS4294.1 r.? - - Ins intronic I 148533695 148533698 1 14 373.289 - - 2 1 1 ABLIM3|CCDS4294.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABLIM3|CCDS4294.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 8 24 8 0 0 ./. 6 1 10 4 34 21 34 21 10 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729189688 6 58355068 C CAG 259 PASS - - - - - Ins - I 58355068 58355087 2 8 368.903 - - 9 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 7 0 7 0 33 20 33 20 7 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729191347 6 66555869 T TA 300 PASS - - - - - Ins - I 66555869 66555878 1 12 266.512 - - 8 1 1 - - ./. 0 0 0 0 20 22 20 22 0 0 ./. 2 3 4 3 41 42 42 42 4 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729195769 6 79741200 ACTTGAAAACAC A 319 PASS PHIP CCDS4987.1 r.? - - Del intronic D 79741200 79741212 11 40 590.541 - - 1 1 1 PHIP|CCDS4987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHIP|CCDS4987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 7 4 7 4 43 41 43 41 7 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729198870 6 90222307 AG A 420 PASS ANKRD6 CCDS47460.1 r.? - - Del intronic D 90222307 90222309 1 20 377.331 - - 1 1 1 ANKRD6|CCDS47460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ANKRD6|CCDS47460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 3 5 4 32 38 32 38 5 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729201633 6 99495612 ATCCTAATAACCTTG A 261 PASS - - - - - Del - D 99495612 99495628 14 28 485.14 - - 1 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 6 3 7 39 42 39 42 3 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729202283 6 101348729 GC G 300 PASS - - - - - Del - D 101348729 101348731 1 10 269.522 - - 1 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 1 4 1 7 30 52 30 52 1 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729203238 6 104452145 TTC T 300 PASS - - - - - Del - D 104452145 104452161 2 12 268.92 - - 7 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 2 3 2 3 46 37 46 37 2 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729206966 6 115586980 AT A 300 PASS - - - - - Del - D 115586980 115586985 1 12 269.522 - - 4 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 3 2 6 2 33 21 33 21 6 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729210269 6 125612918 C CTCTG 358 PASS HDDC2 CCDS43503.1 r.? - - Ins intronic I 125612918 125612923 4 20 360.474 - - 1 1 1 HDDC2|CCDS43503.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HDDC2|CCDS43503.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 15 14 0 0 ./. 4 3 5 3 45 35 46 35 5 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729215353 6 141343338 AG A 360 PASS - - - - - Del - D 141343338 141343340 1 7 311.988 - - 1 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 6 0 9 0 60 37 60 37 9 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729217087 6 147200876 TCTGCTAAAGAATCCCCAGCCCAGCGTTTTTTTGGTGGGGG T 290 PASS - - - - - Del - D 147200876 147200918 40 32 537.239 - - 1 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 7 3 4 0 36 33 39 36 7 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729221048 6 158652312 CT C 300 PASS - - - - - Del - D 158652312 158652322 1 12 268.92 - - 9 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 3 2 3 36 36 36 36 2 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729223338 6 164783031 AATATCATGGTTTTT A 319 PASS - - - - - Del - D 164783031 164783049 14 42 592.949 - - 1 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 5 6 5 5 38 37 38 38 5 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729225246 6 170692564 GT G 327 PASS FAM120B CCDS5314.1 r.? - - Del intronic D 170692564 170692567 1 20 376.127 - - 2 1 1 FAM120B|CCDS5314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM120B|CCDS5314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 3 7 4 41 30 41 30 7 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729230817 7 15294985 TAA T 480 PASS TMEM195 CCDS34604.1 r.? - - Del intronic D 15294985 15294993 2 24 431.49 - - 7 1 1 TMEM195|CCDS34604.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM195|CCDS34604.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 3 6 4 29 35 29 35 6 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729231589 7 17686154 AGTCAT A 356 PASS - - - - - Del - D 17686154 17686161 5 24 431.49 - - 1 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 5 3 5 4 26 42 26 42 5 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729233696 7 23836167 C CT 900 PASS STK31 CCDS43556.1 r.? - - Ins intronic I 23836167 23836176 1 72 797.605 - - 8 1 1 STK31|CCDS43556.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STK31|CCDS43556.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 8 7 10 8 37 38 38 39 10 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729233988 7 24700162 AAC A 300 PASS MPP6 CCDS5388.1 r.? - - Del intronic D 24700162 24700181 2 10 269.079 - - 9 1 1 MPP6|CCDS5388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MPP6|CCDS5388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 10 21 10 0 0 ./. 1 4 1 4 34 41 34 41 1 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729234854 7 27241164 TAGTGCTGGGGAG T 319 PASS HOXA13 CCDS5412.1 r.? - - Del upstream D 27241164 27241185 12 42 581.258 - - 1 1 1 HOXA13|CCDS5412.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 HOXA13|CCDS5412.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 5 7 3 25 32 25 32 7 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729235174 7 28154228 TC T 300 PASS JAZF1 CCDS5416.1 r.? - - Del intronic D 28154228 28154230 1 6 255.232 - - 1 1 1 JAZF1|CCDS5416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JAZF1|CCDS5416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 0 7 0 31 38 31 38 7 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729236589 7 32558266 A AT 780 PASS AVL9 CCDS34613.1 r.? - - Ins intronic I 32558266 32558274 1 36 692.141 - - 7 1 1 AVL9|CCDS34613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AVL9|CCDS34613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 11 2 14 4 42 23 42 23 14 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729238526 7 37897899 C CT 300 PASS TXNDC3 CCDS5452.1 r.? - - Ins intronic I 37897899 37897906 1 12 266.671 - - 6 1 1 TXNDC3|CCDS5452.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TXNDC3|CCDS5452.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 2 23 2 0 0 ./. 3 2 6 2 29 11 29 12 6 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729238955 7 39024432 TCTAAAAA T 261 PASS POU6F2 ENST00000403058 r.? - - Del intronic D 39024432 39024442 7 24 482.416 - - 1 1 1 POU6F2|ENST00000403058|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 POU6F2|ENST00000403058|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 2 11 4 46 32 46 32 11 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729239700 7 41382294 AG A 757 PASS ENSG00000236089 ENST00000443116 r.? - - Del intronic D 41382294 41382296 1 54 700.57 - - 1 1 1 ENSG00000236089|ENST00000443116|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000236089|ENST00000443116|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 20 17 20 0 0 ./. 5 8 7 9 25 28 25 28 7 9 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729239797 7 41755102 G GGTGCT 385 PASS - - - - - Ins - I 41755102 41755110 5 18 458.334 - - 1 1 1 - - ./. 0 0 0 0 12 26 12 26 0 0 ./. 8 1 8 2 35 30 35 30 8 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729242174 7 49464025 C CT 360 PASS - - - - - Ins - I 49464025 49464029 1 16 320.005 - - 3 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 3 3 5 25 32 25 33 3 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729245867 7 61528551 GC G 300 PASS - - - - - Del - D 61528551 61528553 1 12 269.079 - - 1 1 1 - - ./. 0 0 0 0 26 23 26 23 0 0 ./. 2 3 4 6 49 81 49 81 4 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729250118 7 70681222 AAG A 300 PASS WBSCR17 CCDS5540.1 r.? - - Del intronic D 70681222 70681240 2 10 269.682 - - 8 1 1 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 4 2 4 28 26 28 26 2 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729252389 7 77227228 T TA 480 PASS PTPN12 CCDS5592.1 r.? - - Ins intronic I 77227228 77227230 1 24 426.674 - - 1 1 1 PTPN12|CCDS5592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPN12|CCDS5592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 5 4 6 26 43 26 44 4 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729253463 7 79989842 TTC T 300 PASS - - - - - Del - D 79989842 79989860 2 12 269.682 - - 8 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 2 4 4 31 37 31 37 4 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729253508 7 80163750 AAG A 300 PASS CD36 CCDS34673.1 r.? - - Del intronic D 80163750 80163754 2 6 264.865 - - 1 1 1 CD36|CCDS34673.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CD36|CCDS34673.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 0 3 0 41 28 41 28 5 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729261265 7 104735521 A AT 420 PASS MLL5 CCDS34723.1 r.? - - Ins intronic I 104735521 104735525 1 18 373.34 - - 3 1 1 MLL5|CCDS34723.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MLL5|CCDS34723.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 2 5 2 5 11 28 11 28 2 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729270675 7 134595403 TAC T 329 PASS CALD1 CCDS5836.1 r.? - - Del intronic D 134595403 134595422 2 15 313.985 - - 9 1 - CALD1|CCDS5836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CALD1|CCDS5836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 2 4 3 30 25 30 25 4 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729273889 7 144712307 TC T 449 PASS - - - - - Del - D 144712307 144712309 1 25 431.49 - - 1 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 4 4 5 5 26 32 26 32 5 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729281887 8 8137573 CGT C 420 PASS - - - - - Del - D 8137573 8137590 2 18 378.109 - - 8 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 2 5 1 41 25 41 25 5 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729294537 8 51199267 TGTTGTCTGGGTTAAG T 319 PASS - - - - - Del - D 51199267 51199287 15 40 594.171 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 7 4 9 4 41 37 41 37 9 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729297683 8 60885266 CAT C 300 PASS - - - - - Del - D 60885266 60885270 2 10 270.078 - - 1 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 4 1 4 1 49 33 49 33 4 1 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729298887 8 64804697 AT A 480 PASS - - - - - Del - D 64804697 64804703 1 24 432.124 - - 5 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 5 3 5 4 46 37 46 37 5 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729304842 8 84969708 GT G 300 PASS - - - - - Del - D 84969708 84969710 1 6 262.853 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 0 5 0 17 31 17 31 5 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729305095 8 85778021 ACT A 420 PASS RALYL ENST00000399361 r.? - - Del intronic D 85778021 85778026 2 18 376.905 - - 2 1 1 RALYL|ENST00000399361|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RALYL|ENST00000399361|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 5 4 8 24 30 24 30 4 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729307211 8 93550179 G GA 300 PASS - - - - - Ins - I 93550179 93550189 1 10 264.659 - - 9 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 4 1 4 1 45 42 45 43 4 1 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729312528 8 111393418 TTAGAAATATGTAAGAATCCTCTCCCAGCCATTGAAACCATAGGATACACTGATG T 261 PASS - - - - - Del - D 111393418 111393475 54 30 486.14 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 5 0 1 34 29 38 33 4 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729319031 8 131839307 TA T 300 PASS ADCY8 CCDS6363.1 r.? - - Del intronic D 131839307 131839316 1 12 269.476 - - 8 1 1 ADCY8|CCDS6363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY8|CCDS6363.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 7 19 7 0 0 ./. 2 3 2 5 39 38 39 38 2 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729320279 8 136169994 A AG 300 PASS - - - - - Ins - I 136169994 136169998 1 12 256.832 - - 3 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 2 3 3 30 30 30 30 3 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729321384 8 139368523 G GAA 300 PASS FAM135B CCDS6375.2 r.? - - Ins intronic I 139368523 139368525 2 12 262.853 - - 1 1 1 FAM135B|CCDS6375.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM135B|CCDS6375.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 18 12 0 0 ./. 3 2 4 2 42 28 42 29 4 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729322472 8 143088811 GA G 360 PASS - - - - - Del - D 143088811 143088813 1 16 323.491 - - 1 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 3 4 4 20 42 20 42 4 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729328228 9 14923929 G GA 300 PASS - - - - - Ins - I 14923929 14923939 1 12 266.81 - - 9 1 1 - - ./. 0 0 0 0 11 19 11 20 0 0 ./. 3 2 3 1 46 45 46 46 3 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729329413 9 18316802 TAA T 258 PASS - - - - - Del - D 18316802 18316805 2 10 270.422 - - 2 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 1 4 1 6 32 25 32 25 1 6 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729342653 9 78144722 TAC T 300 PASS - - - - - Del - D 78144722 78144739 2 12 270.422 - - 8 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 2 3 3 3 40 41 40 41 3 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729343059 9 79329057 GATT G 420 PASS PRUNE2 CCDS47982.1 r.? - - Del intronic D 79329057 79329068 3 14 375.581 - - 3 1 1 PRUNE2|CCDS47982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRUNE2|CCDS47982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 1 6 2 7 31 39 31 39 2 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729344902 9 85442528 GACA G 360 PASS - - - - - Del - D 85442528 85442535 3 15 324.506 - - 2 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 2 4 2 25 30 25 30 4 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729349494 9 101781255 AAG A 300 PASS COL15A1 CCDS35081.1 r.? - - Del intronic D 101781255 101781273 2 6 270.422 - - 8 1 - COL15A1|CCDS35081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL15A1|CCDS35081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 5 0 5 2 30 36 30 36 5 2 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729352107 9 110930408 CA C 420 PASS - - - - - Del - D 110930408 110930410 1 18 376.785 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 5 2 7 38 40 38 40 2 7 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729355804 9 121398899 CT C 360 PASS - - - - - Del - D 121398899 121398905 1 16 320.894 - - 5 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 3 3 3 3 40 27 40 27 3 3 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729356971 9 125592190 CT C 420 PASS PDCL CCDS6845.1 r.? - - Del upstream D 125592190 125592192 1 20 378.591 - - 1 1 1 PDCL|CCDS6845.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PDCL|CCDS6845.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 3 7 4 29 15 29 15 7 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729364778 X 13941296 A AG 300 PASS GPM6B CCDS48084.1 r.? - - Ins intronic I 13941296 13941298 1 12 263.477 - - 1 1 1 GPM6B|CCDS48084.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPM6B|CCDS48084.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 2 3 5 5 38 30 38 31 5 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729370596 X 38263186 AAGAGATAGTCTTGGCTGATGCCTTTTATTCTATGAGTT A 290 PASS OTC CCDS14247.1 r.? - - Del intronic D 38263186 38263227 38 36 540.801 - - 1 1 1 OTC|CCDS14247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OTC|CCDS14247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 25 14 25 0 0 ./. 5 5 4 1 28 33 29 37 5 5 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729370597 X 38263737 GA G 420 PASS OTC CCDS14247.1 r.? - - Del intronic D 38263737 38263741 1 14 378.38 - - 3 1 1 OTC|CCDS14247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OTC|CCDS14247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 1 6 1 8 18 51 18 51 1 8 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729373457 X 49527979 G GT 300 PASS - - - - - Ins - I 49527979 49527987 1 6 267.691 - - 7 1 1 - - ./. 0 0 0 0 9 19 9 20 0 0 ./. 5 0 5 1 28 30 28 30 5 1 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729381288 X 90526386 TA T 360 PASS - - - - - Del - D 90526386 90526388 1 7 323.036 - - 1 1 1 - - ./. 0 0 0 0 4 15 4 15 0 0 ./. 6 0 10 0 33 23 33 23 10 0 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729381479 X 91485116 G GATT 269 PASS PCDH11X CCDS14461.1 r.? - - Ins intronic I 91485116 91485119 3 10 261.671 - - 0 1 1 PCDH11X|CCDS14461.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCDH11X|CCDS14461.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 2 11 2 11 0 0 ./. 1 4 1 4 4 41 4 41 1 4 1 1 1 1 1 1 1 1 2662780 PD17986a PD17986b 2729388734 X 123791298 GA G 360 PASS ODZ1 CCDS14609.1 r.? - - Del intronic D 123791298 123791308 1 15 324.842 - - 9 1 1 ODZ1|CCDS14609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ1|CCDS14609.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 4 2 4 2 29 34 29 34 4 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711574302 1 4470577 CA C 569 PASS - - - - - Del - D 4470577 4470580 1 35 525.805 - - 2 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 6 4 7 5 25 22 25 22 7 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711580514 1 23615685 G GA 300 PASS - - - - - Ins - I 23615685 23615695 1 10 265.009 - - 9 1 1 - - ./. 0 0 0 0 9 19 9 20 0 0 ./. 4 1 4 2 36 40 36 42 4 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711582215 1 28690086 GA G 300 PASS - - - - - Del - D 28690086 28690093 1 10 266.816 - - 6 1 - - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 1 4 3 7 23 19 23 19 3 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711587723 1 54941170 CG C 449 PASS - - - - - Del - D 54941170 54941175 1 24 428.952 - - 4 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 5 3 8 4 18 10 18 10 8 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711589676 1 64395094 TTC T 269 PASS ROR1 CCDS626.1 r.? - - Del intronic D 64395094 64395113 2 10 261.999 - - 9 1 1 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 4 1 4 1 13 20 13 20 4 1 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711594929 1 89099428 TTTGTAGTGTTGCCCAGGCTG T 348 PASS - - - - - Del - D 89099428 89099449 20 49 643.127 - - 1 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 6 6 6 4 13 9 13 11 6 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711599832 1 108160441 TC T 300 PASS VAV3 CCDS785.1 r.? - - Del intronic D 108160441 108160443 1 12 269.224 - - 1 1 1 VAV3|CCDS785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VAV3|CCDS785.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 3 3 5 16 24 16 24 3 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711601219 1 113931552 C CGAA 1047 PASS MAGI3 CCDS860.1 r.? - - Ins upstream I 113931552 113931553 3 108 985.723 - - 0 1 1 MAGI3|CCDS860.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 MAGI3|CCDS860.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 10 15 10 16 0 0 ./. 11 8 12 11 26 18 27 18 12 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711601236 1 114074138 GTGT G 538 PASS MAGI3 CCDS860.1 r.? - - Del intronic D 114074138 114074147 3 20 532.427 - - 2 1 1 MAGI3|CCDS860.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI3|CCDS860.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 1 9 1 11 4 22 4 22 1 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711613782 1 173280190 GT G 780 PASS AL022310.2 ENST00000421168 r.? - - Del intronic D 173280190 173280196 1 54 699.982 - - 5 1 1 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 8 5 8 6 28 23 28 23 8 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711615807 1 180418761 TTGA T 840 PASS ACBD6 CCDS1339.1 r.? - - Del intronic D 180418761 180418765 3 63 752.021 - - 1 1 1 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 6 8 9 13 26 31 26 31 9 13 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711617539 1 186415428 AT A 300 PASS PDC CCDS1370.1 r.? - - Del intronic D 186415428 186415438 1 12 269.224 - - 9 1 1 PDC|CCDS1370.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDC|CCDS1370.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 2 3 2 39 33 39 33 3 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711619636 1 192360981 TTG T 929 PASS - - - - - Del - D 192360981 192360984 2 80 860.914 - - 1 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 7 9 9 9 31 27 31 27 9 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711623876 1 205584356 T TA 399 PASS ELK4 CCDS1456.1 r.2953_2954insu c.? p.? Ins 3'UTR variant I 205584356 205584362 1 30 479.184 - - 5 1 1 ELK4|CCDS1456.1|r.2953_2954insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ELK4|CCDS1456.1|r.2953_2954insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 5 4 5 22 18 22 18 4 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711624001 1 205916019 CCA C 269 PASS SLC26A9 CCDS30990.1 r.? - - Del upstream D 205916019 205916034 2 12 269.224 - - 7 1 1 SLC26A9|CCDS30990.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SLC26A9|CCDS30990.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 2 3 30 26 30 26 2 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711627944 1 219325441 AT A 1440 PASS - - - - - Del - D 219325441 219325447 1 168 1292.27 - - 5 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 13 11 15 14 36 29 36 29 15 14 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711627955 1 219357145 AAC A 480 PASS LYPLAL1 CCDS1522.1 r.? - - Del intronic D 219357145 219357151 2 21 430.758 - - 2 1 1 LYPLAL1|CCDS1522.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LYPLAL1|CCDS1522.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 23 11 23 0 0 ./. 6 2 9 3 32 25 32 25 9 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711632818 1 235818592 TC T 300 PASS GNG4 CCDS1607.1 r.? - - Del upstream D 235818592 235818599 1 6 269.224 - - 6 1 1 GNG4|CCDS1607.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 GNG4|CCDS1607.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 0 10 0 10 0 0 ./. 0 5 0 6 1 25 1 25 0 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711633507 1 237363264 TATA T 600 PASS RYR2 ENST00000366574 r.? - - Del intronic D 237363264 237363271 3 36 538.448 - - 2 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 5 5 9 6 40 26 40 26 9 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711634585 1 240332946 A AT 300 PASS FMN2 CCDS31069.2 r.? - - Ins intronic I 240332946 240332956 1 12 263.805 - - 9 1 1 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 8 18 8 0 0 ./. 2 3 3 3 37 27 37 27 3 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711640326 10 7909257 C CA 480 PASS TAF3 CCDS41487.1 r.? - - Ins intronic I 7909257 7909265 1 24 418.023 - - 7 1 1 TAF3|CCDS41487.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TAF3|CCDS41487.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 16 7 16 0 0 ./. 3 5 7 9 24 17 24 17 7 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711645577 10 27136553 T TA 900 PASS ABI1 CCDS7150.1 r.? - - Ins intronic I 27136553 27136562 1 66 799.447 - - 8 1 1 ABI1|CCDS7150.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABI1|CCDS7150.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 5 10 6 12 22 28 23 29 6 12 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711658369 10 76132490 GATATTT G 319 PASS ADK CCDS7344.1 r.? - - Del intronic D 76132490 76132497 6 36 593.446 - - 1 1 1 ADK|CCDS7344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADK|CCDS7344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 8 3 8 5 17 16 17 16 8 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711659093 10 79795532 CGTT C 958 PASS RPS24 CCDS44443.1 r.? - - Del intronic D 79795532 79795538 3 88 919.004 - - 1 1 1 RPS24|CCDS44443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPS24|CCDS44443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 10 7 13 7 22 20 22 20 13 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711659962 10 84148405 T TA 540 PASS NRG3 CCDS31233.1 r.? - - Ins intronic I 84148405 84148412 1 30 479.909 - - 6 1 1 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 4 5 5 10 13 28 14 28 5 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711666244 10 109965368 CA C 1140 PASS - - - - - Del - D 109965368 109965370 1 104 1026.52 - - 1 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 7 12 11 12 17 25 17 25 11 12 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711678615 11 18437915 CTAAGAAGCCTCAGATAATTAGGAAACATAATTAT C 435 PASS LDHC CCDS7840.1 r.? - - Del intronic D 18437915 18437951 34 72 811.074 - - 1 1 1 LDHC|CCDS7840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LDHC|CCDS7840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 8 7 5 4 32 20 35 23 8 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711686969 11 44311437 GT G 629 PASS ALX4 CCDS31468.1 r.? - - Del intronic D 44311437 44311439 1 42 589.811 - - 1 1 1 ALX4|CCDS31468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALX4|CCDS31468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 5 10 7 20 21 20 21 10 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711688571 11 49493451 TTCTA T 400 PASS - - - - - Del - D 49493451 49493461 4 45 649.341 - - 2 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 8 4 10 5 25 22 25 22 10 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711693836 11 70855179 AG A 689 PASS SHANK2 ENST00000338508 r.? - - Del intronic D 70855179 70855181 1 49 644.524 - - 1 1 1 SHANK2|ENST00000338508|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHANK2|ENST00000338508|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 6 11 9 21 19 21 19 11 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711696070 11 80753284 A AT 900 PASS - - - - - Ins - I 80753284 80753290 1 70 802.043 - - 5 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 6 9 6 10 15 21 15 22 6 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711696532 11 82260873 GACA G 269 PASS - - - - - Del - D 82260873 82260880 3 6 270.559 - - 2 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 0 5 1 6 16 22 16 22 1 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711704100 11 112043298 CTT C 840 PASS BCO2 CCDS41716.1 r.? - - Del upstream D 112043298 112043305 2 60 756.962 - - 6 1 1 BCO2|CCDS41716.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 BCO2|CCDS41716.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 10 13 10 0 0 ./. 9 5 12 10 19 15 19 15 12 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711714894 12 13623012 T TTATATA 261 PASS - - - - - Ins - I 13623012 13623029 6 18 452.189 - - 8 1 1 - - ./. 0 0 0 0 4 6 4 6 0 0 ./. 1 8 2 9 6 19 6 19 2 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711719028 12 27015561 GCT G 360 PASS - - - - - Del - D 27015561 27015576 2 15 324.739 - - 7 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 2 4 2 4 27 24 27 24 2 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711731315 12 72956847 ATAT A 600 PASS TRHDE CCDS9004.1 r.? - - Del intronic D 72956847 72956852 3 35 541.232 - - 1 1 1 TRHDE|CCDS9004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRHDE|CCDS9004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 6 10 10 37 32 37 32 10 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711733231 12 80477393 GC G 471 PASS - - - - - Del - D 80477393 80477396 1 25 432.985 - - 2 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 4 4 5 5 21 20 21 20 5 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711738169 12 97103935 CT C 540 PASS C12orf63 CCDS9062.1 r.? - - Del intronic D 97103935 97103937 1 30 485.904 - - 1 1 1 C12orf63|CCDS9062.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C12orf63|CCDS9062.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 5 7 6 15 19 15 19 7 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711742602 12 113136900 A AT 269 PASS MIR1302-1 ENST00000408633 r.? - - Ins upstream I 113136900 113136907 1 10 266.401 - - 6 1 1 MIR1302-1|ENST00000408633|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 MIR1302-1|ENST00000408633|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 1 6 3 16 8 17 8 6 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711746594 12 125642069 TG T 900 PASS - - - - - Del - D 125642069 125642072 1 72 810.643 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 7 8 12 9 37 20 37 20 12 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711752956 13 29504249 AATGT A 269 PASS - - - - - Del - D 29504249 29504255 4 10 269.143 - - 1 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 1 4 1 6 9 16 9 16 1 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711753521 13 31181462 AAGG A 300 PASS HMGB1 CCDS9335.1 r.? - - Del intronic D 31181462 31181468 3 12 266.132 - - 1 1 1 HMGB1|CCDS9335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HMGB1|CCDS9335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 3 2 16 18 16 18 3 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711768871 13 89781596 AT A 420 PASS - - - - - Del - D 89781596 89781604 1 20 379.569 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 3 5 4 11 16 11 16 5 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711769682 13 92449347 T TA 360 PASS GPC5 CCDS9468.1 r.? - - Ins intronic I 92449347 92449357 1 12 322.249 - - 9 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 1 5 5 20 19 20 19 5 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711777067 14 22570811 G GAC 360 PASS TRAC ENST00000446346 r.? - - Ins intronic I 22570811 22570822 2 7 318.489 - - 5 1 - TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 5 14 5 0 0 ./. 0 6 0 1 22 29 22 29 0 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711777566 14 23644423 GTGTT G 480 PASS SLC7A8 CCDS9590.1 r.? - - Del intronic D 23644423 23644444 4 16 434.285 - - 5 1 - SLC7A8|CCDS9590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC7A8|CCDS9590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 7 1 9 3 30 24 30 24 9 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711778845 14 28063343 C CT 509 PASS - - - - - Ins - I 28063343 28063351 1 30 483.152 - - 7 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 5 6 5 31 28 32 28 6 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711796849 14 87330743 AT A 420 PASS - - - - - Del - D 87330743 87330745 1 20 379.398 - - 1 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 4 8 7 28 23 28 23 8 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711808754 15 37196393 G GA 300 PASS MEIS2 CCDS45217.1 r.? - - Ins intronic I 37196393 37196403 1 12 266.022 - - 9 1 1 MEIS2|CCDS45217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MEIS2|CCDS45217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 2 3 2 37 36 37 37 3 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711822814 15 81582241 ACAGAAGGAAGAAATGGAGG A 464 PASS IL16 CCDS42069.1 r.? - - Del intronic D 81582241 81582262 19 56 868.608 - - 1 1 1 IL16|CCDS42069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL16|ENST00000394655|r.1709-3_1724del19|c.1333-3_1348del19|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 17 3 17 3 0 0 ./. 13 3 13 3 36 17 36 17 13 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711827758 15 98010067 A AAG 361 PASS - - - - - Ins - I 98010067 98010079 2 8 368.577 - - 5 1 - - - ./. 0 0 0 0 12 6 13 6 0 0 ./. 7 0 0 1 42 20 43 20 7 1 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711839144 16 26385591 GT G 300 PASS - - - - - Del - D 26385591 26385593 1 6 269.513 - - 1 1 - - - ./. 0 0 0 0 24 8 24 8 0 0 ./. 5 0 7 0 50 37 50 37 7 0 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711842415 16 33541326 T TA 360 PASS - - - - - Ins - I 33541326 33541331 1 8 375.632 - - 4 1 1 - - ./. 0 0 0 0 22 33 22 33 0 0 ./. 0 7 8 9 70 110 70 110 8 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711848022 16 64039604 AT A 420 PASS - - - - - Del - D 64039604 64039607 1 20 379.847 - - 2 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 4 3 5 10 22 20 22 20 5 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711858405 17 13376847 TA T 720 PASS - - - - - Del - D 13376847 13376857 1 33 651.11 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 10 10 13 20 30 20 30 10 13 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711863033 17 32159483 CT C 449 PASS ACCN1 CCDS42296.1 r.? - - Del intronic D 32159483 32159486 1 25 434.474 - - 2 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 4 5 5 24 25 24 25 5 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711864195 17 36552121 GA G 420 PASS SOCS7 CCDS32637.1 r.1770delA c.1647delA p.K550fs*15 Del frameshift D 36552121 36552125 1 18 375.951 - - 3 1 1 SOCS7|CCDS32637.1|r.1770delA|c.1647delA|p.K550fs*15|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SOCS7|CCDS32637.1|r.1770delA|c.1647delA|p.K550fs*15|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 2 6 2 30 26 30 26 6 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711864263 17 36797117 A AAC 418 PASS - - - - - Ins - I 36797117 36797119 2 9 397.749 - - 0 1 - - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 0 8 0 1 24 16 24 19 0 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711865905 17 42222599 T TG 629 PASS C17orf53 CCDS11477.1 r.217_218insg c.32_33insG p.E12fs*5 Ins frameshift I 42222599 42222602 1 42 590.78 - - 2 1 1 C17orf53|CCDS11477.1|r.217_218insg|c.32_33insG|p.E12fs*5|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 C17orf53|CCDS11477.1|r.217_218insg|c.32_33insG|p.E12fs*5|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 5 8 5 30 28 31 28 8 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711869073 17 51443745 A AT 480 PASS - - - - - Ins - I 51443745 51443748 1 25 429.658 - - 2 1 1 - - ./. 0 0 0 0 17 11 18 11 0 0 ./. 4 4 6 6 27 24 27 24 6 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711871143 17 59276547 CTTCT C 389 PASS BCAS3 CCDS45749.1 r.? - - Del intronic D 59276547 59276552 4 18 380.165 - - 1 1 1 BCAS3|CCDS45749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCAS3|CCDS45749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 5 2 5 3 21 36 21 36 5 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711876854 17 76647900 C CT 956 PASS - - - - - Ins - I 76647900 76647905 1 96 966.73 - - 4 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 11 7 12 9 28 24 28 24 12 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711877664 17 79369710 TCTGAGCG T 464 PASS BAHCC1 ENST00000436173 r.? - - Del upstream D 79369710 79369720 7 81 862.326 - - 1 1 1 BAHCC1|ENST00000436173|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 BAHCC1|ENST00000436173|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 4 14 4 0 0 ./. 8 8 9 9 26 18 26 18 9 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711881184 18 8028002 C CT 600 PASS PTPRM CCDS11840.1 r.? - - Ins intronic I 8028002 8028011 1 35 536.784 - - 8 1 1 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 4 6 5 9 31 27 31 27 5 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711882792 18 13345975 CTTT C 362 PASS C18orf1 CCDS32793.1 r.? - - Del intronic D 13345975 13345979 3 48 651.365 - - 3 1 1 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 7 8 8 31 31 31 31 8 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711883267 18 14677422 C CA 317 PASS - - - - - Ins - I 14677422 14677432 1 20 366.115 - - 9 1 1 - - ./. 0 0 0 0 14 17 14 18 0 0 ./. 4 3 9 5 34 31 34 31 9 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711886389 18 27592698 CA C 420 PASS - - - - - Del - D 27592698 27592708 1 20 379.963 - - 9 1 1 - - ./. 0 0 0 0 1 15 1 15 0 0 ./. 4 3 5 7 13 30 13 30 5 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711887633 18 32027682 CAG C 300 PASS - - - - - Del - D 32027682 32027700 2 12 270.198 - - 8 1 - - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 2 3 5 5 24 37 24 37 5 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711896191 18 61358431 AG A 900 PASS ENSG00000234045 ENST00000447812 r.? - - Del intronic D 61358431 61358434 1 72 812.4 - - 2 1 1 ENSG00000234045|ENST00000447812|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000234045|ENST00000447812|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 7 18 7 0 0 ./. 8 7 9 8 32 24 32 24 9 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711900845 18 75403449 TC T 780 PASS - - - - - Del - D 75403449 75403455 1 14 705.645 - - 5 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 13 0 15 1 42 11 42 11 15 1 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711905606 19 11836341 TAAC T 689 PASS ZNF823 CCDS45981.1 r.? - - Del intronic D 11836341 11836346 3 49 650.484 - - 1 1 1 ZNF823|CCDS45981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF823|CCDS45981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 6 6 6 7 27 32 27 32 6 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711907985 19 19713483 A AT 480 PASS PBX4 CCDS12406.1 r.? - - Ins intronic I 19713483 19713485 1 24 429.643 - - 1 1 1 PBX4|CCDS12406.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PBX4|CCDS12406.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 3 8 7 27 21 27 21 8 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711912580 19 36481713 G GAGGAGGA 300 PASS SDHAF1 CCDS32999.1 r.? - - Ins upstream I 36481713 36481737 7 6 250.465 - - 3 1 1 SDHAF1|CCDS32999.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SDHAF1|CCDS32999.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 5 13 5 0 0 ./. 5 0 0 2 41 22 42 23 5 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711917710 19 50161902 CCT C 869 PASS SCAF1 CCDS33074.1 r.? - - Del downstream D 50161902 50161905 2 70 810.998 - - 1 1 1 SCAF1|CCDS33074.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 SCAF1|CCDS33074.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 9 7 10 100 98 100 98 7 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711917864 19 50382864 T TG 300 PASS AKT1S1 CCDS12784.1 r.? - - Ins upstream I 50382864 50382865 1 6 259.496 - - 0 1 - AKT1S1|CCDS12784.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TBC1D17|CCDS12785.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 20 8 20 0 0 ./. 0 5 14 8 93 135 93 135 14 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711917907 19 50442823 A AC 360 PASS - - - - - Ins - I 50442823 50442824 1 16 315.609 - - 0 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 3 5 5 64 51 64 52 5 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711918035 19 50602013 TA T 667 PASS - - - - - Del - D 50602013 50602023 1 24 1249.07 - - 9 1 1 - - ./. 0 0 0 0 21 1 22 1 0 0 ./. 23 0 28 0 395 5 395 5 28 0 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711918528 19 51910628 AG A 300 PASS SIGLEC10 CCDS12832.1 r.? - - Del downstream D 51910628 51910630 1 6 260.7 - - 1 1 - SIGLEC10|CCDS12832.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SIGLEC10|CCDS12832.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 0 21 0 90 60 90 60 21 0 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711921843 2 724133 TC T 840 PASS - - - - - Del - D 724133 724136 1 55 753.78 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 10 11 15 28 31 28 31 11 15 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711925431 2 14285436 AT A 720 PASS - - - - - Del - D 14285436 14285442 1 45 646.613 - - 5 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 8 4 9 8 31 20 31 20 9 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711925820 2 15666685 T TA 420 PASS NBAS CCDS1685.1 r.? - - Ins intronic I 15666685 15666695 1 20 372.976 - - 9 1 1 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 4 15 5 0 0 ./. 4 3 9 7 32 29 32 29 9 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711928459 2 26003945 AG A 360 PASS ASXL2 ENST00000435504 r.? - - Del intronic D 26003945 26003947 1 7 314.276 - - 1 1 - ASXL2|ENST00000435504|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASXL2|ENST00000435504|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 6 0 10 0 30 11 30 11 10 0 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711935494 2 50723429 GT G 360 PASS NRXN1 CCDS46282.1 r.? - - Del intronic D 50723429 50723434 1 15 323.306 - - 4 1 1 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 2 5 4 31 26 31 26 5 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711938345 2 62228765 G GA 480 PASS COMMD1 CCDS1869.1 r.? - - Ins intronic I 62228765 62228775 1 25 425.657 - - 9 1 1 COMMD1|CCDS1869.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COMMD1|CCDS1869.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 4 5 4 37 33 37 33 5 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711943485 2 81993621 G GT 660 PASS - - - - - Ins - I 81993621 81993623 1 36 584.902 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 8 7 11 22 29 23 29 7 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711943964 2 84083938 C CTT 600 PASS - - - - - Ins - I 84083938 84083942 2 35 526.201 - - 3 1 1 - - ./. 0 0 0 0 18 13 20 13 0 0 ./. 6 4 6 6 34 22 34 22 6 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711947378 2 99034984 T TG 1140 PASS - - - - - Ins - I 99034984 99034993 1 110 1002.73 - - 8 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 9 10 12 12 35 28 35 28 13 13 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711951193 2 114709903 C CTT 300 PASS ACTR3 CCDS33277.1 r.? - - Ins intronic I 114709903 114709905 2 10 262.799 - - 1 1 1 ACTR3|CCDS33277.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACTR3|CCDS33277.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 1 4 1 5 20 25 20 26 1 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711951356 2 115481607 A AT 1260 PASS DPP10 CCDS46400.1 r.? - - Ins intronic I 115481607 115481614 1 130 1116.52 - - 6 1 1 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 12 9 15 13 41 25 42 25 15 13 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711957969 2 139921902 CG C 360 PASS - - - - - Del - D 139921902 139921909 1 15 323.306 - - 6 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 2 6 3 25 21 25 21 6 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711964629 2 165283134 C CA 989 PASS - - - - - Ins - I 165283134 165283142 1 60 901.585 - - 7 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 14 3 20 4 42 22 42 23 20 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711973773 2 198018044 C CCAAACTT 290 PASS ANKRD44 CCDS33355.1 r.? - - Ins intronic I 198018044 198018053 7 27 496.7 - - 1 1 1 ANKRD44|CCDS33355.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKRD44|CCDS33355.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 8 2 10 2 41 18 41 18 10 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711978231 2 213828598 GT G 697 PASS - - - - - Del - D 213828598 213828602 1 49 646.613 - - 3 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 6 6 8 11 29 26 29 26 8 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711988811 20 7691122 C CA 300 PASS - - - - - Ins - I 7691122 7691132 1 10 257.635 - - 9 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 1 4 1 34 24 35 25 4 1 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711989106 20 8788285 G GA 509 PASS PLCB1 CCDS13103.1 r.? - - Ins intronic I 8788285 8788292 1 30 482.527 - - 6 1 1 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 14 5 14 0 0 ./. 4 5 5 9 11 21 11 22 5 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2711997235 20 39645533 AT A 300 PASS - - - - - Del - D 39645533 39645535 1 6 265.462 - - 1 1 1 - - ./. 0 0 0 0 11 2 11 2 0 0 ./. 5 0 13 0 50 27 50 27 13 0 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712003857 20 60784817 T TC 2069 PASS - - - - - Ins - I 60784817 60784822 1 322 1872.68 - - 4 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 13 22 20 32 40 54 40 55 20 32 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712018661 22 18408428 A AT 360 PASS ENSG00000093100 CCDS46659.1 r.? - - Ins intronic I 18408428 18408438 1 15 324.311 - - 9 1 1 ENSG00000093100|CCDS46659.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENSG00000093100|CCDS46659.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 14 15 0 0 ./. 2 4 8 8 28 35 28 36 8 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712023483 22 33458042 TG T 300 PASS SYN3 CCDS13908.1 r.? - - Del upstream D 33458042 33458044 1 6 251.595 - - 1 1 1 SYN3|CCDS13908.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SYN3|CCDS13908.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 0 9 0 24 30 24 30 9 0 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712026083 22 41603098 TAGAGCCAGGATTCAAACTC T 290 PASS L3MBTL2 CCDS14011.1 r.? - - Del intronic D 41603098 41603120 19 32 546.539 - - 1 1 1 L3MBTL2|CCDS14011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 L3MBTL2|CCDS14011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 7 4 7 21 30 21 30 4 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712029224 3 713530 CTG C 449 PASS - - - - - Del - D 713530 713535 2 25 429.394 - - 2 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 4 4 6 6 31 27 31 27 6 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712050457 3 76434935 C CA 300 PASS ROBO2 ENST00000487694 r.? - - Ins intronic I 76434935 76434944 1 12 266.264 - - 8 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 2 3 4 3 22 34 22 35 4 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712052627 3 85301972 GGTCAGTA G 319 PASS CADM2 ENST00000383699 r.? - - Del intronic D 85301972 85301983 7 42 593.728 - - 1 1 1 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 6 7 7 28 23 28 23 7 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712052818 3 85795601 CA C 1380 PASS CADM2 CCDS33792.1 r.? - - Del intronic D 85795601 85795607 1 126 1240.23 - - 5 1 1 CADM2|CCDS33792.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADM2|CCDS33792.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 17 10 24 26 41 26 41 10 24 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712054466 3 95061474 C CT 540 PASS - - - - - Ins - I 95061474 95061484 1 28 479.757 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 3 10 3 34 29 34 29 10 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712054853 3 96228908 TA T 480 PASS - - - - - Del - D 96228908 96228918 1 24 431.802 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 3 7 8 21 35 21 35 7 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712055287 3 98515897 A AC 300 PASS DCBLD2 CCDS46878.1 r.5009_5010insg c.? p.? Ins 3'UTR variant I 98515897 98515898 1 10 262.652 - - 0 1 - DCBLD2|CCDS46878.1|r.5009_5010insg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 DCBLD2|CCDS46878.1|r.5009_5010insg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 13 8 13 8 0 0 ./. 1 4 1 6 20 30 20 30 1 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712058659 3 109872239 TA T 600 PASS - - - - - Del - D 109872239 109872248 1 35 539.753 - - 8 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 4 6 6 8 24 25 24 25 6 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712064090 3 130268403 G GT 300 PASS - - - - - Ins - I 130268403 130268413 1 10 266.264 - - 9 1 1 - - ./. 0 0 0 0 12 18 13 18 0 0 ./. 1 4 1 4 29 31 30 31 1 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712066361 3 139022365 GA G 660 PASS MRPS22 CCDS3107.1 r.? - - Del intronic D 139022365 139022367 1 42 591.922 - - 1 1 1 MRPS22|CCDS3107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MRPS22|CCDS3107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 6 7 8 23 15 23 15 7 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712067422 3 142953800 G GT 540 PASS - - - - - Ins - I 142953800 142953809 1 24 480.359 - - 8 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 7 2 9 2 25 22 25 23 9 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712071650 3 158749412 A AT 360 PASS - - - - - Ins - I 158749412 158749415 1 7 317.229 - - 2 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 6 0 8 2 35 28 35 29 8 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712075816 3 174925274 A AT 540 PASS NAALADL2 CCDS46960.1 r.? - - Ins intronic I 174925274 174925280 1 24 480.359 - - 5 1 1 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 23 18 23 0 0 ./. 2 7 6 10 19 24 19 25 6 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712082969 4 1111849 TG T 720 PASS RNF212 CCDS3345.1 r.? - - Del upstream D 1111849 1111851 1 45 646.083 - - 1 1 1 RNF212|CCDS3345.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RNF212|CCDS3345.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 8 5 10 23 34 23 34 5 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712089943 4 23994724 CA C 625 PASS - - - - - Del - D 23994724 23994733 1 54 700.575 - - 8 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 5 8 10 8 37 31 37 31 10 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712112462 4 95209930 CACTA C 896 PASS SMARCAD1 CCDS47101.1 r.? - - Del intronic D 95209930 95209939 4 88 914.932 - - 2 1 1 SMARCAD1|CCDS47101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMARCAD1|CCDS47101.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 10 7 14 9 41 27 41 27 14 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712114983 4 104129980 ATTG A 600 PASS - - - - - Del - D 104129980 104129986 3 35 538.904 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 4 9 4 31 27 31 27 9 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712120681 4 123315020 A AT 780 PASS ADAD1 CCDS34058.1 r.? - - Ins intronic I 123315020 123315030 1 56 690.34 - - 9 1 1 ADAD1|CCDS34058.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAD1|CCDS34058.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 14 0 0 ./. 7 6 9 10 36 32 36 32 9 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712124362 4 135485769 GT G 660 PASS - - - - - Del - D 135485769 135485775 1 42 592.794 - - 5 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 5 6 9 8 21 24 21 24 9 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712125261 4 138432824 TC T 300 PASS - - - - - Del - D 138432824 138432827 1 12 268.85 - - 2 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 2 3 3 26 24 26 25 3 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712125880 4 140299909 GAA G 780 PASS NAA15 CCDS43270.1 r.2380_2381delAA c.2057_2058delAA p.K687fs*15 Del frameshift D 140299909 140299914 2 54 700.575 - - 4 1 1 NAA15|CCDS43270.1|r.2380_2381delAA|c.2057_2058delAA|p.K687fs*15|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 NAA15|CCDS43270.1|r.2380_2381delAA|c.2057_2058delAA|p.K687fs*15|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 8 9 9 26 37 26 37 9 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712127290 4 145466486 ATCACAGATCAACACTAATTCATT A 435 PASS - - - - - Del - D 145466486 145466511 23 66 808.356 - - 1 1 1 - - ./. 0 0 0 0 14 4 14 4 0 0 ./. 5 10 3 11 32 29 34 29 5 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712128232 4 148814214 A AC 300 PASS ARHGAP10 CCDS34075.1 r.? - - Ins intronic I 148814214 148814215 1 12 263.431 - - 0 1 1 ARHGAP10|CCDS34075.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP10|CCDS34075.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 2 4 14 21 14 21 2 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712131293 4 159124200 C CCT 300 PASS TMEM144 ENST00000505189 r.? - - Ins intronic I 159124200 159124201 2 12 255.605 - - 0 1 - TMEM144|ENST00000505189|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TMEM144|ENST00000505189|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 3 1 1 27 20 28 20 3 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712132443 4 162435639 G GA 300 PASS FSTL5 CCDS3802.1 r.? - - Ins intronic I 162435639 162435645 1 12 266.442 - - 5 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 2 4 29 28 30 29 2 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712133964 4 166677467 TAGA TC 689 PASS - - - - - Complex - DI 166677468 166677470 3 33 0 - - 0 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 10 2 0 0 34 16 34 16 10 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712136109 4 173366004 G GA 300 PASS GALNTL6 CCDS34104.1 r.? - - Ins intronic I 173366004 173366014 1 12 266.442 - - 9 1 1 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 3 2 3 24 21 24 21 2 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712142407 4 190122128 TGG T 1200 PASS - - - - - Del - D 190122128 190122131 2 117 1074.8 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 12 8 12 9 35 34 35 34 12 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712143838 5 164036 GTGTTAGGGGTTAGAAGGCGCAC G 377 PASS PLEKHG4B CCDS34124.1 r.? - - Del intronic D 164036 164059 22 54 696.972 - - 1 1 1 PLEKHG4B|CCDS34124.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLEKHG4B|CCDS34124.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 8 5 7 5 30 21 31 21 8 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712146432 5 8039179 TA T 540 PASS - - - - - Del - D 8039179 8039184 1 28 484.047 - - 4 1 - - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 6 3 10 8 30 24 30 24 10 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712148976 5 16545338 GA G 780 PASS FAM134B CCDS43304.1 r.? - - Del intronic D 16545338 16545343 1 50 700.584 - - 4 1 1 FAM134B|CCDS43304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM134B|CCDS43304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 9 6 14 18 39 18 39 6 14 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712154824 5 33728128 A AT 1020 PASS ADAMTS12 ENST00000504830 r.? - - Ins intronic I 33728128 33728133 1 90 907.488 - - 4 1 1 ADAMTS12|ENST00000504830|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAMTS12|ENST00000504830|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 8 9 12 10 24 31 24 31 12 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712155355 5 35122332 TTTC T 269 PASS PRLR CCDS3909.1 r.? - - Del intronic D 35122332 35122338 3 6 260.888 - - 1 1 1 PRLR|CCDS3909.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PRLR|CCDS3909.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 0 9 1 45 30 45 30 9 1 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712157416 5 42323530 C CA 300 PASS - - - - - Ins - I 42323530 42323540 1 10 265.102 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 1 4 1 32 30 32 31 4 1 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712160113 5 54592929 A AT 600 PASS DHX29 CCDS34158.1 r.? - - Ins intronic I 54592929 54592934 1 32 533.816 - - 4 1 1 DHX29|CCDS34158.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DHX29|CCDS34158.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 7 3 10 3 33 19 34 19 10 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712162517 5 62525501 TA T 1039 PASS - - - - - Del - D 62525501 62525503 1 104 1025.69 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 12 7 12 11 30 40 30 40 12 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712163008 5 64342623 GC G 569 PASS - - - - - Del - D 64342623 64342628 1 35 534.418 - - 4 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 6 4 11 9 40 23 40 23 11 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712170492 5 90721615 GTCTT G 298 PASS - - - - - Del - D 90721615 90721626 4 15 323.902 - - 2 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 4 3 6 31 28 31 28 3 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712172831 5 99339947 CAT C 300 PASS - - - - - Del - D 99339947 99339952 2 10 269.918 - - 2 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 1 5 3 35 30 35 30 5 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712176975 5 114414524 CA C 420 PASS - - - - - Del - D 114414524 114414528 1 20 374.876 - - 3 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 3 4 5 8 38 24 38 24 5 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712181864 5 131832260 T TATCTCACCCTGCGAGATG 377 PASS - - - - - Ins - I 131832260 131832279 18 44 559.702 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 10 3 3 0 32 13 39 16 10 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712183795 5 139186986 TCTC T 389 PASS PSD2 CCDS4216.1 r.? - - Del intronic D 139186986 139186996 3 8 376.682 - - 3 1 1 PSD2|CCDS4216.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PSD2|CCDS4216.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 0 7 0 8 14 30 14 30 0 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712191757 5 168602908 AC A 480 PASS SLIT3 CCDS4369.1 r.? - - Del intronic D 168602908 168602910 1 21 430.665 - - 1 1 1 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT3|CCDS4369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 2 11 3 24 20 24 20 11 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712195625 5 180388393 AT A 720 PASS - - - - - Del - D 180388393 180388402 1 48 647.804 - - 8 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 5 7 10 8 25 36 25 36 10 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712216628 6 66175210 A AT 1020 PASS EYS CCDS47445.1 r.? - - Ins intronic I 66175210 66175219 1 88 907.019 - - 8 1 1 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 7 10 7 10 21 30 21 30 7 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712219379 6 75421853 GAA G 420 PASS - - - - - Del - D 75421853 75421858 2 18 378.189 - - 4 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 5 2 7 4 38 33 38 33 7 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712232775 6 127000928 GA G 759 PASS - - - - - Del - D 127000928 127000933 1 44 701.146 - - 4 1 1 - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 10 3 13 4 34 13 34 13 13 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712232918 6 128193418 T TA 900 PASS THEMIS CCDS34534.1 r.? - - Ins intronic I 128193418 128193425 1 72 794.751 - - 6 1 1 THEMIS|CCDS34534.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 THEMIS|CCDS34534.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 8 7 10 11 31 23 31 23 10 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712233864 6 132716302 G GA 660 PASS MOXD1 CCDS5152.2 r.? - - Ins intronic I 132716302 132716311 1 42 586.47 - - 8 1 1 MOXD1|CCDS5152.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MOXD1|CCDS5152.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 15 0 0 ./. 6 5 9 7 25 25 25 25 9 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712237546 6 150354727 GT G 300 PASS - - - - - Del - D 150354727 150354729 1 6 258.094 - - 1 1 - - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 0 5 0 16 14 16 14 5 0 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712246630 7 12728977 GAGTA G 960 PASS ARL4A CCDS5359.1 r.1581_1584delAGUA c.? p.? Del 3'UTR variant D 12728977 12728986 4 99 959.899 - - 2 1 1 ARL4A|CCDS5359.1|r.1581_1584delAGUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ARL4A|CCDS5359.1|r.1581_1584delAGUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 6 12 6 12 0 0 ./. 10 8 14 10 42 31 42 31 14 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712249440 7 21441033 CCAAAGT C 290 PASS - - - - - Del - D 21441033 21441040 6 36 539.967 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 5 5 5 31 22 31 22 5 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712251572 7 27979923 GT G 300 PASS JAZF1 CCDS5416.1 r.? - - Del intronic D 27979923 27979925 1 6 269.381 - - 1 1 1 JAZF1|CCDS5416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JAZF1|CCDS5416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 5 0 6 0 36 24 36 24 6 0 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712259661 7 53996920 CTGTT C 1347 PASS - - - - - Del - D 53996920 53996927 4 153 1286.89 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 8 16 9 17 22 32 22 32 9 17 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712262614 7 63529685 A AT 480 PASS - - - - - Ins - I 63529685 63529691 1 21 426.555 - - 5 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 6 3 7 26 40 27 40 3 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712270136 7 85476670 TTG T 300 PASS - - - - - Del - D 85476670 85476688 2 12 269.983 - - 8 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 2 3 33 29 33 29 2 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712270549 7 86852490 A AACTT 898 PASS C7orf23 CCDS5602.1 r.? - - Ins upstream I 86852490 86852498 4 77 825.415 - - 1 1 1 C7orf23|CCDS5602.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 C7orf23|CCDS5602.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 22 15 22 15 0 0 ./. 6 10 7 10 35 26 35 26 7 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712270576 7 86968733 TTAAC T 958 PASS - - - - - Del - D 86968733 86968741 4 88 917.944 - - 1 1 1 - - ./. 0 0 0 0 8 21 8 21 0 0 ./. 7 10 8 12 23 33 23 33 8 12 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712273044 7 96080087 CT C 449 PASS - - - - - Del - D 96080087 96080089 1 24 430.769 - - 1 1 1 - - ./. 0 0 0 0 7 20 7 20 0 0 ./. 5 3 9 7 23 22 23 22 9 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712273312 7 96928413 A AT 300 PASS - - - - - Ins - I 96928413 96928423 1 12 266.973 - - 9 1 1 - - ./. 0 0 0 0 15 20 15 21 0 0 ./. 3 2 7 7 22 28 24 28 7 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712277913 7 112110592 TTGCGGGAAGGTTTGTTGTTTTGTTTTGTTCTAGATACTAGAGACAATTTATGGAGAAGGAACCTGTGGAGAAAGGAGCATCTGAAAATGTAGTCTGTTCTTAATATCCATGAGGCATTGGTTCCAGGATCCCCCTCAGATACCAAAATTTGAGTATTCAAGTCCCTGATATAAAATGGCATAGTATTTGCATATAACCTATGCACGTATACTTTAAATCATCTGTAGATTACTTATAATACCTAATACAATGTAAGTGCTATGTAAATAGTTGTTATACTTTATTGTTTAGGGAATAGTGGAAAGAAAGAATAGTCTATACATGTTCAGTATAGTTGCAATTTTTTTCTGAATATTTTCAGTCCATGGTTGGTTGAATCCGTGATGCAGAACCAACCAGATATGGAGGATTGACTATATATGTAAAAGATTGAGATTAACCTTGAATTGTGGAGGGACAGAGG T 319 PASS IFRD1 CCDS34736.1 r.? - - Del intronic D 112110592 112111057 463 42 593.964 - - 1 1 1 IFRD1|CCDS34736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IFRD1|CCDS34736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 5 0 0 12 18 18 23 6 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712278088 7 112672634 G GT 840 PASS - - - - - Ins - I 112672634 112672643 1 64 745.116 - - 8 1 1 - - ./. 0 0 0 0 9 19 10 19 0 0 ./. 7 7 12 11 36 46 36 48 12 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712278816 7 115419391 ATG A 1320 PASS - - - - - Del - D 115419391 115419397 2 135 1187.93 - - 2 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 14 8 16 12 34 25 34 25 16 12 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712279806 7 119396482 T TAC 749 PASS - - - - - Ins - I 119396482 119396500 2 50 683.895 - - 8 1 1 - - ./. 0 0 0 0 19 16 19 17 0 0 ./. 4 9 6 10 32 38 32 39 6 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712280390 7 121797041 TG T 480 PASS - - - - - Del - D 121797041 121797048 1 25 430.167 - - 6 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 4 7 5 18 17 18 17 7 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712281671 7 125775612 C CA 600 PASS - - - - - Ins - I 125775612 125775613 1 20 533.344 - - 0 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 9 1 10 2 32 19 32 19 10 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712282880 7 129439831 TG T 360 PASS - - - - - Del - D 129439831 129439834 1 15 320.97 - - 2 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 4 6 7 16 20 16 20 6 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712286768 7 141354211 TTTTA T 1163 PASS AGK CCDS5865.1 r.3017_3020delUUUA c.? p.? Del 3'UTR variant D 141354211 141354216 4 156 1241.92 - - 1 1 1 AGK|CCDS5865.1|r.3017_3020delUUUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 AGK|CCDS5865.1|r.3017_3020delUUUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 20 13 20 13 0 0 ./. 12 11 15 13 36 33 36 33 15 13 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712293760 8 3730896 T TA 660 PASS - - - - - Ins - I 3730896 3730906 1 42 580.229 - - 9 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 6 5 5 24 35 24 35 5 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712293788 8 3777378 A AT 660 PASS - - - - - Ins - I 3777378 3777385 1 42 588.055 - - 6 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 6 6 11 17 29 17 29 6 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712293955 8 4136995 G GT 807 PASS - - - - - Ins - I 4136995 4137002 1 72 802.715 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 7 8 8 10 35 30 35 31 8 10 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712299308 8 21423484 CTG C 300 PASS - - - - - Del - D 21423484 21423503 2 12 270.582 - - 9 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 3 3 3 23 21 23 21 3 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712303764 8 36980487 T TA 420 PASS - - - - - Ins - I 36980487 36980496 1 20 369.784 - - 8 1 1 - - ./. 0 0 0 0 16 12 17 12 0 0 ./. 3 4 4 5 39 39 40 39 4 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712304350 8 39298494 AT A 660 PASS - - - - - Del - D 39298494 39298499 1 40 594.678 - - 4 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 7 6 9 23 22 23 22 6 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712308701 8 58953941 TC T 480 PASS FAM110B CCDS6170.1 r.? - - Del intronic D 58953941 58953944 1 24 432.931 - - 2 1 1 FAM110B|CCDS6170.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM110B|CCDS6170.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 3 8 8 25 22 25 22 8 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712313569 8 79015311 A AT 420 PASS - - - - - Ins - I 79015311 79015318 1 20 373.998 - - 6 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 3 6 3 23 23 23 23 6 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712314485 8 82858674 C CTG 360 PASS - - - - - Ins - I 82858674 82858689 2 16 317.473 - - 7 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 6 3 28 23 30 23 6 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712314639 8 83431459 CTTTTTGCCTCTTTATTTCAATTCACCCTCCTTTTCCTTTATAAAAACACGTGTCA C 319 PASS - - - - - Del - D 83431459 83431517 55 36 595.28 - - 1 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 8 3 0 0 18 19 26 22 8 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712317299 8 94336032 CAG C 300 PASS - - - - - Del - D 94336032 94336036 2 10 270.582 - - 1 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 1 5 1 33 20 33 20 5 1 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712319083 8 100541012 TTTCA T 269 PASS VPS13B CCDS6280.1 r.? - - Del intronic D 100541012 100541021 4 12 270.582 - - 2 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 3 2 5 5 11 26 11 26 5 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712321307 8 108746063 C CT 780 PASS - - - - - Ins - I 108746063 108746065 1 50 695.686 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 9 4 11 9 20 27 20 28 11 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712324252 8 120091944 C CA 660 PASS COLEC10 CCDS6327.1 r.? - - Ins intronic I 120091944 120091952 1 30 580.229 - - 7 1 1 COLEC10|CCDS6327.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COLEC10|CCDS6327.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 10 8 0 0 ./. 9 2 15 5 38 14 38 14 15 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712328638 8 137214788 G GA 360 PASS - - - - - Ins - I 137214788 137214798 1 12 320.484 - - 9 1 1 - - ./. 0 0 0 0 8 11 9 12 0 0 ./. 1 5 3 5 19 32 19 32 3 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712330994 9 208556 ATATT A 509 PASS C9orf66 CCDS6439.1 r.? - - Del downstream D 208556 208561 4 28 479.606 - - 1 1 1 C9orf66|CCDS6439.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C9orf66|CCDS6439.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 6 5 7 17 24 17 24 5 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712334104 9 11700454 T TA 300 PASS - - - - - Ins - I 11700454 11700460 1 10 268.12 - - 5 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 4 1 5 1 16 10 16 10 5 1 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712337451 9 25436036 TATAATGACCAGA T 290 PASS - - - - - Del - D 25436036 25436050 12 35 542.261 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 6 4 6 4 18 17 18 17 6 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712337658 9 26258507 ATCT A 420 PASS - - - - - Del - D 26258507 26258516 3 20 378.981 - - 2 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 4 3 5 23 15 23 15 3 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712339214 9 31338855 ATTAT A 480 PASS - - - - - Del - D 31338855 31338867 4 25 433.809 - - 2 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 4 8 5 19 17 19 17 8 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712340919 9 37936272 CAG C 300 PASS SHB CCDS43806.1 r.? - - Del intronic D 37936272 37936276 2 10 271.13 - - 1 1 1 SHB|CCDS43806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHB|CCDS43806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 1 4 3 30 14 30 14 4 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712346172 9 76286712 A AT 509 PASS - - - - - Ins - I 76286712 76286721 1 30 482.616 - - 8 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 4 5 7 7 22 26 22 26 7 7 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712354182 9 109048841 GGA G 300 PASS - - - - - Del - D 109048841 109048857 2 12 271.13 - - 7 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 3 3 3 19 26 19 26 3 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712357007 9 119323844 CAG C 600 PASS ASTN2 CCDS48009.1 r.? - - Del intronic D 119323844 119323848 2 35 538.649 - - 1 1 1 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 4 10 4 28 13 28 13 10 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712357929 9 122924035 CAG C 480 PASS - - - - - Del - D 122924035 122924039 2 21 433.207 - - 1 1 1 - - ./. 0 0 0 0 3 10 3 10 0 0 ./. 6 2 7 3 20 12 20 12 7 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712360339 9 132812138 CTTTTT C 269 PASS GPR107 CCDS48041.1 r.? - - Del upstream D 132812138 132812146 5 10 271.13 - - 7 1 1 GPR107|CCDS48041.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 GPR107|CCDS48041.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 1 5 2 23 9 23 9 5 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712365572 X 14229231 A AT 480 PASS - - - - - Ins - I 14229231 14229241 1 24 426.161 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 5 3 8 5 24 39 25 39 8 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712366018 X 16302020 G GA 300 PASS - - - - - Ins - I 16302020 16302030 1 12 263.641 - - 9 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 2 5 4 37 30 37 30 5 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712368070 X 25542226 G GT 1260 PASS - - - - - Ins - I 25542226 25542234 1 132 1120.78 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 11 10 15 13 36 43 37 43 15 13 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712368897 X 29274124 GT G 720 PASS IL1RAPL1 CCDS14218.1 r.? - - Del intronic D 29274124 29274130 1 49 648.272 - - 5 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 6 6 7 9 21 23 21 23 7 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712369210 X 30561674 TG T 1227 PASS - - - - - Del - D 30561674 30561677 1 144 1188.8 - - 2 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 11 11 17 14 35 28 35 28 17 14 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712371091 X 39654588 GGGA G 440 PASS - - - - - Del - D 39654588 39654593 3 30 486.957 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 5 4 6 13 20 13 20 4 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712372268 X 44705894 GGT G 269 PASS DUSP21 CCDS14264.1 r.? - - Del downstream D 44705894 44705914 2 12 270.264 - - 9 1 - DUSP21|CCDS14264.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DUSP21|CCDS14264.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 2 3 18 32 18 32 2 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712373776 X 50884290 G GA 869 PASS - - - - - Ins - I 50884290 50884300 1 72 802.965 - - 9 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 7 8 8 11 32 35 32 35 8 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712374597 X 55549812 C CACACATATATGTATATATATGTATATATATACACATATGTGTGTGT 300 PASS - - - - - Ins - I 55549812 55549823 46 12 132.392 - - 0 1 - - - ./. 0 0 0 0 11 9 12 9 0 0 ./. 3 2 0 0 30 38 30 39 3 2 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712375309 X 61972388 CT C 840 PASS - - - - - Del - D 61972388 61972391 1 60 758.425 - - 2 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 9 5 10 9 35 27 35 27 10 9 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712379486 X 82001295 C CT 749 PASS - - - - - Ins - I 82001295 82001302 1 44 673.546 - - 6 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 10 5 11 29 36 30 36 5 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712379957 X 83924540 CAG C 300 PASS - - - - - Del - D 83924540 83924560 2 10 270.866 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 4 2 4 24 30 24 30 2 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712382698 X 95331972 GA G 840 PASS - - - - - Del - D 95331972 95331982 1 60 758.425 - - 9 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 9 5 9 6 33 35 33 35 9 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712385326 X 106948444 TAC T 269 PASS - - - - - Del - D 106948444 106948461 2 12 259.427 - - 8 1 - - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 3 2 3 27 33 27 33 2 3 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712385769 X 109177995 CT C 540 PASS - - - - - Del - D 109177995 109178005 1 30 486.957 - - 9 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 5 4 7 8 32 30 32 30 7 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712386186 X 111668126 A AT 989 PASS - - - - - Ins - I 111668126 111668133 1 90 904.689 - - 6 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 8 9 9 11 28 28 28 28 9 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712389731 X 125693528 TGA T 300 PASS - - - - - Del - D 125693528 125693544 2 6 269.06 - - 7 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 0 5 0 5 28 30 28 30 0 5 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712389996 X 126982143 G GT 420 PASS - - - - - Ins - I 126982143 126982153 1 20 368.375 - - 9 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 3 4 6 8 30 20 30 20 6 8 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712390712 X 130887413 C CA 360 PASS - - - - - Ins - I 130887413 130887422 1 16 319.621 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 3 9 6 20 41 20 42 9 6 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712394055 X 145803661 AT A 418 PASS - - - - - Del - D 145803661 145803664 1 35 533.303 - - 2 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 6 8 11 33 31 33 31 8 11 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712395241 X 151014179 C CAT 480 PASS - - - - - Ins - I 151014179 151014192 2 25 421.946 - - 6 1 1 - - ./. 0 0 0 0 17 9 18 9 0 0 ./. 4 4 7 3 42 29 42 29 7 4 1 1 1 1 1 1 1 1 2662677 PD17996a PD17996b 2712395441 X 152177879 T TA 600 PASS - - - - - Ins - I 152177879 152177888 1 36 533.905 - - 8 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 5 5 8 8 32 39 34 39 8 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713449031 1 50019807 AAC A 300 PASS AGBL4 CCDS44137.1 r.? - - Del intronic D 50019807 50019825 2 12 268.576 - - 8 1 1 AGBL4|CCDS44137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGBL4|CCDS44137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 2 3 2 34 24 34 24 3 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713451456 1 57637104 TTC T 300 PASS DAB1 CCDS607.1 r.? - - Del intronic D 57637104 57637107 2 12 268.576 - - 1 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 2 3 4 3 30 39 30 39 4 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713459869 1 82953447 G GT 660 PASS - - - - - Ins - I 82953447 82953455 1 36 564.979 - - 7 1 1 - - ./. 0 0 0 0 32 21 33 21 0 0 ./. 3 8 9 12 39 40 39 40 9 12 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713462639 1 91181683 GT G 300 PASS BARHL2 CCDS730.1 r.? - - Del intronic D 91181683 91181685 1 6 268.576 - - 1 1 1 BARHL2|CCDS730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BARHL2|CCDS730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 0 6 0 23 22 23 22 6 0 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713464399 1 95690963 CT C 614 PASS - - - - - Del - D 95690963 95690966 1 36 590.867 - - 2 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 8 7 12 29 32 29 32 7 12 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713464681 1 96587878 C CT 480 PASS - - - - - Ins - I 96587878 96587888 1 24 424.905 - - 9 1 1 - - ./. 0 0 0 0 22 27 24 27 0 0 ./. 3 5 8 10 34 41 35 41 8 10 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713471711 1 118321590 GA G 766 PASS - - - - - Del - D 118321590 118321592 1 72 805.728 - - 1 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 7 8 8 10 28 32 28 32 8 10 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713480006 1 156714123 GCT G 300 PASS HDGF CCDS44247.1 r.452_453delAG c.367_368delAG p.S123fs*6 Del frameshift D 156714123 156714128 2 12 267.974 - - 2 1 1 HDGF|CCDS44247.1|r.452_453delAG|c.367_368delAG|p.S123fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 HDGF|CCDS44247.1|r.452_453delAG|c.367_368delAG|p.S123fs*6|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 5 2 10 21 10 21 5 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713483060 1 166061347 CA C 1109 PASS FAM78B CCDS30931.1 r.? - - Del intronic D 166061347 166061349 1 108 1003.73 - - 1 1 1 FAM78B|CCDS30931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM78B|CCDS30931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 8 11 9 12 25 37 25 37 9 12 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713485233 1 172183911 A AT 696 PASS DNM3 CCDS44276.1 r.? - - Ins intronic I 172183911 172183920 1 49 637.358 - - 8 1 1 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 18 21 19 0 0 ./. 6 6 8 7 33 41 33 41 8 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713486935 1 177234687 CATCAT C 267 PASS FAM5B CCDS1320.1 r.? - - Del intronic D 177234687 177234700 5 15 321.689 - - 2 1 1 FAM5B|CCDS1320.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM5B|CCDS1320.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 18 25 18 0 0 ./. 2 4 3 4 27 26 27 26 3 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713491251 1 190320027 AC A 540 PASS FAM5C CCDS1373.1 r.? - - Del intronic D 190320027 190320029 1 28 483.437 - - 1 1 1 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 17 26 17 0 0 ./. 6 3 6 5 36 28 36 28 6 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713500154 1 216423955 CA C 1140 PASS USH2A CCDS31025.1 r.? - - Del intronic D 216423955 216423957 1 110 1020.59 - - 1 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 10 9 14 16 35 37 35 37 14 16 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713500195 1 216617510 G GT 300 PASS - - - - - Ins - I 216617510 216617520 1 12 265.566 - - 9 1 1 - - ./. 0 0 0 0 20 28 21 28 0 0 ./. 3 2 3 2 45 28 45 30 3 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713502098 1 222170760 CAAAAA C 269 PASS - - - - - Del - D 222170760 222170770 5 12 268.576 - - 9 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 2 3 3 27 34 27 34 3 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713506593 1 235457011 GGAAAGGGCCAA G 493 PASS ARID4B CCDS31061.1 r.? - - Del intronic D 235457011 235457023 11 60 912.556 - - 1 1 1 ARID4B|CCDS31061.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARID4B|CCDS31061.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 14 3 15 5 38 18 38 18 15 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713517763 10 12924052 AAAG A 598 PASS - - - - - Del - D 12924052 12924058 3 36 591.254 - - 1 1 1 - - ./. 0 0 0 0 18 22 18 22 0 0 ./. 3 8 4 12 22 31 22 31 4 12 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713520315 10 19389719 G GT 300 PASS ENSG00000234778 ENST00000455529 r.? - - Ins intronic I 19389719 19389729 1 10 265.687 - - 9 1 1 ENSG00000234778|ENST00000455529|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000234778|ENST00000455529|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 1 4 1 4 22 42 24 42 1 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713534553 10 59002728 TTTTG T 358 PASS - - - - - Del - D 59002728 59002748 4 20 375.815 - - 4 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 3 9 7 30 26 30 26 9 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713543238 10 83642157 ATG A 300 PASS NRG3 CCDS31233.1 r.? - - Del intronic D 83642157 83642173 2 10 269.299 - - 7 1 - NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 27 16 27 0 0 ./. 1 4 1 5 30 34 30 34 1 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713543745 10 85327614 GA G 540 PASS - - - - - Del - D 85327614 85327617 1 30 484.738 - - 2 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 5 11 8 29 24 29 24 11 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713551592 10 108601900 A AT 840 PASS SORCS1 CCDS7559.1 r.? - - Ins intronic I 108601900 108601909 1 48 745.608 - - 8 1 1 SORCS1|CCDS7559.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SORCS1|CCDS7559.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 26 15 27 0 0 ./. 3 11 4 15 16 40 17 40 4 15 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713554099 10 116646181 G GA 300 PASS FAM160B1 CCDS44480.1 r.? - - Ins intronic I 116646181 116646191 1 10 263.278 - - 9 1 1 FAM160B1|CCDS44480.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM160B1|CCDS44480.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 20 20 20 0 0 ./. 4 1 4 1 35 31 35 31 4 1 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713555784 10 121442499 T TA 300 PASS - - - - - Ins - I 121442499 121442506 1 10 263.278 - - 6 1 - - - ./. 0 0 0 0 23 22 23 22 0 0 ./. 1 4 2 4 28 38 29 38 2 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713569721 11 24822102 C CCA 300 PASS LUZP2 CCDS31446.1 r.? - - Ins intronic I 24822102 24822103 2 10 262.63 - - 0 1 - LUZP2|CCDS31446.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LUZP2|CCDS31446.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 4 1 0 0 37 24 39 25 4 1 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713589743 11 86026243 CGAGA C 480 PASS C11orf73 CCDS8275.1 r.? - - Del intronic D 86026243 86026254 4 21 431.767 - - 5 1 1 C11orf73|CCDS8275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C11orf73|CCDS8275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 6 2 9 3 24 22 24 22 9 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713591343 11 90269966 AT A 720 PASS - - - - - Del - D 90269966 90269976 1 49 647.65 - - 9 1 1 - - ./. 0 0 0 0 25 13 25 13 0 0 ./. 6 6 8 8 46 48 46 48 8 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713593225 11 95880655 A AT 300 PASS MAML2 CCDS44714.1 r.? - - Ins intronic I 95880655 95880663 1 12 266.844 - - 7 1 1 MAML2|CCDS44714.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAML2|CCDS44714.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 24 18 24 0 0 ./. 3 2 5 2 27 26 28 26 5 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713593336 11 96191657 TGA T 300 PASS - - - - - Del - D 96191657 96191674 2 6 264.436 - - 8 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 0 5 0 6 39 35 39 35 0 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713604814 11 127964600 TA T 900 PASS - - - - - Del - D 127964600 127964602 1 72 807.757 - - 1 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 8 7 11 11 26 29 26 29 11 11 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713608387 12 3790098 CAG C 300 PASS EFCAB4B CCDS44803.1 r.? - - Del intronic D 3790098 3790114 2 10 269.336 - - 7 1 1 EFCAB4B|CCDS44803.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EFCAB4B|CCDS44803.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 1 4 1 4 24 25 24 25 1 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713608462 12 3983133 CT C 360 PASS PARP11 CCDS8523.2 r.? - - Del upstream D 3983133 3983135 1 15 323.925 - - 1 1 1 PARP11|CCDS8523.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PARP11|CCDS8523.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 21 11 21 11 0 0 ./. 2 4 2 4 32 25 32 25 2 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713610187 12 8346254 ATG A 268 PASS ENSG00000226711 ENST00000456135 r.? - - Del intronic D 8346254 8346270 2 10 263.917 - - 7 1 1 ENSG00000226711|ENST00000456135|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000226711|ENST00000456135|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 25 27 25 0 0 ./. 4 1 3 1 30 31 30 31 4 1 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713617029 12 25700570 G GA 300 PASS IFLTD1 CCDS44849.1 r.? - - Ins intronic I 25700570 25700580 1 12 266.928 - - 9 1 1 IFLTD1|CCDS44849.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IFLTD1|CCDS44849.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 2 3 2 3 41 32 41 33 2 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713632952 12 74141231 CTATT C 387 PASS - - - - - Del - D 74141231 74141238 4 21 431.901 - - 1 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 2 6 3 6 20 44 20 44 3 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713635751 12 82878285 G GA 1289 PASS - - - - - Ins - I 82878285 82878292 1 140 1171.47 - - 6 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 13 9 13 10 27 31 27 31 13 10 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713640792 12 97819918 TTC T 300 PASS - - - - - Del - D 97819918 97819937 2 12 267.53 - - 9 1 - - - ./. 0 0 0 0 25 11 25 11 0 0 ./. 3 2 5 3 43 39 43 39 5 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713647419 12 117988038 TC T 840 PASS KSR2 ENST00000425217 r.? - - Del intronic D 117988038 117988040 1 60 755.826 - - 1 1 1 KSR2|ENST00000425217|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KSR2|ENST00000425217|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 20 15 20 0 0 ./. 9 5 14 7 42 34 42 34 14 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713652457 12 130316386 A AT 389 PASS TMEM132D CCDS9266.1 r.? - - Ins intronic I 130316386 130316396 1 14 364.668 - - 9 1 - TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 27 9 27 0 0 ./. 1 6 6 12 26 52 26 52 6 12 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713664455 13 45100499 T TA 300 PASS TSC22D1 CCDS31966.1 r.? - - Ins intronic I 45100499 45100509 1 12 262.013 - - 9 1 1 TSC22D1|CCDS31966.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TSC22D1|CCDS31966.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 3 2 3 2 37 30 37 30 3 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713665125 13 47049123 AC A 600 PASS - - - - - Del - D 47049123 47049125 1 32 540.884 - - 1 1 1 - - ./. 0 0 0 0 22 6 22 6 0 0 ./. 7 3 7 5 26 18 26 18 7 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713674298 13 72702998 CTCTT C 749 PASS - - - - - Del - D 72702998 72703003 4 56 702.548 - - 1 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 7 6 10 9 30 30 30 30 10 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713679939 13 89173604 C CT 480 PASS - - - - - Ins - I 89173604 89173612 1 25 427.891 - - 7 1 1 - - ./. 0 0 0 0 16 24 16 24 0 0 ./. 4 4 5 4 39 34 39 34 5 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713680173 13 89946247 AAAAC A 323 PASS - - - - - Del - D 89946247 89946255 4 28 483.183 - - 1 1 1 - - ./. 0 0 0 0 25 22 25 22 0 0 ./. 3 6 5 7 29 21 29 21 5 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713688418 13 112111596 GA G 809 PASS - - - - - Del - D 112111596 112111599 1 60 757.238 - - 2 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 9 7 12 21 30 21 30 7 12 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713692500 14 27808863 CCT C 420 PASS - - - - - Del - D 27808863 27808882 2 18 379.037 - - 9 1 1 - - ./. 0 0 0 0 25 15 25 15 0 0 ./. 2 5 2 5 32 35 32 35 2 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713693011 14 29240133 AAG A 269 PASS FOXG1 CCDS9636.1 r.? - - Del downstream D 29240133 29240148 2 12 262.914 - - 7 1 - FOXG1|CCDS9636.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C14orf23|ENST00000399387|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 20 12 20 0 0 ./. 2 3 1 3 35 45 35 45 2 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713699974 14 48526003 AAG A 300 PASS - - - - - Del - D 48526003 48526007 2 6 269.536 - - 1 1 - - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 0 3 0 41 23 41 23 6 0 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713710217 14 76527973 A AT 1020 PASS C14orf179 CCDS9847.1 r.? - - Ins intronic I 76527973 76527981 1 78 909.079 - - 7 1 1 C14orf179|CCDS9847.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C14orf179|CCDS9847.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 17 22 17 0 0 ./. 12 5 16 8 45 34 46 34 16 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713713135 14 84985449 A AT 300 PASS - - - - - Ins - I 84985449 84985459 1 12 260.505 - - 9 1 1 - - ./. 0 0 0 0 17 28 17 28 0 0 ./. 3 2 4 2 42 37 43 37 4 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713714250 14 87901062 G GA 840 PASS - - - - - Ins - I 87901062 87901070 1 63 749.043 - - 7 1 1 - - ./. 0 0 0 0 19 25 19 25 0 0 ./. 8 6 9 9 32 37 32 37 9 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713717966 14 98477355 A AT 298 PASS - - - - - Ins - I 98477355 98477365 1 15 309.235 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 13 0 0 ./. 2 4 3 6 29 38 29 40 3 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713718600 14 100534421 AT A 300 PASS EVL CCDS9955.1 r.? - - Del intronic D 100534421 100534423 1 12 267.128 - - 1 1 1 EVL|CCDS9955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EVL|CCDS9955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 6 4 22 17 22 17 6 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713725900 15 32236484 CA C 600 PASS - - - - - Del - D 32236484 32236488 1 35 541.28 - - 3 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 6 4 8 4 35 27 35 27 8 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713727322 15 35610194 G GA 300 PASS - - - - - Ins - I 35610194 35610204 1 10 267.931 - - 9 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 1 4 1 4 30 45 30 47 1 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713731833 15 48905686 CAT C 300 PASS FBN1 CCDS32232.1 r.? - - Del intronic D 48905686 48905703 2 10 270.339 - - 8 1 1 FBN1|CCDS32232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBN1|CCDS32232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 22 16 22 0 0 ./. 1 4 1 4 32 31 32 31 1 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713736502 15 60865647 ATAAT A 478 PASS RORA CCDS10177.1 r.? - - Del intronic D 60865647 60865655 4 28 484.684 - - 1 1 1 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RORA|CCDS10177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 3 6 3 7 25 25 25 25 3 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713747527 15 93444560 C CT 300 PASS CHD2 CCDS10374.2 r.? - - Ins intronic I 93444560 93444570 1 12 264.921 - - 9 1 1 CHD2|CCDS10374.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHD2|CCDS10374.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 21 26 21 0 0 ./. 3 2 4 2 29 27 29 27 4 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713756836 16 14610436 CTCAAAGAAAGAACATTTGAA C 348 PASS PARN CCDS45419.1 r.? - - Del intronic D 14610436 14610461 20 40 649.524 - - 1 1 1 PARN|CCDS45419.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARN|CCDS45419.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 18 21 18 0 0 ./. 3 9 3 8 20 28 20 28 3 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713757271 16 15949669 AC A 1140 PASS MYH11 CCDS45424.1 r.? - - Del intronic D 15949669 15949671 1 110 1023.6 - - 1 1 1 MYH11|CCDS45424.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MYH11|CCDS45424.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 9 10 10 15 27 33 27 33 10 15 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713760249 16 24383094 C CA 300 PASS - - - - - Ins - I 24383094 24383104 1 10 267.625 - - 9 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 1 4 1 4 30 36 30 37 1 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713772675 16 64944567 C CA 420 PASS - - - - - Ins - I 64944567 64944575 1 18 374.073 - - 7 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 2 5 3 6 28 29 28 29 3 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713773688 16 68531767 ACT A 869 PASS - - - - - Del - D 68531767 68531770 2 42 805.282 - - 1 1 1 - - ./. 0 0 0 0 22 19 22 19 0 0 ./. 13 2 17 4 32 14 32 14 17 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713787671 17 13597334 AT A 1140 PASS - - - - - Del - D 13597334 13597342 1 108 1028.83 - - 7 1 1 - - ./. 0 0 0 0 28 21 28 21 0 0 ./. 11 8 12 14 38 44 38 44 12 14 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713796517 17 38989269 AACTCTT A 551 PASS TMEM99 CCDS42319.1 r.? - - Del intronic D 38989269 38989276 6 110 1028.83 - - 1 1 1 TMEM99|CCDS42319.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TMEM99|CCDS42319.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 9 10 9 16 20 35 20 36 9 17 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713800499 17 49075383 ATTTTTTTTTTTTTTT A 261 PASS SPAG9 CCDS45740.1 r.? - - Del intronic D 49075383 49075413 15 18 484.933 - - 1 1 - SPAG9|CCDS45740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG9|CCDS45740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 29 19 29 0 0 ./. 1 8 2 8 12 43 12 43 2 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713814964 18 4443868 T TA 900 PASS - - - - - Ins - I 4443868 4443871 1 70 803.48 - - 2 1 1 - - ./. 0 0 0 0 16 25 16 25 0 0 ./. 9 6 11 8 39 35 40 35 11 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713816371 18 8649210 G GA 492 PASS - - - - - Ins - I 8649210 8649219 1 30 482.088 - - 8 1 - - - ./. 0 0 0 0 14 21 14 22 0 0 ./. 5 4 9 8 34 28 34 28 9 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713816401 18 8718952 A AT 389 PASS KIAA0802 CCDS11841.1 r.? - - Ins intronic I 8718952 8718961 1 20 372.549 - - 8 1 1 KIAA0802|CCDS11841.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA0802|CCDS11841.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 29 21 29 0 0 ./. 3 4 6 4 39 46 39 47 6 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713818815 18 14852496 A AAT 389 PASS ENSG00000180777 ENST00000320584 r.4376_4377insau c.? p.? Ins 3'UTR variant I 14852496 14852512 2 18 370.743 - - 7 1 1 ENSG00000180777|ENST00000320584|r.4376_4377insau|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ENSG00000180777|ENST00000320584|r.4376_4377insau|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 22 17 22 17 0 0 ./. 2 5 4 7 41 23 45 23 4 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713829970 18 50419596 G GA 660 PASS DCC CCDS11952.1 r.? - - Ins intronic I 50419596 50419605 1 40 583.8 - - 8 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 7 4 8 6 36 33 36 34 8 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713831708 18 55239831 GT G 300 PASS FECH CCDS11964.1 r.? - - Del intronic D 55239831 55239833 1 6 268.429 - - 1 1 - FECH|CCDS11964.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FECH|CCDS11964.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 0 11 0 33 16 33 16 11 0 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713833000 18 58191110 A AT 385 PASS - - - - - Ins - I 58191110 58191118 1 28 482.088 - - 7 1 1 - - ./. 0 0 0 0 17 21 17 23 0 0 ./. 3 6 8 10 37 40 37 40 8 10 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713844878 19 10504776 AAAC A 629 PASS MIR1181 CCDS12237.1 r.? - - Del intronic D 10504776 10504791 3 42 594.149 - - 4 1 1 MIR1181|CCDS12237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR1181|CCDS12237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 6 5 11 5 31 21 31 21 11 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713849237 19 20374630 TA T 1049 PASS ZNF90 ENST00000427401 r.? - - Del intronic D 20374630 20374637 1 99 971.368 - - 6 1 1 ZNF90|ENST00000427401|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ZNF90|ENST00000427401|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 16 27 16 0 0 ./. 8 10 10 12 32 29 32 29 10 12 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713859476 19 48035966 CAT C 300 PASS ZNF541 CCDS46133.1 r.? - - Del intronic D 48035966 48035983 2 12 271.162 - - 8 1 1 ZNF541|CCDS46133.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF541|CCDS46133.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 2 3 2 22 26 22 26 3 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713860848 19 51188588 TC T 480 PASS SHANK1 CCDS12799.1 r.? - - Del intronic D 51188588 51188595 1 24 429.044 - - 6 1 1 SHANK1|CCDS12799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHANK1|CCDS12799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 23 22 23 0 0 ./. 3 5 3 6 21 27 21 27 3 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713872971 2 25981554 T TG 480 PASS ASXL2 ENST00000435504 r.? - - Ins intronic I 25981554 25981555 1 25 422.678 - - 0 1 1 ASXL2|ENST00000435504|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASXL2|ENST00000435504|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 24 14 24 0 0 ./. 4 4 4 4 24 32 25 32 4 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713874952 2 31481698 GA G 1049 PASS EHD3 CCDS1774.1 r.? - - Del intronic D 31481698 31481702 1 99 966.679 - - 3 1 1 EHD3|CCDS1774.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EHD3|CCDS1774.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 7 24 7 0 0 ./. 8 10 15 13 32 24 32 24 15 13 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713876981 2 36945973 C CA 660 PASS VIT CCDS33180.1 r.? - - Ins intronic I 36945973 36945981 1 42 584.494 - - 7 1 1 VIT|CCDS33180.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VIT|CCDS33180.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 18 24 18 0 0 ./. 6 5 7 5 25 21 25 22 7 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713883253 2 55116299 CAT C 360 PASS EML6 CCDS46286.1 r.? - - Del intronic D 55116299 55116303 2 15 322.427 - - 1 1 1 EML6|CCDS46286.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EML6|CCDS46286.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 21 24 21 0 0 ./. 4 2 4 2 23 32 23 32 4 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713883380 2 55425734 C CA 540 PASS C2orf63 CCDS33201.1 r.? - - Ins intronic I 55425734 55425743 1 30 467.987 - - 8 1 1 C2orf63|CCDS33201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C2orf63|CCDS33201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 26 20 26 0 0 ./. 5 4 8 6 33 30 33 30 8 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713885638 2 62346610 C CA 540 PASS COMMD1 CCDS1869.1 r.? - - Ins intronic I 62346610 62346618 1 30 477.018 - - 7 1 1 COMMD1|CCDS1869.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COMMD1|CCDS1869.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 20 25 20 0 0 ./. 4 5 10 9 31 31 31 31 10 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713906888 2 131498080 C CA 420 PASS - - - - - Ins - I 131498080 131498089 1 20 371.951 - - 8 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 4 3 10 7 36 38 36 39 10 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713909656 2 137865449 T TA 478 PASS THSD7B ENST00000409968 r.? - - Ins intronic I 137865449 137865456 1 28 478.222 - - 6 1 1 THSD7B|ENST00000409968|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 THSD7B|ENST00000409968|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 16 23 16 0 0 ./. 6 3 8 4 29 23 30 24 8 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713919669 2 168035259 C CT 720 PASS XIRP2 CCDS42769.1 r.? - - Ins intronic I 168035259 168035267 1 48 636.425 - - 7 1 1 XIRP2|CCDS42769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XIRP2|CCDS42769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 24 15 24 0 0 ./. 7 5 8 5 34 37 35 38 8 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713920120 2 169422241 A AT 1169 PASS LASS6 CCDS2228.1 r.? - - Ins intronic I 169422241 169422250 1 117 1059.71 - - 8 1 1 LASS6|CCDS2228.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LASS6|CCDS2228.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 23 22 23 0 0 ./. 12 8 13 8 36 31 37 31 13 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713922677 2 175910825 C CT 600 PASS - - - - - Ins - I 175910825 175910834 1 36 531.358 - - 8 1 - - - ./. 0 0 0 0 15 28 15 28 0 0 ./. 5 5 7 12 25 46 26 46 7 13 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713945282 2 241930031 ACT A 300 PASS ENSG00000226321 ENST00000443866 r.? - - Del intronic D 241930031 241930036 2 10 257.852 - - 2 1 1 ENSG00000226321|ENST00000443866|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000226321|ENST00000443866|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 11 26 11 0 0 ./. 4 1 5 2 33 24 33 24 5 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713960047 20 41976268 C CA 480 PASS - - - - - Ins - I 41976268 41976276 1 24 428.375 - - 7 1 1 - - ./. 0 0 0 0 18 26 18 26 0 0 ./. 5 3 13 7 30 33 30 33 13 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713960884 20 44466896 C CT 418 PASS SNX21 CCDS13377.1 r.? - - Ins intronic I 44466896 44466905 1 24 406.098 - - 8 1 1 SNX21|CCDS13377.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNX21|CCDS13377.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 3 7 4 23 17 23 17 7 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2713981332 21 38821463 T TA 929 PASS DYRK1A CCDS13653.1 r.? - - Ins intronic I 38821463 38821465 1 77 858.235 - - 1 1 1 DYRK1A|CCDS13653.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DYRK1A|CCDS13653.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 6 10 9 13 25 33 25 34 9 13 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714003780 3 15689826 GAGAC G 507 PASS BTD CCDS2628.1 r.? - - Del downstream D 15689826 15689832 4 35 538.018 - - 1 1 1 BTD|CCDS2628.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 BTD|CCDS2628.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 27 20 27 20 0 0 ./. 6 4 12 16 33 22 33 22 12 16 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714007376 3 26076435 G GA 600 PASS - - - - - Ins - I 26076435 26076444 1 35 531.998 - - 8 1 1 - - ./. 0 0 0 0 19 32 20 32 0 0 ./. 6 4 6 4 30 38 32 38 6 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714011396 3 37857203 CA C 300 PASS ITGA9 CCDS2669.1 r.? - - Del intronic D 37857203 37857212 1 10 269.009 - - 8 1 1 ITGA9|CCDS2669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGA9|CCDS2669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 23 20 23 0 0 ./. 4 1 4 1 38 35 38 35 4 1 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714017417 3 56421186 TAATA T 509 PASS ERC2 CCDS46851.1 r.? - - Del intronic D 56421186 56421199 4 30 484.216 - - 3 1 1 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 28 28 28 0 0 ./. 5 4 6 7 28 42 28 42 6 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714019234 3 60963945 TA T 300 PASS FHIT CCDS2894.1 r.? - - Del intronic D 60963945 60963950 1 6 269.009 - - 4 1 1 FHIT|CCDS2894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FHIT|CCDS2894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 25 24 25 0 0 ./. 0 5 3 5 20 33 20 33 3 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714022253 3 69853162 CT C 600 PASS MITF CCDS43106.1 r.? - - Del intronic D 69853162 69853164 1 35 537.416 - - 1 1 1 MITF|CCDS43106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MITF|CCDS43106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 6 4 7 5 33 27 33 27 7 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714026874 3 79585196 C CA 300 PASS ROBO1 ENST00000464233 r.? - - Ins intronic I 79585196 79585203 1 12 265.397 - - 6 1 1 ROBO1|ENST00000464233|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROBO1|ENST00000464233|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 25 22 25 0 0 ./. 2 3 3 3 40 37 40 37 3 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714027864 3 82521416 GC G 869 PASS - - - - - Del - D 82521416 82521421 1 70 806.425 - - 4 1 1 - - ./. 0 0 0 0 22 25 22 25 0 0 ./. 6 9 10 14 30 38 30 38 10 14 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714052158 3 156220541 G GTA 780 PASS KCNAB1 CCDS33882.1 r.? - - Ins intronic I 156220541 156220544 2 56 683.77 - - 1 1 1 KCNAB1|CCDS33882.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNAB1|CCDS33882.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 7 9 9 44 32 44 32 9 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714075954 4 24189701 CA C 840 PASS - - - - - Del - D 24189701 24189703 1 55 753.01 - - 1 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 4 10 6 11 31 38 31 38 6 11 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714078525 4 31256448 T TA 780 PASS - - - - - Ins - I 31256448 31256456 1 54 686.58 - - 7 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 5 8 11 11 49 30 50 30 11 11 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714080313 4 36179303 ATCACTATTTCTTTGGTATATTTAG A 580 PASS ARAP2 CCDS3441.1 r.? - - Del intronic D 36179303 36179329 24 117 1075.73 - - 1 1 1 ARAP2|CCDS3441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARAP2|CCDS3441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 24 22 24 0 0 ./. 8 12 7 9 27 28 28 31 8 12 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714081610 4 39499707 T TTC 509 PASS UGDH CCDS3455.1 r.? - - Ins downstream I 39499707 39499709 2 28 472.037 - - 0 1 1 UGDH|CCDS3455.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 UGDH|CCDS3455.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 19 23 19 23 0 0 ./. 6 3 6 3 36 34 36 34 6 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714091376 4 65761825 CT C 360 PASS - - - - - Del - D 65761825 65761828 1 15 322.117 - - 2 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 4 6 9 29 37 29 37 6 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714091909 4 67236006 C CT 1140 PASS - - - - - Ins - I 67236006 67236016 1 104 1002.68 - - 9 1 1 - - ./. 0 0 0 0 15 30 15 30 0 0 ./. 12 7 19 11 39 42 39 42 19 11 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714108323 4 117421263 A AT 300 PASS - - - - - Ins - I 117421263 117421271 1 10 265.922 - - 7 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 1 5 3 30 19 31 19 5 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714109048 4 119472173 C CA 285 PASS - - - - - Ins - I 119472173 119472180 1 28 478.659 - - 6 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 6 3 8 7 18 33 18 33 8 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714115119 4 136522496 CA C 480 PASS - - - - - Del - D 136522496 136522498 1 25 430.291 - - 1 1 1 - - ./. 0 0 0 0 28 24 28 24 0 0 ./. 4 4 7 9 31 31 31 31 7 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714116986 4 142026049 GTC G 360 PASS RNF150 ENST00000306799 r.? - - Del intronic D 142026049 142026065 2 16 322.719 - - 7 1 1 RNF150|ENST00000306799|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF150|ENST00000306799|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 3 4 4 34 38 34 38 4 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714128044 4 173344876 ATC A 780 PASS GALNTL6 CCDS34104.1 r.? - - Del intronic D 173344876 173344882 2 44 699.224 - - 2 1 1 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 10 3 10 6 44 29 44 29 10 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714128995 4 175899449 CTTG C 300 PASS ADAM29 CCDS3823.1 r.? - - Del downstream D 175899449 175899457 3 10 264.116 - - 2 1 1 ADAM29|CCDS3823.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ADAM29|CCDS3823.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 30 15 30 15 0 0 ./. 4 1 6 1 38 19 38 19 6 1 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714129855 4 178138446 C CT 720 PASS - - - - - Ins - I 178138446 178138450 1 48 637.61 - - 3 1 1 - - ./. 0 0 0 0 23 23 23 24 0 0 ./. 7 5 9 7 25 20 25 20 9 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714139430 5 7855444 GA G 1020 PASS FASTKD3 CCDS3873.1 r.? - - Del downstream D 7855444 7855452 1 88 916.036 - - 7 1 1 FASTKD3|CCDS3873.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C5orf49|CCDS43300.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 23 17 23 0 0 ./. 10 7 10 14 28 35 28 35 10 14 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714140484 5 10716387 ACTTTTCAGG A 539 PASS DAP CCDS3880.1 r.? - - Del intronic D 10716387 10716397 9 98 1023.81 - - 1 1 1 DAP|CCDS3880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAP|CCDS3880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 22 19 22 0 0 ./. 6 13 7 14 29 48 29 48 7 14 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714151169 5 39320036 ACCCAAGGACTC A 435 PASS C9 CCDS3929.1 r.? - - Del intronic D 39320036 39320049 11 72 807.665 - - 1 1 1 C9|CCDS3929.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9|CCDS3929.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 7 8 8 9 17 26 17 26 8 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714165703 5 86840233 AT A 360 PASS - - - - - Del - D 86840233 86840235 1 16 323.307 - - 1 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 3 3 3 3 44 30 44 30 3 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714165722 5 86941106 A AT 660 PASS - - - - - Ins - I 86941106 86941115 1 40 577.076 - - 8 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 4 7 4 11 29 40 29 40 4 11 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714175392 5 117315020 AT A 1138 PASS - - - - - Del - D 117315020 117315024 1 105 1077.09 - - 3 1 1 - - ./. 0 0 0 0 19 26 19 26 0 0 ./. 6 14 10 17 32 44 32 44 10 17 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714175562 5 117804276 C CA 360 PASS ENSG00000232769 ENST00000428465 r.? - - Ins intronic I 117804276 117804283 1 15 319.093 - - 6 1 1 ENSG00000232769|ENST00000428465|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000232769|ENST00000428465|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 4 2 7 5 31 25 31 26 7 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714178645 5 127115386 C CT 480 PASS - - - - - Ins - I 127115386 127115393 1 25 426.26 - - 6 1 1 - - ./. 0 0 0 0 19 24 19 24 0 0 ./. 4 4 7 4 26 19 26 19 7 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714178783 5 127675328 CAACT C 327 PASS FBN2 CCDS34222.1 r.? - - Del intronic D 127675328 127675333 4 18 376.589 - - 1 1 1 FBN2|CCDS34222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBN2|CCDS34222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 5 2 6 2 35 28 35 28 6 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714179652 5 130572900 GAA G 780 PASS - - - - - Del - D 130572900 130572904 2 56 699.896 - - 3 1 1 - - ./. 0 0 0 0 15 24 15 24 0 0 ./. 7 6 12 10 40 29 40 29 12 10 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714179953 5 131337120 CCTCTTGGGTTTTA C 406 PASS ACSL6 CCDS34229.1 r.? - - Del intronic D 131337120 131337134 13 60 753.179 - - 1 1 1 ACSL6|CCDS34229.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACSL6|CCDS34229.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 9 5 8 5 28 24 29 24 9 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714183081 5 141544269 CT C 540 PASS - - - - - Del - D 141544269 141544271 1 30 484.961 - - 1 1 1 - - ./. 0 0 0 0 18 22 18 22 0 0 ./. 4 5 8 5 24 18 24 18 8 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714183857 5 144331862 A AG 660 PASS - - - - - Ins - I 144331862 144331863 1 40 586.107 - - 0 1 1 - - ./. 0 0 0 0 14 23 14 23 0 0 ./. 4 7 4 11 31 39 31 39 4 11 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714189597 5 162174142 C CAT 509 PASS - - - - - Ins - I 162174142 162174154 2 28 474.123 - - 5 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 6 4 8 28 39 28 39 4 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714189996 5 163224445 A AT 689 PASS - - - - - Ins - I 163224445 163224453 1 48 636.379 - - 7 1 1 - - ./. 0 0 0 0 19 24 19 24 0 0 ./. 5 7 11 12 36 36 36 37 11 12 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714192045 5 169396448 C CA 540 PASS DOCK2 CCDS4371.1 r.? - - Ins intronic I 169396448 169396455 1 30 478.338 - - 6 1 1 DOCK2|CCDS4371.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK2|CCDS4371.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 23 11 23 0 0 ./. 4 5 6 11 28 29 29 29 6 11 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714194377 5 176060619 GC G 840 PASS EIF4E1B CCDS47345.1 r.? - - Del intronic D 176060619 176060623 1 60 753.179 - - 3 1 1 EIF4E1B|CCDS47345.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 EIF4E1B|CCDS47345.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 26 18 26 0 0 ./. 5 9 8 11 26 37 26 37 8 11 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714201944 6 14915677 AG A 269 PASS - - - - - Del - D 14915677 14915679 1 12 262.116 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 2 3 2 22 10 22 10 3 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714212956 6 42413017 A AC 300 PASS TRERF1 CCDS4867.1 r.? - - Ins intronic I 42413017 42413018 1 12 265.127 - - 0 1 1 TRERF1|CCDS4867.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TRERF1|CCDS4867.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 2 3 3 16 26 16 26 3 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714214296 6 46134098 ATAGCTCACTG A 377 PASS ENPP5 CCDS4915.1 r.? - - Del intronic D 46134098 46134111 10 56 698.48 - - 1 1 1 ENPP5|CCDS4915.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENPP5|CCDS4915.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 6 7 6 7 29 27 29 27 6 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714217795 6 56621889 G GA 300 PASS DST CCDS47441.1 r.? - - Ins intronic I 56621889 56621899 1 12 265.127 - - 9 1 1 DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 32 13 32 0 0 ./. 3 2 3 2 29 38 29 39 3 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714229868 6 91480141 T TG 420 PASS - - - - - Ins - I 91480141 91480149 1 18 372.863 - - 7 1 1 - - ./. 0 0 0 0 11 19 11 20 0 0 ./. 5 2 6 2 35 25 36 25 6 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714230922 6 94832046 C CT 300 PASS - - - - - Ins - I 94832046 94832056 1 10 263.922 - - 9 1 1 - - ./. 0 0 0 0 25 14 25 14 0 0 ./. 4 1 4 1 52 42 52 42 4 1 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714231568 6 97167137 AG A 1020 PASS - - - - - Del - D 97167137 97167140 1 90 915.759 - - 2 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 9 8 10 14 34 31 34 31 10 14 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714231947 6 98282252 GA G 600 PASS - - - - - Del - D 98282252 98282262 1 35 538.08 - - 9 1 1 - - ./. 0 0 0 0 22 23 22 23 0 0 ./. 6 4 8 8 42 26 42 26 8 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714232551 6 100000028 G GA 300 PASS CCNC CCDS34502.1 r.? - - Ins intronic I 100000028 100000038 1 12 265.729 - - 9 1 1 CCNC|CCDS34502.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCNC|CCDS34502.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 2 3 3 6 20 38 20 38 3 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714235074 6 107162246 G GA 540 PASS - - - - - Ins - I 107162246 107162254 1 28 471.568 - - 7 1 1 - - ./. 0 0 0 0 14 21 14 22 0 0 ./. 6 3 12 3 30 27 30 27 12 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714235823 6 109244810 CT C 269 PASS ARMC2 CCDS5069.2 r.? - - Del intronic D 109244810 109244812 1 6 260.912 - - 1 1 1 ARMC2|CCDS5069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARMC2|CCDS5069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 0 5 0 10 25 23 25 23 0 10 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714238175 6 117053938 C CA 720 PASS KPNA5 CCDS5111.1 r.2220_2221insa c.? p.? Ins 3'UTR variant I 117053938 117053945 1 48 639.193 - - 6 1 1 KPNA5|CCDS5111.1|r.2220_2221insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 KPNA5|CCDS5111.1|r.2220_2221insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 18 21 18 21 0 0 ./. 7 5 11 7 40 31 41 32 11 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714238935 6 119351743 GATCAACTGAT G 261 PASS FAM184A CCDS43500.1 r.? - - Del intronic D 119351743 119351754 10 30 484.814 - - 1 1 1 FAM184A|CCDS43500.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM184A|CCDS43500.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 22 26 22 0 0 ./. 4 5 5 5 31 25 31 25 5 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714250129 6 153778001 G GA 960 PASS - - - - - Ins - I 153778001 153778007 1 77 845.033 - - 5 1 1 - - ./. 0 0 0 0 25 16 25 16 0 0 ./. 10 6 13 8 28 37 28 37 13 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714252633 6 160797090 C CA 840 PASS SLC22A3 CCDS5277.1 r.? - - Ins intronic I 160797090 160797098 1 63 745.726 - - 7 1 1 SLC22A3|CCDS5277.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC22A3|CCDS5277.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 23 22 23 0 0 ./. 8 6 11 10 34 40 35 40 11 10 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714255459 6 168442049 GT G 600 PASS KIF25 CCDS5305.1 r.? - - Del intronic D 168442049 168442053 1 36 533.865 - - 3 1 1 KIF25|CCDS5305.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF25|CCDS5305.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 5 5 7 6 25 21 25 21 7 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714265688 7 24167069 AACTATTGC A 348 PASS - - - - - Del - D 24167069 24167080 8 48 646.397 - - 1 1 1 - - ./. 0 0 0 0 20 22 20 22 0 0 ./. 5 7 7 9 28 33 28 33 7 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714266197 7 25589136 CTG C 540 PASS - - - - - Del - D 25589136 25589140 2 28 484.798 - - 1 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 6 3 8 4 38 37 38 37 8 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714269553 7 34989522 TAA T 420 PASS DPY19L1 CCDS43567.1 r.? - - Del intronic D 34989522 34989526 2 14 376.463 - - 3 1 1 DPY19L1|CCDS43567.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPY19L1|CCDS43567.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 30 15 30 0 0 ./. 1 6 2 8 34 37 34 37 2 8 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714276165 7 53226558 GATAC G 256 PASS - - - - - Del - D 53226558 53226566 4 35 538.664 - - 1 1 1 - - ./. 0 0 0 0 25 55 25 55 0 0 ./. 4 6 4 6 47 95 47 95 4 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714277926 7 57595107 G GA 1229 PASS - - - - - Ins - I 57595107 57595114 1 132 1109.52 - - 6 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 10 11 11 14 29 43 30 43 12 14 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714278997 7 61788601 G GAATGGAATCATCATCGAATGGAATCT 290 PASS - - - - - Ins - I 61788601 61788616 26 32 381.526 - - 0 1 1 - - ./. 0 0 0 0 38 42 39 42 0 0 ./. 3 7 0 0 92 85 94 85 3 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714283961 7 71368957 G GGACATGCAAA 348 PASS CALN1 CCDS47603.1 r.? - - Ins intronic I 71368957 71368968 10 48 574.15 - - 1 1 1 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 17 19 0 0 ./. 7 5 7 3 43 43 43 45 7 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714286566 7 77963831 G GT 480 PASS MAGI2 CCDS5594.1 r.? - - Ins intronic I 77963831 77963838 1 25 426.115 - - 6 1 1 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 15 23 15 0 0 ./. 4 4 5 4 27 30 29 30 5 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714289782 7 86817375 C CA 480 PASS DMTF1 CCDS5601.1 r.? - - Ins intronic I 86817375 86817378 1 25 426.115 - - 2 1 1 DMTF1|CCDS5601.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DMTF1|ENST00000425406|r.1571_1572insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 4 5 7 30 38 30 38 5 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714291809 7 93309598 T TA 900 PASS GNGT1 ENST00000455502 r.? - - Ins intronic I 93309598 93309607 1 70 798.965 - - 8 1 1 GNGT1|ENST00000455502|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GNGT1|ENST00000455502|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 25 26 25 0 0 ./. 6 9 11 15 48 42 49 43 11 15 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714298988 7 113004694 ATC A 298 PASS - - - - - Del - D 113004694 113004697 2 15 321.392 - - 1 1 1 - - ./. 0 0 0 0 10 23 10 23 0 0 ./. 2 4 3 4 35 35 35 35 3 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714301296 7 120524265 TGA T 300 PASS - - - - - Del - D 120524265 120524281 2 12 269.332 - - 7 1 - - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 2 3 2 4 29 45 29 45 2 4 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714303481 7 126398660 TG T 300 PASS GRM8 CCDS5794.1 r.? - - Del intronic D 126398660 126398663 1 12 269.332 - - 2 1 1 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 19 21 19 0 0 ./. 2 3 2 3 26 36 26 36 2 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714315389 7 157952478 G GA 660 PASS PTPRN2 CCDS5949.1 r.? - - Ins intronic I 157952478 157952487 1 30 577.479 - - 8 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 16 23 16 0 0 ./. 2 9 5 9 31 34 31 35 5 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714319158 8 8987111 CTG C 900 PASS - - - - - Del - D 8987111 8987118 2 70 809.608 - - 3 1 1 - - ./. 0 0 0 0 16 26 16 26 0 0 ./. 9 6 9 7 27 29 27 29 9 7 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714321993 8 15757698 AG A 300 PASS - - - - - Del - D 15757698 15757700 1 12 268.665 - - 1 1 1 - - ./. 0 0 0 0 18 25 18 25 0 0 ./. 3 2 3 2 39 37 39 37 3 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714323894 8 20993009 GT G 300 PASS - - - - - Del - D 20993009 20993011 1 6 259.634 - - 1 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 0 6 0 25 24 25 24 6 0 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714337471 8 65739049 TA T 300 PASS - - - - - Del - D 65739049 65739051 1 10 266.859 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 1 4 1 23 21 23 21 4 1 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714341135 8 76885504 CATATAACAAACCTTATTAACAA C 551 PASS - - - - - Del - D 76885504 76885530 22 108 1025.5 - - 1 1 1 - - ./. 0 0 0 0 29 23 29 23 0 0 ./. 8 11 8 11 37 35 37 35 8 11 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714364153 9 4591899 C CT 389 PASS SLC1A1 CCDS6452.1 r.? - - Ins downstream I 4591899 4591901 1 18 369.194 - - 1 1 1 SLC1A1|CCDS6452.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 C9orf68|ENST00000381900|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 5 4 6 22 28 23 28 4 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714364368 9 5267782 G GT 840 PASS - - - - - Ins - I 5267782 5267791 1 55 748.021 - - 8 1 1 - - ./. 0 0 0 0 23 27 23 27 0 0 ./. 4 10 7 11 29 45 29 45 7 11 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714365319 9 8040126 A AT 360 PASS - - - - - Ins - I 8040126 8040136 1 16 315.764 - - 9 1 1 - - ./. 0 0 0 0 24 17 24 17 0 0 ./. 3 3 3 6 32 45 32 45 3 6 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714366420 9 10839174 G GGT 298 PASS - - - - - Ins - I 10839174 10839175 2 16 316.366 - - 0 1 1 - - ./. 0 0 0 0 16 20 16 21 0 0 ./. 3 3 1 0 25 34 25 34 4 3 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714370344 9 21775417 C CA 540 PASS - - - - - Ins - I 21775417 21775424 1 24 480.87 - - 6 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 2 7 3 9 9 36 9 36 3 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714383641 9 79838414 TAAG T 958 PASS VPS13A CCDS6655.1 r.? - - Del intronic D 79838414 79838420 3 84 917.342 - - 1 1 1 VPS13A|CCDS6655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS13A|CCDS6655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 6 11 8 13 26 35 26 35 8 13 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714384346 9 82250820 AG A 629 PASS TLE4 CCDS43837.1 r.? - - Del intronic D 82250820 82250824 1 36 594.353 - - 3 1 1 TLE4|CCDS43837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TLE4|CCDS43837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 8 5 9 37 38 37 38 5 9 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714385577 9 85782755 T TA 720 PASS - - - - - Ins - I 85782755 85782757 1 45 636.946 - - 1 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 4 8 4 10 15 28 15 28 4 10 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714390933 9 102529238 TTC T 360 PASS - - - - - Del - D 102529238 102529258 2 15 324.193 - - 9 1 1 - - ./. 0 0 0 0 24 23 24 23 0 0 ./. 4 2 4 2 23 32 23 32 4 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714392053 9 105772277 G GTA 300 PASS CYLC2 CCDS35085.1 r.? - - Ins intronic I 105772277 105772294 2 12 264.14 - - 8 1 - CYLC2|CCDS35085.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 CYLC2|CCDS35085.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 32 22 32 22 0 0 ./. 3 2 3 2 34 51 34 52 3 2 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714408103 X 27804720 TC T 720 PASS - - - - - Del - D 27804720 27804722 1 45 651.715 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 8 4 11 5 18 9 18 9 11 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714416438 X 88120258 GA G 1440 PASS - - - - - Del - D 88120258 88120263 1 168 1300.42 - - 4 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 13 11 17 14 25 20 25 20 17 14 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714416586 X 88955678 T TA 807 PASS - - - - - Ins - I 88955678 88955685 1 90 911.824 - - 6 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 8 9 17 21 26 30 26 30 17 21 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714417416 X 94229076 GTTGT G 1376 PASS - - - - - Del - D 94229076 94229083 4 176 1355.93 - - 1 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 10 15 11 19 21 25 21 25 11 19 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714426124 X 149943329 C CT 660 PASS CD99L2 CCDS35427.1 r.? - - Ins intronic I 149943329 149943331 1 30 590.181 - - 1 1 1 CD99L2|CCDS35427.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CD99L2|CCDS35427.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 5 5 5 0 0 ./. 9 2 10 5 12 10 13 10 10 5 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714429170 Y 13691738 AAAACGAATGGAATGG A 261 PASS - - - - - Del - D 13691738 13691771 15 10 493.364 - - 2 1 1 - - ./. 0 0 0 0 93 65 141 66 0 0 ./. 9 0 16 0 342 109 438 115 18 0 1 1 1 1 1 1 1 1 2662649 PD18006a PD18006b 2714429226 Y 13712148 AAATGG A 277 PASS - - - - - Del - D 13712148 13712176 5 13 657.217 - - 5 1 1 - - ./. 0 0 0 0 27 36 27 36 0 0 ./. 0 12 0 16 64 130 64 131 0 20 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716734078 1 7892077 GTTTTCTTGGTGAGGAGGATTTTAACAACAAATTTAAATATTTTAATATATATGGGTCTAATCAGGTTATCAGTTTCTTAGTGATCTTTGGTAATTTGTATCTTTCAAGAAATGTATCTA G 319 PASS PER3 CCDS89.1 r.? - - Del intronic D 7892077 7892201 119 40 591.103 - - 1 1 1 PER3|CCDS89.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PER3|CCDS89.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 17 25 17 0 0 ./. 7 4 0 0 15 30 22 34 7 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716738049 1 19016077 C CA 540 PASS PAX7 CCDS44074.1 r.? - - Ins intronic I 19016077 19016087 1 18 471.588 - - 9 1 1 PAX7|CCDS44074.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PAX7|CCDS44074.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 8 6 12 17 38 17 38 6 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716740324 1 25404592 G GA 420 PASS - - - - - Ins - I 25404592 25404599 1 20 371.942 - - 6 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 4 4 5 31 12 31 12 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716740456 1 25920758 AT A 420 PASS - - - - - Del - D 25920758 25920768 1 20 376.156 - - 9 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 4 3 9 6 21 18 21 18 9 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716740487 1 26108578 G GA 300 PASS MAN1C1 CCDS265.1 r.? - - Ins intronic I 26108578 26108588 1 12 262.06 - - 9 1 1 MAN1C1|CCDS265.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAN1C1|CCDS265.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 24 18 24 0 0 ./. 2 3 0 1 20 34 20 34 2 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716743510 1 36163893 GT G 600 PASS - - - - - Del - D 36163893 36163903 1 27 537.366 - - 9 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 8 2 11 5 24 23 24 23 11 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716743857 1 37550082 AG A 840 PASS - - - - - Del - D 37550082 37550085 1 63 733.047 - - 2 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 6 8 9 9 34 33 34 33 9 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716745604 1 43159704 T TG 269 PASS YBX1 CCDS470.1 r.? - - Ins intronic I 43159704 43159705 1 10 258.448 - - 0 1 1 YBX1|CCDS470.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 YBX1|CCDS470.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 17 23 17 0 0 ./. 4 1 4 2 31 24 31 24 4 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716745770 1 43756160 AGACTG A 298 PASS - - - - - Del - D 43756160 43756168 5 15 321.216 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 2 7 3 34 23 34 23 7 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716751933 1 64443079 AG A 360 PASS ROR1 CCDS626.1 r.? - - Del intronic D 64443079 64443081 1 16 322.42 - - 1 1 1 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 3 3 4 4 30 22 30 22 4 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716752399 1 65830790 CT C 300 PASS DNAJC6 CCDS30739.1 r.? - - Del intronic D 65830790 65830800 1 10 268.683 - - 9 1 1 DNAJC6|CCDS30739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC6|CCDS30739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 18 24 18 0 0 ./. 4 1 4 1 32 27 32 27 4 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716752410 1 65859548 CTTGTGATAG C 261 PASS DNAJC6 CCDS30739.1 r.? - - Del intronic D 65859548 65859560 9 30 480.619 - - 1 1 1 DNAJC6|CCDS30739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC6|CCDS30739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 5 4 5 4 27 17 27 17 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716752483 1 66077551 ATT A 447 PASS LEPR CCDS631.1 r.? - - Del intronic D 66077551 66077555 2 30 480.619 - - 3 1 1 LEPR|CCDS631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LEPR|CCDS631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 4 5 5 30 25 30 25 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716753752 1 70596173 ATTTCTCC A 261 PASS - - - - - Del - D 70596173 70596184 7 28 482.425 - - 1 1 1 - - ./. 0 0 0 0 20 26 20 26 0 0 ./. 3 6 3 7 31 29 31 29 3 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716754336 1 72524822 A AG 420 PASS NEGR1 CCDS661.1 r.? - - Ins intronic I 72524822 72524823 1 20 371.942 - - 0 1 1 NEGR1|CCDS661.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NEGR1|CCDS661.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 3 5 3 30 27 30 27 5 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716754960 1 74113592 GGAGTTGACAGC GACAA 319 PASS - - - - - Complex - DI 74113593 74113603 11 40 0 - - 0 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 4 7 0 0 23 28 23 28 4 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716756511 1 79092363 A AT 660 PASS IFI44L CCDS687.2 r.? - - Ins intronic I 79092363 79092372 1 30 583.878 - - 8 1 1 IFI44L|CCDS687.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 IFI44L|CCDS687.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 20 18 20 0 0 ./. 9 2 14 4 27 26 27 29 14 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716758015 1 83788343 GA G 512 PASS - - - - - Del - D 83788343 83788347 1 42 591.103 - - 3 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 6 5 9 6 17 30 17 30 9 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716758519 1 85450498 CA C 300 PASS MCOLN2 CCDS30762.1 r.? - - Del intronic D 85450498 85450503 1 12 268.683 - - 4 1 1 MCOLN2|CCDS30762.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCOLN2|CCDS30762.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 2 5 3 34 25 34 25 5 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716758556 1 85547737 CA C 420 PASS WDR63 CCDS702.1 r.? - - Del intronic D 85547737 85547743 1 18 376.156 - - 5 1 1 WDR63|CCDS702.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR63|CCDS702.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 25 27 25 0 0 ./. 2 5 4 7 23 38 23 38 4 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716759207 1 87728791 C CA 420 PASS - - - - - Ins - I 87728791 87728798 1 20 371.942 - - 6 1 1 - - ./. 0 0 0 0 15 20 16 21 0 0 ./. 4 3 4 6 32 33 32 33 4 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716767155 1 113758893 TGAGATTTGGGTG T 464 PASS - - - - - Del - D 113758893 113758907 12 80 858.582 - - 1 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 7 9 8 9 23 35 23 35 8 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716770333 1 142685917 AC A 266 PASS - - - - - Del - D 142685917 142685923 1 30 483.027 - - 5 1 1 - - ./. 0 0 0 0 25 44 25 44 0 0 ./. 4 5 4 5 53 83 53 83 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716773520 1 148894493 GGAAGGTT GGTAA 259 PASS - - - - - Complex - DI 148894494 148894500 7 21 0 - - 0 1 1 - - ./. 0 0 0 0 38 16 38 16 0 0 ./. 6 2 0 0 78 66 78 66 6 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716774490 1 151275424 CCCA C 358 PASS PI4KB CCDS993.1 r.? - - Del intronic D 151275424 151275430 3 20 361.707 - - 1 1 1 PI4KB|CCDS993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PI4KB|CCDS993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 3 4 4 25 27 25 27 4 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716778549 1 163266580 C CCCAAAATATGACTG 493 PASS - - - - - Ins - I 163266580 163266595 14 84 770.232 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 11 6 7 4 34 32 39 34 11 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716779012 1 164625533 C CA 540 PASS PBX1 CCDS1246.1 r.? - - Ins intronic I 164625533 164625535 1 24 478.211 - - 1 1 1 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 2 7 3 13 21 39 22 41 3 13 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716780473 1 169002013 CTTTATTAAAAG C 290 PASS - - - - - Del - D 169002013 169002027 11 36 537.366 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 5 5 5 35 29 35 29 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716781883 1 173217720 GA G 300 PASS AL022310.2 ENST00000421168 r.? - - Del intronic D 173217720 173217727 1 12 268.683 - - 6 1 1 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 2 6 4 39 34 39 34 6 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716781886 1 173252214 AG A 480 PASS AL022310.2 ENST00000421168 r.? - - Del intronic D 173252214 173252217 1 25 428.689 - - 2 1 1 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 4 7 4 17 24 17 24 7 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716782310 1 174355019 AGCTCTTAAAAATAGTTTT A 290 PASS RABGAP1L CCDS1314.1 r.? - - Del intronic D 174355019 174355041 18 32 533.754 - - 1 1 1 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 23 16 23 0 0 ./. 3 7 4 7 35 40 35 40 4 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716784873 1 181622819 CTCTTTT C 377 PASS CACNA1E ENST00000367573 r.? - - Del intronic D 181622819 181622828 6 56 698.576 - - 1 1 1 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 7 6 8 11 21 33 21 33 8 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716787814 1 190465042 ACATAAATGACATTTTAGAAAAAATT A 290 PASS - - - - - Del - D 190465042 190465070 25 36 537.366 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 5 5 4 4 43 36 44 37 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716788161 1 191415740 TTTTTTGTTTTCCATTTGCTTTGTAGATC T 304 PASS - - - - - Del - D 191415740 191415771 28 42 591.103 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 6 5 4 3 20 29 22 31 6 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716788226 1 191667220 T TG 900 PASS - - - - - Ins - I 191667220 191667222 1 70 796.416 - - 1 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 6 9 13 11 30 30 30 31 13 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716788237 1 191710727 CACTAATGAGTAA CAAAT 348 PASS - - - - - Complex - DI 191710728 191710739 12 24 0 - - 0 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 11 1 0 0 38 19 38 19 11 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716788571 1 192758151 GTTTA G 809 PASS - - - - - Del - D 192758151 192758159 4 64 750.506 - - 1 1 - - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 7 7 9 8 26 47 26 47 9 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716788827 1 193550940 GT G 960 PASS - - - - - Del - D 193550940 193550949 1 80 858.582 - - 8 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 7 9 13 10 36 31 36 31 13 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716788920 1 193745456 GATTAACATTTGGCTCCTC G 290 PASS - - - - - Del - D 193745456 193745479 18 36 537.366 - - 1 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 5 5 5 4 27 24 27 25 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716789270 1 194634168 TA T 1080 PASS - - - - - Del - D 194634168 194634176 1 100 966.657 - - 7 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 9 9 12 11 37 27 37 27 12 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716791986 1 201705592 CTCCCATAAACTATCTT C 522 PASS NAV1 CCDS1414.1 r.? - - Del intronic D 201705592 201705611 16 91 964.249 - - 1 1 1 NAV1|CCDS1414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAV1|CCDS1414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 12 6 12 7 34 36 34 36 12 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716793239 1 204449746 TGG T 480 PASS PIK3C2B CCDS1446.1 r.? - - Del intronic D 204449746 204449751 2 25 429.893 - - 4 1 1 PIK3C2B|CCDS1446.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PIK3C2B|CCDS1446.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 4 4 5 6 22 31 22 31 5 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716793641 1 205580854 AATTC A 716 PASS ELK4 CCDS1456.1 r.6452_6455delGAAU c.? p.? Del 3'UTR variant D 205580854 205580862 4 55 752.312 - - 1 1 1 ELK4|CCDS1456.1|r.6452_6455delGAAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ELK4|CCDS1456.1|r.6452_6455delGAAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 22 18 22 18 0 0 ./. 10 4 12 4 36 28 36 28 12 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716793642 1 205581273 AATGGATTATTAT A 725 PASS ELK4 CCDS1456.1 r.6025_6036delAUAAUAAUCCAU c.? p.? Del 3'UTR variant D 205581273 205581286 12 170 1343.42 - - 1 1 1 ELK4|CCDS1456.1|r.6025_6036delAUAAUAAUCCAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ELK4|CCDS1456.1|r.6025_6036delAUAAUAAUCCAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 16 17 16 0 0 ./. 16 9 16 10 37 35 37 35 16 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716794844 1 209715394 AGCTGCCCACACTTGTTCTT A 377 PASS - - - - - Del - D 209715394 209715416 19 50 693.759 - - 1 1 1 - - ./. 0 0 0 0 17 26 17 26 0 0 ./. 4 9 4 8 30 36 30 37 4 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716797272 1 216293328 G GT 300 PASS USH2A CCDS31025.1 r.? - - Ins intronic I 216293328 216293338 1 12 263.867 - - 9 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 3 2 3 36 44 36 44 2 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716797532 1 217023522 CAAAT C 269 PASS ESRRG CCDS1517.1 r.? - - Del intronic D 217023522 217023532 4 12 268.683 - - 2 1 1 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 19 20 19 0 0 ./. 2 3 3 6 40 34 40 34 3 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716797931 1 218102746 CCATCAAACTGCC CTGA 377 PASS - - - - - Complex - DI 218102747 218102758 12 54 0 - - 0 1 1 - - ./. 0 0 0 0 8 23 8 23 0 0 ./. 8 5 0 0 27 33 27 33 8 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716798282 1 219123528 AGCAAATGATT A 319 PASS - - - - - Del - D 219123528 219123541 10 42 588.694 - - 1 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 5 6 5 6 41 38 41 38 5 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716798802 1 220625095 TTGAGCAAGGACAAGAAACTTTGCCTTTGATCTCTCCAGCAGTGCCTGGCTCTAGCAGACTCTCTTCTCTCGAAGTATGTGAATCTATTTAAATGTTATCTAACCACTCTCTGTATGCTGA T 551 PASS - - - - - Del - D 220625095 220625218 120 98 1021 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 6 13 0 0 24 32 30 45 6 13 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716799622 1 223059211 TAC T 300 PASS DISP1 ENST00000360254 r.? - - Del intronic D 223059211 223059229 2 10 266.275 - - 8 1 - DISP1|ENST00000360254|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DISP1|ENST00000360254|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 4 2 4 35 33 35 33 2 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716801916 1 228971906 GTCCTTCCGCGTGGC G 261 PASS - - - - - Del - D 228971906 228971923 14 30 483.629 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 4 4 4 33 19 34 19 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716802236 1 229942420 GCTGGTTATTTATCAGGGAGAATGTGTTGTGAAACTGATGAGCTGCCATGTCGAGGCTGCAAGAAGGGACGGGAGTCTGGCTGGGGCATCTGGTGATTGGCTAAAGTCAGCGATGGAGCAAACCTTCTGTTTTTGTTTTTCCAGGGCTAGCTTCTGTTTAACTCTTAGGAAATAATCCAGTATAAGTTAACAAGGAAGGAAGTATACTGAGGTGTCACTGACCTCCCTTCTTGTCATGGAATTTAGTTTTCCAAGTTTTTTCTGGGGCATCCTTGGCCAAGCAGGGTTCATTCGCTCTGTTGGCAGGGCTCAAGATTTTATTTTTATTTCACACTCAGAAGGGGCCCGACGCTTAGGATTCACCACCTCCTCAGGAAATCTGCCTGTGCTCTGTGGGATATGGTGGCATTTCTATGGGGGATGTTTCTCGGCCACTTGTGGCCCTTAGTTCTTGGGTCTTGAGTCCCCTCAACCATCCCCACCTGCCCAAGTCTCTCACAACTTCATTCTTCCTCTTTTTATGAGGTAGCAAGATAAGTTCTGCTCTGTACTCTTGGCCTCAGTGTCCTCTTCTGTAATGTGGGGATTTAGGATGTTATCTCTTAGAAAACATCTGAAACATACTTGGCTCTCAAAGAATGCTATCCGGTGCCTATTTCTCAAACCACGTGCCCAGATTCCTGACCAATCAGCTGCTCATATTTCTATGTCTGGTTCCAGAACAAAATTTTGTCACAGCTAAGAATTATAAAATTTGTACCCCTCAGCCTATAGTGTAAAAATAGCTGCCAGAAGAGGCCATAGATATATCCAGAACAGAGATTAGAATGCTTCACTGAAGACTTGTTTATTGTAGTAAATGACCCAAACTTAAATCTTAAATGTCCAGCCAGAAGAGATGAGTAAACCTAAGGTAACATTATACAATGGAATACATGACAACTACCAAACTCATTTTAAATATTAATAGATTGCATAATATATTGCCAAGTGAATAATACAGGTGACAGAACTGTATTTACAATCTTATTTCATTTTTGTAAAATAAATACTTCACACACACAACACACACACACACACACACACCGCACAGTGTTGCAGGAAGCATATGCACCAGATGTTACCTGTGGTTATCAGAAGGATGAGGCAAGGGGCCATGTTCTTGTCTTGCTGACCTGCATTTCCTATAAGGTTGCAGTGGAGGAGGCCCCTCAGGGCACCACACCCGGGCCCTCTCCTTTCCTCTGCCCAACCCCACTTCAAGCTTATAATCAAATTCTAATCAGCAAGTGGGTACTCAATTGCCGAATGTTTTTGGGCTCATGTTTGCCAATTTAAAAACAGCAGACGTTTCTAGCCAATTATTGCAGTGACTCTAGAAGAGTGATTACTTTCTCCGTCTTGTGGCTCTGATGATTCTTCAGGAAATTGAGCTGAGAGTTTAATGTCAAGTGGCTTTGTGAACAGCATTTTTATTGGAAGTTGAGCCTTTGATTTCTGAGTTGTGAAGCAACTCTGTTCTATTCGAGAGAATGTTTTCTTTGACCATGGAAGACATCAAATTTGGTTCAAACAAGAGGACCTTGTGTGAGGACTACATACACAGGTGATCCTAAAGTATCAGCTTGACCCCAATCACAGTGTTTACGTGTTTAGGTAGCTCCAAAATGTTTGAAGCAGCTTCCTAATGAGCAGCTGGTTTTGTTGTGAAATTGTGTTTCTAAACAGCAACCTCTCAGAGCAGCTGAGAAATAATTGTAAAATAATAATTATTAATAATTGTATGTAAATAATGATTAATTAATCATTAATAATGAATGATAAATAATTATTAAGAATAATTGAAATGATTCCTAATGTTTTTATTCTGTTTTACTAATAATAAGTAAAGATTTGACTTTTGTGTTTTATTTTATAGTTTGCAAACTACTTTTTAAAAACAACTTTATTGGGATATAATTTTCATACCATACAACTAACTCCCTTTTTTTTGAGACGGGTTTTTGCTCTGGCACCTGGGCTTCTGGTAGCGCAGTCATGGCTCACTGCAGCTTCAATCTCCCAAACCCAAATGATCCTCCCGTCTCAGCCTTCCCAGAAGCTGGGACTATAGGTGTGTGCCGCCACGCCTGGCTAATTTTAAAATTTTTGTAGAGATAGAATCTCCCTATGTTGCCCAGGCTGGCCTCAAACTGCTGGGCTCAAGTGATCCTCCTTCCTCAACCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGTACCCAGCCAATTTGCCCATTTAAAGTGTACAATCTAATGGTTTTGAGTATATTTGCAGAGTTGTGCAACCATCACCACAATCTAACTTCAGAACAATTTTTTCACCTCAAGAAGAAATTCTGCCTAATTGCAGTCACTTCGTATTCTCCATCTCAACTCTCATTCCTAGTCTTATGAAATGTAGGGGATAAGAGAAAACTTCCCCTTCACCCTTTGAAGGTTCTCTAACAAAAGGCAGAATAACAGGAGAAAAGGTACACACATTTATTAACGTGTATGGTGGGGTTGGGATGTGGGCAGGGGAGTAGTGGATCACAGGGGGATTGCCCACCAACCCAGTGTGGCACAGAAGCTTTACGGGGAAGAGAGGAGATGGAGA G 319 PASS - - - - - Del - D 229942420 229945063 2639 42 591.103 - - 1 1 - - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 6 5 0 0 24 28 30 33 6 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716802375 1 230365612 GTAGTT G 749 PASS GALNT2 CCDS1582.1 r.? - - Del intronic D 230365612 230365620 5 56 698.576 - - 1 1 1 GALNT2|CCDS1582.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT2|CCDS1582.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 7 6 8 7 48 35 48 35 8 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716802613 1 231032960 GTGTT G 745 PASS - - - - - Del - D 231032960 231032973 4 60 804.243 - - 3 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 11 4 15 6 44 31 44 31 16 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716803630 1 233991957 TATA T 300 PASS - - - - - Del - D 233991957 233991961 3 12 268.683 - - 1 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 3 3 3 21 28 21 28 3 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716803946 1 234891362 CGGTCACGT C 435 PASS - - - - - Del - D 234891362 234891373 8 60 806.049 - - 1 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 11 4 12 4 43 32 43 32 12 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716803947 1 234891984 GA G 360 PASS - - - - - Del - D 234891984 234891993 1 12 322.42 - - 8 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 1 5 5 7 36 38 36 38 5 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716803948 1 234892254 CG C 420 PASS - - - - - Del - D 234892254 234892258 1 20 372.544 - - 3 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 3 7 7 34 30 34 30 7 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716805331 1 237963793 GTCACCT G 377 PASS RYR2 ENST00000366574 r.? - - Del intronic D 237963793 237963802 6 56 697.974 - - 1 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 20 11 20 0 0 ./. 6 7 6 7 25 27 25 27 6 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716805523 1 238544454 GTGG GA 805 PASS - - - - - Complex - DI 238544455 238544457 3 80 0 - - 0 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 9 7 0 0 37 31 37 31 9 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716805821 1 239226709 CTGTTCTATTTTATACACT C 261 PASS - - - - - Del - D 239226709 239226730 18 30 483.629 - - 1 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 4 5 3 3 28 26 29 28 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716805992 1 239765228 CT C 269 PASS - - - - - Del - D 239765228 239765231 1 6 268.081 - - 2 1 1 - - ./. 0 0 0 0 1 10 1 10 0 0 ./. 0 5 0 6 1 32 1 32 0 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716806545 1 240917197 CT C 389 PASS - - - - - Del - D 240917197 240917207 1 20 376.156 - - 9 1 1 - - ./. 0 0 0 0 10 22 10 22 0 0 ./. 3 4 9 13 17 30 17 30 9 13 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716806612 1 241142021 ATAGT A 656 PASS RGS7 CCDS31071.1 r.? - - Del intronic D 241142021 241142032 4 54 698.576 - - 2 1 1 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 8 5 13 7 39 34 39 34 13 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716807087 1 242138632 CATGGCAGGATCT CATGA 348 PASS - - - - - Complex - DI 242138633 242138644 12 45 0 - - 0 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 8 0 0 28 29 29 29 4 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716809324 1 247325986 C CA 809 PASS ZNF124 CCDS31089.1 r.? - - Ins intronic I 247325986 247325994 1 60 731.24 - - 7 1 1 ZNF124|CCDS31089.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF124|CCDS31089.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 16 20 17 0 0 ./. 9 5 10 5 49 28 50 28 10 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716809366 1 247378223 G GT 1260 PASS - - - - - Ins - I 247378223 247378231 1 120 1115.22 - - 7 1 1 - - ./. 0 0 0 0 22 19 23 19 0 0 ./. 14 7 17 14 46 42 46 42 17 14 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716814231 10 11117083 AGTGAATGGTCTTGTCCCTTGTCAAGTGTGGCTTGATT A 406 PASS CELF2 CCDS44354.1 r.? - - Del intronic D 11117083 11117123 37 63 754.01 - - 1 1 1 CELF2|CCDS44354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CELF2|CCDS44354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 8 6 4 3 20 12 25 15 9 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716816461 10 16960910 T TA 1140 PASS CUBN CCDS7113.1 r.? - - Ins intronic I 16960910 16960917 1 110 1008.46 - - 6 1 1 CUBN|CCDS7113.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CUBN|CCDS7113.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 20 22 20 0 0 ./. 10 9 14 12 33 25 33 26 14 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716817808 10 20754863 T TA 1080 PASS - - - - - Ins - I 20754863 20754871 1 75 959.378 - - 7 1 1 - - ./. 0 0 0 0 24 30 24 31 0 0 ./. 4 14 6 19 30 42 30 42 6 19 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716819485 10 26328539 TGGTA T 360 PASS MYO3A CCDS7148.1 r.? - - Del intronic D 26328539 26328547 4 12 323.405 - - 1 1 1 MYO3A|CCDS7148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO3A|CCDS7148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 19 9 19 0 0 ./. 5 1 5 2 29 18 29 18 5 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716819745 10 27042537 AAATACTTATT A 261 PASS ABI1 CCDS7150.1 r.? - - Del intronic D 27042537 27042552 10 30 485.108 - - 1 1 1 ABI1|CCDS7150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABI1|CCDS7150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 19 20 19 0 0 ./. 4 5 5 5 28 39 28 39 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716819847 10 27190312 TG T 600 PASS - - - - - Del - D 27190312 27190315 1 27 539.008 - - 2 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 8 3 9 27 38 27 38 3 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716820817 10 29134667 TGATGGTACGA T 290 PASS C10orf126 ENST00000375520 r.? - - Del upstream D 29134667 29134681 10 27 539.008 - - 1 1 1 C10orf126|ENST00000375520|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C10orf126|ENST00000375520|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 19 15 19 15 0 0 ./. 8 2 12 2 32 19 32 20 12 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716823645 10 36102881 TTGCTTTTGCTGTGGGGAG T 406 PASS - - - - - Del - D 36102881 36102902 18 60 752.806 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 9 5 8 4 28 26 29 27 9 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716823685 10 36204208 TC T 780 PASS - - - - - Del - D 36204208 36204212 1 44 700.711 - - 3 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 3 10 6 16 28 35 28 35 6 16 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716824612 10 38985787 AGATTTGCTAGTCT A 522 PASS - - - - - Del - D 38985787 38985803 13 100 965.399 - - 1 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 9 9 9 8 47 20 47 20 9 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716826251 10 42823808 TTA T 420 PASS - - - - - Del - D 42823808 42823813 2 20 377.306 - - 2 1 1 - - ./. 0 0 0 0 24 18 24 18 0 0 ./. 4 3 5 5 37 34 37 34 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716829973 10 56554682 T TA 720 PASS PCDH15 CCDS44404.1 r.? - - Ins intronic I 56554682 56554685 1 48 639.585 - - 2 1 1 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 24 20 24 0 0 ./. 5 7 7 10 26 39 26 39 7 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716830813 10 58741435 TAA T 660 PASS - - - - - Del - D 58741435 58741439 2 40 592.307 - - 3 1 1 - - ./. 0 0 0 0 19 25 19 25 0 0 ./. 4 7 7 12 32 52 32 52 7 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716834694 10 69540884 TCCCTAGCAGAG T 464 PASS - - - - - Del - D 69540884 69540899 11 72 861.209 - - 1 1 1 - - ./. 0 0 0 0 12 28 12 28 0 0 ./. 11 5 11 5 36 33 36 33 11 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716835878 10 72027290 GCTGGCCCTGCT G 261 PASS NPFFR1 ENST00000277942 r.? - - Del upstream D 72027290 72027305 11 24 485.108 - - 1 1 1 NPFFR1|ENST00000277942|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 NPFFR1|ENST00000277942|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 14 13 14 0 0 ./. 7 2 7 2 33 24 33 24 7 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716837184 10 75917076 CA C 600 PASS ADK CCDS7343.1 r.? - - Del intronic D 75917076 75917083 1 27 539.008 - - 6 1 1 ADK|CCDS7343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADK|CCDS7343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 2 8 5 9 35 40 35 40 5 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716837658 10 77358059 GA G 900 PASS C10orf11 ENST00000354343 r.? - - Del intronic D 77358059 77358062 1 66 805.502 - - 2 1 1 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 10 7 11 28 40 28 40 7 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716839163 10 82734564 C CT 300 PASS - - - - - Ins - I 82734564 82734565 1 12 266.494 - - 0 1 1 - - ./. 0 0 0 0 24 17 25 17 0 0 ./. 2 3 0 0 22 27 22 27 2 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716842671 10 94054790 T TA 329 PASS CPEB3 CCDS31246.1 r.? - - Ins upstream I 94054790 94054800 1 12 319.793 - - 9 1 1 CPEB3|CCDS31246.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 MARCH5|CCDS7420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 22 14 22 0 0 ./. 1 5 4 8 14 40 14 41 4 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716844679 10 99626300 ATGTGTGTAAGTGCAG A 493 PASS GOLGA7B CCDS31265.1 r.1413_1427delUGUGUGUAAGUGCAG c.? p.? Del 3'UTR variant D 99626300 99626320 15 78 915.712 - - 1 1 - GOLGA7B|CCDS31265.1|r.1413_1427delUGUGUGUAAGUGCAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 GOLGA7B|CCDS31265.1|r.1413_1427delUGUGUGUAAGUGCAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 24 17 24 0 0 ./. 12 5 10 6 36 22 38 22 12 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716844939 10 100561223 CCCCATCAAAAAACTAT C 493 PASS HPSE2 CCDS7477.1 r.? - - Del intronic D 100561223 100561241 16 88 916.314 - - 1 1 1 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 23 24 23 0 0 ./. 10 7 10 7 37 22 37 22 10 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716846521 10 104804337 CT C 480 PASS CNNM2 CCDS44474.1 r.? - - Del intronic D 104804337 104804343 1 25 422.778 - - 5 1 1 CNNM2|CCDS44474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNNM2|CCDS44474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 19 26 19 0 0 ./. 4 4 10 8 41 17 41 17 10 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716847350 10 107476279 TTC T 360 PASS - - - - - Del - D 107476279 107476285 2 7 323.405 - - 2 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 0 6 0 7 21 32 21 32 0 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716849982 10 115587838 AAGAACATAACT A 551 PASS - - - - - Del - D 115587838 115587853 11 110 1024.12 - - 1 1 1 - - ./. 0 0 0 0 23 20 23 20 0 0 ./. 9 10 9 11 33 26 33 26 9 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716856083 10 132354125 GAGATGCGT G 290 PASS - - - - - Del - D 132354125 132354139 8 35 539.008 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 4 6 4 30 21 30 21 6 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716864593 11 23026372 AAAAAGTTGAAAAAT A 319 PASS - - - - - Del - D 23026372 23026389 14 42 594.521 - - 1 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 6 5 7 6 28 33 28 33 7 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716864669 11 23166561 GAGTT GA 689 PASS - - - - - Complex - DI 23166562 23166565 4 33 0 - - 0 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 2 10 0 0 17 26 17 26 2 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716865625 11 25608900 CA C 780 PASS - - - - - Del - D 25608900 25608905 1 54 702.616 - - 4 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 5 8 5 9 19 24 19 24 5 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716865688 11 25722486 GCATAAAACATGCCTTATTATGA G 406 PASS - - - - - Del - D 25722486 25722512 22 60 755.459 - - 1 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 5 9 4 8 20 19 21 20 5 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716866165 11 26946472 AT A 600 PASS - - - - - Del - D 26946472 26946477 1 35 539.872 - - 4 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 4 10 5 26 23 26 23 10 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716867694 11 32346344 G GT 329 PASS - - - - - Ins - I 32346344 32346345 1 16 320.672 - - 0 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 3 5 3 9 25 10 25 5 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716874804 11 57707227 TA T 509 PASS - - - - - Del - D 57707227 57707232 1 28 486.426 - - 4 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 6 3 9 4 25 25 25 25 9 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716874964 11 58175995 TAATTTAATTTTTATTTTACTTTTTTTGATTTTTCTCTAAGATATCTCCTTACCGATTTTCTTAACACTTATCTACCTTATCACCACAATTCTGGCCTGGGAATGCTTTTCTTTTCCAAAAAAGGAGACAGATTCATCCTTTTGCACACAGATTCATCGCTTTGCACTGTTGCTTCTGAGCCCACACCACACTCCCAAGCAGACTTATCACATCTCTCTTAGTACAAGCCAGTGTCATGATTAAACATTTGTTCTGTACACCAAGGTTGTTGCTTCACCTCAAATTTGAGTAAGAAATGTAGCCTTTTCAAACTTCAGCTTCTCTTCTGTAAGGAAGAAGAAAATACTATCTTGTCATTCTCATAATATTTTCAA T 261 PASS - - - - - Del - D 58175995 58176372 374 28 484.62 - - 1 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 3 6 0 0 16 9 19 15 3 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716875651 11 60375443 GTTTCTCTTTAGTGTCC G 406 PASS - - - - - Del - D 60375443 60375464 16 64 756.663 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 7 7 7 7 24 20 24 20 7 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716877783 11 67367489 TG T 300 PASS C11orf72 ENST00000333139 r.? - - Del downstream D 67367489 67367491 1 12 270.237 - - 1 1 1 C11orf72|ENST00000333139|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C11orf72|ENST00000333139|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 2 5 5 24 28 24 28 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716878448 11 69283014 CCTCTGCAAGACAGGG CTA 261 PASS - - - - - Complex - DI 69283015 69283029 15 28 0 - - 0 1 1 - - ./. 0 0 0 0 12 23 12 23 0 0 ./. 3 6 0 0 13 17 13 18 3 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716882382 11 83421649 AC A 809 PASS DLG2 CCDS41696.1 r.? - - Del intronic D 83421649 83421651 1 55 756.663 - - 1 1 1 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 10 4 14 5 27 14 27 14 14 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716898489 12 5124872 ATGGGAGTGT A 609 PASS - - - - - Del - D 5124872 5124884 9 126 1132.57 - - 1 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 8 13 11 14 23 20 23 20 11 14 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716902814 12 18986878 GT G 480 PASS - - - - - Del - D 18986878 18986882 1 21 431.31 - - 3 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 6 2 7 4 20 15 20 15 7 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716905044 12 25669507 AAT A 478 PASS IFLTD1 CCDS44849.1 r.? - - Del intronic D 25669507 25669514 2 28 485.901 - - 3 1 1 IFLTD1|CCDS44849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IFLTD1|CCDS44849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 3 6 4 7 27 18 27 18 4 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716905234 12 26366886 GGCACATGGTA G 493 PASS SSPN CCDS8707.1 r.? - - Del intronic D 26366886 26366898 10 88 917.813 - - 1 1 1 SSPN|CCDS8707.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SSPN|CCDS8707.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 10 7 11 7 19 15 20 15 12 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716906708 12 31174844 TA T 1080 PASS AC008013.1 ENST00000500527 r.883delU - - Del non-coding variant D 31174844 31174847 1 100 971.802 - - 2 1 1 AC008013.1|ENST00000500527|r.883delU|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 AC008013.1|ENST00000500527|r.883delU|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 11 25 11 25 0 0 ./. 9 9 11 10 21 20 21 20 11 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716908741 12 39339146 TAAGA T 300 PASS - - - - - Del - D 39339146 39339159 4 12 269.945 - - 3 1 1 - - ./. 0 0 0 0 29 19 29 19 0 0 ./. 3 2 4 3 36 16 36 16 4 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716910770 12 45670660 ATAAT A 807 PASS ANO6 CCDS31782.1 r.? - - Del intronic D 45670660 45670667 4 60 792.978 - - 1 1 1 ANO6|CCDS31782.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO6|CCDS31782.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 11 4 12 18 34 18 34 4 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716910910 12 46164910 TATTTCTTTTCC T 377 PASS ARID2 CCDS31783.1 r.? - - Del intronic D 46164910 46164929 11 54 701.255 - - 1 1 1 ARID2|CCDS31783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARID2|CCDS31783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 21 23 21 0 0 ./. 5 8 7 9 32 42 32 42 7 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716910949 12 46347160 ATATT A 389 PASS SFRS2IP CCDS8748.2 r.? - - Del intronic D 46347160 46347167 4 20 377.923 - - 1 1 1 SFRS2IP|CCDS8748.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFRS2IP|CCDS8748.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 4 3 4 29 32 29 32 3 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716913094 12 51664135 AGCAGAGGCCGAACGAGGACCCCGAGCGGAGGAAGCCGCGGGTGGCGCGCGGGGTTGGC A 522 PASS SMAGP CCDS44889.1 r.10_67del58 c.? p.? Del 5'UTR variant D 51664135 51664204 58 100 964.578 - - 1 1 1 SMAGP|CCDS44889.1|r.10_67del58|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 SMAGP|CCDS44889.1|r.10_67del58|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 16 15 16 15 0 0 ./. 9 9 0 0 20 19 29 28 9 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716917603 12 64194346 G GA 300 PASS TMEM5 CCDS8966.1 r.? - - Ins intronic I 64194346 64194354 1 12 266.333 - - 7 1 1 TMEM5|CCDS8966.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM5|CCDS8966.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 23 13 23 0 0 ./. 3 2 8 3 30 50 31 50 8 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716918858 12 67294364 CTCTAGAGCCTA C 435 PASS - - - - - Del - D 67294364 67294379 11 70 809.835 - - 1 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 9 6 11 8 46 34 46 34 11 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716919620 12 69551835 A AT 540 PASS - - - - - Ins - I 69551835 69551842 1 30 480.483 - - 6 1 1 - - ./. 0 0 0 0 26 14 26 19 0 0 ./. 4 5 6 9 44 36 45 39 6 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716919709 12 69721706 GGAGCTTGCAGT G 493 PASS - - - - - Del - D 69721706 69721722 11 84 903.364 - - 1 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 6 11 7 11 26 30 26 30 7 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716921356 12 74962618 TCA T 360 PASS - - - - - Del - D 74962618 74962623 2 16 323.934 - - 2 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 3 3 4 5 32 39 32 39 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716921696 12 75889789 G GGT 300 PASS GLIPR1 CCDS9011.1 r.? - - Ins intronic I 75889789 75889790 2 6 259.108 - - 0 1 - GLIPR1|CCDS9011.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GLIPR1|CCDS9011.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 0 5 1 4 19 39 19 39 1 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716922338 12 77453007 G GA 300 PASS E2F7 CCDS9016.1 r.? - - Ins intronic I 77453007 77453017 1 10 266.935 - - 9 1 1 E2F7|CCDS9016.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 E2F7|CCDS9016.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 20 16 0 0 ./. 4 1 5 1 58 50 59 50 5 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716926084 12 88559722 CAA C 360 PASS TMTC3 CCDS9032.1 r.? - - Del intronic D 88559722 88559727 2 15 323.934 - - 4 1 1 TMTC3|CCDS9032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMTC3|CCDS9032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 2 4 2 41 43 41 43 4 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716927740 12 93335913 CTGGGCACGG C 638 PASS - - - - - Del - D 93335913 93335926 9 108 1187.76 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 17 5 0 0 52 27 52 27 17 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716933557 12 107377904 CTGCTCCTG C 290 PASS MTERFD3 CCDS9111.1 r.? - - Del intronic D 107377904 107377917 8 32 539.89 - - 1 1 1 MTERFD3|CCDS9111.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MTERFD3|CCDS9111.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 7 4 8 20 26 20 26 4 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716937798 12 119032420 ATGGTTTCTCAG A 493 PASS - - - - - Del - D 119032420 119032432 11 90 917.813 - - 1 1 1 - - ./. 0 0 0 0 24 16 24 16 0 0 ./. 9 8 11 9 31 33 31 33 11 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716938304 12 120320900 TAGCCACAAAGTGGAAACTACCCAA T 406 PASS - - - - - Del - D 120320900 120320926 24 55 755.846 - - 1 1 1 - - ./. 0 0 0 0 22 18 22 18 0 0 ./. 10 4 10 4 43 16 43 16 10 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716943521 12 132871430 TGCCGTGGGC T 261 PASS GALNT9 CCDS41866.1 r.? - - Del intronic D 132871430 132871443 9 30 485.901 - - 1 1 1 GALNT9|CCDS41866.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GALNT9|CCDS41866.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 14 24 14 0 0 ./. 5 4 5 5 35 23 35 23 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716948684 13 28950057 TTTTGCAAAAGATA T 771 PASS FLT1 CCDS9330.1 r.? - - Del intronic D 28950057 28950075 13 204 1461.64 - - 1 1 1 FLT1|CCDS9330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FLT1|CCDS9330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 18 28 18 0 0 ./. 16 11 16 11 63 60 63 60 17 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716951846 13 37987563 ACATTC AGAT 956 PASS - - - - - Complex - DI 37987564 37987568 5 99 0 - - 0 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 10 8 0 0 22 17 22 17 10 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716954391 13 46895973 CCTTG CA 596 PASS - - - - - Complex - DI 46895974 46895977 4 49 0 - - 0 1 1 - - ./. 0 0 0 0 13 31 13 31 0 0 ./. 6 6 0 0 17 10 17 10 6 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716956908 13 54942241 CT C 689 PASS - - - - - Del - D 54942241 54942245 1 48 649.886 - - 3 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 7 6 9 21 20 21 20 6 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716957369 13 56299320 TC T 480 PASS - - - - - Del - D 56299320 56299323 1 25 433.258 - - 2 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 4 7 7 20 26 20 26 7 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716958526 13 60291382 AT A 1080 PASS DIAPH3 CCDS41898.1 r.? - - Del intronic D 60291382 60291388 1 100 974.83 - - 5 1 1 DIAPH3|CCDS41898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIAPH3|CCDS41898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 24 10 24 0 0 ./. 9 9 10 12 31 31 31 31 10 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716959241 13 62614099 GTC G 360 PASS - - - - - Del - D 62614099 62614119 2 15 322.535 - - 9 1 1 - - ./. 0 0 0 0 9 22 9 22 0 0 ./. 2 4 3 5 17 38 17 38 3 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716964421 13 79066338 GACT G 509 PASS - - - - - Del - D 79066338 79066345 3 30 486.211 - - 2 1 1 - - ./. 0 0 0 0 32 15 32 15 0 0 ./. 4 5 5 6 25 27 25 27 5 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716964497 13 79336674 TACTGTGGAGATAAAC T 348 PASS - - - - - Del - D 79336674 79336692 15 49 649.886 - - 1 1 1 - - ./. 0 0 0 0 25 20 25 20 0 0 ./. 6 6 6 6 17 22 17 22 6 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716964570 13 79734540 GTTA G 960 PASS - - - - - Del - D 79734540 79734545 3 77 865.913 - - 1 1 1 - - ./. 0 0 0 0 22 24 22 24 0 0 ./. 6 10 8 16 21 28 21 28 8 16 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716964948 13 81027418 ATG A 689 PASS - - - - - Del - D 81027418 81027422 2 48 649.886 - - 1 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 5 7 7 9 23 23 23 23 7 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716965616 13 83314964 GGCCTATCTCT G 522 PASS - - - - - Del - D 83314964 83314979 10 96 974.227 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 7 11 9 10 24 20 24 21 9 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716968689 13 93958338 CACAT C 569 PASS GPC6 CCDS9469.1 r.? - - Del intronic D 93958338 93958344 4 35 541.572 - - 1 1 1 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 6 5 6 25 30 25 30 5 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716970775 13 100235401 GA G 900 PASS - - - - - Del - D 100235401 100235403 1 72 811.756 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 7 8 9 11 19 30 19 30 9 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716971401 13 102038322 A AT 300 PASS NALCN CCDS9498.1 r.? - - Ins intronic I 102038322 102038332 1 12 267.776 - - 9 1 1 NALCN|CCDS9498.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NALCN|CCDS9498.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 22 19 22 0 0 ./. 3 2 4 2 31 23 31 23 4 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716971498 13 102322014 ATTGTAAAAC A 319 PASS ITGBL1 CCDS9499.1 r.? - - Del intronic D 102322014 102322028 9 36 595.127 - - 1 1 1 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 3 8 5 8 13 34 13 35 5 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716972399 13 105236176 AATATAAGTTGGTAGAAACCTTAGCC A 406 PASS - - - - - Del - D 105236176 105236205 25 55 758.201 - - 1 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 4 10 4 9 23 29 23 31 4 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716972879 13 106686564 G GA 389 PASS - - - - - Ins - I 106686564 106686572 1 20 374.886 - - 7 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 4 3 6 26 30 27 30 3 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716977529 14 23831020 TTTAA T 449 PASS EFS CCDS9595.1 r.? - - Del intronic D 23831020 23831027 4 24 434.054 - - 1 1 1 EFS|CCDS9595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EFS|CCDS9595.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 3 5 5 7 27 26 27 26 5 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716981280 14 36504451 C CT 300 PASS - - - - - Ins - I 36504451 36504459 1 6 268.273 - - 7 1 1 - - ./. 0 0 0 0 13 5 14 5 0 0 ./. 5 0 6 0 23 1 23 1 6 0 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716982567 14 41289685 TTCA T 420 PASS - - - - - Del - D 41289685 41289691 3 18 379.797 - - 1 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 2 5 3 7 18 27 18 27 3 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716986163 14 52803371 AG A 480 PASS - - - - - Del - D 52803371 52803373 1 25 433.452 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 4 4 5 17 23 17 23 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716988489 14 60694831 TG T 780 PASS - - - - - Del - D 60694831 60694834 1 54 705.337 - - 2 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 5 8 5 8 21 36 21 36 5 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716996205 14 87186706 AC A 480 PASS - - - - - Del - D 87186706 87186708 1 21 434.054 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 2 6 3 10 23 25 23 25 3 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716997470 14 91840132 AGCT A 600 PASS CCDC88C CCDS45151.1 r.? - - Del intronic D 91840132 91840137 3 35 542.567 - - 1 1 1 CCDC88C|CCDS45151.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC88C|CCDS45151.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 6 4 7 6 24 14 24 14 7 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716997587 14 92080642 C CC 538 PASS CATSPERB CCDS32142.1 r.? - - Ins intronic I 92080641 92080643 1 36 536.547 - - 1 1 1 CATSPERB|CCDS32142.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CATSPERB|CCDS32142.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 12 0 0 ./. 5 5 0 1 20 25 20 25 5 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2716997966 14 93129365 AG A 540 PASS RIN3 CCDS32144.1 r.? - - Del intronic D 93129365 93129368 1 28 488.311 - - 2 1 1 RIN3|CCDS32144.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIN3|CCDS32144.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 17 29 17 0 0 ./. 3 6 4 7 16 19 16 19 4 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717005269 15 26663007 CTAAAGTGTATGCACCTAAAAACAAGCACCAAAATA C 435 PASS - - - - - Del - D 26663007 26663045 35 66 813.158 - - 1 1 1 - - ./. 0 0 0 0 24 14 24 14 0 0 ./. 10 5 8 4 38 31 40 32 10 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717006509 15 30335958 CTGAACAAT C 551 PASS ENSG00000215315 ENST00000400005 r.? - - Del upstream D 30335958 30335969 8 104 1030 - - 1 1 1 ENSG00000215315|ENST00000400005|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000215315|ENST00000400005|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 19 13 19 13 0 0 ./. 7 12 9 12 28 29 28 29 9 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717006861 15 31720029 GAGAGAGGGGAAGTGCTACACTTTTAAACAACCAGATCTTCCA G 261 PASS - - - - - Del - D 31720029 31720074 42 30 486.691 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 5 3 1 21 26 22 30 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717007008 15 32193386 TGAGGGTTTTG T 319 PASS - - - - - Del - D 32193386 32193400 10 42 596.316 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 5 6 5 21 29 21 29 6 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717008009 15 34797874 AC A 300 PASS - - - - - Del - D 34797874 34797879 1 10 266.838 - - 4 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 1 5 1 31 20 31 20 5 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717010927 15 42805981 T TG 300 PASS SNAP23 CCDS10087.1 r.? - - Ins intronic I 42805981 42805986 1 10 268.042 - - 4 1 1 SNAP23|CCDS10087.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNAP23|CCDS10087.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 18 0 0 ./. 4 1 5 1 35 26 35 26 5 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717011790 15 45451006 ATC A 269 PASS DUOX1 CCDS32221.1 r.? - - Del intronic D 45451006 45451012 2 10 271.053 - - 2 1 1 DUOX1|CCDS32221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DUOX1|CCDS32221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 4 1 6 33 20 33 20 1 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717012476 15 47564344 ATGGAAAAGTTAGTT A 290 PASS - - - - - Del - D 47564344 47564363 14 35 540.299 - - 1 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 4 6 4 6 32 40 32 40 4 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717016091 15 57476927 GA G 960 PASS TCF12 CCDS10159.1 r.? - - Del intronic D 57476927 57476930 1 80 860.143 - - 2 1 1 TCF12|CCDS10159.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF12|CCDS10159.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 11 24 11 0 0 ./. 9 7 14 9 28 34 28 34 14 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717022518 15 74699140 TCCCACCTCCCACCTAGGAC T 406 PASS SEMA7A CCDS10262.1 r.? - - Del downstream D 74699140 74699161 19 63 756.539 - - 1 1 1 SEMA7A|CCDS10262.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SEMA7A|CCDS10262.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 16 16 16 0 0 ./. 6 8 6 6 30 24 30 26 6 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717025237 15 82153819 GTCTCCTCCTGACTGCCCA G 290 PASS - - - - - Del - D 82153819 82153839 18 35 542.105 - - 1 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 6 4 7 3 49 24 49 25 7 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717036064 16 11200149 CAAACTTTTTTGTGGGG C 522 PASS CLEC16A CCDS45409.1 r.? - - Del intronic D 11200149 11200166 16 91 971.661 - - 1 1 1 CLEC16A|CCDS45409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLEC16A|CCDS45409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 18 22 18 0 0 ./. 6 12 7 13 38 51 38 51 7 13 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717036281 16 11611228 CTAATGTCAGTT C 481 PASS ENSG00000228070 ENST00000412978 r.? - - Del intronic D 11611228 11611242 11 90 918.115 - - 1 1 1 ENSG00000228070|ENST00000412978|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000228070|ENST00000412978|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 9 8 14 10 37 26 37 26 14 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717038970 16 17838013 TAAAGGGACAGAGACAC T 406 PASS - - - - - Del - D 17838013 17838034 16 64 755.67 - - 1 1 - - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 7 7 9 6 48 27 48 28 9 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717043818 16 30084056 TAAA T 447 PASS ALDOA CCDS10668.1 r.? - - Del downstream D 30084056 30084063 3 28 478.305 - - 6 1 1 ALDOA|CCDS10668.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PPP4C|CCDS10669.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 28 25 28 25 0 0 ./. 3 6 4 9 30 25 30 25 4 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717053294 16 63237337 ATAA AAG 720 PASS - - - - - Complex - DI 63237338 63237340 3 49 0 - - 0 1 1 - - ./. 0 0 0 0 24 13 24 13 0 0 ./. 6 6 0 0 27 27 27 27 6 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717054466 16 68195966 G GA 569 PASS NFATC3 CCDS10862.1 r.? - - Ins intronic I 68195966 68195968 1 36 529.443 - - 1 1 1 NFATC3|CCDS10862.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NFATC3|CCDS10862.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 5 5 6 7 11 19 11 19 6 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717055269 16 70967606 TA T 300 PASS HYDIN2 CCDS42189.1 r.? - - Del intronic D 70967606 70967608 1 12 270.742 - - 1 1 1 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 32 25 32 0 0 ./. 3 2 4 5 46 61 46 61 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717060250 16 87924283 GCCATCTCAGCTCACTGCAACCTCCGCCTT G 435 PASS CA5A CCDS10965.1 r.? - - Del intronic D 87924283 87924316 29 66 811.624 - - 1 1 1 CA5A|CCDS10965.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CA5A|CCDS10965.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 9 21 9 0 0 ./. 10 5 12 3 27 13 29 15 14 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717063822 17 8216300 TG T 598 PASS ARHGEF15 CCDS11139.1 r.815delG c.663delG p.E222fs*114 Del frameshift D 8216300 8216303 1 36 596.085 - - 2 1 1 ARHGEF15|CCDS11139.1|r.815delG|c.663delG|p.E222fs*114|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ARHGEF15|CCDS11139.1|r.815delG|c.663delG|p.E222fs*114|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 8 4 10 18 16 18 16 4 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717070004 17 28113616 TTA T 658 PASS SSH2 CCDS11253.1 r.? - - Del intronic D 28113616 28113620 2 48 638.836 - - 1 1 1 SSH2|CCDS11253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SSH2|CCDS11253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 5 7 7 10 34 41 34 41 7 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717073904 17 38746233 CTA C 900 PASS - - - - - Del - D 38746233 38746237 2 66 811.639 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 10 5 11 9 27 35 27 35 11 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717075970 17 43518161 CTA C 812 PASS PLEKHM1 CCDS32671.1 r.? - - Del intronic D 43518161 43518164 2 77 865.227 - - 1 1 1 PLEKHM1|CCDS32671.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLEKHM1|CCDS32671.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 10 6 11 8 18 18 18 18 11 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717078038 17 47815610 CA C 900 PASS FAM117A CCDS11553.1 r.? - - Del intronic D 47815610 47815614 1 70 811.037 - - 3 1 1 FAM117A|CCDS11553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM117A|CCDS11553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 6 9 9 11 24 33 24 33 9 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717078996 17 50398231 CT C 420 PASS - - - - - Del - D 50398231 50398236 1 20 379.327 - - 4 1 1 - - ./. 0 0 0 0 28 16 28 16 0 0 ./. 4 3 12 6 37 15 37 15 12 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717079005 17 50421272 ATCGCCACACTGTCT A 392 PASS - - - - - Del - D 50421272 50421289 14 60 758.052 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 9 5 9 5 22 25 22 25 9 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717081836 17 58558841 AACTATTCAGATAT A 493 PASS APPBP2 CCDS32699.1 r.? - - Del intronic D 58558841 58558856 13 84 921.223 - - 1 1 1 APPBP2|CCDS32699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APPBP2|CCDS32699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 25 21 25 0 0 ./. 11 6 11 6 33 22 33 22 11 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717083923 17 64248376 CAA C 269 PASS - - - - - Del - D 64248376 64248380 2 10 261.917 - - 3 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 4 1 6 1 27 26 27 26 6 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717086030 17 69854362 GA G 300 PASS - - - - - Del - D 69854362 69854371 1 10 269.744 - - 8 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 1 5 3 24 27 24 27 5 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717087817 17 74438345 TATTAGG T 580 PASS UBE2O CCDS32742.1 r.? - - Del intronic D 74438345 74438354 6 112 1082.59 - - 1 1 1 UBE2O|CCDS32742.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBE2O|CCDS32742.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 7 13 8 15 24 35 24 35 8 15 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717094604 18 10250823 ACATCAG A 261 PASS - - - - - Del - D 10250823 10250831 6 24 472.677 - - 1 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 7 2 11 12 46 37 46 37 11 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717096175 18 14235869 AC A 662 PASS - - - - - Del - D 14235869 14235872 1 48 650.305 - - 2 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 5 7 9 9 27 27 27 27 9 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717096324 18 14611051 ACC A 691 PASS - - - - - Del - D 14611051 14611055 2 120 1083.84 - - 3 1 1 - - ./. 0 0 0 0 20 26 20 26 0 0 ./. 11 9 13 12 34 39 34 39 13 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717096823 18 15289935 G GT 275 PASS - - - - - Ins - I 15289935 15289943 1 18 482.31 - - 7 1 1 - - ./. 0 0 0 0 18 19 20 19 0 0 ./. 1 8 3 13 34 37 34 38 3 13 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717101369 18 31837551 CCTT C 360 PASS - - - - - Del - D 31837551 31837558 3 15 325.153 - - 2 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 2 4 3 4 36 26 36 26 3 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717102501 18 36016208 AACAATACGCTTATTC A 377 PASS - - - - - Del - D 36016208 36016227 15 54 703.895 - - 1 1 1 - - ./. 0 0 0 0 20 28 20 28 0 0 ./. 5 8 5 8 22 35 22 35 5 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717102539 18 36137965 A AC 780 PASS - - - - - Ins - I 36137965 36137971 1 50 695.466 - - 5 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 9 4 12 8 31 28 31 30 12 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717103166 18 38175231 AAGTCCTTATACATTTTATATCTCCAGTATTGGAAATGATGTGAAGGTAAAATACATAACATAGCCAACTGTAAAAAATAACACTGACAATTTAAAAT A 377 PASS - - - - - Del - D 38175231 38175332 97 54 704.497 - - 1 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 5 8 0 0 21 22 26 30 5 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717103811 18 40032783 GC G 720 PASS - - - - - Del - D 40032783 40032785 1 48 650.305 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 7 8 9 32 28 32 28 8 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717105033 18 44404582 GTGAGATATTTTT G 261 PASS PIAS2 CCDS32824.1 r.? - - Del intronic D 44404582 44404597 12 24 487.729 - - 1 1 1 PIAS2|CCDS32824.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIAS2|CCDS32824.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 26 15 26 0 0 ./. 2 7 5 8 17 32 17 32 5 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717105510 18 45972147 TAGTA T 329 PASS - - - - - Del - D 45972147 45972157 4 16 322.744 - - 2 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 3 3 4 5 27 37 27 37 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717105885 18 47165399 GC G 509 PASS - - - - - Del - D 47165399 47165406 1 30 482.912 - - 6 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 4 5 10 6 33 13 33 13 10 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717107225 18 51246160 CA C 420 PASS - - - - - Del - D 51246160 51246167 1 20 379.345 - - 6 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 3 4 3 5 20 31 20 31 3 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717107606 18 52598290 C CA 349 PASS CCDC68 CCDS11959.1 r.? - - Ins intronic I 52598290 52598299 1 12 321.54 - - 8 1 1 CCDC68|CCDS11959.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC68|CCDS11959.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 1 6 3 27 7 27 7 6 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717107925 18 53723733 CA C 540 PASS ENSG00000206129 ENST00000382897 r.? - - Del intronic D 53723733 53723741 1 28 487.729 - - 7 1 1 ENSG00000206129|ENST00000382897|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000206129|ENST00000382897|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 6 3 7 5 23 23 23 23 7 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717108186 18 54535506 T TA 420 PASS WDR7 CCDS11962.1 r.? - - Ins intronic I 54535506 54535514 1 20 375.13 - - 7 1 1 WDR7|CCDS11962.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR7|CCDS11962.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 20 24 20 0 0 ./. 4 3 7 5 27 29 27 29 7 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717112246 18 65608710 TTCAAAAACTA T 348 PASS - - - - - Del - D 65608710 65608724 10 48 649.703 - - 1 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 7 5 7 6 28 24 28 24 7 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717113251 18 68086299 AGGGTTTGTGCTTTATAATCT A 290 PASS AC013558.1 ENST00000511515 r.? - - Del intronic D 68086299 68086321 20 35 540.115 - - 1 1 1 AC013558.1|ENST00000511515|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC013558.1|ENST00000511515|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 14 26 14 0 0 ./. 6 4 5 3 23 19 25 20 7 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717114405 18 71264576 AAATT A 358 PASS - - - - - Del - D 71264576 71264581 4 20 379.345 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 3 6 3 30 24 30 24 6 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717116169 18 76313382 G GA 297 PASS - - - - - Ins - I 76313382 76313391 1 12 267.348 - - 8 1 1 - - ./. 0 0 0 0 19 10 20 10 0 0 ./. 2 3 7 9 33 34 33 34 7 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717118965 19 6296722 TTTTC T 478 PASS - - - - - Del - D 6296722 6296731 4 24 488.255 - - 2 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 7 2 10 3 29 21 29 21 10 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717124954 19 21142803 TA T 300 PASS - - - - - Del - D 21142803 21142810 1 10 269.446 - - 6 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 1 4 2 8 7 27 7 27 2 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717125135 19 21475506 TATA T 389 PASS ZNF708 CCDS32980.1 r.2457_2459delUAU c.? p.? Del 3'UTR variant D 21475506 21475513 3 20 379.151 - - 2 1 1 ZNF708|CCDS32980.1|r.2457_2459delUAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ZNF708|CCDS32980.1|r.2457_2459delUAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 4 4 4 24 31 24 31 4 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717126062 19 23563292 GC G 518 PASS ZNF91 CCDS42541.1 r.? - - Del intronic D 23563292 23563296 1 15 759.507 - - 3 1 1 ZNF91|CCDS42541.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF91|CCDS42541.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 20 0 0 ./. 0 14 0 1 25 22 25 38 0 15 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717126830 19 27744848 TA T 960 PASS - - - - - Del - D 27744848 27744854 1 80 865.6 - - 5 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 9 7 11 10 26 19 26 19 11 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717128110 19 31482348 AT A 480 PASS - - - - - Del - D 31482348 31482352 1 21 433.402 - - 3 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 2 6 2 7 31 42 31 42 2 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717128175 19 31740299 TGCAGTCCTTG T 290 PASS - - - - - Del - D 31740299 31740313 10 32 533.474 - - 1 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 7 3 8 3 36 14 36 14 8 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717130490 19 37202977 CCTGCT C 447 PASS ZNF567 CCDS12495.1 r.? - - Del intronic D 37202977 37202986 5 28 484.642 - - 1 1 1 ZNF567|CCDS12495.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF567|CCDS12495.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 6 3 6 3 35 31 35 31 6 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717135544 19 49293216 GT G 358 PASS - - - - - Del - D 49293216 49293218 1 8 347.844 - - 1 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 7 0 7 0 22 20 22 20 7 0 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717137673 19 54228654 AG A 900 PASS MIR520G ENST00000385064 r.? - - Del downstream D 54228654 54228656 1 70 813.758 - - 1 1 1 MIR520G|ENST00000385064|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 MIR518E|ENST00000385252|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 25 15 25 15 0 0 ./. 9 6 14 6 30 28 30 28 14 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717139993 2 476788 AAGGAAAAATTAAAACTTTCTACTTGCAGATGGCATGACTGTCTATGTGTGAAATCCCT A 261 PASS - - - - - Del - D 476788 476848 58 28 483.236 - - 1 1 1 - - ./. 0 0 0 0 29 22 29 22 0 0 ./. 6 3 0 0 36 40 42 43 6 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717140865 2 3022847 TA T 360 PASS - - - - - Del - D 3022847 3022851 1 12 322.559 - - 3 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 5 1 5 3 34 35 34 35 5 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717141107 2 3795084 CCGTTAGTGGCAGCTGCTTGCCCCAGTGGA C 609 PASS ENSG00000214866 ENST00000423741 r.? - - Del intronic D 3795084 3795117 29 130 1128.35 - - 1 1 1 ENSG00000214866|ENST00000423741|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000214866|ENST00000423741|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 12 9 11 6 30 23 30 26 12 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717144825 2 14133486 TCCTTCTCTTCCTGGAAGAGATATGG TTGAAA 261 PASS - - - - - Complex - DI 14133487 14133511 25 30 0 - - 0 1 1 - - ./. 0 0 0 0 28 23 28 23 0 0 ./. 5 4 0 0 43 31 46 32 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717145634 2 16570453 ATCTG A 420 PASS - - - - - Del - D 16570453 16570461 4 20 376.318 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 3 5 7 26 51 26 51 5 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717150277 2 30035778 TAC T 1049 PASS ALK CCDS33172.1 r.? - - Del intronic D 30035778 30035784 2 96 965.267 - - 2 1 1 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 12 23 12 0 0 ./. 11 7 16 7 40 34 40 34 16 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717154906 2 42243990 GCTGGGCACGGTGGCTCATGC G 406 PASS - - - - - Del - D 42243990 42244014 20 63 750.83 - - 1 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 8 6 8 4 31 23 31 25 8 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717154955 2 42354369 G GT 358 PASS - - - - - Ins - I 42354369 42354375 1 20 372.104 - - 5 1 1 - - ./. 0 0 0 0 27 15 27 15 0 0 ./. 3 4 4 4 33 28 34 29 4 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717158152 2 50901716 TGGAAAATGGTATGT TTCA 394 PASS NRXN1 CCDS46282.1 r.? - - Complex intronic DI 50901717 50901730 14 60 0 - - 0 1 1 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 9 5 0 0 36 29 37 29 9 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717158594 2 52367950 TTTGTTTTGGCCA T 290 PASS - - - - - Del - D 52367950 52367963 12 36 537.598 - - 1 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 5 5 5 5 20 23 20 23 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717159037 2 53914005 CT C 869 PASS ASB3 CCDS1847.1 r.? - - Del intronic D 53914005 53914008 1 72 800.978 - - 2 1 1 ASB3|CCDS1847.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASB3|CCDS1847.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 7 8 9 9 29 31 29 31 9 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717159326 2 54436299 AT A 300 PASS ACYP2 CCDS1850.1 r.? - - Del intronic D 54436299 54436305 1 12 268.799 - - 5 1 1 ACYP2|CCDS1850.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACYP2|CCDS1850.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 21 14 21 0 0 ./. 3 2 3 3 22 35 22 35 3 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717162061 2 62372422 GCCCCCAACT G 319 PASS AC107081.2 ENST00000506268 r.? - - Del intronic D 62372422 62372435 9 42 591.357 - - 1 1 1 AC107081.2|ENST00000506268|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC107081.2|ENST00000506268|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 23 16 23 0 0 ./. 5 6 6 6 35 38 35 38 6 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717166242 2 75462163 TGGTCTAATA T 435 PASS - - - - - Del - D 75462163 75462174 9 72 805.192 - - 1 1 1 - - ./. 0 0 0 0 22 11 22 11 0 0 ./. 7 8 8 8 35 33 35 33 8 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717166346 2 75762917 AGAGG A 300 PASS FAM176A CCDS1959.1 r.? - - Del intronic D 75762917 75762925 4 12 268.799 - - 1 1 1 FAM176A|CCDS1959.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM176A|CCDS1959.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 2 3 3 36 25 36 25 3 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717166893 2 77329761 CAAGAAACTCTTCTGT C 319 PASS LRRTM4 CCDS46346.1 r.? - - Del intronic D 77329761 77329781 15 42 590.755 - - 1 1 1 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 13 23 13 0 0 ./. 6 5 6 5 32 30 32 30 6 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717167065 2 77839185 A AG 720 PASS - - - - - Ins - I 77839185 77839191 1 48 628.861 - - 5 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 5 7 8 12 21 42 21 43 8 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717167225 2 78461552 G GA 480 PASS - - - - - Ins - I 78461552 78461559 1 16 425.262 - - 6 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 1 7 4 7 37 38 38 39 4 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717167239 2 78531845 GTAGGCACATGGATGCCTCATAGGCAGTGAGACTGCTTCA G 551 PASS - - - - - Del - D 78531845 78531888 39 108 1019.03 - - 1 1 1 - - ./. 0 0 0 0 24 18 24 18 0 0 ./. 8 11 6 5 18 25 20 31 8 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717167926 2 80519899 ATGT A 420 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 80519899 80519906 3 20 376.318 - - 2 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 26 14 26 0 0 ./. 3 4 5 4 28 39 28 39 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717173428 2 99185276 CAG C 300 PASS INPP4A CCDS46369.1 r.? - - Del intronic D 99185276 99185292 2 10 268.799 - - 7 1 1 INPP4A|CCDS46369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INPP4A|CCDS46369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 1 4 2 4 28 37 28 37 2 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717174270 2 101651770 CTTTGCTCCAAGGAGCAAGT C 261 PASS TBC1D8 CCDS46375.1 r.? - - Del intronic D 101651770 101651790 19 30 483.838 - - 1 1 1 TBC1D8|CCDS46375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D8|CCDS46375.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 19 6 19 0 0 ./. 4 5 4 3 30 32 30 34 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717175377 2 105594154 AT A 360 PASS - - - - - Del - D 105594154 105594160 1 16 322.559 - - 5 1 1 - - ./. 0 0 0 0 14 23 14 23 0 0 ./. 3 3 3 3 32 24 32 24 3 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717175842 2 106747319 T TA 261 PASS UXS1 CCDS46378.1 r.? - - Ins intronic I 106747319 106747320 1 12 265.788 - - 0 1 1 UXS1|CCDS46378.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UXS1|CCDS46378.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 19 14 19 0 0 ./. 2 3 3 8 17 25 17 25 3 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717176072 2 107520289 TCTATTGAGTCTTCTAATCCATAA TTCTTGACTCTATTGTC 319 PASS - - - - - Complex - DI 107520290 107520312 23 42 0 - - 0 1 1 - - ./. 0 0 0 0 24 16 24 16 0 0 ./. 6 5 0 0 14 25 16 25 6 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717176209 2 108198017 TGCACCCTGCA T 261 PASS - - - - - Del - D 108198017 108198031 10 30 483.838 - - 1 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 5 4 5 4 28 31 28 31 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717176267 2 108372367 GAATATCTTTTGGGAGGGGGGCATTTTTT G 435 PASS - - - - - Del - D 108372367 108372398 28 66 805.192 - - 1 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 10 5 9 2 21 15 22 18 10 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717176500 2 109259898 CCATG C 360 PASS LIMS1 CCDS2078.1 r.? - - Del intronic D 109259898 109259905 4 16 315.936 - - 1 1 1 LIMS1|CCDS2078.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LIMS1|CCDS2078.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 3 4 3 24 18 24 18 4 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717176630 2 109592760 G GT 900 PASS EDAR CCDS2081.1 r.? - - Ins intronic I 109592760 109592766 1 72 795.559 - - 5 1 1 EDAR|CCDS2081.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 EDAR|CCDS2081.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 24 20 24 0 0 ./. 8 7 10 9 31 27 31 27 10 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717178642 2 116927172 T TA 540 PASS - - - - - Ins - I 116927172 116927181 1 18 478.419 - - 8 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 1 8 7 9 34 31 35 31 7 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717178648 2 116940207 TTTTAACTTCGTGTGATCCCG T 377 PASS - - - - - Del - D 116940207 116940231 20 56 697.071 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 6 7 7 6 19 26 19 27 7 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717181398 2 126628636 C CT 360 PASS - - - - - Ins - I 126628636 126628641 1 15 318.344 - - 4 1 1 - - ./. 0 0 0 0 23 24 23 24 0 0 ./. 4 2 5 5 36 28 36 28 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717185137 2 137580979 G GT 540 PASS THSD7B ENST00000409968 r.? - - Ins intronic I 137580979 137580985 1 28 478.419 - - 5 1 1 THSD7B|ENST00000409968|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 THSD7B|ENST00000409968|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 15 23 15 0 0 ./. 6 3 6 3 31 30 31 30 6 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717187930 2 146690559 TAC T 300 PASS - - - - - Del - D 146690559 146690577 2 12 268.799 - - 8 1 - - - ./. 0 0 0 0 25 22 25 22 0 0 ./. 2 3 2 4 31 32 31 32 2 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717188350 2 148352263 GCA G 300 PASS - - - - - Del - D 148352263 148352274 2 10 268.799 - - 5 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 1 4 2 4 23 24 23 24 2 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717197557 2 177960100 GGGAGGGGAGCCAGT G 377 PASS - - - - - Del - D 177960100 177960116 14 44 695.265 - - 1 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 10 3 11 3 31 26 31 26 11 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717197789 2 178580141 ATCTGGAGAATCAATTTCT A 348 PASS PDE11A CCDS42786.1 r.? - - Del intronic D 178580141 178580162 18 49 645.117 - - 1 1 1 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 6 7 7 19 27 19 28 7 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717198810 2 182184746 AT A 420 PASS - - - - - Del - D 182184746 182184748 1 14 375.114 - - 1 1 1 - - ./. 0 0 0 0 27 16 27 16 0 0 ./. 1 6 2 7 28 41 28 41 2 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717199593 2 184691187 AGCTCTGCT AAGCAGAG 580 PASS - - - - - Complex - DI 184691188 184691195 8 120 0 - - 0 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 11 9 0 0 40 29 40 29 11 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717199867 2 185493716 CTTTTTTCAT C 290 PASS ZNF804A CCDS2291.1 r.? - - Del intronic D 185493716 185493727 9 32 537.598 - - 1 1 1 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 7 3 8 5 28 31 28 31 8 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717202371 2 194010614 TTAAA T 329 PASS - - - - - Del - D 194010614 194010626 4 16 322.559 - - 2 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 3 3 4 3 27 31 27 31 4 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717202372 2 194012043 GA G 540 PASS - - - - - Del - D 194012043 194012047 1 28 480.828 - - 3 1 1 - - ./. 0 0 0 0 21 24 21 24 0 0 ./. 6 3 9 6 31 24 31 24 9 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717203335 2 197261179 ATTCCC A 623 PASS HECW2 CCDS33354.1 r.? - - Del intronic D 197261179 197261186 5 64 752.637 - - 1 1 1 HECW2|CCDS33354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HECW2|CCDS33354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 7 7 7 8 20 24 20 24 7 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717207474 2 210315264 AT A 420 PASS MAP2 CCDS33369.1 r.? - - Del intronic D 210315264 210315270 1 18 376.318 - - 5 1 1 MAP2|CCDS33369.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAP2|CCDS33369.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 5 2 5 28 20 28 20 2 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717208813 2 214699479 ATCATTTTCTGAG A 261 PASS SPAG16 CCDS2396.1 r.? - - Del intronic D 214699479 214699494 12 24 483.838 - - 1 1 1 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 25 16 25 0 0 ./. 2 7 2 7 16 22 16 22 2 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717208992 2 215158500 GTGGCAGCTCTGGTAGCAGTGGCCCCAGGGCAGAA G 261 PASS SPAG16 CCDS2396.1 r.? - - Del intronic D 215158500 215158537 34 28 483.838 - - 1 1 1 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 19 22 19 0 0 ./. 6 3 1 3 28 18 33 18 6 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717210037 2 218102917 TAATATTTCTAGTGTTTTTACACTGTAATCAGAGAGTGTTCTTTATA T 406 PASS - - - - - Del - D 218102917 218102965 46 55 752.035 - - 1 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 4 10 1 3 13 16 16 23 4 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717211340 2 222134659 AAATTTAAAATAAATTTTATACCAAAGCAAGCATAAT A 278 PASS - - - - - Del - D 222134659 222134697 36 32 535.791 - - 1 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 3 7 1 4 18 28 20 31 3 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717220452 20 6310925 AT A 900 PASS - - - - - Del - D 6310925 6310935 1 70 811.705 - - 9 1 1 - - ./. 0 0 0 0 20 35 20 35 0 0 ./. 6 9 8 14 38 34 38 34 8 14 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717220678 20 7034374 ATCCATGATA AATC 406 PASS - - - - - Complex - DI 7034375 7034383 9 63 0 - - 0 1 1 - - ./. 0 0 0 0 20 22 20 22 0 0 ./. 8 6 0 0 30 25 30 25 8 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717221367 20 9458000 GAATTGCCTCAGACAAATGAGAATGAATGGTCACCCAACTCATATAAGAACTTAGCTGTTGGAATAGTCTTGTAATGTCCTATGATTCTTCCTTCTACACCGTGGTCAATACTTTCTTCAGAAGCTAAAGGGGGACAAGCACAGAGAATCATTTGCTACTATTTACCGAACTTGGAAGTATTTAATTTCCA GATAATATGCTGGATAAT 522 PASS PLCB4 CCDS13104.1 r.? - - Complex intronic DI 9458001 9458190 190 99 0 - - 0 1 1 PLCB4|CCDS13104.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 PLCB4|CCDS13104.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 8 10 0 0 21 32 29 42 8 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717221861 20 11054794 TTTTGCCCTTTC T 290 PASS - - - - - Del - D 11054794 11054809 11 35 541.337 - - 1 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 4 6 4 6 38 40 38 40 4 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717223129 20 14652077 A AT 420 PASS MACROD2 CCDS13120.2 r.? - - Ins intronic I 14652077 14652086 1 20 375.986 - - 8 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 19 27 19 0 0 ./. 4 3 6 6 31 41 31 41 6 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717224557 20 18731502 TTGACTTAGCTGCTGTAATTAGGGTGTGAGAGGAGTGTGCTCC T 406 PASS DTD1 CCDS13138.1 r.? - - Del intronic D 18731502 18731550 42 60 759.799 - - 1 1 1 DTD1|CCDS13138.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 DTD1|CCDS13138.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 5 9 1 6 29 28 33 31 5 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717226159 20 24983370 CCGAG C 481 PASS ACSS1 CCDS13167.1 r.? - - Del downstream D 24983370 24983375 4 42 596.856 - - 1 1 1 ACSS1|CCDS13167.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ACSS1|CCDS13167.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 6 5 7 26 27 26 27 5 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717232576 20 42426021 AACT AGG 1136 PASS - - - - - Complex - DI 42426022 42426024 3 120 0 - - 0 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 7 14 0 0 31 42 31 42 7 14 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717234365 20 47471571 ATAACATACTTAAAG A 435 PASS - - - - - Del - D 47471571 47471587 14 70 784.01 - - 1 1 1 - - ./. 0 0 0 0 17 24 17 24 0 0 ./. 6 9 7 10 30 35 30 35 7 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717237787 20 55882734 TTTCCTCATCTGCTAA T 377 PASS - - - - - Del - D 55882734 55882752 15 50 705.484 - - 1 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 9 4 9 23 27 23 27 4 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717247581 21 24493460 T TC 360 PASS - - - - - Ins - I 24493460 24493461 1 7 314.446 - - 0 1 - - - ./. 0 0 0 0 15 1 15 1 0 0 ./. 6 0 11 0 24 0 24 0 11 0 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717247582 21 24493847 CCCAAGGTAATCACATATGTAATTTACTGTTACTTAACAAGGAGTGCATTTATTTTTTAATGTTCACGTACGTGTCTGAGCATCACTTTCTAGAAATTCTGTTTAGTAGCACAGTGTGTAATTTTAAATATAAGCTTGTTATTATTTTTAGTTGGGAGAGATTAGGAGACAAATTTCCTCTAAGATTCCTTTAAAACAG C 493 PASS - - - - - Del - D 24493847 24494051 198 90 923.341 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 9 8 0 0 21 25 30 33 9 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717248498 21 26642897 C CT 420 PASS - - - - - Ins - I 26642897 26642899 1 20 375.383 - - 1 1 1 - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 3 4 5 7 39 45 39 45 5 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717249283 21 28389913 AC A 900 PASS - - - - - Del - D 28389913 28389916 1 72 813.508 - - 2 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 8 7 12 9 32 34 32 34 12 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717250188 21 30454252 CGAGCCTGCTTACGTACAATATTGAACCCAGTCCTGATTCTTATGTAGAATTTGCATCTTAACACCAGTGCAAAGACCTGGGTTTGATAAGTTAAATGGTTATTTCAAAAT C 464 PASS C21orf7 CCDS13584.1 r.? - - Del intronic D 30454252 30454365 110 77 869.026 - - 1 1 1 C21orf7|CCDS13584.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C21orf7|CCDS13584.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 15 22 15 0 0 ./. 6 10 0 0 25 21 31 31 6 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717252724 21 36796396 TC T 1020 PASS - - - - - Del - D 36796396 36796399 1 88 919.728 - - 2 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 10 7 11 9 41 31 41 31 11 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717254120 21 39917721 AG A 420 PASS ERG CCDS13657.1 r.? - - Del intronic D 39917721 39917723 1 20 380.199 - - 1 1 1 ERG|CCDS13657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERG|CCDS13657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 16 21 16 0 0 ./. 3 4 5 4 35 33 35 33 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717255001 21 42029675 TATTTGTTTTGTGTATATACAAGAGA T 261 PASS DSCAM CCDS42929.1 r.? - - Del intronic D 42029675 42029705 25 28 485.215 - - 1 1 1 DSCAM|CCDS42929.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DSCAM|CCDS42929.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 6 3 4 26 27 26 29 3 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717255855 21 44232730 G GT 900 PASS - - - - - Ins - I 44232730 44232739 1 72 805.681 - - 8 1 1 - - ./. 0 0 0 0 23 11 23 11 0 0 ./. 8 7 11 11 32 42 32 42 11 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717257625 22 16999329 TG T 811 PASS - - - - - Del - D 16999329 16999334 1 72 816.373 - - 4 1 1 - - ./. 0 0 0 0 34 20 34 20 0 0 ./. 7 8 8 11 54 44 54 44 8 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717262200 22 30048163 A AC 420 PASS NF2 CCDS13861.1 r.? - - Ins intronic I 30048163 30048171 1 20 378.164 - - 7 1 1 NF2|CCDS13861.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NF2|CCDS13861.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 22 10 25 0 0 ./. 3 4 7 7 17 20 17 21 7 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717269253 3 2180535 TTC T 420 PASS CNTN4 CCDS43041.1 r.? - - Del intronic D 2180535 2180553 2 20 376.898 - - 8 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 4 3 6 44 51 44 51 3 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717275472 3 17823943 TGATTAAAAAAAGTTTACA T 522 PASS - - - - - Del - D 17823943 17823964 18 91 966.155 - - 1 1 1 - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 12 6 11 5 41 36 42 37 12 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717275664 3 18505979 GTTTTTCAT G 406 PASS - - - - - Del - D 18505979 18505992 8 60 753.795 - - 1 1 1 - - ./. 0 0 0 0 24 22 24 22 0 0 ./. 9 5 11 6 50 29 50 29 11 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717278261 3 25778358 ACAAGACCTAGTGTTTGATAGATCAATAGGGTGTTTACAGTTTACAATAATC A 348 PASS NGLY1 CCDS46778.1 r.? - - Del intronic D 25778358 25778412 51 45 646.11 - - 1 1 1 NGLY1|CCDS46778.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NGLY1|CCDS46778.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 8 4 0 1 28 28 36 31 8 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717278281 3 25815538 AC A 960 PASS NGLY1 CCDS46778.1 r.? - - Del intronic D 25815538 25815541 1 65 860.276 - - 2 1 1 NGLY1|CCDS46778.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NGLY1|CCDS46778.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 23 19 23 0 0 ./. 12 4 18 5 41 23 41 23 18 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717279246 3 28862206 TTTCAGCTGGACATAGCTGTTTTGGGGGACCGCTA T 290 PASS - - - - - Del - D 28862206 28862244 34 35 538.425 - - 1 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 6 4 1 2 23 33 28 35 6 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717279411 3 29327551 TC T 840 PASS RBMS3 CCDS33725.1 r.? - - Del intronic D 29327551 29327554 1 64 753.193 - - 2 1 1 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 7 7 10 16 30 40 30 40 10 16 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717279520 3 29660121 AGTTCTT A 348 PASS RBMS3 CCDS33725.1 r.? - - Del intronic D 29660121 29660132 6 48 640.089 - - 1 1 1 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 20 17 20 0 0 ./. 5 7 5 7 26 31 26 31 5 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717281624 3 35291522 C CA 449 PASS - - - - - Ins - I 35291522 35291530 1 25 425.924 - - 7 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 4 4 7 6 31 30 32 30 7 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717282120 3 36959281 AATGTTTACTCTTTTC A 377 PASS - - - - - Del - D 36959281 36959300 15 56 699.351 - - 1 1 1 - - ./. 0 0 0 0 15 24 15 24 0 0 ./. 7 6 7 6 37 45 37 45 7 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717283004 3 39553231 TC T 300 PASS MOBP CCDS2687.1 r.? - - Del intronic D 39553231 39553238 1 12 269.213 - - 6 1 1 MOBP|CCDS2687.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MOBP|CCDS2687.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 3 3 4 31 26 31 26 3 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717283241 3 40251760 CAATCAGGAA C 348 PASS MYRIP CCDS2689.1 r.? - - Del intronic D 40251760 40251772 9 40 646.11 - - 1 1 1 MYRIP|CCDS2689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYRIP|CCDS2689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 9 3 9 3 43 34 43 34 9 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717285577 3 47035222 GAGCTGCTCAGAGAGGGCCCTAGGTCA G 348 PASS NBEAL2 CCDS46817.1 r.? - - Del intronic D 47035222 47035249 26 40 646.11 - - 1 1 1 NBEAL2|CCDS46817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NBEAL2|CCDS46817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 9 3 8 3 32 31 34 31 10 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717287133 3 50984541 G GT 360 PASS DOCK3 CCDS46835.1 r.? - - Ins intronic I 50984541 50984551 1 7 310.412 - - 9 1 1 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 23 18 23 0 0 ./. 0 6 1 9 22 41 22 41 1 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717288261 3 54519923 A AC 1320 PASS CACNA2D3 ENST00000474759 r.? - - Ins intronic I 54519923 54519930 1 140 1169.48 - - 6 1 1 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 13 9 14 13 32 37 33 37 14 13 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717288858 3 56419437 GGTGGTGAGTGGATGGAAAATACAGCCAAA G 319 PASS ERC2 CCDS46851.1 r.? - - Del intronic D 56419437 56419469 29 36 592.268 - - 1 1 1 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 8 3 6 40 41 40 43 3 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717288872 3 56460027 ACACAGCTC A 406 PASS ERC2 CCDS46851.1 r.? - - Del intronic D 56460027 56460039 8 55 753.193 - - 1 1 1 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 20 15 20 0 0 ./. 4 10 4 11 19 45 19 45 4 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717289927 3 59457939 AG A 840 PASS - - - - - Del - D 59457939 59457941 1 63 753.795 - - 1 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 8 6 12 6 26 24 26 24 12 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717290099 3 60013410 T TC 720 PASS FHIT CCDS2894.1 r.? - - Ins intronic I 60013410 60013412 1 48 638.885 - - 1 1 1 FHIT|CCDS2894.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FHIT|CCDS2894.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 5 7 8 11 23 40 23 40 8 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717291438 3 63800553 TA T 480 PASS C3orf49 ENST00000295896 r.? - - Del upstream D 63800553 63800562 1 25 430.74 - - 8 1 1 C3orf49|ENST00000295896|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 C3orf49|ENST00000295896|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 21 8 21 8 0 0 ./. 4 4 8 6 33 36 33 36 8 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717294507 3 73194041 GGACGTATGGCCACCTA G 261 PASS AC103560.1 ENST00000509224 r.? - - Del intronic D 73194041 73194060 16 28 484.583 - - 1 1 1 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 19 23 19 0 0 ./. 6 3 6 3 26 23 26 23 6 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717296722 3 76109459 G GA 900 PASS ROBO2 ENST00000487694 r.? - - Ins intronic I 76109459 76109467 1 42 798.005 - - 7 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 20 25 20 0 0 ./. 13 2 14 2 35 29 35 29 14 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717298536 3 81730793 CTGGTTTTCAACAAGGATGGTTCAA C 638 PASS GBE1 ENST00000429644 r.? - - Del intronic D 81730793 81730829 24 128 1182.73 - - 1 1 1 GBE1|ENST00000429644|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GBE1|ENST00000429644|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 15 7 12 6 57 30 60 31 15 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717301096 3 89975049 GTTGCAAAGAGAGC G 319 PASS - - - - - Del - D 89975049 89975065 13 42 591.666 - - 1 1 1 - - ./. 0 0 0 0 24 13 24 13 0 0 ./. 6 5 6 4 32 25 32 26 6 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717304528 3 103973255 T TA 480 PASS - - - - - Ins - I 103973255 103973262 1 24 425.322 - - 6 1 1 - - ./. 0 0 0 0 17 23 17 23 0 0 ./. 5 3 7 3 36 31 36 32 7 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717305420 3 106461367 GC G 300 PASS - - - - - Del - D 106461367 106461369 1 12 269.213 - - 1 1 1 - - ./. 0 0 0 0 18 22 18 22 0 0 ./. 3 2 4 2 26 27 26 27 4 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717305931 3 107996359 AGAGAGAAT A 261 PASS - - - - - Del - D 107996359 107996372 8 30 483.378 - - 1 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 4 5 5 5 37 40 37 40 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717306852 3 110215335 GA G 720 PASS - - - - - Del - D 110215335 110215340 1 45 644.906 - - 4 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 8 4 15 8 39 25 39 25 15 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717309322 3 117833346 T TA 480 PASS - - - - - Ins - I 117833346 117833352 1 24 425.924 - - 5 1 1 - - ./. 0 0 0 0 19 16 19 17 0 0 ./. 3 5 7 10 23 29 23 30 7 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717309595 3 118744520 A ATGG 318 PASS IGSF11 CCDS2983.1 r.? - - Ins intronic I 118744520 118744524 3 15 312.218 - - 1 1 1 IGSF11|CCDS2983.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IGSF11|CCDS2983.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 13 20 15 0 0 ./. 4 2 4 2 39 35 39 36 4 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717312538 3 127100647 AGGCTAAAAAGGAG A 290 PASS - - - - - Del - D 127100647 127100665 13 32 537.823 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 7 3 7 3 34 19 34 19 7 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717312561 3 127208340 AAGGGGCAGCAAG A 406 PASS ENSG00000230883 ENST00000455379 r.? - - Del intronic D 127208340 127208356 12 60 748.979 - - 1 1 1 ENSG00000230883|ENST00000455379|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000230883|ENST00000455379|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 15 25 15 0 0 ./. 5 9 5 9 20 29 20 29 5 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717314755 3 135043603 A AC 420 PASS - - - - - Ins - I 135043603 135043604 1 20 368.469 - - 0 1 - - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 3 4 5 6 26 28 26 29 5 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717316453 3 140779635 A AT 480 PASS SPSB4 CCDS3115.1 r.? - - Ins intronic I 140779635 140779643 1 24 425.924 - - 7 1 1 SPSB4|CCDS3115.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SPSB4|CCDS3115.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 24 24 24 0 0 ./. 3 5 7 5 36 37 36 38 7 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717320602 3 153454980 GCAT G 420 PASS - - - - - Del - D 153454980 153454986 3 18 376.898 - - 1 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 2 5 3 7 18 24 18 24 3 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717321265 3 156127244 GC G 300 PASS KCNAB1 CCDS33882.1 r.? - - Del intronic D 156127244 156127246 1 12 269.213 - - 1 1 1 KCNAB1|CCDS33882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNAB1|CCDS33882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 17 22 17 0 0 ./. 3 2 6 4 30 24 30 24 6 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717324268 3 166778912 AGAGAG A 294 PASS - - - - - Del - D 166778912 166778918 5 24 430.74 - - 1 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 3 5 5 8 31 27 31 27 5 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717324749 3 168872015 AAC A 360 PASS MECOM ENST00000494292 r.? - - Del intronic D 168872015 168872031 2 16 323.055 - - 7 1 1 MECOM|ENST00000494292|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MECOM|ENST00000494292|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 3 3 2 23 31 23 31 3 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717331650 3 191494855 GTATTTCCCA G 319 PASS - - - - - Del - D 191494855 191494867 9 42 592.268 - - 1 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 6 5 7 36 30 36 30 5 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717335571 4 4436914 CTTAAAGTATGTT C 377 PASS STX18 CCDS3377.1 r.? - - Del intronic D 4436914 4436930 12 56 699.614 - - 1 1 1 STX18|CCDS3377.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STX18|CCDS3377.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 7 6 7 7 24 39 24 39 7 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717337493 4 10539101 C CA 660 PASS CLNK CCDS47024.1 r.? - - Ins intronic I 10539101 10539109 1 30 585.358 - - 7 1 1 CLNK|CCDS47024.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLNK|CCDS47024.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 2 9 2 9 17 27 17 27 2 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717340205 4 19179988 C CA 840 PASS - - - - - Ins - I 19179988 19179995 1 64 744.399 - - 6 1 1 - - ./. 0 0 0 0 29 20 30 20 0 0 ./. 7 7 10 8 36 26 37 26 10 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717341464 4 23389279 AT A 600 PASS - - - - - Del - D 23389279 23389286 1 27 538.164 - - 6 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 8 2 11 2 39 22 39 22 11 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717342105 4 25090135 GCCGCGATGGGTCCCAGTCATTAA G 510 PASS - - - - - Del - D 25090135 25090160 23 96 967.492 - - 1 1 1 - - ./. 0 0 0 0 18 25 18 25 0 0 ./. 11 7 9 7 21 30 24 30 12 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717342922 4 27406841 AATCAACAGAGTCTCCAT A 522 PASS - - - - - Del - D 27406841 27406863 17 99 968.696 - - 1 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 8 10 8 9 29 26 29 27 8 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717343954 4 30193311 CTCAAAATATTTTCTTAG C 377 PASS ENSG00000237496 ENST00000424014 r.? - - Del intronic D 30193311 30193333 17 54 699.614 - - 1 1 1 ENSG00000237496|ENST00000424014|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237496|ENST00000424014|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 11 23 11 0 0 ./. 5 8 5 9 24 29 24 29 5 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717344924 4 33004053 GCAATCCAAGCCTCTGATAAAATAGACTT G 348 PASS - - - - - Del - D 33004053 33004085 28 49 645.797 - - 1 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 6 6 6 4 22 31 23 33 7 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717354095 4 58259823 TC T 509 PASS - - - - - Del - D 58259823 58259828 1 28 483.746 - - 4 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 3 6 4 7 43 26 43 26 4 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717354284 4 58752768 GA G 277 PASS - - - - - Del - D 58752768 58752774 1 12 268.48 - - 5 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 2 3 2 5 33 44 33 44 2 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717355249 4 61416788 A AT 900 PASS - - - - - Ins - I 61416788 61416795 1 72 798.215 - - 6 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 8 7 8 11 38 37 38 37 8 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717357862 4 68740383 CAATA C 480 PASS TMPRSS11D CCDS3518.1 r.? - - Del intronic D 68740383 68740394 4 21 430.531 - - 2 1 1 TMPRSS11D|CCDS3518.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMPRSS11D|CCDS3518.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 6 2 8 2 36 14 36 14 8 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717360170 4 75723928 TA T 780 PASS BTC CCDS3566.1 r.? - - Del upstream D 75723928 75723930 1 44 696.603 - - 1 1 1 BTC|CCDS3566.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 BTC|CCDS3566.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 23 17 23 17 0 0 ./. 10 3 11 8 35 34 35 34 11 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717361753 4 80050471 A AT 480 PASS - - - - - Ins - I 80050471 80050481 1 21 425.113 - - 9 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 6 6 7 30 31 31 31 6 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717363903 4 87361829 TA T 449 PASS MAPK10 CCDS43247.1 r.? - - Del intronic D 87361829 87361834 1 25 388.387 - - 4 1 1 MAPK10|CCDS43247.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAPK10|CCDS43247.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 4 4 8 4 32 24 32 24 8 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717366087 4 94246166 GT G 554 PASS GRID2 CCDS3637.1 r.? - - Del intronic D 94246166 94246173 1 143 1182.76 - - 6 1 1 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 19 27 19 0 0 ./. 10 12 12 12 42 34 42 37 12 15 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717366665 4 95963571 C CA 903 PASS BMPR1B ENST00000515059 r.? - - Ins intronic I 95963571 95963580 1 72 846.011 - - 8 1 1 BMPR1B|ENST00000515059|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BMPR1B|ENST00000515059|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 16 19 17 0 0 ./. 5 11 6 11 31 26 35 27 6 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717367425 4 98787995 CAG C 689 PASS C4orf37 CCDS3645.1 r.? - - Del intronic D 98787995 98787999 2 40 645.797 - - 1 1 1 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 9 3 13 5 34 26 34 26 13 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717372519 4 115814740 ATG A 661 PASS NDST4 CCDS3706.1 r.? - - Del intronic D 115814740 115814746 2 33 645.797 - - 2 1 1 NDST4|CCDS3706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NDST4|CCDS3706.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 26 20 26 0 0 ./. 2 10 2 14 24 35 24 35 2 14 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717372907 4 117537143 GGGGTGCACTGGCGCAATCTCAGATCTTGGCTCACTGCAACCTCCTCTTCCT G 290 PASS - - - - - Del - D 117537143 117537199 51 27 538.164 - - 1 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 8 2 0 0 20 13 28 15 8 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717376661 4 128170547 CA C 1078 PASS - - - - - Del - D 128170547 128170549 1 108 1022.51 - - 1 1 1 - - ./. 0 0 0 0 24 12 24 12 0 0 ./. 11 8 17 8 45 36 45 36 17 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717376892 4 128988878 TC T 315 PASS LARP1B CCDS3738.1 r.? - - Del intronic D 128988878 128988880 1 7 312.664 - - 1 1 1 LARP1B|CCDS3738.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LARP1B|CCDS3738.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 6 0 8 0 24 33 24 33 8 0 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717376950 4 129094263 TTATGA T 447 PASS LARP1B CCDS3738.1 r.? - - Del intronic D 129094263 129094270 5 30 484.348 - - 1 1 1 LARP1B|CCDS3738.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LARP1B|CCDS3738.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 16 25 16 0 0 ./. 5 4 8 7 20 19 20 19 8 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717377580 4 130977044 TA T 780 PASS - - - - - Del - D 130977044 130977046 1 56 698.409 - - 1 1 1 - - ./. 0 0 0 0 18 23 18 23 0 0 ./. 7 6 12 9 26 29 26 29 12 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717378502 4 133469094 AGAACTT A 290 PASS - - - - - Del - D 133469094 133469103 6 32 533.348 - - 1 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 7 4 7 11 21 11 21 4 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717385509 4 156489586 TA T 300 PASS - - - - - Del - D 156489586 156489591 1 12 269.082 - - 4 1 1 - - ./. 0 0 0 0 24 30 24 30 0 0 ./. 3 2 4 4 25 29 25 29 4 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717387086 4 161304324 AT A 389 PASS - - - - - Del - D 161304324 161304329 1 20 376.113 - - 4 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 3 4 8 33 31 33 31 4 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717389184 4 166959649 A AT 480 PASS TLL1 CCDS3811.1 r.? - - Ins intronic I 166959649 166959650 1 25 425.715 - - 0 1 1 TLL1|CCDS3811.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TLL1|CCDS3811.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 29 22 30 22 0 0 ./. 4 4 6 8 25 29 25 29 6 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717389594 4 168230615 AAAT A 358 PASS - - - - - Del - D 168230615 168230623 3 20 376.715 - - 2 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 3 5 4 27 26 27 26 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717390372 4 170406013 A AG 300 PASS NEK1 CCDS47162.1 r.? - - Ins intronic I 170406013 170406017 1 10 265.47 - - 3 1 1 NEK1|CCDS47162.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NEK1|CCDS47162.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 1 4 1 36 36 37 36 4 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717392060 4 175771589 A AT 629 PASS - - - - - Ins - I 175771589 175771599 1 36 582.348 - - 9 1 1 - - ./. 0 0 0 0 25 29 25 30 0 0 ./. 3 8 7 7 23 24 23 24 7 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717392375 4 176812940 GGAATAGCAGAATCAGAGACTAGTCTGAAGCTTCAACTCATAATTTCAAAGCTCATTTAGATAATTATAGTACTAAATAAAGAATAAAATGAAAAGGCAAGGCTATGATTCATAATATTGCAAGCTGTGATGCTGCAGGATTGCCAGGAACAGAGATCAACAAGCAGTACAGCAAACTTCAATGTGGCTTTTGCCCGTTGTTATCTTGCATGTTGTATGTGTGTTGACACAGACTCAATAAAAATCAGAGGGCTTGTTTGGGAAGCAGTCTAGTACTTTAAAACTACTATCAAGCATGTAACTTTGCCACCTTTTGGTAACTAAAGCGAACTACAATTTACATTCTCAAGAACAAAATTAACCAAATGGCATCTTGCTCATATGAATCCTACCTAATTGAGAGATAATATCACAGTCATTTATTATTTACATAATTAAAATCCTTAAATAGGGACTCAAGATACCCTCTTATTTCATTCGAACTTACTTCATTAACCTTAAAAAATACATCTAGAAAAACAATCTGCTACTTATTGTTCCCTATCCCTTCCCTACTTTTTCTCACTTCTTGGTCATTATTTGTGCTTTCTTCTCTCTCAAATGTCCAATACTGTCTATCCTTCAACTTGTAATTCATGTGTCAACTATTTCATGAATTCGTAAGCAGCCCCAACTGGAGTAATGGTCACTACTGTGAAATCCTGTTGCACTCTATTTTTACTTCTTATACTTATTGTTCATTCTTTCATTCCTTTATTCAATAAATATTTTCATCCACTTTGTAAGAGAGAGTGAAGGACTAAATTTTCCACTACGGCTCTTTCATTTGCTTGATCCCTACAGCTGTCTCTTCCTCCCATCCCCTCTGGCACATGACCTTCACCCAATTGCCCCTTCTCACCCTGTTGACATAATCCAAATTCCTCAAACAATGGCAGTGAATATACAAGAATCATCTTTGAGCAACTATTCCCAAAACTAGGTGAACTTCAACTACTTCCTCTTGCTAAACTCAATAAAAGCTCCGTCTTCCAGATTTTTACCTATATTGTTCTGACTGATTTTCTTCCAGGGTTTCAATGTCAAGACTCAGATCAGGACTGTGTTTTTGGGTGCTTGGCATTTCATCATGCCAGACACTCTGTTGATGTCTCCTCTCTTTGGAGTCCCAGTGACTAGACAGTTGGGCTGGTCCTGCTCCTGACCACTGTTCTGCTCCCTTTGCTTGAAAGCACTATCTAAGCTTTTATTCTTCCATCTTAATTGTCCTTGGTGTAAGCTTTTTCATTTGCACTGTTTCGCTACTTAATGGGTCTCCCCCATGGATAAGACAGGCATTGGAGACAGTGATGGTAAACCTACGAGCCTGATGCTCAGGTTCTCTTATTTTGAATCAATGTACTTGTGGGCTGCTATCCAGCTTCTTAAACTGTGGCAGGCTTTTATTAAGAACAACTTTGAACTTTATTGATAATACTAGAAAAACTTGGAATATGAAGAAAATAATCCTTTGTGATATGCCGTAGGAAAGGAGAAGTTTCAAAATTTCAACTATTCAATGATCAGCGTTTTTTATTTTTTGAAGTAGCCTCTACAACTTAAGAAATTTCTAAAACTGATTCCCTTAAGAACTCCTTAGAAAAGGTAATAAAAGCATGGAGTACCTAAAATCCTAAGTTAAACACTTCTCCCTTTCTCCTGACCTTACTCTGATCAGCCTCCCTCCTGGCCTCCCTTAAGCTGACTGCCTTTTTCCTCTTGTTCTATTCTTCCTCCTGATCCTCCAGCACCTTCATGGGGTCCTCCTTTCTTTCCTCGGCCAGTTTTTCTTAAACTACCCCCTGAATAGATAATATTCCTTCTTAATGTCTTATAAGACAGGTGGGGATGATAACTAACCTCATTCGTTTTATATCTTCAAATCTTTGTTCAGATCAGATTTGCATAATCTAGTTACGTTTCCTAACCTTCCTAAGTAAAAACAGAAGTTCACTGAAGAATATAAGTTTATTCTAGGAATGTGTAGTCTAAGATAACCTGATATCTATCAACTCATCTCTTTGTAGGACATGAAGGTGCTAAAACTCGGTAAGAAAAAGCGATATAAATTAATTAACAAAATGATATAAAATATAATGATCAACATTTGAGAGAGCTGCACACCTCACATTCTATCTCTGAGATCATTCCTGTTGAAATGGATTGGTCAAAAATCCAATCCTTAAAAAAGACAGAGATTAAAAATAAATTAATCTCTTATTTCAGAGACCCCTTAACTCCTACTTCTGAGAATACTGTTGTCTCAGTGTGGCTGATAATTTCACAAGTGCTTTATCCACCTTCTTTGTTGATCTTAAAACTGAGATGGCAGATATAATTGGAAAACAGAAGATAAGATAGCAGACCGTCCTCATGTTAGAATTACATTTTTTTTTAGTTCTTTGAAGATACTTTTGCTCAGAAAAAAAAGGAAAAGTGATAGACCAAATTAAGTGTTCTCAGCAACTACTAAGTCCAAGTGGGAAATCATCTATATCTAATCTATAGGAAGATACTTCTGTATATAGCGAAAAAGCGAGGAAGGGGTGCTAAAGAACAATTGCTCTGCCTTAGCTCGAAAGACAGAGTCACAAAATATAAAAGACTAACTCTGTCTGATAGAGTGACTCCCCTCTGAGGAAATAGCTGCTCCATTCTGCCCACAATTGCTTTTCATGAAAAGAAAGAGATTTTTATGCATGCAAAAA G 435 PASS GPM6A CCDS3824.1 r.? - - Del intronic D 176812940 176815689 2746 72 806.644 - - 1 1 1 GPM6A|CCDS3824.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GPM6A|CCDS3824.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 22 27 22 0 0 ./. 7 8 0 0 34 26 41 34 7 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717393539 4 179901647 ATAAAATTTTTTG A 406 PASS - - - - - Del - D 179901647 179901661 12 60 752.226 - - 1 1 1 - - ./. 0 0 0 0 17 4 17 4 0 0 ./. 9 5 10 5 23 21 23 21 10 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717395567 4 185082463 CG C 720 PASS ENPP6 CCDS3834.1 r.? - - Del intronic D 185082463 185082468 1 49 645.797 - - 4 1 1 ENPP6|CCDS3834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENPP6|CCDS3834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 26 24 26 0 0 ./. 6 6 10 7 34 31 34 31 10 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717396734 4 188008086 CGGTGAGAGTCCGA C 261 PASS - - - - - Del - D 188008086 188008102 13 30 484.348 - - 1 1 1 - - ./. 0 0 0 0 13 26 13 26 0 0 ./. 4 5 4 4 27 18 27 19 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717399402 5 637491 GTGCGTGTACATATGTAAGTGTGCGTGTGTGTCCATGTGTGTATATACATGGGCACACACATGCCTTTTAAAAGTTACAGTGCTGAACACTGCACCCAGAGAATTTGGCCTGACGTGCGCCCCATCCTCTCTATATCTCAGACTCCATGGATACCGAGGACTCGGCCTCTTCTCAGAAGTTGGATTTGTCAGGAGAAATGGTGCCTGGTCCCCTGCCAGCCCCCGGAAAGTGCAGGAAGCGAAGAATGCCTGTTGGAAGATTCCAGACGTTTTCGGACCAGGAGGGTTTGGGCTGCCCGGAGAGAACTCATGGGTCCTCCGTGCCCAAGGAGAGCCTGAGCAGACAGGACAGCTCAGAAAGCAGGAACGGGAGGACCTTGTCTCAGCCTGAGGCCTCGGAGACTGAGGAGCAGAGGTCTCGGGGTGTGACCGACACCAGAGAGGTGAGAGAAGGGCTGGGGAGCAGCAGGCCCACGGCACTGCCTCCCTAATGTGGGGCTGTTACGGCTTTGGCGGGGCCGTGATTACGCCTGCGGCACTGACTGTGTCCCTCCCTGATGCAGGGCTGTTACGGCGGTGCCGTGATTACGCCTACGGCACTGACCGTGTCCCTCCCTGATGCGGGGCTGTTACGGCTTTGGCGGTGCCGTGATTACGCCTACGGCACTGACCGTGTCCCAGGATAAAGGGAATCATCACACTTAGGGTTCCAGGGTGCTTGCTGCTGCGTTTTGTTGGACGTGTGCCTCTGTGCCACACGCTGTCCTGCGCTGCTGTTCTGAGTGGAAGCCCCGTGGTGGAGAGAGGGGACTCTGCCTTACGGTGCACAGGGCATTTGTCTCCAAAGCTGGAATCGGGCATCTTGGCCGGCTGAGCCATTGATGACCCT G 261 PASS CEP72 CCDS34126.1 r.995-140_1296+446del888 c.905-140_1206+446del888 p.? Del ess splice D 637491 638381 888 24 484.383 - - 1 1 - CEP72|CCDS34126.1|r.995-140_1296+446del888|c.905-140_1206+446del888|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 CEP72|CCDS34126.1|r.995-140_1296+446del888|c.905-140_1206+446del888|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 15 7 15 7 0 0 ./. 2 7 0 0 22 14 24 21 2 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717399404 5 641129 GCAAGTTACCC G 261 PASS CEP72 CCDS34126.1 r.? - - Del intronic D 641129 641143 10 30 484.985 - - 1 1 1 CEP72|CCDS34126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CEP72|CCDS34126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 4 6 4 23 28 23 28 6 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717400554 5 3493736 A AT 509 PASS - - - - - Ins - I 3493736 3493741 1 28 479.566 - - 4 1 1 - - ./. 0 0 0 0 16 13 16 14 0 0 ./. 6 3 6 6 33 23 33 24 6 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717403043 5 10826957 CA C 1409 PASS - - - - - Del - D 10826957 10826965 1 169 1292.69 - - 7 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 12 12 16 15 36 35 36 35 16 15 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717407050 5 22523554 A AT 1020 PASS CDH12 CCDS3890.1 r.? - - Ins intronic I 22523554 22523562 1 60 905.848 - - 7 1 1 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 21 14 21 0 0 ./. 3 14 5 14 24 43 24 43 5 14 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717408131 5 25781502 AGATGT A 269 PASS - - - - - Del - D 25781502 25781510 5 10 269.436 - - 1 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 1 4 2 6 17 33 17 33 2 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717408421 5 26572323 C CG 1200 PASS - - - - - Ins - I 26572323 26572324 1 117 1065.7 - - 0 1 1 - - ./. 0 0 0 0 23 19 23 20 0 0 ./. 8 12 9 14 40 32 40 33 9 14 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717408443 5 26704375 ATTT A 696 PASS - - - - - Del - D 26704375 26704380 3 64 754.421 - - 4 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 7 7 10 7 26 28 26 28 10 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717408816 5 27918517 A AAGTACATAT 348 PASS - - - - - Ins - I 27918517 27918529 9 45 581.624 - - 1 1 1 - - ./. 0 0 0 0 8 21 8 22 0 0 ./. 4 8 4 7 27 34 27 35 4 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717408817 5 27918770 GAGCCAACACGCTTGGCCTTAAA G 394 PASS - - - - - Del - D 27918770 27918796 22 63 750.206 - - 1 1 1 - - ./. 0 0 0 0 17 24 17 24 0 0 ./. 6 8 6 7 37 29 37 30 6 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717409687 5 29979856 C CT 658 PASS - - - - - Ins - I 29979856 29979866 1 48 635.207 - - 9 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 5 8 7 24 25 24 25 8 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717411802 5 35099954 ATG A 660 PASS PRLR CCDS3909.1 r.? - - Del intronic D 35099954 35099960 2 40 592.759 - - 2 1 1 PRLR|CCDS3909.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PRLR|CCDS3909.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 7 10 10 31 41 31 41 10 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717413280 5 39746187 CA C 960 PASS - - - - - Del - D 39746187 39746190 1 80 862.195 - - 2 1 1 - - ./. 0 0 0 0 18 24 18 24 0 0 ./. 9 7 11 9 26 31 26 31 11 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717414941 5 44923470 TTTGAAATGTGAGGACATGAGATTTGGGAGGGGCCAGGAG T 522 PASS - - - - - Del - D 44923470 44923511 39 100 969.97 - - 1 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 9 9 5 3 27 31 31 37 9 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717414992 5 45214068 GGATTATAAAAATCATCCAACT G 493 PASS - - - - - Del - D 45214068 45214092 21 78 916.082 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 12 5 9 3 30 27 33 29 12 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717415513 5 50169123 AG A 540 PASS - - - - - Del - D 50169123 50169125 1 28 484.985 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 6 3 8 8 25 34 25 34 8 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717417315 5 55203156 ACTTACACTTTTTTTT A 290 PASS IL31RA CCDS3970.2 r.? - - Del intronic D 55203156 55203175 15 27 538.872 - - 1 1 1 IL31RA|CCDS3970.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL31RA|CCDS3970.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 8 2 8 2 34 31 34 31 8 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717418137 5 57534316 CTTAT C 877 PASS - - - - - Del - D 57534316 57534328 4 70 807.706 - - 2 1 1 - - ./. 0 0 0 0 14 23 14 23 0 0 ./. 6 9 7 9 30 31 30 31 7 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717418749 5 59442781 GA G 300 PASS PDE4D CCDS47032.1 r.? - - Del intronic D 59442781 59442789 1 6 269.436 - - 7 1 1 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 5 0 6 2 23 24 23 24 6 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717424642 5 79099145 GGCG GTT 300 PASS CMYA5 CCDS47238.1 r.? - - Complex downstream DI 79099146 79099148 3 12 0 - - 0 1 1 CMYA5|CCDS47238.1|r.?|-|-|protein_coding:indel:5KB_downstream_variant|SO:0000010:SO:1000032:SO:0001633 CMYA5|CCDS47238.1|r.?|-|-|protein_coding:indel:5KB_downstream_variant|SO:0000010:SO:1000032:SO:0001633 ./. 0 0 0 0 14 23 14 23 0 0 ./. 2 3 0 0 32 35 32 35 2 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717426688 5 84846478 AG A 837 PASS - - - - - Del - D 84846478 84846480 1 64 754.421 - - 1 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 7 7 12 11 35 34 35 34 12 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717428177 5 90057117 G GA 1500 PASS GPR98 CCDS47246.1 r.? - - Ins intronic I 90057117 90057126 1 182 1324.3 - - 8 1 1 GPR98|CCDS47246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPR98|CCDS47246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 12 13 13 18 31 34 31 34 13 18 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717428708 5 91942110 GA G 960 PASS - - - - - Del - D 91942110 91942115 1 72 862.195 - - 4 1 1 - - ./. 0 0 0 0 28 12 28 12 0 0 ./. 11 5 13 7 39 26 39 26 13 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717431056 5 99946752 C CT 780 PASS - - - - - Ins - I 99946752 99946760 1 56 689.095 - - 7 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 7 6 8 8 29 36 30 36 8 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717436815 5 117467474 GT G 1440 PASS - - - - - Del - D 117467474 117467479 1 160 1286.07 - - 4 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 15 9 16 10 42 28 42 28 16 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717437589 5 120254250 GT G 300 PASS - - - - - Del - D 120254250 120254256 1 10 269.436 - - 5 1 1 - - ./. 0 0 0 0 21 23 21 23 0 0 ./. 4 1 5 3 50 37 50 37 5 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717439163 5 124935175 GC G 989 PASS - - - - - Del - D 124935175 124935177 1 90 916.082 - - 1 1 1 - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 8 9 10 11 33 27 33 27 10 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717441624 5 133081967 C CTT 300 PASS - - - - - Ins - I 133081967 133081971 2 12 263.415 - - 3 1 1 - - ./. 0 0 0 0 28 21 28 22 0 0 ./. 2 3 2 4 34 24 34 24 2 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717442136 5 134812434 CTCAGAGGAA C 406 PASS - - - - - Del - D 134812434 134812446 9 60 747.798 - - 1 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 5 9 5 11 38 34 38 34 5 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717442679 5 136929600 TTTTTATAATTTTATGAC T 290 PASS - - - - - Del - D 136929600 136929627 17 35 538.872 - - 1 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 6 4 5 41 33 41 34 4 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717443228 5 138097799 TAA T 600 PASS CTNNA1 CCDS34243.1 r.? - - Del intronic D 138097799 138097802 2 36 538.872 - - 2 1 1 CTNNA1|CCDS34243.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CTNNA1|CCDS34243.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 18 23 18 0 0 ./. 5 5 8 5 50 42 50 42 8 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717446434 5 147158092 G GT 420 PASS JAKMIP2 CCDS4285.1 r.? - - Ins intronic I 147158092 147158093 1 18 372.394 - - 0 1 1 JAKMIP2|CCDS4285.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 JAKMIP2|CCDS4285.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 18 20 19 0 0 ./. 2 5 2 5 32 47 32 47 2 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717446439 5 147178445 AT A 360 PASS - - - - - Del - D 147178445 147178452 1 12 323.323 - - 6 1 1 - - ./. 0 0 0 0 19 23 19 23 0 0 ./. 1 5 2 5 47 38 47 38 2 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717446565 5 147527029 GT G 300 PASS - - - - - Del - D 147527029 147527034 1 12 268.834 - - 4 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 3 2 18 8 40 37 40 37 18 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717447496 5 150544884 TGAATTAGAAAAAGCAGG T 551 PASS - - - - - Del - D 150544884 150544903 17 110 1017.84 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 9 10 9 9 22 36 22 37 9 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717449048 5 155107464 TGGAGAGGGGGCTCAA T 278 PASS - - - - - Del - D 155107464 155107483 15 32 538.872 - - 1 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 7 4 7 21 33 21 33 4 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717450233 5 158672114 GTC G 360 PASS - - - - - Del - D 158672114 158672132 2 12 322.721 - - 8 1 - - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 1 5 3 7 32 37 32 37 3 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717450234 5 158672370 CTCCTGTCTTGGCA C 319 PASS - - - - - Del - D 158672370 158672387 13 36 592.759 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 8 3 8 32 33 32 33 3 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717450703 5 160065309 GTGCCTTATCTTGTCCTGTGACCTTTTAATCAT G 406 PASS ATP10B CCDS43394.1 r.? - - Del intronic D 160065309 160065343 32 60 748.4 - - 1 1 1 ATP10B|CCDS43394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP10B|CCDS43394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 20 25 20 0 0 ./. 9 5 6 5 35 39 38 39 9 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717451047 5 161160443 GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA G 300 PASS - - - - - Del - D 161160443 161160487 41 10 269.436 - - 1 1 - - - ./. 0 0 0 0 31 18 31 18 0 0 ./. 4 1 0 0 57 28 57 28 4 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717451101 5 161311429 AT A 1140 PASS GABRA1 CCDS4357.1 r.? - - Del intronic D 161311429 161311437 1 98 1023.86 - - 7 1 1 GABRA1|CCDS4357.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GABRA1|CCDS4357.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 17 22 17 0 0 ./. 13 6 14 8 47 38 47 38 14 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717451973 5 163738660 CT C 300 PASS - - - - - Del - D 163738660 163738664 1 10 269.436 - - 3 1 1 - - ./. 0 0 0 0 23 26 23 26 0 0 ./. 1 4 1 4 43 31 43 31 1 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717452594 5 165633610 AATTGCCATGGC A 493 PASS - - - - - Del - D 165633610 165633629 11 78 916.082 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 12 5 14 6 36 31 36 31 14 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717463841 6 17712781 C CTATA 449 PASS - - - - - Ins - I 17712781 17712786 4 21 410.423 - - 2 1 1 - - ./. 0 0 0 0 24 13 24 13 0 0 ./. 6 2 6 4 22 19 22 19 6 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717464312 6 18981505 CA C 900 PASS - - - - - Del - D 18981505 18981511 1 70 808.451 - - 5 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 9 10 12 28 20 28 20 10 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717467034 6 26499467 AAAAAAAAAAGAAAAGAAAAG A 290 PASS BTN1A1 CCDS4614.1 r.? - - Del upstream D 26499467 26499491 20 36 533.95 - - 1 1 - BTN1A1|CCDS4614.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 BTN1A1|CCDS4614.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 23 15 23 0 0 ./. 5 5 5 5 27 27 27 27 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717467574 6 28445891 TGCTATACAGACAAAACAAA T 377 PASS - - - - - Del - D 28445891 28445912 19 54 701.179 - - 1 1 1 - - ./. 0 0 0 0 18 25 18 25 0 0 ./. 8 5 8 5 37 25 37 25 8 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717475412 6 48804384 A AT 660 PASS - - - - - Ins - I 48804384 48804393 1 42 586.683 - - 8 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 5 6 8 6 40 29 41 29 8 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717479353 6 57798600 CCACCTAAAATTAAGATCTAGGGACAACATCAGGAGGCTGAGTCAGGAGAATGGTATGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGGTCGTGCCACTG C 349 PASS - - - - - Del - D 57798600 57798705 101 56 700.577 - - 1 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 7 6 0 0 24 13 31 19 7 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717480694 6 64949392 ACAAGTGATCATGAGCTTTTTTT A 276 PASS EYS CCDS47445.1 r.? - - Del intronic D 64949392 64949417 22 32 538.767 - - 1 1 1 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 18 26 18 0 0 ./. 7 3 6 3 31 32 32 32 7 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717481424 6 66955874 A AT 480 PASS - - - - - Ins - I 66955874 66955882 1 16 426.678 - - 7 1 1 - - ./. 0 0 0 0 19 26 19 26 0 0 ./. 7 1 11 7 41 24 41 25 11 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717485020 6 79199718 ACTCCAGTCACATT A 261 PASS - - - - - Del - D 79199718 79199736 13 30 485.432 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 4 5 4 15 26 15 26 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717486930 6 87144548 TG T 720 PASS - - - - - Del - D 87144548 87144553 1 45 645.436 - - 4 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 8 4 9 5 15 13 15 13 9 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717487971 6 90821855 ATCTCTTTG A 290 PASS BACH2 CCDS5026.1 r.? - - Del intronic D 90821855 90821869 8 35 534.552 - - 1 1 1 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 6 4 7 5 30 23 30 23 7 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717493502 6 112487984 AG A 360 PASS LAMA4 CCDS34514.1 r.? - - Del intronic D 112487984 112487986 1 12 323.621 - - 1 1 1 LAMA4|CCDS34514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LAMA4|CCDS34514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 1 5 5 5 23 21 23 21 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717496857 6 124155685 TC T 540 PASS NKAIN2 CCDS34526.1 r.? - - Del intronic D 124155685 124155689 1 30 485.432 - - 3 1 1 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 25 18 25 0 0 ./. 5 4 8 9 28 27 28 27 8 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717497524 6 126941478 TCTTGGAAAATCATAT TATTCCTC 319 PASS - - - - - Complex - DI 126941479 126941493 15 42 0 - - 0 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 6 5 0 0 21 20 21 20 6 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717502049 6 144376769 TTCACTTTCATCCTTAGCA T 290 PASS PLAGL1 CCDS5202.1 r.? - - Del intronic D 144376769 144376788 18 35 538.767 - - 1 1 1 PLAGL1|CCDS5202.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLAGL1|CCDS5202.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 6 4 7 13 17 13 17 4 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717505038 6 154463414 A AGAGGCAGTCTCTCCTGGAGGGGTGGGGTGGGGAGTCCTGTCCTGCCCTGCTCATGCCTGTGGGTAGCTCATCAGGCAT 290 PASS OPRM1 CCDS43517.1 r.? - - Ins intronic I 154463414 154463429 78 27 69.7619 - - 0 1 1 OPRM1|CCDS43517.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OPRM1|CCDS43517.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 8 2 0 0 18 16 27 18 8 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717507253 6 161142783 ATTTTTCAGTGTTCTTGTGCCTCCTTCTGATGGAACTTGTACCTGTGGTGGGTTTGGAAAGAAAGAGTAGTAGGCTTCT A 377 PASS PLG CCDS5279.1 r.? - - Del intronic D 161142783 161142862 78 56 701.179 - - 1 1 1 PLG|CCDS5279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLG|CCDS5279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 22 22 22 0 0 ./. 7 6 0 0 23 26 30 32 7 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717509142 6 166209583 T TC 300 PASS - - - - - Ins - I 166209583 166209584 1 12 258.245 - - 0 1 - - - ./. 0 0 0 0 10 18 10 19 0 0 ./. 2 3 3 4 24 36 24 36 3 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717509552 6 167419671 TGTA T 594 PASS FGFR1OP CCDS5296.1 r.? - - Del intronic D 167419671 167419679 3 56 701.179 - - 2 1 1 FGFR1OP|CCDS5296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGFR1OP|CCDS5296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 7 6 9 7 38 33 38 33 9 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717509631 6 167636501 GTTCTGGTAAAATCTGCC G 261 PASS - - - - - Del - D 167636501 167636519 17 10 485.432 - - 1 1 1 - - ./. 0 0 0 0 23 12 23 12 0 0 ./. 9 0 8 0 43 18 45 18 10 0 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717510157 6 169167752 GT G 1769 PASS - - - - - Del - D 169167752 169167759 1 255 1610.88 - - 6 1 1 - - ./. 0 0 0 0 18 25 18 25 0 0 ./. 16 14 18 21 51 43 51 43 18 21 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717510207 6 169277127 GGGAGGCCTGGCGGGT G 1160 PASS - - - - - Del - D 169277127 169277148 15 432 2132.19 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 23 17 22 17 37 33 38 33 23 17 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717510392 6 169690108 TATTTG T 476 PASS - - - - - Del - D 169690108 169690118 5 32 536.358 - - 1 1 1 - - ./. 0 0 0 0 23 23 23 23 0 0 ./. 7 3 8 4 39 32 39 32 8 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717514717 7 9426811 C CT 600 PASS - - - - - Ins - I 9426811 9426821 1 36 526.817 - - 9 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 5 5 8 7 56 49 57 49 8 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717514744 7 9551138 TTGC T 629 PASS - - - - - Del - D 9551138 9551142 3 30 592.142 - - 1 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 9 2 9 3 48 28 48 28 9 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717514903 7 9961080 GTTAGGATTTTGCA G 870 PASS - - - - - Del - D 9961080 9961095 13 256 1606.34 - - 1 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 15 15 15 14 34 37 34 38 15 15 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717516871 7 14802135 AAAAT A 1525 PASS DGKB CCDS47547.1 r.? - - Del intronic D 14802135 14802148 4 221 1508.8 - - 3 1 1 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 32 22 32 0 0 ./. 16 12 17 17 37 27 37 27 17 17 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717517641 7 16848008 TGTGAGGGTTAAGAGGGCAAGCTGTAGATTCAGATAGGTTCGAGTTTGAATCAAGTTTCCTGACTGTTACATACTCTACTAATCCAGGCAACTTACTTAACTTCTCTGTGCTTTAGTTGTCTCACTTGTAGGTCTTCCTATCCCTACTTTTTTACTATATAGGATCTGTGGAAGATTACATAAGATAATAGACATAAAGTGCTTAGAATGGTACATAACACATAGTAAGCACTCAAAAATATTAGTTAGTAATACAGAATGTATTACTTCTCTGTATTATGATCATTTAGGTCTCAGTCTATGACAGCAGAATCTTTGTTGGATTACCCTTTGATTATAGCCTATCACAAGTCTTAAACTTTTCACATATATTCATTGGAAATATTCATTTGTCATTATAACAATCTCACCAGACTTCATTATTTTCTTTTAAAAAAGTA T 261 PASS AGR2 CCDS5364.1 r.? - - Del upstream D 16848008 16848448 439 30 484.973 - - 1 1 1 AGR2|CCDS5364.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AGR2|ENST00000412973|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 14 22 14 0 0 ./. 4 5 0 0 36 30 40 35 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717520880 7 25567277 CT C 420 PASS - - - - - Del - D 25567277 25567282 1 18 377.201 - - 4 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 5 3 5 30 16 30 16 3 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717522877 7 31065237 TG T 300 PASS AC006978.1 ENST00000507825 r.? - - Del intronic D 31065237 31065242 1 6 264.613 - - 4 1 1 AC006978.1|ENST00000507825|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC006978.1|ENST00000507825|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 0 5 0 6 37 41 37 41 0 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717522956 7 31265476 TTTTTCATTCATAATTTGAACAG T 261 PASS - - - - - Del - D 31265476 31265501 22 30 484.973 - - 1 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 5 4 5 4 48 44 48 44 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717523206 7 31813834 AG A 840 PASS PDE1C ENST00000396193 r.? - - Del intronic D 31813834 31813837 1 63 751.391 - - 2 1 1 PDE1C|ENST00000396193|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE1C|ENST00000396193|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 8 6 12 11 64 61 64 61 12 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717523423 7 32415775 AG A 300 PASS - - - - - Del - D 32415775 32415777 1 10 269.429 - - 1 1 - - - ./. 0 0 0 0 24 12 24 12 0 0 ./. 4 1 5 1 43 51 43 51 5 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717526018 7 38687911 T TA 1469 PASS - - - - - Ins - I 38687911 38687918 1 176 1330.89 - - 6 1 1 - - ./. 0 0 0 0 14 23 15 23 0 0 ./. 15 10 28 20 58 42 59 43 28 20 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717526187 7 39087244 CA C 1020 PASS POU6F2 CCDS34620.2 r.? - - Del intronic D 39087244 39087253 1 70 914.855 - - 8 1 1 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 13 4 15 6 56 45 56 45 15 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717526325 7 39508698 TGAAAGAG T 464 PASS POU6F2 CCDS34620.2 r.? - - Del downstream D 39508698 39508708 7 77 862.173 - - 1 1 1 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 22 11 22 0 0 ./. 6 10 7 10 36 39 36 39 7 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717528408 7 44192023 TTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGA T 493 PASS GCK CCDS5480.1 r.374-261_374del262 c.212-261_212del262 p.? Del ess splice D 44192023 44192290 262 48 912.447 - - 1 1 1 GCK|CCDS5480.1|r.374-261_374del262|c.212-261_212del262|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 GCK|CCDS5480.1|r.374-261_374del262|c.212-261_212del262|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 12 19 12 19 0 0 ./. 2 15 0 0 22 22 24 37 2 15 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717528410 7 44192634 ACAGGGGTGAGCCACTGCACCTGGC A 377 PASS GCK CCDS5479.1 r.? - - Del intronic D 44192634 44192663 24 50 695.097 - - 1 1 1 GCK|CCDS5479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GCK|CCDS5479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 9 4 9 3 34 17 34 18 9 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717528421 7 44227601 GCCATCTTT G 464 PASS GCK CCDS5479.1 r.? - - Del intronic D 44227601 44227611 8 80 862.173 - - 1 1 1 GCK|CCDS5479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GCK|CCDS5479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 23 16 23 0 0 ./. 7 9 10 15 42 48 42 48 10 15 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717529028 7 45800175 CA C 522 PASS - - - - - Del - D 45800175 45800179 1 70 915.457 - - 3 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 4 13 6 14 40 62 40 62 6 14 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717530346 7 49381194 A AT 780 PASS - - - - - Ins - I 49381194 49381203 1 56 692.087 - - 8 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 6 7 9 12 46 66 46 66 9 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717531002 7 51249916 G GA 360 PASS COBL CCDS34637.1 r.? - - Ins intronic I 51249916 51249926 1 15 314.886 - - 9 1 1 COBL|CCDS34637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COBL|CCDS34637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 24 17 24 0 0 ./. 2 4 2 4 47 52 48 52 2 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717531358 7 52028059 AT A 300 PASS - - - - - Del - D 52028059 52028064 1 10 268.225 - - 4 1 1 - - ./. 0 0 0 0 24 23 24 23 0 0 ./. 4 1 4 1 32 45 32 45 4 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717532648 7 54961855 ATTCATGTATTGCTG A 667 PASS - - - - - Del - D 54961855 54961872 14 144 1237.57 - - 1 1 1 - - ./. 0 0 0 0 23 18 23 18 0 0 ./. 8 15 8 15 43 37 43 37 8 15 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717532669 7 55054470 CG C 540 PASS - - - - - Del - D 55054470 55054479 1 30 482.564 - - 8 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 4 8 4 31 33 31 33 8 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717534961 7 61822337 TG T 259 PASS - - - - - Del - D 61822337 61822341 1 49 640.609 - - 3 1 1 - - ./. 0 0 0 0 61 98 61 98 0 0 ./. 6 6 7 6 141 174 141 174 7 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717535337 7 62302717 GTTTCTTGTCATTCAGCAGTTTGGAAACAC G 377 PASS - - - - - Del - D 62302717 62302750 29 50 700.516 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 9 3 8 33 30 34 31 4 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717539411 7 69878163 CAAAAGCA C 377 PASS AUTS2 CCDS5539.1 r.? - - Del intronic D 69878163 69878173 7 50 699.312 - - 1 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 9 4 10 7 40 23 40 23 10 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717546070 7 88790810 A AAT 360 PASS ZNF804B CCDS5613.1 r.? - - Ins intronic I 88790810 88790818 2 15 316.09 - - 3 1 1 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 13 23 14 0 0 ./. 2 4 6 4 43 30 43 30 6 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717548381 7 96881428 TCATGAGAAGAATCTATCTTTC T 261 PASS - - - - - Del - D 96881428 96881454 21 28 484.973 - - 1 1 1 - - ./. 0 0 0 0 27 15 27 15 0 0 ./. 3 6 3 6 26 36 26 36 3 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717551235 7 103861224 CCAAGCTTG CATAA 776 PASS - - - - - Complex - DI 103861225 103861232 8 224 0 - - 0 1 1 - - ./. 0 0 0 0 25 18 25 18 0 0 ./. 13 15 0 0 24 30 24 31 13 15 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717552437 7 107446755 GGGATTACA G 290 PASS SLC26A3 CCDS5748.1 r.? - - Del upstream D 107446755 107446767 8 27 537.654 - - 1 1 1 SLC26A3|CCDS5748.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SLC26A3|CCDS5748.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 24 14 24 0 0 ./. 2 8 3 9 12 29 12 29 3 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717553397 7 110713680 TC T 300 PASS IMMP2L CCDS5753.1 r.? - - Del intronic D 110713680 110713684 1 12 269.429 - - 3 1 1 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 28 17 28 0 0 ./. 2 3 2 6 34 47 34 47 2 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717555276 7 117373707 ATTTAAATATAACATG A 261 PASS CTTNBP2 CCDS5774.1 r.? - - Del intronic D 117373707 117373723 15 30 480.156 - - 1 1 1 CTTNBP2|CCDS5774.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTTNBP2|CCDS5774.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 4 5 4 29 36 29 36 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717558126 7 126974981 CCATATCATCCAGCAGTCT C 261 PASS - - - - - Del - D 126974981 126975002 18 28 484.973 - - 1 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 6 3 5 3 23 24 24 24 6 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717558800 7 128871079 C CA 300 PASS AHCYL2 CCDS5812.1 r.? - - Ins intronic I 128871079 128871088 1 12 265.215 - - 8 1 1 AHCYL2|CCDS5812.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AHCYL2|CCDS5812.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 23 17 23 0 0 ./. 2 3 5 3 23 21 23 21 5 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717561375 7 136121244 CCTTT C 389 PASS - - - - - Del - D 136121244 136121256 4 20 377.201 - - 2 1 1 - - ./. 0 0 0 0 27 23 27 23 0 0 ./. 3 4 3 4 35 26 35 26 3 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717564525 7 147107107 GAC G 360 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 147107107 147107111 2 16 323.315 - - 1 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 23 14 23 0 0 ./. 3 3 3 3 28 24 28 24 3 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717564649 7 147360865 TATAC T 389 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 147360865 147360877 4 18 377.201 - - 2 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 2 5 4 6 26 21 26 21 4 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717565971 7 151538510 AGGGATGGTAGTGATAGTAGGTAGGGATGGTAGTGATAGTAGTGATGGTAGGTAATGATGATGGTAGTGATGGTAGGTT A 383 PASS PRKAG2 CCDS43683.1 r.? - - Del intronic D 151538510 151538603 78 32 532.236 - - 1 1 - PRKAG2|CCDS43683.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PRKAG2|CCDS43683.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 7 0 0 39 24 39 24 3 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717568797 8 567019 AG A 300 PASS - - - - - Del - D 567019 567021 1 12 269.215 - - 1 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 2 3 2 4 19 19 19 19 2 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717579244 8 34947764 AGTGT A 689 PASS - - - - - Del - D 34947764 34947770 4 40 646.115 - - 2 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 9 3 11 5 37 24 37 24 11 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717579487 8 35981419 CT C 360 PASS - - - - - Del - D 35981419 35981423 1 16 322.455 - - 3 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 3 3 5 24 25 24 25 3 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717582663 8 48521284 TTTTTTTA T 319 PASS KIAA0146 CCDS43737.1 r.? - - Del intronic D 48521284 48521305 7 42 592.272 - - 2 1 1 KIAA0146|CCDS43737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0146|CCDS43737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 6 6 8 25 35 25 35 6 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717582857 8 49273379 CA C 780 PASS - - - - - Del - D 49273379 49273381 1 56 699.958 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 6 7 7 9 43 52 43 52 7 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717583088 8 50205717 TGGCA T 598 PASS - - - - - Del - D 50205717 50205723 4 42 588.66 - - 1 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 5 6 5 10 27 29 27 29 5 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717584049 8 52816694 CA C 1229 PASS PCMTD1 CCDS6148.1 r.? - - Del upstream D 52816694 52816700 1 126 1130.1 - - 5 1 1 PCMTD1|CCDS6148.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000228801|ENST00000423716|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 20 11 20 0 0 ./. 8 13 10 17 39 48 39 48 10 17 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717584942 8 55164145 AG A 900 PASS - - - - - Del - D 55164145 55164147 1 70 807.643 - - 1 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 6 9 8 12 47 37 47 37 8 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717585042 8 55371938 GGC G 300 PASS SOX17 CCDS6159.1 r.833_834delGC c.629_630delGC p.P212fs*152 Del frameshift D 55371938 55371945 2 12 260.184 - - 3 1 1 SOX17|CCDS6159.1|r.833_834delGC|c.629_630delGC|p.P212fs*152|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SOX17|CCDS6159.1|r.833_834delGC|c.629_630delGC|p.P212fs*152|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 12 21 12 21 0 0 ./. 2 3 2 4 38 58 38 58 2 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717585263 8 55960197 AAGTTGTCACAAC A 319 PASS - - - - - Del - D 55960197 55960212 12 42 592.272 - - 1 1 1 - - ./. 0 0 0 0 26 20 26 20 0 0 ./. 6 5 6 6 58 39 58 39 6 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717586156 8 58658341 AGGTCGGATTTTGGATTTTCAGATTAAGGATGTTTAACTGGTAAGTATAATGCAAATATTTCAAAATCTGAAAAAACATCTGAAATCTGAAACACTTCT A 580 PASS - - - - - Del - D 58658341 58658444 98 121 1075.05 - - 1 1 1 - - ./. 0 0 0 0 13 26 13 26 0 0 ./. 10 10 0 0 36 27 46 37 10 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717588006 8 63989578 GAC G 2460 PASS TTPA CCDS6178.1 r.? - - Del intronic D 63989578 63989581 2 450 2206.96 - - 1 1 1 TTPA|CCDS6178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTPA|CCDS6178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 24 17 37 22 57 41 57 41 37 22 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717589692 8 68203193 GT G 360 PASS ARFGEF1 CCDS6199.1 r.? - - Del intronic D 68203193 68203198 1 16 323.057 - - 4 1 1 ARFGEF1|CCDS6199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARFGEF1|CCDS6199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 3 3 3 3 42 38 42 38 3 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717590640 8 70461154 TC T 1827 PASS SULF1 CCDS6204.1 r.? - - Del intronic D 70461154 70461159 1 189 1721.17 - - 4 1 1 SULF1|CCDS6204.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SULF1|CCDS6204.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 8 21 8 0 0 ./. 26 6 29 11 80 45 80 45 29 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717590777 8 70759643 T TG 313 PASS - - - - - Ins - I 70759643 70759646 1 42 585.649 - - 2 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 5 6 6 6 61 68 61 68 6 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717590829 8 70832785 TTC T 360 PASS - - - - - Del - D 70832785 70832804 2 16 323.057 - - 9 1 - - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 3 4 4 64 58 64 58 4 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717591949 8 73221034 TG T 360 PASS - - - - - Del - D 73221034 73221036 1 12 322.455 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 1 8 1 50 42 50 42 8 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717594239 8 77996331 AT A 300 PASS - - - - - Del - D 77996331 77996336 1 10 268.01 - - 4 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 1 4 8 5 69 57 69 57 8 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717594529 8 78541575 GTTGCTTTCAAACT GGTAC 261 PASS - - - - - Complex - DI 78541576 78541588 13 24 0 - - 0 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 7 0 0 54 79 54 79 2 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717595282 8 80430879 GA G 629 PASS - - - - - Del - D 80430879 80430887 1 40 592.272 - - 7 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 7 4 10 5 85 61 85 61 10 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717596991 8 84087611 AAGGGCTAGATATTAAATAAATT A 841 PASS - - - - - Del - D 84087611 84087637 22 234 1561.44 - - 1 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 12 17 11 16 49 59 50 60 12 17 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717598760 8 88206043 AAATAAAGAG A 290 PASS - - - - - Del - D 88206043 88206056 9 36 538.429 - - 1 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 5 7 6 57 89 57 89 7 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717598761 8 88206171 TG T 600 PASS - - - - - Del - D 88206171 88206175 1 27 537.827 - - 3 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 8 2 12 3 83 47 83 47 12 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717599523 8 90060746 TC T 1140 PASS - - - - - Del - D 90060746 90060748 1 80 1021.81 - - 1 1 1 - - ./. 0 0 0 0 12 24 12 24 0 0 ./. 4 15 7 19 58 90 58 90 7 19 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717600218 8 91636961 TAAAA T 664 PASS TMEM64 CCDS34920.2 r.2255_2258delUUUU c.? p.? Del 3'UTR variant D 91636961 91636968 4 54 699.958 - - 6 1 1 TMEM64|CCDS34920.2|r.2255_2258delUUUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TMEM64|CCDS34920.2|r.2255_2258delUUUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 27 21 27 21 0 0 ./. 8 5 9 7 64 61 64 61 9 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717601102 8 93602012 ATG A 360 PASS - - - - - Del - D 93602012 93602028 2 15 321.251 - - 7 1 - - - ./. 0 0 0 0 11 24 11 24 0 0 ./. 2 4 2 6 56 77 56 77 2 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717601386 8 94291367 TTTGTTACC T 261 PASS - - - - - Del - D 94291367 94291377 8 10 484.586 - - 1 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 9 0 11 0 87 59 87 59 11 0 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717601442 8 94444095 TTC T 269 PASS AC011118.2 ENST00000501400 r.? - - Del intronic D 94444095 94444114 2 10 267.408 - - 9 1 1 AC011118.2|ENST00000501400|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC011118.2|ENST00000501400|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 4 1 6 2 58 67 58 67 6 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717601638 8 94775860 C CT 300 PASS TMEM67 CCDS47893.1 r.? - - Ins intronic I 94775860 94775870 1 6 266.204 - - 9 1 1 TMEM67|CCDS47893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM67|CCDS47893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 21 20 21 0 0 ./. 5 0 7 0 107 93 107 93 7 0 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717603358 8 97682565 TG T 360 PASS ENSG00000104324 CCDS6273.1 r.? - - Del intronic D 97682565 97682568 1 16 321.251 - - 2 1 - ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 28 19 28 0 0 ./. 3 3 5 6 85 94 85 94 5 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717603970 8 98821194 G GA 269 PASS LAPTM4B CCDS6275.1 r.? - - Ins intronic I 98821194 98821200 1 6 259.582 - - 5 1 1 LAPTM4B|CCDS6275.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LAPTM4B|CCDS6275.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 5 0 8 2 74 81 76 81 8 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717605772 8 102156183 GTGCAGTGGACTCTGTACTCTGATGAGGCCTCAGGAGGTGTGGTCAGAGAATCAACACCAGATGGTCCTAGAAGAACTGATTGTGAACTGTTATTGTCAAAGAAATCATCATAGGAGAACTGTAACTGTTGGTCAATCTGCTGATGTTTTATTCATGCACTTCATTATTCAGTCAAGAAACTTTTTTTGTATTAGATTCTGAGAACATAGAGATGGGCAAATTACCATCCTGCCCTCTAGGACCCCACATTTCTGT G 377 PASS - - - - - Del - D 102156183 102156444 255 54 699.958 - - 1 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 8 5 0 0 75 58 83 63 8 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717606228 8 103109763 ATGTAGATGC A 319 PASS NCALD CCDS6292.1 r.? - - Del intronic D 103109763 103109776 9 36 591.67 - - 1 1 1 NCALD|CCDS6292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NCALD|CCDS6292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 8 3 10 3 87 63 87 63 10 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717606647 8 103692646 AG A 567 PASS - - - - - Del - D 103692646 103692648 1 40 589.262 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 7 7 12 65 65 65 65 7 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717606798 8 103896386 GGCAGGAGAA GTAC 261 PASS - - - - - Complex - DI 103896387 103896395 9 28 0 - - 0 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 6 3 0 0 75 67 75 67 6 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717607796 8 105793921 AG A 420 PASS - - - - - Del - D 105793921 105793924 1 18 376.9 - - 2 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 2 8 2 80 63 80 63 8 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717608062 8 106274394 TGA T 1020 PASS - - - - - Del - D 106274394 106274398 2 84 912.921 - - 1 1 1 - - ./. 0 0 0 0 13 24 13 24 0 0 ./. 6 11 9 12 78 90 78 90 9 12 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717610182 8 110659013 ATCGTGGACTTTTTTC A 377 PASS ENSG00000147642 CCDS47912.1 r.? - - Del intronic D 110659013 110659031 15 44 692.733 - - 1 1 1 ENSG00000147642|CCDS47912.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 AC079061.3|ENST00000499579|r.1776_1790delUCGUGGACUUUUUUC|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 20 16 20 16 0 0 ./. 3 10 3 10 67 78 67 78 3 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717610590 8 111643219 GGCTCAT G 435 PASS - - - - - Del - D 111643219 111643228 6 70 804.031 - - 1 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 9 6 9 8 71 77 71 77 9 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717610999 8 112482534 TG T 449 PASS - - - - - Del - D 112482534 112482536 1 9 407.865 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 8 0 20 0 75 69 75 69 20 0 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717611417 8 113422073 G GT 397 PASS CSMD3 CCDS6315.1 r.? - - Ins intronic I 113422073 113422083 1 18 372.686 - - 9 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 25 13 25 0 0 ./. 2 5 3 5 72 75 72 76 3 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717613058 8 117080227 CCT C 420 PASS AF130342.1 ENST00000505156 r.? - - Del intronic D 117080227 117080244 2 20 376.298 - - 8 1 1 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 18 23 18 0 0 ./. 3 4 3 6 80 86 80 86 3 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717613556 8 118018174 AAAGT A 509 PASS SLC30A8 CCDS6322.1 r.? - - Del intronic D 118018174 118018184 4 30 484.586 - - 2 1 1 SLC30A8|CCDS6322.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC30A8|CCDS6322.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 5 4 7 7 71 88 71 88 7 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717615350 8 121523154 A AG 480 PASS MTBP CCDS6333.1 r.? - - Ins intronic I 121523154 121523155 1 24 416.896 - - 0 1 1 MTBP|CCDS6333.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTBP|CCDS6333.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 5 3 7 4 63 94 63 94 7 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717615451 8 121732380 ACCTAT A 358 PASS SNTB1 CCDS6334.1 r.? - - Del intronic D 121732380 121732386 5 18 376.9 - - 1 1 1 SNTB1|CCDS6334.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNTB1|CCDS6334.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 10 22 10 0 0 ./. 2 5 2 5 50 84 50 84 2 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717615917 8 122690347 CGAGAG C 360 PASS - - - - - Del - D 122690347 122690355 5 7 323.057 - - 1 1 1 - - ./. 0 0 0 0 20 6 20 6 0 0 ./. 6 0 10 1 65 67 65 67 10 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717615922 8 122693307 ATGGTGCAGCATC A 1450 PASS - - - - - Del - D 122693307 122693321 12 672 2683.72 - - 1 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 27 23 29 23 66 51 66 53 29 25 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717617059 8 124704122 TAC T 360 PASS ANXA13 CCDS34939.1 r.? - - Del intronic D 124704122 124704137 2 16 320.649 - - 7 1 1 ANXA13|CCDS34939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANXA13|CCDS34939.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 3 3 4 4 78 65 78 65 4 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717617083 8 124750663 TTAAGGGAGAACATGTGATATTTGTTA T 261 PASS ANXA13 CCDS34939.1 r.? - - Del upstream D 124750663 124750714 26 30 482.78 - - 1 1 1 ANXA13|CCDS34939.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ANXA13|CCDS34939.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 16 18 16 18 0 0 ./. 4 5 1 3 51 77 54 79 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717617572 8 125677198 ATTTTAGTTGGCAGGATTT A 348 PASS MTSS1 CCDS6353.1 r.? - - Del intronic D 125677198 125677221 18 40 644.911 - - 1 1 1 MTSS1|CCDS6353.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTSS1|CCDS6353.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 11 20 11 0 0 ./. 3 9 4 9 91 85 91 85 4 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717619118 8 128564785 C CT 420 PASS - - - - - Ins - I 128564785 128564795 1 18 371.482 - - 9 1 1 - - ./. 0 0 0 0 20 12 20 13 0 0 ./. 2 5 4 5 84 86 86 86 4 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717622121 8 134897584 TAAGTCTGAGAAAGAGCC T 290 PASS - - - - - Del - D 134897584 134897606 17 32 533.613 - - 1 1 1 - - ./. 0 0 0 0 24 11 24 11 0 0 ./. 7 3 5 4 87 58 87 58 7 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717622293 8 135382009 T TG 300 PASS - - - - - Ins - I 135382009 135382013 1 10 261.388 - - 3 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 1 5 3 70 60 70 61 5 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717622613 8 136240510 CT C 540 PASS - - - - - Del - D 136240510 136240512 1 24 477.963 - - 1 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 2 7 2 8 53 48 53 48 2 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717622771 8 136693647 TCTGCTGG T 1479 PASS - - - - - Del - D 136693647 136693656 7 682 2735.15 - - 1 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 30 21 41 27 67 47 67 47 41 27 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717622871 8 136949438 TGATGGCTACAGTCACTAGGTGGTAGGGATTTCTCAGCTTCATTATAATCTCAAGG T 261 PASS - - - - - Del - D 136949438 136949501 55 30 484.586 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 4 0 0 45 35 50 39 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717623360 8 138203742 GTGAATCAGTATTGAGAATACGGTCTGAATGGTGCTATTT G 551 PASS - - - - - Del - D 138203742 138203784 39 104 1023.02 - - 1 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 12 7 7 1 44 53 49 59 12 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717624465 8 140596680 GT G 360 PASS - - - - - Del - D 140596680 140596682 1 16 322.455 - - 1 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 3 3 5 3 52 40 52 40 5 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717629177 9 8277542 ATTTC A 600 PASS - - - - - Del - D 8277542 8277549 4 32 539.795 - - 1 1 1 - - ./. 0 0 0 0 22 23 22 23 0 0 ./. 3 7 4 8 23 30 23 30 4 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717630855 9 13276387 CTGTACTTATATAA C 261 PASS - - - - - Del - D 13276387 13276401 13 28 485.695 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 6 3 6 23 31 23 31 3 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717631313 9 14841512 ATTTCTCCACCA ATTCAT 319 PASS FREM1 CCDS47952.1 r.2393_2403delUGGUGGAGAAAinsaugaa c.1803_1813delTGGTGGAGAAAinsATGAA p.F601_E604delinsL* Complex nonsense DI 14841513 14841523 11 40 0 - - 0 1 1 FREM1|CCDS47952.1|r.2393_2403delUGGUGGAGAAAinsaugaa|c.1803_1813delTGGTGGAGAAAinsATGAA|p.F601_E604delinsL*|protein_coding:CDS:exon:indel:inframe_variant:stop_gained|SO:0000010:SO:0000316:SO:0000147:SO:1000032:SO:0001650:SO:0001587 FREM1|CCDS47952.1|r.2393_2403delUGGUGGAGAAAinsaugaa|c.1803_1813delTGGTGGAGAAAinsATGAA|p.F601_E604delinsL*|protein_coding:CDS:exon:indel:inframe_variant:stop_gained|SO:0000010:SO:0000316:SO:0000147:SO:1000032:SO:0001650:SO:0001587 ./. 0 0 0 0 16 25 16 25 0 0 ./. 4 7 0 0 21 26 22 27 4 7 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717631338 9 14912399 ACAA AG 985 PASS FREM1 CCDS47952.1 r.? - - Complex upstream DI 14912400 14912402 3 110 0 - - 0 1 1 FREM1|CCDS47952.1|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 FREM1|CCDS47952.1|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 ./. 0 0 0 0 22 17 22 17 0 0 ./. 9 10 0 0 32 26 32 26 9 10 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717631465 9 15262634 GAAAA G 418 PASS TTC39B CCDS6477.1 r.? - - Del intronic D 15262634 15262640 4 21 432.799 - - 5 1 1 TTC39B|CCDS6477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC39B|CCDS6477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 2 6 3 6 27 23 27 23 3 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717631850 9 16577907 A AG 300 PASS BNC2 CCDS6482.2 r.? - - Ins intronic I 16577907 16577908 1 6 267.489 - - 0 1 1 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BNC2|CCDS6482.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 15 0 0 ./. 0 5 0 5 17 30 17 30 0 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717632128 9 17105127 TA T 840 PASS - - - - - Del - D 17105127 17105131 1 63 757.399 - - 3 1 1 - - ./. 0 0 0 0 32 23 32 23 0 0 ./. 8 6 13 9 27 26 27 26 13 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717633126 9 20225943 A AAG 300 PASS - - - - - Ins - I 20225943 20225954 2 6 264.479 - - 5 1 1 - - ./. 0 0 0 0 23 6 23 6 0 0 ./. 5 0 6 2 34 12 35 12 6 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717635144 9 27976921 AT A 749 PASS LINGO2 CCDS6524.1 r.? - - Del intronic D 27976921 27976931 1 56 702.095 - - 9 1 1 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 7 6 7 11 23 28 23 28 7 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717640211 9 66465718 C CTTCAACAG 278 PASS - - - - - Ins - I 66465718 66465727 8 24 591.401 - - 1 1 1 - - ./. 0 0 0 0 99 84 99 87 0 0 ./. 11 1 11 1 191 108 192 108 11 1 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717648306 9 87571777 TC T 300 PASS NTRK2 CCDS6671.1 r.? - - Del intronic D 87571777 87571779 1 6 260.265 - - 1 1 1 NTRK2|CCDS6671.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTRK2|CCDS6671.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 5 0 6 0 18 26 18 26 6 0 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717650047 9 94158431 AG A 420 PASS - - - - - Del - D 94158431 94158433 1 20 378.7 - - 1 1 1 - - ./. 0 0 0 0 18 30 18 30 0 0 ./. 4 3 6 3 28 33 28 33 6 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717658809 9 125186113 CCCA CTT 300 PASS - - - - - Complex - DI 125186114 125186116 3 12 0 - - 0 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 3 2 0 0 16 20 16 20 3 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717663857 X 5466647 CCT C 629 PASS - - - - - Del - D 5466647 5466652 2 36 596.218 - - 2 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 8 3 9 11 31 11 31 3 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717666500 X 30711653 C CTTTATTTA 319 PASS GK CCDS48090.1 r.? - - Ins intronic I 30711653 30711665 8 22 545.043 - - 2 1 1 GK|CCDS48090.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GK|CCDS48090.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 10 1 10 2 29 28 29 28 11 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717667140 X 33761012 CCAAGAAGAGATGTCGGTTTATTTAATGTACTTTATTAAG C 319 PASS - - - - - Del - D 33761012 33761057 39 36 597.422 - - 1 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 8 3 2 0 27 16 33 19 8 3 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717669061 X 46919763 CTCTT C 329 PASS PHF16 CCDS14271.1 r.4055_4058delUCUU c.? p.? Del 3'UTR variant D 46919763 46919772 4 15 326.195 - - 2 1 1 PHF16|CCDS14271.1|r.4055_4058delUCUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PHF16|CCDS14271.1|r.4055_4058delUCUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 4 4 4 22 13 22 13 4 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717669557 X 50652804 GGCCGA G 809 PASS BMP15 CCDS14334.1 r.? - - Del upstream D 50652804 50652813 5 63 761.121 - - 1 1 1 BMP15|CCDS14334.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 BMP15|CCDS14334.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 8 8 8 0 0 ./. 8 6 8 8 18 12 18 12 8 8 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717670008 X 54458829 ATGGCAAGC A 290 PASS - - - - - Del - D 54458829 54458838 8 35 543.658 - - 1 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 4 6 5 6 14 8 14 8 5 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717674050 X 87953230 GACAAAGTGC G 464 PASS - - - - - Del - D 87953230 87953241 9 80 869.853 - - 1 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 7 9 7 10 10 21 10 22 7 11 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717676506 X 104462774 TCCCAGAACTTAAAAAAAAAATCTGTCCA T 319 PASS IL1RAPL2 CCDS14517.1 r.? - - Del intronic D 104462774 104462807 28 30 595.616 - - 1 1 1 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 9 2 8 0 12 2 13 4 9 2 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717679461 X 126668457 TAGCCAGCA T 377 PASS - - - - - Del - D 126668457 126668468 8 54 706.755 - - 1 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 8 5 10 5 17 10 18 10 11 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717679489 X 126792441 TC T 420 PASS - - - - - Del - D 126792441 126792444 1 20 380.561 - - 2 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 4 3 5 4 8 13 8 13 5 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717680931 X 137624772 A AT 420 PASS - - - - - Ins - I 137624772 137624780 1 20 371.53 - - 7 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 4 5 6 19 20 19 20 5 6 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717680967 X 138078839 AG A 300 PASS FGF13 ENST00000436198 r.? - - Del intronic D 138078839 138078841 1 12 270.625 - - 1 1 1 FGF13|ENST00000436198|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF13|ENST00000436198|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 2 3 3 4 12 16 12 16 3 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717680997 X 138239940 TGGGTA T 509 PASS FGF13 ENST00000436198 r.? - - Del intronic D 138239940 138239949 5 24 483.874 - - 1 1 1 FGF13|ENST00000436198|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF13|ENST00000436198|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 7 2 7 4 19 20 19 20 7 4 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717681558 X 141744189 CCCTTCCTTGCA C 493 PASS - - - - - Del - D 141744189 141744205 11 70 924.219 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 13 7 14 12 27 12 27 7 14 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717682204 X 145280667 GTAAAATTATGAAAAAAGATT G 290 PASS - - - - - Del - D 145280667 145280693 20 36 543.658 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 5 5 5 23 9 23 9 5 5 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717682387 X 146174570 C CA 1320 PASS - - - - - Ins - I 146174570 146174579 1 135 1182.2 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 16 0 0 ./. 8 14 10 18 14 29 14 29 10 18 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717683527 X 153599938 AAGGATGCTCCCAGCCCCGCAGCCTCGCGTTGGCGCTGCAGGAAACGCGCCCTAGAGCGAGGAAAGGCTGAGCAGTGTCTGGCGCGGGACTGCTTGGCCTGCAGCCGGCGCGCCTTACAAGGGACTTTCCTTCCCCAGGGCCCCTGCGGGGGGTGGGGTGGCTCTCTTCCCTAAGTCACTTGGGCTCTGCCCCGTCCCTGCACATCCCTACCCCCCGCCGTCATCCCCCTTCCCCGGGCCCCCAGGGCCTAGGGTTCCCCGGCGGCATCCCCGTCCGCCGGCCCGGC A 319 PASS FLNA CCDS44021.1 r.? - - Del intronic D 153599938 153600227 286 30 593.207 - - 1 1 1 FLNA|CCDS44021.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FLNA|CCDS44021.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 8 4 8 0 0 ./. 2 9 0 0 5 5 7 14 2 9 1 1 1 1 1 1 1 1 2662688 PD18007a PD18007b 2717686288 Y 16559360 TG T 360 PASS - - - - - Del - D 16559360 16559363 1 15 328.372 - - 2 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 2 5 5 16 12 16 12 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720767935 1 7050746 AC A 360 PASS CAMTA1 CCDS30576.1 r.? - - Del intronic D 7050746 7050752 1 15 321.002 - - 5 1 1 CAMTA1|CCDS30576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMTA1|CCDS30576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 1 16 1 16 0 0 ./. 2 4 2 7 5 39 5 39 2 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720771376 1 16979401 T TAA 305 PASS AL355149.1 ENST00000515775 r.? - - Ins intronic I 16979401 16979409 2 10 472.471 - - 7 1 1 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 15 20 15 0 0 ./. 9 0 10 0 45 26 45 26 10 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720772133 1 18974486 TG T 300 PASS PAX7 CCDS44074.1 r.? - - Del intronic D 18974486 18974489 1 12 263.688 - - 2 1 1 PAX7|CCDS44074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAX7|CCDS44074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 2 3 4 3 23 16 23 16 4 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720773695 1 23503576 GT G 360 PASS - - - - - Del - D 23503576 23503578 1 7 321.604 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 6 0 7 0 29 14 29 14 7 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720775832 1 29472723 AAACTCT A 261 PASS SFRS4 CCDS333.1 r.? - - Del downstream D 29472723 29472736 6 10 483.309 - - 2 1 1 SFRS4|CCDS333.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SFRS4|CCDS333.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 21 20 21 20 0 0 ./. 9 0 10 0 33 22 33 22 10 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720775833 1 29472870 TGATCCCA T 261 PASS SFRS4 CCDS333.1 r.? - - Del downstream D 29472870 29472881 7 10 483.309 - - 1 1 1 SFRS4|CCDS333.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SFRS4|CCDS333.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 19 14 19 0 0 ./. 9 0 10 0 35 27 35 27 10 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720777336 1 33751945 T TC 300 PASS ZNF362 CCDS377.1 r.? - - Ins intronic I 33751945 33751948 1 12 265.494 - - 2 1 1 ZNF362|CCDS377.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF362|CCDS377.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 9 0 0 ./. 2 3 2 3 35 28 35 31 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720777404 1 33934388 TC T 720 PASS ZSCAN20 CCDS41300.1 r.? - - Del upstream D 33934388 33934394 1 45 640.197 - - 5 1 1 ZSCAN20|CCDS41300.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZSCAN20|CCDS41300.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 19 16 19 16 0 0 ./. 8 4 9 8 28 32 28 32 9 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720777872 1 35529583 GC G 360 PASS ZMYM1 ENST00000417119 r.? - - Del intronic D 35529583 35529587 1 12 322.206 - - 3 1 1 ZMYM1|ENST00000417119|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZMYM1|ENST00000417119|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 1 5 2 6 27 46 27 46 2 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720779123 1 38833722 TTC T 300 PASS - - - - - Del - D 38833722 38833741 2 10 268.505 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 4 1 4 44 39 44 39 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720780467 1 41714477 CCA C 720 PASS - - - - - Del - D 41714477 41714484 2 45 644.411 - - 3 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 8 4 8 4 39 31 39 31 8 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720783719 1 51045739 CA C 420 PASS FAF1 CCDS554.1 r.? - - Del intronic D 51045739 51045746 1 18 374.703 - - 6 1 1 FAF1|CCDS554.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAF1|CCDS554.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 17 5 17 0 0 ./. 2 5 4 10 10 37 10 37 4 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720785464 1 55266040 CA C 660 PASS TTC22 CCDS44152.1 r.? - - Del intronic D 55266040 55266045 1 36 588.302 - - 4 1 1 TTC22|CCDS44152.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC22|CCDS44152.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 23 27 23 0 0 ./. 8 3 9 6 46 34 46 34 9 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720786553 1 58645479 TG T 480 PASS DAB1 CCDS607.1 r.? - - Del intronic D 58645479 58645481 1 21 424.791 - - 1 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 2 8 3 46 26 46 26 8 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720787705 1 61974502 T TTA 269 PASS - - - - - Ins - I 61974502 61974515 2 10 262.484 - - 6 1 - - - ./. 0 0 0 0 6 4 7 4 0 0 ./. 4 1 6 2 27 16 27 16 6 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720789141 1 65007997 A AT 480 PASS CACHD1 CCDS628.2 r.? - - Ins intronic I 65007997 65008007 1 24 422.383 - - 9 1 1 CACHD1|CCDS628.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACHD1|CCDS628.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 13 6 15 0 0 ./. 3 5 5 7 30 39 30 39 5 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720789356 1 65590812 CTGGATTCA C 398 PASS AC099680.1 ENST00000500320 r.? - - Del intronic D 65590812 65590827 8 77 855.603 - - 1 1 1 AC099680.1|ENST00000500320|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC099680.1|ENST00000500320|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 10 6 11 4 46 27 46 30 11 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720789848 1 67211497 AAT A 960 PASS SGIP1 CCDS30744.1 r.? - - Del downstream D 67211497 67211501 2 72 859.215 - - 1 1 1 SGIP1|CCDS30744.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SGIP1|ENST00000371038|r.5473_5474delAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 7 19 7 19 0 0 ./. 5 11 10 16 30 41 30 41 10 16 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720794335 1 79914653 G GA 300 PASS - - - - - Ins - I 79914653 79914663 1 10 263.688 - - 9 1 1 - - ./. 0 0 0 0 15 15 15 16 0 0 ./. 1 4 1 4 27 32 27 32 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720797014 1 86953112 AGT A 300 PASS CLCA1 CCDS709.1 r.? - - Del intronic D 86953112 86953118 2 10 268.505 - - 2 1 1 CLCA1|CCDS709.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLCA1|CCDS709.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 1 4 1 4 28 29 28 29 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720798115 1 90462381 ATATAT A 805 PASS ZNF326 CCDS727.1 r.? - - Del intronic D 90462381 90462390 5 77 856.205 - - 1 1 1 ZNF326|CCDS727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF326|CCDS727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 10 6 14 8 52 35 52 35 14 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720800576 1 96493228 GA G 480 PASS - - - - - Del - D 96493228 96493230 1 21 424.189 - - 1 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 2 6 4 7 25 37 25 37 4 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720800846 1 97289889 GAT G 900 PASS - - - - - Del - D 97289889 97289895 2 70 805.514 - - 2 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 9 8 13 28 28 28 28 8 13 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720801435 1 99251792 AG A 300 PASS - - - - - Del - D 99251792 99251795 1 6 268.505 - - 2 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 5 0 5 1 32 22 32 22 5 1 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720808623 1 119764885 C CA 540 PASS - - - - - Ins - I 119764885 119764893 1 30 477.89 - - 7 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 5 5 5 32 33 32 34 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720816788 1 157566168 CGTAGGCGAAGA C 348 PASS FCRL4 CCDS1166.1 r.? - - Del intronic D 157566168 157566182 11 48 643.809 - - 1 1 1 FCRL4|CCDS1166.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FCRL4|CCDS1166.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 5 7 5 8 39 23 39 23 5 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720816866 1 157861494 AT A 600 PASS - - - - - Del - D 157861494 157861499 1 32 533.397 - - 4 1 1 - - ./. 0 0 0 0 22 18 22 18 0 0 ./. 7 3 9 3 38 36 38 36 9 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720817095 1 158479166 GA G 480 PASS - - - - - Del - D 158479166 158479170 1 25 429.608 - - 3 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 4 5 5 36 32 36 32 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720817730 1 160293553 GC G 660 PASS COPA CCDS1202.1 r.? - - Del intronic D 160293553 160293556 1 36 590.71 - - 2 1 1 COPA|CCDS1202.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COPA|CCDS1202.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 19 9 19 0 0 ./. 8 3 8 10 32 41 32 41 8 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720817866 1 160716568 GTCTTACATGATTATTCATAAGA G 406 PASS SLAMF7 CCDS1209.1 r.? - - Del intronic D 160716568 160716591 22 64 751.813 - - 1 1 1 SLAMF7|CCDS1209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLAMF7|CCDS1209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 7 7 6 5 26 22 27 25 7 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720821569 1 170245975 ATCTGATAGT A 319 PASS - - - - - Del - D 170245975 170245989 9 40 588.904 - - 1 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 7 4 9 5 45 26 45 26 9 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720825574 1 180820310 CAAACTTCTATTTAACTCATGAATTA C 261 PASS XPR1 CCDS1340.1 r.? - - Del intronic D 180820310 180820338 25 30 483.309 - - 1 1 1 XPR1|CCDS1340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XPR1|CCDS1340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 4 5 4 3 32 27 32 29 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720825906 1 181692568 TACTCATCAACAATTAATGCAGAAG T 725 PASS CACNA1E ENST00000367573 r.? - - Del intronic D 181692568 181692596 24 176 1338.31 - - 1 1 1 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 15 10 10 9 34 39 39 40 15 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720828623 1 189171542 GAGAT G 1138 PASS - - - - - Del - D 189171542 189171549 4 120 1074.02 - - 1 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 11 9 12 14 39 49 39 49 12 14 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720828939 1 190187695 A AT 600 PASS FAM5C CCDS1373.1 r.? - - Ins intronic I 190187695 190187703 1 32 529.785 - - 7 1 1 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 20 13 20 0 0 ./. 3 7 10 8 32 32 32 32 10 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720829110 1 190653028 TTATC T 689 PASS - - - - - Del - D 190653028 190653036 4 40 643.207 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 9 4 12 22 32 22 32 4 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720829728 1 192461978 CAG C 300 PASS - - - - - Del - D 192461978 192461994 2 12 268.505 - - 7 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 2 4 37 34 37 34 2 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720830047 1 193438783 AAC A 269 PASS - - - - - Del - D 193438783 193438787 2 10 267.301 - - 1 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 1 4 0 0 41 41 41 41 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720831971 1 198627699 TG T 600 PASS PTPRC CCDS1397.1 r.? - - Del intronic D 198627699 198627702 1 32 537.01 - - 2 1 1 PTPRC|CCDS1397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRC|CCDS1397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 7 3 9 5 40 55 40 55 9 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720835754 1 208358093 TAC T 329 PASS PLXNA2 CCDS31013.1 r.? - - Del intronic D 208358093 208358112 2 16 313.175 - - 9 1 1 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 24 14 24 0 0 ./. 3 3 3 2 30 34 30 34 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720835801 1 208533604 AGCCCAGGCTC A 319 PASS - - - - - Del - D 208533604 208533618 10 40 590.108 - - 1 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 7 4 7 33 37 33 37 4 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720835832 1 208627374 A AT 449 PASS - - - - - Ins - I 208627374 208627381 1 25 424.791 - - 6 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 4 4 7 5 50 36 52 36 7 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720835836 1 208628146 CAGAACAGGCT C 261 PASS - - - - - Del - D 208628146 208628158 10 24 481.502 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 7 2 9 2 35 21 35 21 9 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720836481 1 210493418 TC T 300 PASS - - - - - Del - D 210493418 210493420 1 6 260.076 - - 1 1 - - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 5 0 9 0 49 35 49 35 9 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720839620 1 218286189 GAATTAAA G 377 PASS - - - - - Del - D 218286189 218286200 7 44 696.908 - - 1 1 1 - - ./. 0 0 0 0 6 19 6 19 0 0 ./. 3 10 4 13 31 42 31 42 4 13 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720840695 1 220825002 AAAAATGACTCCAGTCAT A 290 PASS MARK1 CCDS31029.2 r.? - - Del intronic D 220825002 220825022 17 36 537.009 - - 1 1 1 MARK1|CCDS31029.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MARK1|CCDS31029.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 5 5 5 5 41 40 41 40 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720840968 1 221573849 GAAACAAA G 261 PASS - - - - - Del - D 221573849 221573857 7 24 483.309 - - 1 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 7 2 7 2 36 44 36 44 7 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720843083 1 226519670 C CA 300 PASS - - - - - Ins - I 226519670 226519680 1 6 264.892 - - 9 1 1 - - ./. 0 0 0 0 13 14 14 14 0 0 ./. 0 5 0 8 42 57 43 58 0 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720844380 1 229525762 TGGTCC T 1167 PASS - - - - - Del - D 229525762 229525769 5 130 1125.91 - - 1 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 12 9 13 10 38 25 38 25 13 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720849344 1 240586746 TG T 569 PASS FMN2 CCDS31069.2 r.? - - Del intronic D 240586746 240586748 1 27 537.01 - - 1 1 1 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 15 23 15 0 0 ./. 8 2 9 4 49 40 49 40 9 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720857328 10 8105044 TTTTG T 269 PASS GATA3 CCDS31143.1 r.? - - Del intronic D 8105044 8105058 4 10 265.341 - - 3 1 1 GATA3|CCDS31143.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GATA3|CCDS31143.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 1 4 3 7 35 47 35 47 3 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720858169 10 9894628 A AT 360 PASS - - - - - Ins - I 9894628 9894635 1 15 319.854 - - 6 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 2 4 5 5 27 44 27 44 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720859304 10 12474045 TG T 360 PASS CAMK1D CCDS7091.1 r.? - - Del intronic D 12474045 12474048 1 16 322.262 - - 2 1 1 CAMK1D|CCDS7091.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMK1D|CCDS7091.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 3 4 5 22 34 22 34 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720859440 10 12766272 GT G 720 PASS CAMK1D CCDS7091.1 r.? - - Del intronic D 12766272 12766278 1 49 645.728 - - 5 1 1 CAMK1D|CCDS7091.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMK1D|CCDS7091.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 19 22 19 0 0 ./. 6 6 9 8 33 35 33 35 9 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720861493 10 17171192 GT G 660 PASS CUBN CCDS7113.1 r.245delA c.179delA p.N60fs*14 Del frameshift D 17171192 17171197 1 40 591.817 - - 4 1 1 CUBN|CCDS7113.1|r.245delA|c.179delA|p.N60fs*14|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CUBN|CCDS7113.1|r.245delA|c.179delA|p.N60fs*14|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 17 10 17 10 0 0 ./. 7 4 7 5 38 28 38 28 7 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720864102 10 24250844 CTG C 540 PASS KIAA1217 CCDS41496.1 r.? - - Del intronic D 24250844 24250850 2 30 485.199 - - 2 1 1 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1217|CCDS41496.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 16 22 16 0 0 ./. 5 4 6 5 28 44 28 44 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720867693 10 31805663 CT C 360 PASS ZEB1 CCDS44370.1 r.? - - Del intronic D 31805663 31805670 1 16 323.466 - - 6 1 1 ZEB1|CCDS44370.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZEB1|CCDS44370.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 3 3 3 24 23 24 23 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720870782 10 39105542 A ATCCATTCCATTCAATTCCATTGAATTCCATTCCATTCCATTCAATTCCATTGAATTCCAT 290 PASS - - - - - Ins - I 39105542 39105584 60 32 177.874 - - 0 1 1 - - ./. 0 0 0 0 34 48 34 48 0 0 ./. 3 7 0 0 71 114 71 117 3 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720874915 10 52521426 G GACAA 252 PASS ASAH2B ENST00000374007 r.? - - Ins downstream I 52521426 52521430 4 10 459.31 - - 0 1 1 ASAH2B|ENST00000374007|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ASAH2B|ENST00000374007|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 16 11 16 0 0 ./. 9 0 9 0 45 27 45 27 9 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720883974 10 75533271 TGAG T 360 PASS FUT11 CCDS7333.1 r.1076_1078delGAG c.1033_1035delGAG p.E346delE Del inframe D 75533271 75533278 3 15 323.466 - - 2 1 1 FUT11|CCDS7333.1|r.1076_1078delGAG|c.1033_1035delGAG|p.E346delE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 FUT11|CCDS7333.1|r.1076_1078delGAG|c.1033_1035delGAG|p.E346delE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 20 20 20 20 0 0 ./. 4 2 5 2 30 17 30 17 5 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720884851 10 78204824 TG T 300 PASS C10orf11 CCDS7351.1 r.? - - Del intronic D 78204824 78204827 1 10 266.545 - - 2 1 1 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 8 25 8 0 0 ./. 4 1 6 1 35 7 35 7 6 1 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720891498 10 98322078 GAAGCC G 329 PASS TM9SF3 CCDS7450.1 r.? - - Del intronic D 98322078 98322088 5 15 322.864 - - 1 1 1 TM9SF3|CCDS7450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TM9SF3|CCDS7450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 4 3 6 25 28 25 28 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720891764 10 99071296 AG A 300 PASS - - - - - Del - D 99071296 99071299 1 12 267.147 - - 2 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 2 3 2 4 33 32 33 32 2 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720892201 10 100432609 G GA 300 PASS HPSE2 CCDS7477.1 r.? - - Ins intronic I 100432609 100432619 1 10 266.545 - - 9 1 1 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 23 12 23 0 0 ./. 4 1 4 1 35 31 36 31 4 1 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720894012 10 105243916 TC T 329 PASS CALHM3 CCDS44476.1 r.? - - Del upstream D 105243916 105243920 1 15 323.466 - - 3 1 1 CALHM3|CCDS44476.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CALHM3|CCDS44476.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 20 7 20 7 0 0 ./. 4 2 6 2 26 20 26 20 6 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720896799 10 114863050 TC T 900 PASS TCF7L2 CCDS7576.1 r.? - - Del intronic D 114863050 114863053 1 70 804.451 - - 2 1 1 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 6 9 9 14 21 28 21 28 9 14 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720898377 10 120480765 TTTAA TG 658 PASS C10orf46 CCDS41570.1 r.? - - Complex intronic DI 120480766 120480769 4 48 0 - - 0 1 1 C10orf46|CCDS41570.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 C10orf46|CCDS41570.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 7 5 0 0 28 20 28 20 7 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720901358 10 129370243 ACATAT A 269 PASS - - - - - Del - D 129370243 129370249 5 12 269.555 - - 1 1 1 - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 3 2 3 3 22 19 22 19 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720902162 10 132325279 T TA 360 PASS - - - - - Ins - I 132325279 132325286 1 12 319.854 - - 6 1 1 - - ./. 0 0 0 0 18 14 18 15 0 0 ./. 5 1 6 3 27 22 27 22 6 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720904387 11 4071293 TC T 569 PASS STIM1 CCDS7749.1 r.? - - Del intronic D 4071293 4071297 1 32 540.166 - - 3 1 1 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 15 30 15 0 0 ./. 3 7 5 9 26 23 26 23 5 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720904388 11 4071976 TG T 780 PASS STIM1 CCDS7749.1 r.? - - Del intronic D 4071976 4071978 1 50 702.216 - - 1 1 1 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 24 12 24 0 0 ./. 4 9 5 14 18 35 18 35 5 14 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720904389 11 4072322 G GA 480 PASS STIM1 CCDS7749.1 r.? - - Ins intronic I 4072322 4072332 1 21 427.316 - - 9 1 1 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 2 6 7 24 20 24 20 6 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720909014 11 16593155 TTTTG T 1349 PASS - - - - - Del - D 16593155 16593184 4 136 1235.16 - - 7 1 - - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 16 8 17 29 43 29 43 9 17 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720912620 11 25913836 T TA 300 PASS - - - - - Ins - I 25913836 25913845 1 12 267.073 - - 8 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 3 6 5 27 21 27 21 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720913754 11 29070834 TGCAGA T 556 PASS - - - - - Del - D 29070834 29070841 5 56 701.614 - - 1 1 1 - - ./. 0 0 0 0 22 10 22 10 0 0 ./. 7 6 7 6 41 25 41 25 7 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720915000 11 32962396 CT C 720 PASS QSER1 CCDS41631.1 r.? - - Del intronic D 32962396 32962402 1 45 646.393 - - 5 1 1 QSER1|CCDS41631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 QSER1|CCDS41631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 1 24 1 24 0 0 ./. 4 8 7 12 23 34 23 34 7 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720915660 11 34521124 CAGAATGCAAAATTTGCAGG C 261 PASS ELF5 CCDS7892.1 r.? - - Del intronic D 34521124 34521144 19 30 484.945 - - 1 1 1 ELF5|CCDS7892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELF5|CCDS7892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 4 5 4 40 22 40 22 5 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720917693 11 40188235 TGCA T 449 PASS LRRC4C CCDS31464.1 r.? - - Del intronic D 40188235 40188241 3 16 432.133 - - 1 1 1 LRRC4C|CCDS31464.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LRRC4C|CCDS31464.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 1 7 2 9 32 30 32 30 2 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720917961 11 40926295 ATC A 300 PASS - - - - - Del - D 40926295 40926310 2 12 270.083 - - 7 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 2 3 2 3 28 32 28 32 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720921839 11 55436379 TAG T 900 PASS OR4C6 CCDS31506.1 r.? - - Del downstream D 55436379 55436382 2 66 810.249 - - 1 1 1 OR4C6|CCDS31506.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OR4C6|CCDS31506.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 19 17 19 0 0 ./. 5 10 6 13 23 42 23 42 6 13 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720922472 11 57496795 G GT 300 PASS TMX2 CCDS7967.1 r.? - - Ins intronic I 57496795 57496805 1 12 261.654 - - 9 1 1 TMX2|CCDS7967.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMX2|CCDS7967.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 3 4 3 43 39 43 39 4 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720922912 11 58745721 AATTTTTTCATC A 348 PASS - - - - - Del - D 58745721 58745739 11 48 648.199 - - 1 1 1 - - ./. 0 0 0 0 22 7 22 7 0 0 ./. 7 5 13 5 36 39 36 39 13 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720923882 11 61818653 G GT 1380 PASS - - - - - Ins - I 61818653 61818655 1 156 1228.53 - - 1 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 11 12 12 13 26 36 26 36 12 13 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720927423 11 71438675 TCAA T 417 PASS - - - - - Del - D 71438675 71438683 3 24 432.133 - - 2 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 5 3 5 3 34 25 34 25 5 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720929162 11 77009143 GT G 300 PASS - - - - - Del - D 77009143 77009151 1 12 270.083 - - 7 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 2 4 2 35 23 35 23 4 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720929225 11 77170071 TA T 360 PASS PAK1 CCDS44687.1 r.? - - Del intronic D 77170071 77170076 1 15 316.273 - - 4 1 1 PAK1|CCDS44687.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PAK1|CCDS44687.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 17 25 17 0 0 ./. 2 4 2 6 26 26 26 26 2 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720929820 11 79323276 CA C 300 PASS - - - - - Del - D 79323276 79323280 1 12 270.083 - - 3 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 2 4 3 23 20 23 20 4 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720930120 11 80569748 T TA 360 PASS - - - - - Ins - I 80569748 80569750 1 15 319.885 - - 1 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 4 2 4 5 27 20 27 20 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720931106 11 83427112 AATGCCCACC A 290 PASS DLG2 CCDS41696.1 r.? - - Del intronic D 83427112 83427127 9 36 540.166 - - 1 1 1 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 15 22 15 0 0 ./. 5 5 6 5 28 23 28 23 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720932690 11 88351188 CAACTTTTGAGAACTCAACTATGGGATGGAACAATG CAGAGTCTTT 377 PASS GRM5 CCDS44694.1 r.? - - Complex intronic DI 88351189 88351223 35 56 0 - - 0 1 1 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 25 23 25 23 0 0 ./. 7 6 0 0 30 24 33 26 7 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720933537 11 90833572 AT A 269 PASS - - - - - Del - D 90833572 90833576 1 12 259.848 - - 3 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 2 3 1 30 27 30 28 3 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720934312 11 93318040 CTTT C 269 PASS - - - - - Del - D 93318040 93318048 3 12 270.083 - - 7 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 3 4 4 22 34 22 34 4 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720939078 11 107355486 TA T 420 PASS - - - - - Del - D 107355486 107355490 1 18 376.31 - - 3 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 2 5 4 6 34 27 34 27 4 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720940998 11 113194110 GGAGGAT G 435 PASS TTC12 CCDS8360.2 r.211_216delGAGGAU c.160_165delGAGGAT p.D55_E56delDE Del inframe D 113194110 113194119 6 66 810.249 - - 1 1 1 TTC12|CCDS8360.2|r.211_216delGAGGAU|c.160_165delGAGGAT|p.D55_E56delDE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 TTC12|CCDS8360.2|r.211_216delGAGGAU|c.160_165delGAGGAT|p.D55_E56delDE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 10 5 13 16 32 17 32 6 13 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720943605 11 121289968 AC A 420 PASS - - - - - Del - D 121289968 121289970 1 20 378.116 - - 1 1 1 - - ./. 0 0 0 0 12 25 12 25 0 0 ./. 4 3 6 3 29 33 29 33 6 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720944720 11 124338000 CCCTT CA 358 PASS - - - - - Complex - DI 124338001 124338004 4 20 0 - - 0 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 4 0 0 26 32 26 32 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720951433 12 9195105 C CA 720 PASS - - - - - Ins - I 9195105 9195108 1 45 640.658 - - 2 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 8 4 11 6 34 46 35 46 11 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720953927 12 16050801 TAA T 358 PASS STRAP CCDS8676.1 r.? - - Del intronic D 16050801 16050805 2 20 377.932 - - 3 1 1 STRAP|CCDS8676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STRAP|CCDS8676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 3 4 4 13 18 13 18 4 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720959358 12 30387641 ACTTAAAAAAGATTAAGT A 290 PASS - - - - - Del - D 30387641 30387663 17 32 539.902 - - 1 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 7 3 6 3 43 43 44 43 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720960914 12 33517789 TCTAATTATC T 406 PASS - - - - - Del - D 33517789 33517802 9 55 755.863 - - 1 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 4 10 4 11 33 29 33 29 4 11 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720963261 12 43223364 A AT 457 PASS - - - - - Ins - I 43223364 43223372 1 25 427.105 - - 7 1 1 - - ./. 0 0 0 0 19 17 20 17 0 0 ./. 4 4 6 5 40 35 40 35 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720964169 12 46242435 GTTAATCTATTGAT G 319 PASS ARID2 CCDS31783.1 r.? - - Del intronic D 46242435 46242457 13 30 593.291 - - 1 1 1 ARID2|CCDS31783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARID2|CCDS31783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 23 22 23 0 0 ./. 2 9 3 9 28 39 28 39 3 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720964683 12 47790748 TGCATGAGGGCTCTGCCTCCATGACCAAGTACTTCCCACAG T 261 PASS - - - - - Del - D 47790748 47790791 40 28 484.106 - - 1 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 6 2 3 26 27 27 30 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720965210 12 49153507 AG A 300 PASS - - - - - Del - D 49153507 49153509 1 12 262.124 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 2 3 3 4 31 39 31 39 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720966958 12 53565428 GC G 360 PASS CSAD CCDS8848.2 r.? - - Del intronic D 53565428 53565434 1 15 311.298 - - 5 1 1 CSAD|CCDS8848.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSAD|CCDS8848.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 24 15 24 0 0 ./. 2 4 3 7 24 35 24 35 3 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720970306 12 63091596 AATATG A 863 PASS PPM1H CCDS44934.1 r.? - - Del intronic D 63091596 63091603 5 84 971.222 - - 1 1 1 PPM1H|CCDS44934.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPM1H|CCDS44934.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 5 13 6 17 33 42 33 42 6 17 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720970333 12 63151532 C CG 1140 PASS PPM1H CCDS44934.1 r.? - - Ins intronic I 63151532 63151533 1 80 1011.97 - - 0 1 1 PPM1H|CCDS44934.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPM1H|CCDS44934.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 14 22 14 0 0 ./. 4 15 5 18 35 48 36 48 5 18 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720971257 12 65439089 TACTGAATCCTTTC T 464 PASS - - - - - Del - D 65439089 65439105 13 56 863.844 - - 1 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 3 13 3 13 29 44 29 44 3 13 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720974540 12 74767152 GCCTTACTGTCCCTAAGAGTCTGGCATACTGTCTCCAAGCCCCTCCAAATATTCAGATACTAA G 406 PASS - - - - - Del - D 74767152 74767218 62 63 755.863 - - 1 1 1 - - ./. 0 0 0 0 26 19 26 19 0 0 ./. 8 6 0 0 31 29 39 35 8 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720975026 12 76107225 AT A 780 PASS - - - - - Del - D 76107225 76107229 1 56 701.873 - - 3 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 7 6 7 6 34 35 36 36 7 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720975647 12 77755488 CT C 720 PASS - - - - - Del - D 77755488 77755493 1 40 647.883 - - 4 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 9 3 13 8 36 39 36 39 13 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720977002 12 81779589 TTAA T 360 PASS PPFIA2 ENST00000443686 r.? - - Del intronic D 81779589 81779599 3 15 323.941 - - 3 1 1 PPFIA2|ENST00000443686|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPFIA2|ENST00000443686|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 21 18 21 0 0 ./. 2 4 3 5 31 43 31 43 3 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720978371 12 85666054 T TA 840 PASS - - - - - Ins - I 85666054 85666061 1 63 746.832 - - 6 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 6 8 7 8 51 41 52 42 7 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720978393 12 85756247 C CA 1440 PASS - - - - - Ins - I 85756247 85756256 1 168 1265.66 - - 8 1 1 - - ./. 0 0 0 0 18 25 18 25 0 0 ./. 11 13 16 15 49 49 49 49 16 15 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720978569 12 86256822 GTGATATCCCATTTATCATTTTTTAATGTGTCTGTT G 348 PASS - - - - - Del - D 86256822 86256862 35 48 647.883 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 7 5 6 3 37 34 38 36 7 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720979102 12 87785650 AT A 658 PASS - - - - - Del - D 87785650 87785652 1 33 646.679 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 10 2 12 18 47 18 47 2 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720982020 12 95697002 C CA 300 PASS VEZT CCDS44954.1 r.? - - Ins downstream I 95697002 95697012 1 12 257.91 - - 9 1 1 VEZT|CCDS44954.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 VEZT|CCDS44954.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 19 17 19 17 0 0 ./. 2 3 2 3 39 41 39 41 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720983258 12 98720538 TGA T 360 PASS - - - - - Del - D 98720538 98720557 2 12 322.737 - - 9 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 1 5 2 6 34 42 34 42 2 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720983527 12 99369565 TGA T 300 PASS ANKS1B ENST00000329257 r.? - - Del intronic D 99369565 99369581 2 6 269.951 - - 7 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 0 5 0 5 27 24 27 24 0 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720988056 12 111603434 TG T 420 PASS CUX2 CCDS41837.1 r.? - - Del intronic D 111603434 111603440 1 20 377.932 - - 5 1 1 CUX2|CCDS41837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUX2|CCDS41837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 21 18 21 0 0 ./. 3 4 3 5 38 31 38 31 3 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720988632 12 113360517 ACATATCCACTCCTCTT A 290 PASS OAS1 CCDS41838.1 r.? - - Del downstream D 113360517 113360536 16 27 539.902 - - 1 1 1 OAS1|CCDS41838.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OAS1|ENST00000377508|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 8 2 7 26 32 26 33 2 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720996631 12 131574660 TCAGTGA T 435 PASS GPR133 CCDS9272.1 r.? - - Del intronic D 131574660 131574669 6 52 805.639 - - 1 1 1 GPR133|CCDS9272.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR133|CCDS9272.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 12 5 13 28 34 28 34 5 13 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2720998254 13 20514220 CTAAG C 420 PASS - - - - - Del - D 20514220 20514227 4 8 379.223 - - 1 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 7 0 9 3 27 26 27 26 9 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721001612 13 28657007 C CT 268 PASS FLT3 CCDS31953.1 r.? - - Ins intronic I 28657007 28657017 1 12 306.385 - - 9 1 1 FLT3|CCDS31953.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FLT3|CCDS31953.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 21 11 24 0 0 ./. 5 1 6 10 22 28 22 31 6 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721002537 13 31040184 CG C 420 PASS HMGB1 CCDS9335.1 r.? - - Del intronic D 31040184 31040189 1 20 373.805 - - 4 1 1 HMGB1|CCDS9335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HMGB1|CCDS9335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 3 5 5 11 17 11 17 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721009152 13 51180226 AG A 480 PASS - - - - - Del - D 51180226 51180233 1 21 433.398 - - 6 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 2 9 2 25 15 25 15 9 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721011407 13 58956068 AT A 300 PASS - - - - - Del - D 58956068 58956078 1 12 270.874 - - 9 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 3 2 4 4 14 8 14 8 4 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721014247 13 66102589 CT C 720 PASS - - - - - Del - D 66102589 66102592 1 33 650.097 - - 2 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 10 2 11 2 30 23 30 23 11 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721019699 13 82530352 CCCTGAGAAACTCAAATA C 261 PASS - - - - - Del - D 82530352 82530372 17 24 487.573 - - 1 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 7 2 7 24 36 24 36 2 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721020482 13 84991633 AAAGGGTGTGACC A 290 PASS - - - - - Del - D 84991633 84991648 12 35 541.145 - - 1 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 6 4 6 5 27 34 27 34 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721023897 13 94576742 GA G 420 PASS GPC6 CCDS9469.1 r.? - - Del intronic D 94576742 94576750 1 18 379.223 - - 7 1 1 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC6|CCDS9469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 5 2 6 29 24 29 24 2 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721024092 13 95168201 CAGAGAGAACATATGCAGAAA C 377 PASS - - - - - Del - D 95168201 95168224 20 56 700.659 - - 1 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 7 6 7 6 41 25 41 25 7 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721024939 13 97200557 CTCAGAGACA C 377 PASS HS6ST3 CCDS9481.1 r.? - - Del intronic D 97200557 97200569 9 56 704.272 - - 1 1 1 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 7 6 10 6 31 23 31 23 10 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721026980 13 102414819 CCTT C 298 PASS FGF14 CCDS9500.1 r.? - - Del intronic D 102414819 102414825 3 15 325.048 - - 1 1 1 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 2 4 3 4 29 23 29 23 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721027981 13 105233483 TATCTGGAACTTTCCTTTTTTGAAATCCAACTTTGCCTTGACCACTGAAGCTGGGTTTAGCTCTCCCTCCCTCATAATTTCCACGGTGCTTATCTGTTTGCATTTAACACTTGCATGGAGACTTTAGGATTCCAACCCTCATGCATATCTGACCTCCCAGACTTGAGTTTAATATTTGAAGATACTTAATCCAGTTTGTTAACTACTTTCACTAGCATCACCTCCAGGCTCTAGACTCTCTGACAATCTGTTCATTTGTTTTTTTGTCTTCCTATTCTGGAGTGAAATTTTCATAAACATAACGAGGTATTGGTTATAGTTGCTGCTAG T 696 PASS - - - - - Del - D 105233483 105233816 328 165 1294.78 - - 1 1 1 - - ./. 0 0 0 0 14 23 14 23 0 0 ./. 10 14 0 0 20 11 30 25 10 14 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721028279 13 106096497 CTTAAATA C 609 PASS - - - - - Del - D 106096497 106096507 7 130 1137.67 - - 1 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 9 12 12 16 26 30 26 30 12 16 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721029730 13 109925188 TCAGTCA T 261 PASS - - - - - Del - D 109925188 109925195 6 28 486.971 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 6 3 7 3 35 31 35 31 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721029970 13 110691917 C CT 254 PASS - - - - - Ins - I 110691917 110691927 1 10 267.863 - - 9 1 1 - - ./. 0 0 0 0 23 18 24 18 0 0 ./. 1 4 1 4 34 33 34 33 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721030876 13 113945771 TCA T 294 PASS - - - - - Del - D 113945771 113945776 2 12 270.874 - - 2 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 3 2 3 3 18 26 18 26 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721034653 14 27569972 CTT C 600 PASS - - - - - Del - D 27569972 27569982 2 32 541.984 - - 9 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 7 3 9 3 25 21 25 21 9 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721034793 14 27990553 ATCTTGTGGGATTTC A 435 PASS - - - - - Del - D 27990553 27990570 14 60 812.976 - - 1 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 11 4 12 5 35 30 35 30 12 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721035015 14 28514082 ATCAGGGTTTACTTTT A 261 PASS - - - - - Del - D 28514082 28514100 15 28 487.785 - - 1 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 6 3 6 3 38 31 38 31 6 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721035425 14 29889070 G GA 300 PASS - - - - - Ins - I 29889070 29889080 1 10 267.982 - - 9 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 1 4 2 4 41 45 41 46 2 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721035906 14 31383413 CTA C 900 PASS STRN3 CCDS41938.1 r.? - - Del intronic D 31383413 31383419 2 66 811.771 - - 2 1 1 STRN3|CCDS41938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STRN3|CCDS41938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 10 5 12 8 33 33 33 33 12 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721036983 14 33813917 AT A 1740 PASS NPAS3 CCDS9645.1 r.? - - Del intronic D 33813917 33813921 1 210 1571.75 - - 3 1 1 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 20 9 23 14 54 48 54 48 23 14 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721039450 14 39680619 A AT 300 PASS - - - - - Ins - I 39680619 39680629 1 10 267.982 - - 9 1 1 - - ./. 0 0 0 0 10 22 10 22 0 0 ./. 1 4 2 5 35 47 35 48 2 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721040480 14 42197072 TA T 300 PASS LRFN5 CCDS9678.1 r.? - - Del intronic D 42197072 42197074 1 12 270.992 - - 1 1 1 LRFN5|CCDS9678.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LRFN5|CCDS9678.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 3 11 3 0 0 ./. 3 2 5 2 39 19 39 19 5 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721041584 14 45545873 AAAATGTT A 290 PASS FAM179B CCDS9681.1 r.? - - Del downstream D 45545873 45545886 7 27 541.984 - - 1 1 1 FAM179B|CCDS9681.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FAM179B|CCDS9681.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 8 2 9 33 52 33 52 2 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721042236 14 47374570 A AT 300 PASS MDGA2 CCDS41948.1 r.? - - Ins intronic I 47374570 47374580 1 12 267.982 - - 9 1 1 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 2 3 2 3 47 36 48 36 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721046908 14 58750694 CA C 1620 PASS - - - - - Del - D 58750694 58750700 1 180 1462.75 - - 5 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 19 8 22 12 55 31 55 31 22 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721047341 14 59805426 C CT 300 PASS DAAM1 CCDS9737.1 r.? - - Ins intronic I 59805426 59805436 1 12 263.165 - - 9 1 1 DAAM1|CCDS9737.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DAAM1|CCDS9737.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 3 2 3 2 45 35 46 35 3 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721047513 14 60416003 G GT 261 PASS - - - - - Ins - I 60416003 60416006 1 10 482.367 - - 2 1 1 - - ./. 0 0 0 0 23 20 23 20 0 0 ./. 9 0 10 0 59 36 59 36 10 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721052230 14 74207014 CATCAGCACAAGTGT C 261 PASS C14orf43 CCDS9819.1 r.? - - Del intronic D 74207014 74207030 14 30 487.183 - - 1 1 1 C14orf43|CCDS9819.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C14orf43|CCDS9819.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 5 4 5 5 15 17 15 17 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721055734 14 86717844 AT A 540 PASS - - - - - Del - D 86717844 86717848 1 30 487.183 - - 3 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 4 7 4 15 13 15 13 7 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721060154 14 102415610 GGCCTCCAAAAAAAACAACTTCC G 261 PASS - - - - - Del - D 102415610 102415639 22 28 487.785 - - 1 1 1 - - ./. 0 0 0 0 19 26 19 26 0 0 ./. 3 6 3 6 24 41 24 41 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721062444 15 20109538 CT C 264 PASS - - - - - Del - D 20109538 20109545 1 11 542.174 - - 6 1 1 - - ./. 0 0 0 0 31 96 31 96 0 0 ./. 0 10 2 14 83 230 83 230 2 14 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721064320 15 24203087 TAC T 660 PASS - - - - - Del - D 24203087 24203091 2 40 593.984 - - 1 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 7 4 8 5 31 36 31 36 8 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721065213 15 26782107 A AT 480 PASS - - - - - Ins - I 26782107 26782109 1 24 427.117 - - 1 1 1 - - ./. 0 0 0 0 15 15 15 16 0 0 ./. 3 5 3 6 27 37 27 37 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721065710 15 28075423 GA G 960 PASS OCA2 CCDS10020.1 r.? - - Del intronic D 28075423 28075425 1 45 866.275 - - 1 1 1 OCA2|CCDS10020.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OCA2|CCDS10020.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 14 4 17 17 34 17 34 4 17 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721068145 15 35051542 AAATT A 478 PASS GJD2 CCDS10040.1 r.? - - Del upstream D 35051542 35051549 4 24 487.957 - - 1 1 1 GJD2|CCDS10040.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AC087457.1|ENST00000503496|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 7 2 8 3 40 28 40 28 8 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721072054 15 45832488 A AT 540 PASS C15orf21 ENST00000409454 r.? - - Ins intronic I 45832488 45832498 1 18 478.324 - - 9 1 1 C15orf21|ENST00000409454|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C15orf21|ENST00000409454|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 8 1 9 3 32 16 33 16 9 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721072678 15 47455255 AGTGTTTTT A 348 PASS - - - - - Del - D 47455255 47455266 8 49 650.007 - - 1 1 1 - - ./. 0 0 0 0 15 26 15 26 0 0 ./. 6 6 8 8 42 32 42 32 8 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721073388 15 49917564 TCTA T 658 PASS DTWD1 CCDS10132.1 r.434_436delCUA c.201_203delCTA p.Y68delY Del inframe D 49917564 49917570 3 48 650.609 - - 1 1 1 DTWD1|CCDS10132.1|r.434_436delCUA|c.201_203delCTA|p.Y68delY|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 DTWD1|CCDS10132.1|r.434_436delCUA|c.201_203delCTA|p.Y68delY|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 10 16 10 16 0 0 ./. 7 5 7 6 21 38 21 38 7 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721074928 15 53791692 GGTTTT G 267 PASS - - - - - Del - D 53791692 53791701 5 15 324.1 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 2 5 4 37 28 37 28 5 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721075355 15 54955029 TTATTG T 387 PASS - - - - - Del - D 54955029 54955038 5 24 433.74 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 3 5 5 37 27 37 27 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721077537 15 60558643 T TA 360 PASS - - - - - Ins - I 60558643 60558653 1 16 320.488 - - 9 1 1 - - ./. 0 0 0 0 23 9 23 9 0 0 ./. 3 3 3 3 31 39 33 39 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721080518 15 67780289 AG A 360 PASS IQCH CCDS32273.1 r.? - - Del intronic D 67780289 67780292 1 12 320.488 - - 2 1 1 IQCH|CCDS32273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IQCH|CCDS32273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 5 1 6 2 36 39 36 39 6 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721082404 15 73222467 A AT 840 PASS - - - - - Ins - I 73222467 73222472 1 64 750.013 - - 4 1 1 - - ./. 0 0 0 0 30 15 30 15 0 0 ./. 7 7 7 9 41 34 41 34 7 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721082887 15 74998611 TG T 297 PASS - - - - - Del - D 74998611 74998613 1 12 266.873 - - 1 1 1 - - ./. 0 0 0 0 30 14 30 14 0 0 ./. 3 2 5 3 39 30 39 30 5 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721086773 15 87983641 AT A 360 PASS - - - - - Del - D 87983641 87983649 1 15 325.305 - - 7 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 2 6 3 28 12 28 12 6 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721087073 15 89275897 ATTCCACCATGAGTTAAATGCTCTTACAT A 261 PASS - - - - - Del - D 89275897 89275928 28 28 487.957 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 3 4 3 40 23 42 23 6 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721089296 15 95088621 ACTGTTTGCTTATTGG A 580 PASS - - - - - Del - D 95088621 95088641 15 121 1082.54 - - 1 1 1 - - ./. 0 0 0 0 25 16 25 16 0 0 ./. 10 10 11 10 24 33 25 33 12 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721090326 15 98156144 G GA 540 PASS - - - - - Ins - I 98156144 98156154 1 24 477.12 - - 9 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 7 4 7 31 38 31 38 4 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721092037 16 209405 T TG 269 PASS HBZ CCDS10397.1 r.? - - Ins downstream I 209405 209412 1 12 267.076 - - 6 1 1 HBZ|CCDS10397.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 HBZ|CCDS10397.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 19 10 19 10 0 0 ./. 3 2 3 3 36 36 37 38 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721092578 16 1411644 C CA 300 PASS UNKL CCDS10437.2 r.? - - Ins downstream I 1411644 1411654 1 10 266.474 - - 9 1 1 UNKL|CCDS10437.2|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 GNPTG|CCDS10436.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 1 4 1 4 34 46 34 46 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721093665 16 3759248 AG A 300 PASS TRAP1 CCDS10508.1 r.? - - Del intronic D 3759248 3759250 1 6 265.27 - - 1 1 - TRAP1|CCDS10508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAP1|CCDS10508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 5 0 9 0 55 24 55 24 9 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721094171 16 4610546 CA C 329 PASS ENSG00000205832 ENST00000444310 r.? - - Del intronic D 4610546 4610555 1 16 322.418 - - 8 1 1 ENSG00000205832|ENST00000444310|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000205832|ENST00000444310|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 3 3 4 50 49 50 49 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721101331 16 19020474 CTT C 420 PASS TMC7 CCDS10573.1 r.? - - Del intronic D 19020474 19020478 2 18 378.362 - - 3 1 1 TMC7|CCDS10573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMC7|CCDS10573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 2 7 3 52 43 52 43 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721103764 16 24665113 AG A 300 PASS - - - - - Del - D 24665113 24665115 1 6 263.464 - - 1 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 0 8 0 51 29 51 29 8 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721106765 16 31799631 CT C 1320 PASS - - - - - Del - D 31799631 31799635 1 108 1191.03 - - 3 1 1 - - ./. 0 0 0 0 10 21 10 21 0 0 ./. 5 17 9 22 34 49 34 49 9 22 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721109582 16 34660941 TGATA T 267 PASS - - - - - Del - D 34660941 34660949 4 16 324.826 - - 1 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 3 3 5 3 29 35 29 35 5 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721110557 16 46836598 G GT 300 PASS C16orf87 CCDS10724.1 r.838_839insa c.? p.? Ins 3'UTR variant I 46836598 46836608 1 12 267.076 - - 9 1 1 C16orf87|CCDS10724.1|r.838_839insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 C16orf87|CCDS10724.1|r.838_839insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 3 2 3 29 34 30 34 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721114948 16 61143279 CA C 718 PASS - - - - - Del - D 61143279 61143285 1 54 702.586 - - 5 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 8 5 16 9 34 19 34 19 16 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721115356 16 62819291 TTTA T 389 PASS - - - - - Del - D 62819291 62819300 3 20 378.964 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 4 4 5 18 19 18 19 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721127114 17 8555467 GCGCGATCTCA G 435 PASS - - - - - Del - D 8555467 8555478 10 72 811.633 - - 1 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 8 7 8 8 28 16 28 16 8 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721128927 17 12915290 TG T 420 PASS ELAC2 CCDS11164.1 r.? - - Del intronic D 12915290 12915292 1 20 374.828 - - 1 1 1 ELAC2|CCDS11164.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELAC2|CCDS11164.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 3 4 3 23 21 23 21 4 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721130734 17 17292126 TC T 420 PASS - - - - - Del - D 17292126 17292130 1 18 379.043 - - 3 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 5 2 8 2 28 22 28 22 8 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721133697 17 25819970 CT C 300 PASS KSR1 ENST00000319524 r.? - - Del intronic D 25819970 25819976 1 12 270.143 - - 5 1 1 KSR1|ENST00000319524|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KSR1|ENST00000319524|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 2 3 2 5 28 26 28 26 2 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721134852 17 29163150 A AT 300 PASS ATAD5 CCDS11260.1 r.? - - Ins intronic I 29163150 29163160 1 10 262.316 - - 9 1 1 ATAD5|CCDS11260.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATAD5|CCDS11260.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 25 11 25 0 0 ./. 1 4 1 2 25 49 25 50 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721136471 17 33811081 TC T 1260 PASS SLFN12L CCDS45649.1 r.? - - Del intronic D 33811081 33811083 1 132 1135.32 - - 1 1 1 SLFN12L|CCDS45649.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLFN12L|CCDS45649.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 11 10 11 10 33 30 33 30 11 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721139688 17 41708013 TTGAGCC TCCAA 536 PASS - - - - - Complex - DI 41708014 41708019 6 42 0 - - 0 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 6 5 0 0 32 18 32 18 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721142144 17 47026711 TA T 360 PASS SNF8 ENST00000502492 r.? - - Del upstream D 47026711 47026713 1 7 318.271 - - 1 1 1 SNF8|ENST00000502492|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SNF8|ENST00000502492|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 0 11 0 31 39 31 39 11 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721143615 17 50317087 TC T 300 PASS - - - - - Del - D 50317087 50317090 1 12 270.745 - - 2 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 3 4 5 35 41 35 41 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721148704 17 61730883 ATTCCTGATGTTTCT A 261 PASS MAP3K3 CCDS32701.1 r.? - - Del intronic D 61730883 61730900 14 30 486.739 - - 1 1 1 MAP3K3|CCDS32701.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP3K3|CCDS32701.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 4 5 4 56 43 56 43 5 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721149717 17 64063722 GCTAAT G 505 PASS CCDC46 CCDS32710.1 r.? - - Del intronic D 64063722 64063730 5 42 595.639 - - 1 1 1 CCDC46|CCDS32710.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC46|CCDS32710.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 5 6 5 7 31 39 31 39 5 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721150451 17 65506806 CG C 1380 PASS PITPNC1 ENST00000423236 r.? - - Del intronic D 65506806 65506811 1 156 1240.01 - - 4 1 1 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 11 12 17 15 53 49 53 49 17 15 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721150618 17 65783533 T TTTTA 869 PASS - - - - - Ins - I 65783533 65783557 4 72 774.907 - - 5 1 - - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 8 7 12 7 48 40 49 41 12 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721151719 17 68041385 TAACA T 629 PASS - - - - - Del - D 68041385 68041394 4 36 595.639 - - 2 1 1 - - ./. 0 0 0 0 28 19 28 19 0 0 ./. 8 3 8 4 52 45 52 45 8 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721154181 17 73394513 A AT 300 PASS GRB2 CCDS11721.1 r.? - - Ins intronic I 73394513 73394523 1 12 265.326 - - 9 1 1 GRB2|CCDS11721.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GRB2|CCDS11721.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 2 3 36 31 36 31 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721155696 17 76324664 CA C 540 PASS - - - - - Del - D 76324664 76324674 1 24 487.341 - - 9 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 7 2 11 4 42 30 42 30 11 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721155927 17 76837037 CCGCCGCTTCCGTGT C 493 PASS USP36 CCDS32755.1 r.? - - Del upstream D 76837037 76837056 14 88 911.502 - - 1 1 1 USP36|CCDS32755.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 USP36|CCDS32755.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 17 21 17 21 0 0 ./. 10 7 13 7 34 34 34 34 13 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721156166 17 77636790 TC T 420 PASS - - - - - Del - D 77636790 77636794 1 20 376.033 - - 3 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 3 4 6 5 24 13 24 13 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721158914 18 2721538 AC A 420 PASS ENSG00000101596 CCDS45822.1 r.? - - Del intronic D 2721538 2721541 1 20 377.58 - - 2 1 1 ENSG00000101596|CCDS45822.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000101596|CCDS45822.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 14 23 14 0 0 ./. 3 4 4 5 24 26 24 26 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721166211 18 24435182 CT C 900 PASS AQP4 CCDS11889.1 r.2060delA c.? p.? Del 3'UTR variant D 24435182 24435184 1 66 812.368 - - 1 1 1 AQP4|CCDS11889.1|r.2060delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 AQP4|CCDS11889.1|r.2060delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 20 22 20 22 0 0 ./. 5 10 7 15 36 40 36 40 7 15 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721166739 18 26145963 GGTTAGTAGATATTATT G 348 PASS - - - - - Del - D 26145963 26145981 16 48 650.376 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 7 5 7 5 38 25 38 25 7 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721167433 18 28195165 A AT 360 PASS - - - - - Ins - I 28195165 28195174 1 7 320.973 - - 8 1 1 - - ./. 0 0 0 0 12 24 12 24 0 0 ./. 6 0 6 0 38 28 38 28 6 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721173822 18 48479911 ATTACACCAAAAAGTCTCAGTAGCCAATTCACTAACATCTTTTGATTTGGTAATC A 377 PASS - - - - - Del - D 48479911 48479968 54 56 704.574 - - 1 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 6 7 0 1 31 28 37 34 6 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721174878 18 51230585 CT C 420 PASS - - - - - Del - D 51230585 51230592 1 20 376.376 - - 6 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 4 6 6 38 24 38 24 6 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721178404 18 60980321 ACTTATAGTTATTTGCTTTTTTCCTCTAAGT A 261 PASS BCL2 CCDS11981.1 r.? - - Del intronic D 60980321 60980354 30 28 487.782 - - 1 1 1 BCL2|CCDS11981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCL2|CCDS11981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 6 3 4 3 33 33 35 33 6 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721178484 18 61174314 C CTA 420 PASS SERPINB5 CCDS32839.1 r.? - - Ins downstream I 61174314 61174316 2 18 370.957 - - 0 1 1 SERPINB5|CCDS32839.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SERPINB5|CCDS32839.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 5 3 5 26 21 26 21 3 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721180804 18 67056716 ACT A 300 PASS - - - - - Del - D 67056716 67056721 2 12 265.571 - - 2 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 2 4 2 38 22 38 22 4 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721183493 18 74450217 CTCTGACGGTTCTTCCAAT C 261 PASS - - - - - Del - D 74450217 74450237 18 30 487.782 - - 1 1 1 - - ./. 0 0 0 0 10 22 10 22 0 0 ./. 5 4 5 4 30 32 30 32 5 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721184285 18 76604890 ATC A 420 PASS - - - - - Del - D 76604890 76604908 2 18 379.386 - - 8 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 5 2 5 2 38 40 38 40 5 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721188971 19 8258164 T TC 269 PASS - - - - - Ins - I 8258164 8258165 1 12 268.021 - - 0 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 2 3 2 5 29 38 31 38 2 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721190635 19 11114943 TG T 300 PASS SMARCA4 CCDS45971.1 r.? - - Del intronic D 11114943 11114945 1 6 260.796 - - 1 1 1 SMARCA4|CCDS45971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMARCA4|CCDS45971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 9 21 9 0 0 ./. 5 0 7 0 44 27 44 27 7 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721190991 19 11780375 G GT 269 PASS - - - - - Ins - I 11780375 11780385 1 12 265.612 - - 9 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 2 3 3 3 33 63 33 63 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721191857 19 13559695 CAAAAGTCAGGTTAGAGAA C 377 PASS CACNA1A CCDS45998.1 r.? - - Del intronic D 13559695 13559715 18 44 704.681 - - 1 1 1 CACNA1A|CCDS45998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1A|CCDS45998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 17 5 17 0 0 ./. 3 10 3 10 29 48 29 48 3 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721192781 19 15140678 GAGATTGCACCACTGCACTCGAGCCTGGGCGAC G 302 PASS - - - - - Del - D 15140678 15140714 32 30 596.268 - - 1 1 1 - - ./. 0 0 0 0 4 26 4 26 0 0 ./. 2 9 1 8 9 33 10 34 2 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721198401 19 28552877 TACCA T 478 PASS - - - - - Del - D 28552877 28552884 4 30 487.254 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 5 5 5 25 25 25 25 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721199669 19 31850127 GGT G 420 PASS ENSG00000232700 ENST00000441786 r.? - - Del intronic D 31850127 31850131 2 18 378.841 - - 1 1 1 ENSG00000232700|ENST00000441786|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000232700|ENST00000441786|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 2 5 5 5 27 30 27 30 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721200259 19 33310395 TA T 300 PASS TDRD12 ENST00000444215 r.? - - Del intronic D 33310395 33310399 1 12 271.031 - - 3 1 1 TDRD12|ENST00000444215|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TDRD12|ENST00000444215|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 23 14 23 0 0 ./. 3 2 4 2 16 28 16 28 4 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721200310 19 33405632 G GA 300 PASS CCDC123 CCDS32987.1 r.? - - Ins intronic I 33405632 33405642 1 6 268.021 - - 9 1 1 CCDC123|CCDS32987.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC123|CCDS32987.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 5 0 5 0 33 21 33 21 5 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721202003 19 37041551 CTGACATCTATGGAACGCAAATACATTTGTCTCATAAAAAGTAAAAACTTAAATGCTTTTTTTTAAAAAAGTAAAAATAACCAATGTATAAAGAACAG C 278 PASS ZNF529 ENST00000334116 r.? - - Del intronic D 37041551 37041653 97 32 542.062 - - 1 1 1 ZNF529|ENST00000334116|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF529|ENST00000334116|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 23 17 23 0 0 ./. 7 3 0 0 19 30 26 33 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721202005 19 37049395 G GA 540 PASS ZNF529 ENST00000334116 r.? - - Ins intronic I 37049395 37049403 1 28 482.437 - - 7 1 1 ZNF529|ENST00000334116|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF529|ENST00000334116|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 6 4 7 31 26 32 26 4 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721204485 19 43438697 ATCTGTGAATAAATGTTAAATTATTCACAGTCACCTGACCTAATGCGTAGCACTGTGGAAATGTTCACCAAACAGCATTTATTATTAATTTGCTTCCATGAGAAAGCACCTTTACGTCAGATCCCTGTGGACAAGCTGCTACCTGGTACATCTTCTCTCTTCTGTTTCTGCTTCTGGGGATATTAGACTTTCTATGGAGTGTCCTAGGCCTCCTAAGGCAGTTGGCTGATGGCCTACAAAGCTTGTCTTTCTGTCCTCTCCACTCTGAGTGTCAGGTGAAGAAAGC A 261 PASS PSG1 ENST00000449000 r.? - - Del intronic D 43438697 43438988 285 30 487.856 - - 1 1 1 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 27 17 27 0 0 ./. 4 5 0 0 14 25 18 30 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721206036 19 46765406 T TA 360 PASS - - - - - Ins - I 46765406 46765407 1 12 321.625 - - 0 1 1 - - ./. 0 0 0 0 3 14 3 14 0 0 ./. 1 5 1 5 4 26 4 26 1 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721209068 19 52865154 GT G 749 PASS ZNF610 CCDS12851.1 r.? - - Del intronic D 52865154 52865157 1 54 704.681 - - 2 1 1 ZNF610|CCDS12851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF610|CCDS12851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 11 21 11 0 0 ./. 8 5 12 8 40 29 40 29 12 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721210528 19 55194794 GC G 627 PASS - - - - - Del - D 55194794 55194798 1 48 649.27 - - 3 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 7 5 11 6 54 46 54 46 11 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721211014 19 55985538 TG T 300 PASS ZNF628 CCDS33116.2 r.? - - Del upstream D 55985538 55985548 1 12 265.01 - - 9 1 1 ZNF628|CCDS33116.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZNF628|CCDS33116.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 17 10 17 0 0 ./. 2 3 2 3 43 37 43 37 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721211714 19 57378968 TTGCAGATCTC T 290 PASS - - - - - Del - D 57378968 57378981 10 32 542.062 - - 1 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 7 3 8 3 57 37 57 37 8 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721212595 19 59068569 AAG A 300 PASS MZF1 CCDS12988.1 r.? - - Del downstream D 59068569 59068584 2 12 262 - - 7 1 1 MZF1|CCDS12988.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 UBE2MP1|CCDS12987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 2 3 21 28 21 28 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721215662 2 8213213 G GA 300 PASS - - - - - Ins - I 8213213 8213223 1 10 265.81 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 4 1 1 39 37 39 37 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721217020 2 11351857 TTATCTGCTAGTCGTGCC T 667 PASS ROCK2 CCDS42654.1 r.2585_2601del17 c.2136_2152del17 p.A713fs*2 Del frameshift D 11351857 11351876 17 150 1232.36 - - 1 1 1 ROCK2|CCDS42654.1|r.2585_2601del17|c.2136_2152del17|p.A713fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ROCK2|CCDS42654.1|r.2585_2601del17|c.2136_2152del17|p.A713fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 8 10 8 10 0 0 ./. 9 14 9 14 29 35 29 35 9 14 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721217794 2 13375519 TC T 480 PASS - - - - - Del - D 13375519 13375521 1 24 429.51 - - 1 1 1 - - ./. 0 0 0 0 25 15 25 15 0 0 ./. 5 3 7 3 37 36 37 36 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721217828 2 13542834 AG A 480 PASS - - - - - Del - D 13542834 13542837 1 24 430.112 - - 2 1 1 - - ./. 0 0 0 0 22 5 22 5 0 0 ./. 5 3 7 3 32 30 32 30 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721218082 2 14260870 ATATT A 420 PASS - - - - - Del - D 14260870 14260882 4 20 376.348 - - 2 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 3 5 3 35 27 35 27 5 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721218343 2 15007088 AATAATAATATATGCCTGACTTTTTTAGTCACAGAAAACCC A 261 PASS - - - - - Del - D 15007088 15007132 40 30 483.876 - - 1 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 4 5 2 2 31 25 33 28 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721218747 2 16041453 TTC T 300 PASS - - - - - Del - D 16041453 16041470 2 12 268.82 - - 8 1 1 - - ./. 0 0 0 0 23 18 23 18 0 0 ./. 2 3 2 3 46 34 46 34 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721219728 2 19098159 AG A 660 PASS - - - - - Del - D 19098159 19098161 1 36 591.404 - - 1 1 1 - - ./. 0 0 0 0 20 7 20 7 0 0 ./. 8 3 10 3 47 28 47 28 10 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721226219 2 36585002 TGTTTA T 414 PASS CRIM1 CCDS1783.1 r.? - - Del intronic D 36585002 36585010 5 36 536.436 - - 1 1 1 CRIM1|CCDS1783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRIM1|CCDS1783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 5 5 6 5 34 31 34 31 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721227132 2 38918881 T TA 300 PASS GALM CCDS1797.1 r.? - - Ins intronic I 38918881 38918888 1 10 264.004 - - 6 1 1 GALM|CCDS1797.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GALM|CCDS1797.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 1 4 1 4 28 27 28 27 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721229536 2 45620871 TA T 600 PASS SRBD1 CCDS1823.1 r.? - - Del intronic D 45620871 45620877 1 27 537.038 - - 5 1 1 SRBD1|CCDS1823.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRBD1|CCDS1823.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 22 22 22 0 0 ./. 8 2 9 3 47 23 47 23 9 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721231292 2 50758803 C CT 420 PASS NRXN1 CCDS46282.1 r.? - - Ins intronic I 50758803 50758813 1 18 370.93 - - 9 1 1 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 22 27 22 0 0 ./. 2 5 4 6 37 36 38 37 4 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721231424 2 51211832 CTGTA C 507 PASS NRXN1 CCDS46282.1 r.? - - Del intronic D 51211832 51211838 4 20 537.64 - - 1 1 1 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 9 1 10 6 46 30 46 30 10 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721231735 2 52240007 G GT 360 PASS - - - - - Ins - I 52240007 52240017 1 16 318.37 - - 9 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 3 6 4 42 34 42 34 6 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721231988 2 53065546 AAAGTCAA ATG 464 PASS - - - - - Complex - DI 53065547 53065553 7 77 0 - - 0 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 10 6 0 0 36 40 36 40 10 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721233986 2 59171267 ACT A 420 PASS - - - - - Del - D 59171267 59171272 2 20 366.113 - - 2 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 4 3 7 4 31 31 31 31 7 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721236380 2 66035630 AGAAAT A 776 PASS - - - - - Del - D 66035630 66035637 5 42 806.461 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 13 2 16 3 44 24 44 24 16 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721239199 2 73616102 TG T 600 PASS ALMS1 CCDS42697.1 r.? - - Del intronic D 73616102 73616106 1 35 537.64 - - 3 1 1 ALMS1|CCDS42697.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALMS1|CCDS42697.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 4 6 6 36 34 36 34 6 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721239320 2 73939085 CA C 569 PASS AC092653.2 ENST00000502958 r.? - - Del downstream D 73939085 73939087 1 35 537.038 - - 1 1 1 AC092653.2|ENST00000502958|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 AC092653.2|ENST00000502958|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 18 17 18 17 0 0 ./. 6 4 7 4 31 22 31 22 7 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721240545 2 77592656 CGTAT C 329 PASS LRRTM4 CCDS46346.1 r.? - - Del intronic D 77592656 77592664 4 12 310.543 - - 1 1 1 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 22 3 22 0 0 ./. 1 5 2 7 22 41 22 41 2 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721240907 2 78645334 AGTCAC A 319 PASS - - - - - Del - D 78645334 78645342 5 30 591.404 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 9 3 10 37 31 37 31 3 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721241191 2 79433386 AG A 480 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 79433386 79433388 1 25 427.704 - - 1 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 4 4 7 8 39 30 39 30 7 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721242018 2 82136177 AG A 720 PASS - - - - - Del - D 82136177 82136179 1 48 644.566 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 7 5 9 6 31 30 31 30 9 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721242528 2 83974501 GAAGAAGTTAGTCATCTACAAACCAAGGAGA G 261 PASS - - - - - Del - D 83974501 83974535 30 28 483.274 - - 1 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 6 3 3 2 29 34 32 35 6 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721244801 2 91704476 A AT 420 PASS - - - - - Ins - I 91704476 91704483 1 18 367.919 - - 6 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 2 5 7 7 29 34 30 34 7 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721248623 2 103636803 TA T 540 PASS - - - - - Del - D 103636803 103636806 1 24 483.274 - - 2 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 7 2 7 2 39 22 39 22 7 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721254347 2 122634030 TTGTGAACTTTTAC T 348 PASS - - - - - Del - D 122634030 122634048 13 49 645.168 - - 1 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 6 6 7 7 42 34 42 34 7 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721254660 2 123778058 A AT 360 PASS - - - - - Ins - I 123778058 123778059 1 12 315.359 - - 0 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 1 5 1 5 25 29 26 29 1 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721255273 2 125623345 AC A 420 PASS CNTNAP5 CCDS46401.1 r.? - - Del intronic D 125623345 125623350 1 20 375.746 - - 4 1 1 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 4 4 4 21 28 21 28 4 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721261243 2 141868516 ACATATCAAAACAAAATAGCCACCTGGGGAAAATAGCCTCTTC A 406 PASS LRP1B CCDS2182.1 r.? - - Del intronic D 141868516 141868562 42 63 752.094 - - 1 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 8 6 2 2 30 25 36 29 8 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721265095 2 154068679 G GT 300 PASS - - - - - Ins - I 154068679 154068689 1 12 265.81 - - 9 1 1 - - ./. 0 0 0 0 18 23 18 23 0 0 ./. 2 3 2 3 28 35 28 36 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721266176 2 158034425 A AT 300 PASS - - - - - Ins - I 158034425 158034435 1 12 260.993 - - 9 1 1 - - ./. 0 0 0 0 23 18 25 18 0 0 ./. 2 3 2 3 26 35 26 36 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721274706 2 184839844 CT C 360 PASS - - - - - Del - D 184839844 184839853 1 15 322.584 - - 8 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 4 2 5 3 36 20 36 20 5 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721275010 2 185717346 G GT 389 PASS ZNF804A CCDS2291.1 r.? - - Ins intronic I 185717346 185717352 1 20 372.134 - - 5 1 1 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 3 4 3 5 27 31 27 32 3 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721277365 2 192967097 CA C 360 PASS TMEFF2 CCDS2314.1 r.? - - Del intronic D 192967097 192967101 1 16 321.38 - - 3 1 1 TMEFF2|CCDS2314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEFF2|CCDS2314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 3 4 8 18 24 18 24 4 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721278005 2 195128906 TTTGGTAACTGAATA T 423 PASS - - - - - Del - D 195128906 195128925 14 72 806.461 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 7 8 10 11 25 35 25 35 10 11 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721279131 2 198329133 GGTGCAGCTCTCAGAT G 290 PASS COQ10B CCDS2319.1 r.? - - Del intronic D 198329133 198329153 15 36 537.64 - - 1 1 1 COQ10B|CCDS2319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COQ10B|CCDS2319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 4 19 4 0 0 ./. 5 5 6 5 31 15 31 15 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721280266 2 201920928 T TAAATAAATA 290 PASS FAM126B CCDS2335.1 r.? - - Ins intronic I 201920928 201920936 9 35 482.853 - - 0 1 - FAM126B|CCDS2335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FAM126B|CCDS2335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 3 12 3 0 0 ./. 6 4 4 4 24 18 25 18 6 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721283287 2 210707423 TTCTA T 298 PASS UNC80 CCDS46504.1 r.? - - Del intronic D 210707423 210707430 4 15 318.972 - - 1 1 1 UNC80|CCDS46504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC80|CCDS46504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 2 5 2 31 32 31 32 5 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721290467 2 230903211 CA C 540 PASS SLC16A14 CCDS2473.1 r.? - - Del intronic D 230903211 230903215 1 30 483.876 - - 3 1 1 SLC16A14|CCDS2473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC16A14|CCDS2473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 4 5 5 5 27 23 27 23 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721297292 20 6801889 CTGTTAAATAA C 406 PASS - - - - - Del - D 6801889 6801903 10 60 759.519 - - 1 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 9 5 9 8 44 45 44 45 9 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721297454 20 7244431 GT G 660 PASS - - - - - Del - D 7244431 7244433 1 42 595.432 - - 1 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 5 6 5 8 35 52 35 52 5 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721298865 20 11592254 GGA G 269 PASS - - - - - Del - D 11592254 11592257 2 12 261.839 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 3 2 4 35 25 35 25 2 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721300728 20 16572739 TC T 360 PASS - - - - - Del - D 16572739 16572742 1 15 325.766 - - 2 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 4 3 5 21 47 21 47 3 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721302159 20 20677992 TA T 360 PASS RALGAPA2 CCDS46584.1 r.? - - Del intronic D 20677992 20678000 1 16 325.766 - - 7 1 1 RALGAPA2|CCDS46584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RALGAPA2|CCDS46584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 23 17 23 0 0 ./. 3 3 5 5 31 30 31 30 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721304712 20 29509411 ACAC ATG 357 PASS - - - - - Complex - DI 29509412 29509414 3 16 0 - - 0 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 3 0 0 16 34 16 34 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721307791 20 35373104 TTTAAATCATGGGAGGCTTCTTAAA T 464 PASS NDRG3 CCDS13285.1 r.? - - Del intronic D 35373104 35373131 24 45 864.496 - - 1 1 1 NDRG3|CCDS13285.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NDRG3|CCDS13285.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 24 9 24 0 0 ./. 2 14 3 10 18 41 18 45 3 14 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721309433 20 41676610 CAAATGA CTCAG 985 PASS PTPRT CCDS42874.1 r.? - - Complex intronic DI 41676611 41676616 6 104 0 - - 0 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 7 12 0 0 26 43 26 43 7 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721310241 20 44204233 ACCCAGAACCTATCTTTTTG A 290 PASS WFDC8 CCDS13361.1 r.? - - Del intronic D 44204233 44204258 19 32 542.944 - - 1 1 1 WFDC8|CCDS13361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WFDC8|CCDS13361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 7 3 6 3 35 19 36 19 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721311679 20 47942184 G GATTAAATGAAGTCATGTATGGGACTTGCTTGGTTTAGCATCCAAAGCACAATGAACGGGGTTATTAGATGGATGTTGTGAGA 261 PASS ENSG00000236127 ENST00000422874 r.? - - Ins upstream I 47942184 47942259 82 18 44.3291 - - 0 1 1 ENSG00000236127|ENST00000422874|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ENSG00000236127|ENST00000422874|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 25 36 25 36 0 0 ./. 1 8 0 0 62 54 64 62 1 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721314698 20 54711753 TC T 660 PASS - - - - - Del - D 54711753 54711760 1 42 593.626 - - 6 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 6 5 10 9 28 31 28 31 10 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721315809 20 57714833 CT C 420 PASS - - - - - Del - D 57714833 57714839 1 18 380.061 - - 5 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 5 2 7 3 47 37 47 37 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721319794 21 10618773 T TGGTGTATATACACACATATGCATATA 348 PASS - - - - - Ins - I 10618773 10618774 26 14 270.728 - - 0 1 - - - ./. 0 0 0 0 16 34 16 34 0 0 ./. 1 6 0 0 61 69 62 69 1 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721325333 21 23467213 A AAAG 447 PASS - - - - - Ins - I 23467213 23467220 3 28 472.705 - - 2 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 3 6 5 6 43 39 43 39 5 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721325580 21 24067721 GCCATCTGCA G 319 PASS - - - - - Del - D 24067721 24067733 9 40 597.618 - - 1 1 1 - - ./. 0 0 0 0 18 23 18 23 0 0 ./. 7 4 7 6 29 29 29 29 7 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721327393 21 28477042 C CA 840 PASS - - - - - Ins - I 28477042 28477051 1 60 751.574 - - 8 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 5 9 7 10 41 38 41 41 7 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721327750 21 29226383 TA T 480 PASS - - - - - Del - D 29226383 29226386 1 24 434.632 - - 2 1 1 - - ./. 0 0 0 0 13 24 13 24 0 0 ./. 3 5 5 9 24 28 24 28 5 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721328822 21 31944893 G GT 360 PASS - - - - - Ins - I 31944893 31944902 1 16 322.361 - - 8 1 1 - - ./. 0 0 0 0 30 11 30 11 0 0 ./. 3 3 3 4 26 37 26 38 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721330359 21 35418348 TCTATTGGATTACC T 319 PASS - - - - - Del - D 35418348 35418364 13 42 597.618 - - 1 1 1 - - ./. 0 0 0 0 9 24 9 24 0 0 ./. 5 6 5 6 46 29 46 29 5 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721330724 21 36471635 CCT C 360 PASS - - - - - Del - D 36471635 36471650 2 12 323.565 - - 7 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 1 5 1 6 27 54 27 54 1 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721331486 21 38337489 AAACCTGAG A 319 PASS HLCS CCDS13647.1 r.? - - Del intronic D 38337489 38337499 8 36 595.21 - - 1 1 1 HLCS|CCDS13647.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HLCS|CCDS13647.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 23 13 23 0 0 ./. 3 8 3 8 24 31 24 31 3 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721332417 21 40502763 C CA 480 PASS - - - - - Ins - I 40502763 40502769 1 25 429.815 - - 5 1 1 - - ./. 0 0 0 0 21 12 21 13 0 0 ./. 4 4 7 6 36 40 36 40 7 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721341408 22 31310253 C CA 360 PASS - - - - - Ins - I 31310253 31310260 1 15 323.237 - - 6 1 1 - - ./. 0 0 0 0 10 12 11 12 0 0 ./. 4 2 6 4 20 20 20 20 6 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721343924 22 38146534 TG T 329 PASS TRIOBP CCDS43015.1 r.? - - Del intronic D 38146534 38146538 1 12 326.849 - - 3 1 1 TRIOBP|CCDS43015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIOBP|CCDS43015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 1 5 2 5 20 22 20 22 2 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721344440 22 39560233 CTT C 360 PASS - - - - - Del - D 39560233 39560243 2 16 327.451 - - 9 1 1 - - ./. 0 0 0 0 19 5 19 5 0 0 ./. 3 3 5 5 40 25 40 25 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721348029 22 49939992 TG T 389 PASS - - - - - Del - D 49939992 49939995 1 20 382.026 - - 2 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 4 3 6 18 24 18 24 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721348561 3 255416 TG T 389 PASS CHL1 CCDS2556.1 r.? - - Del intronic D 255416 255419 1 20 373.312 - - 2 1 1 CHL1|CCDS2556.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHL1|CCDS2556.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 25 18 25 0 0 ./. 3 4 5 4 32 39 32 39 5 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721351530 3 8195829 AGATAGGTTTT A 290 PASS - - - - - Del - D 8195829 8195842 10 35 537.259 - - 1 1 1 - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 6 4 8 5 21 22 21 22 8 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721354138 3 16662334 A AT 269 PASS DAZL ENST00000454457 r.? - - Ins intronic I 16662334 16662342 1 10 260.803 - - 7 1 1 DAZL|ENST00000454457|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DAZL|ENST00000454457|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 1 4 2 7 19 32 19 32 2 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721354761 3 19303006 GTTTGAAATTTTTTTTCTCAA G 261 PASS KCNH8 CCDS2632.1 r.? - - Del intronic D 19303006 19303031 20 24 484.617 - - 1 1 1 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 29 20 29 0 0 ./. 2 7 2 7 28 27 28 27 2 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721356721 3 25784260 C CAATA 420 PASS NGLY1 CCDS46778.1 r.? - - Ins intronic I 25784260 25784263 4 20 360.067 - - 0 1 1 NGLY1|CCDS46778.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NGLY1|CCDS46778.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 13 0 0 ./. 4 3 8 6 23 23 23 23 8 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721357836 3 29489133 GAGTACCCAGTA G 290 PASS RBMS3 CCDS33725.1 r.? - - Del intronic D 29489133 29489149 11 27 538.464 - - 1 1 1 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 2 8 3 8 35 39 35 39 3 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721358812 3 32614999 G GGT 360 PASS DYNC1LI1 CCDS2654.1 r.? - - Ins upstream I 32614999 32615003 2 15 315.853 - - 1 1 1 DYNC1LI1|CCDS2654.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 DYNC1LI1|CCDS2654.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 8 17 8 17 0 0 ./. 2 4 4 5 15 23 15 23 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721359385 3 34884642 TATTCA T 507 PASS - - - - - Del - D 34884642 34884648 5 36 532.443 - - 1 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 5 5 8 6 31 27 31 27 8 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721359801 3 36422277 CA C 269 PASS STAC CCDS2662.1 r.? - - Del intronic D 36422277 36422281 1 12 269.232 - - 3 1 1 STAC|CCDS2662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STAC|CCDS2662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 2 3 3 16 15 16 15 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721362670 3 47855938 AG A 300 PASS DHX30 CCDS2759.1 r.? - - Del intronic D 47855938 47855940 1 6 251.17 - - 1 1 - DHX30|CCDS2759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DHX30|CCDS2759.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 5 0 6 0 22 11 22 11 6 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721379686 3 105007308 C CA 600 PASS - - - - - Ins - I 105007308 105007315 1 35 532.443 - - 6 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 6 4 8 6 27 25 27 25 8 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721380909 3 108507703 AAG A 360 PASS - - - - - Del - D 108507703 108507723 2 15 323.078 - - 9 1 - - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 2 4 2 35 44 35 44 4 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721382754 3 112957722 AC A 480 PASS BOC CCDS2971.1 r.? - - Del intronic D 112957722 112957725 1 21 430.771 - - 2 1 1 BOC|CCDS2971.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BOC|CCDS2971.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 2 6 2 7 33 44 33 44 2 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721384664 3 118227562 CA C 509 PASS - - - - - Del - D 118227562 118227564 1 30 469.566 - - 1 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 5 5 6 41 33 41 33 5 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721384725 3 118388465 G GA 420 PASS - - - - - Ins - I 118388465 118388475 1 14 360.067 - - 9 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 1 6 1 7 45 40 45 41 1 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721385917 3 121487309 C CT 300 PASS IQCB1 CCDS33837.1 r.? - - Ins downstream I 121487309 121487310 1 10 263.211 - - 0 1 1 IQCB1|CCDS33837.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 IQCB1|CCDS33837.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 6 16 6 16 0 0 ./. 1 4 0 0 36 35 36 35 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721387006 3 124452109 ATC A 269 PASS UMPS CCDS3029.1 r.? - - Del intronic D 124452109 124452117 2 12 269.232 - - 3 1 1 UMPS|CCDS3029.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UMPS|CCDS3029.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 2 3 3 4 45 41 45 41 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721397498 3 151556261 CCAGAACCGTTTATTAATAAAATA C 319 PASS - - - - - Del - D 151556261 151556286 23 42 592.31 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 5 6 5 6 40 61 40 61 5 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721397828 3 152466612 CA C 420 PASS - - - - - Del - D 152466612 152466616 1 20 376.924 - - 3 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 4 3 5 4 47 48 47 48 5 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721398431 3 153876163 GTT G 480 PASS ENSG00000114790 CCDS46938.1 r.? - - Del intronic D 153876163 153876167 2 24 430.771 - - 3 1 1 ENSG00000114790|CCDS46938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000114790|CCDS46938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 25 18 25 0 0 ./. 5 3 8 6 52 36 52 36 8 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721398640 3 154580699 CTCCATGACTTTCAAAA C 261 PASS - - - - - Del - D 154580699 154580720 16 30 481.005 - - 1 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 5 4 5 51 38 51 38 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721402225 3 163753580 AG A 480 PASS - - - - - Del - D 163753580 163753582 1 25 430.771 - - 1 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 4 6 9 36 37 36 37 6 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721402544 3 164601285 TC T 300 PASS - - - - - Del - D 164601285 164601288 1 12 268.028 - - 2 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 3 5 3 31 48 31 48 5 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721403169 3 166529056 GAGGGAGGCA G 464 PASS - - - - - Del - D 166529056 166529068 9 77 854.317 - - 1 1 1 - - ./. 0 0 0 0 26 14 26 14 0 0 ./. 6 10 7 11 39 29 39 29 7 11 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721403307 3 166853357 G GA 300 PASS - - - - - Ins - I 166853357 166853367 1 12 266.221 - - 9 1 1 - - ./. 0 0 0 0 13 18 14 18 0 0 ./. 2 3 2 3 57 34 58 34 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721403799 3 168248472 AT A 840 PASS - - - - - Del - D 168248472 168248474 1 55 753.849 - - 1 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 4 10 5 12 38 40 38 40 5 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721405785 3 173107318 TTTG T 389 PASS - - - - - Del - D 173107318 173107334 3 20 376.924 - - 5 1 1 - - ./. 0 0 0 0 25 11 25 11 0 0 ./. 4 3 5 3 39 38 39 38 5 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721405859 3 173271890 A AT 480 PASS NLGN1 CCDS3222.1 r.? - - Ins intronic I 173271890 173271897 1 24 425.954 - - 6 1 1 NLGN1|CCDS3222.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NLGN1|CCDS3222.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 24 10 25 0 0 ./. 5 3 7 5 38 40 38 40 7 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721406642 3 174913185 GA G 540 PASS NAALADL2 CCDS46960.1 r.? - - Del intronic D 174913185 174913191 1 30 482.209 - - 5 1 1 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 4 5 5 7 34 41 34 41 5 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721406751 3 175151482 C CT 600 PASS NAALADL2 CCDS46960.1 r.? - - Ins intronic I 175151482 175151492 1 20 524.616 - - 9 1 1 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 17 0 0 ./. 9 1 9 2 58 43 58 43 9 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721407458 3 176769471 AG A 689 PASS TBL1XR1 CCDS46961.1 r.507delC c.247delC p.L83fs*1 Del frameshift D 176769471 176769475 1 49 645.554 - - 3 1 1 TBL1XR1|CCDS46961.1|r.507delC|c.247delC|p.L83fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 TBL1XR1|CCDS46961.1|r.507delC|c.247delC|p.L83fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 14 11 14 11 0 0 ./. 6 6 7 8 37 27 37 27 7 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721407857 3 177584766 GAGTA G 358 PASS - - - - - Del - D 177584766 177584771 4 18 376.924 - - 1 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 2 5 3 5 37 34 37 34 3 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721408297 3 178849196 G GT 651 PASS - - - - - Ins - I 178849196 178849206 1 45 634.115 - - 9 1 1 - - ./. 0 0 0 0 20 19 21 19 0 0 ./. 8 4 11 6 37 55 37 55 11 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721408883 3 180116338 G GTGTA 300 PASS - - - - - Ins - I 180116338 180116340 4 6 256.589 - - 0 1 - - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 0 5 0 1 32 34 32 34 0 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721409944 3 182885923 C CA 540 PASS LAMP3 ENST00000476015 r.? - - Ins upstream I 182885923 182885925 1 30 479.199 - - 1 1 1 LAMP3|ENST00000476015|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 LAMP3|ENST00000476015|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 19 17 19 17 0 0 ./. 4 5 6 5 44 31 45 31 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721414504 3 193856979 CAGTT C 1196 PASS HES1 CCDS3305.1 r.? - - Del downstream D 193856979 193856990 4 144 1184.62 - - 2 1 1 HES1|CCDS3305.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 HES1|CCDS3305.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 19 16 19 16 0 0 ./. 11 11 16 12 49 38 50 38 17 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721418858 4 7221146 AG A 600 PASS SORCS2 CCDS47008.1 r.? - - Del intronic D 7221146 7221150 1 35 535.835 - - 3 1 1 SORCS2|CCDS47008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORCS2|CCDS47008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 4 6 6 7 27 25 27 25 6 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721419414 4 9111055 TAC T 600 PASS - - - - - Del - D 9111055 9111061 2 32 536.437 - - 2 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 7 3 8 3 29 28 29 28 8 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721420850 4 13745946 G GT 480 PASS - - - - - Ins - I 13745946 13745947 1 25 425.778 - - 0 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 4 4 6 4 40 33 41 33 6 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721421761 4 16458745 T TA 300 PASS - - - - - Ins - I 16458745 16458755 1 12 263.703 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 2 6 3 35 28 36 28 6 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721423461 4 21626281 TA T 689 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 21626281 21626283 1 40 643.483 - - 1 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 9 3 9 4 44 36 44 36 9 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721423549 4 21825660 TC T 420 PASS KCNIP4 CCDS43216.1 r.? - - Del intronic D 21825660 21825662 1 18 376.77 - - 1 1 1 KCNIP4|CCDS43216.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43216.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 5 2 6 3 31 31 31 31 6 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721423663 4 22256209 G GA 360 PASS - - - - - Ins - I 22256209 22256218 1 15 318.731 - - 8 1 1 - - ./. 0 0 0 0 22 13 22 14 0 0 ./. 4 2 4 3 39 31 39 31 4 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721427058 4 32257356 AAACT A 540 PASS - - - - - Del - D 32257356 32257364 4 24 484.419 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 7 2 9 5 38 32 38 32 9 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721427713 4 34553387 GATAGTCTATAATTTTAAATATATTTTAAAAACA G 290 PASS - - - - - Del - D 34553387 34553423 33 35 538.243 - - 1 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 6 4 0 0 34 22 36 22 6 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721432282 4 46818663 A AT 840 PASS COX7B2 CCDS3472.2 r.? - - Ins intronic I 46818663 46818672 1 48 743.907 - - 8 1 1 COX7B2|CCDS3472.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 COX7B2|CCDS3472.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 11 26 11 0 0 ./. 3 11 11 15 37 37 37 38 11 15 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721434113 4 49635504 T TGAATGGAATGGAACGGAAC 297 PASS ENSG00000233000 ENST00000413383 r.? - - Ins upstream I 49635504 49635506 19 143 930.667 - - 0 1 1 ENSG00000233000|ENST00000413383|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ENSG00000233000|ENST00000413383|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 62 61 64 65 0 0 ./. 10 12 1 2 185 161 190 178 10 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721435686 4 57013128 GGTTTAAGAAAGAAAAGGT G 348 PASS - - - - - Del - D 57013128 57013149 18 48 644.687 - - 1 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 7 5 8 5 34 22 34 22 8 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721436620 4 59354464 AC A 420 PASS - - - - - Del - D 59354464 59354469 1 20 374.362 - - 4 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 4 3 5 24 33 24 33 3 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721437203 4 60788138 G GATGTAAGAATCGTTCTATAT 356 PASS - - - - - Ins - I 60788138 60788162 20 45 500.795 - - 1 1 1 - - ./. 0 0 0 0 24 16 25 16 0 0 ./. 8 4 3 2 48 39 55 42 8 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721437732 4 62208413 TCTAGCACCCGTCTCATAGCTTTTGTCTTGCCAAACCCTTAAACTTCTTTTCAGTGACTTCAAACAGCCATAATTTTAACACATTTCAGTTCTTTGGCTTAACCATCTCTAGTAGCCTCACCA T 261 PASS LPHN3 ENST00000512091 r.? - - Del intronic D 62208413 62208538 122 28 481.408 - - 1 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 6 0 0 16 22 19 28 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721438217 4 63542150 TG T 480 PASS - - - - - Del - D 63542150 63542155 1 24 430.594 - - 4 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 3 7 3 32 33 32 33 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721438268 4 63735185 A AT 389 PASS - - - - - Ins - I 63735185 63735194 1 20 372.556 - - 8 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 4 3 4 4 39 29 39 29 4 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721438372 4 64035126 A AT 360 PASS - - - - - Ins - I 64035126 64035136 1 16 318.731 - - 9 1 1 - - ./. 0 0 0 0 12 6 13 6 0 0 ./. 3 3 5 4 34 24 34 24 5 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721438534 4 64485238 CCTCACTATGCAAACGTTATTCAAGCTTCCACTTGTATCAGATGTGCTGCTATCTCCCTGTCCAAACTCAGATTCAATGTGAGAATATAGATGGATATCAGAAAGCACGACATCACTGGCCCATTCTACAACATTCCACTATAATGATGTCATTAATGGATAATAACAGAATCCAAATAAATAAATTATGGGAAGAAAATGCCTTGCAACCAAACTTCCCTGTAATCTCTAAAAGTTGTCTCTTTGTTGCTCAGAAAATTAG CTACCTCATCATA 493 PASS - - - - - Complex - DI 64485239 64485499 261 88 0 - - 0 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 10 7 0 0 15 19 25 26 10 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721441079 4 71094889 TTGC T 569 PASS C4orf7 CCDS3537.1 r.? - - Del intronic D 71094889 71094897 3 35 538.243 - - 2 1 1 C4orf7|CCDS3537.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf7|CCDS3537.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 6 5 8 42 30 42 30 5 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721441202 4 71362710 AATTA AC 261 PASS - - - - - Complex - DI 71362711 71362714 4 30 0 - - 0 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 5 4 0 0 33 29 33 29 5 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721441507 4 72235647 T TAC 480 PASS SLC4A4 CCDS3549.1 r.? - - Ins intronic I 72235647 72235660 2 21 420.961 - - 6 1 1 SLC4A4|CCDS3549.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC4A4|CCDS3549.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 6 5 7 32 31 32 32 5 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721441910 4 73412352 GA G 329 PASS ADAMTS3 CCDS3553.1 r.? - - Del intronic D 73412352 73412360 1 15 322.946 - - 7 1 1 ADAMTS3|CCDS3553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS3|CCDS3553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 2 4 3 7 36 41 36 41 3 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721444401 4 80788506 ATTGAAATCATAGACCTAAATGTCATCT A 406 PASS - - - - - Del - D 80788506 80788538 27 63 753.54 - - 1 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 6 8 4 6 24 26 26 28 6 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721444671 4 81700936 TGAGAA T 540 PASS C4orf22 CCDS3587.1 r.? - - Del intronic D 81700936 81700944 5 30 484.419 - - 1 1 1 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 28 15 28 0 0 ./. 4 5 5 5 24 36 24 36 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721447495 4 89478285 TC T 389 PASS HERC3 ENST00000513325 r.? - - Del intronic D 89478285 89478287 1 18 376.168 - - 1 1 1 HERC3|ENST00000513325|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HERC3|ENST00000513325|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 2 5 2 9 24 35 24 35 2 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721451286 4 101780973 TG T 780 PASS - - - - - Del - D 101780973 101780976 1 56 699.716 - - 2 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 6 7 8 10 38 42 38 42 8 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721453531 4 109393484 AAT A 329 PASS - - - - - Del - D 109393484 109393489 2 15 322.946 - - 2 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 2 4 4 4 23 30 23 30 4 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721453708 4 109804606 T TA 300 PASS COL25A1 CCDS43258.1 r.? - - Ins intronic I 109804606 109804614 1 12 266.111 - - 7 1 1 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 2 5 5 36 36 36 36 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721453952 4 110616559 AAGACCC A 290 PASS CASP6 CCDS3684.1 r.? - - Del intronic D 110616559 110616569 6 32 538.243 - - 1 1 1 CASP6|CCDS3684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CASP6|CCDS3684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 7 3 7 3 27 24 27 24 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721454463 4 111950893 A AT 720 PASS - - - - - Ins - I 111950893 111950900 1 45 638.667 - - 6 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 8 4 10 9 37 31 38 31 10 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721456381 4 117335240 AC A 600 PASS - - - - - Del - D 117335240 117335246 1 32 536.437 - - 5 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 7 3 9 6 36 32 36 32 9 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721456652 4 118030793 AT A 540 PASS - - - - - Del - D 118030793 118030800 1 28 484.419 - - 6 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 6 9 6 31 27 31 27 9 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721457181 4 119685654 CTGTACGGAACTACTGCATTAAGAACCAGGTATATTCTGTCTGGCAAGGACATAAAAAATTATTGTTTT C 290 PASS SEC24D CCDS3710.1 r.? - - Del intronic D 119685654 119685723 68 35 538.243 - - 1 1 1 SEC24D|CCDS3710.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEC24D|CCDS3710.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 17 23 17 0 0 ./. 6 4 0 0 23 26 29 30 6 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721459115 4 124808940 TGGGAAAAA T 290 PASS - - - - - Del - D 124808940 124808951 8 35 538.243 - - 1 1 1 - - ./. 0 0 0 0 3 10 3 10 0 0 ./. 4 6 4 6 24 24 24 24 4 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721459560 4 126272573 A AT 420 PASS FAT4 CCDS3732.3 r.? - - Ins intronic I 126272573 126272579 1 14 372.556 - - 5 1 1 FAT4|CCDS3732.3|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAT4|CCDS3732.3|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 1 6 1 7 29 37 30 38 1 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721461069 4 130786906 AG A 360 PASS - - - - - Del - D 130786906 130786909 1 16 322.344 - - 2 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 3 3 3 4 42 35 42 35 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721461318 4 131581793 CTACGTTTCTACTAGGAAGACAGATTGATATAGTAAATAATACCATTTCAGTATATTTTTTAAAAGACTGTGTTTAAAGACATTGATTGCTGGCAATTTTCTTCTAAATAATAAATAGCCTTGATAATTAATTATGCGGGTGTTTATACATTATTTCCAGCATGCAAAGTCCATGCTAGCATTCCTAATTCACATCAGAGGAGGTAATGTTGTTATAAGTAAAATATATATAATTCTGATTTTAAATATTCTACTAAATGGTAAAGAAATCAATATTCCCATTATCTCTAGATATTGAGAAAAAAGAAATACACCCATTTAAAAACATAGGAAAAACTTAATTAATGTGCAAATAATGTAATAATGTGGGATAGATAATTGTAAACACAATGCATACAAATTGAAAAAATAAAACCTTCAAAGCCAGACACATTGCATCTCTCTGACCCTTCTGTGGTCACATTTCCCCTTTCATTACAATAAGGAAATATTCTTAGCTTTTAAGGATACATGTGATTAGATTGCATGTCCAGAAAATTCTGGCTGTTCTCTCCATCTCATGG C 319 PASS - - - - - Del - D 131581793 131582357 562 42 592.067 - - 1 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 6 5 0 0 22 25 28 30 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721462252 4 133998495 TA T 360 PASS - - - - - Del - D 133998495 133998497 1 15 322.946 - - 1 1 1 - - ./. 0 0 0 0 27 13 27 13 0 0 ./. 4 2 5 3 30 38 30 38 5 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721463710 4 138391868 GTTCTT G 449 PASS - - - - - Del - D 138391868 138391877 5 24 428.788 - - 1 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 3 5 5 5 29 40 29 40 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721463968 4 139141557 TC T 300 PASS SLC7A11 CCDS3742.1 r.? - - Del intronic D 139141557 139141560 1 6 269.121 - - 2 1 1 SLC7A11|CCDS3742.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC7A11|CCDS3742.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 5 0 8 1 30 22 30 22 8 1 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721464006 4 139241120 GC G 1260 PASS - - - - - Del - D 139241120 139241123 1 130 1130.31 - - 2 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 12 9 14 12 33 33 33 33 14 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721466219 4 146022186 CGATAGATGT C 377 PASS ABCE1 CCDS34071.1 r.? - - Del intronic D 146022186 146022197 9 50 699.716 - - 1 1 1 ABCE1|CCDS34071.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ABCE1|CCDS34071.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 9 5 9 23 34 23 34 5 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721466820 4 148168030 GC G 780 PASS - - - - - Del - D 148168030 148168033 1 44 699.716 - - 2 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 3 10 3 13 24 33 24 33 3 13 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721467465 4 149935343 TA T 780 PASS - - - - - Del - D 149935343 149935347 1 50 699.716 - - 3 1 1 - - ./. 0 0 0 0 4 18 4 18 0 0 ./. 4 9 5 10 23 36 23 36 5 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721468183 4 152102888 G GA 360 PASS SH3D19 CCDS47144.1 r.? - - Ins intronic I 152102888 152102896 1 15 319.333 - - 7 1 1 SH3D19|CCDS47144.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SH3D19|CCDS47144.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 2 4 4 4 23 21 23 22 4 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721468385 4 152566263 TTTCATGAAACTGCGCTTATGAAAACAGCTGCCACCACATCAGACCTGCAGGGTGTGTCTGGTTCTTACTGACAGCAGGTTCAAAATATATA T 377 PASS FAM160A1 CCDS47146.1 r.? - - Del intronic D 152566263 152566356 91 54 698.512 - - 1 1 1 FAM160A1|CCDS47146.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM160A1|CCDS47146.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 8 5 0 0 29 23 37 28 8 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721469547 4 156068362 A AT 300 PASS - - - - - Ins - I 156068362 156068369 1 10 266.111 - - 6 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 1 4 2 28 31 28 33 4 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721469670 4 156391836 TC T 360 PASS - - - - - Del - D 156391836 156391840 1 16 322.946 - - 3 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 3 3 6 5 26 34 26 34 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721470703 4 159381248 TA T 420 PASS RXFP1 ENST00000460056 r.? - - Del intronic D 159381248 159381253 1 18 376.77 - - 4 1 1 RXFP1|ENST00000460056|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RXFP1|ENST00000460056|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 23 6 23 0 0 ./. 2 5 3 6 26 37 26 37 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721471580 4 161535769 CT C 300 PASS - - - - - Del - D 161535769 161535776 1 12 269.121 - - 6 1 1 - - ./. 0 0 0 0 14 26 14 26 0 0 ./. 2 3 5 5 33 31 33 31 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721472051 4 162696645 GTTCGGTAGTGCCCTTGAATA G 261 PASS FSTL5 CCDS3802.1 r.? - - Del intronic D 162696645 162696668 20 28 484.419 - - 1 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 6 2 5 30 43 31 44 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721472123 4 162889505 T TA 840 PASS FSTL5 CCDS3802.1 r.? - - Ins intronic I 162889505 162889515 1 60 743.907 - - 9 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 9 5 13 6 45 28 45 28 13 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721473982 4 167503529 AAGTT A 507 PASS - - - - - Del - D 167503529 167503536 4 36 535.835 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 5 6 9 16 22 16 22 6 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721476693 4 174989834 TG T 600 PASS - - - - - Del - D 174989834 174989838 1 27 537.641 - - 3 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 8 9 11 40 41 40 41 9 11 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721477262 4 176551612 G GA 480 PASS GPM6A CCDS3824.1 r.? - - Ins downstream I 176551612 176551620 1 24 425.778 - - 7 1 1 GPM6A|CCDS3824.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 GPM6A|CCDS3824.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 19 20 19 20 0 0 ./. 5 3 7 4 47 42 49 42 7 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721480417 4 184517133 GA G 300 PASS - - - - - Del - D 184517133 184517138 1 10 269.121 - - 4 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 1 4 1 6 21 24 21 24 1 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721484458 5 1360387 AT A 540 PASS ENSG00000227483 ENST00000446513 r.? - - Del intronic D 1360387 1360389 1 28 483.826 - - 1 1 1 ENSG00000227483|ENST00000446513|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000227483|ENST00000446513|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 3 8 6 42 25 42 25 8 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721485114 5 3172801 AAGAT A 329 PASS - - - - - Del - D 3172801 3172808 4 12 323.353 - - 1 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 1 5 2 6 20 30 20 30 2 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721485691 5 4644812 C CA 420 PASS - - - - - Ins - I 4644812 4644819 1 14 371.225 - - 6 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 1 6 2 7 28 30 28 31 2 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721487487 5 9913243 AAG A 300 PASS - - - - - Del - D 9913243 9913263 2 6 269.461 - - 9 1 - - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 0 5 0 41 29 41 29 5 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721493002 5 23833358 GA G 1020 PASS - - - - - Del - D 23833358 23833366 1 84 915.566 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 6 11 8 15 42 53 42 53 8 15 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721493726 5 25701113 T TA 478 PASS - - - - - Ins - I 25701113 25701122 1 30 479.612 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 4 8 4 50 40 50 40 8 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721494183 5 26714462 TA T 420 PASS - - - - - Del - D 26714462 26714472 1 20 375.439 - - 9 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 4 3 4 5 40 38 40 38 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721494256 5 26838867 AT A 538 PASS - - - - - Del - D 26838867 26838873 1 35 537.718 - - 5 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 6 4 7 6 43 33 43 33 7 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721494278 5 26905433 AAT A 360 PASS CDH9 CCDS3893.1 r.? - - Del intronic D 26905433 26905436 2 15 323.353 - - 1 1 1 CDH9|CCDS3893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH9|CCDS3893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 4 3 4 38 33 38 33 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721494281 5 26906232 A AT 360 PASS CDH9 CCDS3893.1 r.819_820insa c.646_647insA p.I216fs*14 Ins frameshift I 26906232 26906234 1 12 319.741 - - 1 1 1 CDH9|CCDS3893.1|r.819_820insa|c.646_647insA|p.I216fs*14|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 CDH9|CCDS3893.1|r.819_820insa|c.646_647insA|p.I216fs*14|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 8 16 8 16 0 0 ./. 5 1 7 3 39 42 41 43 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721494361 5 27055212 G GT 517 PASS CDH9 ENST00000513289 r.? - - Ins intronic I 27055212 27055219 1 28 477.805 - - 6 1 1 CDH9|ENST00000513289|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CDH9|ENST00000513289|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 3 7 9 34 46 34 46 7 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721494373 5 27113608 TTATGAAACAAGAGATGCTG TTCTCC 435 PASS CDH9 ENST00000513289 r.? - - Complex intronic DI 27113609 27113627 19 72 0 - - 0 1 1 CDH9|ENST00000513289|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 CDH9|ENST00000513289|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 7 8 0 0 40 36 41 37 7 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721494743 5 28060647 AC A 418 PASS - - - - - Del - D 28060647 28060649 1 21 431.138 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 6 3 10 38 35 38 35 3 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721495014 5 28641828 GGTCTTGATTTCCTGACCTCGTGATCTGCCC G 290 PASS - - - - - Del - D 28641828 28641860 30 32 535.912 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 7 3 6 26 41 26 42 3 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721495024 5 28686315 TA T 420 PASS - - - - - Del - D 28686315 28686324 1 20 377.246 - - 8 1 1 - - ./. 0 0 0 0 26 28 26 28 0 0 ./. 4 3 8 5 41 42 41 42 8 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721497360 5 33765819 G GA 540 PASS ADAMTS12 ENST00000504830 r.? - - Ins intronic I 33765819 33765829 1 28 477.805 - - 9 1 1 ADAMTS12|ENST00000504830|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAMTS12|ENST00000504830|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 26 21 26 0 0 ./. 3 6 4 7 34 48 34 48 4 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721500943 5 42404720 TCTCTTGAGCTAAA T 435 PASS - - - - - Del - D 42404720 42404736 13 60 800.557 - - 1 1 1 - - ./. 0 0 0 0 21 27 21 27 0 0 ./. 11 4 11 4 50 35 50 35 11 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721502641 5 50950048 AAGATTG A 319 PASS - - - - - Del - D 50950048 50950057 6 42 591.61 - - 1 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 5 6 5 6 39 36 39 36 5 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721502869 5 51587076 GT G 300 PASS - - - - - Del - D 51587076 51587084 1 10 269.461 - - 7 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 4 1 6 2 30 29 30 29 6 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721505453 5 58023102 TAC T 300 PASS RAB3C CCDS3976.1 r.? - - Del intronic D 58023102 58023120 2 6 268.257 - - 8 1 1 RAB3C|CCDS3976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB3C|CCDS3976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 5 0 5 0 42 27 42 27 5 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721511299 5 77983486 GCAACC G 433 PASS - - - - - Del - D 77983486 77983495 5 30 485.03 - - 1 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 5 5 5 17 16 17 17 5 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721515695 5 93210537 AG A 360 PASS MIR2277 CCDS4069.1 r.? - - Del intronic D 93210537 93210539 1 15 323.353 - - 1 1 1 MIR2277|CCDS4069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR2277|CCDS4069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 4 5 5 18 12 18 12 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721519095 5 104348515 T TGC 540 PASS ENSG00000232402 ENST00000438939 r.? - - Ins intronic I 104348515 104348516 2 30 473.591 - - 0 1 1 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 5 4 5 29 35 30 35 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721519546 5 105857446 TAGGTCTTCTA T 261 PASS - - - - - Del - D 105857446 105857460 10 24 482.02 - - 1 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 7 2 7 2 35 35 35 35 7 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721523560 5 119028468 G GTA 360 PASS - - - - - Ins - I 119028468 119028482 2 12 313.72 - - 6 1 1 - - ./. 0 0 0 0 16 19 18 19 0 0 ./. 1 5 3 6 24 30 24 30 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721523786 5 119935855 A AT 540 PASS PRR16 CCDS4127.1 r.? - - Ins intronic I 119935855 119935865 1 28 472.989 - - 9 1 1 PRR16|CCDS4127.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRR16|CCDS4127.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 3 7 7 50 30 50 30 7 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721523880 5 120132440 GA G 720 PASS - - - - - Del - D 120132440 120132443 1 48 646.707 - - 2 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 7 7 10 28 35 28 35 7 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721526783 5 128680907 GGCTAT G 478 PASS - - - - - Del - D 128680907 128680913 5 30 483.826 - - 1 1 1 - - ./. 0 0 0 0 23 22 23 22 0 0 ./. 5 4 5 5 31 33 31 33 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721527882 5 132103775 TG T 900 PASS SEPT8 CCDS43360.1 r.? - - Del intronic D 132103775 132103781 1 72 808.384 - - 5 1 1 SEPT8|CCDS43360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEPT8|CCDS43360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 7 8 9 10 30 22 30 22 9 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721529305 5 136838685 CT C 480 PASS SPOCK1 CCDS4191.1 r.? - - Del upstream D 136838685 136838693 1 24 430.536 - - 7 1 1 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 5 4 6 24 34 24 34 4 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721530187 5 138784035 G GA 300 PASS DNAJC18 ENST00000515581 r.? - - Ins upstream I 138784035 138784045 1 12 265.849 - - 9 1 1 DNAJC18|ENST00000515581|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 DNAJC18|ENST00000515581|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 2 3 5 35 37 37 38 3 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721530880 5 140835991 T TTA 354 PASS PCDHGA12 CCDS47291.1 r.? - - Ins intronic I 140835991 140835996 2 16 313.118 - - 2 1 1 PCDHGA12|CCDS47291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCDHGA12|CCDS47291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 3 3 6 28 33 30 33 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721531830 5 143710423 TC T 418 PASS KCTD16 CCDS34260.1 r.? - - Del intronic D 143710423 143710427 1 21 431.138 - - 3 1 1 KCTD16|CCDS34260.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCTD16|CCDS34260.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 14 23 14 0 0 ./. 6 2 7 2 25 42 25 42 7 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721532402 5 145424628 TG T 300 PASS SH3RF2 CCDS4280.1 r.? - - Del intronic D 145424628 145424631 1 6 269.461 - - 2 1 1 SH3RF2|CCDS4280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3RF2|CCDS4280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 12 24 12 0 0 ./. 0 5 3 6 37 29 37 29 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721533268 5 148131790 C CT 297 PASS - - - - - Ins - I 148131790 148131799 1 12 266.451 - - 8 1 1 - - ./. 0 0 0 0 20 18 20 19 0 0 ./. 3 2 6 3 31 46 31 46 6 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721534711 5 152521716 TAGTAATGATAATAGCA T 493 PASS - - - - - Del - D 152521716 152521735 16 70 916.168 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 13 4 13 4 48 32 49 32 14 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721534712 5 152523870 G GAAAAAGA 725 PASS - - - - - Ins - I 152523870 152523880 7 182 1238.33 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 13 12 13 12 45 72 45 72 13 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721536037 5 155922912 TTGC T 1165 PASS SGCD CCDS47325.1 r.? - - Del intronic D 155922912 155922917 3 143 1185.63 - - 1 1 1 SGCD|CCDS47325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCD|CCDS47325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 10 12 12 12 40 32 40 32 12 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721537030 5 158280025 GTGGGTGGTCTACA G 319 PASS EBF1 CCDS4343.1 r.? - - Del intronic D 158280025 158280042 13 40 592.815 - - 1 1 1 EBF1|CCDS4343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EBF1|CCDS4343.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 7 4 0 0 56 55 56 55 7 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721540610 5 167538545 CCT C 300 PASS ODZ2 ENST00000403607 r.? - - Del intronic D 167538545 167538559 2 6 267.655 - - 6 1 1 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 0 5 0 51 31 51 31 5 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721541239 5 169252048 GA G 586 PASS DOCK2 CCDS4371.1 r.? - - Del intronic D 169252048 169252052 1 238 1562.27 - - 3 1 1 DOCK2|CCDS4371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK2|CCDS4371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 16 13 19 13 53 42 53 47 19 18 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721541371 5 169746059 CCT C 300 PASS - - - - - Del - D 169746059 169746072 2 12 269.461 - - 6 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 2 3 2 4 41 43 41 43 2 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721542007 5 171412835 CA C 389 PASS FBXW11 CCDS34289.1 r.? - - Del intronic D 171412835 171412838 1 20 377.246 - - 2 1 1 FBXW11|CCDS34289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXW11|CCDS34289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 11 27 11 0 0 ./. 4 3 7 4 47 42 47 42 7 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721543124 5 173757207 AGATGGTGCAAGGTAGGAAGAGCTAG A 261 PASS - - - - - Del - D 173757207 173757234 25 24 482.02 - - 1 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 2 7 2 5 53 46 53 48 2 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721545039 5 177770014 GAGTACCGA G 406 PASS COL23A1 CCDS4436.1 r.? - - Del intronic D 177770014 177770026 8 48 749.675 - - 1 1 1 COL23A1|CCDS4436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL23A1|CCDS4436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 11 4 14 41 54 41 54 4 14 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721546177 5 179869523 ATC A 300 PASS - - - - - Del - D 179869523 179869540 2 10 269.461 - - 8 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 1 4 1 4 39 44 39 44 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721547536 6 2649817 TA T 360 PASS - - - - - Del - D 2649817 2649821 1 15 322.992 - - 3 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 4 3 4 30 23 30 23 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721553843 6 18460857 GCT G 300 PASS RNF144B CCDS34345.1 r.? - - Del intronic D 18460857 18460872 2 12 269.662 - - 7 1 1 RNF144B|CCDS34345.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF144B|CCDS34345.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 14 22 14 0 0 ./. 3 2 3 3 26 21 26 21 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721560554 6 33700955 CTG C 780 PASS IP6K3 CCDS34435.1 r.? - - Del intronic D 33700955 33700962 2 44 699.315 - - 3 1 1 IP6K3|CCDS34435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IP6K3|CCDS34435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 3 10 6 12 23 41 23 41 6 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721561425 6 35862828 CAAG C 958 PASS SRPK1 CCDS47415.1 r.? - - Del intronic D 35862828 35862834 3 90 909.625 - - 1 1 1 SRPK1|CCDS47415.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRPK1|CCDS47415.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 9 8 9 11 26 44 26 44 9 11 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721563341 6 41408261 AATTTTTGT A 290 PASS - - - - - Del - D 41408261 41408277 8 35 536.313 - - 1 1 1 - - ./. 0 0 0 0 19 6 19 6 0 0 ./. 4 6 7 6 28 17 28 17 7 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721563674 6 42252187 AGCATTCAACAGTGAAAAATGTGTCGCCTGTCACACATTCTCAGCTGAGGTAGAACAAGGTGACTCTTACTTTTCACTGAAATAGCACTTCTCTTTCTTTTTT A 261 PASS TRERF1 CCDS4867.1 r.? - - Del intronic D 42252187 42252297 102 28 479.371 - - 1 1 1 TRERF1|CCDS4867.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRERF1|CCDS4867.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 18 25 18 0 0 ./. 3 6 0 0 29 23 32 29 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721564772 6 45228306 G GTC 360 PASS SUPT3H CCDS34466.1 r.? - - Ins intronic I 45228306 45228313 2 16 316.369 - - 3 1 1 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 3 3 3 3 33 33 33 33 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721565870 6 48598120 TCA T 780 PASS - - - - - Del - D 48598120 48598125 2 50 698.712 - - 2 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 9 5 9 33 28 33 28 5 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721566887 6 51858759 G GA 300 PASS PKHD1 CCDS4935.1 r.? - - Ins intronic I 51858759 51858769 1 12 263.039 - - 9 1 1 PKHD1|CCDS4935.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PKHD1|CCDS4935.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 28 18 28 0 0 ./. 3 2 4 2 28 38 29 38 4 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721567610 6 53848603 C CT 360 PASS C6orf142 ENST00000505762 r.? - - Ins intronic I 53848603 53848612 1 16 316.972 - - 8 1 1 C6orf142|ENST00000505762|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C6orf142|ENST00000505762|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 3 3 3 5 44 36 44 36 3 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721570535 6 63035206 T TA 300 PASS - - - - - Ins - I 63035206 63035215 1 12 265.447 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 2 4 29 31 30 32 2 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721571451 6 65831481 TG T 360 PASS EYS CCDS47445.1 r.? - - Del intronic D 65831481 65831488 1 15 323.594 - - 6 1 1 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 2 4 4 4 40 30 40 30 4 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721572818 6 69199674 GATTTTCCA G 261 PASS - - - - - Del - D 69199674 69199688 8 30 485.391 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 5 4 7 26 39 26 39 4 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721572893 6 69460480 A AT 300 PASS BAI3 CCDS4968.1 r.? - - Ins intronic I 69460480 69460487 1 10 266.652 - - 6 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 16 20 16 0 0 ./. 1 4 2 5 18 41 18 42 2 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721574126 6 73367973 AT A 540 PASS KCNQ5 CCDS4976.1 r.? - - Del intronic D 73367973 73367979 1 10 485.391 - - 5 1 1 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 1 22 1 22 0 0 ./. 0 9 0 9 2 35 2 35 0 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721577787 6 85932778 T TA 449 PASS - - - - - Ins - I 85932778 85932786 1 24 426.04 - - 7 1 1 - - ./. 0 0 0 0 19 24 19 24 0 0 ./. 5 3 8 4 29 19 29 19 8 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721578414 6 88217656 CTTCAG C 449 PASS SLC35A1 CCDS5010.1 r.? - - Del intronic D 88217656 88217664 5 25 430.255 - - 1 1 1 SLC35A1|CCDS5010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC35A1|CCDS5010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 4 4 5 5 25 24 25 24 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721581409 6 98642773 TG T 360 PASS - - - - - Del - D 98642773 98642779 1 15 322.992 - - 5 1 1 - - ./. 0 0 0 0 23 13 23 13 0 0 ./. 2 4 3 4 26 16 26 16 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721585502 6 111776169 G GT 300 PASS REV3L CCDS5091.2 r.? - - Ins intronic I 111776169 111776176 1 12 265.447 - - 6 1 1 REV3L|CCDS5091.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 REV3L|CCDS5091.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 19 23 20 0 0 ./. 2 3 2 3 25 20 25 21 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721587423 6 118825681 ATC A 540 PASS C6orf204 CCDS43498.1 r.? - - Del intronic D 118825681 118825686 2 28 485.391 - - 2 1 1 C6orf204|CCDS43498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf204|CCDS43498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 3 7 4 24 22 24 22 7 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721588367 6 121692593 TCAAGGAGGTGGGTTTTTGAAAAGATTAACAAAAGAGCTAGACCACTAGCCAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGACACACA T 261 PASS - - - - - Del - D 121692593 121692691 94 28 484.789 - - 1 1 1 - - ./. 0 0 0 0 23 13 23 13 0 0 ./. 3 6 0 0 24 19 27 25 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721590029 6 127796017 TATGG T 476 PASS C6orf174 CCDS34531.1 r.? - - Del intronic D 127796017 127796024 4 20 535.109 - - 1 1 1 C6orf174|CCDS34531.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C6orf174|CCDS34531.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 9 1 12 2 34 15 34 15 12 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721590326 6 129012799 CTT C 300 PASS - - - - - Del - D 129012799 129012802 2 12 268.458 - - 2 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 3 2 4 2 31 31 31 31 4 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721590695 6 130048860 ATGATAAAAT A 377 PASS - - - - - Del - D 130048860 130048872 9 56 700.519 - - 1 1 1 - - ./. 0 0 0 0 10 23 10 23 0 0 ./. 7 6 9 6 29 20 29 20 9 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721591259 6 131968945 GT G 780 PASS ENPP3 CCDS5148.1 r.? - - Del intronic D 131968945 131968950 1 50 700.519 - - 4 1 1 ENPP3|CCDS5148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENPP3|CCDS5148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 9 4 10 6 33 19 33 19 10 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721591899 6 134135346 TCAGGAC T 261 PASS - - - - - Del - D 134135346 134135353 6 30 485.391 - - 1 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 5 4 5 5 17 20 18 20 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721596038 6 149613458 ACT A 480 PASS - - - - - Del - D 149613458 149613463 2 25 431.459 - - 2 1 1 - - ./. 0 0 0 0 8 22 8 22 0 0 ./. 4 4 4 6 30 39 30 39 4 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721597761 6 154232605 C CCAA 300 PASS - - - - - Ins - I 154232605 154232612 3 10 260.631 - - 2 1 1 - - ./. 0 0 0 0 24 19 24 19 0 0 ./. 4 1 4 1 27 39 27 39 4 1 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721602029 6 166642322 AT A 840 PASS - - - - - Del - D 166642322 166642325 1 63 753.247 - - 2 1 1 - - ./. 0 0 0 0 25 18 25 18 0 0 ./. 6 8 6 9 23 37 23 37 6 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721608925 7 13234661 GCCTCCCGAGTAGCTGGGA G 377 PASS - - - - - Del - D 13234661 13234681 18 56 698.216 - - 1 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 6 7 5 6 21 25 22 26 6 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721609015 7 13439817 CA C 689 PASS - - - - - Del - D 13439817 13439823 1 48 646.128 - - 5 1 1 - - ./. 0 0 0 0 13 4 13 4 0 0 ./. 7 5 10 6 41 38 41 38 10 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721609410 7 14395534 GACTTTTTTTGGTTGGTAGGCTATTAATTACTGCCTCAATTTCAGA G 261 PASS DGKB CCDS47547.1 r.? - - Del intronic D 14395534 14395584 45 30 482.64 - - 1 1 1 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 5 3 0 35 25 36 30 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721611078 7 19080212 TGGATGTATGATGAGA T 435 PASS - - - - - Del - D 19080212 19080230 15 70 807.811 - - 1 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 9 6 9 6 43 32 43 32 9 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721612634 7 23239758 G GT 300 PASS NUPL2 CCDS5379.1 r.? - - Ins intronic I 23239758 23239767 1 12 258.634 - - 8 1 - NUPL2|CCDS5379.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUPL2|CCDS5379.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 19 25 19 0 0 ./. 3 2 4 2 52 43 53 43 4 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721612879 7 23649448 TCCAGC T 896 PASS CCDC126 CCDS5384.1 r.? - - Del intronic D 23649448 23649455 5 88 916.201 - - 1 1 1 CCDC126|CCDS5384.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCDC126|CCDS5384.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 10 7 13 8 30 37 30 37 13 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721615220 7 29680118 TTGGA T 507 PASS - - - - - Del - D 29680118 29680123 4 27 536.534 - - 1 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 8 2 11 3 37 17 37 17 11 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721617376 7 36185551 CACATAAATATAGTCA C 261 PASS - - - - - Del - D 36185551 36185569 15 30 485.048 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 4 5 4 29 25 29 25 5 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721618336 7 38676494 CG C 300 PASS - - - - - Del - D 38676494 38676498 1 10 269.471 - - 3 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 4 1 4 1 36 23 36 23 4 1 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721619331 7 41297197 TAGTGAAAAGAG T 551 PASS - - - - - Del - D 41297197 41297212 11 110 1023.99 - - 1 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 9 10 8 11 30 28 30 28 9 11 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721621805 7 48821931 CACTTTCAGGA C 348 PASS - - - - - Del - D 48821931 48821943 10 45 646.73 - - 1 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 8 4 9 5 33 27 33 27 9 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721623595 7 54134964 CA C 420 PASS - - - - - Del - D 54134964 54134968 1 20 377.259 - - 3 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 4 3 4 6 35 25 35 25 4 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721625470 7 57789473 TTAGA T 252 PASS - - - - - Del - D 57789473 57789478 4 12 269.471 - - 1 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 2 6 2 30 31 30 31 6 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721625783 7 61300353 GC G 313 PASS - - - - - Del - D 61300353 61300355 1 40 589.826 - - 1 1 1 - - ./. 0 0 0 0 36 18 36 18 0 0 ./. 7 4 8 4 86 68 86 68 8 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721626464 7 62418768 AT A 720 PASS - - - - - Del - D 62418768 62418773 1 48 646.73 - - 4 1 1 - - ./. 0 0 0 0 22 28 22 28 0 0 ./. 7 5 11 9 41 31 41 31 11 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721629587 7 68557197 AG A 360 PASS - - - - - Del - D 68557197 68557199 1 15 323.365 - - 1 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 2 4 2 4 32 25 32 25 2 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721634673 7 82437581 TATTAA T 360 PASS PCLO CCDS47630.1 r.? - - Del intronic D 82437581 82437593 5 15 323.365 - - 2 1 1 PCLO|CCDS47630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCLO|CCDS47630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 4 3 4 23 26 23 26 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721635602 7 84870523 TACG T 300 PASS - - - - - Del - D 84870523 84870527 3 10 269.471 - - 1 1 1 - - ./. 0 0 0 0 0 17 0 17 0 0 ./. 1 4 2 6 11 32 11 32 2 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721636337 7 86896584 AAGGAAATTAGC A 580 PASS - - - - - Del - D 86896584 86896598 11 117 1076.08 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 12 8 13 10 41 31 41 31 13 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721636456 7 87325524 GAATAACATTTCTTC G 348 PASS ABCB1 CCDS5608.1 r.? - - Del intronic D 87325524 87325541 14 45 646.73 - - 1 1 1 ABCB1|CCDS5608.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ABCB1|CCDS5608.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 8 4 8 43 62 43 62 4 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721637341 7 89924619 C CA 720 PASS C7orf63 CCDS43613.1 r.? - - Ins intronic I 89924619 89924622 1 45 638.302 - - 2 1 1 C7orf63|CCDS43613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C7orf63|CCDS43613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 21 14 21 0 0 ./. 4 8 7 14 38 41 38 41 7 14 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721639110 7 95423833 AGAC A 1318 PASS DYNC1I1 CCDS5644.1 r.? - - Del intronic D 95423833 95423840 3 150 1238.96 - - 2 1 1 DYNC1I1|CCDS5644.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DYNC1I1|CCDS5644.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 9 14 13 18 37 38 37 38 13 18 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721639534 7 96576545 G GT 360 PASS - - - - - Ins - I 96576545 96576553 1 15 319.753 - - 7 1 - - - ./. 0 0 0 0 24 23 24 23 0 0 ./. 4 2 8 2 41 37 42 38 8 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721641764 7 101171093 AG A 600 PASS EMID2 ENST00000397927 r.? - - Del intronic D 101171093 101171098 1 35 537.136 - - 4 1 1 EMID2|ENST00000397927|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EMID2|ENST00000397927|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 6 4 8 31 51 31 51 4 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721643179 7 104222022 CTGCC CTA 449 PASS LHFPL3 ENST00000424859 r.? - - Complex intronic DI 104222023 104222026 4 25 0 - - 0 1 1 LHFPL3|ENST00000424859|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 LHFPL3|ENST00000424859|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 4 0 0 42 43 42 43 4 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721644235 7 106506327 GT G 300 PASS PIK3CG CCDS5739.1 r.? - - Del intronic D 106506327 106506332 1 12 269.471 - - 4 1 1 PIK3CG|CCDS5739.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PIK3CG|CCDS5739.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 28 14 28 0 0 ./. 3 2 5 3 58 52 58 52 5 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721645405 7 109519985 G GA 600 PASS - - - - - Ins - I 109519985 109519995 1 20 530.513 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 9 1 10 6 57 39 58 40 10 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721646850 7 114013159 TG T 1169 PASS FOXP2 ENST00000324462 r.? - - Del intronic D 114013159 114013161 1 121 1076.08 - - 1 1 1 FOXP2|ENST00000324462|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FOXP2|ENST00000324462|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 10 10 14 16 29 32 29 32 14 16 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721646851 7 114014738 T TC 540 PASS FOXP2 ENST00000324462 r.? - - Ins intronic I 114014738 114014746 1 28 479.629 - - 7 1 1 FOXP2|ENST00000324462|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FOXP2|ENST00000324462|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 6 3 7 3 37 37 37 38 7 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721647487 7 115874929 AATACT AG 269 PASS TES CCDS5763.1 r.? - - Complex intronic DI 115874930 115874934 5 10 0 - - 0 1 1 TES|CCDS5763.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 TES|CCDS5763.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 1 4 0 0 39 53 39 53 1 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721648369 7 118673336 GT G 420 PASS - - - - - Del - D 118673336 118673340 1 20 377.259 - - 3 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 4 3 6 26 36 26 36 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721648911 7 120840350 AATT A 656 PASS C7orf58 CCDS34739.1 r.? - - Del intronic D 120840350 120840354 3 54 700.625 - - 1 1 1 C7orf58|CCDS34739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7orf58|CCDS34739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 5 8 5 10 32 37 32 37 5 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721648912 7 120840712 AAAAG A 538 PASS C7orf58 CCDS34739.1 r.? - - Del intronic D 120840712 120840722 4 27 538.942 - - 2 1 1 C7orf58|CCDS34739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7orf58|CCDS34739.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 8 2 10 3 34 35 34 35 10 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721651476 7 127966807 AC A 1049 PASS RBM28 CCDS5801.1 r.? - - Del intronic D 127966807 127966810 1 100 969.494 - - 2 1 1 RBM28|CCDS5801.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBM28|CCDS5801.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 9 9 11 13 32 37 32 37 11 13 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721652755 7 130337665 CAAAT C 269 PASS COPG2 ENST00000330992 r.? - - Del intronic D 130337665 130337671 4 12 269.471 - - 1 1 1 COPG2|ENST00000330992|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COPG2|ENST00000330992|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 4 3 47 36 47 36 4 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721654073 7 133774645 TA T 600 PASS - - - - - Del - D 133774645 133774649 1 27 537.738 - - 3 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 8 2 9 4 29 30 29 30 9 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721654706 7 135361577 G GT 300 PASS SLC13A4 CCDS5840.1 r.? - - Ins downstream I 135361577 135361578 1 12 266.461 - - 0 1 1 SLC13A4|CCDS5840.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SLC13A4|CCDS5840.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 17 27 17 27 0 0 ./. 3 2 5 4 41 39 42 40 5 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721655423 7 137444602 G GA 264 PASS DGKI CCDS5845.1 r.? - - Ins intronic I 137444602 137444612 1 12 266.461 - - 9 1 1 DGKI|CCDS5845.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DGKI|CCDS5845.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 3 2 29 34 29 35 3 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721658433 7 145324090 TGCCTTCTTGTTTCTAAAACG T 522 PASS - - - - - Del - D 145324090 145324116 20 99 970.096 - - 1 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 10 8 9 4 30 20 31 24 10 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721658840 7 146611563 A AT 420 PASS CNTNAP2 CCDS5889.1 r.? - - Ins intronic I 146611563 146611571 1 18 371.841 - - 7 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 14 0 0 ./. 2 5 4 7 33 41 34 41 4 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721660185 7 150077260 AACTGTTCCCATGTTCATCTGTAAAATGAAGAGATTAGATGGCAGTTGTCTCCTTTCAGCTTGAAGGTTCATGCTTCCGTGCTTCAAATCTGTTTTGTACTGAAATTTCTTTTATTTAAGTGTTCCCTTATGACAGTTTTTATTAATGGATTACTGTGTGTGGAGCCTGT A 377 PASS ZNF775 CCDS43678.1 r.? - - Del intronic D 150077260 150077434 169 54 695.808 - - 1 1 1 ZNF775|CCDS43678.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF775|CCDS43678.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 20 22 20 0 0 ./. 5 8 0 0 8 14 13 22 5 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721660305 7 150315989 G GCTTT 536 PASS - - - - - Ins - I 150315989 150315994 4 40 566.346 - - 1 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 4 7 9 8 24 19 25 19 9 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721664218 8 2985846 TA T 600 PASS CSMD1 ENST00000318252 r.? - - Del intronic D 2985846 2985848 1 27 539.456 - - 1 1 1 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD1|ENST00000318252|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 8 2 8 3 35 22 35 22 8 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721665563 8 6104392 C CA 389 PASS - - - - - Ins - I 6104392 6104400 1 18 373.405 - - 7 1 1 - - ./. 0 0 0 0 25 20 26 20 0 0 ./. 5 2 8 4 32 29 33 29 8 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721665767 8 6503078 CTT C 480 PASS MCPH1 CCDS43689.1 r.5085_5086delUU c.? p.? Del 3'UTR variant D 6503078 6503082 2 16 429.156 - - 3 1 1 MCPH1|CCDS43689.1|r.5085_5086delUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 MCPH1|CCDS43689.1|r.5085_5086delUU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 21 14 21 0 0 ./. 7 1 10 3 37 21 37 21 10 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721666385 8 8714266 CTGGTCAATTAATGAGTTAA C 278 PASS MFHAS1 CCDS34844.1 r.? - - Del intronic D 8714266 8714289 19 35 538.854 - - 1 1 1 MFHAS1|CCDS34844.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MFHAS1|CCDS34844.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 4 4 4 34 30 36 30 6 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721669987 8 17700246 GCTGTTTAAAAACA G 319 PASS - - - - - Del - D 17700246 17700262 13 42 592.799 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 5 7 5 22 18 22 18 7 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721672245 8 24203619 AT A 540 PASS ADAM28 CCDS34865.1 r.? - - Del intronic D 24203619 24203625 1 28 484.908 - - 5 1 1 ADAM28|CCDS34865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM28|CCDS34865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 6 5 7 28 35 28 35 5 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721678351 8 40440964 C CA 660 PASS ZMAT4 CCDS34885.1 r.? - - Ins intronic I 40440964 40440970 1 30 584.972 - - 5 1 1 ZMAT4|CCDS34885.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZMAT4|CCDS34885.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 24 21 24 0 0 ./. 2 9 2 10 34 39 34 39 2 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721678500 8 40806085 T TA 300 PASS - - - - - Ins - I 40806085 40806086 1 12 266.717 - - 0 1 1 - - ./. 0 0 0 0 20 18 22 18 0 0 ./. 2 3 4 4 23 33 23 33 4 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721679671 8 47028586 TC T 600 PASS - - - - - Del - D 47028586 47028588 1 35 538.854 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 4 7 5 28 26 28 26 7 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721680270 8 49728663 CTGCAA C 627 PASS - - - - - Del - D 49728663 49728671 5 45 646.143 - - 1 1 1 - - ./. 0 0 0 0 27 15 27 15 0 0 ./. 8 4 9 4 43 35 43 35 9 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721681690 8 54197583 GCTTTTCGGTATACGCACAC G 464 PASS - - - - - Del - D 54197583 54197603 19 77 863.129 - - 1 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 10 6 9 6 26 24 27 24 10 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721683693 8 61008905 CA C 360 PASS - - - - - Del - D 61008905 61008910 1 12 323.673 - - 4 1 1 - - ./. 0 0 0 0 18 22 18 22 0 0 ./. 5 1 8 2 33 33 33 33 8 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721683818 8 61344924 CAAAACAAATTAAATGT C 348 PASS - - - - - Del - D 61344924 61344945 16 40 647.347 - - 1 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 9 3 0 0 31 32 31 32 9 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721684533 8 63744520 T TA 300 PASS NKAIN3 ENST00000328472 r.? - - Ins intronic I 63744520 63744528 1 10 266.717 - - 7 1 1 NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 1 4 3 5 33 35 35 35 3 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721687496 8 72746041 GT G 300 PASS - - - - - Del - D 72746041 72746043 1 10 268.524 - - 1 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 4 1 6 3 46 37 46 37 6 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721687632 8 73282510 GACTGGCTATTATCA G 348 PASS - - - - - Del - D 73282510 73282527 14 45 646.745 - - 1 1 1 - - ./. 0 0 0 0 22 23 22 23 0 0 ./. 8 4 8 4 32 44 32 44 8 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721689113 8 77238123 CAG C 360 PASS - - - - - Del - D 77238123 77238143 2 16 321.265 - - 9 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 3 3 3 3 42 36 42 36 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721689324 8 77995007 C CA 833 PASS - - - - - Ins - I 77995007 77995008 1 60 795.938 - - 0 1 1 - - ./. 0 0 0 0 6 27 6 27 0 0 ./. 4 11 7 10 22 43 22 44 7 11 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721689506 8 78553745 T TGAAATAGTATG 435 PASS - - - - - Ins - I 78553745 78553759 11 66 708.639 - - 1 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 10 5 8 5 45 39 49 39 10 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721690143 8 80499836 C CT 360 PASS - - - - - Ins - I 80499836 80499845 1 12 313.438 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 1 8 4 35 46 35 46 8 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721691203 8 83726229 A AT 480 PASS - - - - - Ins - I 83726229 83726239 1 24 426.748 - - 9 1 1 - - ./. 0 0 0 0 15 15 16 16 0 0 ./. 3 5 5 5 45 34 45 36 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721693012 8 89088355 A AT 360 PASS MMP16 CCDS6246.1 r.? - - Ins intronic I 89088355 89088364 1 16 314.642 - - 8 1 1 MMP16|CCDS6246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MMP16|CCDS6246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 3 4 3 37 28 38 28 4 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721693801 8 91504953 G GA 300 PASS - - - - - Ins - I 91504953 91504963 1 12 265.513 - - 9 1 1 - - ./. 0 0 0 0 17 18 17 19 0 0 ./. 3 2 4 3 49 54 49 56 4 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721694186 8 92874516 TTTTGTTAAATCATAGTTGAATACATCTGGAAATCAAAACTTAGAAGAAAGGAAGACATGGCATTTTCTCTTAAGAGAGAGTGCTAAAATGTTTCTTCAAATGGGGTAGAGGAGAAAACGTGGAAGTTATAAGATTTTGATTACTTTTAGTGGTCTTTCCTCTGGACGC T 348 PASS - - - - - Del - D 92874516 92874689 168 48 647.347 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 7 0 0 34 27 39 34 5 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721695782 8 96772397 AGTTTGAACTTTCTAAATATTAATGAAAGGAATGAATTAACTAATATTTCTGCCTCATATTATCACCAAAAGAAAAGTGACTGGTGCCCAGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGTGGATCACGAGATCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACGAAAAATACAAAAATTAGCCAAGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTG A 261 PASS - - - - - Del - D 96772397 96772687 288 28 485.51 - - 1 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 3 6 0 0 40 43 43 49 3 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721696509 8 98703489 G GA 300 PASS MTDH CCDS6274.1 r.? - - Ins intronic I 98703489 98703499 1 12 266.717 - - 9 1 1 MTDH|CCDS6274.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTDH|CCDS6274.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 3 2 4 66 52 67 53 2 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721699801 8 106566839 CT C 480 PASS ZFPM2 CCDS47908.1 r.? - - Del intronic D 106566839 106566843 1 25 431.564 - - 3 1 1 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 23 15 23 0 0 ./. 4 4 7 4 53 51 53 51 7 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721700604 8 108627368 ATCTGATAATTCTT A 580 PASS - - - - - Del - D 108627368 108627385 13 120 1077.71 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 9 11 12 12 50 34 50 34 12 12 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721700655 8 108750703 TCATGTTAAAATGT TATA 319 PASS - - - - - Complex - DI 108750704 108750716 13 42 0 - - 0 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 5 6 0 0 52 56 52 56 5 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721700972 8 109699161 AG A 689 PASS - - - - - Del - D 109699161 109699163 1 45 646.143 - - 1 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 4 8 7 10 54 55 54 55 7 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721701312 8 110534246 TCCTCCCCTCATTAATATGACTGCTGTGTTTTG T 435 PASS PKHD1L1 CCDS47911.1 r.? - - Del intronic D 110534246 110534280 32 72 809.183 - - 1 1 1 PKHD1L1|CCDS47911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKHD1L1|CCDS47911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 8 7 5 2 40 32 43 37 8 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721701603 8 111369465 CTAGATTGGCTAAAACCAATA C 290 PASS - - - - - Del - D 111369465 111369489 20 36 539.456 - - 1 1 1 - - ./. 0 0 0 0 20 9 20 9 0 0 ./. 5 5 4 5 54 41 55 41 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721701941 8 112291309 TA T 300 PASS - - - - - Del - D 112291309 112291319 1 12 267.32 - - 9 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 2 3 2 3 29 52 29 52 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721702198 8 112873272 GC G 480 PASS - - - - - Del - D 112873272 112873274 1 24 431.565 - - 1 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 5 3 5 7 40 56 40 56 5 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721702674 8 114172172 AAT A 360 PASS CSMD3 CCDS6315.1 r.? - - Del intronic D 114172172 114172189 2 16 318.857 - - 8 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 3 3 3 52 57 52 57 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721703293 8 115721469 TAAATA T 540 PASS - - - - - Del - D 115721469 115721477 5 18 485.51 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 1 8 2 10 43 51 43 51 2 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721703342 8 115900167 TA T 540 PASS - - - - - Del - D 115900167 115900175 1 28 485.51 - - 7 1 1 - - ./. 0 0 0 0 20 6 20 6 0 0 ./. 6 3 7 4 45 29 45 29 7 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721707295 8 125030781 TATGCT TGA 383 PASS FER1L6 CCDS43767.1 r.? - - Complex intronic DI 125030782 125030786 5 35 0 - - 0 1 1 FER1L6|CCDS43767.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 FER1L6|CCDS43767.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 24 22 24 22 0 0 ./. 4 6 0 0 57 49 57 49 4 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721708826 8 128552153 AG A 540 PASS - - - - - Del - D 128552153 128552155 1 28 485.51 - - 1 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 3 6 9 7 42 70 42 70 9 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721710552 8 133290619 GAAACATCTACCAGTGCTGCGTCGACACATGCTTCCTGGTATTCCTGTCTGAAAGAGCAGCTTCCTATGGGCTAGTGATCCTTGGGCAGTAAGACCAACTCTCAACTTTCCCACGACAGTTTATTTTGATGTAAGTGGAAAGGGACCCTTGAGTCAGACCTTCTGAACACAGTTCGATGGGACTGAAAGTCCATAAGTAGGACTCTGGGGTGTT GACAATGTCCACAATC 377 PASS KCNQ3 CCDS34943.1 r.? - - Complex intronic DI 133290620 133290832 213 36 0 - - 0 1 1 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 11 2 0 0 48 31 59 33 11 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721710623 8 133555155 TTACA T 720 PASS - - - - - Del - D 133555155 133555161 4 48 647.347 - - 1 1 1 - - ./. 0 0 0 0 18 24 18 24 0 0 ./. 5 7 5 9 39 47 39 47 5 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721712580 8 138747164 T TAACAG 778 PASS - - - - - Ins - I 138747164 138747175 5 64 713.094 - - 2 1 1 - - ./. 0 0 0 0 21 12 22 12 0 0 ./. 7 7 7 7 59 53 59 54 7 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721712976 8 139787989 CACAACTT C 261 PASS COL22A1 CCDS6376.1 r.? - - Del intronic D 139787989 139788000 7 28 485.51 - - 1 1 1 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 6 4 7 15 26 15 26 4 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721717119 9 4892539 C CA 1320 PASS - - - - - Ins - I 4892539 4892546 1 119 1176.02 - - 6 1 1 - - ./. 0 0 0 0 23 6 23 6 0 0 ./. 16 6 22 9 58 19 58 19 22 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721718913 9 9361524 C CT 300 PASS PTPRD CCDS43786.1 r.? - - Ins intronic I 9361524 9361534 1 12 258.848 - - 9 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 2 3 40 48 40 49 2 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721719561 9 10927973 TTTCCTAAGGATTGGAGCTATGA T 522 PASS - - - - - Del - D 10927973 10927998 22 99 973.034 - - 1 1 1 - - ./. 0 0 0 0 28 10 28 10 0 0 ./. 8 10 5 9 37 37 40 38 8 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721722447 9 17888312 TC T 480 PASS - - - - - Del - D 17888312 17888316 1 25 432.46 - - 3 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 4 4 4 4 29 31 29 31 4 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721723406 9 20662308 CG C 300 PASS KIAA1797 CCDS34993.1 r.? - - Del intronic D 20662308 20662310 1 6 270.287 - - 1 1 1 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 0 5 2 5 17 25 17 25 2 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721725310 9 27924909 GC G 540 PASS - - - - - Del - D 27924909 27924911 1 28 482.905 - - 1 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 3 6 3 8 27 31 27 31 3 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721735584 9 75678958 TC T 300 PASS ALDH1A1 ENST00000419959 r.? - - Del intronic D 75678958 75678960 1 6 269.083 - - 1 1 1 ALDH1A1|ENST00000419959|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ALDH1A1|ENST00000419959|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 0 7 0 26 18 26 18 7 0 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721736327 9 77774955 T TA 420 PASS - - - - - Ins - I 77774955 77774957 1 18 359.136 - - 1 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 2 5 2 5 29 37 29 37 2 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721736441 9 77992686 TG T 480 PASS - - - - - Del - D 77992686 77992688 1 25 432.46 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 4 4 5 29 28 29 28 4 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721737768 9 82009958 G GA 420 PASS - - - - - Ins - I 82009958 82009968 1 20 371.178 - - 9 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 3 4 3 4 29 42 29 42 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721738670 9 84671767 AC A 300 PASS FAM75B ENST00000376458 r.? - - Del downstream D 84671767 84671774 1 6 269.685 - - 6 1 1 FAM75B|ENST00000376458|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FAM75B|ENST00000376458|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 10 10 10 0 0 ./. 0 5 3 5 15 23 15 23 3 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721742622 9 97004987 ATGTC A 567 PASS - - - - - Del - D 97004987 97004992 4 36 591.622 - - 1 1 1 - - ./. 0 0 0 0 29 33 29 33 0 0 ./. 3 8 3 10 27 31 27 31 3 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721745619 9 106071698 AAT A 360 PASS - - - - - Del - D 106071698 106071713 2 16 324.345 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 3 3 4 33 33 33 33 3 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721746440 9 108694116 ATTTTCCTT A 348 PASS - - - - - Del - D 108694116 108694126 8 48 648.088 - - 1 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 5 7 6 11 29 38 29 38 6 11 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721750682 9 121198725 TTGTG T 658 PASS - - - - - Del - D 121198725 121198731 4 45 648.69 - - 2 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 8 4 10 8 28 23 28 23 10 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721751136 9 122895397 GAAACTCCCATTTTTA G 261 PASS - - - - - Del - D 122895397 122895417 15 28 481.099 - - 1 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 3 6 3 7 16 27 16 27 3 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721752507 9 127588827 TTCATTTGAAATTTTAGTTTC T 406 PASS - - - - - Del - D 127588827 127588850 20 63 753.192 - - 1 1 1 - - ./. 0 0 0 0 15 23 15 23 0 0 ./. 8 6 9 6 36 35 36 35 9 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721753517 9 130584419 CT C 718 PASS ENG CCDS6880.1 r.? - - Del intronic D 130584419 130584427 1 56 702.747 - - 7 1 1 ENG|CCDS6880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENG|CCDS6880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 6 7 12 10 39 28 39 28 12 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721754223 9 132401300 CCT C 360 PASS ASB6 CCDS6924.1 r.? - - Del intronic D 132401300 132401307 2 15 324.345 - - 3 1 1 ASB6|CCDS6924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASB6|CCDS6924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 24 18 24 0 0 ./. 4 2 7 2 26 16 26 16 7 2 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721758303 X 10362291 GCTGATGATCTAAACCC G 290 PASS - - - - - Del - D 10362291 10362312 16 36 543.097 - - 1 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 5 5 5 5 18 19 18 19 5 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721758835 X 14200790 TC T 720 PASS - - - - - Del - D 14200790 14200792 1 48 651.837 - - 1 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 7 5 9 6 15 11 15 11 9 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721758867 X 14654270 G GAAA 420 PASS GLRA2 CCDS48085.1 r.? - - Ins intronic I 14654270 14654277 3 18 367.946 - - 6 1 1 GLRA2|CCDS48085.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GLRA2|CCDS48085.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 2 5 3 19 17 20 17 5 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721761796 X 36150577 GCATTTTCAACAAGCTTC G 348 PASS CXorf59 CCDS14238.1 r.? - - Del intronic D 36150577 36150600 17 48 652.439 - - 1 1 1 CXorf59|CCDS14238.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CXorf59|CCDS14238.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 7 5 7 5 20 10 20 10 7 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721762035 X 38879344 TCCGTAGCTCACAGCTGCTGAACCCAAATCCCTACTTGCCCC T 319 PASS - - - - - Del - D 38879344 38879387 41 36 598.069 - - 1 1 1 - - ./. 0 0 0 0 5 15 5 15 0 0 ./. 8 3 1 2 8 6 15 7 8 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721762667 X 43468533 GT G 360 PASS - - - - - Del - D 43468533 43468539 1 16 323.209 - - 5 1 1 - - ./. 0 0 0 0 8 3 8 3 0 0 ./. 3 3 3 3 14 13 14 13 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721762847 X 44587468 G GA 300 PASS - - - - - Ins - I 44587468 44587478 1 10 265.829 - - 9 1 1 - - ./. 0 0 0 0 9 5 9 6 0 0 ./. 4 1 4 1 23 19 23 24 4 1 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721762918 X 44982102 CCAGTTATTAATCCCTTGT C 319 PASS - - - - - Del - D 44982102 44982124 18 36 598.069 - - 1 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 3 8 3 8 17 18 17 18 3 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721763062 X 45744972 TC T 360 PASS - - - - - Del - D 45744972 45744974 1 16 326.219 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 3 3 3 14 15 14 15 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721764871 X 64059481 CA C 300 PASS - - - - - Del - D 64059481 64059486 1 12 270.645 - - 4 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 2 4 6 23 15 23 15 4 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721766107 X 73739980 TTGA T 327 PASS SLC16A2 CCDS14426.1 r.? - - Del intronic D 73739980 73739996 3 14 380.589 - - 5 1 1 SLC16A2|CCDS14426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC16A2|CCDS14426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 6 1 9 12 29 12 29 1 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721766871 X 79556240 TATCCATTCAT TATG 435 PASS - - - - - Complex - DI 79556241 79556250 10 70 0 - - 0 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 6 9 0 0 13 14 14 14 6 9 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721767024 X 80736479 G GA 360 PASS - - - - - Ins - I 80736479 80736487 1 12 322.005 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 5 1 4 14 14 14 14 1 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721768504 X 89891275 AC A 300 PASS - - - - - Del - D 89891275 89891280 1 12 271.85 - - 4 1 1 - - ./. 0 0 0 0 10 4 10 4 0 0 ./. 2 3 3 3 17 19 17 19 3 3 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721768848 X 92464342 TAA T 600 PASS - - - - - Del - D 92464342 92464349 2 36 543.699 - - 6 1 1 - - ./. 0 0 0 0 3 8 3 8 0 0 ./. 5 5 9 8 19 12 19 12 9 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721769769 X 98546495 GT G 780 PASS - - - - - Del - D 98546495 98546504 1 56 705.605 - - 8 1 1 - - ./. 0 0 0 0 2 9 2 9 0 0 ./. 6 7 8 7 16 17 16 17 8 7 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721772886 X 125885502 GAGAATGAGATGGAGGATAACAATGAAGCAAGCACATGTTTGTTTCTAGGACCTAGAGAATTGTCAGAAATAACAACTACCAAGTAGCTCTAAAAGTCTGGATGTGGGCATGGTTGAAGAAAACAAACACACAAACAAGAAGATTGTTTAACAGTCTGTGTAGGAGTAGTTAGACCTCCAGATGCACTATAAAATGGCAGAGATTAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATCACGAGTGCAAGAGATCGAGACCATGCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGAGTGTGGTGGCATGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAGAAAAAATGGCAAAGATTAAAATGAGGGGATTCTGGACCTGGGGATTACTGCACAATTTAGAATGAGGATTTCACAACTAAAACTAAGATATGATCTGAGAATCTACATGCTGAGTGATAAAATACTCTCAGCTCTTTCTGTCTTTCAATTTCTAGAGCACTGGCAATCAAGATTAAAAATCCCAGGAAAGTGATTGGTGGATACATTTCTACCTGGGAAGATTGGCTAACCTAGAAAAGATAATGCACATGCAGAGATGGTAATCAGCAATTCAACCTCACCCCTGAATATGAAGAAACAACCAAGAATAAGTTTGTGAAAAACTTCTAAAACGAAAAATAGACCAAAATAGACAAAAAGGGAAATTTAGAGGAAACAGAGACAGTACAAGGAGCAAGAGAGAATGTCATCATCATCATCATCATCATCTTCATCATGGTCATCATGATCACATCATAATAAAATAGATCAATAGAATGTTTCGAAGAATAAGTTGATAAAACTACACAGAAAATAGATAAAATATCTAACCTGGAAACAATAGAAGAGTTAACAAAGCAAATCAGTTCAGAAGGTCCTACTCCATCAGAATATATTTTCTGGAAAAGCATGACAATAAATCACAGAGGAGGAAATTATCAATAAAATCATAAAATCGAATGTCTCATAAATGAAGGACTTGAGCTTCCCAAATGAAGAAAACCTACACAATGTCACATTATTGTGAAATTTCAGAGAACTGGGGCAAAAAGAAGATTCTAAAAGCTTCCCTAGAGAAAATAAAACAAACAAACCAAGTGTCATACAAAGGATCAAAAACAACAATGACATTTGATTTATCAACAGGAACACTGGAAGGTAGACGGTATTTGAAAACTACCTTCAAAATTCAAAGAAATAATTGAATAATTGTTTGCAACCTAAAAATTTATATCTAGCTAAAGAATAAAAAAATGAAAGTAAATGCCTTTTCAGACATGAAAAATCTAAAAAAAAAATGCAGGTTCTCTCAAGGAGCTACTTGAATATGTATTCCATGGAATCGAGAGAGAATGCAGATCCAGGAAATAGAGGAATGAGGCAAACACAAGCCTAAAAATGATGCTTAAGAAAATTTCTTATGTCTCAAACTAAAAAGTCAGGACATAATATGTAAAACTAAAAACTAAGAAATAAAAATATAAGTATGTTATTTCAAAGTAACAAAATAAATATCAAAAGAAATAACTAAAAGAGTTGAAAGCAATTAGCCTGGGGAATTGTACTGAGCATTGAGATAGGGTACAGAAGTAGACTACTGCTTTTCTTTCTTTGACTTTTAAAGCAGTGGTCATGTGTTATTCATAAAAATAAAAACTACATAAAAAGAAATATGATGACTTCAAAGGGATTTACTTTTGAATCTCAACACCAACTTATCCCAGTTTTAAGGTAACTATACCATTGGTATGAAGAAGCTAGTCACCTTTTACTAAGATAATATAAACTGTTGCAGAATAATCTAGCAAGGTTTTAAAATATTTTGCTCACTAA G 327 PASS - - - - - Del - D 125885502 125887529 2024 42 598.069 - - 1 1 - - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 6 5 0 0 9 6 15 11 6 5 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721773523 X 132172466 AT A 900 PASS USP26 CCDS14635.1 r.? - - Del intronic D 132172466 132172469 1 66 815.549 - - 2 1 1 USP26|CCDS14635.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 USP26|CCDS14635.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 10 5 11 8 26 30 26 30 11 8 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721776557 X 147375283 TTA T 900 PASS - - - - - Del - D 147375283 147375289 2 66 811.936 - - 2 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 5 10 7 10 30 29 30 29 7 10 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721777694 X 153193679 CCGGTGCCGGGG C 290 PASS ARHGAP4 CCDS14736.1 r.? - - Del upstream D 153193679 153193693 11 35 543.699 - - 1 1 1 ARHGAP4|CCDS14736.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ARHGAP4|ENST00000442262|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 6 4 0 0 27 19 27 22 6 4 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721777695 X 153193680 CGGTGCCGGGGCGCGGCCG CGCACCCT 725 PASS ARHGAP4 CCDS14736.1 r.? - - Complex upstream DI 153193681 153193698 18 176 0 - - 0 1 1 ARHGAP4|CCDS14736.1|r.?|-|-|protein_coding:indel:2KB_upstream_variant|SO:0000010:SO:1000032:SO:0001636 ARHGAP4|ENST00000442262|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 10 15 0 0 26 19 26 22 10 15 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721778169 Y 6642090 GA G 660 PASS - - - - - Del - D 6642090 6642092 1 42 601.648 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 5 7 6 11 11 11 11 7 6 1 1 1 1 1 1 1 1 2662728 PD18008a PD18008b 2721778215 Y 7615601 GA G 420 PASS - - - - - Del - D 7615601 7615610 1 14 384.016 - - 8 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 6 1 6 3 15 10 15 10 6 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710661259 1 1376676 C CGGT 445 PASS VWA1 CCDS27.1 r.2925_2926insggu c.? p.? Ins 3'UTR variant I 1376676 1376677 3 36 505.106 - - 0 1 1 VWA1|CCDS27.1|r.2925_2926insggu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 VWA1|CCDS27.1|r.2925_2926insggu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 28 14 28 14 0 0 ./. 5 5 6 9 20 21 21 22 6 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710665706 1 16509820 GTTCA G 387 PASS - - - - - Del - D 16509820 16509829 4 25 424.073 - - 2 1 - - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 4 4 6 8 16 23 16 23 6 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710669437 1 27109263 TA T 780 PASS ARID1A CCDS285.1 r.? - - Del downstream D 27109263 27109269 1 56 695.892 - - 5 1 1 ARID1A|CCDS285.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PIGV|ENST00000430292|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 7 15 7 26 19 26 19 15 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710673564 1 41141506 AG A 869 PASS - - - - - Del - D 41141506 41141509 1 66 802.211 - - 2 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 10 5 13 8 29 18 29 18 13 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710678172 1 58194265 C CA 660 PASS DAB1 CCDS607.1 r.? - - Ins intronic I 58194265 58194275 1 42 569.705 - - 9 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 18 14 0 0 ./. 6 5 14 10 27 30 28 31 14 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710685367 1 81745038 A AT 300 PASS - - - - - Ins - I 81745038 81745048 1 12 265.798 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 3 2 35 36 36 38 3 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710694975 1 113653382 CT C 720 PASS LRIG2 CCDS30808.1 r.? - - Del intronic D 113653382 113653386 1 49 644.539 - - 3 1 1 LRIG2|CCDS30808.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRIG2|CCDS30808.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 6 6 8 7 21 24 21 24 8 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710702854 1 153819469 A AT 1560 PASS GATAD2B CCDS1054.1 r.? - - Ins intronic I 153819469 153819472 1 132 1380.95 - - 2 1 1 GATAD2B|CCDS1054.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GATAD2B|CCDS1054.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 21 5 30 11 54 23 55 24 30 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710703979 1 156428706 T TG 300 PASS MEF2D CCDS1143.1 r.? - - Ins downstream I 156428706 156428707 1 6 264.594 - - 0 1 1 MEF2D|CCDS1143.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MEF2D|CCDS1143.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 19 14 19 15 0 0 ./. 0 5 0 5 28 36 29 36 0 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710704982 1 159430905 G GT 2040 PASS - - - - - Ins - I 159430905 159430913 1 323 1805.62 - - 7 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 18 16 25 26 50 52 50 52 25 26 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710705379 1 160602011 GAC G 300 PASS SLAMF1 CCDS1207.1 r.? - - Del intronic D 160602011 160602026 2 10 268.809 - - 7 1 1 SLAMF1|CCDS1207.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLAMF1|CCDS1207.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 21 20 21 0 0 ./. 4 1 4 1 33 38 33 38 4 1 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710708515 1 168976192 T TG 1440 PASS - - - - - Ins - I 168976192 168976198 1 160 1274.03 - - 5 1 1 - - ./. 0 0 0 0 11 18 12 18 0 0 ./. 9 15 10 17 40 50 40 51 10 18 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710711195 1 176584613 A AT 989 PASS PAPPA2 CCDS41438.1 r.? - - Ins intronic I 176584613 176584623 1 88 891.071 - - 9 1 1 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 23 18 23 0 0 ./. 10 7 15 15 34 40 35 40 15 15 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710714015 1 184067185 CTCAGGAGGAGCTGAGAGATTGG C 319 PASS - - - - - Del - D 184067185 184067210 22 40 591.379 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 7 4 6 3 28 28 29 29 7 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710714599 1 186094260 A AT 360 PASS HMCN1 CCDS30956.1 r.? - - Ins intronic I 186094260 186094270 1 16 317.754 - - 9 1 1 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 20 13 20 0 0 ./. 3 3 5 1 60 52 61 53 5 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710715091 1 187407938 TCAG T 2069 PASS - - - - - Del - D 187407938 187407944 3 340 1881.66 - - 1 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 16 19 23 24 43 36 43 36 23 24 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710716005 1 189852023 C CT 1380 PASS - - - - - Ins - I 189852023 189852030 1 144 1222.07 - - 6 1 1 - - ./. 0 0 0 0 11 16 12 16 0 0 ./. 8 15 11 21 28 41 30 41 11 21 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710717476 1 193958347 GA G 1800 PASS - - - - - Del - D 193958347 193958356 1 247 1611.05 - - 8 1 1 - - ./. 0 0 0 0 22 10 22 10 0 0 ./. 12 18 24 22 46 47 46 47 24 22 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710722955 1 209212287 AAC A 300 PASS - - - - - Del - D 209212287 209212307 2 12 268.809 - - 9 1 - - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 2 4 36 33 36 33 2 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710727899 1 222428235 T TG 1465 PASS - - - - - Ins - I 222428235 222428244 1 210 1416.04 - - 8 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 13 14 20 21 33 35 33 36 20 21 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710730741 1 230575810 TTCTTTC T 300 PASS - - - - - Del - D 230575810 230575820 6 12 268.809 - - 1 1 - - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 1 0 20 27 20 27 3 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710730862 1 230969971 GAT G 269 PASS C1orf198 CCDS1587.1 r.? - - Del downstream D 230969971 230969988 2 6 268.809 - - 8 1 1 C1orf198|CCDS1587.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C1orf198|CCDS1587.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 15 8 15 0 0 ./. 0 5 0 7 30 45 30 45 0 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710734619 1 240327529 TTTTTTGTTTTTTGGTACTTTCACCTATTTCCTGACAAATTAAGCAACCTTAAGACCTGTTTCCAGACAAATTAAGCAACCTTGAGATTCCCTAACTTAATAAA T 348 PASS FMN2 CCDS31069.2 r.? - - Del intronic D 240327529 240327636 103 48 643.936 - - 1 1 1 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 7 0 0 26 19 31 26 5 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710758750 10 73771096 C CT 600 PASS CHST3 CCDS7312.1 r.4744_4745insu c.? p.? Ins 3'UTR variant I 73771096 73771098 1 35 533.714 - - 1 1 1 CHST3|CCDS7312.1|r.4744_4745insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 CHST3|CCDS7312.1|r.4744_4745insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 6 7 7 20 17 20 17 7 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710759323 10 75093382 A AC 269 PASS TTC18 CCDS7324.2 r.? - - Ins intronic I 75093382 75093386 1 6 239.764 - - 3 1 1 TTC18|CCDS7324.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC18|CCDS7324.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 26 14 26 0 0 ./. 0 5 0 4 30 28 30 29 0 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710759767 10 76299454 G GA 300 PASS ADK CCDS7344.1 r.? - - Ins intronic I 76299454 76299464 1 10 262.041 - - 9 1 1 ADK|CCDS7344.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADK|CCDS7344.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 1 4 1 37 28 38 28 4 1 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710764145 10 92856028 GTAATTTATAAAGG GTTTAGTTTAAT 348 PASS - - - - - Complex - DI 92856029 92856041 13 48 0 - - 0 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 5 7 0 0 18 28 19 28 5 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710777165 10 135491035 AG A 377 PASS - - - - - Del - D 135491035 135491039 1 56 693.829 - - 3 1 1 - - ./. 0 0 0 0 110 101 110 101 0 0 ./. 7 6 8 6 154 135 154 135 8 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710778152 11 3175044 ACGGGTGGG A 377 PASS OSBPL5 CCDS31344.1 r.? - - Del intronic D 3175044 3175053 8 26 687.282 - - 1 1 1 OSBPL5|CCDS31344.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 OSBPL5|CCDS31344.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 1 12 4 13 9 26 9 26 4 13 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710786955 11 30346098 T TG 720 PASS C11orf46 CCDS7869.1 r.? - - Ins intronic I 30346098 30346107 1 33 640.434 - - 8 1 1 C11orf46|CCDS7869.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C11orf46|CCDS7869.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 10 2 12 3 26 14 26 14 12 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710787159 11 31209546 A AT 540 PASS ENSG00000226746 ENST00000399333 r.? - - Ins intronic I 31209546 31209555 1 30 469.79 - - 8 1 1 ENSG00000226746|ENST00000399333|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000226746|ENST00000399333|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 10 8 0 0 ./. 4 5 5 7 23 29 23 29 5 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710792889 11 49364222 G GT 397 PASS - - - - - Ins - I 49364222 49364232 1 21 427.157 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 6 3 11 19 29 20 30 3 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710793133 11 49958431 TC T 1080 PASS - - - - - Del - D 49958431 49958435 1 100 968.478 - - 3 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 9 9 12 10 22 26 22 26 12 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710793389 11 50682450 T TC 480 PASS - - - - - Ins - I 50682450 50682456 1 24 426.555 - - 5 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 5 5 7 10 18 10 18 5 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710793839 11 55358177 G GT 780 PASS - - - - - Ins - I 55358177 55358186 1 36 695.108 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 11 8 13 25 36 25 36 8 13 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710801238 11 79737304 GC G 1380 PASS - - - - - Del - D 79737304 79737307 1 156 1243.05 - - 2 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 11 12 13 16 31 30 31 30 13 16 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710804864 11 91598422 A AC 360 PASS - - - - - Ins - I 91598422 91598423 1 12 311.788 - - 0 1 - - - ./. 0 0 0 0 14 11 14 12 0 0 ./. 1 5 2 11 25 23 26 23 2 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710807431 11 99771050 A AT 749 PASS CNTN5 ENST00000279463 r.? - - Ins intronic I 99771050 99771057 1 50 692.098 - - 6 1 1 CNTN5|ENST00000279463|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTN5|ENST00000279463|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 9 9 12 22 26 23 26 9 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710812154 11 115159028 CCAGAAGTCCAGGAGAAAAAATTACATTTTA C 406 PASS CADM1 CCDS8373.1 r.? - - Del intronic D 115159028 115159062 30 64 757.007 - - 1 1 1 CADM1|CCDS8373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADM1|CCDS8373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 7 7 6 6 30 26 31 27 7 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710812968 11 117947547 A AG 300 PASS TMPRSS4 CCDS31684.1 r.? - - Ins upstream I 117947547 117947555 1 12 265.543 - - 7 1 1 TMPRSS4|CCDS31684.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 TMPRSS4|CCDS31684.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 2 4 5 13 16 13 17 4 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710813544 11 119526755 TCAC T 569 PASS PVRL1 CCDS8426.1 r.? - - Del downstream D 119526755 119526762 3 35 539.515 - - 2 1 1 PVRL1|CCDS8426.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PVRL1|CCDS8425.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 4 6 7 18 14 18 14 6 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710816053 11 127342016 CCTGT C 327 PASS - - - - - Del - D 127342016 127342026 4 20 374.289 - - 2 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 3 5 5 16 23 16 23 5 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710817759 11 134061472 C CT 1200 PASS NCAPD3 CCDS31723.1 r.? - - Ins intronic I 134061472 134061479 1 117 1063.38 - - 6 1 1 NCAPD3|CCDS31723.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NCAPD3|CCDS31723.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 12 8 13 14 28 34 28 34 13 14 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710822787 12 12863648 A AT 716 PASS - - - - - Ins - I 12863648 12863656 1 55 748.885 - - 7 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 4 10 7 10 20 24 20 24 7 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710823080 12 13761442 CA C 840 PASS GRIN2B CCDS8662.1 r.? - - Del intronic D 13761442 13761448 1 63 756.11 - - 5 1 1 GRIN2B|CCDS8662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIN2B|CCDS8662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 8 6 11 8 23 26 23 26 11 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710827667 12 27886343 C CT 838 PASS MRPS35 CCDS8714.1 r.? - - Ins intronic I 27886343 27886351 1 72 798.765 - - 7 1 1 MRPS35|CCDS8714.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MRPS35|CCDS8714.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 7 8 11 11 25 28 26 28 11 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710830049 12 34162126 TTTTA T 656 PASS - - - - - Del - D 34162126 34162135 4 54 702.618 - - 2 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 5 8 9 12 19 29 19 29 9 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710831206 12 40818564 CA C 300 PASS MUC19 ENST00000425730 r.? - - Del intronic D 40818564 40818574 1 12 267.459 - - 9 1 1 MUC19|ENST00000425730|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MUC19|ENST00000425730|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 19 5 19 0 0 ./. 3 2 3 2 29 20 29 20 3 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710832824 12 47119409 CA C 360 PASS - - - - - Del - D 47119409 47119413 1 15 324.563 - - 3 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 2 5 4 15 27 15 27 5 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710833042 12 47752652 TAC T 625 PASS - - - - - Del - D 47752652 47752656 2 56 702.618 - - 1 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 6 7 13 9 23 18 23 18 13 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710833577 12 49637948 AG A 300 PASS - - - - - Del - D 49637948 49637950 1 6 259.632 - - 1 1 - - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 0 8 0 37 19 37 19 8 0 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710837202 12 61833310 TC T 780 PASS - - - - - Del - D 61833310 61833312 1 54 703.22 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 8 5 10 11 27 26 27 26 10 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710842451 12 80587299 GTAA G 300 PASS - - - - - Del - D 80587299 80587324 3 12 270.469 - - 8 1 - - - ./. 0 0 0 0 3 11 3 11 0 0 ./. 2 3 3 3 19 21 19 21 3 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710854896 12 122698636 AC A 540 PASS DIABLO CCDS9228.1 r.? - - Del intronic D 122698636 122698638 1 28 486.243 - - 1 1 - DIABLO|CCDS9228.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIABLO|CCDS9228.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 6 8 9 19 23 19 23 8 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710855527 12 124180507 CA C 569 PASS TCTN2 CCDS9253.1 r.? - - Del intronic D 124180507 124180509 1 36 536.122 - - 1 1 1 TCTN2|CCDS9253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCTN2|CCDS9253.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 4 16 4 0 0 ./. 5 5 8 5 21 12 21 12 8 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710856462 12 127064165 TA T 720 PASS - - - - - Del - D 127064165 127064172 1 40 649.126 - - 6 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 9 7 10 17 23 17 23 7 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710856986 12 128279891 C CTATTA 360 PASS - - - - - Ins - I 128279891 128279912 5 16 306.501 - - 4 1 - - - ./. 0 0 0 0 3 10 3 10 0 0 ./. 3 3 4 3 14 24 14 25 4 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710864778 13 34740489 T TTA 300 PASS - - - - - Ins - I 34740489 34740505 2 12 265.016 - - 7 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 2 3 2 7 17 23 17 23 2 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710865045 13 35758324 AGATAT A 687 PASS NBEA CCDS45026.1 r.? - - Del intronic D 35758324 35758336 5 56 704.695 - - 2 1 1 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 7 6 8 10 23 23 23 23 8 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710870175 13 51101360 T TC 269 PASS - - - - - Ins - I 51101360 51101370 1 10 262.608 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 1 5 2 17 13 17 13 5 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710870352 13 51740479 C CA 358 PASS - - - - - Ins - I 51740479 51740487 1 72 801.671 - - 7 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 8 7 12 8 29 27 29 28 12 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710871862 13 56934750 T TA 1140 PASS - - - - - Ins - I 56934750 56934758 1 54 1018.5 - - 7 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 17 4 22 19 33 19 33 4 22 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710873489 13 61888996 A AT 926 PASS - - - - - Ins - I 61888996 61889005 1 77 857.082 - - 8 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 6 10 8 12 16 31 16 32 8 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710874237 13 63800272 A AT 720 PASS - - - - - Ins - I 63800272 63800282 1 40 642.059 - - 9 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 9 3 11 5 37 28 37 28 11 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710874730 13 65680195 A AT 720 PASS - - - - - Ins - I 65680195 65680205 1 48 637.243 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 17 0 0 ./. 7 5 9 7 27 26 27 26 9 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710875515 13 68424720 C CA 660 PASS - - - - - Ins - I 68424720 68424728 1 42 588.454 - - 7 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 6 5 9 9 18 25 18 27 9 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710881727 13 89095438 AG A 420 PASS - - - - - Del - D 89095438 89095440 1 18 379.451 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 2 6 6 21 14 21 14 6 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710881964 13 89940590 G GT 1020 PASS - - - - - Ins - I 89940590 89940597 1 90 911.289 - - 6 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 8 9 9 10 19 30 19 31 9 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710891267 14 22564472 AT A 900 PASS TRAC ENST00000446346 r.? - - Del intronic D 22564472 22564475 1 70 813.374 - - 2 1 1 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 9 6 10 10 31 25 31 25 10 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710892387 14 25906233 CA C 600 PASS - - - - - Del - D 25906233 25906243 1 36 542.651 - - 9 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 5 5 8 5 27 22 27 22 8 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710894953 14 34151605 TA T 1080 PASS NPAS3 CCDS9645.1 r.? - - Del intronic D 34151605 34151609 1 84 976.771 - - 3 1 1 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 13 5 16 8 28 29 28 29 16 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710897015 14 39778266 C CT 780 PASS CTAGE5 CCDS9674.1 r.? - - Ins intronic I 39778266 39778268 1 44 697.619 - - 1 1 1 CTAGE5|CCDS9674.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTAGE5|CCDS9674.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 10 3 12 9 23 23 24 23 12 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710906247 14 69145998 ACAAACAAAAAACCCC A 290 PASS RAD51L1 ENST00000488612 r.? - - Del intronic D 69145998 69146014 15 35 542.049 - - 1 1 - RAD51L1|ENST00000488612|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 RAD51L1|ENST00000488612|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 6 3 5 23 31 23 31 4 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710909410 14 78578144 CT C 449 PASS - - - - - Del - D 78578144 78578154 1 24 432.917 - - 9 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 5 4 9 17 26 17 26 4 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710909941 14 80852710 CA C 1020 PASS AC010849.1 ENST00000504475 r.? - - Del intronic D 80852710 80852712 1 88 916.486 - - 1 1 1 AC010849.1|ENST00000504475|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC010849.1|ENST00000504475|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 10 7 15 9 33 23 33 23 15 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710910024 14 81256071 AATG A 1167 PASS C14orf145 CCDS32130.1 r.? - - Del intronic D 81256071 81256077 3 126 1138.36 - - 1 1 1 C14orf145|CCDS32130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C14orf145|CCDS32130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 8 13 8 14 21 31 21 31 8 14 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710910167 14 81629193 T TA 269 PASS - - - - - Ins - I 81629193 81629201 1 10 268.315 - - 7 1 1 - - ./. 0 0 0 0 11 8 12 9 0 0 ./. 1 4 2 5 21 23 21 23 2 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710912642 14 89770437 C CA 900 PASS FOXN3 CCDS32138.1 r.? - - Ins intronic I 89770437 89770439 1 72 804.945 - - 1 1 1 FOXN3|CCDS32138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FOXN3|CCDS32138.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 20 16 0 0 ./. 8 7 11 7 27 23 28 23 11 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710912924 14 90534786 G GA 569 PASS KCNK13 CCDS9889.1 r.? - - Ins intronic I 90534786 90534793 1 35 522.783 - - 6 1 1 KCNK13|CCDS9889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNK13|CCDS9889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 23 12 23 0 0 ./. 6 4 9 9 24 27 26 27 9 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710918217 15 20117552 AG A 632 PASS - - - - - Del - D 20117552 20117555 1 54 705.24 - - 2 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 5 8 8 11 27 25 27 25 8 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710920701 15 26602891 AT A 1140 PASS - - - - - Del - D 26602891 26602900 1 110 1031.61 - - 8 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 9 10 12 13 32 35 32 35 12 13 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710922394 15 33165066 G GAC 1020 PASS FMN1 CCDS45209.1 r.? - - Ins intronic I 33165066 33165068 2 88 898.942 - - 0 1 1 FMN1|CCDS45209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMN1|CCDS45209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 23 15 23 0 0 ./. 7 10 11 13 25 26 25 26 11 13 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710926675 15 46586963 ATATCT A 987 PASS - - - - - Del - D 46586963 46586977 5 96 977.319 - - 2 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 11 7 13 9 20 25 20 25 13 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710930107 15 57516096 A AT 1016 PASS TCF12 CCDS10159.1 r.? - - Ins intronic I 57516096 57516103 1 104 1020.18 - - 6 1 1 TCF12|CCDS10159.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TCF12|CCDS10159.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 7 17 8 0 0 ./. 12 7 17 11 27 19 28 19 17 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710933343 15 67211827 AG A 660 PASS - - - - - Del - D 67211827 67211829 1 42 579.791 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 6 5 10 8 26 20 26 20 10 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710940027 15 90163945 T TTTTG 389 PASS C15orf42 CCDS10352.2 r.? - - Ins intronic I 90163945 90163969 4 14 363.211 - - 5 1 - C15orf42|CCDS10352.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C15orf42|CCDS10352.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 22 18 22 0 0 ./. 1 6 3 7 26 26 26 26 3 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710940525 15 91390699 GA G 660 PASS - - - - - Del - D 91390699 91390708 1 42 596.649 - - 8 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 6 8 10 23 30 23 30 8 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710943002 15 99231584 A ACC 269 PASS IGF1R CCDS10378.1 r.? - - Ins intronic I 99231584 99231586 2 6 251.61 - - 1 1 1 IGF1R|CCDS10378.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IGF1R|CCDS10378.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 0 5 1 5 26 20 27 20 1 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710948078 16 11509362 A AGAG 476 PASS - - - - - Ins - I 11509362 11509368 3 36 490.265 - - 1 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 5 5 6 7 17 23 17 24 6 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710948159 16 11698990 CCT C 329 PASS - - - - - Del - D 11698990 11699010 2 15 324.021 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 4 2 4 18 14 18 14 2 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710960686 16 57913628 GT G 538 PASS CNGB1 CCDS42169.1 r.? - - Del downstream D 57913628 57913638 1 35 541.44 - - 9 1 1 CNGB1|CCDS42169.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CNGB1|CCDS42169.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 6 5 8 15 23 15 23 5 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710961164 16 59018146 G GA 300 PASS AC106793.1 ENST00000500117 r.? - - Ins intronic I 59018146 59018156 1 12 268.011 - - 9 1 1 AC106793.1|ENST00000500117|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC106793.1|ENST00000500117|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 13 15 0 0 ./. 2 3 4 4 31 25 31 25 4 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710968134 16 81410489 TC T 360 PASS GAN CCDS10935.1 r.? - - Del intronic D 81410489 81410492 1 15 323.419 - - 2 1 1 GAN|CCDS10935.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAN|CCDS10935.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 3 13 3 0 0 ./. 4 2 6 3 17 16 17 16 6 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710972127 17 3198253 G GT 540 PASS OR3A1 CCDS11023.1 r.? - - Ins upstream I 3198253 3198262 1 30 482.218 - - 8 1 1 OR3A1|CCDS11023.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 OR3A1|CCDS11023.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 12 14 12 0 0 ./. 5 4 5 6 27 22 28 22 5 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710976271 17 14160141 C CT 360 PASS - - - - - Ins - I 14160141 14160151 1 12 315.258 - - 9 1 1 - - ./. 0 0 0 0 23 20 23 21 0 0 ./. 1 5 3 8 30 27 30 27 3 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2710985995 17 46840191 GA G 1200 PASS TTLL6 CCDS45724.1 r.2855delU c.? p.? Del 3'UTR variant D 46840191 46840194 1 112 1082.57 - - 2 1 1 TTLL6|CCDS45724.1|r.2855delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TTLL6|CCDS45724.1|r.2855delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 25 17 25 0 0 ./. 13 7 16 9 24 19 24 19 16 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711003583 18 20572190 G GTTTC 420 PASS RBBP8 CCDS11875.1 r.? - - Ins intronic I 20572190 20572197 4 20 363.109 - - 1 1 1 RBBP8|CCDS11875.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBBP8|CCDS11875.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 14 10 0 0 ./. 4 3 6 4 28 17 28 17 6 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711007109 18 32766442 ACAT A 838 PASS - - - - - Del - D 32766442 32766449 3 70 811.807 - - 2 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 9 8 13 22 31 22 31 8 13 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711008827 18 38787760 G GC 840 PASS - - - - - Ins - I 38787760 38787761 1 39 750.301 - - 0 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 12 2 15 6 29 23 29 23 15 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711012504 18 51098925 C CT 300 PASS - - - - - Ins - I 51098925 51098933 1 10 268.395 - - 7 1 1 - - ./. 0 0 0 0 17 28 17 28 0 0 ./. 4 1 5 1 36 31 37 31 5 1 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711014494 18 57413560 CTTTGTATAT C 348 PASS - - - - - Del - D 57413560 57413574 9 49 648.362 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 6 6 8 23 24 23 24 6 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711018621 18 69551103 CACTATGTCAAAAGGCACAAAA C 609 PASS - - - - - Del - D 69551103 69551125 21 130 1139.3 - - 1 1 1 - - ./. 0 0 0 0 22 11 22 11 0 0 ./. 9 12 7 9 23 21 25 24 9 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711038019 19 49991972 G GT 1020 PASS SNORD32A CCDS12768.1 r.? - - Ins intronic I 49991972 49991979 1 88 913.346 - - 6 1 1 SNORD32A|CCDS12768.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNORD32A|CCDS12768.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 16 22 16 0 0 ./. 7 10 11 13 32 24 32 24 11 13 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711042414 2 2378279 TAGTTCTTTTAATTGTGATGGTAAGGTTTCGATTTTAGATCTTTCCTGCTTTCTCTTGTGGACATTTAGTACTATAAATTTCTCTCTAAACACTGCTTTAGCTGTGTCCCAGAGATTCTGGTATGTTGTGTCTTTGTTCTCATTGGTTTCAAAGAACTTATTTATTTCTGCCTTAATTTCATTATTTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGTGCAGTTTTGAGTGAGTTTCTTAATCCTGAGTTCTAATTTGATTGTACTGTGGTCTGAGAGACTGTTATGATTTCCATTCTTTTACATTTGCTGAGGAGTGTTTTACCTCCAATTATGTGGTCAATTTTAGAATAAGTGTGATGTGGTCCTGAGAAAAATGTATATTCTGTTGACATGGGGTAAAGAGTTCTGTAGATGTCTATTAGGTCTCCTTGGTCCAGAGCTG T 551 PASS - - - - - Del - D 2378279 2378744 459 104 1021.28 - - 1 1 1 - - ./. 0 0 0 0 15 25 15 25 0 0 ./. 7 12 0 0 21 25 28 37 7 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711046259 2 14002893 GAAAGC G 869 PASS - - - - - Del - D 14002893 14002901 5 70 800.855 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 9 8 9 30 27 30 27 8 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711047131 2 16416788 CCTT C 586 PASS - - - - - Del - D 16416788 16416797 3 60 747.705 - - 2 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 9 5 13 5 28 21 28 22 13 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711055882 2 41338121 TG T 360 PASS - - - - - Del - D 41338121 41338130 1 15 322.509 - - 8 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 2 6 3 32 32 32 32 6 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711061278 2 57508256 CA C 360 PASS - - - - - Del - D 57508256 57508265 1 15 322.509 - - 8 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 4 3 5 26 20 26 20 3 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711066182 2 72044574 ACT A 780 PASS - - - - - Del - D 72044574 72044578 2 54 698.77 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 8 5 9 7 32 17 32 17 9 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711067368 2 76442164 TAC T 360 PASS - - - - - Del - D 76442164 76442183 2 15 320.703 - - 9 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 2 5 4 28 34 28 34 5 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711069014 2 81487367 T TA 600 PASS - - - - - Ins - I 81487367 81487376 1 36 531.495 - - 8 1 1 - - ./. 0 0 0 0 5 21 7 21 0 0 ./. 5 5 7 11 29 41 29 41 7 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711069619 2 83151354 GA G 1260 PASS - - - - - Del - D 83151354 83151364 1 126 1126.37 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 13 8 21 12 36 28 36 28 21 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711076002 2 104342218 TA T 660 PASS - - - - - Del - D 104342218 104342220 1 42 591.267 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 6 7 9 42 50 42 50 7 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711082198 2 123627862 GTC G 360 PASS - - - - - Del - D 123627862 123627880 2 16 322.509 - - 8 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 3 3 3 43 28 43 28 3 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711082761 2 125239005 AGTTT A 1287 PASS CNTNAP5 CCDS46401.1 r.? - - Del intronic D 125239005 125239010 4 156 1236.29 - - 1 1 1 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 11 12 13 12 30 39 31 39 14 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711083815 2 128368505 A AC 360 PASS MYO7B CCDS46405.1 r.? - - Ins intronic I 128368505 128368514 1 16 300.835 - - 8 1 1 MYO7B|CCDS46405.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYO7B|CCDS46405.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 14 0 0 ./. 3 3 6 4 31 40 31 40 6 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711084098 2 129112485 AT A 1560 PASS - - - - - Del - D 129112485 129112491 1 195 1395.13 - - 5 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 14 12 16 16 27 37 27 37 16 16 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711086138 2 133617672 TA T 1140 PASS NCKAP5 CCDS46418.1 r.? - - Del intronic D 133617672 133617676 1 108 1021.28 - - 3 1 1 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 8 11 18 16 44 36 44 36 18 16 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711092947 2 153569198 G GA 300 PASS PRPF40A CCDS46430.1 r.? - - Ins intronic I 153569198 153569208 1 12 265.145 - - 9 1 1 PRPF40A|CCDS46430.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRPF40A|CCDS46430.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 2 5 2 35 36 36 36 5 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711095476 2 161124209 TAAAAC T 1138 PASS RBMS1 CCDS2213.1 r.? - - Del downstream D 161124209 161124224 5 117 1075.03 - - 2 1 - RBMS1|CCDS2213.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RBMS1|CCDS2213.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 23 15 23 15 0 0 ./. 12 8 18 11 45 37 45 37 18 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711096246 2 163630262 C CA 1620 PASS KCNH7 CCDS2219.1 r.? - - Ins intronic I 163630262 163630269 1 204 1433.23 - - 6 1 1 KCNH7|CCDS2219.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH7|CCDS2219.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 11 16 18 18 40 41 41 42 18 18 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711100361 2 175071116 C CA 900 PASS OLA1 CCDS2255.1 r.? - - Ins intronic I 175071116 175071126 1 66 792.426 - - 9 1 1 OLA1|CCDS2255.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OLA1|CCDS2255.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 17 17 0 0 ./. 10 5 14 10 39 39 39 39 14 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711107144 2 195685141 G GA 1140 PASS - - - - - Ins - I 195685141 195685149 1 108 1004.42 - - 7 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 8 11 15 17 42 38 42 39 15 17 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711107405 2 196451207 A ATATTTAG 493 PASS SLC39A10 ENST00000458054 r.? - - Ins intronic I 196451207 196451216 7 88 840.325 - - 1 1 1 SLC39A10|ENST00000458054|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SLC39A10|ENST00000458054|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 7 10 7 9 27 32 27 34 7 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711111661 2 208196173 G GA 780 PASS - - - - - Ins - I 208196173 208196182 1 56 668.065 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 7 12 10 30 43 30 44 12 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711117108 2 223070335 TAATA T 449 PASS PAX3 CCDS42826.1 r.? - - Del intronic D 223070335 223070345 4 24 423.39 - - 2 1 1 PAX3|CCDS42826.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAX3|CCDS42826.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 3 5 4 40 33 40 33 5 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711125785 20 4339851 TTTCCCCAGCTGC T 348 PASS - - - - - Del - D 4339851 4339864 12 40 652.828 - - 1 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 9 3 9 4 22 14 22 14 9 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711128950 20 14994579 AT A 660 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 14994579 14994583 1 40 596.017 - - 3 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 7 4 8 5 28 24 28 24 8 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711136889 20 41392103 TA T 480 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 41392103 41392113 1 21 433.412 - - 9 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 9 3 9 0 0 ./. 6 2 8 4 22 19 22 19 8 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711138742 20 47533185 CCT C 300 PASS - - - - - Del - D 47533185 47533200 2 12 272.012 - - 7 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 2 3 27 23 27 23 2 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711142632 20 59439999 GA G 660 PASS - - - - - Del - D 59439999 59440008 1 42 597.823 - - 8 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 6 5 7 8 25 21 25 21 7 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711145535 21 10616698 CA C 610 PASS - - - - - Del - D 10616698 10616702 1 56 677.795 - - 3 1 1 - - ./. 0 0 0 0 37 45 37 45 0 0 ./. 6 7 12 10 78 66 78 66 12 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711147297 21 14361006 AAAGT A 809 PASS - - - - - Del - D 14361006 14361011 4 60 760.499 - - 1 1 1 - - ./. 0 0 0 0 45 54 45 59 0 0 ./. 5 9 6 13 84 117 84 125 6 13 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711149198 21 20140975 G GAATTACTTAAACAACAATTTGTTTAAGTAACTTAAACAATTTGTA 319 PASS - - - - - Ins - I 20140975 20140977 45 42 297.451 - - 0 1 1 - - ./. 0 0 0 0 4 5 5 5 0 0 ./. 5 6 0 0 17 13 25 20 5 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711149418 21 20677182 A AT 720 PASS - - - - - Ins - I 20677182 20677192 1 40 645.664 - - 9 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 9 3 13 7 31 27 31 27 13 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711150048 21 22139793 C CT 480 PASS - - - - - Ins - I 22139793 22139803 1 21 429.238 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 2 9 3 30 21 32 23 9 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711150496 21 23169487 C CT 720 PASS - - - - - Ins - I 23169487 23169497 1 48 629.408 - - 9 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 5 7 8 10 19 22 19 22 8 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711155204 21 36000637 AT A 540 PASS - - - - - Del - D 36000637 36000641 1 30 489.064 - - 3 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 5 7 9 14 25 14 25 7 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711157187 21 41753754 T TA 300 PASS DSCAM CCDS42929.1 r.? - - Ins intronic I 41753754 41753762 1 12 269.027 - - 7 1 1 DSCAM|CCDS42929.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DSCAM|CCDS42929.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 2 3 3 28 27 28 27 3 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711158558 21 45746461 CCACGGATACCGAGATGTTCAGACAGAGGGGCATGCACAGGCTGCAGGGTCGGGGGGGGTGGGGGGGCTGGGGACGTGGCTGAAGAGCTGCCCTGACCCCTGACTCCCCATCATCCTCCCATCCCCGTCCTGCACAGGCACCGCATGCCACGGGAGCAGTGGTGGCTGAGCCTGCGGCTCATGCTGAAGATGCTGG C 261 PASS PFKL CCDS33582.1 r.2251-136_2309del195 c.2196-136_2254del195 p.? Del ess splice D 45746461 45746660 195 28 488.462 - - 1 1 1 PFKL|CCDS33582.1|r.2251-136_2309del195|c.2196-136_2254del195|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 PFKL|CCDS33582.1|r.2251-136_2309del195|c.2196-136_2254del195|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 6 0 0 8 6 11 12 3 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711160249 22 17969179 T TG 600 PASS CECR2 ENST00000400579 r.? - - Ins intronic I 17969179 17969180 1 36 539.173 - - 0 1 - CECR2|ENST00000400579|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CECR2|ENST00000400579|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 5 5 8 8 21 19 21 19 8 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711162322 22 24550505 CCCTTGTCCTCACACAG C 348 PASS CABIN1 CCDS13823.1 r.? - - Del intronic D 24550505 24550527 16 48 654.473 - - 1 1 1 CABIN1|CCDS13823.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CABIN1|CCDS13823.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 21 10 21 0 0 ./. 5 7 6 7 20 17 20 17 6 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711171878 3 2663911 AGAATAACTTCCAGATGAAAGTCCAGCTGAAAACATAGTCTCCTTTGGACAAGAATATAAAGACTTCAGTCTGCCAGAGTAGCATTACTAGACACCTGGCTGCAGGAAATGTGATGTTACTTTTTTGACATCTCTGCTCACTGCAACTTCTGCCACCCGGGTTCCAGTGATTCTCGTGCCTCAACTCCCCAAGCAGTTGGGATTACAAGTGTGTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGCCCACCTCGGCCTCCCAGAGCTTGCTGGGATTACAGGTGTGAGCCACCACGCTCAGCTGGACAAGCAAGTTTTGAAGCAGAGGAGTTGTCTGCAAAATCTGGAATATGGGGGCAGTTATGGAGAAATAATAATTAGTACTGTTCATTGAATGTTTTAATGTTTGCCAGACCTTTTGAGTTCTTCATATACATTATCTTAGCCTACCTAAAGCAACCATGTAAGGATGTGTGTTAATATATCCATTTACAGATGAAGTAATGGAAACTCAGATAAGTAGATATTTCATGCAAGATCACGCAGCTGGTGTGGAAAAGCTGAGATCTGAGACTGGTGCACTCTGACTCAAAAGCCAGCACTCTTAGGGATTAGATTTCCTTGTGTG A 290 PASS CNTN4 CCDS43041.1 r.? - - Del intronic D 2663911 2664585 673 35 539.381 - - 1 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 6 0 0 13 16 17 22 4 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711174730 3 11229846 A AT 600 PASS HRH1 CCDS2604.1 r.? - - Ins intronic I 11229846 11229855 1 35 532.758 - - 8 1 1 HRH1|CCDS2604.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 HRH1|CCDS2604.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 6 4 12 6 30 27 30 27 12 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711176410 3 16631752 T TCAACTTTAAGTATGTTTACTTAAACATACTTAACATACTTAAA 290 PASS DAZL CCDS43059.1 r.? - - Ins intronic I 16631752 16631773 43 27 279.893 - - 0 1 1 DAZL|CCDS43059.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DAZL|CCDS43059.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 8 2 0 0 12 11 20 13 8 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711178216 3 23213357 GA G 749 PASS - - - - - Del - D 23213357 23213367 1 36 687.348 - - 9 1 1 - - ./. 0 0 0 0 16 4 16 4 0 0 ./. 11 2 15 4 28 18 28 18 15 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711180668 3 31975828 T TG 1020 PASS OSBPL10 CCDS2651.1 r.? - - Ins intronic I 31975828 31975833 1 78 892.263 - - 4 1 1 OSBPL10|CCDS2651.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OSBPL10|CCDS2651.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 5 12 9 18 23 36 24 36 9 18 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711181075 3 33188646 A AC 720 PASS SUSD5 CCDS46787.1 r.? - - Ins downstream I 33188646 33188647 1 48 637.624 - - 0 1 1 SUSD5|CCDS46787.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SUSD5|CCDS46787.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 11 11 12 0 0 ./. 5 7 8 9 21 28 21 28 8 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711181838 3 35641163 GGGCTAT G 464 PASS - - - - - Del - D 35641163 35641172 6 65 862.408 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 12 7 12 21 20 21 20 7 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711185692 3 50029744 G GA 660 PASS RBM6 CCDS2809.1 r.? - - Ins intronic I 50029744 50029753 1 40 586.094 - - 8 1 1 RBM6|CCDS2809.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBM6|CCDS2809.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 8 17 9 0 0 ./. 7 4 13 6 34 17 35 17 13 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711191366 3 69854817 TC T 360 PASS MITF CCDS43106.1 r.? - - Del intronic D 69854817 69854819 1 16 323.027 - - 1 1 1 MITF|CCDS43106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MITF|CCDS43106.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 3 3 3 19 36 19 36 3 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711194612 3 76967771 G GT 540 PASS ROBO2 ENST00000487694 r.? - - Ins intronic I 76967771 76967779 1 30 480.024 - - 7 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 5 8 5 21 22 22 23 8 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711196104 3 82008036 TTG T 300 PASS - - - - - Del - D 82008036 82008054 2 10 267.282 - - 8 1 - - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 1 4 1 32 23 32 23 4 1 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711196234 3 82549176 TTTTAGAC T 261 PASS - - - - - Del - D 82549176 82549184 7 30 485.443 - - 1 1 1 - - ./. 0 0 0 0 23 18 23 18 0 0 ./. 4 5 5 5 17 18 17 18 5 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711199185 3 95940098 A AT 540 PASS - - - - - Ins - I 95940098 95940106 1 30 479.422 - - 7 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 4 8 6 24 20 24 20 8 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711199349 3 96586165 ATAT A 929 PASS EPHA6 CCDS46876.1 r.? - - Del intronic D 96586165 96586172 3 81 863.01 - - 2 1 1 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 8 8 12 8 23 20 23 20 12 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711200041 3 99294751 A ATCATCTC 406 PASS - - - - - Ins - I 99294751 99294760 7 64 696.131 - - 1 1 1 - - ./. 0 0 0 0 10 23 10 23 0 0 ./. 7 7 9 7 25 24 25 24 9 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711200308 3 100427565 TCGTC T 658 PASS TFG CCDS2939.1 r.? - - Del upstream D 100427565 100427570 4 48 645.451 - - 1 1 1 TFG|CCDS2939.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TFG|CCDS2939.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 7 5 8 26 26 26 26 5 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711201582 3 104382226 A AT 720 PASS - - - - - Ins - I 104382226 104382232 1 40 640.032 - - 5 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 9 3 13 5 31 26 31 27 13 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711208794 3 128361550 AAGAAT A 449 PASS RPN1 CCDS3051.1 r.? - - Del intronic D 128361550 128361559 5 25 423.076 - - 1 1 1 RPN1|CCDS3051.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPN1|CCDS3051.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 23 13 23 0 0 ./. 4 4 4 8 12 25 12 25 4 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711209947 3 132573079 A AT 360 PASS - - - - - Ins - I 132573079 132573086 1 15 318.812 - - 6 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 2 6 4 26 18 26 18 6 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711213782 3 145739565 G GA 1020 PASS - - - - - Ins - I 145739565 145739572 1 90 904.906 - - 6 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 9 8 11 9 30 24 31 24 11 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711215457 3 151126267 G GA 300 PASS MED12L CCDS33876.1 r.? - - Ins intronic I 151126267 151126277 1 12 266.68 - - 9 1 1 MED12L|CCDS33876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MED12L|CCDS33876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 17 17 0 0 ./. 2 3 2 3 23 29 23 29 2 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711215869 3 152176745 C CGT 480 PASS MBNL1 CCDS3165.1 r.? - - Ins intronic I 152176745 152176764 2 9 421.27 - - 9 1 1 MBNL1|CCDS3165.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MBNL1|CCDS3165.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 0 8 3 14 18 28 18 28 3 14 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711217135 3 156562982 C CT 300 PASS LEKR1 CCDS33883.1 r.? - - Ins intronic I 156562982 156562992 1 12 266.68 - - 9 1 1 LEKR1|CCDS33883.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LEKR1|CCDS33883.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 2 3 2 3 34 31 34 31 2 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711225014 3 184126202 TG T 540 PASS EIF2B5 ENST00000444495 r.? - - Del intronic D 184126202 184126205 1 24 484.841 - - 2 1 1 EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 22 10 22 0 0 ./. 7 2 10 6 18 28 18 28 10 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711226431 3 188409925 C CA 840 PASS LPP CCDS3291.1 r.? - - Ins intronic I 188409925 188409932 1 63 746.102 - - 6 1 1 LPP|CCDS3291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LPP|CCDS3291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 6 8 11 9 25 22 25 23 11 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711234104 4 14426272 AT A 344 PASS - - - - - Del - D 14426272 14426277 1 15 320.99 - - 4 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 2 6 3 19 32 19 32 6 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711236712 4 23135238 GTCTTGAACTCCTGACCTCAAGTGATCT G 504 PASS - - - - - Del - D 23135238 23135266 27 99 963.572 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 10 8 8 4 20 12 22 16 10 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711237547 4 25521379 TG T 776 PASS - - - - - Del - D 25521379 25521381 1 72 808.495 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 8 7 10 9 24 20 24 20 10 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711238614 4 28718742 T TA 1140 PASS - - - - - Ins - I 28718742 28718747 1 108 1010.85 - - 4 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 8 11 8 14 23 28 24 28 8 14 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711240193 4 34113821 C CAT 660 PASS - - - - - Ins - I 34113821 34113832 2 40 579.651 - - 5 1 - - - ./. 0 0 0 0 4 6 4 6 0 0 ./. 4 7 6 12 20 34 20 34 6 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711243214 4 43102072 T TA 720 PASS - - - - - Ins - I 43102072 43102079 1 49 639.572 - - 6 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 6 9 8 24 30 25 30 9 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711243551 4 44221873 AT A 720 PASS KCTD8 CCDS3467.1 r.? - - Del intronic D 44221873 44221875 1 48 645.592 - - 1 1 1 KCTD8|CCDS3467.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCTD8|CCDS3467.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 7 5 7 5 32 19 32 19 7 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711247820 4 58634515 G GT 344 PASS - - - - - Ins - I 58634515 58634522 1 40 585.672 - - 6 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 7 4 14 6 33 23 33 24 14 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711248403 4 60249751 CA C 660 PASS - - - - - Del - D 60249751 60249757 1 40 588.682 - - 5 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 7 8 10 26 27 26 27 8 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711254369 4 79118317 TGGGTCTACTC T 377 PASS FRAS1 ENST00000264895 r.? - - Del intronic D 79118317 79118328 10 44 700.696 - - 1 1 1 FRAS1|ENST00000264895|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRAS1|ENST00000264895|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 10 3 14 6 30 22 30 22 14 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711254871 4 80812824 G GA 900 PASS - - - - - Ins - I 80812824 80812834 1 70 798.862 - - 9 1 1 - - ./. 0 0 0 0 13 18 14 18 0 0 ./. 6 9 10 9 26 41 26 42 10 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711257586 4 89665711 G GA 600 PASS FAM13A CCDS34029.1 r.? - - Ins intronic I 89665711 89665719 1 35 532.374 - - 7 1 1 FAM13A|CCDS34029.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM13A|CCDS34029.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 12 0 0 ./. 4 6 7 10 21 36 21 36 7 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711258390 4 92542203 A AT 960 PASS - - - - - Ins - I 92542203 92542212 1 81 848.548 - - 8 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 8 8 10 14 34 41 34 41 10 14 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711259934 4 98646813 T TA 360 PASS C4orf37 CCDS3645.1 r.? - - Ins intronic I 98646813 98646823 1 12 319.786 - - 9 1 1 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 1 10 3 27 19 27 20 10 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711260666 4 101279017 G GA 300 PASS - - - - - Ins - I 101279017 101279027 1 10 264.682 - - 9 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 4 1 4 1 31 30 31 30 4 1 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711260736 4 101531286 AC A 780 PASS - - - - - Del - D 101531286 101531288 1 54 700.696 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 8 5 8 7 28 25 28 25 8 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711262921 4 109573861 CAT C 1200 PASS OSTC CCDS3681.1 r.? - - Del intronic D 109573861 109573866 2 121 1077.99 - - 2 1 1 OSTC|CCDS3681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OSTC|CCDS3681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 23 13 23 0 0 ./. 10 10 10 12 26 34 26 34 10 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711264592 4 115350863 T TA 420 PASS - - - - - Ins - I 115350863 115350873 1 18 373.083 - - 9 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 5 2 12 4 25 25 26 25 12 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711265449 4 118151834 C CA 720 PASS - - - - - Ins - I 118151834 118151843 1 48 633.551 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 14 0 0 ./. 5 7 7 9 30 23 30 23 7 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711265589 4 118562350 T TA 840 PASS - - - - - Ins - I 118562350 118562360 1 63 746.167 - - 9 1 1 - - ./. 0 0 0 0 4 15 4 15 0 0 ./. 6 8 8 12 21 38 22 38 8 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711268079 4 126179671 A AT 279 PASS - - - - - Ins - I 126179671 126179678 1 36 586.274 - - 6 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 3 8 3 7 28 24 28 26 3 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711268803 4 128320616 AAAGCTTCATCCC A 580 PASS - - - - - Del - D 128320616 128320629 12 121 1076.79 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 10 10 10 11 28 32 28 32 10 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711271859 4 138061651 AT A 960 PASS - - - - - Del - D 138061651 138061658 1 77 862.395 - - 6 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 10 6 10 9 29 25 29 25 10 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711275390 4 150817835 AGT A 670 PASS - - - - - Del - D 150817835 150817840 2 56 696.482 - - 2 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 6 7 8 11 21 27 21 27 8 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711275397 4 150872191 TTA T 1020 PASS - - - - - Del - D 150872191 150872197 2 78 912.682 - - 2 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 12 6 15 22 29 22 29 6 15 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711275649 4 151673635 T TA 360 PASS LRBA CCDS3773.1 r.? - - Ins intronic I 151673635 151673645 1 15 319.786 - - 9 1 1 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRBA|CCDS3773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 4 2 7 5 28 15 28 15 7 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711275890 4 152310132 AG A 300 PASS - - - - - Del - D 152310132 152310136 1 6 269.498 - - 3 1 - - - ./. 0 0 0 0 4 14 4 14 0 0 ./. 0 5 2 6 5 18 5 18 2 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711280680 4 166832404 CT C 929 PASS TLL1 CCDS3811.1 r.? - - Del intronic D 166832404 166832413 1 77 849.752 - - 8 1 1 TLL1|CCDS3811.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TLL1|CCDS3811.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 10 6 14 6 22 16 22 16 14 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711280830 4 167295101 G GT 1073 PASS - - - - - Ins - I 167295101 167295103 1 96 958.755 - - 1 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 7 11 10 15 29 26 29 26 10 15 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711284981 4 180303489 AT A 840 PASS - - - - - Del - D 180303489 180303491 1 60 753.994 - - 1 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 5 9 6 11 14 23 14 23 6 11 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711285963 4 182874843 AAAAG A 540 PASS - - - - - Del - D 182874843 182874859 4 30 484.495 - - 3 1 - - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 4 5 5 6 26 24 26 24 5 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711292389 5 7051788 A AT 840 PASS - - - - - Ins - I 7051788 7051795 1 63 745.662 - - 6 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 6 8 10 10 26 29 26 31 10 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711297311 5 22079860 T TTCACTTATCTA 493 PASS CDH12 CCDS3890.1 r.? - - Ins intronic I 22079860 22079872 11 78 804.085 - - 1 1 1 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 6 17 6 0 0 ./. 12 5 10 4 21 23 23 24 12 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711298149 5 24853131 CT C 780 PASS - - - - - Del - D 24853131 24853138 1 54 701.904 - - 6 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 8 5 14 10 30 27 30 27 14 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711299383 5 28897736 TATC T 418 PASS - - - - - Del - D 28897736 28897742 3 24 431.941 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 3 7 5 26 21 26 21 7 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711303139 5 40614487 A AAG 900 PASS - - - - - Ins - I 40614487 40614494 2 60 791.827 - - 3 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 11 4 12 6 25 13 27 13 12 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711306269 5 55137784 AT A 269 PASS - - - - - Del - D 55137784 55137792 1 12 256.116 - - 7 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 3 3 23 22 23 22 3 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711306833 5 56649240 TTTTCCAGATATACAATCA T 293 PASS - - - - - Del - D 56649240 56649260 18 45 647.911 - - 1 1 1 - - ./. 0 0 0 0 12 4 12 4 0 0 ./. 4 8 1 8 15 14 18 14 4 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711308897 5 64502467 CA C 600 PASS ADAMTS6 CCDS3983.2 r.? - - Del intronic D 64502467 64502469 1 27 536.314 - - 1 1 1 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 19 7 19 0 0 ./. 2 8 4 10 12 18 12 18 4 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711312333 5 76610513 C CT 780 PASS PDE8B CCDS4037.1 r.? - - Ins intronic I 76610513 76610522 1 56 694.077 - - 8 1 1 PDE8B|CCDS4037.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE8B|CCDS4037.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 20 24 20 0 0 ./. 6 7 11 9 26 34 26 36 11 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711313215 5 79293211 A ATG 389 PASS - - - - - Ins - I 79293211 79293229 2 18 369.519 - - 8 1 - - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 2 7 2 28 25 29 25 7 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711315732 5 87177960 A AT 720 PASS - - - - - Ins - I 87177960 87177969 1 48 640.687 - - 8 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 7 5 10 10 25 36 25 36 10 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711315820 5 87581985 AAATTTATGG A 319 PASS - - - - - Del - D 87581985 87581995 9 36 593.919 - - 1 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 8 3 10 4 23 13 23 13 10 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711322324 5 110994461 ATG A 300 PASS C5orf13 ENST00000514515 r.? - - Del downstream D 110994461 110994478 2 12 269.963 - - 8 1 - C5orf13|ENST00000514515|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C5orf13|ENST00000514515|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 13 5 13 0 0 ./. 3 2 3 2 25 27 25 27 3 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711323025 5 113269441 G GT 629 PASS - - - - - Ins - I 113269441 113269442 1 42 586.694 - - 0 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 6 5 8 7 20 19 21 19 8 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711323770 5 116121858 AG A 660 PASS - - - - - Del - D 116121858 116121860 1 42 591.51 - - 1 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 5 6 7 6 19 13 19 13 7 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711325755 5 123061862 CAG C 300 PASS - - - - - Del - D 123061862 123061878 2 12 269.963 - - 7 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 3 2 25 30 25 30 3 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711327899 5 130661142 CT C 540 PASS CDC42SE2 CCDS34224.1 r.? - - Del intronic D 130661142 130661147 1 28 484.729 - - 4 1 1 CDC42SE2|CCDS34224.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CDC42SE2|CCDS34224.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 6 8 13 25 29 25 29 8 13 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711330167 5 139825768 ATTTATTGGGTTAACTGTGAAGTTAACC A 290 PASS ANKHD1 CCDS4224.1 r.? - - Del intronic D 139825768 139825796 27 32 539.926 - - 1 1 1 ANKHD1|CCDS4224.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKHD1|CCDS4224.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 7 3 6 17 21 17 22 3 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711334553 5 155825135 GT G 720 PASS SGCD CCDS47325.1 r.? - - Del intronic D 155825135 155825139 1 49 646.707 - - 3 1 1 SGCD|CCDS47325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCD|CCDS47325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 6 8 8 20 28 20 28 8 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711335737 5 160011754 GT G 840 PASS ATP10B CCDS43394.1 r.? - - Del intronic D 160011754 160011756 1 60 755.897 - - 1 1 1 ATP10B|CCDS43394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP10B|CCDS43394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 9 11 12 24 23 24 23 11 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711341866 5 179892330 T TA 360 PASS - - - - - Ins - I 179892330 179892338 1 16 319.741 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 3 7 6 21 18 21 18 7 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711342494 6 963022 AC A 2040 PASS - - - - - Del - D 963022 963025 1 320 1824.1 - - 2 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 15 19 20 22 44 40 44 40 20 22 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711345894 6 9519550 ATTC A 749 PASS - - - - - Del - D 9519550 9519559 3 56 698.493 - - 2 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 7 8 8 38 37 38 37 8 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711346253 6 10416393 CG C 1320 PASS TFAP2A CCDS4510.1 r.? - - Del upstream D 10416393 10416397 1 144 1184.94 - - 3 1 1 TFAP2A|CCDS4510.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TFAP2A|ENST00000482890|r.30delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 19 16 19 16 0 0 ./. 11 11 17 15 31 28 31 28 17 15 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711360909 6 47807251 GT G 1138 PASS - - - - - Del - D 47807251 47807253 1 117 1075.3 - - 1 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 12 8 19 14 31 26 31 26 19 14 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711361154 6 48704511 A AT 1260 PASS - - - - - Ins - I 48704511 48704517 1 132 1118.98 - - 5 1 1 - - ./. 0 0 0 0 7 24 7 24 0 0 ./. 11 10 14 13 53 36 53 37 14 13 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711363156 6 54298973 CT C 2160 PASS - - - - - Del - D 54298973 54298980 1 352 1939.15 - - 6 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 21 15 28 21 52 41 52 41 28 21 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711363517 6 55083131 G GT 2069 PASS HCRTR2 CCDS4956.1 r.? - - Ins intronic I 55083131 55083133 1 330 1862.36 - - 1 1 1 HCRTR2|CCDS4956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HCRTR2|CCDS4956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 15 0 0 ./. 21 14 26 15 43 31 43 31 26 15 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711366103 6 62861618 TAC T 300 PASS KHDRBS2 CCDS4963.1 r.? - - Del intronic D 62861618 62861636 2 6 268.975 - - 8 1 1 KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 0 5 0 5 31 32 31 32 0 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711367177 6 65911706 T TTG 929 PASS EYS CCDS47445.1 r.? - - Ins intronic I 65911706 65911725 2 77 842.178 - - 9 1 1 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 6 10 13 17 37 34 37 34 13 17 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711370796 6 75146139 TA T 329 PASS - - - - - Del - D 75146139 75146141 1 7 315.666 - - 1 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 6 0 9 0 37 23 37 23 9 0 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711371076 6 76230709 CAG C 360 PASS - - - - - Del - D 76230709 76230724 2 12 323.493 - - 7 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 1 5 1 5 26 33 26 33 1 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711372078 6 78941257 A ATATT 298 PASS - - - - - Ins - I 78941257 78941275 4 12 309.043 - - 4 1 1 - - ./. 0 0 0 0 5 8 5 15 0 0 ./. 1 5 3 5 16 21 16 32 3 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711373630 6 83217180 AG A 600 PASS - - - - - Del - D 83217180 83217182 1 32 539.155 - - 1 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 7 3 8 4 38 47 38 47 8 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711375429 6 88549211 A AT 596 PASS - - - - - Ins - I 88549211 88549219 1 40 638.557 - - 7 1 1 - - ./. 0 0 0 0 15 23 15 23 0 0 ./. 9 3 13 5 39 32 39 32 13 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711377673 6 95095357 A AT 2520 PASS - - - - - Ins - I 95095357 95095365 1 484 2235.55 - - 7 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 21 21 29 26 59 44 59 44 29 26 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711377764 6 95334239 G GT 1560 PASS - - - - - Ins - I 95334239 95334248 1 195 1386.15 - - 8 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 12 14 18 17 39 33 39 33 18 17 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711378232 6 97020985 AATTC A 540 PASS FHL5 CCDS5035.1 r.? - - Del intronic D 97020985 97021000 4 30 485.239 - - 3 1 - FHL5|CCDS5035.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FHL5|CCDS5035.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 4 5 8 10 34 35 34 35 8 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711378468 6 97738946 CAG C 1380 PASS - - - - - Del - D 97738946 97738953 2 150 1235.24 - - 3 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 9 14 14 19 23 33 23 33 14 19 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711384382 6 116226119 C CA 1740 PASS - - - - - Ins - I 116226119 116226126 1 234 1534.65 - - 6 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 17 12 22 15 29 22 29 22 22 15 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711384823 6 117931073 TC T 1529 PASS - - - - - Del - D 117931073 117931079 1 171 1391.57 - - 5 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 18 8 25 12 29 15 29 15 25 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711386559 6 124229503 TA T 1620 PASS NKAIN2 CCDS34526.1 r.? - - Del intronic D 124229503 124229510 1 208 1455.72 - - 6 1 1 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 15 12 22 16 29 17 29 17 22 16 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711387354 6 127933833 G GA 1320 PASS - - - - - Ins - I 127933833 127933841 1 135 1169.28 - - 7 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 14 8 23 13 34 21 34 21 23 13 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711388342 6 131744420 CACAT C 300 PASS - - - - - Del - D 131744420 131744428 4 10 269.577 - - 1 1 - - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 1 4 1 22 21 22 21 4 1 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711397047 6 165393180 A AAT 300 PASS - - - - - Ins - I 165393180 165393190 2 12 263.557 - - 4 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 2 3 4 5 9 9 9 9 4 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711401910 7 7270874 G GT 300 PASS C1GALT1 CCDS5355.1 r.? - - Ins intronic I 7270874 7270884 1 12 265.889 - - 9 1 1 C1GALT1|CCDS5355.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C1GALT1|CCDS5355.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 5 2 52 58 52 58 5 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711403135 7 10155432 G GA 300 PASS - - - - - Ins - I 10155432 10155442 1 12 261.072 - - 9 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 2 4 2 54 55 54 55 4 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711403922 7 12149524 CT C 1740 PASS - - - - - Del - D 12149524 12149531 1 238 1563.11 - - 6 1 1 - - ./. 0 0 0 0 8 22 8 22 0 0 ./. 16 13 24 19 40 27 40 27 24 19 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711405378 7 15734012 GCT G 360 PASS - - - - - Del - D 15734012 15734017 2 12 323.402 - - 2 1 1 - - ./. 0 0 0 0 7 20 7 20 0 0 ./. 1 5 2 5 40 64 40 64 2 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711405866 7 16928215 AT A 360 PASS - - - - - Del - D 16928215 16928217 1 12 316.177 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 1 5 1 5 27 44 27 44 1 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711406088 7 17561791 G GA 2516 PASS - - - - - Ins - I 17561791 17561797 1 520 2342.71 - - 5 1 1 - - ./. 0 0 0 0 11 12 12 14 0 0 ./. 25 19 31 23 57 35 58 37 31 23 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711406758 7 19214417 AG A 1020 PASS - - - - - Del - D 19214417 19214420 1 84 915.702 - - 2 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 11 6 15 7 55 57 55 57 15 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711409738 7 26047688 C CA 420 PASS - - - - - Ins - I 26047688 26047694 1 18 364.659 - - 5 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 5 3 7 28 39 28 40 3 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711411255 7 29599320 TTG T 300 PASS PRR15 CCDS5421.1 r.? - - Del upstream D 29599320 29599338 2 10 269.501 - - 8 1 1 PRR15|CCDS5421.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PRR15|CCDS5421.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 18 7 18 7 0 0 ./. 1 4 1 5 38 45 38 45 1 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711412471 7 32807807 C CA 300 PASS AVL9 ENST00000404479 r.? - - Ins intronic I 32807807 32807817 1 6 266.491 - - 9 1 1 AVL9|ENST00000404479|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AVL9|ENST00000404479|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 0 5 0 5 42 52 42 52 0 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711416689 7 43135422 CAG C 300 PASS - - - - - Del - D 43135422 43135438 2 12 267.093 - - 7 1 - - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 2 3 2 3 42 24 42 24 2 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711423219 7 57847103 A AT 1655 PASS - - - - - Ins - I 57847103 57847113 1 234 1531.8 - - 9 1 1 - - ./. 0 0 0 0 14 29 14 29 0 0 ./. 12 17 26 29 54 72 54 73 26 29 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711423349 7 57946374 A AT 420 PASS - - - - - Ins - I 57946374 57946381 1 20 373.087 - - 6 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 3 7 12 48 51 49 51 7 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711427493 7 69569777 C CT 300 PASS AUTS2 CCDS5539.1 r.? - - Ins intronic I 69569777 69569787 1 12 265.889 - - 9 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 2 4 49 46 49 46 2 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711433249 7 84919325 TA T 1709 PASS - - - - - Del - D 84919325 84919330 1 228 1549.86 - - 4 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 18 11 20 14 39 29 39 29 20 14 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711443166 7 113288847 G GA 1020 PASS - - - - - Ins - I 113288847 113288853 1 90 906.069 - - 5 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 8 9 12 9 38 37 38 38 12 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711444706 7 118360355 C CTC 329 PASS - - - - - Ins - I 118360353 118360356 2 15 316.177 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 2 0 1 37 31 38 31 4 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711446616 7 125367718 G GT 300 PASS - - - - - Ins - I 125367718 125367728 1 12 266.491 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 2 4 2 40 45 40 45 4 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711449614 7 134622067 TCAATCAGATACTCCCAGGAATGAGTGAGC T 406 PASS CALD1 CCDS5836.1 r.? - - Del intronic D 134622067 134622098 29 60 748.583 - - 1 1 1 CALD1|CCDS5836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CALD1|CCDS5836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 9 5 8 4 22 16 23 17 9 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711451105 7 139405748 C CGTACGAAGACAA 257 PASS HIPK2 ENST00000406875 r.? - - Ins intronic I 139405748 139405761 12 32 465.551 - - 1 1 1 HIPK2|ENST00000406875|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HIPK2|ENST00000406875|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 12 23 12 0 0 ./. 7 3 2 1 20 21 25 23 7 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711452599 7 144679275 GTT G 300 PASS - - - - - Del - D 144679275 144679281 2 12 269.501 - - 5 1 1 - - ./. 0 0 0 0 21 2 21 2 0 0 ./. 3 2 5 5 18 15 18 15 5 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711452736 7 145033359 G GA 694 PASS - - - - - Ins - I 145033359 145033367 1 64 746.175 - - 7 1 1 - - ./. 0 0 0 0 19 17 20 18 0 0 ./. 7 7 13 12 28 32 28 32 13 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711454593 7 150960857 GTCTC G 658 PASS SMARCD3 CCDS5924.1 r.? - - Del intronic D 150960857 150960867 4 40 644.395 - - 4 1 1 SMARCD3|CCDS5924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMARCD3|CCDS5924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 21 10 21 0 0 ./. 3 9 7 14 14 33 14 33 7 14 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711456898 7 157409808 T TG 360 PASS PTPRN2 CCDS5949.1 r.? - - Ins intronic I 157409808 157409816 1 16 318.585 - - 7 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000222012|ENST00000409610|r.1807_1808insg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 3 4 4 16 15 16 15 4 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711461574 8 16683573 T TAC 360 PASS - - - - - Ins - I 16683573 16683584 2 16 316.504 - - 5 1 - - - ./. 0 0 0 0 17 10 18 11 0 0 ./. 3 3 5 8 14 14 14 14 5 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711465743 8 36189056 CTG C 300 PASS - - - - - Del - D 36189056 36189073 2 12 269.172 - - 8 1 - - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 2 3 28 28 28 28 2 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711466825 8 39922541 A AC 360 PASS - - - - - Ins - I 39922541 39922543 1 12 320.116 - - 1 1 1 - - ./. 0 0 0 0 3 12 3 12 0 0 ./. 1 5 1 6 26 36 26 36 1 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711467801 8 42917509 C CT 1260 PASS FNTA CCDS6140.1 r.? - - Ins intronic I 42917509 42917511 1 130 1116.19 - - 1 1 1 FNTA|CCDS6140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FNTA|CCDS6140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 9 12 11 13 19 22 19 22 11 13 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711468656 8 48718012 ACACTT A 598 PASS PRKDC ENST00000314191 r.? - - Del intronic D 48718012 48718020 5 36 593.503 - - 1 1 1 PRKDC|ENST00000314191|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKDC|ENST00000314191|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 22 14 22 0 0 ./. 3 8 5 9 38 51 38 51 5 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711469050 8 49955027 ATG A 360 PASS - - - - - Del - D 49955027 49955047 2 15 322.525 - - 9 1 1 - - ./. 0 0 0 0 22 11 22 11 0 0 ./. 2 4 4 4 54 36 54 36 4 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711470062 8 52708918 A AC 300 PASS PXDNL CCDS47855.1 r.? - - Ins intronic I 52708918 52708921 1 6 260.141 - - 2 1 1 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 0 7 3 51 56 51 56 7 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711470068 8 52724133 C CAT 449 PASS PXDNL CCDS47855.1 r.? - - Ins upstream I 52724133 52724139 2 24 422.005 - - 2 1 1 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 3 8 5 52 49 53 49 8 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711473636 8 62027922 T TTTTA 367 PASS - - - - - Ins - I 62027922 62027946 4 18 463.919 - - 5 1 - - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 8 1 11 2 25 22 25 22 11 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711474546 8 64515310 G GT 1020 PASS - - - - - Ins - I 64515310 64515317 1 90 906.996 - - 6 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 8 9 11 9 65 63 65 63 11 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711474912 8 65864874 TA T 600 PASS - - - - - Del - D 65864874 65864884 1 32 532.323 - - 9 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 7 3 11 7 44 57 44 57 11 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711477401 8 72113666 ACT A 300 PASS EYA1 CCDS34906.1 r.? - - Del intronic D 72113666 72113681 2 12 269.774 - - 7 1 1 EYA1|CCDS34906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYA1|CCDS34906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 2 3 60 45 60 45 3 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711477770 8 73230798 G GA 480 PASS - - - - - Ins - I 73230798 73230807 1 24 426.22 - - 8 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 5 6 7 50 60 50 63 6 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711479649 8 77793717 CTG C 360 PASS - - - - - Del - D 77793717 77793735 2 12 323.729 - - 8 1 - - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 1 5 1 48 36 48 36 5 1 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711480224 8 79251054 G GT 2609 PASS - - - - - Ins - I 79251054 79251062 1 513 2316.21 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 10 0 0 ./. 26 18 35 23 64 40 65 40 35 23 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711484941 8 92131238 GACTA G 449 PASS LRRC69 CCDS47890.1 r.? - - Del intronic D 92131238 92131247 4 24 431.036 - - 2 1 1 LRRC69|CCDS47890.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRC69|CCDS47890.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 3 7 6 58 55 58 55 7 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711486589 8 95960960 TCCAACGG T 319 PASS TP53INP1 CCDS47899.1 r.? - - Del intronic D 95960960 95960970 7 40 583.87 - - 1 1 1 TP53INP1|CCDS47899.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TP53INP1|CCDS47899.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 7 4 9 32 46 32 46 4 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711488364 8 100029733 TA T 300 PASS VPS13B CCDS6280.1 r.? - - Del intronic D 100029733 100029735 1 10 259.539 - - 1 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 1 5 2 37 41 37 41 5 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711488740 8 101060199 GT G 360 PASS RGS22 CCDS43758.1 r.? - - Del intronic D 101060199 101060201 1 7 322.525 - - 1 1 1 RGS22|CCDS43758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS22|CCDS43758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 0 7 0 53 37 53 37 7 0 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711492840 8 110801951 CGT C 300 PASS - - - - - Del - D 110801951 110801966 2 12 269.774 - - 7 1 - - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 3 3 50 53 50 53 3 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711493864 8 113554060 G GA 720 PASS CSMD3 CCDS6315.1 r.? - - Ins intronic I 113554060 113554069 1 45 640.233 - - 8 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 17 22 17 0 0 ./. 8 4 9 5 55 43 56 43 9 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711494280 8 114720144 CT C 300 PASS - - - - - Del - D 114720144 114720154 1 6 269.774 - - 9 1 1 - - ./. 0 0 0 0 16 6 16 6 0 0 ./. 0 5 1 6 54 55 54 55 1 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711494512 8 115205341 G GA 540 PASS - - - - - Ins - I 115205341 115205350 1 30 480.174 - - 8 1 1 - - ./. 0 0 0 0 15 14 16 14 0 0 ./. 5 4 7 7 60 47 61 48 7 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711495025 8 116694834 TAC T 300 PASS TRPS1 ENST00000422939 r.? - - Del intronic D 116694834 116694849 2 12 268.57 - - 7 1 1 TRPS1|ENST00000422939|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRPS1|ENST00000422939|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 2 3 4 3 41 40 41 40 4 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711496922 8 121335504 G GT 420 PASS COL14A1 CCDS34938.1 r.? - - Ins intronic I 121335504 121335514 1 20 370.459 - - 9 1 1 COL14A1|CCDS34938.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL14A1|CCDS34938.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 26 21 26 0 0 ./. 3 4 3 4 58 58 59 58 3 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711498094 8 124312221 TAC T 329 PASS - - - - - Del - D 124312221 124312238 2 16 314.698 - - 8 1 - - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 3 3 3 52 56 52 56 3 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711498471 8 125248866 A AT 420 PASS ENSG00000214803 ENST00000399016 r.? - - Ins intronic I 125248866 125248868 1 20 368.653 - - 1 1 1 ENSG00000214803|ENST00000399016|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000214803|ENST00000399016|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 13 9 0 0 ./. 4 3 5 4 62 54 63 55 5 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711498686 8 125718799 C CT 780 PASS MTSS1 CCDS6353.1 r.? - - Ins intronic I 125718799 125718801 1 56 693.585 - - 1 1 1 MTSS1|CCDS6353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTSS1|CCDS6353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 7 6 8 9 37 61 39 63 8 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711499391 8 127309627 AG A 300 PASS - - - - - Del - D 127309627 127309629 1 6 257.733 - - 1 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 5 0 7 0 51 50 51 50 7 0 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711501122 8 131524222 CTG C 300 PASS - - - - - Del - D 131524222 131524236 2 12 262.549 - - 6 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 2 3 2 47 49 47 49 3 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711502579 8 135806054 GC G 3240 PASS - - - - - Del - D 135806054 135806059 1 703 2903.93 - - 4 1 1 - - ./. 0 0 0 0 12 9 12 10 0 0 ./. 36 18 47 28 66 40 66 40 47 28 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711504879 8 141806970 TAC T 329 PASS PTK2 CCDS6381.1 r.? - - Del intronic D 141806970 141806988 2 15 323.729 - - 8 1 1 PTK2|CCDS6381.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTK2|CCDS6381.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 15 3 15 0 0 ./. 2 4 5 10 51 71 51 71 5 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711507665 9 5318601 C CA 660 PASS - - - - - Ins - I 5318601 5318607 1 40 589.045 - - 5 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 7 8 9 30 30 30 30 8 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711508675 9 9093668 G GC 1080 PASS PTPRD CCDS43786.1 r.? - - Ins intronic I 9093668 9093670 1 84 963.892 - - 1 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 11 12 0 0 ./. 5 13 9 15 28 25 28 25 9 15 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711510149 9 14408699 AT A 2040 PASS - - - - - Del - D 14408699 14408704 1 315 1836.94 - - 4 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 20 14 24 23 27 26 27 26 25 23 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711521621 9 76728405 CAA C 600 PASS - - - - - Del - D 76728405 76728408 2 35 540.312 - - 2 1 1 - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 4 6 4 6 20 32 20 32 4 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711523106 9 81642726 ATAT A 540 PASS - - - - - Del - D 81642726 81642734 3 30 487.365 - - 2 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 5 4 5 4 22 22 22 22 5 4 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711524914 9 87571323 TC T 600 PASS NTRK2 CCDS6671.1 r.? - - Del intronic D 87571323 87571325 1 36 541.516 - - 1 1 1 NTRK2|CCDS6671.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTRK2|CCDS6671.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 5 7 7 16 21 16 21 7 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711525686 9 90219464 A AT 600 PASS DAPK1 CCDS43842.1 r.? - - Ins intronic I 90219464 90219474 1 36 533.689 - - 9 1 1 DAPK1|CCDS43842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DAPK1|CCDS43842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 5 7 8 34 20 35 20 7 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711527948 9 98674659 TTG T 269 PASS C9orf102 CCDS35072.1 r.? - - Del intronic D 98674659 98674675 2 12 270.758 - - 7 1 - C9orf102|CCDS35072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C9orf102|CCDS35072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 3 2 3 27 30 27 30 2 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711528951 9 102419089 AG A 300 PASS - - - - - Del - D 102419089 102419092 1 12 270.758 - - 2 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 2 3 5 26 25 26 25 3 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711530521 9 107725160 G GA 960 PASS - - - - - Ins - I 107725160 107725163 1 65 856.191 - - 2 1 1 - - ./. 0 0 0 0 10 2 10 2 0 0 ./. 12 4 15 8 32 20 33 20 15 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711542649 X 9211595 G GT 269 PASS - - - - - Ins - I 9211595 9211605 1 12 258.927 - - 9 1 1 - - ./. 0 0 0 0 22 19 22 19 0 0 ./. 3 2 2 1 31 26 31 26 4 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711543904 X 15193421 G GT 540 PASS - - - - - Ins - I 15193421 15193430 1 24 476.303 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 7 2 13 7 27 22 28 22 13 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711546231 X 24970657 GA G 689 PASS POLA1 CCDS14214.1 r.? - - Del intronic D 24970657 24970667 1 48 650.323 - - 9 1 1 POLA1|CCDS14214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POLA1|CCDS14214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 7 5 9 8 18 25 18 25 9 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711548161 X 33118024 C CA 660 PASS DMD CCDS14233.1 r.? - - Ins intronic I 33118024 33118033 1 36 589.506 - - 8 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 8 3 10 7 29 31 29 31 10 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711548262 X 33472869 CTAA C 807 PASS - - - - - Del - D 33472869 33472874 3 70 812.301 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 9 6 11 8 27 26 27 26 11 8 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711548962 X 37073277 TAATATTTCAAAAAGTTGATTTAA T 261 PASS - - - - - Del - D 37073277 37073308 23 24 487.742 - - 1 1 1 - - ./. 0 0 0 0 15 5 15 5 0 0 ./. 7 2 4 2 22 22 25 22 7 2 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711551312 X 47827765 C CAT 420 PASS ZNF81 ENST00000376950 r.? - - Ins intronic I 47827765 47827776 2 18 370.926 - - 5 1 - ZNF81|ENST00000376950|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF81|ENST00000376950|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 2 5 8 10 30 35 30 35 8 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711553334 X 57606942 A AC 300 PASS - - - - - Ins - I 57606942 57606952 1 10 267.958 - - 9 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 1 4 4 6 25 21 26 21 4 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711553892 X 64786497 CT C 420 PASS - - - - - Del - D 64786497 64786507 1 20 379.355 - - 9 1 1 - - ./. 0 0 0 0 25 23 25 23 0 0 ./. 4 3 11 5 29 16 29 16 11 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711554164 X 66185843 AT A 389 PASS - - - - - Del - D 66185843 66185853 1 20 379.355 - - 9 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 4 4 9 20 28 20 28 4 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711555716 X 73765219 A AATGGG 480 PASS - - - - - Ins - I 73765219 73765249 5 24 409.466 - - 5 1 - - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 3 6 3 31 26 31 26 6 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711555819 X 74384621 TA T 900 PASS - - - - - Del - D 74384621 74384631 1 66 812.903 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 10 9 12 28 29 28 29 9 12 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711556542 X 78196917 A AT 600 PASS P2RY10 CCDS14442.1 r.? - - Ins upstream I 78196917 78196924 1 27 535.313 - - 6 1 1 P2RY10|CCDS14442.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 P2RY10|CCDS14442.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 19 11 19 11 0 0 ./. 8 2 11 5 29 23 29 23 11 5 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711557240 X 81245054 AATGC A 538 PASS - - - - - Del - D 81245054 81245061 4 36 541.936 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 5 6 6 28 26 28 26 6 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711557568 X 82623818 GA G 300 PASS - - - - - Del - D 82623818 82623824 1 12 270.968 - - 5 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 3 2 3 3 18 42 18 42 3 3 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711560279 X 93243779 G GA 600 PASS - - - - - Ins - I 93243779 93243786 1 35 534.711 - - 6 1 1 - - ./. 0 0 0 0 12 12 12 13 0 0 ./. 4 6 6 7 28 29 29 29 6 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711563589 X 109715870 G GT 840 PASS - - - - - Ins - I 109715870 109715880 1 63 747.873 - - 9 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 8 6 9 10 30 27 30 27 9 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711563745 X 110878884 TAC T 360 PASS - - - - - Del - D 110878884 110878902 2 12 323.957 - - 8 1 - - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 5 1 5 1 22 23 22 23 5 1 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711563780 X 111057226 AT A 480 PASS TRPC5 CCDS14561.1 r.? - - Del intronic D 111057226 111057228 1 16 433.549 - - 1 1 1 TRPC5|CCDS14561.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPC5|CCDS14561.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 7 2 9 16 20 16 20 2 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711566661 X 123086443 T TA 537 PASS - - - - - Ins - I 123086443 123086445 1 30 482.324 - - 1 1 - - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 5 6 9 18 23 18 23 6 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711566679 X 123191804 G GT 629 PASS STAG2 CCDS43990.1 r.1903_1904insu c.1393_1394insT p.F468fs*5 Ins frameshift I 123191804 123191812 1 42 589.507 - - 7 1 1 STAG2|CCDS43990.1|r.1903_1904insu|c.1393_1394insT|p.F468fs*5|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 STAG2|CCDS43990.1|r.1903_1904insu|c.1393_1394insT|p.F468fs*5|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 9 13 9 13 0 0 ./. 6 5 8 6 19 18 19 18 8 6 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711567390 X 126282717 G GA 960 PASS - - - - - Ins - I 126282717 126282724 1 80 857.464 - - 6 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 9 7 15 10 29 26 31 26 15 10 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711567435 X 126494329 A AAT 480 PASS - - - - - Ins - I 126494329 126494340 2 21 422.711 - - 5 1 1 - - ./. 0 0 0 0 12 14 13 14 0 0 ./. 2 6 4 7 18 31 18 31 4 7 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711569588 X 137607190 AAG A 960 PASS - - - - - Del - D 137607190 137607195 2 77 862.281 - - 2 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 10 6 11 9 25 24 25 24 11 9 1 1 1 1 1 1 1 1 2662629 PD18010a PD18010b 2711571169 X 144583504 AC A 420 PASS - - - - - Del - D 144583504 144583514 1 20 379.355 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 4 3 4 10 13 10 13 3 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719831839 1 7588485 GT G 329 PASS CAMTA1 CCDS30576.1 r.? - - Del intronic D 7588485 7588492 1 12 322.128 - - 6 1 1 CAMTA1|CCDS30576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMTA1|CCDS30576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 5 2 5 20 21 20 21 2 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719836057 1 18680354 AC A 689 PASS IGSF21 CCDS184.1 r.? - - Del intronic D 18680354 18680356 1 40 635.224 - - 1 1 1 IGSF21|CCDS184.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGSF21|CCDS184.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 9 7 9 21 30 21 30 7 9 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719841085 1 32466314 CTACT C 387 PASS - - - - - Del - D 32466314 32466321 4 25 423.483 - - 1 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 4 7 4 22 21 22 21 7 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719842498 1 37118055 C CT 840 PASS - - - - - Ins - I 37118055 37118061 1 64 736.579 - - 5 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 7 7 10 7 28 25 28 25 10 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719844701 1 43466303 TATTTA T 418 PASS - - - - - Del - D 43466303 43466312 5 24 425.289 - - 1 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 3 5 4 6 21 30 21 30 4 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719859798 1 90975433 CTT C 517 PASS - - - - - Del - D 90975433 90975437 2 28 483.191 - - 3 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 6 6 10 18 28 18 28 6 10 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719868719 1 119451431 G GCA 420 PASS TBX15 CCDS30816.1 r.? - - Ins intronic I 119451431 119451446 2 20 367.387 - - 7 1 - TBX15|CCDS30816.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TBX15|CCDS30816.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 3 4 6 8 30 26 30 26 6 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719875129 1 152007997 AAATT A 447 PASS S100A11 CCDS1009.1 r.? - - Del intronic D 152007997 152008004 4 28 483.191 - - 1 1 1 S100A11|CCDS1009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 S100A11|CCDS1009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 19 20 19 0 0 ./. 6 3 7 3 33 27 33 27 7 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719876460 1 155691193 A ATG 300 PASS DAP3 CCDS1120.1 r.? - - Ins intronic I 155691193 155691195 2 10 262.419 - - 0 1 - DAP3|CCDS1120.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DAP3|CCDS1120.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 4 1 12 6 37 23 37 23 12 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719876856 1 156590184 GC G 360 PASS HAPLN2 CCDS1148.1 r.? - - Del intronic D 156590184 156590187 1 16 322.128 - - 2 1 1 HAPLN2|CCDS1148.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HAPLN2|CCDS1148.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 3 5 4 34 22 34 22 5 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719878706 1 162398073 G GA 360 PASS - - - - - Ins - I 162398073 162398082 1 15 315.505 - - 8 1 1 - - ./. 0 0 0 0 10 22 11 22 0 0 ./. 2 4 3 7 28 30 28 30 3 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719883108 1 174315067 G GT 300 PASS RABGAP1L CCDS1314.1 r.? - - Ins intronic I 174315067 174315077 1 12 264.827 - - 9 1 1 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 17 0 0 ./. 2 3 2 3 32 34 32 34 2 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719885771 1 180937853 C CA 300 PASS STX6 CCDS1341.1 r.? - - Ins downstream I 180937853 180937863 1 12 265.429 - - 9 1 1 STX6|CCDS1341.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 STX6|CCDS1341.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 2 13 8 40 30 41 31 13 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719886667 1 183465973 C CA 600 PASS SMG7 CCDS1355.1 r.? - - Ins intronic I 183465973 183465982 1 32 529.655 - - 8 1 1 SMG7|CCDS1355.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMG7|CCDS1355.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 7 10 9 37 33 37 34 10 9 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719889680 1 191261898 G GT 480 PASS - - - - - Ins - I 191261898 191261902 1 9 422.279 - - 3 1 1 - - ./. 0 0 0 0 8 20 8 20 0 0 ./. 0 8 3 9 29 49 29 49 3 9 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719898222 1 212499938 CA C 300 PASS PPP2R5A CCDS1503.1 r.? - - Del intronic D 212499938 212499948 1 10 268.44 - - 9 1 1 PPP2R5A|CCDS1503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP2R5A|CCDS1503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 1 4 1 37 49 37 49 4 1 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719905364 1 230495806 AT A 300 PASS PGBD5 CCDS1583.1 r.? - - Del intronic D 230495806 230495809 1 6 267.838 - - 2 1 1 PGBD5|CCDS1583.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PGBD5|CCDS1583.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 0 5 1 6 26 45 26 45 1 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719907736 1 236249974 CCGGAAGTACTGGAGGA C 319 PASS - - - - - Del - D 236249974 236249991 16 36 589.965 - - 1 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 8 3 8 15 30 15 30 3 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719908811 1 238049426 GC G 1169 PASS ZP4 CCDS1615.1 r.? - - Del intronic D 238049426 238049429 1 120 1073.16 - - 2 1 1 ZP4|CCDS1615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZP4|CCDS1615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 11 9 18 14 42 37 42 37 18 14 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719919138 10 12978986 CT C 360 PASS CCDC3 CCDS7093.1 r.? - - Del intronic D 12978986 12978989 1 7 323.437 - - 2 1 1 CCDC3|CCDS7093.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC3|CCDS7093.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 6 0 6 3 21 25 21 25 6 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719928285 10 37209644 A ATT 360 PASS - - - - - Ins - I 37209644 37209647 2 12 316.212 - - 2 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 1 5 2 8 14 35 15 36 2 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719928376 10 37528526 CAG C 780 PASS - - - - - Del - D 37528526 37528531 2 44 700.781 - - 2 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 10 5 11 25 31 25 31 5 11 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719934259 10 57492982 AC A 389 PASS - - - - - Del - D 57492982 57492987 1 20 376.741 - - 4 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 3 6 3 22 14 22 14 6 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719958623 10 131468959 AG A 360 PASS MGMT CCDS7660.2 r.? - - Del intronic D 131468959 131468961 1 16 323.437 - - 1 1 1 MGMT|CCDS7660.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MGMT|CCDS7660.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 3 8 5 24 29 24 29 8 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719962445 11 7770735 G GA 420 PASS - - - - - Ins - I 7770735 7770744 1 18 373.248 - - 8 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 5 5 8 24 24 24 24 5 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719979225 11 58685192 AC A 360 PASS - - - - - Del - D 58685192 58685194 1 15 322.851 - - 1 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 2 4 4 7 15 29 15 29 4 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719981706 11 65777962 TG T 360 PASS CST6 CCDS8126.1 r.? - - Del upstream D 65777962 65777967 1 15 324.055 - - 4 1 1 CST6|CCDS8126.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CST6|CCDS8126.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 2 6 4 18 15 18 15 6 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2719986415 11 80293669 TA T 389 PASS - - - - - Del - D 80293669 80293673 1 18 378.064 - - 3 1 1 - - ./. 0 0 0 0 1 15 1 15 0 0 ./. 2 5 2 8 9 23 9 23 2 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720005294 12 4110841 GT G 420 PASS - - - - - Del - D 4110841 4110846 1 20 377.588 - - 4 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 4 5 6 28 28 28 28 5 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720014139 12 27571998 AT A 420 PASS ARNTL2 CCDS8712.1 r.? - - Del intronic D 27571998 27572002 1 18 376.384 - - 3 1 1 ARNTL2|CCDS8712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARNTL2|CCDS8712.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 21 14 21 0 0 ./. 2 5 4 9 30 23 30 23 4 9 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720016158 12 32300365 AT A 540 PASS BICD1 CCDS8726.1 r.? - - Del intronic D 32300365 32300369 1 30 486.245 - - 3 1 1 BICD1|CCDS8726.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BICD1|CCDS8726.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 5 6 7 18 27 18 27 6 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720016940 12 34718145 TC T 366 PASS - - - - - Del - D 34718145 34718147 1 20 376.986 - - 1 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 4 3 7 5 21 27 21 27 7 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720019360 12 45490751 AG A 660 PASS - - - - - Del - D 45490751 45490753 1 40 594.299 - - 1 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 7 4 8 7 23 30 23 30 8 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720020090 12 47952599 CTT C 540 PASS - - - - - Del - D 47952599 47952604 2 30 486.245 - - 4 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 4 6 5 20 18 20 18 6 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720021839 12 51972856 AG A 300 PASS - - - - - Del - D 51972856 51972859 1 12 270.136 - - 2 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 2 4 13 20 13 20 2 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720024609 12 60294138 T TA 420 PASS - - - - - Ins - I 60294138 60294140 1 20 373.976 - - 1 1 1 - - ./. 0 0 0 0 14 9 15 9 0 0 ./. 3 4 5 5 15 19 15 19 5 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720030981 12 80029154 CT C 480 PASS PAWR CCDS31863.1 r.? - - Del intronic D 80029154 80029156 1 25 432.217 - - 1 1 1 PAWR|CCDS31863.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAWR|CCDS31863.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 4 6 5 16 23 16 23 6 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720032512 12 85754091 TA T 300 PASS - - - - - Del - D 85754091 85754099 1 6 265.922 - - 7 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 0 5 1 8 18 23 18 23 1 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720047218 13 19263715 C CT 391 PASS - - - - - Ins - I 19263715 19263719 1 25 427.103 - - 3 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 4 4 4 4 32 36 34 36 4 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720053480 13 34127429 TA T 360 PASS - - - - - Del - D 34127429 34127432 1 7 324.842 - - 2 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 0 6 2 7 13 25 13 25 2 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720058813 13 49566718 TTAG T 627 PASS FNDC3A CCDS41886.1 r.? - - Del intronic D 49566718 49566725 3 48 649.685 - - 2 1 1 FNDC3A|CCDS41886.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FNDC3A|CCDS41886.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 5 7 7 8 30 26 30 26 7 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720062891 13 61521571 AC A 337 PASS - - - - - Del - D 61521571 61521578 1 16 324.842 - - 6 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 5 6 21 18 21 18 5 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720083722 14 26101067 G GA 660 PASS - - - - - Ins - I 26101067 26101077 1 36 582.868 - - 9 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 8 3 10 6 28 29 28 29 10 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720084704 14 29127127 G GT 420 PASS - - - - - Ins - I 29127127 29127132 1 20 375.13 - - 4 1 1 - - ./. 0 0 0 0 20 17 21 17 0 0 ./. 3 4 6 4 26 27 26 27 6 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720087727 14 38011305 CA C 329 PASS MIPOL1 CCDS9664.1 r.? - - Del intronic D 38011305 38011308 1 12 323.346 - - 2 1 1 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 1 5 3 6 20 20 20 20 3 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720097839 14 69259420 C CA 360 PASS ZFP36L1 CCDS9791.1 r.? - - Ins intronic I 69259420 69259424 1 15 306.489 - - 3 1 1 ZFP36L1|CCDS9791.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFP36L1|CCDS9791.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 14 12 0 0 ./. 2 4 4 4 20 15 21 15 4 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720118821 15 41883328 GC G 348 PASS - - - - - Del - D 41883328 41883336 1 18 379.51 - - 7 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 2 6 3 22 11 22 11 6 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720125725 15 62676774 A AT 269 PASS - - - - - Ins - I 62676774 62676782 1 10 266.864 - - 7 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 1 4 3 8 26 33 26 33 3 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720135877 15 93445934 G GT 360 PASS CHD2 CCDS10374.2 r.? - - Ins intronic I 93445934 93445942 1 16 320.477 - - 7 1 1 CHD2|CCDS10374.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHD2|CCDS10374.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 3 3 5 3 15 24 15 25 5 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720143439 16 11293728 CCT C 720 PASS - - - - - Del - D 11293728 11293732 2 48 649.036 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 7 5 8 5 23 10 23 10 8 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720145963 16 17964485 AGTTT A 257 PASS - - - - - Del - D 17964485 17964494 4 10 268.525 - - 2 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 1 4 1 6 17 27 17 27 1 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720151374 16 32509336 G GT 437 PASS - - - - - Ins - I 32509336 32509343 1 28 481.659 - - 6 1 1 - - ./. 0 0 0 0 33 33 35 34 0 0 ./. 3 6 5 8 52 62 52 62 5 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720153179 16 35122520 T TTA 420 PASS - - - - - Ins - I 35122520 35122532 2 14 370.878 - - 5 1 1 - - ./. 0 0 0 0 10 12 11 12 0 0 ./. 1 6 3 7 19 26 20 27 3 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720159656 16 68846091 GT G 480 PASS CDH1 CCDS10869.1 r.1254delU c.1063delT p.L355fs*1 Del frameshift D 68846091 68846094 1 24 431.687 - - 2 1 1 CDH1|CCDS10869.1|r.1254delU|c.1063delT|p.L355fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CDH1|CCDS10869.1|r.1254delU|c.1063delT|p.L355fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 12 5 12 5 0 0 ./. 3 5 3 6 10 20 10 20 3 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720198208 18 20067570 T TTG 269 PASS - - - - - Ins - I 20067570 20067572 2 6 256.985 - - 0 1 1 - - ./. 0 0 0 0 15 24 15 24 0 0 ./. 5 0 1 0 18 11 18 11 5 0 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720199863 18 26221744 GT G 300 PASS - - - - - Del - D 26221744 26221750 1 10 271.435 - - 5 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 4 1 5 3 18 14 18 14 5 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720202979 18 38216995 A AT 300 PASS - - - - - Ins - I 38216995 38217002 1 12 268.424 - - 6 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 3 3 6 13 21 13 21 3 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720203590 18 40345143 GA G 360 PASS RIT2 CCDS11921.1 r.? - - Del intronic D 40345143 40345151 1 12 325.722 - - 7 1 1 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 1 7 4 26 9 26 9 7 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720206075 18 49774265 CT C 660 PASS - - - - - Del - D 49774265 49774272 1 42 597.156 - - 6 1 1 - - ./. 0 0 0 0 4 16 4 16 0 0 ./. 6 5 6 5 15 15 15 15 6 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720208596 18 57622453 ACCT A 538 PASS - - - - - Del - D 57622453 57622460 3 36 542.869 - - 2 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 5 5 5 16 18 16 18 5 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720233135 19 45938844 ACAAG A 360 PASS - - - - - Del - D 45938844 45938849 4 15 325.316 - - 1 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 2 6 3 19 13 19 13 6 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720249604 2 32616896 GCCA G 269 PASS BIRC6 CCDS33175.2 r.? - - Del intronic D 32616896 32616903 3 12 268.856 - - 2 1 1 BIRC6|CCDS33175.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BIRC6|CCDS33175.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 5 2 21 17 21 17 5 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720257054 2 54924957 CTGTT C 509 PASS - - - - - Del - D 54924957 54924971 4 28 481.532 - - 3 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 6 3 6 6 21 28 21 28 7 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720257197 2 55339454 A AT 480 PASS RTN4 ENST00000427710 r.? - - Ins intronic I 55339454 55339459 1 24 421.741 - - 4 1 1 RTN4|ENST00000427710|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RTN4|ENST00000427710|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 5 4 7 22 16 22 16 4 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720266749 2 86752135 CTA C 749 PASS VPS24 CCDS33236.1 r.? - - Del intronic D 86752135 86752144 2 54 697.821 - - 4 1 1 VPS24|CCDS33236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS24|CCDS33236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 8 5 8 6 22 31 22 31 8 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720285790 2 151113701 CTT C 720 PASS - - - - - Del - D 151113701 151113704 2 45 643.448 - - 2 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 8 4 10 21 28 21 28 4 10 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720288399 2 159521313 AATAAAGTGAATATTAATACCTGCCTT A 290 PASS PKP4 CCDS33306.1 r.? - - Del intronic D 159521313 159521348 26 35 534.099 - - 1 1 1 PKP4|CCDS33306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKP4|CCDS33306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 4 6 4 5 19 21 19 22 4 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720290923 2 167732028 T TA 420 PASS - - - - - Ins - I 167732028 167732030 1 20 372.184 - - 1 1 1 - - ./. 0 0 0 0 17 10 17 11 0 0 ./. 3 4 5 4 28 16 29 16 5 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720298080 2 190724999 AC A 300 PASS PMS1 CCDS2302.1 r.? - - Del intronic D 190724999 190725001 1 12 268.856 - - 1 1 1 PMS1|CCDS2302.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PMS1|CCDS2302.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 3 8 4 28 24 28 24 8 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720304357 2 209421613 CAG C 389 PASS - - - - - Del - D 209421613 209421618 2 20 375.796 - - 2 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 4 3 6 7 20 26 20 26 6 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720304805 2 210914440 CAG C 329 PASS C2orf67 CCDS33370.1 r.? - - Del intronic D 210914440 210914444 2 16 319.015 - - 1 1 1 C2orf67|CCDS33370.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C2orf67|CCDS33370.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 3 6 5 28 22 28 22 6 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720311350 2 230554244 G GA 269 PASS DNER CCDS33390.1 r.? - - Ins intronic I 230554244 230554254 1 12 262.233 - - 9 1 1 DNER|CCDS33390.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNER|CCDS33390.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 17 9 0 0 ./. 3 2 3 2 18 22 18 22 3 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720311550 2 231186037 AATGC A 415 PASS SP140 ENST00000420434 r.? - - Del intronic D 231186037 231186043 4 14 376.398 - - 1 1 1 SP140|ENST00000420434|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SP140|ENST00000420434|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 1 6 1 6 16 27 16 27 1 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720320884 20 16488042 GCATT G 267 PASS KIF16B CCDS13122.1 r.? - - Del intronic D 16488042 16488050 4 15 326.062 - - 1 1 1 KIF16B|CCDS13122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF16B|CCDS13122.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 2 5 4 18 16 18 16 5 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720329013 20 42380650 CCTT C 480 PASS - - - - - Del - D 42380650 42380656 3 24 430.535 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 5 5 5 19 17 19 17 5 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720345967 21 32549920 T TC 420 PASS TIAM1 CCDS13609.1 r.? - - Ins intronic I 32549920 32549928 1 14 371.734 - - 7 1 1 TIAM1|CCDS13609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TIAM1|CCDS13609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 14 0 0 ./. 1 6 2 6 12 33 12 33 2 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720363652 3 1045518 GGT G 300 PASS - - - - - Del - D 1045518 1045533 2 12 269.318 - - 7 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 2 3 2 21 12 21 12 3 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720369920 3 19488936 TCTTA T 809 PASS KCNH8 CCDS2632.1 r.? - - Del intronic D 19488936 19488944 4 60 754.09 - - 1 1 1 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 9 5 9 6 21 26 21 26 9 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720372871 3 28964047 AT A 360 PASS - - - - - Del - D 28964047 28964057 1 15 323.181 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 2 5 2 20 30 20 30 5 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720375496 3 36868391 G GA 300 PASS TRANK1 CCDS46789.1 r.8804_8805insu c.? p.? Ins 3'UTR variant I 36868391 36868401 1 12 266.308 - - 9 1 1 TRANK1|CCDS46789.1|r.8804_8805insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 TRANK1|CCDS46789.1|r.8804_8805insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 10 10 11 10 0 0 ./. 3 2 4 2 18 28 19 28 4 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720389029 3 76556928 TA T 540 PASS ROBO2 ENST00000487694 r.? - - Del intronic D 76556928 76556934 1 28 483.568 - - 5 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 6 4 6 16 21 16 21 4 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720391554 3 85152180 CCAAGG C 538 PASS CADM2 ENST00000383699 r.? - - Del intronic D 85152180 85152186 5 35 538.636 - - 1 1 1 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 6 4 9 28 20 28 20 4 9 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720395413 3 100800097 T TA 269 PASS - - - - - Ins - I 100800097 100800107 1 10 255.47 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 4 1 6 17 26 17 26 1 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720397311 3 106471677 A AT 420 PASS - - - - - Ins - I 106471677 106471683 1 18 372.831 - - 5 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 2 5 2 7 18 33 18 33 2 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720405929 3 133632911 GT G 600 PASS - - - - - Del - D 133632911 133632920 1 32 537.432 - - 8 1 1 - - ./. 0 0 0 0 1 15 1 15 0 0 ./. 3 7 6 8 23 19 23 19 6 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720406353 3 135221332 TG T 300 PASS - - - - - Del - D 135221332 135221335 1 12 269.318 - - 2 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 3 3 4 13 21 13 21 3 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720408213 3 141490138 CA C 360 PASS - - - - - Del - D 141490138 141490141 1 16 322.579 - - 2 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 3 5 8 12 18 12 18 5 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720410209 3 147270991 CT C 389 PASS - - - - - Del - D 147270991 147271001 1 20 376.443 - - 9 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 3 5 4 21 26 21 26 5 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720415295 3 163335468 AG A 449 PASS - - - - - Del - D 163335468 163335472 1 21 429.102 - - 3 1 1 - - ./. 0 0 0 0 14 23 14 23 0 0 ./. 2 6 2 9 20 25 20 25 2 9 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720420714 3 180664839 TTTTTA T 507 PASS FXR1 CCDS33894.1 r.? - - Del intronic D 180664839 180664849 5 35 536.83 - - 1 1 1 FXR1|CCDS33894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FXR1|CCDS33894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 4 6 5 7 26 20 26 21 5 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720433504 4 20771445 TTC T 358 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 20771445 20771454 2 20 375.13 - - 4 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 4 3 6 16 18 16 18 3 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720433658 4 21224235 AAT A 300 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 21224235 21224240 2 10 269.24 - - 2 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 1 4 1 5 18 18 18 18 1 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720436755 4 30591503 T TAC 540 PASS - - - - - Ins - I 30591503 30591519 2 18 473.795 - - 7 1 1 - - ./. 0 0 0 0 11 9 12 9 0 0 ./. 8 1 0 2 26 17 27 17 8 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720438213 4 35536089 AC A 360 PASS - - - - - Del - D 35536089 35536091 1 15 321.884 - - 1 1 1 - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 4 2 8 3 31 18 31 18 8 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720441611 4 44036120 AT A 360 PASS - - - - - Del - D 44036120 44036122 1 12 311.649 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 1 5 5 10 26 24 26 24 5 10 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720447020 4 61057950 TG T 360 PASS - - - - - Del - D 61057950 61057960 1 16 321.884 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 3 6 4 20 29 20 29 6 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720448347 4 64685758 ATCT AT 300 PASS - - - - - Complex - DI 64685759 64685761 3 12 0 - - 0 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 2 0 0 31 18 31 18 3 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720449983 4 69143824 AC A 300 PASS - - - - - Del - D 69143824 69143826 1 12 268.638 - - 1 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 3 3 4 31 36 31 36 3 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720461127 4 104089459 A AGG 600 PASS CENPE CCDS34042.1 r.? - - Ins intronic I 104089459 104089462 2 32 525.837 - - 2 1 1 CENPE|CCDS34042.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CENPE|CCDS34042.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 7 4 8 21 19 21 19 4 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720462463 4 109079828 C CA 660 PASS LEF1 CCDS3679.1 r.? - - Ins intronic I 109079828 109079838 1 42 580.287 - - 9 1 1 LEF1|CCDS3679.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LEF1|CCDS3679.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 6 6 7 23 29 23 29 6 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720469237 4 130581306 CAT C 300 PASS - - - - - Del - D 130581306 130581316 2 12 269.24 - - 4 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 2 3 4 5 26 22 26 22 4 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720473097 4 142631583 C CT 300 PASS IL15 CCDS3755.1 r.? - - Ins intronic I 142631583 142631592 1 12 264.424 - - 8 1 1 IL15|CCDS3755.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 IL15|CCDS3755.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 27 23 27 0 0 ./. 3 2 7 2 30 29 31 29 7 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720483227 4 174103301 ACTT A 300 PASS GALNT7 CCDS3815.1 r.? - - Del intronic D 174103301 174103308 3 10 267.434 - - 2 1 1 GALNT7|CCDS3815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT7|CCDS3815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 1 4 1 6 19 20 19 20 1 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720492563 5 5473949 G GT 360 PASS KIAA0947 CCDS47187.1 r.? - - Ins intronic I 5473949 5473953 1 12 319.344 - - 3 1 1 KIAA0947|CCDS47187.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA0947|CCDS47187.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 1 5 4 8 30 35 30 35 4 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720493737 5 8722414 TG T 480 PASS - - - - - Del - D 8722414 8722417 1 25 431.411 - - 2 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 4 4 4 19 29 19 29 4 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720499232 5 24972721 AT A 360 PASS - - - - - Del - D 24972721 24972727 1 12 323.559 - - 5 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 1 5 1 6 9 21 9 21 1 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720504781 5 40799706 T TG 480 PASS PRKAA1 CCDS3932.2 r.? - - Ins upstream I 40799706 40799713 1 16 426.595 - - 6 1 1 PRKAA1|CCDS3932.2|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 PRKAA1|CCDS3932.2|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 17 17 17 17 0 0 ./. 1 7 2 9 25 31 25 31 2 9 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720510158 5 62315945 TCTC T 420 PASS - - - - - Del - D 62315945 62315952 3 18 377.485 - - 2 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 2 5 2 27 27 27 27 5 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720511440 5 66261608 CTTGAA C 269 PASS MAST4 CCDS47225.1 r.? - - Del intronic D 66261608 66261615 5 10 269.632 - - 1 1 1 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 4 1 4 1 32 10 32 10 4 1 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720512532 5 70817603 CAG C 958 PASS BDP1 CCDS43328.1 r.? - - Del intronic D 70817603 70817606 2 90 916.749 - - 1 1 1 BDP1|CCDS43328.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BDP1|CCDS43328.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 9 8 10 11 29 29 29 29 10 11 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720521548 5 101330053 TA T 360 PASS - - - - - Del - D 101330053 101330059 1 15 323.559 - - 5 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 2 5 3 25 20 25 20 5 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720523317 5 107364094 GAT G 360 PASS FBXL17 ENST00000359660 r.? - - Del intronic D 107364094 107364099 2 16 323.559 - - 2 1 1 FBXL17|ENST00000359660|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXL17|ENST00000359660|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 3 3 3 4 25 19 25 19 3 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720524229 5 110618390 AT A 420 PASS CAMK4 CCDS4103.1 r.? - - Del intronic D 110618390 110618396 1 18 377.485 - - 5 1 1 CAMK4|CCDS4103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMK4|CCDS4103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 5 2 6 3 23 29 23 29 6 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720525969 5 116438411 CAG C 300 PASS - - - - - Del - D 116438411 116438431 2 10 269.632 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 1 4 3 22 23 22 23 4 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720529621 5 128512830 C CT 449 PASS - - - - - Ins - I 128512830 128512840 1 21 424.789 - - 9 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 6 2 7 5 26 16 27 17 7 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720534379 5 145029569 ACT A 329 PASS - - - - - Del - D 145029569 145029574 2 16 323.559 - - 2 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 3 3 4 4 21 19 21 19 4 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720541146 5 167486737 CTTG C 300 PASS ODZ2 ENST00000403607 r.? - - Del intronic D 167486737 167486745 3 6 269.632 - - 2 1 1 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ2|ENST00000403607|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 5 0 8 1 29 13 29 13 8 1 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720560315 6 37992082 T TA 420 PASS ZFAND3 CCDS4836.1 r.? - - Ins intronic I 37992082 37992089 1 20 372.727 - - 6 1 1 ZFAND3|CCDS4836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFAND3|CCDS4836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 10 16 10 0 0 ./. 4 3 4 6 16 20 16 20 4 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720565996 6 57035072 C CT 900 PASS ZNF451 CCDS43477.1 r.5235_5236insu c.? p.? Ins 3'UTR variant I 57035072 57035073 1 70 798.787 - - 0 1 1 ZNF451|CCDS43477.1|r.5235_5236insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ZNF451|CCDS43477.1|r.5235_5236insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 9 15 9 15 0 0 ./. 9 6 11 11 32 39 32 39 11 11 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720574915 6 86388184 TC T 329 PASS SNORD50A ENST00000384338 r.? - - Del upstream D 86388184 86388186 1 16 321.803 - - 1 1 1 SNORD50A|ENST00000384338|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 SNORD50A|ENST00000384338|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 3 5 16 10 16 10 3 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720575645 6 89015553 T TA 540 PASS - - - - - Ins - I 89015553 89015557 1 28 475.178 - - 3 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 3 6 8 11 18 24 18 24 8 11 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720581297 6 109950833 G GA 360 PASS AKD1 CCDS5077.1 r.? - - Ins downstream I 109950833 109950839 1 16 317.588 - - 5 1 1 AKD1|CCDS5077.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 AKD1|ENST00000341338|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 3 3 4 3 23 34 23 34 4 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720583673 6 116915989 T TA 360 PASS RWDD1 CCDS34520.1 r.2536_2537insa c.? p.? Ins 3'UTR variant I 116915989 116915996 1 15 319.394 - - 6 1 1 RWDD1|CCDS34520.1|r.2536_2537insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 RWDD1|CCDS34520.1|r.2536_2537insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 13 15 14 15 0 0 ./. 4 2 4 2 18 15 18 15 4 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720584933 6 120805478 TAATAG T 540 PASS - - - - - Del - D 120805478 120805488 5 30 485.413 - - 1 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 4 5 4 6 18 26 18 26 4 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720587239 6 128672162 TAA T 600 PASS PTPRK CCDS47473.1 r.? - - Del intronic D 128672162 128672167 2 36 539.348 - - 4 1 1 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 5 5 7 7 22 25 22 25 7 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720588589 6 133253790 T TA 269 PASS - - - - - Ins - I 133253790 133253791 1 10 266.664 - - 0 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 4 1 5 1 23 13 23 13 5 1 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720591268 6 142565465 A AC 480 PASS - - - - - Ins - I 142565465 142565466 1 21 426.06 - - 0 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 6 4 7 19 20 19 21 4 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720592612 6 147503891 CATGGA C 387 PASS - - - - - Del - D 147503891 147503900 5 24 429.672 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 5 3 7 13 25 13 25 3 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720594496 6 152312928 GT G 420 PASS ESR1 CCDS5234.1 r.? - - Del intronic D 152312928 152312931 1 14 377.544 - - 2 1 1 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 6 1 7 3 23 14 23 14 7 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720598052 6 162791347 AT A 569 PASS PARK2 CCDS5281.1 r.? - - Del intronic D 162791347 162791357 1 35 538.746 - - 9 1 1 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 6 4 7 4 19 21 19 21 7 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720603473 7 7794468 A AT 660 PASS ENSG00000219545 ENST00000433511 r.? - - Ins intronic I 7794468 7794476 1 42 586.562 - - 7 1 1 ENSG00000219545|ENST00000433511|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000219545|ENST00000433511|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 16 0 0 ./. 6 5 10 5 33 27 34 28 10 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720604890 7 12240704 TAA T 689 PASS - - - - - Del - D 12240704 12240708 2 48 645.906 - - 3 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 7 6 13 29 33 29 33 6 13 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720643684 7 130541722 AAT A 300 PASS - - - - - Del - D 130541722 130541726 2 10 267.823 - - 1 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 1 11 3 19 13 19 13 11 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720648901 7 146862143 A AT 600 PASS CNTNAP2 CCDS5889.1 r.? - - Ins intronic I 146862143 146862145 1 36 532.636 - - 1 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 5 5 6 8 26 19 26 19 6 8 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720652786 7 157328597 GTC G 1320 PASS PTPRN2 CCDS5949.1 r.? - - Del downstream D 157328597 157328603 2 140 1182.76 - - 2 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 15 16 15 0 0 ./. 9 13 13 17 26 26 26 26 13 17 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720654264 8 2678118 C CT 389 PASS - - - - - Ins - I 2678118 2678127 1 20 373.239 - - 8 1 1 - - ./. 0 0 0 0 24 19 24 20 0 0 ./. 4 3 4 6 31 26 32 26 4 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720659521 8 16813022 CATA C 298 PASS AC079193.1 ENST00000513892 r.? - - Del intronic D 16813022 16813028 3 16 315.016 - - 1 1 1 AC079193.1|ENST00000513892|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC079193.1|ENST00000513892|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 3 3 3 21 23 21 23 3 3 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720659698 8 17302285 G GT 298 PASS - - - - - Ins - I 17302285 17302294 1 15 315.618 - - 8 1 1 - - ./. 0 0 0 0 18 14 19 14 0 0 ./. 2 4 2 5 23 30 23 30 2 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720676922 8 76610815 CT C 389 PASS - - - - - Del - D 76610815 76610818 1 20 378.055 - - 2 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 3 4 4 25 29 25 29 4 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720681005 8 90583371 ATTC A 387 PASS - - - - - Del - D 90583371 90583377 3 21 432.063 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 2 6 6 7 18 34 18 34 6 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720686488 8 108985509 T TG 480 PASS RSPO2 CCDS6307.1 r.? - - Ins intronic I 108985509 108985518 1 25 423.634 - - 8 1 1 RSPO2|CCDS6307.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RSPO2|CCDS6307.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 4 4 5 15 19 16 19 4 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720688827 8 116655578 C CA 300 PASS TRPS1 CCDS6318.2 r.? - - Ins intronic I 116655578 116655581 1 10 267.029 - - 2 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 1 6 4 30 13 30 13 6 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720690834 8 123199309 TG T 720 PASS - - - - - Del - D 123199309 123199312 1 49 646.89 - - 2 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 6 6 7 7 26 30 26 30 7 7 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720710408 9 38059379 C CA 480 PASS SHB CCDS43806.1 r.? - - Ins intronic I 38059379 38059381 1 21 427.771 - - 1 1 1 SHB|CCDS43806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SHB|CCDS43806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 10 0 0 ./. 6 2 10 4 23 15 23 15 10 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720718475 9 83155627 T TA 480 PASS - - - - - Ins - I 83155627 83155629 1 24 427.169 - - 1 1 1 - - ./. 0 0 0 0 14 11 15 11 0 0 ./. 5 3 6 4 25 23 25 23 6 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720719924 9 87605642 T TG 300 PASS NTRK2 CCDS6671.1 r.? - - Ins intronic I 87605642 87605647 1 12 267.357 - - 4 1 1 NTRK2|CCDS6671.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NTRK2|CCDS6671.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 3 4 23 21 24 21 3 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720728871 9 116330364 TATAG T 329 PASS RGS3 CCDS43869.1 r.? - - Del intronic D 116330364 116330382 4 16 322.032 - - 4 1 1 RGS3|CCDS43869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS3|CCDS43869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 3 6 4 23 17 23 17 7 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720731891 9 126221831 AT A 300 PASS DENND1A CCDS35133.1 r.? - - Del intronic D 126221831 126221833 1 10 269.163 - - 1 1 1 DENND1A|CCDS35133.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DENND1A|CCDS35133.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 1 4 1 20 21 20 21 4 1 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720736439 9 138524454 AC A 389 PASS GLT6D1 CCDS43900.1 r.? - - Del intronic D 138524454 138524456 1 20 378.514 - - 1 1 1 GLT6D1|CCDS43900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLT6D1|CCDS43900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 3 4 3 6 16 25 16 25 3 6 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720738538 X 7022946 GT G 300 PASS HDHD1A CCDS48075.1 r.? - - Del intronic D 7022946 7022955 1 12 268.417 - - 8 1 1 HDHD1A|CCDS48075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HDHD1A|CCDS48075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 3 2 4 2 25 18 25 18 4 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720744069 X 35988480 A AT 300 PASS CXorf22 CCDS14237.2 r.? - - Ins intronic I 35988480 35988490 1 12 267.815 - - 9 1 1 CXorf22|CCDS14237.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CXorf22|CCDS14237.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 19 20 19 0 0 ./. 3 2 3 2 27 17 27 19 3 2 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720747318 X 54026131 CAGAA C 478 PASS PHF8 CCDS14355.1 r.? - - Del intronic D 54026131 54026143 4 30 487.486 - - 2 1 1 PHF8|CCDS14355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHF8|CCDS14355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 21 10 21 0 0 ./. 5 4 6 5 12 17 12 17 6 5 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720752035 X 83849856 TA T 329 PASS - - - - - Del - D 83849856 83849866 1 16 324.99 - - 9 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 3 3 7 4 22 15 22 15 7 4 1 1 1 1 1 1 1 1 2662672 PD18170a PD18170b 2720760837 X 127380739 AG A 360 PASS - - - - - Del - D 127380739 127380741 1 15 324.99 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 2 5 4 17 14 17 14 5 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714431792 1 5011116 G GT 720 PASS - - - - - Ins - I 5011116 5011126 1 48 638.05 - - 9 1 1 - - ./. 0 0 0 0 8 7 9 7 0 0 ./. 7 5 10 5 24 21 25 21 10 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714442962 1 35535545 A ATG 540 PASS ZMYM1 ENST00000417119 r.? - - Ins intronic I 35535545 35535557 2 30 473.119 - - 5 1 1 ZMYM1|ENST00000417119|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZMYM1|ENST00000417119|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 4 5 5 9 28 35 28 35 5 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714443770 1 37944183 AG A 600 PASS ZC3H12A CCDS417.1 r.? - - Del intronic D 37944183 37944187 1 27 537.729 - - 3 1 1 ZC3H12A|CCDS417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZC3H12A|CCDS417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 8 2 10 3 20 10 20 10 10 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714444868 1 40805511 CT C 420 PASS - - - - - Del - D 40805511 40805515 1 14 374.002 - - 3 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 6 1 11 2 20 16 20 16 11 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714447954 1 51299074 T TG 660 PASS FAF1 CCDS554.1 r.? - - Ins intronic I 51299074 51299080 1 30 574.644 - - 5 1 1 FAF1|CCDS554.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAF1|CCDS554.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 9 4 11 21 28 21 29 4 11 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714448270 1 52357639 C CA 480 PASS - - - - - Ins - I 52357639 52357648 1 24 425.367 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 5 5 10 25 34 25 34 5 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714454731 1 72858949 TC T 660 PASS - - - - - Del - D 72858949 72858951 1 40 590.297 - - 1 1 1 - - ./. 0 0 0 0 1 11 1 11 0 0 ./. 4 7 7 8 23 30 23 30 7 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714456321 1 77913479 CAA C 720 PASS AK5 CCDS676.1 r.? - - Del intronic D 77913479 77913483 2 33 645.274 - - 3 1 1 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 10 5 17 17 31 17 31 5 17 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714458410 1 84322147 C CT 900 PASS - - - - - Ins - I 84322147 84322157 1 70 796.358 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 9 6 12 10 35 29 35 30 12 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714464086 1 102244022 AT A 300 PASS - - - - - Del - D 102244022 102244032 1 12 267.058 - - 9 1 1 - - ./. 0 0 0 0 10 2 10 2 0 0 ./. 3 2 4 5 22 18 22 18 4 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714469969 1 121312413 AC A 598 PASS - - - - - Del - D 121312413 121312416 1 36 591.502 - - 2 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 8 3 10 4 31 33 31 33 10 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714477508 1 160204439 AACTT A 478 PASS DCAF8 CCDS1200.1 r.? - - Del intronic D 160204439 160204447 4 28 483.956 - - 1 1 1 DCAF8|CCDS1200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCAF8|CCDS1200.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 6 4 7 17 26 17 26 4 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714482701 1 176980698 TAC T 300 PASS ASTN1 CCDS1319.1 r.? - - Del intronic D 176980698 176980718 2 6 268.262 - - 9 1 - ASTN1|CCDS1319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASTN1|CCDS1319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 0 6 0 21 12 21 12 6 0 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714484151 1 181069105 TCA T 660 PASS - - - - - Del - D 181069105 181069108 2 42 591.502 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 5 6 7 19 15 19 15 6 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714485185 1 184561866 GTGACAAAAATTACCTAACTCA G 261 PASS C1orf21 CCDS1362.1 r.? - - Del intronic D 184561866 184561889 21 30 483.354 - - 1 1 1 C1orf21|CCDS1362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf21|CCDS1362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 5 4 5 4 18 16 18 16 5 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714486599 1 188990673 CA C 480 PASS - - - - - Del - D 188990673 188990676 1 25 430.183 - - 2 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 4 4 7 29 36 29 36 4 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714486875 1 189705523 GT G 540 PASS - - - - - Del - D 189705523 189705532 1 30 483.956 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 5 4 6 27 21 27 21 4 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714487215 1 190716671 CT C 780 PASS - - - - - Del - D 190716671 190716678 1 54 699.047 - - 6 1 1 - - ./. 0 0 0 0 3 10 3 10 0 0 ./. 5 8 9 10 23 23 23 23 9 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714489061 1 196083982 A AT 360 PASS - - - - - Ins - I 196083982 196083991 1 15 318.423 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 13 0 0 ./. 2 4 3 5 23 29 23 29 3 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714496950 1 219991713 CTG C 300 PASS - - - - - Del - D 219991713 219991729 2 12 265.854 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 2 4 3 20 30 20 30 4 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714498631 1 225195228 G GA 360 PASS DNAH14 CCDS44321.1 r.1304_1305insa c.1089_1090insA p.S365fs*11 Ins frameshift I 225195228 225195233 1 15 319.025 - - 4 1 1 DNAH14|CCDS44321.1|r.1304_1305insa|c.1089_1090insA|p.S365fs*11|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 DNAH14|CCDS44321.1|r.1304_1305insa|c.1089_1090insA|p.S365fs*11|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 2 4 3 18 31 18 31 4 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714504836 1 242316501 GT G 845 PASS PLD5 CCDS1621.1 r.? - - Del intronic D 242316501 242316511 1 80 859.764 - - 9 1 1 PLD5|CCDS1621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLD5|CCDS1621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 4 6 4 0 0 ./. 7 9 13 13 26 28 26 28 13 13 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714508166 10 1859080 C CT 540 PASS - - - - - Ins - I 1859080 1859086 1 30 480.069 - - 5 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 5 4 7 4 32 22 32 22 7 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714511579 10 9920291 GC G 269 PASS - - - - - Del - D 9920291 9920296 1 12 263.093 - - 4 1 1 - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 2 3 6 3 20 15 20 15 6 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714516804 10 25002733 ATATCCATTTGT A 464 PASS ARHGAP21 CCDS7144.2 r.? - - Del intronic D 25002733 25002745 11 72 863.089 - - 1 1 1 ARHGAP21|CCDS7144.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP21|CCDS7144.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 11 5 13 5 30 17 30 17 13 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714519758 10 32160669 ACTAT A 447 PASS ARHGAP12 CCDS7170.1 r.? - - Del intronic D 32160669 32160680 4 30 485.488 - - 2 1 1 ARHGAP12|CCDS7170.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP12|CCDS7170.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 5 6 6 24 22 24 22 6 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714520979 10 35792787 TAAC T 538 PASS CCNY CCDS7189.1 r.? - - Del intronic D 35792787 35792792 3 32 539.431 - - 1 1 1 CCNY|CCDS7189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCNY|CCDS7189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 7 6 10 16 23 16 23 6 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714521584 10 37703777 TTGG T 896 PASS - - - - - Del - D 37703777 37703783 3 90 915.828 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 9 8 10 9 29 33 29 33 10 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714529083 10 62124691 A AT 300 PASS ANK3 CCDS7258.1 r.? - - Ins intronic I 62124691 62124701 1 12 266.705 - - 9 1 1 ANK3|CCDS7258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANK3|CCDS7258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 12 6 30 21 30 21 12 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714529358 10 63324214 GA G 780 PASS - - - - - Del - D 63324214 63324223 1 50 700.056 - - 8 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 9 4 15 6 28 15 28 15 15 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714529475 10 63679876 A AT 660 PASS ARID5B CCDS31208.1 r.? - - Ins intronic I 63679876 63679886 1 40 584.945 - - 9 1 1 ARID5B|CCDS31208.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARID5B|CCDS31208.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 17 11 0 0 ./. 4 7 7 8 25 31 25 31 7 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714536622 10 83856362 C CAA 420 PASS NRG3 CCDS31233.1 r.? - - Ins intronic I 83856362 83856369 2 18 368.571 - - 6 1 1 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 5 3 5 32 31 32 32 3 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714537719 10 87656352 AAATAGAAGTAGACGTGATGATCAATCAAGAAATATTAAAAGTGTTTGACTTAGCTAATAAGC A 319 PASS GRID1 CCDS31236.1 r.? - - Del intronic D 87656352 87656417 62 30 592.772 - - 1 1 1 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 9 2 0 0 22 7 31 9 9 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714539828 10 94581187 C CA 720 PASS - - - - - Ins - I 94581187 94581194 1 48 638.888 - - 6 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 5 7 10 11 23 36 23 38 10 11 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714544065 10 106643735 A AGG 269 PASS SORCS3 CCDS7558.1 r.? - - Ins intronic I 106643735 106643744 2 12 262.491 - - 8 1 1 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 8 4 8 0 0 ./. 3 2 1 0 17 30 17 30 4 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714545493 10 111215286 T TA 898 PASS - - - - - Ins - I 111215286 111215289 1 81 845.027 - - 2 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 8 8 11 9 22 21 22 22 11 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714551775 10 129908646 ACT A 600 PASS MKI67 CCDS7659.1 r.2786_2787delAG c.2410_2411delAG p.S804fs*18 Del frameshift D 129908646 129908653 2 36 538.227 - - 3 1 1 MKI67|CCDS7659.1|r.2786_2787delAG|c.2410_2411delAG|p.S804fs*18|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 MKI67|CCDS7659.1|r.2786_2787delAG|c.2410_2411delAG|p.S804fs*18|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 5 6 5 24 27 24 27 6 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714562210 11 27895721 GTTGT G 484 PASS - - - - - Del - D 27895721 27895730 4 32 541.089 - - 2 1 1 - - ./. 0 0 0 0 4 16 4 16 0 0 ./. 3 7 5 7 16 15 16 15 5 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714564868 11 37463747 G GA 389 PASS - - - - - Ins - I 37463747 37463755 1 20 374.547 - - 7 1 1 - - ./. 0 0 0 0 3 22 3 22 0 0 ./. 4 3 4 4 17 17 17 17 4 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714567413 11 45618524 T TG 420 PASS - - - - - Ins - I 45618524 45618532 1 18 372.741 - - 7 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 5 9 5 24 15 24 15 9 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714579101 11 88849780 AG A 389 PASS - - - - - Del - D 88849780 88849788 1 20 378.762 - - 7 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 3 4 4 5 18 22 18 22 4 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714588421 11 119604291 CAG C 840 PASS PVRL1 CCDS8426.1 r.? - - Del upstream D 119604291 119604295 2 64 752.707 - - 1 1 1 PVRL1|CCDS8426.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PVRL1|CCDS8426.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 7 10 8 17 16 17 16 10 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714589214 11 122865690 GA G 749 PASS - - - - - Del - D 122865690 122865696 1 54 701.609 - - 5 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 8 5 9 7 15 15 15 15 9 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714589504 11 123831924 A AT 480 PASS - - - - - Ins - I 123831924 123831933 1 24 426.85 - - 8 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 3 8 5 19 12 19 12 8 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714589950 11 125500972 G GA 540 PASS CHEK1 CCDS8459.1 r.? - - Ins intronic I 125500972 125500980 1 28 481.561 - - 7 1 1 CHEK1|CCDS8459.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHEK1|CCDS8459.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 6 5 8 23 31 23 31 5 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714600312 12 20799550 TG T 480 PASS PDE3A CCDS31754.1 r.? - - Del intronic D 20799550 20799552 1 25 432.34 - - 1 1 1 PDE3A|CCDS31754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE3A|CCDS31754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 4 5 4 24 29 24 29 5 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714603528 12 29487951 AG A 360 PASS FAR2 CCDS8717.1 r.? - - Del downstream D 29487951 29487953 1 16 324.255 - - 1 1 1 FAR2|CCDS8717.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FAR2|CCDS8717.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 4 8 4 8 0 0 ./. 3 3 4 5 20 23 20 23 4 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714606580 12 41152113 TA T 689 PASS - - - - - Del - D 41152113 41152116 1 45 644.898 - - 2 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 8 11 13 30 30 30 30 11 13 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714606910 12 41985715 GA G 360 PASS - - - - - Del - D 41985715 41985718 1 7 323.653 - - 2 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 0 6 1 7 18 20 18 20 1 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714610158 12 51744206 CTTGT C 420 PASS GALNT6 CCDS8813.1 r.? - - Del downstream D 51744206 51744225 4 18 378.298 - - 4 1 1 GALNT6|CCDS8813.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CELA1|CCDS8812.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 5 6 9 17 19 17 19 6 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714615133 12 67231045 TTAGAG T 412 PASS - - - - - Del - D 67231045 67231053 5 40 594.468 - - 1 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 4 7 3 7 17 22 18 22 4 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714616091 12 69974934 A AT 780 PASS FRS2 CCDS41809.1 r.? - - Ins downstream I 69974934 69974937 1 50 694.726 - - 2 1 1 FRS2|CCDS41809.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CCT2|CCDS8991.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 9 10 12 21 27 21 27 10 12 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714617700 12 75498586 T TA 689 PASS KCNC2 CCDS9005.1 r.? - - Ins intronic I 75498586 75498588 1 49 636.469 - - 1 1 1 KCNC2|CCDS9005.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNC2|CCDS9005.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 6 6 9 8 26 24 26 24 9 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714620514 12 85491720 AG A 600 PASS LRRIQ1 CCDS41816.1 r.? - - Del intronic D 85491720 85491723 1 35 540.426 - - 2 1 1 LRRIQ1|CCDS41816.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRIQ1|CCDS41816.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 4 7 6 27 25 27 25 7 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714620549 12 85641916 TATA T 592 PASS LRRIQ1 CCDS41816.1 r.? - - Del downstream D 85641916 85641926 3 45 648.511 - - 3 1 1 LRRIQ1|CCDS41816.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LRRIQ1|CCDS41816.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 4 10 4 0 0 ./. 4 8 7 9 17 26 17 27 7 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714622959 12 93997960 C CA 480 PASS - - - - - Ins - I 93997960 93997968 1 21 427.524 - - 7 1 - - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 6 2 7 4 33 30 33 30 7 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714626270 12 103409358 TTCTC T 358 PASS - - - - - Del - D 103409358 103409366 4 18 373.481 - - 3 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 5 5 5 23 19 23 19 5 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714630192 12 116397572 ATG A 660 PASS MED13L CCDS9177.1 r.8337_8338delCA c.? p.? Del 3'UTR variant D 116397572 116397576 2 42 592.662 - - 1 1 1 MED13L|CCDS9177.1|r.8337_8338delCA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 MED13L|CCDS9177.1|r.8337_8338delCA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 14 9 14 0 0 ./. 5 6 8 7 24 24 24 24 8 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714634778 12 127947823 TTTG T 360 PASS - - - - - Del - D 127947823 127947838 3 15 324.255 - - 4 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 4 5 8 26 22 26 22 5 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714642074 13 35700672 G GA 929 PASS NBEA CCDS45026.1 r.? - - Ins intronic I 35700672 35700681 1 81 854.949 - - 8 1 1 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NBEA|CCDS45026.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 8 8 8 14 11 24 11 25 8 14 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714642524 13 37781685 T TA 420 PASS - - - - - Ins - I 37781685 37781687 1 20 374.417 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 3 5 3 6 5 6 5 5 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714645081 13 48039044 T TA 420 PASS - - - - - Ins - I 48039044 48039051 1 18 375.621 - - 6 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 2 8 3 18 14 18 14 8 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714650948 13 71223922 TAA T 480 PASS - - - - - Del - D 71223922 71223927 2 9 434.097 - - 4 1 1 - - ./. 0 0 0 0 0 11 0 11 0 0 ./. 0 8 0 12 5 21 5 21 0 12 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714653115 13 78936714 A AT 300 PASS - - - - - Ins - I 78936714 78936721 1 10 268.301 - - 6 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 1 4 4 4 20 25 21 25 4 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714656336 13 89508758 CAT C 540 PASS - - - - - Del - D 89508758 89508762 2 30 488.359 - - 1 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 4 6 5 28 25 28 25 6 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714660857 13 102360046 C CA 480 PASS ITGBL1 CCDS9499.1 r.? - - Ins intronic I 102360046 102360054 1 24 428.679 - - 7 1 1 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITGBL1|CCDS9499.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 8 5 8 0 0 ./. 3 5 3 6 21 24 21 24 3 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714668560 14 29276253 G GAC 420 PASS - - - - - Ins - I 29276253 29276273 2 20 370.319 - - 9 1 - - - ./. 0 0 0 0 3 13 3 13 0 0 ./. 3 4 5 8 27 29 28 30 5 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714671449 14 37871292 TAA T 600 PASS MIPOL1 CCDS9664.1 r.? - - Del intronic D 37871292 37871295 2 32 542.788 - - 2 1 1 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIPOL1|CCDS9664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 7 7 10 19 27 19 27 7 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714671497 14 38058565 AACG A 569 PASS FOXA1 CCDS9665.1 r.? - - Del downstream D 38058565 38058571 3 35 542.788 - - 1 1 1 FOXA1|CCDS9665.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FOXA1|CCDS9665.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 13 8 13 0 0 ./. 6 4 6 5 26 27 26 27 6 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714674540 14 47560760 TA T 480 PASS MDGA2 CCDS41948.1 r.? - - Del intronic D 47560760 47560766 1 25 434.231 - - 5 1 1 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 4 4 5 5 27 18 27 18 5 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714689467 14 102620562 G GT 269 PASS WDR20 CCDS9968.1 r.? - - Ins intronic I 102620562 102620564 1 12 268.384 - - 1 1 1 WDR20|CCDS9968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR20|CCDS9968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 2 3 3 3 11 11 12 11 3 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714691361 15 20854636 TTTCA T 389 PASS - - - - - Del - D 20854636 20854645 4 18 380.191 - - 2 1 1 - - ./. 0 0 0 0 24 9 24 9 0 0 ./. 5 2 5 3 48 21 49 21 6 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714699525 15 49026409 C CAT 300 PASS CEP152 CCDS42033.1 r.? - - Ins downstream I 49026409 49026425 2 10 265.544 - - 7 1 - CEP152|CCDS42033.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CEP152|CCDS42033.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 1 5 2 15 7 15 7 5 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714703644 15 62067429 AT A 780 PASS - - - - - Del - D 62067429 62067433 1 50 704.865 - - 3 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 9 4 10 8 26 25 26 25 10 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714707175 15 73030632 AAAGG A 298 PASS BBS4 CCDS10246.1 r.2306_2309delAAGG c.? p.? Del 3'UTR variant D 73030632 73030640 4 15 325.878 - - 1 1 1 BBS4|CCDS10246.1|r.2306_2309delAAGG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 BBS4|CCDS10246.1|r.2306_2309delAAGG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 6 4 14 16 14 16 6 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714708971 15 79019054 T TG 300 PASS - - - - - Ins - I 79019054 79019056 1 12 268.555 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 3 7 4 13 11 13 11 7 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714709784 15 81816954 A AT 300 PASS - - - - - Ins - I 81816954 81816962 1 10 268.555 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 1 4 1 5 21 12 21 12 1 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714711137 15 86927057 C CT 420 PASS AGBL1 ENST00000421325 r.? - - Ins intronic I 86927057 86927065 1 20 375.977 - - 7 1 1 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 3 6 4 19 14 19 15 6 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714719699 16 8288923 AT A 749 PASS - - - - - Del - D 8288923 8288932 1 54 703.968 - - 8 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 8 7 9 30 27 30 27 7 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714723959 16 17390033 CTGCGGT CA 551 PASS XYLT1 CCDS10569.1 r.? - - Complex intronic DI 17390034 17390039 6 104 0 - - 0 1 1 XYLT1|CCDS10569.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 XYLT1|CCDS10569.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 7 12 0 0 14 30 15 30 7 12 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714736963 16 62974495 CA C 420 PASS - - - - - Del - D 62974495 62974504 1 20 379.384 - - 8 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 3 5 4 17 14 17 14 5 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714737965 16 68004466 AAAAC A 449 PASS SLC12A4 CCDS10855.1 r.? - - Del upstream D 68004466 68004486 4 24 431.173 - - 4 1 1 SLC12A4|CCDS10855.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SLC12A4|CCDS10855.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 5 3 5 9 9 9 9 3 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714747224 17 11220684 CT C 300 PASS SHISA6 CCDS45615.1 r.? - - Del intronic D 11220684 11220694 1 12 268.35 - - 9 1 1 SHISA6|CCDS45615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHISA6|CCDS45615.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 3 3 6 9 6 9 3 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714749327 17 19832567 G GA 540 PASS AKAP10 CCDS11214.1 r.? - - Ins intronic I 19832567 19832575 1 30 479.539 - - 7 1 1 AKAP10|CCDS11214.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AKAP10|CCDS11214.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 4 7 4 17 13 17 13 7 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714751225 17 26630706 A AC 540 PASS - - - - - Ins - I 26630706 26630715 1 28 481.345 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 17 0 0 ./. 3 6 5 7 13 30 13 31 5 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714761918 17 57097751 G GA 300 PASS TRIM37 CCDS32694.1 r.? - - Ins intronic I 57097751 57097761 1 12 267.748 - - 9 1 1 TRIM37|CCDS32694.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRIM37|CCDS32694.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 20 26 21 0 0 ./. 3 2 3 3 50 37 51 37 3 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714767544 17 66215843 T TTA 420 PASS - - - - - Ins - I 66215843 66215845 2 20 370.633 - - 0 1 1 - - ./. 0 0 0 0 9 10 9 11 0 0 ./. 4 3 8 4 58 53 58 54 8 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714767882 17 66665948 CAG C 660 PASS - - - - - Del - D 66665948 66665953 2 42 595.669 - - 2 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 6 7 7 50 63 50 63 7 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714769384 17 70133005 AAAT A 660 PASS - - - - - Del - D 70133005 70133009 3 40 595.669 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 7 5 10 27 37 27 37 5 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714783301 18 25975771 T TA 480 PASS - - - - - Ins - I 25975771 25975779 1 24 429.358 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 5 5 5 21 13 21 13 5 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714784780 18 30995662 TA T 337 PASS C18orf34 CCDS42424.1 r.? - - Del intronic D 30995662 30995671 1 15 325.631 - - 8 1 1 C18orf34|CCDS42424.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C18orf34|CCDS42424.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 4 3 4 16 14 16 14 3 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714784966 18 31797240 CT C 360 PASS NOL4 CCDS11907.2 r.? - - Del intronic D 31797240 31797250 1 12 325.631 - - 9 1 1 NOL4|CCDS11907.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOL4|CCDS11907.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 1 5 2 8 16 29 16 29 2 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714792521 18 56503960 AT A 509 PASS - - - - - Del - D 56503960 56503964 1 24 484.232 - - 3 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 7 6 6 15 23 15 23 6 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714809146 19 23482038 AAAAC A 420 PASS - - - - - Del - D 23482038 23482056 4 20 380.164 - - 4 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 4 6 5 23 13 23 13 6 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714809603 19 24446830 G GT 300 PASS - - - - - Ins - I 24446830 24446838 1 12 268.535 - - 7 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 2 4 2 15 10 15 10 4 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714816505 19 47890109 AAAG A 389 PASS DHX34 CCDS12700.1 r.? - - Del downstream D 47890109 47890115 3 14 373.541 - - 1 1 1 DHX34|CCDS12700.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DHX34|CCDS12700.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 17 9 17 0 0 ./. 6 1 7 2 17 12 18 12 8 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714820606 19 58008867 TAAG T 480 PASS ZNF419 CCDS46211.1 r.? - - Del downstream D 58008867 58008873 3 24 434.473 - - 1 1 1 ZNF419|CCDS46211.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF773|CCDS33134.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 3 5 5 25 16 25 17 5 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714831885 2 34840181 A AG 360 PASS - - - - - Ins - I 34840181 34840182 1 15 318.091 - - 0 1 1 - - ./. 0 0 0 0 16 16 17 16 0 0 ./. 4 2 5 5 14 24 14 24 5 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714834191 2 41646237 C CA 360 PASS - - - - - Ins - I 41646237 41646239 1 16 319.295 - - 1 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 3 3 4 3 19 18 19 19 4 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714834658 2 43029775 C CA 360 PASS - - - - - Ins - I 43029775 43029784 1 12 319.295 - - 8 1 1 - - ./. 0 0 0 0 13 16 13 17 0 0 ./. 5 1 6 1 41 26 41 26 6 1 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714838803 2 56883776 A AT 420 PASS - - - - - Ins - I 56883776 56883784 1 18 372.511 - - 7 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 5 3 8 24 41 24 41 3 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714838986 2 57535524 A ACCATC 259 PASS - - - - - Ins - I 57535524 57535530 5 32 508.077 - - 1 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 7 3 7 3 25 24 26 24 8 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714840783 2 63463520 TA T 360 PASS C2orf86 CCDS42688.1 r.? - - Del intronic D 63463520 63463525 1 16 322.908 - - 4 1 1 C2orf86|CCDS42688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C2orf86|CCDS42688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 3 3 4 5 12 19 12 19 4 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714845350 2 78713252 CA C 757 PASS - - - - - Del - D 78713252 78713254 1 54 699.634 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 8 5 14 7 27 11 27 11 14 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714848503 2 89844482 ATGGAATCATC A 261 PASS - - - - - Del - D 89844482 89844494 10 18 484.362 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 8 1 0 0 70 38 70 39 8 1 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714852845 2 106381044 TCAAAGTGCAAA TCAAAG 261 PASS NCK2 CCDS33266.1 r.? - - Complex intronic DI 106381045 106381055 11 30 0 - - 0 1 1 NCK2|CCDS33266.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 NCK2|CCDS33266.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 4 0 0 17 10 17 11 5 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714853284 2 107684015 CT C 420 PASS - - - - - Del - D 107684015 107684023 1 18 376.726 - - 7 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 5 6 5 26 26 26 26 6 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714853505 2 108604333 GT G 300 PASS SLC5A7 CCDS2074.1 r.? - - Del intronic D 108604333 108604343 1 12 269.09 - - 9 1 1 SLC5A7|CCDS2074.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC5A7|CCDS2074.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 3 3 5 19 27 19 27 3 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714854030 2 110276667 TGTATTTTTA T 330 PASS - - - - - Del - D 110276667 110276680 9 40 644.611 - - 1 1 1 - - ./. 0 0 0 0 9 3 9 3 0 0 ./. 9 3 9 3 22 14 22 14 9 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714854088 2 110406500 A AAT 360 PASS - - - - - Ins - I 110406500 110406501 2 12 309.662 - - 0 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 1 5 2 6 13 20 13 22 2 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714856151 2 118560259 GT G 720 PASS - - - - - Del - D 118560259 118560261 1 45 644.009 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 8 4 9 13 24 13 24 4 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714860106 2 131623958 G GA 569 PASS ARHGEF4 ENST00000409359 r.? - - Ins intronic I 131623958 131623967 1 35 523.128 - - 8 1 1 ARHGEF4|ENST00000409359|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ARHGEF4|ENST00000409359|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 6 8 7 19 28 19 28 8 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714860115 2 131663162 GC G 480 PASS ARHGEF4 ENST00000409359 r.? - - Del intronic D 131663162 131663170 1 16 428.135 - - 7 1 1 ARHGEF4|ENST00000409359|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ARHGEF4|ENST00000409359|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 1 7 4 7 17 19 17 19 4 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714864751 2 145333135 C CT 360 PASS - - - - - Ins - I 145333135 145333144 1 15 314.479 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 4 5 4 21 21 21 21 5 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714865055 2 146437829 G GA 840 PASS - - - - - Ins - I 146437829 146437837 1 60 745.023 - - 7 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 5 9 7 12 22 26 23 26 7 12 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714876195 2 182225252 CT C 420 PASS - - - - - Del - D 182225252 182225256 1 20 376.726 - - 3 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 4 3 7 3 27 23 27 23 7 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714877698 2 187489096 C CT 420 PASS ITGAV CCDS2292.1 r.? - - Ins intronic I 187489096 187489100 1 20 372.511 - - 3 1 1 ITGAV|CCDS2292.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITGAV|CCDS2292.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 4 4 6 27 31 27 31 4 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714878263 2 189356264 GA G 840 PASS GULP1 CCDS2295.1 r.? - - Del intronic D 189356264 189356268 1 60 753.452 - - 3 1 1 GULP1|CCDS2295.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GULP1|CCDS2295.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 9 13 13 32 32 32 32 13 13 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714883494 2 206272533 GA G 420 PASS PARD3B CCDS42806.1 r.? - - Del intronic D 206272533 206272543 1 20 376.726 - - 9 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 4 4 7 18 39 18 39 4 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714886095 2 214381571 G GA 629 PASS SPAG16 CCDS2396.1 r.? - - Ins intronic I 214381571 214381578 1 42 585.375 - - 6 1 1 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 6 5 9 6 20 20 20 20 9 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714891535 2 230683169 GA G 300 PASS TRIP12 CCDS33391.1 r.1544delU c.1365delT p.Q456fs*30 Del frameshift D 230683169 230683172 1 12 269.09 - - 2 1 1 TRIP12|CCDS33391.1|r.1544delU|c.1365delT|p.Q456fs*30|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 TRIP12|CCDS33391.1|r.1544delU|c.1365delT|p.Q456fs*30|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 3 3 3 18 24 18 24 3 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714892006 2 231956044 C CT 360 PASS PSMD1 CCDS2482.1 r.? - - Ins intronic I 231956044 231956047 1 15 318.693 - - 2 1 1 PSMD1|CCDS2482.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PSMD1|CCDS2482.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 2 5 3 19 16 19 16 5 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714892528 2 233547573 T TA 720 PASS EFHD1 CCDS2497.1 r.? - - Ins downstream I 233547573 233547575 1 48 637.387 - - 1 1 1 EFHD1|CCDS2497.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 EFHD1|CCDS2497.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 11 11 11 11 0 0 ./. 7 5 9 9 26 25 26 25 9 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714893669 2 236861254 T TA 300 PASS AGAP1 CCDS33408.1 r.? - - Ins intronic I 236861254 236861263 1 10 261.865 - - 8 1 1 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 12 22 12 0 0 ./. 4 1 4 3 17 29 17 29 4 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714893812 2 237384240 TA T 660 PASS IQCA1 CCDS46549.1 r.? - - Del intronic D 237384240 237384242 1 42 591.998 - - 1 1 1 IQCA1|CCDS46549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IQCA1|CCDS46549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 6 5 8 7 30 19 30 19 8 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714895430 2 243018144 AC A 840 PASS - - - - - Del - D 243018144 243018146 1 55 752.247 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 10 4 11 5 17 26 17 26 11 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714898432 20 6518178 TG T 600 PASS - - - - - Del - D 6518178 6518181 1 27 542.808 - - 2 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 8 2 12 4 34 22 34 22 12 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714899906 20 10879574 TGA T 300 PASS - - - - - Del - D 10879574 10879589 2 6 271.404 - - 7 1 - - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 0 5 0 44 25 44 25 5 0 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714902425 20 17949497 GC G 600 PASS SNX5 CCDS13130.1 r.126delG c.? p.? Del 5'UTR variant D 17949497 17949499 1 35 539.798 - - 1 1 1 SNX5|CCDS13130.1|r.126delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 SNX5|CCDS13130.1|r.126delG|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 18 9 18 9 0 0 ./. 4 6 7 7 24 23 24 23 7 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714903818 20 21784817 CGT C 300 PASS - - - - - Del - D 21784817 21784836 2 12 270.802 - - 9 1 - - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 2 3 2 3 24 31 24 31 2 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714906832 20 29930732 CT C 627 PASS - - - - - Del - D 29930732 29930741 1 45 651.37 - - 8 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 8 4 11 5 37 34 37 34 11 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714912757 20 45273076 A AT 300 PASS SLC13A3 CCDS42886.1 r.? - - Ins intronic I 45273076 45273086 1 12 268.394 - - 9 1 1 SLC13A3|CCDS42886.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SLC13A3|CCDS42886.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 2 3 2 35 30 35 31 3 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714914579 20 49270711 C CT 660 PASS FAM65C CCDS13431.2 r.? - - Ins intronic I 49270711 49270721 1 42 586.252 - - 9 1 1 FAM65C|CCDS13431.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FAM65C|CCDS13431.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 6 12 9 37 22 37 22 12 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714916793 20 53918612 G GA 569 PASS - - - - - Ins - I 53918612 53918620 1 35 534.981 - - 7 1 - - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 4 7 4 31 37 31 37 7 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714918581 20 58952551 A AT 780 PASS - - - - - Ins - I 58952551 58952560 1 50 696.017 - - 8 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 4 9 10 10 35 40 35 40 10 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714921980 21 10733726 CAAAAAGAATATTTCCAAACTGCTTCATCA CAAAGAGTATTTACAAACTGCTCAATCA 261 PASS - - - - - Complex - DI 10733727 10733755 29 18 0 - - 0 1 1 - - ./. 0 0 0 0 45 35 45 37 0 0 ./. 8 1 0 0 111 83 111 96 8 1 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714924631 21 19192347 G GT 660 PASS C21orf91 CCDS42907.1 r.? - - Ins upstream I 19192347 19192356 1 40 592.34 - - 8 1 1 C21orf91|CCDS42907.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 CHODL|ENST00000427223|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 7 9 9 21 26 21 26 9 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714926134 21 22832544 AT A 600 PASS NCAM2 CCDS42910.1 r.? - - Del intronic D 22832544 22832548 1 35 543.909 - - 3 1 1 NCAM2|CCDS42910.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCAM2|CCDS42910.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 12 3 12 0 0 ./. 6 4 8 8 23 17 23 17 8 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714936447 22 17763889 GT G 749 PASS - - - - - Del - D 17763889 17763898 1 56 709.704 - - 8 1 - - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 7 6 10 6 18 20 18 20 10 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714946515 22 48613203 CT C 360 PASS - - - - - Del - D 48613203 48613208 1 12 327.834 - - 4 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 1 5 1 8 9 24 9 24 1 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714951260 3 10167774 C CA 569 PASS - - - - - Ins - I 10167774 10167782 1 32 531.531 - - 7 1 1 - - ./. 0 0 0 0 8 12 8 13 0 0 ./. 3 7 8 11 18 30 19 30 8 11 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714954971 3 21483631 GA G 420 PASS ZNF385D CCDS2636.1 r.? - - Del intronic D 21483631 21483635 1 18 377.55 - - 3 1 1 ZNF385D|CCDS2636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF385D|CCDS2636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 5 2 6 2 32 29 32 29 6 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714956872 3 27484983 G GT 300 PASS SLC4A7 CCDS33721.1 r.? - - Ins intronic I 27484983 27484993 1 10 266.668 - - 9 1 1 SLC4A7|CCDS33721.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC4A7|CCDS33721.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 4 15 4 0 0 ./. 4 1 4 1 29 23 29 23 4 1 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714958383 3 32150236 AT A 900 PASS GPD1L CCDS33729.1 r.? - - Del intronic D 32150236 32150242 1 70 806.628 - - 5 1 1 GPD1L|CCDS33729.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPD1L|CCDS33729.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 9 6 12 8 22 27 22 27 12 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714963665 3 49763221 C CT 840 PASS IP6K1 CCDS33760.1 r.2961_2962insa c.? p.? Ins 3'UTR variant I 49763221 49763223 1 63 744.865 - - 1 1 1 IP6K1|CCDS33760.1|r.2961_2962insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 IP6K1|CCDS33760.1|r.2961_2962insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 13 11 13 12 0 0 ./. 6 8 12 10 15 14 15 14 12 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714967018 3 62036252 AG A 1080 PASS PTPRG CCDS2895.1 r.? - - Del intronic D 62036252 62036255 1 96 970.241 - - 2 1 1 PTPRG|CCDS2895.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRG|CCDS2895.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 7 11 9 17 11 18 11 18 9 17 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714968467 3 67691325 GT G 360 PASS SUCLG2 CCDS43104.1 r.? - - Del intronic D 67691325 67691331 1 15 323.614 - - 5 1 1 SUCLG2|CCDS43104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUCLG2|CCDS43104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 2 4 5 8 18 19 18 19 5 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714977926 3 105919284 CATA C 300 PASS - - - - - Del - D 105919284 105919292 3 10 269.679 - - 2 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 1 4 1 4 22 20 22 20 1 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714980056 3 113484773 C CA 300 PASS ATP6V1A CCDS2976.1 r.? - - Ins intronic I 113484773 113484783 1 12 261.852 - - 9 1 1 ATP6V1A|CCDS2976.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ATP6V1A|CCDS2976.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 3 2 32 30 32 30 3 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714980774 3 115966678 TC T 300 PASS LSAMP CCDS2982.1 r.? - - Del intronic D 115966678 115966680 1 12 269.679 - - 1 1 1 LSAMP|CCDS2982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LSAMP|CCDS2982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 3 3 17 12 17 12 3 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714986081 3 137554325 TA T 1020 PASS - - - - - Del - D 137554325 137554334 1 84 915.101 - - 8 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 6 11 8 14 16 17 16 17 8 14 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714988882 3 148556025 ACT A 360 PASS CPB1 CCDS33874.1 r.? - - Del intronic D 148556025 148556030 2 15 323.614 - - 2 1 1 CPB1|CCDS33874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPB1|CCDS33874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 2 4 2 14 16 14 16 4 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714989574 3 151115890 G GT 960 PASS MED12L CCDS33876.1 r.? - - Ins intronic I 151115890 151115892 1 80 853.339 - - 1 1 1 MED12L|CCDS33876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MED12L|CCDS33876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 3 9 3 0 0 ./. 7 9 8 10 12 18 12 21 8 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2714996270 3 178406611 AG A 360 PASS KCNMB2 CCDS3223.1 r.? - - Del intronic D 178406611 178406613 1 15 323.614 - - 1 1 1 KCNMB2|CCDS3223.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KCNMB2|CCDS3223.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 2 6 3 16 23 16 23 6 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715003892 4 6055360 TA T 300 PASS JAKMIP1 CCDS47005.1 r.? - - Del intronic D 6055360 6055366 1 10 269.683 - - 5 1 1 JAKMIP1|CCDS47005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JAKMIP1|CCDS47005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 1 5 2 33 22 33 22 5 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715005856 4 11929583 AC A 749 PASS - - - - - Del - D 11929583 11929586 1 56 701.175 - - 2 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 7 6 11 7 24 22 24 22 11 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715006984 4 15697136 CG C 300 PASS - - - - - Del - D 15697136 15697142 1 12 269.683 - - 5 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 2 3 5 3 15 25 15 25 5 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715011338 4 28945142 ATC A 449 PASS - - - - - Del - D 28945142 28945150 2 24 429.084 - - 3 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 3 6 6 25 34 25 34 6 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715012298 4 32103494 TA T 300 PASS - - - - - Del - D 32103494 32103502 1 12 269.683 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 6 5 22 18 22 18 6 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715012512 4 32579461 TTTAA T 329 PASS - - - - - Del - D 32579461 32579473 4 12 323.619 - - 2 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 1 5 1 5 10 15 10 15 1 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715020374 4 57883426 C CT 300 PASS POLR2B CCDS3511.1 r.? - - Ins intronic I 57883426 57883429 1 10 266.672 - - 2 1 1 POLR2B|CCDS3511.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 POLR2B|CCDS3511.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 3 10 3 0 0 ./. 4 1 5 2 15 12 15 12 5 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715020378 4 57894672 CTATT C 420 PASS POLR2B CCDS3511.1 r.? - - Del intronic D 57894672 57894682 4 20 375.75 - - 2 1 1 POLR2B|CCDS3511.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POLR2B|CCDS3511.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 4 3 4 18 27 18 27 3 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715022446 4 64328615 GATAA G 507 PASS - - - - - Del - D 64328615 64328630 4 35 535.753 - - 3 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 6 4 6 4 18 21 18 21 6 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715027457 4 80879149 TG T 480 PASS ANTXR2 CCDS47085.1 r.? - - Del intronic D 80879149 80879151 1 24 431.492 - - 1 1 1 ANTXR2|CCDS47085.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANTXR2|CCDS47085.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 5 3 7 7 18 21 18 21 7 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715031652 4 96024398 ACTT A 569 PASS BMPR1B CCDS3642.1 r.? - - Del upstream D 96024398 96024404 3 20 539.365 - - 1 1 1 BMPR1B|CCDS3642.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 BMPR1B|CCDS3642.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 9 1 9 5 23 23 23 23 9 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715036586 4 116184918 G GT 720 PASS - - - - - Ins - I 116184918 116184927 1 49 640.014 - - 8 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 6 6 11 8 17 22 17 22 11 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715041306 4 132958364 TC T 360 PASS - - - - - Del - D 132958364 132958366 1 15 323.619 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 4 3 5 14 15 14 15 3 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715043780 4 141630570 TG T 389 PASS TBC1D9 CCDS47136.1 r.? - - Del intronic D 141630570 141630572 1 8 375.75 - - 1 1 1 TBC1D9|CCDS47136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D9|CCDS47136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 7 0 7 2 21 9 21 9 7 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715044207 4 143394508 TTAATG T 418 PASS INPP4B CCDS47112.1 r.? - - Del intronic D 143394508 143394516 5 21 431.492 - - 1 1 1 INPP4B|CCDS47112.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 INPP4B|ENST00000508116|r.56_60delCAUUA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 6 3 6 15 27 15 27 3 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715044838 4 145765774 AC A 960 PASS - - - - - Del - D 145765774 145765778 1 77 862.985 - - 3 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 10 10 11 17 20 17 20 10 11 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715045298 4 148007619 GTCTCTACCAT G 551 PASS - - - - - Del - D 148007619 148007631 10 110 1024.79 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 10 9 13 9 23 25 23 26 13 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715054773 4 178485856 G GGT 300 PASS - - - - - Ins - I 178485856 178485875 2 12 263.662 - - 9 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 2 4 3 13 25 13 25 4 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715056412 4 182771804 G GT 300 PASS - - - - - Ins - I 182771804 182771812 1 12 266.672 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 2 4 16 20 16 20 2 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715066741 5 18960457 TGA T 300 PASS - - - - - Del - D 18960457 18960477 2 12 269.832 - - 9 1 - - - ./. 0 0 0 0 18 6 18 6 0 0 ./. 2 3 2 3 25 38 25 38 2 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715067433 5 20897719 CT C 749 PASS - - - - - Del - D 20897719 20897728 1 54 701.562 - - 8 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 8 5 10 5 22 17 22 17 10 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715068811 5 24965788 GT G 780 PASS - - - - - Del - D 24965788 24965796 1 54 699.756 - - 7 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 5 8 7 11 18 25 18 25 7 11 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715069762 5 27918648 GT G 360 PASS - - - - - Del - D 27918648 27918658 1 15 323.798 - - 9 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 4 2 6 4 28 25 28 25 6 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715072608 5 36026247 TAG T 300 PASS - - - - - Del - D 36026247 36026267 2 12 269.832 - - 9 1 - - - ./. 0 0 0 0 14 3 14 3 0 0 ./. 3 2 3 2 19 22 19 22 3 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715072784 5 36541946 C CA 360 PASS - - - - - Ins - I 36541946 36541953 1 12 320.186 - - 6 1 - - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 1 8 4 22 13 22 13 8 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715074151 5 40793252 T TA 509 PASS PRKAA1 CCDS3932.2 r.? - - Ins intronic I 40793252 40793254 1 30 480.278 - - 1 1 1 PRKAA1|CCDS3932.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKAA1|CCDS3932.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 5 4 9 7 24 26 24 26 9 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715076343 5 52887303 GT G 300 PASS NDUFS4 CCDS3960.1 r.? - - Del intronic D 52887303 52887305 1 6 268.627 - - 1 1 1 NDUFS4|CCDS3960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NDUFS4|CCDS3960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 5 0 6 0 24 13 24 13 6 0 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715076778 5 53979107 AG A 480 PASS - - - - - Del - D 53979107 53979109 1 24 431.731 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 3 9 6 31 34 31 34 9 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715078943 5 60788781 TC T 420 PASS ZSWIM6 CCDS47215.1 r.? - - Del intronic D 60788781 60788783 1 18 363.315 - - 1 1 1 ZSWIM6|CCDS47215.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZSWIM6|CCDS47215.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 2 11 3 32 22 32 22 11 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715079016 5 61176151 AT A 540 PASS - - - - - Del - D 61176151 61176160 1 30 485.697 - - 8 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 5 4 8 6 25 19 25 19 8 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715081059 5 67586820 TTGAC T 720 PASS PIK3R1 CCDS3993.1 r.? - - Del intronic D 67586820 67586827 4 48 647.596 - - 1 1 1 PIK3R1|CCDS3993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIK3R1|CCDS3993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 3 8 3 0 0 ./. 5 7 6 10 21 24 21 24 6 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715081447 5 68658572 TCAAA T 960 PASS TAF9 CCDS4001.1 r.? - - Del intronic D 68658572 68658589 4 80 861.655 - - 4 1 1 TAF9|CCDS4001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TAF9|CCDS4001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 7 9 8 10 19 22 19 22 8 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715083956 5 77795142 ACT A 360 PASS LHFPL2 CCDS4042.1 r.? - - Del intronic D 77795142 77795147 2 15 323.798 - - 2 1 1 LHFPL2|CCDS4042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHFPL2|CCDS4042.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 4 2 7 11 22 11 22 2 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715087398 5 88406419 AG A 300 PASS - - - - - Del - D 88406419 88406421 1 6 259.597 - - 1 1 - - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 0 6 0 28 21 28 21 6 0 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715088275 5 92146381 C CT 509 PASS - - - - - Ins - I 92146381 92146391 1 24 480.278 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 2 7 5 25 32 26 33 7 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715088867 5 94736529 AGGTTGAAGTTAGCTTGTGACAGA ATAGAACTT 348 PASS FAM81B CCDS43341.1 r.? - - Complex intronic DI 94736530 94736552 23 48 0 - - 0 1 1 FAM81B|CCDS43341.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 FAM81B|CCDS43341.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 5 5 5 5 0 0 ./. 7 5 0 0 17 11 17 11 7 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715099143 5 129557154 TG T 660 PASS - - - - - Del - D 129557154 129557160 1 42 589.415 - - 5 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 5 6 7 7 19 37 19 37 7 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715108220 5 161386751 CA C 600 PASS - - - - - Del - D 161386751 161386753 1 27 539.663 - - 1 1 1 - - ./. 0 0 0 0 10 4 10 4 0 0 ./. 8 2 13 7 28 17 28 17 13 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715108944 5 163304811 GA G 360 PASS - - - - - Del - D 163304811 163304815 1 15 323.798 - - 3 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 4 3 6 22 20 22 20 3 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715111196 5 170725488 GT G 420 PASS RANBP17 CCDS34287.1 r.? - - Del intronic D 170725488 170725495 1 18 376.56 - - 6 1 1 RANBP17|CCDS34287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RANBP17|CCDS34287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 5 2 7 2 17 18 17 18 7 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715112132 5 173380743 TC T 300 PASS CPEB4 CCDS4390.1 r.? - - Del intronic D 173380743 173380745 1 6 267.423 - - 1 1 1 CPEB4|CCDS4390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPEB4|CCDS4390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 5 0 5 1 35 24 35 24 5 1 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715120284 6 16309211 AC A 420 PASS ATXN1 CCDS34342.1 r.? - - Del intronic D 16309211 16309213 1 14 377.721 - - 1 1 1 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 1 6 1 6 6 18 6 18 1 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715122453 6 22577750 AT A 780 PASS - - - - - Del - D 22577750 22577760 1 56 701.481 - - 9 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 6 7 8 9 17 16 17 16 8 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715127708 6 35842970 AC A 389 PASS SRPK1 CCDS47415.1 r.? - - Del intronic D 35842970 35842973 1 14 377.721 - - 2 1 1 SRPK1|CCDS47415.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRPK1|CCDS47415.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 6 1 6 19 21 19 21 1 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715127709 6 35848045 T TAG 420 PASS SRPK1 CCDS47415.1 r.? - - Ins intronic I 35848045 35848048 2 14 369.292 - - 1 1 1 SRPK1|CCDS47415.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SRPK1|CCDS47415.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 1 6 3 9 9 17 9 17 3 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715128405 6 38122854 C CT 600 PASS ZFAND3 CCDS4836.1 r.? - - Ins downstream I 38122854 38122858 1 36 532.978 - - 3 1 1 ZFAND3|CCDS4836.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ZFAND3|CCDS4836.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 5 15 5 15 0 0 ./. 5 5 6 6 17 15 17 15 6 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715138048 6 69108267 GAC G 600 PASS - - - - - Del - D 69108267 69108271 2 35 539.601 - - 1 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 4 10 6 23 23 23 23 10 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715143207 6 87425737 TTAAC T 658 PASS - - - - - Del - D 87425737 87425747 4 40 647.521 - - 2 1 1 - - ./. 0 0 0 0 12 4 12 4 0 0 ./. 9 3 10 3 20 13 20 13 10 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715145829 6 95853336 A AT 300 PASS - - - - - Ins - I 95853336 95853346 1 10 266.79 - - 9 1 1 - - ./. 0 0 0 0 4 14 4 14 0 0 ./. 1 4 2 5 17 20 17 20 2 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715146422 6 97724966 TC T 300 PASS C6orf167 CCDS5039.1 r.? - - Del intronic D 97724966 97724971 1 10 269.8 - - 4 1 1 C6orf167|CCDS5039.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf167|CCDS5039.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 1 4 3 5 21 19 21 19 3 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715146549 6 98204521 GT G 540 PASS - - - - - Del - D 98204521 98204531 1 30 485.641 - - 9 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 5 5 6 29 30 29 30 5 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715148152 6 103795997 G GA 300 PASS - - - - - Ins - I 103795997 103796006 1 10 266.188 - - 8 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 1 4 1 31 23 31 23 4 1 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715149030 6 106845449 GCTC G 360 PASS - - - - - Del - D 106845449 106845456 3 12 323.76 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 1 5 2 26 22 26 22 5 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715154847 6 124207872 AG A 420 PASS NKAIN2 CCDS34526.1 r.? - - Del intronic D 124207872 124207874 1 20 377.721 - - 1 1 1 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 3 4 4 5 24 23 24 23 4 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715155615 6 127319126 CT C 360 PASS - - - - - Del - D 127319126 127319130 1 15 323.76 - - 3 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 4 3 6 20 22 20 22 3 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715157352 6 133471333 GGAT G 569 PASS - - - - - Del - D 133471333 133471337 3 35 538.397 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 6 4 9 7 17 19 17 19 9 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715158038 6 135514224 C CT 540 PASS MYB CCDS47481.1 r.? - - Ins intronic I 135514224 135514226 1 28 480.222 - - 1 1 1 MYB|CCDS47481.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYB|CCDS47481.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 14 9 0 0 ./. 6 3 8 7 16 19 17 20 8 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715160796 6 146314000 C CA 540 PASS - - - - - Ins - I 146314000 146314010 1 30 477.814 - - 9 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 5 7 7 22 26 22 26 7 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715162550 6 151792626 TTGTA T 567 PASS C6orf211 CCDS5233.1 r.? - - Del downstream D 151792626 151792634 4 42 591.755 - - 1 1 1 C6orf211|CCDS5233.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C6orf211|CCDS5233.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 6 7 7 35 28 35 28 7 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715162704 6 152217798 A AT 300 PASS ESR1 CCDS5234.1 r.? - - Ins intronic I 152217798 152217808 1 12 266.79 - - 9 1 1 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 6 3 29 38 29 39 6 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715164332 6 157063024 TGTAA T 586 PASS - - - - - Del - D 157063024 157063031 4 42 593.561 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 6 7 7 24 15 24 15 7 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715166994 6 164564020 C CA 600 PASS - - - - - Ins - I 164564020 164564024 1 35 532.978 - - 3 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 6 4 6 5 31 24 32 26 6 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715167138 6 165090294 T TA 509 PASS ENSG00000237744 ENST00000425920 r.? - - Ins intronic I 165090294 165090302 1 30 479.62 - - 7 1 1 ENSG00000237744|ENST00000425920|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000237744|ENST00000425920|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 5 5 7 26 29 26 29 5 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715168321 6 168484588 TTTAC T 449 PASS FRMD1 CCDS5306.1 r.? - - Del upstream D 168484588 168484595 4 24 431.681 - - 1 1 1 FRMD1|CCDS5306.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 FRMD1|CCDS5306.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 3 4 4 15 21 16 21 5 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715169582 7 1619843 GTC G 360 PASS - - - - - Del - D 1619843 1619855 2 15 323.75 - - 5 1 - - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 4 0 1 28 38 28 38 2 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715170167 7 3128015 TG T 269 PASS - - - - - Del - D 3128015 3128020 1 12 266.781 - - 4 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 2 3 23 17 23 17 2 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715173496 7 12039380 CT C 300 PASS - - - - - Del - D 12039380 12039390 1 6 269.792 - - 9 1 1 - - ./. 0 0 0 0 15 2 15 2 0 0 ./. 5 0 6 0 24 15 24 15 6 0 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715174545 7 15048349 TG T 540 PASS - - - - - Del - D 15048349 15048351 1 10 485.625 - - 1 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 0 9 1 10 11 20 11 20 1 10 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715180871 7 34193502 G GAA 600 PASS BMPER CCDS5442.1 r.3049_3050insaa c.? p.? Ins 3'UTR variant I 34193502 34193506 2 36 526.94 - - 3 1 1 BMPER|CCDS5442.1|r.3049_3050insaa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 BMPER|CCDS5442.1|r.3049_3050insaa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 19 8 19 9 0 0 ./. 5 5 6 7 15 18 16 18 6 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715181881 7 37703423 CCT C 300 PASS - - - - - Del - D 37703423 37703440 2 12 248.117 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 2 4 4 19 18 19 18 4 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715202428 7 99547315 TATGA T 794 PASS - - - - - Del - D 99547315 99547323 4 63 755.416 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 8 6 8 7 22 22 23 22 9 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715203893 7 102988811 C CT 629 PASS PSMC2 CCDS5731.1 r.? - - Ins intronic I 102988811 102988820 1 42 583.306 - - 8 1 1 PSMC2|CCDS5731.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PSMC2|CCDS5731.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 5 6 7 8 21 26 21 26 7 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715206078 7 109692049 TTA T 780 PASS - - - - - Del - D 109692049 109692057 2 54 701.458 - - 3 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 8 5 10 6 27 23 27 23 10 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715210778 7 127030831 GTTCTAAGTAGAAC G 261 PASS ZNF800 CCDS5795.1 r.? - - Del intronic D 127030831 127030846 13 28 485.625 - - 1 1 1 ZNF800|CCDS5795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF800|CCDS5795.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 3 9 2 25 15 25 16 9 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715211686 7 129189194 AT A 269 PASS - - - - - Del - D 129189194 129189203 1 10 269.189 - - 8 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 4 1 4 3 21 27 21 27 4 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715216311 7 141900528 TC T 900 PASS ENSG00000204987 ENST00000477922 r.? - - Del intronic D 141900528 141900531 1 52 808.773 - - 2 1 1 ENSG00000204987|ENST00000477922|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000204987|ENST00000477922|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 12 6 13 26 30 26 30 6 13 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715216688 7 143545860 TTATA T 480 PASS FAM115A CCDS5886.1 r.? - - Del downstream D 143545860 143545869 4 25 431.666 - - 4 1 1 FAM115A|CCDS5886.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000170389|ENST00000307248|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 4 5 8 38 47 38 47 5 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715220251 7 153152572 CT C 600 PASS - - - - - Del - D 153152572 153152581 1 27 539.583 - - 8 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 8 2 8 3 22 12 22 12 8 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715223402 8 4094936 G GT 420 PASS - - - - - Ins - I 4094936 4094943 1 18 373.976 - - 6 1 1 - - ./. 0 0 0 0 10 17 10 19 0 0 ./. 2 5 3 9 12 16 12 16 3 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715223463 8 4315821 CT C 300 PASS - - - - - Del - D 4315821 4315831 1 12 270.136 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 5 2 8 10 8 10 5 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715223741 8 5339887 AG A 480 PASS - - - - - Del - D 5339887 5339890 1 21 431.615 - - 2 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 2 6 2 9 8 23 8 23 2 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715224516 8 8806598 C CATTT 300 PASS - - - - - Ins - I 8806598 8806627 4 6 258.095 - - 7 1 - - - ./. 0 0 0 0 15 14 16 14 0 0 ./. 0 5 0 5 17 15 17 15 0 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715230492 8 31455481 T TC 300 PASS - - - - - Ins - I 31455481 31455482 1 10 262.309 - - 0 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 4 4 5 14 17 14 17 4 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715230505 8 31483935 TG T 300 PASS - - - - - Del - D 31483935 31483939 1 10 270.136 - - 3 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 1 4 1 4 14 13 14 13 1 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715230842 8 32712625 CT C 569 PASS - - - - - Del - D 32712625 32712635 1 32 539.669 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 7 4 7 10 18 10 18 4 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715233261 8 40922257 AT A 838 PASS - - - - - Del - D 40922257 40922261 1 72 810.407 - - 3 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 8 7 13 9 35 23 35 23 13 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715234068 8 43509438 T TA 480 PASS - - - - - Ins - I 43509438 43509443 1 24 427.401 - - 4 1 1 - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 5 3 6 6 11 14 11 14 6 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715234685 8 49010134 AGAG A 538 PASS - - - - - Del - D 49010134 49010141 3 35 540.271 - - 2 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 4 6 6 7 18 22 18 22 6 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715238199 8 61370709 AGG A 540 PASS - - - - - Del - D 61370709 61370712 2 28 483.836 - - 2 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 6 3 6 3 14 13 14 13 6 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715238558 8 62576537 GTAAA G 269 PASS ASPH CCDS34898.1 r.? - - Del intronic D 62576537 62576548 4 10 263.513 - - 2 1 1 ASPH|CCDS34898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASPH|CCDS34898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 4 1 7 3 26 20 26 20 7 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715239057 8 64055366 TGAAGAAA T 268 PASS - - - - - Del - D 64055366 64055375 7 30 594.299 - - 1 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 9 2 9 1 30 15 30 16 9 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715239159 8 64424370 CT C 420 PASS - - - - - Del - D 64424370 64424380 1 20 377.588 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 3 7 3 15 19 15 19 7 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715239491 8 65919042 TTG T 609 PASS - - - - - Del - D 65919042 65919046 2 40 590.084 - - 1 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 4 7 6 9 16 18 16 18 6 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715239788 8 66688909 A AT 600 PASS PDE7A CCDS34901.1 r.? - - Ins intronic I 66688909 66688911 1 36 534.251 - - 1 1 1 PDE7A|CCDS34901.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE7A|CCDS34901.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 5 7 9 22 25 22 25 7 9 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715240419 8 68966630 C CAA 269 PASS PREX2 CCDS6201.1 r.? - - Ins intronic I 68966630 68966631 2 12 262.309 - - 0 1 1 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 3 2 0 0 23 28 23 28 3 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715241932 8 74295034 CA C 360 PASS - - - - - Del - D 74295034 74295038 1 15 324.163 - - 3 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 4 3 4 17 16 17 16 3 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715242371 8 75526872 TTTC T 718 PASS - - - - - Del - D 75526872 75526878 3 56 702.353 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 7 7 7 27 34 27 34 7 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715248090 8 94686640 A AGT 660 PASS AC011118.2 ENST00000501400 r.? - - Ins intronic I 94686640 94686647 2 42 578.645 - - 3 1 1 AC011118.2|ENST00000501400|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC011118.2|ENST00000501400|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 6 5 7 11 28 52 29 53 7 11 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715252156 8 104846565 T TC 300 PASS RIMS2 ENST00000507740 r.? - - Ins intronic I 104846565 104846566 1 10 265.921 - - 0 1 - RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 1 4 5 5 23 26 23 26 5 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715252731 8 106510437 A AT 360 PASS ZFPM2 CCDS47908.1 r.? - - Ins intronic I 106510437 106510438 1 12 320.551 - - 0 1 1 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 19 6 19 0 0 ./. 5 1 7 4 33 27 33 27 7 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715254347 8 110911409 TTC T 300 PASS - - - - - Del - D 110911409 110911425 2 12 270.136 - - 7 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 3 2 4 2 26 55 26 55 4 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715261327 8 130905783 T TA 300 PASS FAM49B CCDS6361.1 r.? - - Ins intronic I 130905783 130905793 1 12 267.125 - - 9 1 1 FAM49B|CCDS6361.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FAM49B|CCDS6361.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 9 27 9 0 0 ./. 2 3 3 3 43 27 44 27 3 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715262534 8 134727747 CCCCT C 1037 PASS - - - - - Del - D 134727747 134727753 4 168 1264.14 - - 1 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 13 11 0 2 32 28 33 28 13 13 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715263181 8 136878033 GGAATCTTTTTGTGT G 290 PASS - - - - - Del - D 136878033 136878051 14 27 540.272 - - 1 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 8 2 6 2 23 23 25 23 8 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715263374 8 137498557 TA T 720 PASS - - - - - Del - D 137498557 137498559 1 49 648.326 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 6 9 7 29 20 29 20 9 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715263829 8 138652490 CTGTT C 600 PASS - - - - - Del - D 138652490 138652500 4 35 540.271 - - 2 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 4 6 5 34 30 34 30 6 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715273283 9 20661894 C CA 900 PASS KIAA1797 CCDS34993.1 r.? - - Ins intronic I 20661894 20661901 1 70 802.03 - - 6 1 1 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 9 6 13 13 31 30 31 30 13 13 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715275518 9 28928722 CT C 420 PASS - - - - - Del - D 28928722 28928731 1 18 378.776 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 2 6 5 27 20 27 20 6 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715275591 9 29231486 CT C 360 PASS - - - - - Del - D 29231486 29231495 1 12 322.257 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 1 5 3 6 16 20 16 20 3 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715286081 9 80665048 ATAC A 267 PASS - - - - - Del - D 80665048 80665054 3 12 324.063 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 5 3 5 9 12 9 12 3 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715287481 9 85292559 AT A 900 PASS - - - - - Del - D 85292559 85292562 1 72 811.663 - - 2 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 8 11 13 24 25 24 25 11 13 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715287549 9 85603369 C CT 480 PASS RASEF CCDS6662.1 r.? - - Ins intronic I 85603369 85603379 1 25 427.468 - - 9 1 1 RASEF|CCDS6662.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RASEF|CCDS6662.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 4 5 4 16 19 16 19 5 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715288492 9 88192540 TA T 960 PASS AGTPBP1 CCDS6672.1 r.? - - Del intronic D 88192540 88192545 1 77 865.773 - - 4 1 1 AGTPBP1|CCDS6672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGTPBP1|CCDS6672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 10 9 12 22 20 22 20 9 12 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715290884 9 96342282 CGTT C 300 PASS PHF2 CCDS35069.1 r.? - - Del intronic D 96342282 96342288 3 12 268.146 - - 1 1 1 PHF2|CCDS35069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHF2|CCDS35069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 2 4 2 21 32 21 32 4 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715291525 9 98281428 AAACT A 776 PASS PTCH1 CCDS47996.1 r.? - - Del upstream D 98281428 98281437 4 30 811.663 - - 2 1 1 PTCH1|CCDS47996.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PTCH1|CCDS47996.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 4 8 4 0 0 ./. 14 1 14 2 30 10 31 10 15 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715297266 9 116380302 TTGA T 418 PASS - - - - - Del - D 116380302 116380310 3 25 432.887 - - 2 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 4 4 5 16 20 16 20 4 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715299834 9 124609142 CT C 600 PASS TTLL11 CCDS48012.1 r.? - - Del intronic D 124609142 124609144 1 32 541.108 - - 1 1 1 TTLL11|CCDS48012.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTLL11|CCDS48012.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 7 8 16 29 29 29 29 8 16 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715307600 X 8856882 TG T 420 PASS - - - - - Del - D 8856882 8856886 1 18 378.666 - - 3 1 1 - - ./. 0 0 0 0 3 8 3 8 0 0 ./. 2 5 2 5 27 24 27 24 2 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715308189 X 11835412 A AT 540 PASS - - - - - Ins - I 11835412 11835420 1 30 481.438 - - 7 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 5 5 7 23 24 23 24 5 7 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715309779 X 17892307 G GT 300 PASS - - - - - Ins - I 17892307 17892315 1 10 260.241 - - 7 1 - - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 1 4 1 32 33 32 33 4 1 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715311688 X 26276547 T TA 300 PASS - - - - - Ins - I 26276547 26276557 1 12 265.659 - - 9 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 2 3 2 30 30 30 30 3 2 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715313054 X 31367555 G GT 449 PASS DMD CCDS14233.1 r.? - - Ins intronic I 31367555 31367557 1 24 426.139 - - 1 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 9 0 0 ./. 5 3 12 5 23 14 23 15 12 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715314376 X 36986668 AG A 480 PASS - - - - - Del - D 36986668 36986674 1 24 432.159 - - 5 1 1 - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 5 3 7 4 22 25 22 25 7 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715315707 X 43044699 TATAA T 358 PASS - - - - - Del - D 43044699 43044707 4 20 378.666 - - 1 1 - - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 4 2 5 11 12 12 12 3 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715315722 X 43147579 TGAA T 838 PASS - - - - - Del - D 43147579 43147583 3 60 810.825 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 11 5 12 19 22 19 23 5 13 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715319809 X 65499687 GA G 360 PASS - - - - - Del - D 65499687 65499693 1 12 324.571 - - 5 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 1 7 1 21 21 21 21 7 1 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715320422 X 68497544 CT C 420 PASS - - - - - Del - D 68497544 68497546 1 14 378.064 - - 1 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 1 6 2 8 10 20 10 20 2 8 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715322308 X 77174996 C CT 480 PASS ATP7A CCDS35339.1 r.? - - Ins intronic I 77174996 77175006 1 24 426.741 - - 9 1 1 ATP7A|CCDS35339.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ATP7A|CCDS35339.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 11 23 11 0 0 ./. 5 3 7 6 26 29 26 29 7 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715326257 X 92987927 AT A 269 PASS - - - - - Del - D 92987927 92987937 1 12 270.476 - - 9 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 4 6 27 19 27 19 4 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715329172 X 105949616 G GA 300 PASS RNF128 CCDS14520.1 r.? - - Ins intronic I 105949616 105949626 1 12 267.466 - - 9 1 1 RNF128|CCDS14520.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF128|CCDS14520.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 3 12 3 0 0 ./. 2 3 8 6 30 23 31 23 8 6 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715329466 X 107179118 A AC 360 PASS MID2 ENST00000427119 r.? - - Ins downstream I 107179118 107179125 1 15 320.959 - - 6 1 1 MID2|ENST00000427119|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MID2|ENST00000427119|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 2 6 4 27 16 27 16 6 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715329525 X 107532792 TA T 360 PASS COL4A6 CCDS14542.1 r.? - - Del intronic D 107532792 107532802 1 15 324.571 - - 9 1 - COL4A6|CCDS14542.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL4A6|CCDS14542.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 2 5 4 31 23 31 23 5 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715336468 X 131247622 AT A 420 PASS FRMD7 CCDS35397.1 r.? - - Del intronic D 131247622 131247625 1 20 378.666 - - 2 1 1 FRMD7|CCDS35397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRMD7|CCDS35397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 4 3 4 35 24 35 24 3 4 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715338348 X 137790169 CA C 360 PASS FGF13 CCDS14665.1 r.? - - Del intronic D 137790169 137790178 1 16 317.948 - - 8 1 1 FGF13|CCDS14665.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF13|CCDS14665.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 6 3 36 23 36 23 6 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715338739 X 139105778 CAG C 300 PASS - - - - - Del - D 139105778 139105794 2 6 270.476 - - 7 1 1 - - ./. 0 0 0 0 1 13 1 13 0 0 ./. 0 5 0 5 9 42 9 42 0 5 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715342082 X 150593171 G GAGGAGGAGGAAGAGGAAGAAGAAGAGGAGA 269 PASS - - - - - Ins - I 150593171 150593182 30 12 177.157 - - 0 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 3 0 0 33 28 33 30 2 3 1 1 1 1 1 1 1 1 2662648 PD18175a PD18175b 2715342416 X 152051436 TC T 1709 PASS - - - - - Del - D 152051436 152051440 1 238 1563.94 - - 3 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 13 16 17 21 28 30 28 30 17 21 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721877493 1 1153978 A ACT 277 PASS SDF4 CCDS30553.1 r.1034_1035insag c.771_772insAG p.F258fs*23 Ins frameshift I 1153978 1153982 2 12 261.175 - - 1 1 1 SDF4|CCDS30553.1|r.1034_1035insag|c.771_772insAG|p.F258fs*23|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 SDF4|CCDS30553.1|r.1034_1035insag|c.771_772insAG|p.F258fs*23|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 2 5 3 15 17 15 18 5 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721897406 1 65114769 A AT 629 PASS CACHD1 CCDS628.2 r.? - - Ins intronic I 65114769 65114778 1 36 583.255 - - 8 1 1 CACHD1|CCDS628.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACHD1|CCDS628.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 22 16 22 0 0 ./. 3 8 6 10 15 18 16 18 6 10 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721901240 1 78860889 A AT 360 PASS PTGFR CCDS686.1 r.? - - Ins intronic I 78860889 78860897 1 15 317.264 - - 7 1 1 PTGFR|CCDS686.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTGFR|CCDS686.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 29 15 30 0 0 ./. 2 4 2 6 13 20 14 20 2 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721911629 1 114006986 G GT 540 PASS MAGI3 CCDS860.1 r.? - - Ins intronic I 114006986 114006988 1 28 477.702 - - 1 1 1 MAGI3|CCDS860.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAGI3|CCDS860.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 19 9 20 0 0 ./. 6 3 7 4 25 13 25 13 7 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721912810 1 118803456 A AT 540 PASS - - - - - Ins - I 118803456 118803462 1 30 475.293 - - 5 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 5 4 5 7 16 12 16 12 5 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721919529 1 152927270 GGT G 300 PASS - - - - - Del - D 152927270 152927289 2 10 267.798 - - 9 1 - - - ./. 0 0 0 0 25 16 25 16 0 0 ./. 1 4 1 4 27 24 27 24 1 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721927385 1 171749672 GTA G 269 PASS METTL13 CCDS1299.1 r.? - - Del upstream D 171749672 171749678 2 10 267.798 - - 2 1 1 METTL13|CCDS1299.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 METTL13|CCDS1299.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 17 13 17 13 0 0 ./. 1 4 1 7 30 39 30 39 1 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721927610 1 172349506 AGTCC A 298 PASS DNM3 CCDS44276.1 r.? - - Del intronic D 172349506 172349513 4 15 322.08 - - 1 1 1 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 20 24 20 0 0 ./. 4 2 3 3 35 35 36 35 4 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721927879 1 173230989 C CA 300 PASS AL022310.2 ENST00000421168 r.? - - Ins intronic I 173230989 173230999 1 12 265.39 - - 9 1 1 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 15 26 17 0 0 ./. 3 2 3 2 40 37 41 38 3 2 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721928745 1 175741358 AC A 637 PASS - - - - - Del - D 175741358 175741360 1 42 585.062 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 6 5 11 9 27 25 27 25 11 9 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721932801 1 185883851 A AT 1200 PASS HMCN1 CCDS30956.1 r.? - - Ins intronic I 185883851 185883861 1 112 1057.34 - - 9 1 1 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 7 13 10 15 33 48 33 48 10 15 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721934874 1 191096055 C CAAAT 840 PASS - - - - - Ins - I 191096055 191096083 4 63 717.203 - - 6 1 - - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 8 6 12 27 35 28 35 6 12 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721935142 1 191933420 CTG C 1117 PASS - - - - - Del - D 191933420 191933426 2 98 1015.71 - - 2 1 1 - - ./. 0 0 0 0 15 26 15 26 0 0 ./. 6 13 9 22 20 30 20 30 9 22 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721937727 1 199208151 C CT 1109 PASS - - - - - Ins - I 199208151 199208158 1 104 1008.48 - - 6 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 7 12 8 16 22 36 22 36 8 16 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721938892 1 201596207 C CT 1080 PASS NAV1 ENST00000367302 r.? - - Ins intronic I 201596207 201596215 1 96 949.984 - - 7 1 1 NAV1|ENST00000367302|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NAV1|ENST00000367302|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 16 24 16 0 0 ./. 7 11 9 15 28 33 28 34 9 15 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721940816 1 205423677 TGA T 300 PASS LEMD1 CCDS30986.1 r.? - - Del upstream D 205423677 205423696 2 10 268.4 - - 9 1 - LEMD1|CCDS30986.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LEMD1|CCDS30986.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 1 4 1 39 21 39 21 4 1 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721948124 1 224183860 AACAGA AAAC 290 PASS - - - - - Complex - DI 224183861 224183865 5 14 0 - - 0 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 6 1 0 0 51 34 51 34 6 1 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721950317 1 228771163 C CG 646 PASS RN5S1 ENST00000363040 r.? - - Ins upstream I 228771163 228771170 1 23 1157.48 - - 6 1 1 RN5S1|ENST00000363040|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 RN5S1|ENST00000363040|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 5 5 5 5 0 0 ./. 22 0 27 0 43 14 45 15 28 0 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721962877 10 8111432 TCA T 300 PASS GATA3 CCDS31143.1 r.1493-3_1493-2delca c.925-3_925-2delca p.? Del ess splice D 8111432 8111435 2 12 269.472 - - 1 1 1 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 GATA3|CCDS31143.1|r.1493-3_1493-2delca|c.925-3_925-2delca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 ./. 0 0 0 0 27 15 27 15 0 0 ./. 2 3 4 3 12 21 12 21 4 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721965195 10 13892285 A AT 360 PASS FRMD4A CCDS7101.1 r.? - - Ins intronic I 13892285 13892295 1 16 317.948 - - 9 1 1 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FRMD4A|CCDS7101.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 22 29 22 0 0 ./. 3 3 4 3 17 8 17 8 4 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721971125 10 30821384 GT G 360 PASS - - - - - Del - D 30821384 30821386 1 7 323.366 - - 1 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 0 6 5 8 13 15 13 15 5 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721982712 10 68302852 TTTTG T 404 PASS CTNNA3 CCDS7269.1 r.? - - Del intronic D 68302852 68302872 4 24 431.155 - - 4 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 9 24 9 0 0 ./. 3 5 5 7 12 19 12 19 5 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721991930 10 98564915 GC G 300 PASS - - - - - Del - D 98564915 98564918 1 12 269.472 - - 2 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 2 4 5 9 22 9 22 4 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2721996988 10 113658078 CCT C 600 PASS - - - - - Del - D 113658078 113658081 2 35 535.331 - - 1 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 4 6 4 12 10 20 10 20 4 12 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722003810 10 134917018 TC T 300 PASS GPR123 CCDS41580.1 r.? - - Del intronic D 134917018 134917023 1 6 269.472 - - 4 1 1 GPR123|CCDS41580.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR123|CCDS41580.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 0 5 2 5 11 16 11 16 2 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722006226 11 6140500 CA C 807 PASS - - - - - Del - D 6140500 6140509 1 72 809.917 - - 8 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 8 7 10 7 25 15 25 15 10 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722007623 11 9867957 TA T 420 PASS SBF2 CCDS31427.1 r.? - - Del intronic D 9867957 9867960 1 18 376.155 - - 2 1 1 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SBF2|CCDS31427.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 5 2 7 3 14 15 14 15 7 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722014348 11 30157284 A AT 660 PASS - - - - - Ins - I 30157284 30157293 1 40 577.081 - - 8 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 4 7 7 12 23 28 23 28 7 12 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722014893 11 32169307 TCTACTGGTG T 290 PASS - - - - - Del - D 32169307 32169319 9 35 539.945 - - 1 1 1 - - ./. 0 0 0 0 23 12 23 12 0 0 ./. 4 6 4 6 16 16 16 17 4 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722017864 11 40735256 CCTT C 420 PASS - - - - - Del - D 40735256 40735262 3 20 377.961 - - 1 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 4 3 5 3 18 12 18 12 5 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722027589 11 71779206 TGAA T 329 PASS NUMA1 CCDS31633.1 r.? - - Del intronic D 71779206 71779213 3 15 323.967 - - 2 1 1 NUMA1|CCDS31633.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NUMA1|CCDS31633.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 2 4 3 23 24 23 24 4 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722033994 11 92404204 G GT 840 PASS FAT3 CCDS44706.1 r.? - - Ins intronic I 92404204 92404211 1 60 742.677 - - 6 1 1 FAT3|CCDS44706.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAT3|CCDS44706.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 21 19 21 0 0 ./. 9 5 13 6 27 26 27 26 13 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722036325 11 99699804 C CA 420 PASS CNTN5 ENST00000279463 r.? - - Ins intronic I 99699804 99699813 1 20 371.941 - - 8 1 1 CNTN5|ENST00000279463|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTN5|ENST00000279463|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 20 16 20 0 0 ./. 3 4 4 8 11 26 11 26 4 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722036791 11 101007291 A AT 300 PASS - - - - - Ins - I 101007291 101007301 1 12 259.737 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 3 2 3 29 26 29 26 2 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722039406 11 108758194 T TA 720 PASS DDX10 CCDS8342.1 r.? - - Ins intronic I 108758194 108758204 1 49 634.086 - - 9 1 1 DDX10|CCDS8342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DDX10|CCDS8342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 19 26 19 0 0 ./. 6 6 6 8 20 26 20 26 6 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722041859 11 116625885 TAAG T 538 PASS BUD13 CCDS8374.1 r.? - - Del intronic D 116625885 116625889 3 32 539.945 - - 1 1 1 BUD13|CCDS8374.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BUD13|CCDS8374.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 22 18 22 0 0 ./. 7 3 8 3 27 22 27 22 8 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722044268 11 123394368 T TC 269 PASS GRAMD1B ENST00000456860 r.? - - Ins upstream I 123394368 123394369 1 12 266.962 - - 0 1 1 GRAMD1B|ENST00000456860|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 GRAMD1B|ENST00000456860|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 13 12 14 0 0 ./. 2 3 3 3 29 19 29 20 3 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722046305 11 129625418 TCAG T 298 PASS - - - - - Del - D 129625418 129625422 3 15 323.967 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 2 4 4 13 15 14 15 5 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722047649 11 134838253 TA T 420 PASS - - - - - Del - D 134838253 134838260 1 20 377.961 - - 6 1 1 - - ./. 0 0 0 0 14 25 14 25 0 0 ./. 3 4 5 6 15 11 15 11 5 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722051327 12 10094078 CAAT C 509 PASS - - - - - Del - D 10094078 10094084 3 28 484.551 - - 1 1 1 - - ./. 0 0 0 0 24 16 24 16 0 0 ./. 6 3 9 7 18 17 18 17 9 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722067850 12 66233398 G GT 540 PASS HMGA2 CCDS44936.1 r.? - - Ins intronic I 66233398 66233401 1 28 480.939 - - 2 1 1 HMGA2|CCDS44936.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HMGA2|CCDS44936.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 6 3 9 8 16 8 16 3 9 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722085981 12 125681673 A AT 420 PASS - - - - - Ins - I 125681673 125681680 1 20 372.859 - - 6 1 1 - - ./. 0 0 0 0 11 14 12 15 0 0 ./. 4 3 10 4 27 18 28 18 10 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722106951 13 69638447 TATC T 418 PASS - - - - - Del - D 69638447 69638453 3 25 433.022 - - 1 1 1 - - ./. 0 0 0 0 17 27 17 27 0 0 ./. 4 4 4 5 8 14 9 14 5 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722108887 13 74944331 CCT C 300 PASS - - - - - Del - D 74944331 74944343 2 10 270.037 - - 5 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 1 5 1 15 16 15 16 5 1 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722116056 13 96356123 TC T 449 PASS DNAJC3 CCDS9479.1 r.? - - Del intronic D 96356123 96356126 1 16 424.594 - - 2 1 1 DNAJC3|CCDS9479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC3|CCDS9479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 20 15 20 0 0 ./. 1 7 6 14 17 31 17 31 6 14 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722122048 13 113859578 AG A 509 PASS CUL4A CCDS9533.1 r.? - - Del upstream D 113859578 113859581 1 30 478.721 - - 2 1 1 CUL4A|CCDS9533.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PCID2|CCDS9532.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 4 5 5 8 21 22 21 22 5 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722136158 14 59449735 A AT 720 PASS - - - - - Ins - I 59449735 59449742 1 48 641.743 - - 6 1 1 - - ./. 0 0 0 0 13 23 14 25 0 0 ./. 7 5 10 6 17 20 17 20 10 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722164325 15 57846378 C CT 329 PASS CGNL1 CCDS10161.1 r.? - - Ins downstream I 57846378 57846383 1 12 320.044 - - 4 1 1 CGNL1|CCDS10161.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CGNL1|CCDS10161.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 18 20 18 20 0 0 ./. 1 5 3 7 8 17 8 18 3 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722164844 15 59547930 GTTT G 387 PASS MYO1E CCDS32254.1 r.? - - Del intronic D 59547930 59547935 3 25 433.95 - - 4 1 1 MYO1E|CCDS32254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO1E|CCDS32254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 4 4 4 7 10 10 10 10 4 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722178533 16 1458964 C CTCCA 478 PASS UNKL CCDS32359.1 r.? - - Ins intronic I 1458964 1458966 4 28 463.644 - - 0 1 1 UNKL|CCDS32359.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UNKL|CCDS32359.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 7 21 7 0 0 ./. 6 3 8 4 21 21 22 21 9 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722183094 16 10557696 T TTA 1200 PASS ATF7IP2 CCDS10540.1 r.? - - Ins intronic I 10557696 10557701 2 117 1057.82 - - 2 1 1 ATF7IP2|CCDS10540.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AC131649.1|ENST00000515579|r.1389_1390insua|-|-|non_protein_coding:exon:insertion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000667:SO:0001619 ./. 0 0 0 0 26 12 26 12 0 0 ./. 8 12 11 17 21 30 21 30 11 17 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722187650 16 20923087 G GT 540 PASS LYRM1 CCDS10593.1 r.? - - Ins intronic I 20923087 20923094 1 18 481.706 - - 6 1 1 LYRM1|CCDS10593.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LYRM1|CCDS10593.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 12 25 12 0 0 ./. 8 1 9 3 20 20 20 20 9 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722199172 16 62024030 TATG T 600 PASS CDH8 CCDS10802.1 r.? - - Del intronic D 62024030 62024037 3 20 540.648 - - 2 1 1 CDH8|CCDS10802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH8|CCDS10802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 1 9 2 9 8 13 8 13 2 9 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722200037 16 65289867 AGATC A 505 PASS - - - - - Del - D 65289867 65289872 4 40 594.773 - - 1 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 7 4 8 6 13 11 13 11 8 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722203099 16 76199707 C CCA 329 PASS - - - - - Ins - I 76199707 76199708 2 16 303.076 - - 0 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 3 0 0 7 18 8 18 3 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722209363 17 5400409 CTG C 600 PASS ENSG00000091592 CCDS32537.1 r.? - - Del downstream D 5400409 5400414 2 36 541.423 - - 2 1 1 ENSG00000091592|CCDS32537.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000091592|CCDS32537.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 5 9 6 16 25 16 25 9 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722212926 17 14061264 TG T 840 PASS COX10 CCDS11166.1 r.? - - Del intronic D 14061264 14061269 1 64 756.788 - - 4 1 1 COX10|CCDS11166.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COX10|CCDS11166.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 7 7 7 8 21 17 21 17 7 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722233545 17 71415858 C CA 540 PASS SDK2 CCDS45769.1 r.? - - Ins intronic I 71415858 71415867 1 30 481.862 - - 8 1 1 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 5 5 8 20 26 21 26 5 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722246837 18 28361027 TATA T 720 PASS - - - - - Del - D 28361027 28361037 3 40 650.52 - - 3 1 1 - - ./. 0 0 0 0 21 20 21 20 0 0 ./. 9 3 11 7 23 15 23 15 11 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722249346 18 37213781 C CT 360 PASS AC105201.1 ENST00000510201 r.? - - Ins intronic I 37213781 37213786 1 15 319.239 - - 4 1 1 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 2 4 2 4 21 21 21 21 2 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722256185 18 58214019 C CT 720 PASS - - - - - Ins - I 58214019 58214029 1 48 638.479 - - 9 1 1 - - ./. 0 0 0 0 27 20 27 20 0 0 ./. 7 5 8 5 16 16 16 16 8 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722262220 18 75449931 AC A 480 PASS - - - - - Del - D 75449931 75449936 1 25 431.874 - - 4 1 1 - - ./. 0 0 0 0 23 7 23 7 0 0 ./. 4 4 6 3 18 23 18 23 6 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722276630 19 32662018 T TA 540 PASS - - - - - Ins - I 32662018 32662026 1 28 482.389 - - 7 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 6 3 6 5 13 15 13 15 6 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722278412 19 36829747 TAC T 480 PASS ZFP14 CCDS33002.1 r.3072_3073delGU c.? p.? Del 3'UTR variant D 36829747 36829757 2 25 433.607 - - 4 1 1 ZFP14|CCDS33002.1|r.3072_3073delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ZFP14|CCDS33002.1|r.3072_3073delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 21 17 21 17 0 0 ./. 4 4 5 5 19 17 19 17 5 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722289898 2 5229327 GT G 540 PASS - - - - - Del - D 5229327 5229329 1 30 483.782 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 4 8 4 23 18 23 18 8 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722302682 2 43131430 A AG 660 PASS - - - - - Ins - I 43131430 43131437 1 40 584.666 - - 6 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 7 6 9 20 18 20 18 6 9 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722305605 2 52120846 C CA 540 PASS - - - - - Ins - I 52120846 52120853 1 28 478.363 - - 6 1 1 - - ./. 0 0 0 0 22 27 22 27 0 0 ./. 6 3 10 5 39 20 39 21 10 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722321200 2 104861347 C CA 840 PASS - - - - - Ins - I 104861347 104861355 1 60 744.12 - - 7 1 1 - - ./. 0 0 0 0 24 21 25 22 0 0 ./. 5 9 5 13 20 27 20 29 5 13 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722325538 2 119532777 C CA 600 PASS - - - - - Ins - I 119532777 119532786 1 35 529.106 - - 8 1 1 - - ./. 0 0 0 0 24 21 24 23 0 0 ./. 4 6 6 7 14 15 14 15 6 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722335152 2 149629672 G GC 480 PASS KIF5C ENST00000435030 r.? - - Ins upstream I 149629672 149629682 1 24 424.007 - - 9 1 1 KIF5C|ENST00000435030|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 KIF5C|ENST00000435030|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 22 13 22 0 0 ./. 5 3 7 4 20 20 20 20 7 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722340943 2 169685484 TG T 720 PASS NOSTRIN CCDS42771.1 r.? - - Del intronic D 169685484 169685487 1 45 645.042 - - 2 1 1 NOSTRIN|CCDS42771.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOSTRIN|CCDS42771.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 8 5 9 15 12 15 12 5 9 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722346395 2 185778049 TTTTA T 269 PASS ZNF804A CCDS2291.1 r.? - - Del intronic D 185778049 185778062 4 12 266.961 - - 3 1 1 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 3 2 7 3 13 14 13 14 7 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722368527 20 8624380 CA C 426 PASS PLCB1 CCDS13103.1 r.? - - Del intronic D 8624380 8624387 1 16 433.915 - - 6 1 1 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 13 4 13 0 0 ./. 1 7 1 7 2 16 2 16 1 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722372295 20 20124652 CAA C 689 PASS C20orf26 CCDS33447.1 r.? - - Del intronic D 20124652 20124657 2 33 639.734 - - 4 1 1 C20orf26|CCDS33447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C20orf26|CCDS33447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 10 2 12 2 24 16 24 16 12 2 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722414247 22 44760807 AAC A 449 PASS ENSG00000220702 ENST00000406912 r.? - - Del upstream D 44760807 44760812 2 24 432.065 - - 2 1 1 ENSG00000220702|ENST00000406912|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000220702|ENST00000406912|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 3 6 3 16 11 16 11 6 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722418847 3 6703629 TG T 780 PASS - - - - - Del - D 6703629 6703634 1 56 699.744 - - 4 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 6 7 8 9 21 20 21 20 8 9 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722427485 3 34998625 A AT 480 PASS - - - - - Ins - I 34998625 34998634 1 25 426.166 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 4 5 5 26 31 26 31 5 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722433546 3 55450002 TC T 600 PASS - - - - - Del - D 55450002 55450005 1 35 538.728 - - 2 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 6 6 7 23 17 23 17 6 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722438309 3 70607691 AT A 420 PASS - - - - - Del - D 70607691 70607695 1 18 377.11 - - 3 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 2 7 2 29 7 29 7 7 2 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722440992 3 75912009 C CT 259 PASS - - - - - Ins - I 75912009 75912010 1 8 372.293 - - 0 1 1 - - ./. 0 0 0 0 12 20 12 21 0 0 ./. 7 0 3 2 34 21 41 21 10 2 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722445952 3 96744874 GT G 420 PASS EPHA6 CCDS46876.1 r.? - - Del intronic D 96744874 96744880 1 18 377.11 - - 5 1 1 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA6|CCDS46876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 20 20 20 0 0 ./. 2 5 8 5 29 14 29 14 8 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722454598 3 124926019 GAGCCTGCT G 261 PASS SLC12A8 CCDS43143.1 r.? - - Del intronic D 124926019 124926028 8 30 484.855 - - 1 1 1 SLC12A8|CCDS43143.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC12A8|CCDS43143.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 5 4 4 13 12 13 13 4 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722456878 3 132575404 A AT 420 PASS - - - - - Ins - I 132575404 132575413 1 18 366.272 - - 8 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 5 2 5 3 15 15 16 15 6 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722466739 3 166205860 A AT 300 PASS - - - - - Ins - I 166205860 166205867 1 10 266.354 - - 6 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 4 1 5 3 15 7 15 8 5 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722484038 4 23606967 CT C 420 PASS - - - - - Del - D 23606967 23606970 1 20 376.946 - - 2 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 3 4 3 6 11 22 11 22 3 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722495500 4 58685232 AT A 629 PASS - - - - - Del - D 58685232 58685235 1 42 592.343 - - 2 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 6 7 7 12 18 12 18 7 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722498368 4 66944255 T TA 809 PASS - - - - - Ins - I 66944255 66944263 1 60 745.462 - - 7 1 1 - - ./. 0 0 0 0 26 24 27 24 0 0 ./. 9 5 9 9 24 22 24 22 9 9 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722503386 4 83012234 AG A 600 PASS - - - - - Del - D 83012234 83012237 1 35 537.29 - - 2 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 6 6 8 19 22 19 22 6 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722505817 4 90006379 G GT 300 PASS - - - - - Ins - I 90006379 90006389 1 12 266.237 - - 9 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 2 3 2 3 22 33 23 33 2 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722507121 4 95166040 T TAA 389 PASS SMARCAD1 CCDS47101.1 r.? - - Ins intronic I 95166040 95166043 2 18 368.517 - - 2 1 1 SMARCAD1|CCDS47101.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMARCAD1|CCDS47101.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 5 2 9 5 23 18 23 18 9 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722508690 4 101195764 CACTT C 379 PASS - - - - - Del - D 101195764 101195770 4 33 646.192 - - 1 1 1 - - ./. 0 0 0 0 23 23 23 23 0 0 ./. 2 10 4 9 13 25 13 27 4 11 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722509402 4 103490478 TGAGA T 747 PASS NFKB1 CCDS3657.1 r.? - - Del intronic D 103490478 103490486 4 63 753.891 - - 3 1 1 NFKB1|CCDS3657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFKB1|CCDS3657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 6 8 9 8 18 15 18 15 9 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722511963 4 112916439 AG A 509 PASS - - - - - Del - D 112916439 112916442 1 28 475.613 - - 2 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 3 6 6 6 18 18 18 18 6 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722513415 4 117651013 G GC 300 PASS - - - - - Ins - I 117651013 117651023 1 6 263.828 - - 9 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 0 5 1 5 15 22 15 22 1 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722519627 4 137246736 TA T 600 PASS - - - - - Del - D 137246736 137246742 1 35 537.892 - - 5 1 1 - - ./. 0 0 0 0 19 23 19 23 0 0 ./. 4 6 6 7 17 18 17 18 6 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722530887 4 174179144 AG A 780 PASS GALNT7 CCDS3815.1 r.? - - Del intronic D 174179144 174179147 1 44 700.042 - - 2 1 1 GALNT7|CCDS3815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT7|CCDS3815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 10 3 11 3 28 8 28 8 11 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722544825 5 19997391 T TA 300 PASS CDH18 CCDS3652.1 r.? - - Ins intronic I 19997391 19997397 1 10 266.755 - - 5 1 1 CDH18|CCDS3652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CDH18|CCDS3652.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 25 15 25 0 0 ./. 4 1 6 1 24 15 24 15 6 1 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722552799 5 49917997 A AACT 290 PASS - - - - - Ins - I 49917997 49918001 3 11 521.468 - - 1 1 1 - - ./. 0 0 0 0 21 9 21 9 0 0 ./. 10 0 11 0 34 16 34 16 11 0 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722552986 5 50682810 CT C 300 PASS ISL1 CCDS43314.1 r.? - - Del intronic D 50682810 50682817 1 12 269.765 - - 6 1 1 ISL1|CCDS43314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ISL1|CCDS43314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 2 3 2 3 8 17 8 17 2 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722557951 5 67596634 ATTGT A 509 PASS PIK3R1 CCDS3993.1 r.5423_5426delUUGU c.? p.? Del 3'UTR variant D 67596634 67596643 4 30 484.975 - - 2 1 1 PIK3R1|CCDS3993.1|r.5423_5426delUUGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PIK3R1|CCDS3993.1|r.5423_5426delUUGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 21 12 21 0 0 ./. 4 5 5 6 13 23 13 23 5 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722558345 5 68683103 T TA 420 PASS RAD17 CCDS4004.1 r.? - - Ins intronic I 68683103 68683113 1 18 370.446 - - 9 1 1 RAD17|CCDS4004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAD17|CCDS4004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 12 22 12 0 0 ./. 2 5 3 8 14 21 14 21 3 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722558820 5 72279690 C CAT 360 PASS FCHO2 CCDS47230.1 r.? - - Ins intronic I 72279690 72279706 2 12 316.493 - - 7 1 1 FCHO2|CCDS47230.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FCHO2|CCDS47230.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 5 1 6 3 21 13 22 13 6 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722568871 5 108699462 AAACT A 509 PASS PJA2 CCDS4099.1 r.? - - Del intronic D 108699462 108699473 4 28 482.567 - - 2 1 1 PJA2|CCDS4099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PJA2|CCDS4099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 15 27 17 0 0 ./. 3 6 3 7 15 16 15 18 3 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722574466 5 129201620 GA G 300 PASS - - - - - Del - D 129201620 129201628 1 12 269.765 - - 7 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 2 6 3 14 16 14 16 6 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722579302 5 147586976 CA C 600 PASS SPINK6 CCDS34268.1 r.? - - Del intronic D 147586976 147586978 1 27 539.53 - - 1 1 1 SPINK6|CCDS34268.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPINK6|CCDS34268.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 23 23 23 0 0 ./. 2 8 4 8 16 24 16 24 4 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722591826 6 7246997 CGGGGGCGCGGCCTCGCAGGAGCA C 261 PASS RREB1 CCDS34335.1 r.4852_4874del23 c.4315_4337del23 p.G1439fs*49 Del frameshift D 7246997 7247022 23 24 485 - - 1 1 1 RREB1|CCDS34335.1|r.4852_4874del23|c.4315_4337del23|p.G1439fs*49|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 RREB1|CCDS34335.1|r.4852_4874del23|c.4315_4337del23|p.G1439fs*49|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 17 12 17 12 0 0 ./. 2 7 2 5 15 21 15 23 2 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722605983 6 41513941 AAG A 358 PASS FOXP4 CCDS34447.1 r.? - - Del upstream D 41513941 41513944 2 18 376.018 - - 1 1 1 FOXP4|CCDS34447.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 FOXP4|CCDS34447.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 23 29 23 29 0 0 ./. 2 5 2 5 12 18 12 18 2 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722614081 6 66868104 G GA 749 PASS - - - - - Ins - I 66868104 66868112 1 54 688.514 - - 7 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 8 5 9 6 22 20 22 20 9 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722615086 6 69364974 T TG 600 PASS BAI3 CCDS4968.1 r.? - - Ins intronic I 69364974 69364975 1 36 532.868 - - 0 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 18 22 18 0 0 ./. 5 5 6 7 14 14 14 14 6 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722618230 6 78640208 A AG 360 PASS - - - - - Ins - I 78640208 78640209 1 15 317.915 - - 0 1 - - - ./. 0 0 0 0 21 11 22 11 0 0 ./. 4 2 7 6 29 14 29 14 7 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722621720 6 90951314 CTGTT C 538 PASS BACH2 CCDS5026.1 r.? - - Del intronic D 90951314 90951319 4 36 538.287 - - 1 1 1 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 8 24 8 0 0 ./. 5 5 5 5 15 13 15 13 5 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722622048 6 92170580 A AT 780 PASS - - - - - Ins - I 92170580 92170589 1 50 692.729 - - 8 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 4 9 7 10 32 25 32 25 7 10 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722629556 6 115153105 TA T 660 PASS - - - - - Del - D 115153105 115153110 1 36 592.778 - - 4 1 1 - - ./. 0 0 0 0 25 15 25 15 0 0 ./. 3 8 5 11 16 25 16 25 5 11 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722637515 6 143640810 G GT 600 PASS AIG1 CCDS5198.1 r.? - - Ins intronic I 143640810 143640820 1 32 532.868 - - 9 1 1 AIG1|CCDS5198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AIG1|CCDS5198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 3 7 5 7 18 22 18 22 5 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722637611 6 143927793 ATAGT A 718 PASS PHACTR2 CCDS47492.1 r.? - - Del upstream D 143927793 143927803 4 54 698.147 - - 2 1 1 PHACTR2|CCDS47492.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PHACTR2|ENST00000397980|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 5 8 5 10 21 25 21 25 6 10 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722639252 6 149655329 CTT C 300 PASS TAB2 CCDS5214.1 r.? - - Del intronic D 149655329 149655332 2 12 269.444 - - 2 1 1 TAB2|CCDS5214.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TAB2|CCDS5214.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 13 23 13 0 0 ./. 3 2 6 3 20 16 20 16 6 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722639298 6 149760740 GGGT G 1076 PASS - - - - - Del - D 149760740 149760745 3 57 1077.78 - - 1 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 2 18 3 20 14 43 14 43 3 20 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722642887 6 159039954 A AT 303 PASS TMEM181 CCDS43520.1 r.? - - Ins intronic I 159039954 159039961 1 25 420.876 - - 6 1 1 TMEM181|CCDS43520.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM181|CCDS43520.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 4 4 5 8 17 19 17 19 5 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722643534 6 160910751 AG A 360 PASS - - - - - Del - D 160910751 160910754 1 12 323.333 - - 2 1 1 - - ./. 0 0 0 0 17 14 17 18 0 0 ./. 1 5 1 7 11 20 11 28 1 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722643686 6 161316325 CT C 780 PASS - - - - - Del - D 161316325 161316328 1 50 700.556 - - 2 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 9 4 10 7 28 21 28 21 10 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722644331 6 163104588 TA T 540 PASS PARK2 CCDS5281.1 r.? - - Del intronic D 163104588 163104590 1 18 485 - - 1 1 1 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 8 1 10 4 27 19 27 19 10 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722646262 6 169460217 C CT 329 PASS - - - - - Ins - I 169460217 169460225 1 16 314.302 - - 7 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 3 3 4 5 19 20 19 22 5 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722650534 7 10182686 T TA 300 PASS - - - - - Ins - I 10182686 10182694 1 10 266.531 - - 7 1 1 - - ./. 0 0 0 0 25 19 25 19 0 0 ./. 4 1 5 3 26 15 26 15 5 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722650908 7 11242762 AT A 689 PASS - - - - - Del - D 11242762 11242765 1 48 645.694 - - 2 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 5 7 6 9 14 25 14 25 6 9 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722655162 7 23957646 GAAAATTGGAGAAG GC 336 PASS - - - - - Complex - DI 23957647 23957659 13 48 0 - - 0 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 7 5 0 0 20 19 24 20 7 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722658313 7 33678870 AAG A 300 PASS - - - - - Del - D 33678870 33678886 2 12 269.541 - - 7 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 4 3 33 18 33 18 4 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722660708 7 41090692 A AT 480 PASS - - - - - Ins - I 41090692 41090700 1 25 426.449 - - 7 1 1 - - ./. 0 0 0 0 15 27 15 27 0 0 ./. 4 4 7 7 19 27 19 27 7 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722665541 7 55895495 GCCACTTA G 290 PASS SEPT14 CCDS5519.2 r.? - - Del intronic D 55895495 55895504 7 36 537.878 - - 1 1 1 SEPT14|CCDS5519.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEPT14|CCDS5519.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 5 6 9 17 19 17 19 6 9 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722666058 7 56761077 TTCTC T 447 PASS - - - - - Del - D 56761077 56761083 4 24 485.174 - - 2 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 7 2 8 4 26 20 26 20 8 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722672360 7 73172292 A AT 600 PASS - - - - - Ins - I 73172292 73172302 1 35 527.643 - - 9 1 1 - - ./. 0 0 0 0 25 9 25 9 0 0 ./. 6 4 8 7 22 22 22 22 8 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722676601 7 84926774 A AT 900 PASS - - - - - Ins - I 84926774 84926783 1 72 799.592 - - 8 1 1 - - ./. 0 0 0 0 27 15 27 15 0 0 ./. 8 7 10 8 29 29 29 29 10 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722676728 7 85352108 AG A 420 PASS - - - - - Del - D 85352108 85352110 1 20 377.357 - - 1 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 4 3 6 3 17 8 17 8 6 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722679294 7 94949205 CTG C 780 PASS PON1 CCDS5638.1 r.? - - Del intronic D 94949205 94949211 2 50 700.204 - - 2 1 1 PON1|CCDS5638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PON1|CCDS5638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 28 16 28 0 0 ./. 9 4 9 5 23 16 23 16 9 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722679495 7 95703705 C CA 252 PASS DYNC1I1 CCDS5644.1 r.? - - Ins intronic I 95703705 95703714 1 15 319.235 - - 8 1 1 DYNC1I1|CCDS5644.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DYNC1I1|CCDS5644.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 2 7 6 28 22 28 22 7 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722679528 7 95791480 TC T 420 PASS SLC25A13 CCDS5645.1 r.? - - Del intronic D 95791480 95791482 1 20 377.357 - - 1 1 1 SLC25A13|CCDS5645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC25A13|CCDS5645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 3 10 4 31 14 31 14 10 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722688149 7 123852320 TAC T 329 PASS - - - - - Del - D 123852320 123852324 2 15 319.235 - - 1 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 2 4 2 8 12 28 12 28 2 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722690477 7 130089413 C CA 720 PASS - - - - - Ins - I 130089413 130089422 1 48 639.071 - - 8 1 - - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 7 5 9 5 26 24 26 24 9 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722695764 7 145939336 G GA 420 PASS CNTNAP2 CCDS5889.1 r.? - - Ins intronic I 145939336 145939343 1 20 373.143 - - 6 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 4 3 7 8 28 24 28 24 7 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722698898 7 154130958 CCTA C 569 PASS DPP6 ENST00000404039 r.? - - Del intronic D 154130958 154130963 3 32 539.082 - - 1 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 7 5 10 16 18 16 18 5 10 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722708802 8 22204953 AT A 420 PASS PIWIL2 CCDS6029.1 r.? - - Del intronic D 22204953 22204955 1 14 377.953 - - 1 1 1 PIWIL2|CCDS6029.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIWIL2|CCDS6029.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 16 22 16 0 0 ./. 1 6 8 8 24 22 24 22 8 8 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722713827 8 36314061 G GA 360 PASS - - - - - Ins - I 36314061 36314068 1 15 311.317 - - 6 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 4 2 9 3 23 10 23 10 9 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722715093 8 40072435 AAC A 254 PASS - - - - - Del - D 40072435 40072453 2 12 269.967 - - 8 1 - - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 3 2 3 2 25 22 25 22 3 2 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722716862 8 49924566 G GAGAGAGAGAGAAAATGAGAGAGAGAGAGAGAA 360 PASS - - - - - Ins - I 49924566 49924576 32 12 208.365 - - 0 1 - - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 1 0 0 26 15 26 15 5 1 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722725840 8 80202467 TCATTAA T 348 PASS - - - - - Del - D 80202467 80202474 6 40 647.92 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 9 5 8 17 27 17 29 5 10 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722729024 8 91864012 TC T 720 PASS NECAB1 CCDS47889.1 r.? - - Del intronic D 91864012 91864017 1 48 647.92 - - 4 1 1 NECAB1|CCDS47889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NECAB1|CCDS47889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 5 7 6 10 19 23 19 23 6 10 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722738834 8 124365605 A AAAC 840 PASS ATAD2 CCDS6343.1 r.? - - Ins intronic I 124365605 124365629 3 55 730.62 - - 7 1 - ATAD2|CCDS6343.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATAD2|CCDS6343.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 10 4 12 4 45 30 45 30 12 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722761286 9 71545738 CCTT C 447 PASS PIP5K1B CCDS6624.1 r.? - - Del intronic D 71545738 71545742 3 30 486.685 - - 1 1 1 PIP5K1B|CCDS6624.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIP5K1B|CCDS6624.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 4 5 4 6 20 16 20 16 4 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722770086 9 101092147 C CT 480 PASS GABBR2 CCDS6736.1 r.? - - Ins intronic I 101092147 101092149 1 24 427.792 - - 1 1 1 GABBR2|CCDS6736.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GABBR2|CCDS6736.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 5 6 5 30 21 30 21 6 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722774600 9 115323253 CT C 633 PASS KIAA1958 CCDS35108.1 r.? - - Del intronic D 115323253 115323257 1 40 594.837 - - 3 1 1 KIAA1958|CCDS35108.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 KIAA1958|CCDS35108.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 7 4 7 5 18 12 18 12 7 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722776784 9 122294970 A AT 420 PASS - - - - - Ins - I 122294970 122294980 1 14 370.104 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 6 1 7 6 18 12 18 13 7 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722782095 9 137971450 C CA 540 PASS OLFM1 CCDS6986.1 r.? - - Ins intronic I 137971450 137971459 1 30 477.654 - - 8 1 1 OLFM1|CCDS6986.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OLFM1|CCDS6986.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 5 5 6 15 16 15 17 5 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722785436 X 11520903 AC A 660 PASS ARHGAP6 CCDS14140.1 r.? - - Del intronic D 11520903 11520905 1 42 594.934 - - 1 1 1 ARHGAP6|CCDS14140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP6|CCDS14140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 6 5 10 5 24 15 24 15 10 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722785538 X 12014238 G GA 840 PASS - - - - - Ins - I 12014238 12014248 1 64 748.76 - - 9 1 1 - - ./. 0 0 0 0 25 25 25 25 0 0 ./. 7 7 7 10 25 32 25 32 7 10 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722788384 X 23967399 A AT 600 PASS - - - - - Ins - I 23967399 23967409 1 35 533.625 - - 9 1 1 - - ./. 0 0 0 0 9 14 10 14 0 0 ./. 4 6 8 10 21 34 22 35 8 10 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722788905 X 25784667 TA T 480 PASS - - - - - Del - D 25784667 25784673 1 21 432.68 - - 5 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 6 2 6 2 22 5 22 5 6 2 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722791167 X 35265933 C CA 720 PASS - - - - - Ins - I 35265933 35265941 1 45 641.795 - - 7 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 8 6 11 12 31 12 31 6 11 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722791184 X 35314355 A AT 360 PASS - - - - - Ins - I 35314355 35314365 1 15 320.295 - - 9 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 4 2 7 6 21 21 21 22 7 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722791248 X 35610218 G GT 420 PASS - - - - - Ins - I 35610218 35610226 1 20 374.38 - - 7 1 1 - - ./. 0 0 0 0 26 10 26 10 0 0 ./. 3 4 4 4 18 26 18 27 4 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722793922 X 47066967 CA C 600 PASS UBA1 CCDS14275.1 r.? - - Del intronic D 47066967 47066969 1 35 540.849 - - 1 1 1 UBA1|CCDS14275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBA1|CCDS14275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 6 4 8 7 21 25 21 25 8 7 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722795759 X 55150071 TG T 540 PASS - - - - - Del - D 55150071 55150079 1 10 486.764 - - 7 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 0 9 2 10 23 21 23 21 2 10 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722800968 X 83977757 G GT 269 PASS - - - - - Ins - I 83977757 83977767 1 10 265.608 - - 9 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 4 1 4 1 37 25 37 26 4 1 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722805499 X 102750391 AC A 300 PASS RAB40A CCDS35357.1 r.? - - Del downstream D 102750391 102750395 1 10 267.414 - - 3 1 1 RAB40A|CCDS35357.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RAB40A|CCDS35357.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 1 7 4 20 24 20 24 7 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722805504 X 102789799 AC A 300 PASS - - - - - Del - D 102789799 102789809 1 12 267.414 - - 9 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 2 3 2 3 30 22 30 22 2 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722810436 X 123332593 A AC 300 PASS - - - - - Ins - I 123332593 123332594 1 12 266.21 - - 0 1 1 - - ./. 0 0 0 0 24 23 24 23 0 0 ./. 3 2 4 4 21 15 21 16 4 4 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722810736 X 124693447 T TA 749 PASS - - - - - Ins - I 124693447 124693456 1 36 694.073 - - 8 1 1 - - ./. 0 0 0 0 24 23 24 23 0 0 ./. 11 2 11 2 25 20 25 20 11 2 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722810774 X 124788173 A AT 420 PASS - - - - - Ins - I 124788173 124788183 1 18 369.564 - - 9 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 5 2 8 3 22 10 22 11 8 3 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722813115 X 135392669 G GA 420 PASS GPR112 CCDS35409.1 r.? - - Ins intronic I 135392669 135392678 1 18 374.38 - - 8 1 1 GPR112|CCDS35409.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPR112|CCDS35409.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 2 5 3 6 16 13 16 13 3 6 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722813219 X 135808006 G GA 540 PASS ARHGEF6 CCDS14660.1 r.? - - Ins intronic I 135808006 135808016 1 30 480.142 - - 9 1 1 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGEF6|CCDS14660.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 4 10 5 30 16 30 16 10 5 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722816175 X 147519068 G GA 817 PASS - - - - - Ins - I 147519068 147519078 1 64 748.76 - - 9 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 7 7 7 9 23 24 24 24 7 9 1 1 1 1 1 1 1 1 2662731 PD18178a PD18178b 2722817044 X 151274498 G GA 720 PASS - - - - - Ins - I 151274498 151274506 1 49 641.795 - - 7 1 1 - - ./. 0 0 0 0 20 30 20 30 0 0 ./. 6 6 7 10 23 28 23 30 7 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725232010 1 14897635 TG T 300 PASS - - - - - Del - D 14897635 14897637 1 10 267.219 - - 1 1 1 - - ./. 0 0 0 0 21 11 21 11 0 0 ./. 4 1 7 3 23 19 23 19 7 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725232460 1 15992575 C CT 420 PASS DDI2 CCDS30607.1 r.7661_7662insu c.? p.? Ins 3'UTR variant I 15992575 15992584 1 14 371.578 - - 8 1 1 DDI2|CCDS30607.1|r.7661_7662insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 DDI2|CCDS30607.1|r.7661_7662insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 18 16 18 16 0 0 ./. 6 1 8 3 28 15 28 15 8 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725234046 1 19980300 AACTT A 269 PASS NBL1 CCDS196.1 r.? - - Del intronic D 19980300 19980307 4 12 267.219 - - 1 1 1 NBL1|CCDS196.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NBL1|CCDS196.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 2 3 3 13 9 13 9 3 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725235062 1 22515041 ACTGCTCAGTG A 319 PASS - - - - - Del - D 22515041 22515054 10 42 589.928 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 6 5 6 17 15 17 16 5 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725236576 1 26385621 TTC T 420 PASS TRIM63 CCDS273.1 r.? - - Del intronic D 26385621 26385626 2 18 375.792 - - 2 1 1 TRIM63|CCDS273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRIM63|CCDS273.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 2 8 4 17 19 17 19 8 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725239071 1 33229086 TAGA T 276 PASS KIAA1522 CCDS41298.1 r.? - - Del intronic D 33229086 33229093 3 18 373.384 - - 2 1 1 KIAA1522|CCDS41298.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1522|CCDS41298.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 5 2 8 3 21 11 23 11 10 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725242842 1 44919132 A AT 540 PASS RNF220 CCDS510.1 r.? - - Ins intronic I 44919132 44919139 1 30 477.743 - - 6 1 1 RNF220|CCDS510.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF220|CCDS510.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 5 4 7 6 20 25 20 25 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725247432 1 60392611 G GT 300 PASS CYP2J2 CCDS613.1 r.? - - Ins upstream I 60392611 60392615 1 6 261.198 - - 3 1 1 CYP2J2|CCDS613.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 CYP2J2|CCDS613.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 16 4 18 4 0 0 ./. 5 0 8 1 24 11 24 11 8 1 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725248468 1 63045498 C CA 517 PASS DOCK7 CCDS30734.1 r.? - - Ins intronic I 63045498 63045507 1 30 477.743 - - 8 1 1 DOCK7|CCDS30734.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK7|CCDS30734.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 13 18 0 0 ./. 5 4 5 6 27 22 27 22 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725251918 1 73480414 C CA 454 PASS - - - - - Ins - I 73480414 73480421 1 24 424.66 - - 6 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 3 5 4 6 13 22 13 22 4 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725253178 1 77231467 G GT 300 PASS - - - - - Ins - I 77231467 77231476 1 12 265.413 - - 8 1 1 - - ./. 0 0 0 0 28 16 28 16 0 0 ./. 2 3 6 5 20 21 21 21 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725255788 1 85493601 C CA 660 PASS MCOLN3 CCDS701.1 r.? - - Ins intronic I 85493601 85493610 1 42 582.101 - - 8 1 1 MCOLN3|CCDS701.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MCOLN3|CCDS701.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 17 14 17 0 0 ./. 6 5 8 6 30 20 30 20 8 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725256716 1 87950492 A AT 420 PASS - - - - - Ins - I 87950492 87950502 1 18 371.578 - - 9 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 5 2 6 3 18 24 19 24 6 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725259504 1 96374810 G GT 600 PASS - - - - - Ins - I 96374810 96374819 1 35 526.009 - - 8 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 6 7 7 22 28 22 28 7 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725260975 1 101682315 T TA 1140 PASS - - - - - Ins - I 101682315 101682317 1 104 1008.57 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 12 7 12 12 33 24 34 24 12 12 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725263644 1 109749877 GCTTT G 300 PASS KIAA1324 CCDS794.1 r.? - - Del downstream D 109749877 109749890 4 10 256.984 - - 3 1 - KIAA1324|CCDS794.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KIAA1324|CCDS794.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 1 6 3 27 19 27 19 6 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725272884 1 151429909 GC G 480 PASS POGZ CCDS997.1 r.? - - Del intronic D 151429909 151429916 1 16 429.477 - - 6 1 1 POGZ|CCDS997.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 POGZ|CCDS997.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 1 7 3 8 17 26 17 26 3 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725273320 1 152520263 G GT 360 PASS LCE3C ENST00000419212 r.? - - Ins intronic I 152520263 152520271 1 12 318.495 - - 7 1 1 LCE3C|ENST00000419212|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LCE3C|ENST00000419212|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 1 5 7 8 37 39 38 39 7 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725273916 1 154068829 T TA 720 PASS NUP210L CCDS41399.1 r.? - - Ins intronic I 154068829 154068831 1 49 633.98 - - 1 1 1 NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 6 6 7 7 26 26 26 26 7 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725274172 1 154518726 TTTTAATAGT TGGC 261 PASS UBE2Q1 CCDS1069.1 r.? - - Complex downstream DI 154518727 154518735 9 24 0 - - 0 1 1 UBE2Q1|CCDS1069.1|r.?|-|-|protein_coding:indel:5KB_downstream_variant|SO:0000010:SO:1000032:SO:0001633 TDRD10|CCDS30878.2|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 1 10 1 10 0 0 ./. 2 7 0 0 15 24 18 25 2 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725275540 1 157660985 C CA 480 PASS FCRL3 CCDS1167.1 r.? - - Ins intronic I 157660985 157660994 1 24 424.66 - - 8 1 1 FCRL3|CCDS1167.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FCRL3|CCDS1167.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 19 21 19 0 0 ./. 3 5 5 8 28 45 28 45 5 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725275627 1 157982325 C CT 389 PASS KIRREL CCDS1172.2 r.? - - Ins intronic I 157982325 157982334 1 20 364.353 - - 8 1 1 KIRREL|CCDS1172.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIRREL|CCDS1172.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 3 8 4 31 28 32 28 8 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725275926 1 158904924 ACT A 660 PASS PYHIN1 CCDS1178.1 r.? - - Del intronic D 158904924 158904930 2 36 588.724 - - 2 1 1 PYHIN1|CCDS1178.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PYHIN1|CCDS1178.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 8 3 10 5 44 26 44 26 10 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725276048 1 159245599 G GA 420 PASS OR10J3 ENST00000389011 r.? - - Ins downstream I 159245599 159245608 1 18 371.578 - - 8 1 1 OR10J3|ENST00000389011|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 OR10J3|ENST00000389011|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 15 26 15 27 0 0 ./. 5 2 9 6 44 28 44 28 9 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725281454 1 172722072 A AT 420 PASS - - - - - Ins - I 172722072 172722082 1 18 370.976 - - 9 1 1 - - ./. 0 0 0 0 27 16 27 18 0 0 ./. 5 2 8 2 39 32 39 33 8 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725281574 1 173114211 GA G 420 PASS - - - - - Del - D 173114211 173114213 1 18 375.792 - - 1 1 1 - - ./. 0 0 0 0 24 13 24 13 0 0 ./. 5 2 7 3 43 35 43 35 7 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725282833 1 176164204 C CA 480 PASS RFWD2 CCDS30944.1 r.? - - Ins intronic I 176164204 176164206 1 25 416.231 - - 1 1 1 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 4 4 7 7 25 31 25 33 7 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725283601 1 178657468 AT A 420 PASS - - - - - Del - D 178657468 178657477 1 20 375.792 - - 8 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 4 3 5 5 34 52 34 52 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725284010 1 179362869 C CT 660 PASS C1orf125 CCDS30948.1 r.? - - Ins intronic I 179362869 179362879 1 40 583.908 - - 9 1 - C1orf125|CCDS30948.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C1orf125|CCDS30948.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 14 24 15 0 0 ./. 7 4 9 10 48 52 48 52 9 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725284677 1 180671628 A AT 745 PASS XPR1 CCDS1340.1 r.? - - Ins intronic I 180671628 180671638 1 66 796.238 - - 9 1 1 XPR1|CCDS1340.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XPR1|CCDS1340.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 16 27 16 0 0 ./. 10 5 12 5 63 34 63 34 12 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725286709 1 186044497 TA T 749 PASS HMCN1 CCDS30956.1 r.? - - Del intronic D 186044497 186044502 1 56 697.899 - - 4 1 1 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 7 8 9 19 21 19 21 8 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725286959 1 186786423 A AT 600 PASS - - - - - Ins - I 186786423 186786433 1 35 530.825 - - 9 1 1 - - ./. 0 0 0 0 24 17 25 17 0 0 ./. 4 6 10 7 40 52 41 52 10 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725287107 1 187134402 A ATCTACCAG 261 PASS - - - - - Ins - I 187134402 187134412 8 30 438.609 - - 1 1 1 - - ./. 0 0 0 0 24 20 24 20 0 0 ./. 5 4 6 3 33 61 33 62 6 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725291677 1 199722530 T TA 300 PASS - - - - - Ins - I 199722530 199722540 1 12 265.413 - - 9 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 3 2 4 3 31 57 31 57 4 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725292789 1 201944816 C CA 397 PASS - - - - - Ins - I 201944816 201944825 1 20 371.578 - - 8 1 1 - - ./. 0 0 0 0 24 16 24 16 0 0 ./. 3 4 8 8 43 53 43 53 8 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725293289 1 202922580 T TA 780 PASS ADIPOR1 CCDS1430.1 r.? - - Ins intronic I 202922580 202922584 1 44 690.073 - - 3 1 1 ADIPOR1|CCDS1430.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ADIPOR1|CCDS1430.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 28 12 28 0 0 ./. 3 10 8 14 32 33 32 33 8 14 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725294732 1 206500688 AG A 266 PASS - - - - - Del - D 206500688 206500691 1 12 247.953 - - 2 1 1 - - ./. 0 0 0 0 3 14 3 14 0 0 ./. 2 3 2 5 16 24 16 24 2 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725295568 1 209171846 TTTGG T 563 PASS - - - - - Del - D 209171846 209171853 4 56 697.297 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 7 6 8 6 31 43 31 43 8 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725296713 1 211909415 GATA G 298 PASS - - - - - Del - D 211909415 211909423 3 15 317.291 - - 2 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 2 4 3 5 27 28 27 28 3 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725297811 1 214303517 GA G 480 PASS - - - - - Del - D 214303517 214303525 1 24 429.477 - - 7 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 5 5 6 31 33 31 33 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725298729 1 216763821 A AT 660 PASS ESRRG CCDS1517.1 r.? - - Ins intronic I 216763821 216763827 1 42 582.704 - - 5 1 1 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 11 23 11 0 0 ./. 5 6 8 10 21 34 21 34 8 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725303947 1 229185935 T TA 577 PASS - - - - - Ins - I 229185935 229185942 1 32 530.825 - - 6 1 1 - - ./. 0 0 0 0 21 19 21 20 0 0 ./. 3 7 7 9 38 46 39 47 7 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725306057 1 234536469 ACAGT A 298 PASS TARBP1 CCDS1601.1 r.? - - Del intronic D 234536469 234536478 4 16 322.107 - - 2 1 1 TARBP1|CCDS1601.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TARBP1|CCDS1601.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 3 3 4 4 37 29 37 29 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725307720 1 237635536 A AT 780 PASS RYR2 ENST00000366574 r.? - - Ins intronic I 237635536 237635544 1 56 688.869 - - 7 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 13 25 13 0 0 ./. 6 7 7 7 40 38 40 39 7 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725309212 1 240963852 AAC A 300 PASS RGS7 CCDS31071.1 r.? - - Del intronic D 240963852 240963868 2 12 268.423 - - 7 1 1 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 3 2 3 2 36 35 36 35 3 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725311449 1 245426131 CAG C 360 PASS KIF26B CCDS44342.1 r.? - - Del intronic D 245426131 245426135 2 12 322.107 - - 1 1 1 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 1 5 1 6 26 23 26 23 1 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725311482 1 245483950 G GT 360 PASS KIF26B CCDS44342.1 r.? - - Ins intronic I 245483950 245483959 1 15 318.495 - - 8 1 1 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 4 2 5 29 35 30 35 2 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725311656 1 245899287 G GT 420 PASS - - - - - Ins - I 245899287 245899297 1 18 367.363 - - 9 1 1 - - ./. 0 0 0 0 14 21 14 22 0 0 ./. 5 2 6 4 41 31 41 31 6 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725314388 10 3475716 G GT 300 PASS - - - - - Ins - I 3475716 3475725 1 10 266.733 - - 8 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 4 2 7 12 15 12 15 2 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725318464 10 14695227 G GAACT 689 PASS FAM107B CCDS7102.1 r.? - - Ins intronic I 14695227 14695232 4 40 618.486 - - 1 1 1 FAM107B|CCDS7102.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM107B|CCDS7102.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 20 25 20 0 0 ./. 3 9 3 10 11 23 11 23 3 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725322384 10 27608996 C CT 420 PASS ENSG00000223846 ENST00000432349 r.? - - Ins downstream I 27608996 27609001 1 20 372.825 - - 4 1 1 ENSG00000223846|ENST00000432349|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000223846|ENST00000432349|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 3 5 6 13 11 13 11 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725335474 10 70110226 G GA 480 PASS RUFY2 CCDS41534.1 r.? - - Ins intronic I 70110226 70110235 1 25 426.773 - - 8 1 1 RUFY2|CCDS41534.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RUFY2|CCDS41534.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 16 16 0 0 ./. 4 4 6 5 19 10 19 10 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725336277 10 72337655 C CT 389 PASS - - - - - Ins - I 72337655 72337664 1 20 372.223 - - 8 1 1 - - ./. 0 0 0 0 26 12 26 12 0 0 ./. 4 3 8 6 15 11 15 11 8 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725341046 10 91274882 AAAAC A 360 PASS SLC16A12 CCDS7404.1 r.? - - Del intronic D 91274882 91274890 4 15 323.692 - - 1 1 - SLC16A12|CCDS7404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC16A12|CCDS7404.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 2 5 1 14 11 14 11 5 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725342735 10 96753844 TA T 389 PASS CYP2C9 CCDS7437.1 r.? - - Del downstream D 96753844 96753847 1 18 366.804 - - 2 1 1 CYP2C9|CCDS7437.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CYP2C9|CCDS7437.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 5 4 5 7 14 7 14 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725345537 10 107103058 A AT 360 PASS - - - - - Ins - I 107103058 107103064 1 15 320.08 - - 5 1 1 - - ./. 0 0 0 0 11 17 13 18 0 0 ./. 4 2 6 5 21 6 22 6 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725346374 10 110169678 A AT 300 PASS - - - - - Ins - I 110169678 110169688 1 12 266.733 - - 9 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 2 3 5 8 10 24 10 24 5 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725346529 10 110899485 G GA 300 PASS - - - - - Ins - I 110899485 110899495 1 12 266.131 - - 9 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 3 2 3 2 23 15 23 16 3 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725347056 10 112840325 TC T 360 PASS ADRA2A CCDS7569.2 r.3537delC c.? p.? Del 3'UTR variant D 112840325 112840332 1 15 323.09 - - 6 1 1 ADRA2A|CCDS7569.2|r.3537delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ADRA2A|CCDS7569.2|r.3537delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 20 17 20 0 0 ./. 2 4 3 6 14 16 14 16 3 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725347757 10 115760013 A AAT 269 PASS - - - - - Ins - I 115760013 115760024 2 10 263.723 - - 5 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 4 3 5 12 11 12 11 3 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725348658 10 120485031 T TA 420 PASS C10orf46 CCDS41570.1 r.? - - Ins intronic I 120485031 120485039 1 20 370.416 - - 7 1 1 C10orf46|CCDS41570.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C10orf46|CCDS41570.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 4 6 5 13 8 13 8 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725350826 10 129029021 G GT 269 PASS DOCK1 ENST00000398025 r.? - - Ins intronic I 129029021 129029030 1 10 262.519 - - 8 1 - DOCK1|ENST00000398025|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK1|ENST00000398025|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 25 21 25 0 0 ./. 1 4 6 7 10 12 10 12 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725352936 11 1817223 C CT 660 PASS - - - - - Ins - I 1817223 1817232 1 42 573.895 - - 8 1 - - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 5 6 6 9 22 32 22 32 6 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725354177 11 5035596 G GT 660 PASS - - - - - Ins - I 5035596 5035606 1 42 583.528 - - 9 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 5 6 8 8 34 25 34 26 8 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725358683 11 16821114 C CA 600 PASS PLEKHA7 CCDS31434.1 r.? - - Ins intronic I 16821114 16821124 1 35 533.764 - - 9 1 1 PLEKHA7|CCDS31434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLEKHA7|CCDS31434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 19 23 19 0 0 ./. 4 6 7 6 29 18 30 18 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725361697 11 24479617 C CA 420 PASS - - - - - Ins - I 24479617 24479619 1 18 373.635 - - 1 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 2 5 4 7 32 26 32 26 4 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725362577 11 26272545 GTGAC G 478 PASS - - - - - Del - D 26272545 26272556 4 30 485.806 - - 2 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 5 4 5 42 40 43 40 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725363031 11 27442687 AG A 360 PASS LGR4 CCDS31449.1 r.? - - Del intronic D 27442687 27442690 1 12 323.268 - - 2 1 1 LGR4|CCDS31449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LGR4|CCDS31449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 1 5 6 6 15 16 15 16 6 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725363588 11 29368713 C CA 600 PASS - - - - - Ins - I 29368713 29368719 1 35 533.764 - - 5 1 1 - - ./. 0 0 0 0 17 23 17 23 0 0 ./. 6 4 7 6 28 25 29 26 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725364892 11 33149271 ACTGTTCTTGTGCTTT A 261 PASS CSTF3 CCDS7883.1 r.? - - Del intronic D 33149271 33149288 15 28 484 - - 1 1 1 CSTF3|CCDS7883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSTF3|CCDS7883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 24 8 24 0 0 ./. 3 6 3 6 22 38 22 38 3 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725365087 11 33491580 A AT 540 PASS - - - - - Ins - I 33491580 33491590 1 30 477.979 - - 9 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 4 5 5 9 34 40 35 42 5 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725366469 11 37269755 TAAAC T 420 PASS - - - - - Del - D 37269755 37269763 4 18 377.849 - - 1 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 5 2 6 2 36 25 36 25 6 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725366872 11 38482472 G GT 480 PASS - - - - - Ins - I 38482472 38482480 1 25 425.807 - - 7 1 1 - - ./. 0 0 0 0 17 18 18 18 0 0 ./. 4 4 6 4 23 25 23 25 6 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725366908 11 38565012 C CT 1200 PASS - - - - - Ins - I 38565012 38565021 1 117 1064.52 - - 8 1 1 - - ./. 0 0 0 0 17 2 17 2 0 0 ./. 12 8 15 9 33 11 33 11 15 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725366939 11 38667441 G GA 720 PASS - - - - - Ins - I 38667441 38667448 1 45 640.516 - - 6 1 1 - - ./. 0 0 0 0 18 16 19 16 0 0 ./. 4 8 6 9 31 32 31 32 6 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725367490 11 39687521 ATC A 269 PASS - - - - - Del - D 39687521 39687525 2 12 264.474 - - 1 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 3 2 3 2 26 28 26 28 3 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725367708 11 40266244 G GT 569 PASS LRRC4C CCDS31464.1 r.? - - Ins intronic I 40266244 40266251 1 27 529.549 - - 6 1 1 LRRC4C|CCDS31464.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LRRC4C|CCDS31464.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 8 7 8 39 32 39 34 7 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725368282 11 41839302 TA T 420 PASS - - - - - Del - D 41839302 41839304 1 18 377.247 - - 1 1 1 - - ./. 0 0 0 0 13 23 13 23 0 0 ./. 2 5 9 11 34 34 34 34 9 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725368899 11 43624922 T TA 420 PASS - - - - - Ins - I 43624922 43624932 1 18 370.624 - - 9 1 1 - - ./. 0 0 0 0 24 15 24 15 0 0 ./. 5 2 7 7 28 31 29 31 7 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725369950 11 46799231 CT C 360 PASS CKAP5 CCDS31477.1 r.? - - Del intronic D 46799231 46799234 1 15 323.871 - - 2 1 1 CKAP5|CCDS31477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CKAP5|CCDS31477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 25 17 25 0 0 ./. 4 2 7 4 29 22 29 22 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725375713 11 65105284 A AT 269 PASS DPF2 CCDS8100.1 r.? - - Ins intronic I 65105284 65105293 1 12 260.259 - - 8 1 1 DPF2|CCDS8100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPF2|CCDS8100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 33 5 33 5 0 0 ./. 3 2 4 2 29 15 29 15 4 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725375776 11 65238041 A ATTG 563 PASS - - - - - Ins - I 65238041 65238043 3 36 678.239 - - 0 1 1 - - ./. 0 0 0 0 14 3 14 3 0 0 ./. 11 2 11 4 21 19 21 19 11 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725377078 11 68250269 A AT 960 PASS SAPS3 CCDS8182.1 r.? - - Ins intronic I 68250269 68250278 1 80 851.012 - - 8 1 1 SAPS3|CCDS8182.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SAPS3|CCDS8182.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 9 7 13 9 31 23 31 23 13 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725377760 11 70094462 AG A 300 PASS - - - - - Del - D 70094462 70094467 1 12 269.892 - - 4 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 3 5 4 23 26 23 26 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725381585 11 80973813 CAT C 1140 PASS - - - - - Del - D 80973813 80973817 2 110 1024.99 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 10 9 15 16 35 32 35 32 15 16 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725382921 11 84825698 CT C 540 PASS DLG2 CCDS44690.1 r.? - - Del intronic D 84825698 84825702 1 28 485.806 - - 3 1 1 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS44690.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 6 3 7 3 34 16 34 16 7 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725383673 11 86902969 A AT 540 PASS TMEM135 CCDS8280.1 r.? - - Ins intronic I 86902969 86902977 1 30 476.775 - - 7 1 1 TMEM135|CCDS8280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM135|CCDS8280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 27 25 27 0 0 ./. 5 4 8 4 25 18 25 18 8 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725384449 11 89087178 A AT 629 PASS NOX4 CCDS8285.1 r.? - - Ins intronic I 89087178 89087184 1 40 586.538 - - 5 1 1 NOX4|CCDS8285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NOX4|CCDS8285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 17 22 17 0 0 ./. 4 7 5 7 37 32 37 32 5 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725384760 11 90026790 A AT 660 PASS - - - - - Ins - I 90026790 90026796 1 36 586.538 - - 5 1 1 - - ./. 0 0 0 0 15 27 15 28 0 0 ./. 3 8 5 9 28 36 28 36 5 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725384863 11 90613828 C CT 272 PASS - - - - - Ins - I 90613828 90613837 1 21 427.011 - - 8 1 1 - - ./. 0 0 0 0 20 24 23 24 0 0 ./. 2 6 2 6 10 19 10 20 2 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725384901 11 90713670 C CT 360 PASS - - - - - Ins - I 90713670 90713679 1 15 319.656 - - 8 1 - - - ./. 0 0 0 0 25 31 25 31 0 0 ./. 4 2 8 7 23 15 23 15 8 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725388699 11 103554134 C CT 360 PASS - - - - - Ins - I 103554134 103554144 1 12 320.258 - - 9 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 1 5 4 5 14 15 14 15 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725388816 11 103983022 C CT 660 PASS PDGFD CCDS41703.1 r.? - - Ins intronic I 103983022 103983032 1 42 579.313 - - 9 1 1 PDGFD|CCDS41703.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDGFD|CCDS41703.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 5 6 5 8 15 17 15 18 5 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725391556 11 114846243 G GT 389 PASS - - - - - Ins - I 114846243 114846252 1 20 373.635 - - 8 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 4 3 7 3 23 8 23 8 7 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725391716 11 115533270 A AT 869 PASS - - - - - Ins - I 115533270 115533278 1 70 799.441 - - 7 1 1 - - ./. 0 0 0 0 17 23 17 23 0 0 ./. 9 6 11 11 13 11 14 11 11 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725394693 11 126948457 AATT A 480 PASS - - - - - Del - D 126948457 126948462 3 9 431.827 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 0 8 2 9 9 15 9 15 2 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725398317 12 4984700 C CT 660 PASS - - - - - Ins - I 4984700 4984708 1 40 585.573 - - 7 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 7 4 7 5 32 26 32 26 7 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725401221 12 10877649 G GA 480 PASS CSDAP1 CCDS8630.1 r.? - - Ins upstream I 10877649 10877658 1 24 425.543 - - 8 1 1 CSDAP1|CCDS8630.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 CSDAP1|CCDS8630.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 25 11 25 11 0 0 ./. 3 5 3 5 25 35 25 36 3 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725404685 12 19619892 G GT 360 PASS AEBP2 CCDS44842.1 r.? - - Ins intronic I 19619892 19619900 1 15 320.06 - - 7 1 1 AEBP2|CCDS44842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AEBP2|CCDS44842.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 23 18 23 0 0 ./. 2 4 4 4 33 30 33 30 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725404950 12 20198733 GA G 780 PASS - - - - - Del - D 20198733 20198736 1 50 701.29 - - 2 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 9 8 13 16 34 16 34 8 13 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725404987 12 20322789 A AT 540 PASS - - - - - Ins - I 20322789 20322799 1 40 584.369 - - 9 1 1 - - ./. 0 0 0 0 16 25 17 26 0 0 ./. 4 7 8 9 29 48 29 49 8 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725407453 12 26330017 G GA 420 PASS - - - - - Ins - I 26330017 26330025 1 20 364.975 - - 7 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 4 5 4 36 31 36 32 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725411335 12 38386404 A AT 600 PASS - - - - - Ins - I 38386404 38386413 1 32 533.434 - - 8 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 3 7 7 11 34 37 34 37 7 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725413572 12 44001621 GA G 540 PASS - - - - - Del - D 44001621 44001627 1 28 484.305 - - 5 1 1 - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 6 3 6 7 30 29 30 29 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725415021 12 48729049 ACT A 360 PASS ZNF641 CCDS8763.1 r.? - - Del downstream D 48729049 48729056 2 12 323.672 - - 3 1 1 ZNF641|CCDS8763.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF641|CCDS8763.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 5 1 7 24 24 24 24 1 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725416238 12 50911612 C CT 300 PASS DIP2B CCDS31799.1 r.? - - Ins intronic I 50911612 50911620 1 12 264.911 - - 7 1 1 DIP2B|CCDS31799.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DIP2B|CCDS31799.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 26 20 27 0 0 ./. 2 3 5 5 20 28 20 28 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725418004 12 54705738 C CA 420 PASS - - - - - Ins - I 54705738 54705747 1 20 373.404 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 3 6 5 35 19 35 19 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725418990 12 57117934 G GC 660 PASS NACA2 CCDS44925.1 r.? - - Ins intronic I 57117934 57117938 1 36 583.767 - - 3 1 1 NACA2|CCDS44925.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NACA2|CCDS44925.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 3 8 4 11 22 22 22 23 4 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725419183 12 57632190 T TG 420 PASS SHMT2 CCDS8934.1 r.? - - Ins downstream I 57632190 57632199 1 20 373.404 - - 8 1 1 SHMT2|CCDS8934.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 NDUFA4L2|CCDS8935.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 19 18 20 0 0 ./. 3 4 3 5 20 21 20 21 3 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725420031 12 60009250 TG T 509 PASS - - - - - Del - D 60009250 60009252 1 30 484.305 - - 1 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 4 5 5 16 15 16 15 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725420032 12 60017733 G GT 300 PASS - - - - - Ins - I 60017733 60017741 1 12 266.717 - - 7 1 1 - - ./. 0 0 0 0 9 28 10 28 0 0 ./. 3 2 4 3 29 14 30 15 4 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725421921 12 65546664 T TG 480 PASS - - - - - Ins - I 65546664 65546672 1 16 409.287 - - 7 1 1 - - ./. 0 0 0 0 8 21 9 21 0 0 ./. 7 1 9 4 28 22 28 23 9 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725421985 12 65801310 A AT 509 PASS MSRB3 CCDS31853.1 r.? - - Ins intronic I 65801310 65801318 1 30 479.488 - - 7 1 1 MSRB3|CCDS31853.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MSRB3|CCDS31853.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 13 19 14 0 0 ./. 5 4 7 6 43 34 45 34 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725425426 12 75449987 C CA 420 PASS KCNC2 CCDS9005.1 r.? - - Ins intronic I 75449987 75449993 1 18 373.404 - - 5 1 1 KCNC2|CCDS9005.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNC2|CCDS9005.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 5 2 5 4 24 27 24 27 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725426670 12 78811150 CACA C 654 PASS - - - - - Del - D 78811150 78811156 3 60 754.634 - - 1 1 1 - - ./. 0 0 0 0 24 22 24 22 0 0 ./. 9 5 10 6 42 29 42 29 10 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725426742 12 79083072 G GT 480 PASS - - - - - Ins - I 79083072 79083079 1 21 426.145 - - 6 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 6 2 9 8 21 26 21 28 9 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725427320 12 81086785 A AT 360 PASS - - - - - Ins - I 81086785 81086793 1 15 320.06 - - 7 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 2 6 6 37 37 37 37 6 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725428243 12 83931237 C CT 540 PASS - - - - - Ins - I 83931237 83931244 1 24 479.488 - - 6 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 2 7 2 8 21 29 21 30 2 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725429026 12 86560445 CA C 360 PASS - - - - - Del - D 86560445 86560455 1 12 323.672 - - 9 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 1 5 1 7 21 36 21 36 1 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725429268 12 87413738 TA T 329 PASS - - - - - Del - D 87413738 87413747 1 15 323.673 - - 8 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 2 6 5 23 27 23 27 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725429665 12 88687799 A AT 420 PASS - - - - - Ins - I 88687799 88687808 1 20 373.404 - - 8 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 4 3 4 6 34 36 35 37 4 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725431066 12 92884489 TAA T 660 PASS - - - - - Del - D 92884489 92884494 2 30 593.4 - - 4 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 2 9 5 12 17 31 17 31 5 12 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725433781 12 98882258 A AT 420 PASS AC013418.3 ENST00000501499 r.? - - Ins intronic I 98882258 98882266 1 20 373.404 - - 7 1 1 AC013418.3|ENST00000501499|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC013418.3|ENST00000501499|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 4 3 5 8 20 35 20 35 5 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725434826 12 102105301 A AG 720 PASS CHPT1 CCDS9086.1 r.? - - Ins intronic I 102105301 102105306 1 40 638.314 - - 4 1 1 CHPT1|CCDS9086.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHPT1|CCDS9086.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 9 5 9 39 52 39 53 5 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725435159 12 103039016 AT A 269 PASS - - - - - Del - D 103039016 103039025 1 6 269.727 - - 8 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 5 0 5 0 26 26 26 26 5 0 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725436862 12 107919185 C CT 449 PASS BTBD11 CCDS31893.1 r.? - - Ins intronic I 107919185 107919192 1 24 424.941 - - 6 1 1 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 5 3 5 5 20 16 20 16 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725441850 12 119965648 A AT 434 PASS CCDC60 CCDS9190.1 r.? - - Ins intronic I 119965648 119965658 1 16 424.941 - - 9 1 1 CCDC60|CCDS9190.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC60|CCDS9190.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 15 11 0 0 ./. 7 1 11 4 42 20 42 20 11 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725445282 12 126699326 CG C 300 PASS - - - - - Del - D 126699326 126699329 1 12 269.727 - - 2 1 1 - - ./. 0 0 0 0 14 24 14 24 0 0 ./. 3 2 4 3 36 17 36 17 4 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725445284 12 126704911 C CT 389 PASS - - - - - Ins - I 126704911 126704921 1 14 372.199 - - 9 1 1 - - ./. 0 0 0 0 28 15 28 15 0 0 ./. 6 1 7 1 27 20 27 20 7 1 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725446645 12 129810774 C CT 420 PASS TMEM132D CCDS9266.1 r.? - - Ins intronic I 129810774 129810781 1 20 373.404 - - 6 1 1 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 15 17 0 0 ./. 4 3 4 5 24 29 24 32 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725447017 12 130659094 T TA 720 PASS - - - - - Ins - I 130659094 130659102 1 40 640.12 - - 7 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 9 3 13 7 27 21 27 22 13 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725450247 13 22765009 C CT 540 PASS AL137248.1 ENST00000413646 r.? - - Ins intronic I 22765009 22765017 1 30 478.749 - - 7 1 1 AL137248.1|ENST00000413646|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL137248.1|ENST00000413646|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 4 7 8 26 32 27 32 7 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725450460 13 23336265 G GA 300 PASS - - - - - Ins - I 23336265 23336275 1 12 267.644 - - 9 1 1 - - ./. 0 0 0 0 26 14 26 14 0 0 ./. 3 2 4 5 21 20 21 20 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725451073 13 24628950 GA G 360 PASS - - - - - Del - D 24628950 24628956 1 15 324.785 - - 5 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 2 4 4 6 20 17 20 17 4 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725451320 13 25127739 T TC 370 PASS - - - - - Ins - I 25127739 25127740 1 18 365.069 - - 0 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 2 5 2 7 15 22 16 22 2 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725451868 13 26486827 A AT 660 PASS ATP8A2 CCDS41873.1 r.? - - Ins intronic I 26486827 26486836 1 42 588.817 - - 8 1 1 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP8A2|CCDS41873.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 17 20 17 0 0 ./. 5 6 5 6 21 20 21 20 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725452663 13 28362473 T TA 360 PASS GSX1 CCDS9326.1 r.? - - Ins upstream I 28362473 28362482 1 16 321.173 - - 8 1 1 GSX1|CCDS9326.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 GSX1|CCDS9326.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 15 22 15 22 0 0 ./. 3 3 5 3 22 24 22 25 5 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725453208 13 29694718 G GA 360 PASS MTUS2 CCDS45022.1 r.? - - Ins intronic I 29694718 29694725 1 15 320.571 - - 6 1 1 MTUS2|CCDS45022.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTUS2|CCDS45022.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 2 5 3 29 14 29 14 5 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725457070 13 40365820 A AT 780 PASS COG6 CCDS45042.1 r.? - - Ins downstream I 40365820 40365827 1 50 695.273 - - 6 1 1 COG6|CCDS45042.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 COG6|CCDS45042.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 21 15 22 15 0 0 ./. 9 4 11 6 31 26 31 26 11 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725458232 13 43560065 CA C 569 PASS EPSTI1 CCDS9387.1 r.? - - Del intronic D 43560065 43560069 1 36 533.482 - - 3 1 1 EPSTI1|CCDS9387.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPSTI1|CCDS9387.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 5 5 7 7 16 15 16 15 7 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725460482 13 50228944 A AT 300 PASS - - - - - Ins - I 50228944 50228953 1 12 267.644 - - 8 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 3 4 4 19 22 19 22 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725461599 13 53733064 TC T 300 PASS - - - - - Del - D 53733064 53733068 1 12 253.797 - - 3 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 5 4 11 16 11 16 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725464357 13 62288288 A AG 360 PASS - - - - - Ins - I 62288288 62288289 1 16 321.173 - - 0 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 3 3 6 4 20 18 20 18 6 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725465666 13 65631426 C CCA 360 PASS - - - - - Ins - I 65631426 65631443 2 7 313.948 - - 8 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 6 0 8 1 35 21 35 21 8 1 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725466591 13 69041079 G GTT 360 PASS - - - - - Ins - I 69041079 69041082 2 15 317.561 - - 2 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 4 5 4 19 17 20 17 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725466920 13 69853346 GAA G 420 PASS - - - - - Del - D 69853346 69853351 2 20 378.916 - - 4 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 3 4 8 6 26 22 26 22 8 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725467456 13 70973548 GC G 660 PASS - - - - - Del - D 70973548 70973551 1 40 595.44 - - 2 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 4 7 7 7 24 35 24 35 7 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725468583 13 74132062 G GA 360 PASS - - - - - Ins - I 74132062 74132070 1 12 321.173 - - 7 1 1 - - ./. 0 0 0 0 17 25 17 25 0 0 ./. 1 5 2 6 21 20 21 20 2 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725469029 13 75265255 GAT G 540 PASS - - - - - Del - D 75265255 75265260 2 28 487.178 - - 2 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 3 6 6 7 21 30 21 30 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725469036 13 75294668 A AT 360 PASS - - - - - Ins - I 75294668 75294676 1 16 315.152 - - 7 1 1 - - ./. 0 0 0 0 23 7 23 7 0 0 ./. 3 3 3 4 18 15 18 15 3 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725469454 13 76468712 G GA 300 PASS - - - - - Ins - I 76468712 76468722 1 10 264.634 - - 9 1 1 - - ./. 0 0 0 0 26 13 26 15 0 0 ./. 4 1 6 6 28 18 28 18 6 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725469706 13 77242365 TAC T 329 PASS - - - - - Del - D 77242365 77242368 2 15 322.377 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 4 2 4 2 21 12 21 12 4 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725470226 13 78845103 GTTTA G 418 PASS - - - - - Del - D 78845103 78845111 4 24 431.843 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 5 3 8 16 20 16 20 3 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725472942 13 87172573 G GT 300 PASS - - - - - Ins - I 87172573 87172582 1 12 266.44 - - 8 1 1 - - ./. 0 0 0 0 13 25 13 25 0 0 ./. 2 3 7 4 29 27 29 27 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725472974 13 87293523 AAAGT A 387 PASS - - - - - Del - D 87293523 87293528 4 24 431.241 - - 1 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 5 7 7 32 21 32 21 7 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725473729 13 89912506 T TA 660 PASS - - - - - Ins - I 89912506 89912514 1 42 587.011 - - 7 1 1 - - ./. 0 0 0 0 31 26 31 26 0 0 ./. 5 6 5 7 28 33 28 34 5 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725476523 13 97582598 G GA 480 PASS - - - - - Ins - I 97582598 97582607 1 9 425.22 - - 8 1 1 - - ./. 0 0 0 0 18 28 18 28 0 0 ./. 0 8 1 9 20 29 20 30 1 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725478849 13 103812503 A AT 540 PASS - - - - - Ins - I 103812503 103812513 1 30 477.545 - - 9 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 5 4 6 5 23 26 23 26 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725481649 13 112117799 A AT 600 PASS - - - - - Ins - I 112117799 112117808 1 20 529.87 - - 8 1 1 - - ./. 0 0 0 0 24 22 26 22 0 0 ./. 9 1 14 5 31 11 32 11 14 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725481680 13 112225116 C CA 300 PASS - - - - - Ins - I 112225116 112225125 1 12 267.644 - - 8 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 2 3 3 21 13 21 13 3 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725483153 14 20510674 T TA 300 PASS - - - - - Ins - I 20510674 20510683 1 12 267.627 - - 8 1 1 - - ./. 0 0 0 0 13 16 14 16 0 0 ./. 2 3 4 3 27 28 27 28 4 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725483927 14 22169167 TA T 660 PASS - - - - - Del - D 22169167 22169176 1 42 594.8 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 6 6 13 25 46 25 46 6 13 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725484688 14 23736188 G GT 600 PASS C14orf164 ENST00000399910 r.? - - Ins intronic I 23736188 23736196 1 32 534.652 - - 7 1 1 C14orf164|ENST00000399910|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C14orf164|ENST00000399910|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 26 12 27 0 0 ./. 3 7 4 10 14 39 14 39 4 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725486411 14 28642246 G GA 346 PASS - - - - - Ins - I 28642246 28642255 1 16 321.152 - - 8 1 1 - - ./. 0 0 0 0 18 19 19 19 0 0 ./. 3 3 6 7 44 30 44 30 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725487083 14 30606228 G GA 749 PASS - - - - - Ins - I 30606228 30606238 1 56 692.218 - - 9 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 7 6 13 10 37 27 37 28 13 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725491055 14 40311059 T TC 1260 PASS - - - - - Ins - I 40311059 40311066 1 132 1124.03 - - 6 1 1 - - ./. 0 0 0 0 14 23 15 23 0 0 ./. 11 10 14 10 27 28 28 28 14 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725494048 14 48559741 G GA 420 PASS - - - - - Ins - I 48559741 48559748 1 18 374.678 - - 6 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 2 5 5 29 26 30 26 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725499609 14 63305090 A AATCTCTAAC 319 PASS KCNH5 CCDS9756.1 r.? - - Ins intronic I 63305090 63305100 9 42 535.798 - - 1 1 1 KCNH5|CCDS9756.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH5|CCDS9756.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 6 3 7 45 27 47 28 5 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725499695 14 63615018 C CT 329 PASS - - - - - Ins - I 63615018 63615026 1 15 321.152 - - 7 1 - - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 2 8 3 29 31 30 31 8 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725503430 14 73578580 G GA 660 PASS RBM25 CCDS32113.1 r.? - - Ins intronic I 73578580 73578590 1 42 587.575 - - 9 1 1 RBM25|CCDS32113.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBM25|CCDS32113.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 5 6 8 8 42 32 43 33 8 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725505382 14 77587949 C CA 780 PASS KIAA1737 CCDS9855.1 r.? - - Ins downstream I 77587949 77587951 1 54 694.626 - - 1 1 1 KIAA1737|CCDS9855.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 KIAA1737|CCDS9855.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 12 14 12 0 0 ./. 8 5 10 7 28 14 28 14 10 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725507991 14 84877506 T TA 480 PASS - - - - - Ins - I 84877506 84877515 1 21 427.601 - - 8 1 1 - - ./. 0 0 0 0 26 15 26 15 0 0 ./. 6 2 7 4 23 24 23 24 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725508484 14 86152640 C CA 718 PASS - - - - - Ins - I 86152640 86152645 1 56 694.024 - - 4 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 6 7 8 8 26 27 26 28 8 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725508581 14 86387349 ACTCTT A 476 PASS - - - - - Del - D 86387349 86387363 5 32 541.274 - - 2 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 3 7 3 8 18 27 18 27 3 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725510986 14 92354642 C CA 360 PASS FBLN5 CCDS9898.1 r.? - - Ins intronic I 92354642 92354652 1 16 318.744 - - 9 1 1 FBLN5|CCDS9898.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBLN5|CCDS9898.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 22 22 23 0 0 ./. 3 3 3 4 28 29 29 29 3 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725512236 14 95431354 TG T 540 PASS - - - - - Del - D 95431354 95431359 1 28 487.147 - - 4 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 6 3 6 8 12 21 12 21 6 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725513881 14 100512051 G GT 420 PASS EVL ENST00000402714 r.? - - Ins intronic I 100512051 100512059 1 20 368.657 - - 7 1 1 EVL|ENST00000402714|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EVL|ENST00000402714|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 4 8 8 22 25 23 25 8 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725515373 14 104888304 T TC 358 PASS - - - - - Ins - I 104888304 104888310 1 20 370.463 - - 5 1 1 - - ./. 0 0 0 0 22 11 22 11 0 0 ./. 3 4 5 7 14 21 14 21 5 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725520662 15 31613116 C CT 420 PASS - - - - - Ins - I 31613116 31613126 1 18 374.694 - - 9 1 1 - - ./. 0 0 0 0 28 21 29 21 0 0 ./. 5 2 9 4 24 22 25 22 9 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725525165 15 43950925 ATGC A 685 PASS CKMT1A CCDS32217.1 r.? - - Del intronic D 43950925 43950930 3 63 754.807 - - 1 1 1 CKMT1A|CCDS32217.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CKMT1A|CCDS32217.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 8 19 8 0 0 ./. 8 6 10 6 19 11 19 11 10 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725528773 15 55193609 CAT C 389 PASS - - - - - Del - D 55193609 55193615 2 20 379.511 - - 2 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 4 5 4 17 13 17 13 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725538003 15 80932927 TG T 929 PASS - - - - - Del - D 80932927 80932932 1 72 866.249 - - 4 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 5 11 7 11 23 24 23 24 7 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725538384 15 82227553 AT A 480 PASS - - - - - Del - D 82227553 82227562 1 25 432.522 - - 8 1 1 - - ./. 0 0 0 0 24 17 24 17 0 0 ./. 4 4 5 6 25 33 25 33 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725540067 15 87802626 C CT 472 PASS - - - - - Ins - I 87802626 87802634 1 30 481.32 - - 7 1 1 - - ./. 0 0 0 0 21 17 22 17 0 0 ./. 4 5 8 5 31 27 33 29 8 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725540295 15 88960385 T TA 720 PASS - - - - - Ins - I 88960385 88960393 1 40 643.365 - - 7 1 1 - - ./. 0 0 0 0 18 14 18 15 0 0 ./. 9 3 11 4 46 23 46 23 11 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725542889 15 96348311 A AT 660 PASS - - - - - Ins - I 96348311 96348320 1 42 587.945 - - 8 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 6 5 10 7 43 34 44 34 10 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725544685 15 101518295 T TA 300 PASS LRRK1 CCDS42086.1 r.? - - Ins intronic I 101518295 101518305 1 12 262.65 - - 9 1 1 LRRK1|CCDS42086.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRK1|CCDS42086.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 16 25 16 0 0 ./. 2 3 0 1 28 30 28 30 2 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725545925 16 2066162 G GT 540 PASS NPW CCDS42102.1 r.? - - Ins upstream I 2066162 2066171 1 28 475.305 - - 8 1 1 NPW|CCDS42102.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 NPW|CCDS42102.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 15 14 17 14 0 0 ./. 6 3 7 7 47 35 48 35 7 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725547837 16 5501289 G GATAGA 329 PASS - - - - - Ins - I 5501289 5501296 5 16 306.836 - - 1 1 1 - - ./. 0 0 0 0 13 15 13 16 0 0 ./. 3 3 3 4 38 28 38 28 3 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725548240 16 6383042 C CT 509 PASS - - - - - Ins - I 6383042 6383052 1 30 481.928 - - 9 1 1 - - ./. 0 0 0 0 30 25 30 25 0 0 ./. 4 5 6 7 27 44 28 45 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725548472 16 6812340 GC G 480 PASS - - - - - Del - D 6812340 6812342 1 24 433.197 - - 1 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 3 5 5 6 24 44 24 44 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725554021 16 17854164 A AT 389 PASS - - - - - Ins - I 17854164 17854172 1 14 371.823 - - 7 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 1 6 1 7 16 27 17 27 1 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725555084 16 20328532 CA C 360 PASS GP2 CCDS42128.1 r.1575+2delu c.1425+2delt p.? Del ess splice D 20328532 20328534 1 15 324.898 - - 1 1 1 GP2|CCDS42128.1|r.1575+2delu|c.1425+2delt|p.?|protein_coding:CDS:extended_cis_splice_site:deletion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000159:SO:CGPX03:SO:0001576 GP2|CCDS42128.1|r.1575+2delu|c.1425+2delt|p.?|protein_coding:CDS:extended_cis_splice_site:deletion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000159:SO:CGPX03:SO:0001576 ./. 0 0 0 0 22 9 22 9 0 0 ./. 2 4 2 5 19 19 19 19 2 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725555229 16 20822820 A AT 540 PASS ENSG00000005189 CCDS10591.1 r.? - - Ins intronic I 20822820 20822829 1 28 474.101 - - 8 1 1 ENSG00000005189|CCDS10591.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000005189|CCDS10591.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 17 0 0 ./. 3 6 6 8 30 24 30 24 6 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725555897 16 22742717 C CCCA 714 PASS ENSG00000224154 ENST00000430965 r.? - - Ins intronic I 22742717 22742724 3 72 783.948 - - 2 1 1 ENSG00000224154|ENST00000430965|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000224154|ENST00000430965|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 12 0 0 ./. 8 7 11 9 42 35 42 35 11 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725556242 16 23641218 GT G 300 PASS PALB2 CCDS32406.1 r.2456delA c.2256delA p.R753fs*11 Del frameshift D 23641218 23641220 1 12 270.748 - - 1 1 1 PALB2|CCDS32406.1|r.2456delA|c.2256delA|p.R753fs*11|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PALB2|CCDS32406.1|r.2456delA|c.2256delA|p.R753fs*11|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 18 9 18 9 0 0 ./. 3 2 7 2 31 30 31 30 7 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725558885 16 29865888 C CA 718 PASS CDIPT CCDS10657.1 r.? - - Ins downstream I 29865888 29865896 1 54 695.516 - - 7 1 1 CDIPT|CCDS10657.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CDIPT|CCDS10657.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 18 12 19 0 0 ./. 5 8 9 9 28 25 28 26 9 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725563189 16 51268938 CTTCTTAACACAAATGTTT C 319 PASS - - - - - Del - D 51268938 51268958 18 40 595.646 - - 1 1 1 - - ./. 0 0 0 0 23 10 23 10 0 0 ./. 7 4 6 4 12 7 13 7 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725567337 16 67130225 AT A 449 PASS CBFB CCDS10827.1 r.? - - Del intronic D 67130225 67130227 1 21 432.595 - - 1 1 1 CBFB|CCDS10827.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CBFB|CCDS10827.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 6 2 6 2 17 8 17 8 6 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725570361 16 78218541 AT A 600 PASS WWOX CCDS42196.1 r.? - - Del intronic D 78218541 78218544 1 36 541.496 - - 2 1 1 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 5 8 5 14 12 14 12 8 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725572371 16 85139246 TA T 569 PASS FAM92B CCDS32500.1 r.? - - Del intronic D 85139246 85139248 1 32 541.496 - - 1 1 1 FAM92B|CCDS32500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM92B|CCDS32500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 7 3 9 4 15 10 15 10 9 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725580800 17 21718568 C CT 480 PASS - - - - - Ins - I 21718568 21718577 1 24 428.342 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 3 6 4 19 15 19 15 6 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725584613 17 33808848 TTTTG T 480 PASS SLFN12L CCDS45649.1 r.? - - Del intronic D 33808848 33808864 4 24 431.955 - - 3 1 - SLFN12L|CCDS45649.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLFN12L|CCDS45649.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 28 21 28 0 0 ./. 3 5 5 6 28 27 28 27 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725585257 17 35634933 A AT 900 PASS ACACA CCDS11317.1 r.? - - Ins intronic I 35634933 35634943 1 72 785.08 - - 9 1 1 ACACA|CCDS11317.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACACA|CCDS11317.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 21 14 21 0 0 ./. 8 7 8 8 34 31 34 31 8 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725585261 17 35642050 G GA 360 PASS ACACA CCDS11317.1 r.? - - Ins intronic I 35642050 35642059 1 16 321.257 - - 8 1 1 ACACA|CCDS11317.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACACA|CCDS11317.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 3 3 7 6 30 35 30 35 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725591977 17 50696403 GT G 420 PASS - - - - - Del - D 50696403 50696413 1 18 378.412 - - 9 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 2 5 5 6 30 30 30 30 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725592138 17 50994889 G GA 360 PASS - - - - - Ins - I 50994889 50994896 1 12 321.257 - - 6 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 5 1 8 2 33 23 33 23 8 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725592209 17 51176911 GT G 1140 PASS - - - - - Del - D 51176911 51176915 1 104 1026.95 - - 3 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 12 8 13 22 28 22 28 8 13 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725594674 17 57961296 TC T 449 PASS TUBD1 CCDS11620.1 r.? - - Del intronic D 57961296 57961299 1 16 433.159 - - 2 1 1 TUBD1|CCDS11620.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TUBD1|CCDS11620.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 7 1 9 2 41 11 41 11 9 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725596144 17 61520335 GA G 360 PASS CYB561 CCDS11636.1 r.? - - Del intronic D 61520335 61520338 1 15 324.267 - - 2 1 1 CYB561|CCDS11636.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CYB561|CCDS11636.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 2 4 5 5 18 16 18 16 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725598180 17 65947308 CCT C 300 PASS BPTF CCDS11673.1 r.? - - Del intronic D 65947308 65947325 2 12 270.724 - - 8 1 1 BPTF|CCDS11673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BPTF|CCDS11673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 2 3 2 20 20 20 20 3 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725599853 17 70126789 G GA 300 PASS SOX9 CCDS11689.1 r.? - - Ins downstream I 70126789 70126799 1 12 267.714 - - 9 1 1 SOX9|CCDS11689.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SOX9|CCDS11689.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 13 24 13 24 0 0 ./. 3 2 6 4 15 28 15 28 6 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725600631 17 71952453 C CT 540 PASS - - - - - Ins - I 71952453 71952455 1 28 481.885 - - 1 1 1 - - ./. 0 0 0 0 18 19 18 20 0 0 ./. 3 6 6 7 25 22 25 22 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725601971 17 74546047 C CT 480 PASS - - - - - Ins - I 74546047 74546056 1 21 425.934 - - 8 1 - - - ./. 0 0 0 0 19 23 19 23 0 0 ./. 6 2 12 10 30 27 31 27 12 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725607361 18 8235585 A AT 660 PASS PTPRM CCDS11840.1 r.? - - Ins intronic I 8235585 8235595 1 42 585.661 - - 9 1 1 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 25 28 26 0 0 ./. 6 5 8 8 26 31 26 31 8 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725609840 18 18713851 G GA 540 PASS - - - - - Ins - I 18713851 18713859 1 28 482.133 - - 7 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 6 3 9 3 30 20 31 21 9 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725612611 18 26336553 GA G 780 PASS - - - - - Del - D 26336553 26336560 1 56 698.22 - - 6 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 7 6 9 9 22 24 22 24 9 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725616590 18 39516221 TC T 540 PASS - - - - - Del - D 39516221 39516224 1 30 486.949 - - 2 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 5 4 7 21 22 21 22 4 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725617511 18 42485836 ACTC A 418 PASS SETBP1 CCDS11923.2 r.? - - Del intronic D 42485836 42485840 3 24 432.175 - - 1 1 1 SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 5 4 7 18 33 18 33 4 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725617884 18 43688505 ATTC A 269 PASS ATP5A1 CCDS11927.1 r.? - - Del upstream D 43688505 43688517 3 6 270.862 - - 3 1 1 ATP5A1|CCDS11927.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HAUS1|CCDS11928.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 0 5 1 5 17 21 17 21 1 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725619889 18 49289043 G GT 420 PASS - - - - - Ins - I 49289043 49289050 1 18 374.992 - - 6 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 2 5 2 9 23 43 23 43 2 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725619893 18 49325977 A AT 1109 PASS - - - - - Ins - I 49325977 49325984 1 68 1005.79 - - 6 1 1 - - ./. 0 0 0 0 27 18 27 19 0 0 ./. 3 16 7 22 37 45 37 45 7 22 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725620502 18 51044986 A AT 480 PASS DCC CCDS11952.1 r.? - - Ins intronic I 51044986 51044992 1 16 428.563 - - 5 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 7 1 7 1 29 15 29 15 7 1 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725622490 18 55895474 G GAC 509 PASS NEDD4L CCDS45872.1 r.? - - Ins intronic I 55895474 55895480 2 28 476.112 - - 2 1 1 NEDD4L|CCDS45872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NEDD4L|CCDS45872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 6 3 6 21 34 21 34 3 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725622893 18 56834657 T TA 1080 PASS - - - - - Ins - I 56834657 56834665 1 84 963.062 - - 7 1 1 - - ./. 0 0 0 0 15 23 15 23 0 0 ./. 13 5 16 9 43 36 43 36 16 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725622896 18 56837963 C CA 389 PASS - - - - - Ins - I 56837963 56837973 1 20 372.584 - - 9 1 - - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 4 3 5 3 48 15 48 15 5 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725623971 18 59520236 T TA 420 PASS RNF152 CCDS11978.1 r.? - - Ins intronic I 59520236 59520242 1 18 374.992 - - 5 1 1 RNF152|CCDS11978.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RNF152|CCDS11978.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 2 5 3 7 41 33 41 34 3 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725625427 18 63052815 T TA 480 PASS - - - - - Ins - I 63052815 63052823 1 21 428.563 - - 7 1 1 - - ./. 0 0 0 0 12 12 13 12 0 0 ./. 2 6 3 7 27 28 27 29 3 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725625501 18 63213043 C CAGAA 418 PASS - - - - - Ins - I 63213043 63213048 4 24 412.307 - - 1 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 3 5 4 5 36 42 36 42 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725625638 18 63518500 TAC T 300 PASS CDH7 CCDS11993.1 r.? - - Del intronic D 63518500 63518518 2 12 270.26 - - 8 1 1 CDH7|CCDS11993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH7|CCDS11993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 2 3 2 44 20 44 20 3 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725628076 18 68991397 GT G 869 PASS - - - - - Del - D 68991397 68991402 1 72 812.586 - - 4 1 1 - - ./. 0 0 0 0 20 21 20 21 0 0 ./. 8 7 14 8 36 34 36 34 14 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725630722 18 75473175 TG T 660 PASS - - - - - Del - D 75473175 75473180 1 40 595.896 - - 4 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 7 4 9 5 34 17 34 17 9 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725630746 18 75608221 TA T 360 PASS - - - - - Del - D 75608221 75608227 1 16 325.034 - - 5 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 3 3 4 8 35 32 35 32 4 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725641980 19 22919870 G GA 269 PASS - - - - - Ins - I 22919870 22919873 1 12 268.206 - - 2 1 1 - - ./. 0 0 0 0 21 29 21 30 0 0 ./. 2 3 9 17 19 28 19 28 9 17 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725642687 19 24342224 G GT 840 PASS - - - - - Ins - I 24342224 24342231 1 63 748.57 - - 6 1 1 - - ./. 0 0 0 0 19 21 19 21 0 0 ./. 8 6 10 7 24 22 24 22 10 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725643129 19 28582052 C CA 368 PASS - - - - - Ins - I 28582052 28582060 1 20 375.489 - - 7 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 3 4 4 4 20 28 20 28 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725643496 19 29565202 CT C 329 PASS - - - - - Del - D 29565202 29565212 1 15 323.052 - - 9 1 - - - ./. 0 0 0 0 26 24 26 24 0 0 ./. 2 4 5 7 18 18 18 18 5 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725646747 19 38837970 AT A 329 PASS CATSPERG CCDS12514.2 r.? - - Del intronic D 38837970 38837973 1 12 324.256 - - 2 1 1 CATSPERG|CCDS12514.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CATSPERG|CCDS12514.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 1 8 3 27 13 27 13 8 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725647612 19 41041543 AATT A 790 PASS SPTBN4 CCDS12559.1 r.? - - Del intronic D 41041543 41041551 3 72 854.046 - - 2 1 1 SPTBN4|CCDS12559.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPTBN4|CCDS12559.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 11 5 12 7 22 15 22 16 12 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725656031 2 1948588 T TA 600 PASS MYT1L CCDS46222.1 r.? - - Ins intronic I 1948588 1948590 1 35 531.599 - - 1 1 1 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 4 6 7 17 17 17 17 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725658312 2 9796474 C CA 360 PASS - - - - - Ins - I 9796474 9796483 1 15 316.551 - - 8 1 - - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 2 4 6 5 24 19 24 19 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725659297 2 12194800 T TA 540 PASS - - - - - Ins - I 12194800 12194809 1 30 476.633 - - 8 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 4 8 5 24 19 24 19 8 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725659840 2 14197041 GA G 360 PASS - - - - - Del - D 14197041 14197050 1 15 322.572 - - 8 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 4 2 5 4 28 13 28 13 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725660678 2 16955346 G GA 360 PASS - - - - - Ins - I 16955346 16955354 1 12 318.96 - - 7 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 1 9 3 27 19 27 20 9 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725663814 2 27149152 CT C 480 PASS DPYSL5 CCDS1730.1 r.? - - Del intronic D 27149152 27149155 1 24 430.096 - - 2 1 1 DPYSL5|CCDS1730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPYSL5|CCDS1730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 5 3 7 5 21 13 21 13 7 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725664894 2 30017683 CATAACAGAT C 290 PASS ALK CCDS33172.1 r.? - - Del intronic D 30017683 30017696 9 35 537.62 - - 1 1 1 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 4 6 5 22 18 22 18 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725666237 2 33981139 GC G 360 PASS - - - - - Del - D 33981139 33981142 1 12 322.572 - - 2 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 5 1 6 2 21 9 21 9 6 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725667519 2 37430539 TTGAC T 569 PASS CEBPZ CCDS1787.1 r.? - - Del intronic D 37430539 37430547 4 20 537.62 - - 1 1 1 CEBPZ|CCDS1787.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000218739|ENST00000402297|r.1814_1817delUGAC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 9 3 11 16 21 16 21 3 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725668326 2 39272844 AT A 269 PASS SOS1 CCDS1802.1 r.? - - Del intronic D 39272844 39272850 1 10 268.81 - - 5 1 1 SOS1|CCDS1802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SOS1|CCDS1802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 1 4 4 4 18 16 18 16 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725672572 2 52244957 TG T 300 PASS - - - - - Del - D 52244957 52244961 1 12 268.81 - - 3 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 3 7 14 20 14 20 3 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725675035 2 60856167 G GA 360 PASS - - - - - Ins - I 60856167 60856177 1 16 316.551 - - 9 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 3 3 6 6 18 22 18 23 6 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725677720 2 69168419 C CT 480 PASS GKN2 CCDS33215.1 r.? - - Ins downstream I 69168419 69168426 1 24 425.279 - - 6 1 1 GKN2|CCDS33215.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 GKN2|CCDS33215.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 23 12 23 0 0 ./. 5 3 7 5 34 29 35 29 7 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725680424 2 77718082 A AT 420 PASS LRRTM4 CCDS46346.1 r.? - - Ins intronic I 77718082 77718092 1 14 371.518 - - 9 1 1 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 19 25 19 0 0 ./. 1 6 1 9 21 21 21 21 1 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725681206 2 80241477 GAC G 269 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 80241477 80241481 2 12 268.81 - - 1 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 2 8 2 27 15 27 16 8 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725682443 2 84779191 AG A 300 PASS DNAH6 CCDS46348.1 r.? - - Del intronic D 84779191 84779193 1 6 259.177 - - 1 1 1 DNAH6|CCDS46348.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH6|CCDS46348.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 5 0 6 0 27 12 27 12 6 0 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725686475 2 99710385 C CA 720 PASS TSGA10 CCDS2037.1 r.? - - Ins intronic I 99710385 99710392 1 48 635.511 - - 6 1 1 TSGA10|CCDS2037.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TSGA10|CCDS2037.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 29 18 29 0 0 ./. 5 7 9 8 26 30 28 30 9 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725693864 2 124525626 TC T 540 PASS - - - - - Del - D 124525626 124525629 1 28 483.858 - - 2 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 6 4 11 20 35 20 35 4 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725697422 2 133973840 A AT 540 PASS NCKAP5 CCDS46418.1 r.? - - Ins intronic I 133973840 133973850 1 30 473.623 - - 9 1 1 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NCKAP5|CCDS46418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 18 25 18 0 0 ./. 4 5 5 9 30 30 32 30 5 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725698194 2 137204994 A AT 360 PASS - - - - - Ins - I 137204994 137205003 1 15 318.96 - - 8 1 1 - - ./. 0 0 0 0 22 25 22 25 0 0 ./. 4 2 6 2 19 21 20 22 6 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725700795 2 145534199 AT A 780 PASS - - - - - Del - D 145534199 145534203 1 56 695.294 - - 3 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 6 7 6 7 22 22 22 22 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725701373 2 147544441 G GA 420 PASS - - - - - Ins - I 147544441 147544451 1 20 364.895 - - 9 1 1 - - ./. 0 0 0 0 23 15 23 15 0 0 ./. 4 3 5 4 26 21 26 21 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725703160 2 153390155 G GA 300 PASS FMNL2 CCDS46429.1 r.? - - Ins intronic I 153390155 153390165 1 10 265.8 - - 9 1 1 FMNL2|CCDS46429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMNL2|CCDS46429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 13 26 13 0 0 ./. 4 1 4 1 36 27 36 27 4 1 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725703839 2 155356241 A AT 540 PASS - - - - - Ins - I 155356241 155356251 1 28 478.439 - - 9 1 1 - - ./. 0 0 0 0 26 17 26 18 0 0 ./. 3 6 5 8 17 31 17 31 5 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725705159 2 159799458 A AT 420 PASS - - - - - Ins - I 159799458 159799466 1 18 372.12 - - 7 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 2 7 4 28 30 29 30 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725705770 2 161352882 AAATT A 358 PASS RBMS1 CCDS2213.1 r.? - - Del upstream D 161352882 161352888 4 20 376.334 - - 1 1 1 RBMS1|CCDS2213.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RBMS1|CCDS2213.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 3 6 4 26 20 26 20 6 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725710265 2 174871595 A AT 329 PASS - - - - - Ins - I 174871595 174871605 1 12 308.123 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 1 8 3 35 12 35 12 8 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725716443 2 195134861 GA G 720 PASS - - - - - Del - D 195134861 195134865 1 49 639.123 - - 3 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 6 6 7 10 20 29 20 29 7 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725717135 2 197172482 A AT 600 PASS HECW2 CCDS33354.1 r.? - - Ins intronic I 197172482 197172492 1 32 531.599 - - 9 1 1 HECW2|CCDS33354.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HECW2|CCDS33354.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 7 3 8 4 24 23 25 23 8 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725718185 2 200474940 AGT A 269 PASS - - - - - Del - D 200474940 200474945 2 10 263.993 - - 2 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 1 5 3 17 13 17 13 5 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725719241 2 203333719 CT C 300 PASS BMPR2 CCDS33361.1 r.? - - Del intronic D 203333719 203333729 1 12 267.004 - - 9 1 - BMPR2|CCDS33361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BMPR2|CCDS33361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 3 2 3 27 24 27 24 2 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725719623 2 204324684 G GT 1200 PASS RAPH1 CCDS2359.1 r.1337_1338insa c.1037_1038insA p.N346fs*30 Ins frameshift I 204324684 204324689 1 120 1061.99 - - 4 1 1 RAPH1|CCDS2359.1|r.1337_1338insa|c.1037_1038insA|p.N346fs*30|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 RAPH1|CCDS2359.1|r.1337_1338insa|c.1037_1038insA|p.N346fs*30|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 26 20 26 20 0 0 ./. 9 11 17 15 27 21 27 22 17 15 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725720057 2 206027920 CT C 300 PASS PARD3B CCDS42806.1 r.? - - Del intronic D 206027920 206027924 1 6 268.81 - - 3 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 0 5 1 10 10 33 10 33 1 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725721202 2 209255648 A AT 420 PASS PTH2R ENST00000413482 r.? - - Ins intronic I 209255648 209255655 1 20 372.12 - - 6 1 1 PTH2R|ENST00000413482|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTH2R|ENST00000413482|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 19 18 0 0 ./. 3 4 4 5 19 19 19 19 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725722513 2 213703192 C CT 360 PASS - - - - - Ins - I 213703192 213703202 1 15 318.96 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 4 3 4 19 24 19 24 3 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725729578 2 233934959 A AT 389 PASS INPP5D ENST00000359570 r.? - - Ins intronic I 233934959 233934969 1 18 372.12 - - 9 1 1 INPP5D|ENST00000359570|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 INPP5D|ENST00000359570|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 14 25 14 0 0 ./. 5 2 8 3 21 27 21 27 8 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725730852 2 237993946 G GA 420 PASS COPS8 CCDS2517.1 r.? - - Ins upstream I 237993946 237993956 1 20 370.915 - - 9 1 1 COPS8|CCDS2517.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 COPS8|CCDS2517.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 4 5 5 13 26 13 26 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725733058 20 1947877 T TTA 360 PASS - - - - - Ins - I 1947877 1947880 2 15 318.432 - - 1 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 2 5 2 23 23 23 23 5 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725737635 20 13620335 G GT 360 PASS TASP1 CCDS13116.1 r.? - - Ins upstream I 13620335 13620343 1 15 320.238 - - 7 1 1 TASP1|CCDS13116.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 TASP1|CCDS13116.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 23 9 23 9 0 0 ./. 2 4 3 8 17 27 18 27 3 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725738205 20 14968494 G GAT 480 PASS MACROD2 CCDS13120.2 r.? - - Ins intronic I 14968494 14968510 2 21 423.372 - - 7 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 15 20 15 0 0 ./. 6 2 6 2 30 40 31 40 6 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725738289 20 15136981 G GA 480 PASS MACROD2 CCDS13120.2 r.? - - Ins intronic I 15136981 15136990 1 24 429.392 - - 8 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 15 28 15 0 0 ./. 3 5 7 6 26 19 26 19 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725738418 20 15510556 AG A 420 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 15510556 15510559 1 20 379.933 - - 2 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 23 11 23 0 0 ./. 4 3 5 6 31 17 31 17 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725740135 20 20253204 AC A 360 PASS C20orf26 CCDS33447.1 r.? - - Del intronic D 20253204 20253210 1 16 324.452 - - 5 1 1 C20orf26|CCDS33447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C20orf26|CCDS33447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 3 4 4 23 19 23 19 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725740664 20 22180771 G GGGGA 495 PASS - - - - - Ins - I 22180771 22180780 4 30 465.004 - - 2 1 1 - - ./. 0 0 0 0 17 21 17 22 0 0 ./. 5 4 5 5 31 30 31 30 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725744349 20 31400092 G GTA 300 PASS DNMT3B CCDS13205.1 r.? - - Ins downstream I 31400092 31400094 2 10 265.36 - - 0 1 1 DNMT3B|CCDS13205.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 DNMT3B|CCDS13205.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 18 7 19 7 0 0 ./. 4 1 5 1 26 19 26 23 5 1 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725744691 20 32297377 TGAGAG T 298 PASS PXMP4 CCDS13225.1 r.? - - Del intronic D 32297377 32297385 5 12 325.657 - - 1 1 1 PXMP4|CCDS13225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PXMP4|CCDS13225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 5 2 5 14 27 14 27 2 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725745476 20 33786684 A AT 540 PASS - - - - - Ins - I 33786684 33786691 1 28 480.658 - - 6 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 6 3 7 6 38 24 39 24 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725745597 20 34013305 TG T 540 PASS - - - - - Del - D 34013305 34013308 1 30 488.485 - - 2 1 1 - - ./. 0 0 0 0 28 15 28 15 0 0 ./. 5 4 6 5 25 27 25 27 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725746247 20 35554651 T TA 420 PASS SAMHD1 CCDS13288.1 r.? - - Ins intronic I 35554651 35554660 1 20 372.106 - - 8 1 1 SAMHD1|CCDS13288.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SAMHD1|CCDS13288.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 4 5 9 35 47 35 47 5 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725747126 20 38031821 T TA 629 PASS - - - - - Ins - I 38031821 38031830 1 40 589.812 - - 8 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 7 4 7 4 30 29 31 29 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725752933 20 52938975 G GA 300 PASS - - - - - Ins - I 52938975 52938985 1 6 268.37 - - 9 1 1 - - ./. 0 0 0 0 20 12 20 13 0 0 ./. 5 0 5 0 55 34 55 34 5 0 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725753339 20 54135043 TG T 749 PASS - - - - - Del - D 54135043 54135046 1 54 704.385 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 8 5 14 15 30 32 30 32 14 15 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725753667 20 54981430 A AT 509 PASS CSTF1 CCDS13452.1 r.? - - Ins downstream I 54981430 54981439 1 18 478.852 - - 8 1 1 CSTF1|CCDS13452.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CSTF1|CCDS13452.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 21 21 21 21 0 0 ./. 1 8 3 14 29 50 29 50 3 14 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725755203 20 59578837 G GA 300 PASS - - - - - Ins - I 59578837 59578846 1 12 267.768 - - 8 1 1 - - ./. 0 0 0 0 18 28 18 28 0 0 ./. 2 3 3 5 16 30 16 30 3 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725755235 20 59693342 TAC T 420 PASS - - - - - Del - D 59693342 59693346 2 20 379.933 - - 1 1 1 - - ./. 0 0 0 0 27 18 27 18 0 0 ./. 4 3 6 4 21 21 21 21 6 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725756047 20 62300868 AAAG A 379 PASS RTEL1 CCDS13531.1 r.? - - Del intronic D 62300868 62300872 3 30 486.077 - - 1 1 1 RTEL1|CCDS13531.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RTEL1|CCDS13531.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 4 7 5 42 31 42 32 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725761695 21 18666438 T TA 540 PASS - - - - - Ins - I 18666438 18666445 1 30 480.247 - - 6 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 5 4 6 5 23 20 23 20 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725762850 21 21486688 C CT 420 PASS - - - - - Ins - I 21486688 21486695 1 20 376.335 - - 6 1 1 - - ./. 0 0 0 0 22 21 22 22 0 0 ./. 4 3 9 7 29 20 30 20 9 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725765102 21 27177952 G GT 329 PASS AP001441.1 ENST00000509807 r.? - - Ins intronic I 27177952 27177962 1 15 310.531 - - 9 1 - AP001441.1|ENST00000509807|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AP001441.1|ENST00000509807|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 23 10 23 0 0 ./. 2 4 5 10 23 44 23 44 5 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725769631 21 38966294 CT C 360 PASS - - - - - Del - D 38966294 38966296 1 16 324.379 - - 1 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 3 4 4 19 12 19 12 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725772210 21 46158021 TA T 420 PASS - - - - - Del - D 46158021 46158024 1 20 380.549 - - 2 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 3 5 4 22 14 22 14 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725774182 22 19530256 AT A 600 PASS AC000068.1 ENST00000514976 r.? - - Del intronic D 19530256 19530259 1 36 545.767 - - 2 1 1 AC000068.1|ENST00000514976|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC000068.1|ENST00000514976|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 5 7 6 19 13 19 13 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725775988 22 26177722 C CGCGTG 718 PASS MYO18B ENST00000407587 r.2239_2240insgcgug c.2239_2240insGCGTG p.R750fs*29 Ins frameshift I 26177722 26177730 5 56 669.159 - - 1 1 1 MYO18B|ENST00000407587|r.2239_2240insgcgug|c.2239_2240insGCGTG|p.R750fs*29|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 MYO18B|ENST00000407587|r.2239_2240insgcgug|c.2239_2240insGCGTG|p.R750fs*29|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 20 20 20 21 0 0 ./. 7 6 7 5 19 14 20 15 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725776773 22 29363476 AC A 567 PASS ZNRF3 CCDS42999.1 r.? - - Del intronic D 29363476 29363479 1 30 600.343 - - 2 1 1 ZNRF3|CCDS42999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNRF3|CCDS42999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 9 5 9 8 12 8 12 5 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725777818 22 32566869 TC T 840 PASS - - - - - Del - D 32566869 32566871 1 55 764.073 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 10 5 13 11 14 11 14 5 13 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725779244 22 37424768 T TA 420 PASS MPST CCDS13939.1 r.? - - Ins intronic I 37424768 37424770 1 20 377.822 - - 1 1 1 MPST|CCDS13939.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MPST|CCDS13939.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 17 17 18 0 0 ./. 3 4 4 6 9 10 9 10 4 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725780471 22 41913526 CACAG C 389 PASS ACO2 CCDS14017.1 r.858-4_858-1delacag c.836-4_836-1delacag p.? Del ess splice D 41913526 41913531 4 18 381.435 - - 1 1 1 ACO2|CCDS14017.1|r.858-4_858-1delacag|c.836-4_836-1delacag|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 ACO2|CCDS14017.1|r.858-4_858-1delacag|c.836-4_836-1delacag|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 2 8 2 16 6 16 6 8 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725782647 22 49233200 C CACACAAGTGTCCTCACACAAGT 290 PASS FAM19A5 ENST00000336769 r.? - - Ins intronic I 49233200 49233206 22 32 407.293 - - 0 1 - FAM19A5|ENST00000336769|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM19A5|ENST00000336769|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 13 8 16 0 0 ./. 3 7 0 0 40 51 45 54 3 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725790945 3 19406074 C CA 697 PASS KCNH8 CCDS2632.1 r.? - - Ins intronic I 19406074 19406081 1 49 636.259 - - 6 1 1 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH8|CCDS2632.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 6 6 7 8 33 44 33 44 7 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725792312 3 23530714 CTTTA C 389 PASS UBE2E2 CCDS2637.1 r.? - - Del intronic D 23530714 23530724 4 20 376.771 - - 2 1 1 UBE2E2|CCDS2637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBE2E2|CCDS2637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 4 4 6 10 21 10 21 4 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725793090 3 25640214 AAC A 269 PASS TOP2B CCDS46776.1 r.? - - Del intronic D 25640214 25640219 2 12 269.122 - - 2 1 1 TOP2B|CCDS46776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TOP2B|CCDS46776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 3 3 3 31 28 31 28 3 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725794070 3 28645606 CA C 300 PASS - - - - - Del - D 28645606 28645616 1 12 268.52 - - 9 1 1 - - ./. 0 0 0 0 23 15 23 15 0 0 ./. 3 2 3 3 26 22 26 22 3 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725794129 3 28803942 GA G 780 PASS - - - - - Del - D 28803942 28803948 1 56 699.115 - - 5 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 7 6 11 7 33 25 33 25 11 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725797313 3 38365505 A AT 269 PASS - - - - - Ins - I 38365505 38365515 1 10 265.509 - - 9 1 1 - - ./. 0 0 0 0 26 19 26 20 0 0 ./. 4 1 6 2 29 25 29 25 6 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725798085 3 40984466 G GT 989 PASS - - - - - Ins - I 40984466 40984474 1 48 901.769 - - 7 1 1 - - ./. 0 0 0 0 23 14 24 14 0 0 ./. 15 2 18 8 49 22 50 22 19 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725799128 3 43819795 T TAGAG 778 PASS - - - - - Ins - I 43819795 43819800 4 60 717.418 - - 2 1 1 - - ./. 0 0 0 0 15 13 16 13 0 0 ./. 9 5 10 7 29 18 29 18 10 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725800175 3 47672710 AG A 809 PASS SMARCC1 CCDS2758.1 r.? - - Del intronic D 47672710 47672716 1 63 746.919 - - 5 1 1 SMARCC1|CCDS2758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMARCC1|CCDS2758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 20 22 20 0 0 ./. 8 6 10 10 12 11 12 11 10 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725808125 3 76142066 TTGCATTC TTCA 261 PASS ROBO2 ENST00000487694 r.? - - Complex intronic DI 76142067 76142073 7 28 0 - - 0 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 6 3 0 0 21 10 21 10 6 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725808477 3 77573645 A AATAATT 348 PASS ROBO2 CCDS43109.1 r.? - - Ins intronic I 77573645 77573647 6 40 602.544 - - 0 1 1 ROBO2|CCDS43109.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROBO2|CCDS43109.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 12 23 12 0 0 ./. 3 9 3 7 8 17 9 19 3 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725810438 3 85914241 C CT 480 PASS CADM2 CCDS33792.1 r.? - - Ins intronic I 85914241 85914243 1 21 421.564 - - 1 1 1 CADM2|CCDS33792.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CADM2|CCDS33792.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 2 6 2 9 6 17 6 17 2 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725811613 3 93918555 C CT 660 PASS - - - - - Ins - I 93918555 93918564 1 42 576.414 - - 8 1 1 - - ./. 0 0 0 0 20 17 21 17 0 0 ./. 5 6 10 7 32 27 33 27 10 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725811924 3 94719334 T TA 300 PASS - - - - - Ins - I 94719334 94719341 1 12 263.703 - - 6 1 1 - - ./. 0 0 0 0 16 12 16 13 0 0 ./. 3 2 4 2 28 17 29 17 4 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725812938 3 97498404 G GT 660 PASS ARL6 CCDS2928.1 r.? - - Ins intronic I 97498404 97498406 1 40 583.037 - - 1 1 1 ARL6|CCDS2928.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARL6|CCDS2928.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 16 0 0 ./. 4 7 5 7 31 28 31 28 5 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725813274 3 98335011 T TA 420 PASS - - - - - Ins - I 98335011 98335018 1 14 369.546 - - 6 1 1 - - ./. 0 0 0 0 16 16 16 17 0 0 ./. 6 1 9 1 37 16 37 16 9 1 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725813990 3 100630340 C CT 569 PASS ABI3BP CCDS46880.1 r.? - - Ins intronic I 100630340 100630349 1 35 532.223 - - 8 1 1 ABI3BP|CCDS46880.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABI3BP|CCDS46880.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 26 22 27 0 0 ./. 6 4 7 3 33 26 33 26 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725814573 3 101799768 GT G 480 PASS - - - - - Del - D 101799768 101799772 1 16 419.758 - - 3 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 7 10 10 22 34 22 34 10 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725815666 3 104719186 G GT 420 PASS - - - - - Ins - I 104719186 104719194 1 20 372.556 - - 7 1 1 - - ./. 0 0 0 0 20 23 21 23 0 0 ./. 3 4 4 5 21 32 21 32 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725816993 3 108547585 GAAC G 1198 PASS TRAT1 CCDS33813.1 r.? - - Del intronic D 108547585 108547593 3 130 1129.71 - - 2 1 1 TRAT1|CCDS33813.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAT1|CCDS33813.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 12 9 14 9 40 30 40 30 14 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725820224 3 117475072 A AC 300 PASS - - - - - Ins - I 117475072 117475074 1 12 266.112 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 2 5 2 30 22 30 22 5 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725821436 3 121077797 A AT 840 PASS STXBP5L CCDS43137.1 r.? - - Ins intronic I 121077797 121077806 1 60 745.112 - - 8 1 1 STXBP5L|CCDS43137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STXBP5L|CCDS43137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 9 5 11 6 44 39 44 39 11 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725822927 3 125056794 AT A 300 PASS ZNF148 CCDS3031.1 r.? - - Del intronic D 125056794 125056803 1 12 268.52 - - 8 1 1 ZNF148|CCDS3031.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF148|CCDS3031.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 3 4 3 24 35 24 35 4 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725824962 3 130900997 AG A 300 PASS NEK11 CCDS3069.1 r.? - - Del intronic D 130900997 130900999 1 6 254.672 - - 1 1 - NEK11|CCDS3069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEK11|CCDS3069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 0 6 0 35 26 35 26 6 0 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725826126 3 134655413 GC G 480 PASS EPHB1 CCDS46921.1 r.? - - Del intronic D 134655413 134655422 1 21 426.381 - - 8 1 1 EPHB1|CCDS46921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHB1|CCDS46921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 2 6 3 27 12 27 12 6 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725829377 3 144420874 G GAT 600 PASS - - - - - Ins - I 144420874 144420888 2 35 526.203 - - 6 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 4 6 4 7 22 38 22 38 4 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725830904 3 148940822 A AT 1018 PASS CP CCDS3141.1 r.? - - Ins upstream I 148940822 148940831 1 84 954.991 - - 8 1 1 CP|CCDS3141.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 CP|CCDS3141.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 20 21 20 21 0 0 ./. 13 5 15 9 31 27 31 28 15 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725831010 3 149245436 A AT 267 PASS WWTR1 CCDS3144.1 r.? - - Ins intronic I 149245436 149245443 1 12 318.732 - - 6 1 1 WWTR1|CCDS3144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WWTR1|CCDS3144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 21 16 21 0 0 ./. 1 5 2 8 13 27 13 27 2 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725831321 3 150102385 T TA 300 PASS - - - - - Ins - I 150102385 150102394 1 10 264.907 - - 8 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 4 1 7 3 28 32 28 32 7 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725832745 3 153450795 T TA 420 PASS - - - - - Ins - I 153450795 153450804 1 20 372.556 - - 8 1 1 - - ./. 0 0 0 0 15 29 15 29 0 0 ./. 3 4 4 5 21 28 22 29 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725834901 3 160240207 CT C 509 PASS KPNA4 CCDS3191.1 r.? - - Del intronic D 160240207 160240212 1 30 482.011 - - 4 1 1 KPNA4|CCDS3191.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KPNA4|CCDS3191.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 5 4 6 9 32 42 32 42 6 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725836546 3 164656965 TGTAA T 780 PASS - - - - - Del - D 164656965 164656975 4 44 699.717 - - 2 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 10 3 10 4 43 24 43 24 10 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725836997 3 165871701 T TA 540 PASS - - - - - Ins - I 165871701 165871706 1 28 479.001 - - 4 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 6 4 7 20 42 20 42 4 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725838501 3 170341348 C CA 360 PASS CLDN11 ENST00000486975 r.? - - Ins intronic I 170341348 170341358 1 15 319.334 - - 9 1 1 CLDN11|ENST00000486975|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLDN11|ENST00000486975|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 11 0 0 ./. 4 2 6 3 33 24 33 24 6 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725840409 3 175486689 AAAG A 358 PASS NAALADL2 CCDS46960.1 r.? - - Del intronic D 175486689 175486697 3 18 357.505 - - 2 1 1 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 23 24 23 0 0 ./. 2 5 3 5 26 18 26 18 3 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725842080 3 179649436 A AT 300 PASS PEX5L CCDS3236.1 r.? - - Ins intronic I 179649436 179649445 1 12 266.112 - - 8 1 1 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 4 6 36 32 36 32 4 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725842287 3 180616070 A AT 360 PASS FXR1 ENST00000465551 r.? - - Ins intronic I 180616070 180616079 1 15 319.334 - - 8 1 1 FXR1|ENST00000465551|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FXR1|ENST00000465551|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 17 17 18 0 0 ./. 2 4 3 4 23 27 23 27 3 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725842357 3 180741564 C CT 420 PASS - - - - - Ins - I 180741564 180741571 1 20 372.556 - - 6 1 1 - - ./. 0 0 0 0 16 25 16 26 0 0 ./. 4 3 5 4 26 28 28 28 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725843926 3 184832490 G GA 600 PASS C3orf70 CCDS33900.1 r.? - - Ins intronic I 184832490 184832497 1 20 532.223 - - 6 1 1 C3orf70|CCDS33900.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C3orf70|CCDS33900.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 24 22 24 0 0 ./. 9 1 10 3 31 34 31 34 10 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725844926 3 187095331 G GT 420 PASS - - - - - Ins - I 187095331 187095340 1 20 368.944 - - 8 1 1 - - ./. 0 0 0 0 11 31 11 31 0 0 ./. 3 4 3 6 28 29 31 30 3 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725847116 3 192621267 GA G 300 PASS C3orf59 CCDS3302.2 r.? - - Del intronic D 192621267 192621274 1 12 267.316 - - 6 1 1 C3orf59|CCDS3302.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C3orf59|CCDS3302.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 3 2 7 3 29 22 29 22 7 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725847169 3 192810210 AC A 300 PASS - - - - - Del - D 192810210 192810217 1 10 269.122 - - 6 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 4 1 4 2 20 14 20 14 4 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725849186 3 197124144 G GA 300 PASS - - - - - Ins - I 197124144 197124153 1 10 266.112 - - 8 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 1 5 5 18 34 18 34 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725855988 4 17897904 CCT C 300 PASS LCORL CCDS3425.1 r.? - - Del intronic D 17897904 17897921 2 12 267.941 - - 8 1 1 LCORL|CCDS3425.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LCORL|CCDS3425.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 3 2 3 2 44 28 44 28 3 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725856779 4 20858142 G GT 600 PASS KCNIP4 CCDS43217.1 r.? - - Ins intronic I 20858142 20858151 1 32 532.269 - - 8 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 21 15 21 0 0 ./. 3 7 5 9 17 25 17 25 5 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725856923 4 21291634 C CA 420 PASS KCNIP4 CCDS43217.1 r.? - - Ins intronic I 21291634 21291644 1 18 370.18 - - 9 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 14 28 14 0 0 ./. 5 2 10 2 33 19 33 19 10 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725860596 4 32102638 A AT 540 PASS - - - - - Ins - I 32102638 32102644 1 30 479.042 - - 5 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 4 9 8 12 20 12 20 9 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725861521 4 35180281 T TA 300 PASS - - - - - Ins - I 35180281 35180290 1 10 266.134 - - 8 1 1 - - ./. 0 0 0 0 17 25 17 25 0 0 ./. 1 4 2 4 20 20 20 20 2 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725864920 4 43704813 A AT 389 PASS - - - - - Ins - I 43704813 43704823 1 20 370.782 - - 9 1 1 - - ./. 0 0 0 0 35 17 35 17 0 0 ./. 3 4 6 7 23 29 23 30 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725865432 4 45553293 TA T 540 PASS - - - - - Del - D 45553293 45553297 1 30 484.461 - - 3 1 1 - - ./. 0 0 0 0 24 11 24 11 0 0 ./. 4 5 5 9 25 21 25 21 5 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725868163 4 55056606 C CA 540 PASS FIP1L1 ENST00000507166 r.? - - Ins intronic I 55056606 55056616 1 30 479.042 - - 9 1 1 FIP1L1|ENST00000507166|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FIP1L1|ENST00000507166|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 5 4 6 6 24 27 24 27 6 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725868210 4 55211634 T TA 569 PASS - - - - - Ins - I 55211634 55211643 1 36 531.065 - - 8 1 1 - - ./. 0 0 0 0 22 26 23 26 0 0 ./. 5 5 6 8 22 29 23 29 7 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725869473 4 58618437 GAA G 360 PASS - - - - - Del - D 58618437 58618440 2 16 322.372 - - 2 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 3 3 6 6 15 28 15 28 6 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725870101 4 60559583 ATATT A 540 PASS - - - - - Del - D 60559583 60559590 4 30 484.461 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 5 9 6 21 28 21 28 9 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725870474 4 61766699 AAAAT A 1167 PASS - - - - - Del - D 61766699 61766705 4 130 1129.2 - - 1 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 9 12 9 14 16 26 16 26 9 14 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725877181 4 82051808 TG T 420 PASS PRKG2 CCDS3589.1 r.? - - Del intronic D 82051808 82051812 1 20 375.599 - - 3 1 1 PRKG2|CCDS3589.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKG2|CCDS3589.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 3 5 7 14 21 14 21 5 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725877221 4 82221937 AT A 509 PASS - - - - - Del - D 82221937 82221943 1 28 480.848 - - 5 1 1 - - ./. 0 0 0 0 9 22 9 22 0 0 ./. 6 3 9 6 17 21 17 21 9 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725879523 4 88910984 TC T 360 PASS - - - - - Del - D 88910984 88910990 1 7 322.974 - - 5 1 1 - - ./. 0 0 0 0 17 23 17 23 0 0 ./. 0 6 0 7 15 20 15 20 0 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725881878 4 96785461 A AT 780 PASS - - - - - Ins - I 96785461 96785470 1 56 691.95 - - 8 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 7 6 9 7 17 16 17 16 9 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725882178 4 98672284 TTAACAACACTTCTTCC T 290 PASS C4orf37 CCDS3645.1 r.? - - Del intronic D 98672284 98672302 16 36 538.29 - - 1 1 1 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf37|CCDS3645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 24 13 24 0 0 ./. 5 5 5 5 20 26 20 26 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725882725 4 100014872 T TA 396 PASS ADH5 CCDS47111.1 r.? - - Ins upstream I 100014872 100014880 1 14 368.976 - - 7 1 1 ADH5|CCDS47111.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ADH5|CCDS47111.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 25 24 25 24 0 0 ./. 1 6 2 8 18 25 18 25 2 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725882830 4 100199090 A AT 300 PASS ADH1A CCDS3648.1 r.? - - Ins intronic I 100199090 100199099 1 10 266.134 - - 8 1 1 ADH1A|CCDS3648.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADH1A|CCDS3648.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 1 4 2 7 26 23 26 23 2 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725884722 4 106439999 T TA 300 PASS - - - - - Ins - I 106439999 106440007 1 12 266.134 - - 7 1 1 - - ./. 0 0 0 0 22 5 22 5 0 0 ./. 3 2 5 4 29 10 29 10 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725885077 4 107732497 CTT C 720 PASS - - - - - Del - D 107732497 107732500 2 45 644.743 - - 2 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 8 4 9 4 22 16 22 16 9 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725886394 4 111925489 AT A 540 PASS - - - - - Del - D 111925489 111925499 1 28 483.859 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 6 5 8 14 25 14 25 5 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725886494 4 112228511 TA T 720 PASS - - - - - Del - D 112228511 112228520 1 48 645.947 - - 8 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 5 7 8 11 16 19 16 19 8 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725887115 4 114149975 A AT 329 PASS ANK2 CCDS3702.1 r.? - - Ins intronic I 114149975 114149985 1 12 319.361 - - 9 1 1 ANK2|CCDS3702.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANK2|CCDS3702.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 21 17 21 0 0 ./. 5 1 7 2 26 15 26 15 7 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725887715 4 116250489 GT G 360 PASS - - - - - Del - D 116250489 116250494 1 15 322.974 - - 4 1 1 - - ./. 0 0 0 0 10 22 10 22 0 0 ./. 2 4 2 5 16 23 16 23 2 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725888268 4 117963704 C CT 300 PASS - - - - - Ins - I 117963704 117963711 1 12 266.134 - - 6 1 1 - - ./. 0 0 0 0 18 25 19 25 0 0 ./. 2 3 3 4 21 22 21 22 3 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725888627 4 119293333 A AT 300 PASS - - - - - Ins - I 119293333 119293343 1 12 266.134 - - 9 1 1 - - ./. 0 0 0 0 20 19 21 19 0 0 ./. 2 3 4 8 25 32 25 32 4 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725890856 4 126060089 CT C 720 PASS - - - - - Del - D 126060089 126060091 1 45 645.947 - - 1 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 4 8 4 10 18 16 18 16 4 10 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725891429 4 127734871 CA C 840 PASS - - - - - Del - D 127734871 127734875 1 60 753.003 - - 3 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 5 9 6 11 20 39 20 39 6 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725892443 4 130950204 CTG C 300 PASS - - - - - Del - D 130950204 130950209 2 10 269.145 - - 2 1 1 - - ./. 0 0 0 0 21 24 21 24 0 0 ./. 1 4 2 4 33 15 33 15 2 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725893646 4 134920684 A AT 420 PASS - - - - - Ins - I 134920684 134920688 1 18 372.588 - - 3 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 5 2 6 3 22 19 22 19 6 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725894973 4 139455955 G GA 420 PASS - - - - - Ins - I 139455955 139455965 1 14 372.588 - - 9 1 1 - - ./. 0 0 0 0 19 24 20 24 0 0 ./. 1 6 2 7 31 32 31 32 2 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725897281 4 147161993 CATT C 329 PASS - - - - - Del - D 147161993 147162000 3 15 322.974 - - 2 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 4 3 5 18 24 18 24 3 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725900765 4 157826975 G GC 360 PASS PDGFC ENST00000502773 r.? - - Ins intronic I 157826975 157826977 1 16 319.361 - - 1 1 1 PDGFC|ENST00000502773|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDGFC|ENST00000502773|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 19 21 19 0 0 ./. 3 3 4 4 19 21 19 21 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725902632 4 163073909 GAACA G 358 PASS FSTL5 CCDS3802.1 r.? - - Del intronic D 163073909 163073921 4 18 376.803 - - 2 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 2 4 3 19 23 20 23 5 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725902896 4 163726256 TAAA T 509 PASS - - - - - Del - D 163726256 163726261 3 28 484.461 - - 4 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 3 7 5 20 25 20 25 7 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725903065 4 164248924 TCA T 389 PASS NPY1R CCDS34089.1 r.? - - Del intronic D 164248924 164248929 2 20 376.803 - - 2 1 1 NPY1R|CCDS34089.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NPY1R|CCDS34089.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 26 12 26 0 0 ./. 4 3 4 4 25 26 25 26 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725903613 4 165635226 G GA 1080 PASS - - - - - Ins - I 165635226 165635235 1 84 957.482 - - 8 1 1 - - ./. 0 0 0 0 16 23 17 23 0 0 ./. 5 13 7 18 24 35 24 35 7 18 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725904511 4 168110206 AAAG A 689 PASS SPOCK3 CCDS34095.1 r.? - - Del intronic D 168110206 168110213 3 48 642.335 - - 2 1 1 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 25 13 25 0 0 ./. 7 5 7 5 22 26 22 26 7 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725908695 4 180299631 A AT 418 PASS - - - - - Ins - I 180299631 180299638 1 21 425.815 - - 6 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 6 5 9 18 34 18 34 5 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725913864 4 190845878 T TA 258 PASS - - - - - Ins - I 190845878 190845885 1 18 372.588 - - 6 1 1 - - ./. 0 0 0 0 43 25 43 26 0 0 ./. 5 2 7 4 116 91 116 93 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725913865 4 190845906 TC T 407 PASS - - - - - Del - D 190845906 190845908 1 40 590.914 - - 1 1 1 - - ./. 0 0 0 0 19 24 19 24 0 0 ./. 7 4 9 4 73 75 73 76 9 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725913984 4 190873445 TTG T 281 PASS FRG1 CCDS34121.1 r.481+4_481+5delug c.259+4_259+5deltg p.? Del ess splice D 190873445 190873451 2 10 483.859 - - 2 1 1 FRG1|CCDS34121.1|r.481+4_481+5delug|c.259+4_259+5deltg|p.?|protein_coding:CDS:extended_cis_splice_site:deletion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000159:SO:CGPX03:SO:0001576 FRG1|CCDS34121.1|r.481+4_481+5delug|c.259+4_259+5deltg|p.?|protein_coding:CDS:extended_cis_splice_site:deletion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000159:SO:CGPX03:SO:0001576 ./. 0 0 0 0 21 14 21 14 0 0 ./. 9 0 10 0 59 34 60 34 11 0 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725916239 5 5202943 C CA 629 PASS ADAMTS16 CCDS43299.1 r.? - - Ins intronic I 5202943 5202951 1 40 581.534 - - 7 1 1 ADAMTS16|CCDS43299.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAMTS16|CCDS43299.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 20 17 21 0 0 ./. 7 4 8 4 27 28 28 28 8 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725916937 5 7213519 G GA 329 PASS - - - - - Ins - I 7213519 7213527 1 16 319.499 - - 7 1 1 - - ./. 0 0 0 0 4 27 4 27 0 0 ./. 3 3 5 8 20 42 20 42 5 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725921084 5 18265381 GT G 300 PASS - - - - - Del - D 18265381 18265385 1 10 269.26 - - 3 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 1 4 3 4 32 22 32 22 3 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725922237 5 21225095 T TA 300 PASS - - - - - Ins - I 21225095 21225105 1 6 265.045 - - 9 1 1 - - ./. 0 0 0 0 25 13 25 13 0 0 ./. 5 0 5 0 49 31 50 31 5 0 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725922954 5 22842919 C CAA 1829 PASS CDH12 CCDS3890.1 r.? - - Ins intronic I 22842919 22842923 2 272 1631.48 - - 3 1 1 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 16 15 19 16 32 36 32 36 19 16 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725923755 5 25020990 C CA 780 PASS - - - - - Ins - I 25020990 25020995 1 56 692.249 - - 4 1 1 - - ./. 0 0 0 0 30 25 31 25 0 0 ./. 7 6 10 8 25 27 26 27 10 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725929010 5 38234151 CT C 360 PASS - - - - - Del - D 38234151 38234154 1 16 323.112 - - 2 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 3 3 5 4 16 25 16 25 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725930360 5 42292803 G GT 420 PASS - - - - - Ins - I 42292803 42292811 1 8 372.147 - - 7 1 1 - - ./. 0 0 0 0 17 24 17 26 0 0 ./. 7 0 7 1 28 18 28 18 7 1 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725934288 5 56356288 A AT 420 PASS - - - - - Ins - I 56356288 56356296 1 20 372.749 - - 7 1 1 - - ./. 0 0 0 0 14 13 15 13 0 0 ./. 3 4 4 6 21 24 21 24 4 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725934497 5 56829319 A AT 300 PASS - - - - - Ins - I 56829319 56829328 1 12 265.045 - - 8 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 3 2 6 4 25 31 25 31 6 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725936387 5 62699658 C CA 360 PASS - - - - - Ins - I 62699658 62699664 1 15 317.091 - - 5 1 1 - - ./. 0 0 0 0 13 21 14 21 0 0 ./. 2 4 5 9 39 34 39 34 5 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725940978 5 76510755 TTAAATTATCTGTCTGTTGACCAGGCGAA T 261 PASS PDE8B CCDS4037.1 r.? - - Del intronic D 76510755 76510785 28 28 484.668 - - 1 1 1 PDE8B|CCDS4037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE8B|CCDS4037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 6 3 6 2 18 19 18 20 6 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725943184 5 82089479 G GA 329 PASS - - - - - Ins - I 82089479 82089489 1 12 319.499 - - 9 1 1 - - ./. 0 0 0 0 28 20 28 20 0 0 ./. 5 1 5 2 23 36 23 36 5 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725944197 5 84652007 G GA 1500 PASS - - - - - Ins - I 84652007 84652017 1 182 1322.22 - - 9 1 1 - - ./. 0 0 0 0 23 16 24 16 0 0 ./. 13 12 17 14 45 29 46 31 17 14 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725946052 5 89897554 A AT 389 PASS GPR98 CCDS47246.1 r.? - - Ins intronic I 89897554 89897562 1 20 372.749 - - 7 1 1 GPR98|CCDS47246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPR98|CCDS47246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 29 16 29 0 0 ./. 3 4 6 4 27 27 27 27 6 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725948975 5 99012141 CA C 720 PASS - - - - - Del - D 99012141 99012143 1 49 646.223 - - 1 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 6 6 12 9 32 26 32 26 12 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725949205 5 99583684 T TA 300 PASS - - - - - Ins - I 99583684 99583694 1 10 266.249 - - 9 1 1 - - ./. 0 0 0 0 9 26 9 26 0 0 ./. 4 1 4 1 35 17 35 17 4 1 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725951066 5 104873316 A AT 600 PASS - - - - - Ins - I 104873316 104873324 1 32 530.693 - - 7 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 7 3 11 5 32 24 33 25 11 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725951315 5 105473352 T TTA 360 PASS - - - - - Ins - I 105473352 105473364 2 15 315.887 - - 5 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 2 5 4 42 24 42 24 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725952959 5 110568274 T TA 480 PASS CAMK4 CCDS4103.1 r.? - - Ins intronic I 110568274 110568283 1 25 425.999 - - 8 1 1 CAMK4|CCDS4103.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CAMK4|CCDS4103.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 6 16 6 0 0 ./. 4 4 8 5 41 27 41 27 8 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725953270 5 111550304 C CA 517 PASS EPB41L4A CCDS43350.1 r.? - - Ins intronic I 111550304 111550313 1 30 479.249 - - 8 1 1 EPB41L4A|CCDS43350.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPB41L4A|CCDS43350.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 4 9 8 23 32 23 32 9 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725953844 5 113062043 CT C 898 PASS - - - - - Del - D 113062043 113062046 1 72 860.427 - - 2 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 11 5 15 9 31 24 31 24 15 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725954538 5 115343883 C CA 300 PASS LVRN CCDS4124.1 r.? - - Ins intronic I 115343883 115343892 1 10 266.249 - - 8 1 1 LVRN|CCDS4124.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LVRN|CCDS4124.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 1 4 5 7 25 41 26 41 5 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725955493 5 117935236 GA G 749 PASS ENSG00000232769 ENST00000445069 r.? - - Del intronic D 117935236 117935241 1 54 698.269 - - 4 1 1 ENSG00000232769|ENST00000445069|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000232769|ENST00000445069|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 23 20 23 0 0 ./. 5 8 5 8 30 24 30 24 5 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725956155 5 119888838 T TA 360 PASS PRR16 CCDS4127.1 r.? - - Ins intronic I 119888838 119888848 1 16 318.897 - - 9 1 1 PRR16|CCDS4127.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRR16|CCDS4127.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 3 4 3 26 33 26 34 4 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725956245 5 120124538 A AT 420 PASS - - - - - Ins - I 120124538 120124547 1 20 372.749 - - 8 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 4 3 5 4 31 36 31 36 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725958134 5 125725639 C CA 480 PASS GRAMD3 ENST00000513040 r.? - - Ins intronic I 125725639 125725649 1 25 424.795 - - 9 1 1 GRAMD3|ENST00000513040|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRAMD3|ENST00000513040|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 23 14 23 0 0 ./. 4 4 5 5 36 26 36 27 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725962552 5 138320079 ACT A 300 PASS SIL1 CCDS4209.1 r.? - - Del intronic D 138320079 138320084 2 10 269.26 - - 2 1 1 SIL1|CCDS4209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SIL1|CCDS4209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 4 3 4 11 28 11 28 3 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725963057 5 139774777 C CA 449 PASS - - - - - Ins - I 139774777 139774786 1 24 425.999 - - 8 1 1 - - ./. 0 0 0 0 17 18 17 19 0 0 ./. 5 3 10 3 36 24 36 24 10 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725965692 5 147407010 C CT 300 PASS - - - - - Ins - I 147407010 147407017 1 12 265.045 - - 6 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 2 3 4 4 29 42 29 42 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725966018 5 148415578 T TAC 360 PASS SH3TC2 ENST00000504690 r.? - - Ins intronic I 148415578 148415593 2 12 315.887 - - 7 1 1 SH3TC2|ENST00000504690|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SH3TC2|ENST00000504690|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 20 24 20 0 0 ./. 1 5 2 7 20 27 20 27 2 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725968789 5 156595726 C CA 480 PASS FAM71B CCDS4335.1 r.? - - Ins upstream I 156595726 156595734 1 25 425.999 - - 7 1 1 FAM71B|CCDS4335.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 FAM71B|CCDS4335.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 24 13 24 13 0 0 ./. 4 4 9 6 25 24 25 24 9 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725969417 5 158319799 C CA 360 PASS EBF1 CCDS4343.1 r.? - - Ins intronic I 158319799 158319807 1 16 319.499 - - 7 1 1 EBF1|CCDS4343.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EBF1|CCDS4343.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 3 5 4 34 33 34 36 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725969641 5 159033432 TAGAA T 714 PASS - - - - - Del - D 159033432 159033441 4 66 806.575 - - 2 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 10 6 11 24 27 24 27 6 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725970106 5 160368936 A AT 436 PASS - - - - - Ins - I 160368936 160368943 1 24 425.397 - - 6 1 1 - - ./. 0 0 0 0 26 18 26 18 0 0 ./. 3 5 4 8 32 46 32 47 4 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725971605 5 164436002 A AT 360 PASS - - - - - Ins - I 164436002 164436012 1 16 319.499 - - 9 1 1 - - ./. 0 0 0 0 25 13 25 13 0 0 ./. 3 3 4 4 30 28 30 28 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725971688 5 164566205 C CT 600 PASS - - - - - Ins - I 164566205 164566213 1 27 532.499 - - 7 1 1 - - ./. 0 0 0 0 18 21 18 22 0 0 ./. 8 2 11 4 52 19 52 19 11 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725972349 5 166367177 T TA 600 PASS - - - - - Ins - I 166367177 166367186 1 27 526.478 - - 8 1 1 - - ./. 0 0 0 0 11 28 11 28 0 0 ./. 2 8 4 9 26 45 26 45 4 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725977203 5 178498016 A AT 540 PASS ZNF354C CCDS4443.1 r.? - - Ins intronic I 178498016 178498026 1 24 479.249 - - 9 1 1 ZNF354C|CCDS4443.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF354C|CCDS4443.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 2 10 4 19 19 19 19 10 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725978365 6 443074 AG A 360 PASS ENSG00000237960 ENST00000449432 r.? - - Del intronic D 443074 443077 1 15 323.509 - - 2 1 1 ENSG00000237960|ENST00000449432|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237960|ENST00000449432|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 2 4 2 8 15 30 15 30 2 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725980297 6 5266745 T TA 600 PASS FARS2 CCDS4494.1 r.? - - Ins intronic I 5266745 5266754 1 32 531.355 - - 8 1 1 FARS2|CCDS4494.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FARS2|CCDS4494.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 12 21 13 0 0 ./. 7 3 11 4 34 26 34 26 11 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725983969 6 13941180 C CT 480 PASS RNF182 ENST00000488300 r.? - - Ins intronic I 13941180 13941190 1 25 425.325 - - 9 1 1 RNF182|ENST00000488300|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RNF182|ENST00000488300|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 18 18 18 0 0 ./. 4 4 7 6 28 27 28 27 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725986855 6 20700600 A AT 360 PASS CDKAL1 CCDS4546.1 r.? - - Ins intronic I 20700600 20700601 1 15 319.295 - - 0 1 1 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 20 23 20 0 0 ./. 4 2 4 4 32 34 32 34 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725990262 6 28298589 G GA 509 PASS ZNF323 CCDS4649.1 r.? - - Ins intronic I 28298589 28298596 1 24 479.243 - - 6 1 1 ZNF323|CCDS4649.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF323|CCDS4649.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 7 6 8 54 28 54 28 6 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725990959 6 29805454 C CA 420 PASS - - - - - Ins - I 29805454 29805463 1 18 373.213 - - 8 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 5 2 6 3 24 25 24 25 6 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725995623 6 37936513 TG T 300 PASS ZFAND3 CCDS4836.1 r.? - - Del intronic D 37936513 37936518 1 12 269.591 - - 4 1 1 ZFAND3|CCDS4836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFAND3|CCDS4836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 7 20 7 0 0 ./. 3 2 5 3 27 15 27 15 5 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725995733 6 38218869 A AAT 300 PASS BTBD9 CCDS47418.1 r.? - - Ins intronic I 38218869 38218871 2 12 263.57 - - 0 1 1 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BTBD9|CCDS47418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 15 8 15 0 0 ./. 2 3 2 5 17 21 18 21 2 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2725999035 6 47545145 TCTTA T 449 PASS CD2AP CCDS34472.1 r.? - - Del intronic D 47545145 47545153 4 25 427.131 - - 1 1 1 CD2AP|CCDS34472.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD2AP|CCDS34472.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 4 4 4 5 23 24 24 24 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726000193 6 51203888 AT A 480 PASS - - - - - Del - D 51203888 51203892 1 21 431.345 - - 3 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 6 2 10 7 28 20 28 20 10 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726000502 6 52078821 G GA 360 PASS - - - - - Ins - I 52078821 52078829 1 12 319.897 - - 7 1 1 - - ./. 0 0 0 0 22 18 22 19 0 0 ./. 1 5 2 5 25 20 25 21 2 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726005440 6 65864651 T TA 420 PASS EYS CCDS47445.1 r.? - - Ins intronic I 65864651 65864659 1 18 373.213 - - 7 1 1 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 22 19 22 0 0 ./. 5 2 5 2 18 10 18 10 5 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726006685 6 70070629 A AT 329 PASS BAI3 CCDS4968.1 r.? - - Ins intronic I 70070629 70070638 1 15 319.897 - - 8 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 22 18 22 0 0 ./. 2 4 4 7 16 16 16 16 4 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726008741 6 78743022 TA T 660 PASS - - - - - Del - D 78743022 78743029 1 36 593.1 - - 6 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 8 3 9 6 22 17 22 17 9 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726011086 6 88437957 C CT 300 PASS - - - - - Ins - I 88437957 88437967 1 12 265.979 - - 9 1 - - - ./. 0 0 0 0 19 12 20 12 0 0 ./. 3 2 3 3 14 13 15 13 3 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726012835 6 96218928 G GA 360 PASS - - - - - Ins - I 96218928 96218936 1 12 319.897 - - 7 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 5 1 8 2 20 14 20 14 8 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726013259 6 97931937 ACTTC A 567 PASS - - - - - Del - D 97931937 97931946 4 40 593.1 - - 2 1 1 - - ./. 0 0 0 0 17 32 17 32 0 0 ./. 4 7 5 7 13 19 13 19 5 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726015122 6 105426040 C CT 629 PASS LIN28B CCDS34504.1 r.? - - Ins intronic I 105426040 105426048 1 40 586.477 - - 7 1 1 LIN28B|CCDS34504.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LIN28B|CCDS34504.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 15 17 0 0 ./. 4 7 6 11 20 15 20 15 6 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726016002 6 108627099 TTTTG T 420 PASS LACE1 CCDS5067.1 r.? - - Del intronic D 108627099 108627119 4 18 376.223 - - 4 1 1 LACE1|CCDS5067.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LACE1|CCDS5067.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 2 5 3 7 13 17 13 17 3 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726016097 6 109120610 T TA 540 PASS - - - - - Ins - I 109120610 109120619 1 28 479.845 - - 8 1 1 - - ./. 0 0 0 0 23 15 23 15 0 0 ./. 6 3 7 8 9 9 9 9 7 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726017382 6 114367835 ACT A 569 PASS - - - - - Del - D 114367835 114367840 2 36 538.58 - - 2 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 5 5 8 7 20 16 20 16 8 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726017874 6 116613835 C CA 720 PASS DSE CCDS5107.1 r.? - - Ins intronic I 116613835 116613845 1 45 639.793 - - 9 1 1 DSE|CCDS5107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 DSE|CCDS5107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 8 4 9 4 22 14 22 14 9 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726019206 6 122138084 G GT 600 PASS - - - - - Ins - I 122138084 122138093 1 32 533.161 - - 8 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 7 3 11 5 26 11 26 11 11 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726020569 6 128720341 T TA 480 PASS PTPRK CCDS47473.1 r.? - - Ins intronic I 128720341 128720350 1 21 425.927 - - 8 1 1 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 6 4 7 12 15 12 15 4 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726025716 6 152273112 TC T 480 PASS ESR1 CCDS5234.1 r.? - - Del intronic D 152273112 152273116 1 21 430.743 - - 3 1 1 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 23 21 23 0 0 ./. 2 6 3 8 11 23 11 23 3 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726027942 6 160893263 GT G 509 PASS - - - - - Del - D 160893263 160893273 1 30 482.253 - - 9 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 4 5 4 5 12 13 12 13 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726030659 7 1292979 C CA 300 PASS - - - - - Ins - I 1292979 1292987 1 12 264.837 - - 7 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 3 3 4 28 20 28 20 3 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726035415 7 11215934 T TA 720 PASS - - - - - Ins - I 11215934 11215944 1 40 634.285 - - 9 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 9 3 11 6 45 34 45 34 11 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726035640 7 11793416 CAG C 300 PASS THSD7A CCDS47543.1 r.? - - Del intronic D 11793416 11793434 2 10 269.052 - - 8 1 - THSD7A|CCDS47543.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THSD7A|CCDS47543.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 1 4 4 5 57 32 57 32 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726036594 7 14284792 T TAC 300 PASS DGKB CCDS47547.1 r.? - - Ins intronic I 14284792 14284811 2 12 263.031 - - 9 1 - DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 24 15 25 0 0 ./. 2 3 2 3 37 31 37 31 2 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726037874 7 17548026 C CA 269 PASS - - - - - Ins - I 17548026 17548034 1 12 265.44 - - 7 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 2 3 6 3 35 26 35 27 6 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726039884 7 22673485 T TG 600 PASS ENSG00000105889 ENST00000439708 r.? - - Ins upstream I 22673485 22673493 1 27 530.879 - - 7 1 1 ENSG00000105889|ENST00000439708|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ENSG00000105889|ENST00000439708|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 8 3 8 30 27 30 27 3 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726041138 7 25335559 A AT 269 PASS - - - - - Ins - I 25335559 25335568 1 10 265.44 - - 8 1 1 - - ./. 0 0 0 0 15 18 15 19 0 0 ./. 4 1 5 5 44 47 46 47 5 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726042912 7 29502379 C CT 537 PASS CHN2 CCDS5420.1 r.? - - Ins intronic I 29502379 29502389 1 30 477.671 - - 9 1 1 CHN2|CCDS5420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHN2|CCDS5420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 23 16 23 0 0 ./. 5 4 7 6 36 30 36 30 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726045281 7 35870938 C CT 420 PASS SEPT7 ENST00000435235 r.? - - Ins intronic I 35870938 35870947 1 20 371.856 - - 8 1 1 SEPT7|ENST00000435235|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SEPT7|ENST00000435235|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 15 25 15 0 0 ./. 4 3 5 6 37 50 37 50 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726045901 7 37375178 TAA T 360 PASS ELMO1 CCDS5449.1 r.? - - Del intronic D 37375178 37375182 2 12 322.862 - - 3 1 1 ELMO1|CCDS5449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELMO1|CCDS5449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 26 18 26 0 0 ./. 5 1 8 2 33 25 33 25 8 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726046448 7 38777799 G GA 660 PASS VPS41 CCDS5457.1 r.? - - Ins intronic I 38777799 38777807 1 22 585.291 - - 7 1 1 VPS41|CCDS5457.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS41|CCDS5457.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 18 25 19 0 0 ./. 10 1 12 2 55 23 55 23 12 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726047406 7 40781515 G GA 569 PASS C7orf10 ENST00000309930 r.? - - Ins intronic I 40781515 40781523 1 35 532.083 - - 7 1 1 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 21 14 21 0 0 ./. 6 4 9 5 34 57 34 57 9 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726048566 7 43852245 AAG A 300 PASS - - - - - Del - D 43852245 43852262 2 10 268.45 - - 8 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 1 4 2 4 37 30 37 30 2 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726050338 7 48293850 G GT 1440 PASS ABCA13 CCDS47584.1 r.? - - Ins intronic I 48293850 48293858 1 160 1275.19 - - 7 1 1 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 26 27 26 0 0 ./. 9 15 16 24 33 51 33 51 16 24 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726054315 7 57520261 A AT 528 PASS ZNF716 ENST00000420713 r.? - - Ins intronic I 57520261 57520270 1 35 532.083 - - 8 1 1 ZNF716|ENST00000420713|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF716|ENST00000420713|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 6 4 8 5 31 24 31 26 8 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726054388 7 57600886 G GT 505 PASS - - - - - Ins - I 57600886 57600894 1 28 478.875 - - 7 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 6 3 7 4 38 34 38 36 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726057218 7 64846506 CATA C 389 PASS ZNF92 CCDS34646.1 r.? - - Del intronic D 64846506 64846513 3 20 373.06 - - 2 1 1 ZNF92|CCDS34646.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF92|CCDS34646.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 4 4 6 29 40 29 40 4 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726065020 7 79672056 CTATT C 420 PASS - - - - - Del - D 79672056 79672061 4 8 376.673 - - 1 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 0 7 1 8 33 44 33 44 1 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726065027 7 79697292 G GA 360 PASS - - - - - Ins - I 79697292 79697301 1 16 318.648 - - 8 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 3 3 6 7 34 31 34 31 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726067885 7 86955312 T TA 600 PASS - - - - - Ins - I 86955312 86955319 1 35 532.083 - - 6 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 6 4 6 4 31 35 31 35 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726068705 7 89371976 C CA 540 PASS - - - - - Ins - I 89371976 89371983 1 30 478.273 - - 6 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 5 4 6 7 30 60 30 60 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726070238 7 94030957 C CA 540 PASS COL1A2 CCDS34682.1 r.? - - Ins intronic I 94030957 94030965 1 28 478.875 - - 7 1 1 COL1A2|CCDS34682.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL1A2|CCDS34682.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 6 3 10 6 42 23 43 23 10 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726071861 7 98100346 A AT 478 PASS - - - - - Ins - I 98100346 98100356 1 10 475.865 - - 9 1 1 - - ./. 0 0 0 0 6 17 6 17 0 0 ./. 0 9 2 12 12 35 12 35 2 12 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726071887 7 98166994 AT A 420 PASS - - - - - Del - D 98166994 98166998 1 14 370.05 - - 3 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 6 4 8 35 37 35 37 4 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726074413 7 103181704 C CT 720 PASS RELN CCDS47680.1 r.? - - Ins intronic I 103181704 103181708 1 40 635.49 - - 3 1 1 RELN|CCDS47680.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RELN|CCDS47680.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 9 3 11 8 41 24 41 24 11 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726081702 7 123025453 G GA 360 PASS - - - - - Ins - I 123025453 123025462 1 15 319.25 - - 8 1 1 - - ./. 0 0 0 0 19 25 19 25 0 0 ./. 2 4 6 5 46 35 46 37 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726082099 7 124014292 A AT 720 PASS - - - - - Ins - I 124014292 124014302 1 45 638.5 - - 9 1 1 - - ./. 0 0 0 0 24 24 24 24 0 0 ./. 4 8 9 9 37 42 38 42 9 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726082308 7 124520215 T TA 300 PASS POT1 CCDS5793.1 r.? - - Ins intronic I 124520215 124520225 1 12 266.042 - - 9 1 1 POT1|CCDS5793.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 POT1|CCDS5793.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 20 21 20 0 0 ./. 2 3 3 4 52 53 52 54 3 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726083010 7 126195946 TTGAC T 418 PASS GRM8 CCDS5794.1 r.? - - Del intronic D 126195946 126195953 4 24 427.473 - - 1 1 1 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 5 3 7 32 47 32 47 3 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726096063 7 155632004 G GT 420 PASS - - - - - Ins - I 155632004 155632006 1 20 372.458 - - 1 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 4 3 6 4 35 38 35 38 6 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726096269 7 156207114 G GA 420 PASS - - - - - Ins - I 156207114 156207123 1 20 371.254 - - 8 1 1 - - ./. 0 0 0 0 21 22 22 22 0 0 ./. 4 3 4 7 24 28 24 28 4 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726096965 7 157570685 AAT A 300 PASS PTPRN2 CCDS5949.1 r.? - - Del intronic D 157570685 157570689 2 6 264.235 - - 1 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 19 24 19 0 0 ./. 5 0 7 0 38 34 38 34 7 0 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726097165 7 158251368 GCA G 689 PASS PTPRN2 CCDS5949.1 r.? - - Del intronic D 158251368 158251373 2 40 643.918 - - 2 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 9 4 13 21 35 21 35 4 13 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726097239 7 158426162 T TGAGG 389 PASS NCAPG2 CCDS43686.1 r.? - - Ins intronic I 158426162 158426168 4 20 359.815 - - 1 1 1 NCAPG2|CCDS43686.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NCAPG2|CCDS43686.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 4 4 3 39 45 39 46 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726100229 8 9891018 G GA 360 PASS - - - - - Ins - I 9891018 9891026 1 12 319.988 - - 7 1 1 - - ./. 0 0 0 0 30 14 30 14 0 0 ./. 5 1 5 2 15 7 15 7 5 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726100458 8 10820061 TG T 300 PASS XKR6 CCDS5978.2 r.? - - Del intronic D 10820061 10820064 1 12 269.667 - - 2 1 1 XKR6|CCDS5978.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XKR6|CCDS5978.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 20 24 20 0 0 ./. 2 3 8 4 20 11 20 11 8 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726102076 8 15828224 AC A 480 PASS - - - - - Del - D 15828224 15828227 1 24 430.865 - - 2 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 5 4 9 6 11 6 11 4 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726103618 8 21368025 C CA 420 PASS - - - - - Ins - I 21368025 21368032 1 20 373.319 - - 6 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 4 3 5 4 14 6 14 6 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726103782 8 22065253 G GAA 300 PASS BMP1 CCDS6026.1 r.? - - Ins intronic I 22065253 22065255 2 12 263.646 - - 1 1 1 BMP1|CCDS6026.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BMP1|CCDS6026.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 12 0 0 ./. 2 3 2 5 11 10 11 10 2 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726103860 8 22361660 G GT 540 PASS PPP3CC CCDS34859.1 r.? - - Ins intronic I 22361660 22361670 1 30 474.563 - - 9 1 1 PPP3CC|CCDS34859.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPP3CC|CCDS34859.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 19 26 19 0 0 ./. 5 4 7 7 16 17 16 17 7 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726105432 8 27471327 A AT 360 PASS CLU CCDS47832.1 r.? - - Ins upstream I 27471327 27471332 1 16 319.988 - - 4 1 1 CLU|CCDS47832.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CLU|CCDS6061.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 16 18 0 0 ./. 3 3 3 3 65 47 66 47 3 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726105700 8 27977439 A AT 420 PASS ELP3 CCDS6065.1 r.? - - Ins intronic I 27977439 27977442 1 8 372.717 - - 2 1 1 ELP3|CCDS6065.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ELP3|CCDS6065.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 7 0 7 0 47 16 47 16 7 0 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726108991 8 37444169 G GA 269 PASS - - - - - Ins - I 37444169 37444178 1 12 266.656 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 7 5 103 98 104 99 7 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726109064 8 37556430 AAAT A 449 PASS ZNF703 CCDS6094.1 r.? - - Del downstream D 37556430 37556441 3 21 431.467 - - 3 1 1 ZNF703|CCDS6094.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ZNF703|CCDS6094.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 13 20 13 20 0 0 ./. 2 6 3 11 77 85 77 85 3 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726111114 8 42000035 T TA 420 PASS - - - - - Ins - I 42000035 42000044 1 14 367.9 - - 8 1 1 - - ./. 0 0 0 0 15 15 15 16 0 0 ./. 1 6 2 8 20 26 20 27 2 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726111245 8 42444136 A AT 898 PASS - - - - - Ins - I 42444136 42444145 1 81 853.301 - - 8 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 8 8 15 13 18 22 18 22 15 13 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726112337 8 50200432 A AT 600 PASS - - - - - Ins - I 50200432 50200440 1 35 533.313 - - 7 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 4 6 4 6 22 19 22 20 4 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726115575 8 61212615 TAC T 389 PASS - - - - - Del - D 61212615 61212619 2 14 377.533 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 6 4 9 12 25 12 25 4 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726115841 8 62103231 TA T 387 PASS - - - - - Del - D 62103231 62103238 1 40 592.665 - - 6 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 4 7 4 8 21 22 22 22 5 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726116508 8 64416027 CTGTTCCACATCCTTGCCAGCATTTGGTGT C 261 PASS - - - - - Del - D 64416027 64416060 29 30 482.39 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 4 2 4 25 23 28 23 5 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726118144 8 69065661 CT C 480 PASS PREX2 CCDS6201.1 r.? - - Del intronic D 69065661 69065668 1 25 431.467 - - 6 1 1 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 20 23 20 0 0 ./. 4 4 6 5 37 28 37 28 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726120249 8 74585932 G GA 898 PASS STAU2 CCDS6214.1 r.? - - Ins intronic I 74585932 74585939 1 80 852.699 - - 6 1 1 STAU2|CCDS6214.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STAU2|CCDS6214.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 7 9 11 15 51 77 51 78 11 16 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726120393 8 74770614 AG A 300 PASS UBE2W CCDS47875.1 r.? - - Del intronic D 74770614 74770616 1 6 264.85 - - 1 1 1 UBE2W|CCDS47875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBE2W|CCDS47875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 5 0 18 0 62 46 62 46 18 0 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726120806 8 75749834 C CT 720 PASS PI15 CCDS6218.1 r.? - - Ins intronic I 75749834 75749844 1 48 638.169 - - 9 1 1 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 15 23 15 0 0 ./. 5 7 8 7 23 23 23 23 8 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726121427 8 77408195 A AT 300 PASS - - - - - Ins - I 77408195 77408204 1 12 266.656 - - 8 1 1 - - ./. 0 0 0 0 23 14 24 14 0 0 ./. 3 2 4 4 29 38 30 38 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726121476 8 77622223 T TA 1260 PASS ZFHX4 CCDS47878.1 r.? - - Ins intronic I 77622223 77622227 1 112 1119.36 - - 3 1 1 ZFHX4|CCDS47878.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFHX4|CCDS47878.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 14 22 14 0 0 ./. 15 6 19 9 37 23 37 23 19 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726121911 8 79040309 T TA 900 PASS - - - - - Ins - I 79040309 79040318 1 72 799.367 - - 8 1 1 - - ./. 0 0 0 0 31 20 31 20 0 0 ./. 7 8 7 11 26 35 26 36 7 11 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726122373 8 80890236 T TA 269 PASS MRPS28 CCDS6226.1 r.? - - Ins intronic I 80890236 80890244 1 6 265.452 - - 7 1 1 MRPS28|CCDS6226.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MRPS28|CCDS6226.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 0 6 0 28 12 28 12 6 0 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726123387 8 83623425 G GA 660 PASS - - - - - Ins - I 83623425 83623435 1 42 580.624 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 6 6 7 34 32 34 32 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726124147 8 85700675 C CA 337 PASS RALYL ENST00000399361 r.? - - Ins intronic I 85700675 85700682 1 15 319.386 - - 6 1 1 RALYL|ENST00000399361|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RALYL|ENST00000399361|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 27 20 28 0 0 ./. 2 4 2 4 12 33 12 33 2 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726127757 8 96486717 C CTT 292 PASS - - - - - Ins - I 96486717 96486723 2 24 474.563 - - 5 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 7 2 0 1 58 47 60 48 7 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726127918 8 96838145 C CT 540 PASS - - - - - Ins - I 96838145 96838155 1 24 479.982 - - 9 1 1 - - ./. 0 0 0 0 22 20 22 21 0 0 ./. 7 2 7 4 40 29 41 29 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726132440 8 106897150 TTTCATTCTTTTACTGCTC T 348 PASS - - - - - Del - D 106897150 106897171 18 48 647.2 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 5 7 6 6 30 43 30 44 6 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726133940 8 110784115 GTTCACTCTGATGGTAA G 302 PASS - - - - - Del - D 110784115 110784134 16 63 748.444 - - 1 1 1 - - ./. 0 0 0 0 22 18 22 18 0 0 ./. 8 6 8 7 25 27 26 27 9 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726134139 8 111541088 G GT 689 PASS - - - - - Ins - I 111541088 111541096 1 49 638.771 - - 7 1 1 - - ./. 0 0 0 0 17 17 18 17 0 0 ./. 6 6 7 6 53 38 53 38 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726134215 8 111697158 T TA 517 PASS - - - - - Ins - I 111697158 111697168 1 30 479.982 - - 9 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 4 5 5 6 41 35 42 35 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726134216 8 111698301 T TA 600 PASS - - - - - Ins - I 111698301 111698309 1 27 533.313 - - 7 1 1 - - ./. 0 0 0 0 25 19 25 19 0 0 ./. 2 8 4 9 32 48 33 48 4 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726134895 8 113516208 TG T 360 PASS CSMD3 CCDS6315.1 r.5141-3delc c.4896-3delc p.? Del splice region D 113516208 113516210 1 15 323.6 - - 1 1 - CSMD3|CCDS6315.1|r.5141-3delc|c.4896-3delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 CSMD3|CCDS6315.1|r.5141-3delc|c.4896-3delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 2 5 2 49 49 49 49 5 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726135139 8 114355979 G GA 900 PASS CSMD3 CCDS6315.1 r.? - - Ins intronic I 114355979 114355987 1 70 795.755 - - 7 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 20 19 21 0 0 ./. 6 9 15 15 41 31 41 32 15 15 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726136685 8 118264493 TTAA T 1225 PASS - - - - - Del - D 118264493 118264501 3 136 1240.47 - - 2 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 16 7 20 8 46 21 46 21 20 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726136743 8 118406250 G GA 600 PASS - - - - - Ins - I 118406250 118406260 1 20 532.109 - - 9 1 1 - - ./. 0 0 0 0 21 5 21 5 0 0 ./. 9 1 14 1 53 11 54 12 14 1 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726137240 8 119689385 AAAG A 540 PASS - - - - - Del - D 119689385 119689392 3 30 485.4 - - 2 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 4 5 5 8 31 36 31 36 5 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726139872 8 125685015 CAT C 300 PASS MTSS1 CCDS6353.1 r.? - - Del intronic D 125685015 125685018 2 10 269.667 - - 1 1 1 MTSS1|CCDS6353.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTSS1|CCDS6353.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 1 5 2 30 25 30 25 5 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726141963 8 131229558 G GT 300 PASS ASAP1 CCDS6362.1 r.? - - Ins intronic I 131229558 131229567 1 12 261.84 - - 8 1 1 ASAP1|CCDS6362.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASAP1|CCDS6362.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 23 17 23 0 0 ./. 3 2 6 5 19 20 19 20 6 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726142230 8 132114758 G GT 360 PASS - - - - - Ins - I 132114758 132114762 1 7 314.569 - - 3 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 6 0 9 4 19 32 20 32 9 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726143930 8 136654747 A AT 418 PASS KHDRBS3 CCDS6374.1 r.? - - Ins intronic I 136654747 136654754 1 16 426.65 - - 6 1 1 KHDRBS3|CCDS6374.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KHDRBS3|CCDS6374.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 14 16 0 0 ./. 1 7 2 7 128 85 129 85 2 7 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726144451 8 138180338 AC A 300 PASS - - - - - Del - D 138180338 138180340 1 12 268.463 - - 1 1 1 - - ./. 0 0 0 0 24 20 24 20 0 0 ./. 3 2 3 2 30 18 30 18 3 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726145446 8 141455072 TCG T 360 PASS TRAPPC9 CCDS34946.1 r.? - - Del intronic D 141455072 141455076 2 16 323.6 - - 1 1 1 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 3 6 3 7 9 7 9 6 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726149692 9 9313932 TTGTC T 300 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 9313932 9313940 4 12 270.642 - - 1 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 2 3 4 4 23 15 23 15 4 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726152527 9 19839473 C CT 417 PASS - - - - - Ins - I 19839473 19839483 1 18 372.275 - - 9 1 1 - - ./. 0 0 0 0 20 10 21 10 0 0 ./. 5 2 6 2 23 19 23 19 6 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726153535 9 24991764 A AT 300 PASS - - - - - Ins - I 24991764 24991773 1 12 267.631 - - 8 1 - - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 3 5 6 15 18 15 18 5 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726153764 9 25848356 A AT 660 PASS - - - - - Ins - I 25848356 25848365 1 30 585.778 - - 8 1 1 - - ./. 0 0 0 0 18 25 18 25 0 0 ./. 2 9 11 16 21 19 21 19 11 16 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726155699 9 33441168 A AT 300 PASS AQP3 CCDS6542.1 r.1832_1833insa c.? p.? Ins 3'UTR variant I 33441168 33441170 1 12 267.631 - - 1 1 1 AQP3|CCDS6542.1|r.1832_1833insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 AQP3|CCDS6542.1|r.1832_1833insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 11 22 11 23 0 0 ./. 3 2 5 3 11 6 11 6 5 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726161666 9 73899135 TA T 420 PASS TRPM3 ENST00000357533 r.? - - Del intronic D 73899135 73899137 1 18 378.898 - - 1 1 1 TRPM3|ENST00000357533|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPM3|ENST00000357533|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 5 2 9 4 12 6 12 6 9 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726163601 9 81261207 T TTA 420 PASS - - - - - Ins - I 81261207 81261223 2 18 370.469 - - 7 1 1 - - ./. 0 0 0 0 21 7 21 8 0 0 ./. 5 2 7 2 9 4 9 4 7 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726166327 9 94160642 C CT 540 PASS - - - - - Ins - I 94160642 94160649 1 30 473.909 - - 6 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 5 4 9 8 16 18 16 18 9 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726168205 9 102054673 C CA 329 PASS - - - - - Ins - I 102054673 102054679 1 15 321.157 - - 5 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 2 6 3 12 9 12 9 6 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726170185 9 111224015 C CA 420 PASS - - - - - Ins - I 111224015 111224022 1 18 374.684 - - 6 1 1 - - ./. 0 0 0 0 21 23 21 23 0 0 ./. 5 2 8 4 19 24 20 25 8 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726171291 9 115003395 A AT 420 PASS ROD1 CCDS6784.1 r.? - - Ins intronic I 115003395 115003403 1 18 374.082 - - 7 1 1 ROD1|CCDS6784.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROD1|CCDS6784.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 5 2 7 2 18 13 18 13 7 2 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726172069 9 117513213 A AT 269 PASS - - - - - Ins - I 117513213 117513223 1 12 267.631 - - 9 1 1 - - ./. 0 0 0 0 12 24 12 24 0 0 ./. 3 2 8 5 18 13 18 13 8 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726173240 9 122371447 C CT 269 PASS - - - - - Ins - I 122371447 122371457 1 12 267.029 - - 9 1 1 - - ./. 0 0 0 0 15 18 15 19 0 0 ./. 2 3 3 5 11 16 11 16 3 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726174770 9 128705835 G GT 778 PASS PBX3 CCDS6865.1 r.? - - Ins intronic I 128705835 128705841 1 63 746.959 - - 5 1 1 PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 6 8 6 9 9 13 10 13 6 9 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726174919 9 129329310 A AT 420 PASS - - - - - Ins - I 129329310 129329318 1 20 374.082 - - 7 1 1 - - ./. 0 0 0 0 13 15 14 15 0 0 ./. 3 4 3 6 5 12 5 12 3 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726178527 X 5326590 G GT 540 PASS - - - - - Ins - I 5326590 5326597 1 18 482.483 - - 6 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 8 1 11 4 25 17 25 17 11 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726179045 X 7727435 C CA 540 PASS - - - - - Ins - I 7727435 7727442 1 28 481.279 - - 6 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 6 3 7 4 17 12 17 13 7 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726182133 X 24173420 G GT 360 PASS ZFX CCDS14211.1 r.? - - Ins intronic I 24173420 24173427 1 16 321.656 - - 6 1 1 ZFX|CCDS14211.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZFX|CCDS14211.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 17 23 17 0 0 ./. 3 3 6 6 27 20 28 20 6 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726184712 X 39142064 A AG 869 PASS - - - - - Ins - I 39142064 39142068 1 66 799.924 - - 3 1 1 - - ./. 0 0 0 0 13 17 14 17 0 0 ./. 5 10 11 14 13 16 13 16 11 14 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726186396 X 47605257 C CT 329 PASS - - - - - Ins - I 47605257 47605267 1 15 309.012 - - 9 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 2 4 3 8 18 16 18 16 3 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726186688 X 48880749 C CT 569 PASS - - - - - Ins - I 48880749 48880758 1 35 534.888 - - 8 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 6 4 8 3 21 14 21 15 8 4 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726186818 X 50242097 T TA 660 PASS - - - - - Ins - I 50242097 50242105 1 42 586.692 - - 7 1 1 - - ./. 0 0 0 0 17 18 17 19 0 0 ./. 6 5 7 6 17 12 17 12 7 6 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726188414 X 64048882 C CA 420 PASS - - - - - Ins - I 64048882 64048892 1 18 359.611 - - 9 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 2 5 3 5 10 24 11 25 3 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726189547 X 72716303 A AT 300 PASS - - - - - Ins - I 72716303 72716311 1 12 268.046 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 13 0 0 ./. 2 3 2 3 6 7 6 7 2 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726193534 X 100762434 A AT 600 PASS - - - - - Ins - I 100762434 100762441 1 35 536.093 - - 6 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 6 6 8 11 11 11 11 6 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726194482 X 110272199 A AT 360 PASS PAK3 CCDS14554.1 r.? - - Ins intronic I 110272199 110272203 1 16 321.656 - - 3 1 1 PAK3|CCDS14554.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PAK3|CCDS14554.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 18 16 0 0 ./. 3 3 4 3 9 11 9 11 4 3 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726196718 X 125643950 A AT 420 PASS - - - - - Ins - I 125643950 125643960 1 8 374.663 - - 9 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 0 7 2 8 13 15 13 15 2 8 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726197771 X 132325058 G GA 420 PASS - - - - - Ins - I 132325058 132325062 1 20 375.265 - - 3 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 3 4 5 8 9 8 10 4 5 1 1 1 1 1 1 1 1 2662711 PD18184a PD18184b 2726197826 X 132630993 T TA 300 PASS - - - - - Ins - I 132630993 132631003 1 12 268.046 - - 9 1 1 - - ./. 0 0 0 0 19 24 19 24 0 0 ./. 2 3 3 12 14 32 14 32 3 12 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718653073 1 17029783 CAA C 360 PASS - - - - - Del - D 17029783 17029786 2 12 322.767 - - 2 1 1 - - ./. 0 0 0 0 22 11 22 11 0 0 ./. 5 1 6 2 48 31 48 31 6 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718658494 1 33475575 CAG C 303 PASS AK2 CCDS373.1 r.1594_1595delCU c.? p.? Del 3'UTR variant D 33475575 33475578 2 10 483.549 - - 1 1 1 AK2|CCDS373.1|r.1594_1595delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 AK2|CCDS373.1|r.1594_1595delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 7 11 7 11 0 0 ./. 9 0 10 0 37 34 37 34 10 0 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718669418 1 72540983 TA T 300 PASS NEGR1 CCDS661.1 r.? - - Del intronic D 72540983 72540987 1 10 268.973 - - 3 1 1 NEGR1|CCDS661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEGR1|CCDS661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 1 7 1 36 23 36 23 7 1 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718677227 1 98711770 A AT 360 PASS - - - - - Ins - I 98711770 98711778 1 16 318.553 - - 7 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 3 3 3 21 21 21 21 3 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718682541 1 117238459 C CT 540 PASS C1orf137 ENST00000369482 r.? - - Ins intronic I 117238459 117238469 1 28 467.293 - - 9 1 1 C1orf137|ENST00000369482|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C1orf137|ENST00000369482|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 15 9 0 0 ./. 6 3 7 3 30 29 31 29 7 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718688771 1 153035559 C CA 300 PASS SPRR2B CCDS30865.1 r.? - - Ins intronic I 153035559 153035569 1 12 265.962 - - 9 1 1 SPRR2B|CCDS30865.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 SPRR2B|CCDS30865.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 2 3 2 6 25 31 25 31 2 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718691502 1 161497181 G GGAT 251 PASS HSPA7 CCDS1231.1 r.? - - Ins downstream I 161497181 161497186 3 8 363.918 - - 1 1 1 HSPA7|CCDS1231.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 HSPA7|CCDS1231.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 15 11 15 0 0 ./. 7 0 8 0 33 39 34 39 8 0 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718694020 1 169732632 TC T 420 PASS - - - - - Del - D 169732632 169732635 1 20 376.562 - - 2 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 3 5 3 34 39 34 39 5 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718695649 1 175219126 TG T 300 PASS - - - - - Del - D 175219126 175219128 1 6 262.952 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 0 5 0 28 26 28 26 5 0 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718698768 1 185819511 A AT 360 PASS HMCN1 CCDS30956.1 r.? - - Ins intronic I 185819511 185819521 1 15 319.155 - - 9 1 1 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 21 11 21 0 0 ./. 4 2 7 3 30 36 31 36 7 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718708569 1 216654124 TAC T 300 PASS - - - - - Del - D 216654124 216654144 2 12 267.166 - - 9 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 2 3 2 27 28 27 28 3 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718714697 1 235725947 GAAAAAAAAAAAGAA G 290 PASS GNG4 CCDS1607.1 r.? - - Del intronic D 235725947 235725986 14 35 524.7 - - 2 1 - GNG4|CCDS1607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GNG4|CCDS1607.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 6 4 5 3 15 23 16 24 6 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718717403 1 242274736 GA G 565 PASS PLD5 CCDS1621.1 r.? - - Del intronic D 242274736 242274739 1 45 640.718 - - 2 1 1 PLD5|CCDS1621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLD5|CCDS1621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 8 6 8 38 31 38 31 6 8 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718718202 1 244709901 TGAGAAAACAATACATGATCA T 290 PASS C1orf101 CCDS44340.1 r.? - - Del intronic D 244709901 244709924 20 35 535.537 - - 1 1 1 C1orf101|CCDS44340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf101|CCDS44340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 6 4 6 4 33 31 33 31 6 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718727430 10 20653100 AT A 600 PASS - - - - - Del - D 20653100 20653107 1 36 539.821 - - 6 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 5 6 7 26 29 26 29 6 7 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718738888 10 57341603 AT A 300 PASS PCDH15 ENST00000373957 r.? - - Del intronic D 57341603 57341613 1 10 264.492 - - 9 1 1 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 1 4 1 30 25 30 25 4 1 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718746484 10 82442062 TC T 269 PASS - - - - - Del - D 82442062 82442064 1 6 246.43 - - 1 1 - - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 0 5 0 9 15 32 15 32 0 10 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718747141 10 84977680 A AT 300 PASS - - - - - Ins - I 84977680 84977690 1 12 266.298 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 4 2 30 25 30 26 4 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718751584 10 100812261 G GA 300 PASS HPSE2 CCDS7477.1 r.? - - Ins intronic I 100812261 100812271 1 10 266.9 - - 9 1 1 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HPSE2|CCDS7477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 1 4 2 29 26 31 26 4 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718764557 11 6968834 CA C 780 PASS ZNF215 CCDS7775.1 r.? - - Del intronic D 6968834 6968838 1 50 702.403 - - 3 1 1 ZNF215|CCDS7775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF215|CCDS7775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 9 4 10 4 45 22 45 22 10 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718773782 11 36773542 TAG T 300 PASS - - - - - Del - D 36773542 36773561 2 12 269.182 - - 9 1 - - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 4 2 19 28 19 28 4 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718775991 11 43648096 AT A 600 PASS - - - - - Del - D 43648096 43648105 1 32 540.773 - - 8 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 7 3 8 3 32 21 32 21 8 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718792890 11 103743693 TG T 300 PASS - - - - - Del - D 103743693 103743697 1 12 270.387 - - 3 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 3 3 4 26 25 26 25 3 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718801666 11 133332183 AT A 480 PASS ENSG00000183715 CCDS31722.1 r.? - - Del intronic D 133332183 133332190 1 24 430.812 - - 6 1 1 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 5 3 5 23 24 23 24 3 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718814312 12 39129159 CTGT C 449 PASS CPNE8 CCDS8733.1 r.? - - Del intronic D 39129159 39129163 3 24 432.848 - - 1 1 1 CPNE8|CCDS8733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPNE8|CCDS8733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 5 3 6 24 26 24 26 3 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718822837 12 69546253 G GA 540 PASS - - - - - Ins - I 69546253 69546260 1 28 481.535 - - 6 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 6 3 7 3 36 33 36 33 7 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718864210 13 95542765 TG T 465 PASS AL139381.2 ENST00000505287 r.? - - Del intronic D 95542765 95542767 1 9 424.953 - - 1 1 1 AL139381.2|ENST00000505287|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL139381.2|ENST00000505287|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 8 0 13 0 25 14 25 14 13 0 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718889633 14 82204988 T TG 300 PASS - - - - - Ins - I 82204988 82204996 1 12 268.289 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 2 3 33 22 34 22 2 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718892232 14 90965045 C CA 300 PASS - - - - - Ins - I 90965045 90965053 1 12 268.289 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 4 5 20 26 20 26 4 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718894691 14 98949690 CT C 360 PASS - - - - - Del - D 98949690 98949695 1 12 325.559 - - 4 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 1 5 1 5 26 16 26 16 1 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718897625 15 20120687 CTTCG CCA 316 PASS - - - - - Complex - DI 20120688 20120691 4 90 0 - - 0 1 1 - - ./. 0 0 0 0 80 86 80 86 0 0 ./. 9 8 0 0 224 175 224 176 9 8 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718909283 15 56007769 AG A 300 PASS PRTG CCDS42040.1 r.? - - Del intronic D 56007769 56007772 1 12 271.388 - - 2 1 1 PRTG|CCDS42040.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRTG|CCDS42040.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 2 4 3 30 18 30 18 4 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718921592 15 95811624 G GGT 536 PASS - - - - - Ins - I 95811624 95811625 2 30 562.133 - - 0 1 1 - - ./. 0 0 0 0 13 7 14 7 0 0 ./. 2 9 0 0 25 30 25 30 2 9 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718927569 16 11291041 G GT 449 PASS - - - - - Ins - I 11291041 11291043 1 25 427.54 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 12 0 0 ./. 4 4 5 5 24 29 24 29 5 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718928376 16 13807848 TTTTG T 449 PASS - - - - - Del - D 13807848 13807873 4 24 434.163 - - 6 1 - - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 5 3 6 22 36 22 36 3 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718933421 16 31698414 AG A 456 PASS - - - - - Del - D 31698414 31698416 1 16 432.959 - - 1 1 1 - - ./. 0 0 0 0 12 24 12 24 0 0 ./. 7 1 8 2 24 27 24 27 8 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718934914 16 33773487 G GT 379 PASS ENSG00000198555 ENST00000359871 r.? - - Ins upstream I 33773487 33773496 1 36 534.877 - - 8 1 1 ENSG00000198555|ENST00000359871|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ENSG00000198555|ENST00000359871|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 20 28 20 28 0 0 ./. 5 5 5 5 31 32 31 32 5 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718942002 16 68863559 C CT 480 PASS CDH1 CCDS10869.1 r.2489_2490insu c.2298_2299insT p.D768fs*1 Ins frameshift I 68863559 68863563 1 24 428.142 - - 3 1 1 CDH1|CCDS10869.1|r.2489_2490insu|c.2298_2299insT|p.D768fs*1|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 CDH1|CCDS10869.1|r.2489_2490insu|c.2298_2299insT|p.D768fs*1|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 7 14 7 14 0 0 ./. 5 3 7 4 27 26 27 26 7 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718945993 16 81179240 CT C 360 PASS PKD1L2 ENST00000299598 r.? - - Del intronic D 81179240 81179249 1 16 325.02 - - 8 1 1 PKD1L2|ENST00000299598|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 PKD1L2|ENST00000299598|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 3 5 18 26 18 26 3 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718973753 18 1777355 TC T 480 PASS - - - - - Del - D 1777355 1777357 1 21 434.205 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 6 2 6 2 31 34 31 34 6 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718990411 18 60134387 G GT 300 PASS - - - - - Ins - I 60134387 60134396 1 10 265.357 - - 8 1 1 - - ./. 0 0 0 0 15 11 16 12 0 0 ./. 4 1 5 1 31 17 32 19 5 1 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2718991575 18 63864070 G GA 277 PASS - - - - - Ins - I 63864070 63864077 1 12 265.357 - - 6 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 3 2 4 3 23 33 23 33 4 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719004923 19 22055987 TAA T 300 PASS - - - - - Del - D 22055987 22055992 2 10 269.731 - - 4 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 1 4 1 31 14 31 14 4 1 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719005081 19 22467710 A AT 269 PASS - - - - - Ins - I 22467710 22467716 1 12 266.119 - - 5 1 1 - - ./. 0 0 0 0 15 13 15 14 0 0 ./. 2 3 3 3 35 23 36 23 3 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719006077 19 24467510 CT C 328 PASS - - - - - Del - D 24467510 24467514 1 12 325.845 - - 3 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 1 5 1 6 33 32 33 32 1 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719011163 19 43357398 CTT C 417 PASS PSG1 ENST00000449000 r.? - - Del intronic D 43357398 43357401 2 20 378.948 - - 2 1 1 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 4 3 4 3 46 28 46 28 4 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719019623 2 7637733 G GT 300 PASS - - - - - Ins - I 7637733 7637743 1 12 264.4 - - 9 1 - - - ./. 0 0 0 0 16 13 17 13 0 0 ./. 2 3 2 3 26 29 26 29 2 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719023571 2 21083812 GA G 300 PASS - - - - - Del - D 21083812 21083814 1 10 259.583 - - 1 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 1 4 2 5 23 23 23 23 2 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719028425 2 36633759 GA G 269 PASS CRIM1 CCDS1783.1 r.? - - Del intronic D 36633759 36633761 1 6 255.369 - - 1 1 1 CRIM1|CCDS1783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRIM1|CCDS1783.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 0 5 0 8 21 33 21 33 0 8 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719041456 2 83840736 ACAC ACC 300 PASS - - - - - Complex - DI 83840737 83840739 3 10 0 - - 0 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 1 0 0 21 30 21 30 4 1 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719049165 2 114722181 A AT 300 PASS ACTR3 CCDS33277.1 r.? - - Ins downstream I 114722181 114722191 1 12 248.144 - - 9 1 1 ACTR3|CCDS33277.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ACTR3|CCDS33277.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 2 3 29 37 30 38 2 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719050199 2 118651553 AT A 300 PASS - - - - - Del - D 118651553 118651562 1 10 269.216 - - 8 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 1 4 2 30 26 30 26 4 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719058700 2 147326164 TA T 360 PASS - - - - - Del - D 147326164 147326166 1 15 321.253 - - 1 1 1 - - ./. 0 0 0 0 15 27 15 27 0 0 ./. 2 4 2 4 27 33 27 33 2 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719064584 2 169199952 T TTA 269 PASS - - - - - Ins - I 169199952 169199953 2 10 261.992 - - 0 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 4 0 0 15 27 15 27 1 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719089104 20 7815940 G GA 300 PASS - - - - - Ins - I 7815940 7815949 1 12 268.428 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 4 4 33 29 33 29 4 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719090721 20 13206137 CT C 480 PASS ISM1 CCDS46579.1 r.? - - Del intronic D 13206137 13206145 1 24 435.265 - - 7 1 1 ISM1|CCDS46579.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ISM1|CCDS46579.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 3 7 6 41 17 41 17 7 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719091822 20 16912342 CA C 360 PASS - - - - - Del - D 16912342 16912347 1 16 326.449 - - 4 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 5 3 34 22 34 22 5 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719144226 3 43004455 GA G 300 PASS - - - - - Del - D 43004455 43004461 1 12 269.686 - - 5 1 1 - - ./. 0 0 0 0 21 9 21 9 0 0 ./. 3 2 6 2 38 29 38 29 6 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719147893 3 57141664 C CA 420 PASS IL17RD CCDS2880.2 r.? - - Ins intronic I 57141664 57141668 1 14 369.733 - - 3 1 1 IL17RD|CCDS2880.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL17RD|CCDS2880.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 12 14 0 0 ./. 6 1 8 1 30 26 30 26 8 1 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719160353 3 100335491 CA C 300 PASS GPR128 CCDS2938.1 r.? - - Del intronic D 100335491 100335496 1 12 269.686 - - 4 1 1 GPR128|CCDS2938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR128|CCDS2938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 2 4 2 20 21 20 21 4 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719162469 3 107224608 G GT 300 PASS - - - - - Ins - I 107224608 107224618 1 12 266.675 - - 9 1 1 - - ./. 0 0 0 0 10 8 11 8 0 0 ./. 3 2 3 3 31 29 31 29 3 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719173904 3 148471619 AT A 360 PASS - - - - - Del - D 148471619 148471621 1 15 323.623 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 4 3 6 29 19 29 19 3 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719179563 3 168508568 G GT 360 PASS - - - - - Ins - I 168508568 168508578 1 12 320.01 - - 9 1 1 - - ./. 0 0 0 0 25 24 26 24 0 0 ./. 1 5 1 7 34 36 35 36 1 7 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719201542 4 41217513 TAC T 269 PASS APBB2 CCDS3837.1 r.? - - Del upstream D 41217513 41217531 2 6 265.99 - - 8 1 1 APBB2|CCDS3837.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 APBB2|CCDS3837.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 10 10 10 0 0 ./. 0 5 0 5 23 22 23 22 0 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719206659 4 59668692 TG T 360 PASS - - - - - Del - D 59668692 59668694 1 15 323.523 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 4 2 35 21 35 21 4 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719225642 4 127354972 TA T 300 PASS - - - - - Del - D 127354972 127354977 1 12 269.603 - - 4 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 3 2 6 4 23 26 23 26 6 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719226954 4 132140526 T TA 300 PASS - - - - - Ins - I 132140526 132140536 1 6 265.99 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 0 5 0 5 33 40 33 40 0 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719232464 4 152721953 CTT C 269 PASS - - - - - Del - D 152721953 152721957 2 12 268.399 - - 3 1 - - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 3 5 15 21 15 21 3 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719242087 4 182888142 ATC A 269 PASS - - - - - Del - D 182888142 182888159 2 12 255.153 - - 8 1 1 - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 3 2 3 2 33 25 33 25 3 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719253541 5 23462584 A AT 420 PASS - - - - - Ins - I 23462584 23462594 1 20 352.064 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 3 5 4 31 31 31 31 5 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719257830 5 36370599 G GT 480 PASS - - - - - Ins - I 36370599 36370608 1 24 409.067 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 3 6 6 31 36 31 36 6 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719265482 5 67180314 A AG 360 PASS - - - - - Ins - I 67180314 67180320 1 15 320.347 - - 5 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 2 5 2 28 27 28 27 5 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719270683 5 85368110 A AT 360 PASS - - - - - Ins - I 85368110 85368113 1 15 320.347 - - 2 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 4 2 6 4 26 25 26 25 6 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719281491 5 126337747 TA T 420 PASS MARCH3 CCDS4141.1 r.? - - Del intronic D 126337747 126337750 1 18 377.952 - - 2 1 1 MARCH3|CCDS4141.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MARCH3|CCDS4141.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 5 3 5 22 25 22 25 3 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719285193 5 141105319 CCT C 300 PASS - - - - - Del - D 141105319 141105336 2 6 268.16 - - 8 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 5 0 5 0 47 14 47 14 5 0 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719285692 5 142634375 C CGG 389 PASS - - - - - Ins - I 142634375 142634379 2 8 353.87 - - 3 1 1 - - ./. 0 0 0 0 7 9 7 10 0 0 ./. 7 0 11 0 24 20 24 20 11 0 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719290226 5 159546014 CG C 449 PASS PWWP2A CCDS47332.1 r.438delC c.381delC p.E128fs*12 Del frameshift D 159546014 159546018 1 21 418.098 - - 3 1 1 PWWP2A|CCDS47332.1|r.438delC|c.381delC|p.E128fs*12|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PWWP2A|CCDS47332.1|r.438delC|c.381delC|p.E128fs*12|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 17 11 17 0 0 ./. 2 6 4 6 22 24 22 24 4 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719309177 6 35569497 A AGG 329 PASS FKBP5 CCDS4808.1 r.? - - Ins intronic I 35569497 35569501 2 12 314.955 - - 3 1 1 FKBP5|CCDS4808.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FKBP5|CCDS4808.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 7 19 7 0 0 ./. 1 5 2 5 19 27 20 27 2 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719316746 6 61898620 GTT G 261 PASS - - - - - Del - D 61898620 61898626 2 10 485.978 - - 5 1 1 - - ./. 0 0 0 0 68 63 68 63 0 0 ./. 0 9 0 10 109 134 109 134 0 10 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719340082 6 148125809 GA G 300 PASS - - - - - Del - D 148125809 148125817 1 12 269.988 - - 7 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 2 3 4 4 21 22 21 22 4 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719349424 7 7184354 TC T 420 PASS - - - - - Del - D 7184354 7184356 1 18 378.031 - - 1 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 2 5 2 6 26 31 26 31 2 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719350006 7 9356241 GA G 300 PASS - - - - - Del - D 9356241 9356247 1 6 270.022 - - 5 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 0 8 0 28 32 28 32 8 0 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719373926 7 87154186 G GA 360 PASS ABCB1 CCDS5608.1 r.? - - Ins intronic I 87154186 87154192 1 16 318.006 - - 5 1 1 ABCB1|CCDS5608.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCB1|CCDS5608.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 8 22 8 0 0 ./. 3 3 4 5 29 25 29 25 4 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719381036 7 112227071 A AT 300 PASS - - - - - Ins - I 112227071 112227077 1 12 265.808 - - 5 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 2 6 2 25 24 25 25 6 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719390045 7 143217703 G GT 540 PASS - - - - - Ins - I 143217703 143217704 1 18 473.397 - - 0 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 8 1 8 1 26 18 26 18 8 1 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719398921 8 11543823 TAA T 420 PASS - - - - - Del - D 11543823 11543827 2 20 378.522 - - 3 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 4 6 4 29 27 29 27 6 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719403157 8 24076041 G GA 300 PASS - - - - - Ins - I 24076041 24076043 1 12 267.363 - - 1 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 2 3 2 22 20 22 20 3 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719415499 8 70975199 TG T 480 PASS PRDM14 CCDS6206.1 r.? - - Del intronic D 70975199 70975201 1 24 432.597 - - 1 1 1 PRDM14|CCDS6206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRDM14|CCDS6206.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 5 3 6 26 34 26 34 3 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719415785 8 71871166 GTA G 300 PASS - - - - - Del - D 71871166 71871182 2 10 270.373 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 4 1 5 20 16 20 16 1 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719442288 9 20007166 TAAA T 389 PASS - - - - - Del - D 20007166 20007173 3 18 378.982 - - 6 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 2 5 3 5 22 37 22 37 3 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719444620 9 29379399 GT G 360 PASS - - - - - Del - D 29379399 29379401 1 7 322.433 - - 1 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 6 0 6 0 24 17 24 17 6 0 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719453084 9 76193136 C CT 420 PASS - - - - - Ins - I 76193136 76193143 1 20 373.563 - - 6 1 1 - - ./. 0 0 0 0 13 18 14 18 0 0 ./. 4 3 5 3 28 30 28 30 5 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719454446 9 80821910 CA C 292 PASS - - - - - Del - D 80821910 80821912 1 24 431.918 - - 1 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 5 4 6 25 30 26 30 5 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719470692 9 137268473 T TCTCAGAGAACCAGTGAGACCTGTGCCGCGTCCTCTGTCTATAGAAGGTGATGCTTAGGGAGCA 290 PASS RXRA CCDS35172.1 r.? - - Ins intronic I 137268473 137268499 63 27 159.696 - - 0 1 1 RXRA|CCDS35172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RXRA|CCDS35172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 12 8 0 0 ./. 8 2 0 0 22 25 30 27 8 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719476232 X 22446820 C CT 540 PASS - - - - - Ins - I 22446820 22446827 1 30 481.636 - - 6 1 1 - - ./. 0 0 0 0 24 16 24 16 0 0 ./. 4 5 4 5 30 28 32 28 4 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719476572 X 23833946 CAG C 300 PASS - - - - - Del - D 23833946 23833964 2 12 269.716 - - 8 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 3 4 3 27 17 27 17 4 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719477348 X 27222035 T TA 480 PASS - - - - - Ins - I 27222035 27222042 1 24 428.656 - - 6 1 1 - - ./. 0 0 0 0 27 7 29 7 0 0 ./. 5 3 6 5 27 28 27 28 6 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719478274 X 31166356 TTA T 360 PASS DMD CCDS14233.1 r.? - - Del intronic D 31166356 31166360 2 15 325.104 - - 1 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 2 6 3 29 22 29 22 6 3 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719481447 X 46740898 A ATAT 360 PASS RP2 CCDS14270.1 r.2908_2909insuau c.? p.? Ins 3'UTR variant I 46740898 46740924 3 16 313.665 - - 8 1 - RP2|CCDS14270.1|r.2908_2909insuau|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 RP2|CCDS14270.1|r.2908_2909insuau|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 3 6 4 12 16 14 16 6 4 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719485876 X 75061982 T TG 420 PASS - - - - - Ins - I 75061982 75061983 1 20 375.074 - - 0 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 4 4 6 30 31 32 31 4 6 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719491925 X 103001159 A AT 420 PASS - - - - - Ins - I 103001159 103001169 1 20 372.666 - - 9 1 1 - - ./. 0 0 0 0 10 4 10 4 0 0 ./. 3 4 3 5 29 35 29 35 3 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719495812 X 124326060 G GA 360 PASS - - - - - Ins - I 124326060 124326070 1 12 319.686 - - 9 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 5 1 6 2 37 21 37 21 6 2 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719495955 X 124904812 GA G 480 PASS - - - - - Del - D 124904812 124904815 1 25 433.472 - - 2 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 4 4 5 16 36 16 36 4 5 1 1 1 1 1 1 1 1 2662664 PD18233a PD18233b 2719500233 X 144692728 AT A 360 PASS - - - - - Del - D 144692728 144692738 1 12 324.502 - - 9 1 1 - - ./. 0 0 0 0 9 21 9 21 0 0 ./. 5 1 9 1 26 30 26 30 9 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727282023 1 7482754 G GCTGT 329 PASS CAMTA1 CCDS30576.1 r.? - - Ins intronic I 7482754 7482759 4 16 304.53 - - 1 1 1 CAMTA1|CCDS30576.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CAMTA1|CCDS30576.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 3 4 3 26 11 26 11 4 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727283495 1 12541471 T TTA 449 PASS VPS13D CCDS30588.1 r.? - - Ins intronic I 12541471 12541481 2 21 418.683 - - 4 1 1 VPS13D|CCDS30588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS13D|CCDS30588.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 15 18 0 0 ./. 2 6 2 6 22 29 22 29 2 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727290119 1 33475575 CAG C 282 PASS AK2 CCDS373.1 r.1594_1595delCU c.? p.? Del 3'UTR variant D 33475575 33475578 2 9 430.122 - - 1 1 1 AK2|CCDS373.1|r.1594_1595delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 AK2|CCDS373.1|r.1594_1595delCU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 18 17 18 0 0 ./. 8 0 8 0 34 28 34 28 8 0 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727294762 1 51547050 ATTCCT A 540 PASS - - - - - Del - D 51547050 51547057 5 30 483.887 - - 1 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 4 5 4 6 19 23 19 23 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727294887 1 51978162 C CA 300 PASS EPS15 CCDS557.1 r.? - - Ins intronic I 51978162 51978172 1 12 265.816 - - 9 1 1 EPS15|CCDS557.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPS15|CCDS557.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 5 6 29 21 29 21 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727296706 1 57847378 TCCA T 329 PASS DAB1 CCDS607.1 r.? - - Del intronic D 57847378 57847383 3 15 322.591 - - 1 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 4 3 8 18 36 18 36 3 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727297293 1 59960698 CT C 420 PASS FGGY CCDS44155.1 r.? - - Del intronic D 59960698 59960704 1 14 372.744 - - 5 1 1 FGGY|CCDS44155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGGY|CCDS44155.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 20 26 20 0 0 ./. 6 1 8 5 28 38 28 39 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727297777 1 61897625 CAAAGTACAGGGAATAA C 290 PASS NFIA CCDS44156.1 r.? - - Del intronic D 61897625 61897645 16 35 535.846 - - 1 1 1 NFIA|CCDS44156.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFIA|CCDS44156.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 4 6 5 29 27 29 27 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727298518 1 63593385 GT G 480 PASS - - - - - Del - D 63593385 63593392 1 21 430.122 - - 6 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 6 2 7 5 37 22 37 22 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727300292 1 69116789 CTCTCTTTGTCACTTTCATGAGAAGAAAAGTAAATCTCACATGCTTTTGCCCAAACCAGACTAACATGTGGGACACTTGGAGATTCTTTCAGGGCCATCTACTTACACATCTTCTTCAGGCAGTGCTTCTTCAATGATCTGCCTTTTCCTTTCTCACCTTCAATTCCCGGGCTGATTTACATGTAAATTTATGCTCTCTAACCCAAGCTGAGCCCTTAGTACCACTTTCAATGCTTTGACTTGTCTTTGGTTCACTCCTTCTCCTATTGACTCACTGATTGTTGCAAGTATGCATCTCTCTCCTTACTTCTCTTGTTCCTAGTCTTACTAGATAGCATATCTTTCTTTTGAACAAAAATTGAAGATATCAATCAAAAACTTCCTCAACTTCTCTTTTTCTCTATTATTTCCTCAGAAGTGTCATAGGAACTGTATGCATTGACAAGGAAGAGTAAGATATGGTTCCTGAATTTATGGAATTAAAAACATATGCTCAAGTACAAAATGAGGGCTATATGCAGTACATGCTAAAGTTTGTAATGATAACAACAAAAATTTGTATAGAGTTATAGAAACCTTAACTACGTTATTTTTTTATGCGTACAACCACTTGGAAGATGAGTATAATTATTACCATCATTATAAAGATGAGTAAACTGAGGCTTAGAGATACAGTGTAATTTGACAAAGATGCCTATTAAAAAATAGCAGAATCAGGACTTGCAGTGGTGTCTGACTTGTAAAAAATAATAGACTCTCCTGTGAACCTATGTGCGATATTTTGCTAACATTTTGTTGACTCTGTTCTCTGCCTCCTGTCTTGGCCCAAATCTGGATGAATGTAAGTCCAGGCAAGCAATCCTAGCAGCAGGCTACAGATATTGCCTTGAACTTTATTCAAAGCAACAGTAACATGTATGTCTGTCTTTTCTCCACCCTGGATTTCTCATTTCTAGGGATCCTTTCCAAGCAGCAAAGTAGAAATAGATTAGATGGGACAACATGGATATATTATATATGAATTATTAACCCTACTTCTGACTAGTAGCAGGAGAAACAAAATGTCAGCAGAAGCTGGAAGCTTCTTCAAACACACAAGCTAAAATTAATCTTTTTTTCATACATAAGTCAGTTTTTTAAATGGCCTATTCCTTTGTCAGGGATACAAACTCTTTCCCAAATCTTCTCATGGTTGGAACCTACTTGTCCTTGTGAGGTTGTCTCACTTTTTACTTATTTTAATTGCATGCATTTTTAAAAATTTTATTCCCATTATCGTTAGGTGAGGTTCCCCTTTCACAAATATCTGAAAAAGGAATATGTTCAGTGCAGCTTTGATCAATATGTTTATATCTATCTAGTAGGAAATTCATTATATGCACAGCTACCATCACTCCCGTAGTTTAAAAAAAAACGCAACCCACTAAAAAGTACAGCCGGATTTCTCTCCTTATTTGACTCTATCTTCCCTAAAGTTTGTCTAAACTGAATGTCTCCGTCTGAATTTACTACATAACTCCTTCTAATTCTACCAGCTAACTTGATGCCTTCCTCTCATCTTCTCCCATAGATTATCCTTCTGATCAATATTTCCCACTTAGCATTCTTAGTCGAGCATAGTCTCAGATTGCATAAACCACCCTCTAATTGAAAGTTATACCCTTATGAGAGCTACATTTCTTATAGACCTGACAGCTTAGTATTTTGTGTTAAGATTTTTTGTTTTCACTTAGTAATAGAGGCTCGAGTGTTTTTCATCAGCTTCCAAAGTACTTACTTTTCAACTGGGGACTTTCTTATGAGAAGGGACAAGGACTATCTACTTCTTTCGAGTTTTTTGGAGGGTTTGAGTCACCTGTGAACTCCAGAACCAAAAATAATTTTCAAAAATGGAAAATATTCAGTTTGTTGTCACATCCTTTATTTATAGGAATAAGTTGCCATCCTAAAACTGCAGGTCTGCAAGGTCTCTTTAACCTTTCCACTTCAACGAAAACATATCCTGAGTAGCAGTTTCTGAAAACAGTATCTGTGCAATGACTACTGTAGAAAAAATAATTTTGGAAGAAGAAAGGAAGCAGGATATTATGCACACCCTCTGAATTCCTAAAACATCATTTAAAAATAGGAGTTCTTAGCCAGAGGAACCCTGTCTGCTTAGAGAGAGTCCTTGCACGTGTAGTAGTCAACTGGTGTAAAAACTAGATTTTCTTCTATGTCAAATTCTCTGCTATATGAAATTGTTTTGTGCAGTAAGAATGGACTCAGTGGTTTATTGGTTATAATGAAAGGCACAGCCTCGGGGAGCACCTCCTTAAGTTGAGGTGAAGTGAAGGGCTGACAGTTTTTACATGGAAAGTGAATATTATAAAGAATGCCAGAGAGCTCCTCAGGGCACTCTGCATGTACATTTTGCTTCAGATTACTTTCTTGTGGAAGCACAGTCTAAGCATTCTACTTTCTCAATTCTAGAAGCTCTGAACAGGGGGCAACCATGCTTTGCTCTACAAGTCAGTAATGTGTGTGTGTGTGTGTGTATGTGTGTGTGCATATGTGTGTTTTCATGTATGTACCATTTTTACTCTCATTGATTTGTGAGGCTTTGTGATGCGGGACACAAAAAGAAAACTTCAAATCTTTAATTATTCTGGCTTTCAGAGTCTTACACTTAGACCAAAGCAGAAGCTAAATTTGATAGTTCTCTGGTTAGAAGGATGGGTTGGTCCCCAAGGTATTAATATGATTTTCCTGATGCGTTTGATACTATATTGTATTTTTTGAGAATACTTGGCTTGGTATTCATTCATGTAGACACAGTTATCCTTCATGAAAGTTAGGCACAGGAATAAAAAAAGTGGTTTAGAGTATGTAGTGTGGAATTAAATCATTCAAATTAATCAGGGATAATAAAAGTTCAAACAGAAGAAAAAAGTGTAACATTCTTAAAGGGCATCTAGCATTCTTAAGACTTACCTGAACCAGTTGCGTAATCTGCCTAATTCACATTCATGAATTAGCAGACGAGGACTGGTAGAATACATAATTTGAAACTGGAGAGTCCTAAGCTGGAATATCAATTCTTCTATTTATCAATAAAAAGTTCTTGAACAAAGTAAGCAAACTTTCTGGGCACCACTGTCCTCATCTGTGGAAAGAGAAAAAATAATGAATATTTACTTGAGTTTTTGTATGAAATATTGTAATACCTTCAAAGTTCCAACTGCCTATCTCACAGCAGGTATTTAGAAATATTACTTATATCATCCACTGTCAGAAAAATCTAGTATTGCTTTGTTTTAGCATATCTATTGTAAAATTCTTAAGGGCTTATATTTTAATAAAGTTAAATTCTTAAAATTAACTTCTCTAAGAGGATATATAAATAGTCAAGTTAACATCATGCACCTAAATTTGAAGGTCTTCTAACACATCTTCCAAAAATAAACATCAAGTAAAGCAGAGGTTAGTAAATTGTTTTTCTGTAAAGGGATTAATAATTGAGGATTTTGGGCCATAGCG C 261 PASS - - - - - Del - D 69116789 69120313 3518 28 483.887 - - 1 1 - - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 3 6 0 0 25 25 28 31 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727300471 1 69796353 GGA G 300 PASS - - - - - Del - D 69796353 69796369 2 10 268.826 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 4 1 4 32 26 32 26 1 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727301844 1 74130851 TATTCTC T 261 PASS - - - - - Del - D 74130851 74130860 6 28 481.479 - - 1 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 6 3 6 5 27 31 27 31 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727301884 1 74259161 CA C 420 PASS - - - - - Del - D 74259161 74259165 1 20 375.755 - - 3 1 1 - - ./. 0 0 0 0 8 3 8 3 0 0 ./. 3 4 3 4 18 21 18 21 3 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727302079 1 74869108 ACATTTGTTCTCTCCCGTGTTACTGCCAAACTTTCAGTATGTCAATACTAATTAAATTAGACATCATTGAACATAAAGTGGGGTT A 261 PASS TNNI3K CCDS44161.1 r.? - - Del intronic D 74869108 74869195 84 24 482.683 - - 1 1 1 TNNI3K|CCDS44161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNNI3K|CCDS44161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 7 2 0 0 33 26 40 28 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727302284 1 75672971 AACTATAAGGC A 290 PASS SLC44A5 CCDS667.1 r.? - - Del intronic D 75672971 75672984 10 36 537.652 - - 1 1 1 SLC44A5|CCDS667.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC44A5|CCDS667.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 20 15 20 0 0 ./. 5 5 5 6 32 29 32 29 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727302524 1 76492214 GGGGGC G 478 PASS - - - - - Del - D 76492214 76492222 5 30 483.887 - - 1 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 5 4 6 4 32 22 32 22 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727302552 1 76554718 ATTTTG A 329 PASS ST6GALNAC3 CCDS672.1 r.? - - Del intronic D 76554718 76554728 5 7 322.591 - - 1 1 1 ST6GALNAC3|CCDS672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST6GALNAC3|CCDS672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 19 2 19 0 0 ./. 0 6 0 7 7 27 7 27 0 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727303869 1 81032510 GTTGATGATGTTCC G 261 PASS - - - - - Del - D 81032510 81032526 13 18 483.887 - - 1 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 8 1 7 1 37 19 38 19 8 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727304372 1 82449512 C CT 540 PASS LPHN2 CCDS689.1 r.? - - Ins intronic I 82449512 82449522 1 30 477.264 - - 9 1 1 LPHN2|CCDS689.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LPHN2|CCDS689.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 15 12 0 0 ./. 5 4 9 5 28 35 28 36 9 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727305487 1 85760032 CCCCAGGATTGAAG C 348 PASS - - - - - Del - D 85760032 85760046 13 48 644.581 - - 1 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 7 5 7 5 36 28 36 28 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727307484 1 92062632 ACATCTG A 290 PASS - - - - - Del - D 92062632 92062641 6 35 536.448 - - 1 1 1 - - ./. 0 0 0 0 10 23 10 23 0 0 ./. 4 6 4 7 29 26 30 26 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727308399 1 94542270 GA G 300 PASS ABCA4 CCDS747.1 r.? - - Del intronic D 94542270 94542273 1 10 267.622 - - 2 1 1 ABCA4|CCDS747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCA4|CCDS747.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 1 4 4 6 25 26 25 26 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727308528 1 95039424 G GT 360 PASS - - - - - Ins - I 95039424 95039434 1 16 318.979 - - 9 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 3 3 3 3 28 45 28 45 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727309321 1 97506948 AC A 720 PASS - - - - - Del - D 97506948 97506950 1 49 641.57 - - 1 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 6 6 7 6 33 24 33 24 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727309452 1 97954189 TCAGACACCA T 348 PASS DPYD CCDS30777.1 r.? - - Del intronic D 97954189 97954199 9 40 641.57 - - 1 1 1 DPYD|CCDS30777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPYD|CCDS30777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 9 5 9 32 33 32 33 5 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727312065 1 106095725 GATGTA G 629 PASS - - - - - Del - D 106095725 106095732 5 42 591.418 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 6 7 6 20 38 20 38 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727313491 1 111188616 C CT 300 PASS - - - - - Ins - I 111188616 111188626 1 10 265.816 - - 9 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 4 1 9 3 43 23 43 23 9 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727314037 1 113048620 A AT 420 PASS WNT2B CCDS847.1 r.? - - Ins upstream I 113048620 113048629 1 20 370.336 - - 8 1 1 WNT2B|CCDS847.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 WNT2B|ENST00000256640|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 9 12 0 0 ./. 3 4 4 6 22 33 22 33 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727314655 1 114866182 AG A 360 PASS - - - - - Del - D 114866182 114866184 1 7 318.979 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 6 0 10 1 41 33 41 33 10 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727315112 1 116548676 T TGATTA 449 PASS SLC22A15 CCDS44198.1 r.? - - Ins intronic I 116548676 116548684 5 24 404.233 - - 1 1 1 SLC22A15|CCDS44198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC22A15|CCDS44198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 3 7 3 39 28 39 28 7 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727315361 1 117587582 TA T 389 PASS - - - - - Del - D 117587582 117587588 1 20 376.357 - - 5 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 4 3 4 4 34 33 34 33 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727316348 1 121189486 GC G 360 PASS - - - - - Del - D 121189486 121189489 1 12 322.591 - - 2 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 5 1 6 1 25 21 25 21 6 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727319584 1 145592066 A AC 360 PASS POLR3C CCDS921.1 r.? - - Ins downstream I 145592066 145592067 1 15 318.377 - - 0 1 1 POLR3C|CCDS921.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 NUDT17|CCDS30830.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 7 14 7 15 0 0 ./. 4 2 4 6 27 28 29 28 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727320676 1 149224894 TA T 420 PASS RNU1-5 ENST00000384010 r.? - - Del upstream D 149224894 149224898 1 18 376.357 - - 3 1 1 RNU1-5|ENST00000384010|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 RNU1-5|ENST00000384010|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 55 57 55 57 0 0 ./. 5 2 7 3 94 90 94 90 7 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727321785 1 152104758 CA C 600 PASS - - - - - Del - D 152104758 152104760 1 32 535.846 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 7 4 8 26 35 26 35 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727321926 1 152590799 C CT 420 PASS LCE3B CCDS1016.1 r.? - - Ins downstream I 152590799 152590803 1 14 372.142 - - 3 1 1 LCE3B|CCDS1016.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 LCE3B|CCDS1016.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 9 24 10 25 0 0 ./. 1 6 3 7 41 56 41 57 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727321992 1 152857282 TG T 600 PASS SMCP CCDS1029.1 r.535delG c.? p.? Del 3'UTR variant D 152857282 152857287 1 36 532.836 - - 4 1 1 SMCP|CCDS1029.1|r.535delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SMCP|CCDS1029.1|r.535delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 5 7 7 30 35 30 35 7 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727321993 1 152862376 TCTTCTGCAG T 435 PASS SMCP CCDS1029.1 r.? - - Del downstream D 152862376 152862390 9 60 803.468 - - 1 1 1 SMCP|CCDS1029.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SMCP|CCDS1029.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 11 5 11 37 33 37 33 5 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727323994 1 158592136 ATTTAG AAT 329 PASS SPTA1 CCDS41423.1 r.? - - Complex intronic DI 158592137 158592141 5 15 0 - - 0 1 - SPTA1|CCDS41423.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 SPTA1|CCDS41423.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 4 0 0 23 21 23 21 2 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727324234 1 159374733 GT G 449 PASS OR10J1 ENST00000328408 r.? - - Del intronic D 159374733 159374738 1 25 428.918 - - 4 1 1 OR10J1|ENST00000328408|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OR10J1|ENST00000328408|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 4 4 6 4 40 36 40 36 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727324368 1 159935790 TATACAACATATTATTA TAACTAAA 261 PASS - - - - - Complex - DI 159935791 159935806 16 24 0 - - 0 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 7 2 0 0 40 21 40 21 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727326840 1 166896841 ACAGGT A 416 PASS ILDR2 CCDS1256.1 r.? - - Del intronic D 166896841 166896847 5 30 479.673 - - 1 1 1 ILDR2|CCDS1256.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ILDR2|CCDS1256.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 4 21 4 0 0 ./. 5 4 5 4 39 30 39 30 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727326960 1 167282909 GCAGGATTTGATGAA G 319 PASS POU2F1 CCDS1259.1 r.? - - Del intronic D 167282909 167282927 14 40 590.815 - - 1 1 1 POU2F1|CCDS1259.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 POU2F1|CCDS1259.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 4 7 4 7 34 42 34 42 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727327077 1 167585302 AG A 360 PASS - - - - - Del - D 167585302 167585304 1 7 313.561 - - 1 1 - - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 0 6 0 8 26 34 26 34 0 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727327974 1 170211008 TC T 600 PASS - - - - - Del - D 170211008 170211010 1 27 537.652 - - 1 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 8 2 9 2 40 36 40 36 9 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727328583 1 171947173 TC T 540 PASS DNM3 CCDS44276.1 r.? - - Del intronic D 171947173 171947176 1 30 480.877 - - 2 1 1 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNM3|CCDS44276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 4 6 4 37 44 37 44 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727328881 1 172944963 A AT 509 PASS - - - - - Ins - I 172944963 172944973 1 28 470.642 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 11 0 0 ./. 6 3 10 6 38 38 38 38 10 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727330223 1 176897511 TA T 540 PASS ASTN1 CCDS1319.1 r.? - - Del intronic D 176897511 176897519 1 24 483.887 - - 7 1 1 ASTN1|CCDS1319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASTN1|CCDS1319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 4 16 4 0 0 ./. 7 2 9 2 48 11 48 11 9 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727330394 1 177754805 ATTAACACATG A 261 PASS - - - - - Del - D 177754805 177754820 10 28 483.887 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 3 5 3 40 35 40 35 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727330572 1 178376041 GTTTATTAAT G 290 PASS RASAL2 CCDS1322.1 r.? - - Del intronic D 178376041 178376053 9 27 537.652 - - 1 1 1 RASAL2|CCDS1322.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASAL2|CCDS1322.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 0 11 0 0 0 ./. 8 2 11 1 36 11 36 12 11 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727331378 1 180132404 CTACTT C 387 PASS QSOX1 CCDS1337.1 r.? - - Del intronic D 180132404 180132412 5 24 428.918 - - 1 1 1 QSOX1|CCDS1337.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 QSOX1|CCDS1337.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 24 12 24 0 0 ./. 3 5 3 5 42 58 42 58 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727331821 1 181224602 AACCCCCAAATCTCAGGGGC A 348 PASS - - - - - Del - D 181224602 181224622 19 48 645.183 - - 1 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 7 5 6 5 40 23 41 23 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727332573 1 183697960 AGAC A 600 PASS RGL1 CCDS1359.1 r.? - - Del intronic D 183697960 183697966 3 32 537.652 - - 1 1 1 RGL1|CCDS1359.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RGL1|CCDS1359.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 7 3 10 28 36 28 36 3 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727332712 1 184133520 TA T 300 PASS - - - - - Del - D 184133520 184133525 1 10 268.826 - - 4 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 4 2 4 22 31 22 31 2 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727333242 1 186103956 CTGCTCTCATCCCATCA C 406 PASS HMCN1 CCDS30956.1 r.? - - Del intronic D 186103956 186103978 16 60 752.713 - - 1 1 1 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 9 5 9 35 49 35 49 5 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727333851 1 187909997 TCTCAAACTCCTGAC T 290 PASS - - - - - Del - D 187909997 187910016 14 36 535.846 - - 1 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 5 5 5 5 35 38 35 38 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727334293 1 188908040 AACTTAACTTG A 261 PASS - - - - - Del - D 188908040 188908057 10 28 483.887 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 3 6 5 34 38 34 38 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727335127 1 191136091 A AT 360 PASS - - - - - Ins - I 191136091 191136101 1 16 309.948 - - 9 1 1 - - ./. 0 0 0 0 26 17 26 18 0 0 ./. 3 3 3 3 50 53 51 54 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727335281 1 191498716 ATAATTAGAGT AAGTG 261 PASS - - - - - Complex - DI 191498717 191498726 10 30 0 - - 0 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 5 4 0 0 39 28 39 28 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727336403 1 194872055 TCATTGATTCACAG T 261 PASS - - - - - Del - D 194872055 194872073 13 30 483.887 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 5 4 5 37 35 37 35 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727336787 1 196014052 TC T 540 PASS - - - - - Del - D 196014052 196014054 1 28 483.887 - - 1 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 6 6 8 47 50 47 50 6 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727337422 1 198160527 CTGATT C 507 PASS NEK7 CCDS1394.1 r.? - - Del intronic D 198160527 198160535 5 35 537.652 - - 1 1 1 NEK7|CCDS1394.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NEK7|CCDS1394.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 4 6 4 40 33 40 33 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727337504 1 198318148 CA C 480 PASS - - - - - Del - D 198318148 198318158 1 25 430.122 - - 9 1 1 - - ./. 0 0 0 0 4 13 4 13 0 0 ./. 4 4 5 9 28 31 28 31 5 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727339198 1 202804375 GTCTGCATGGTTCATGCAGATTGCGACAACCTAGACCCTGCCTGAGGTACAGCTCCTGGGTCACCTCATGCAACCAAAGGTGGGCGTCTCGGGGAGGTTCCCACCAGCGCAGGGAGGTGGCTTCTGAGCAACCTCACTAAAGTCTCCACCAAATTGCCAGCAGGGCCCAGGCCTTTCCCTGACTGTCCCAGCTCTCTCAATGCAATGAATCTGGGAAACCCAAACATCCTGCCCCTCTTACCCCATCAGACCTGCCCTTCCAGGGATATGGCTTTCCCTCACCCAGGGAAAAGGCTGAGGGGGCCTCAGGCTGCTGTGGGGGACATGGGTGTCCTCCTTTCTTGGTGACCAGCAATTTGACTTTGGCCAGTGTGAAGAGTGGGGCTCTGATGGGGGTGTGGGAGGAGGAAATGAAGTGGGAGCACAGCCCGCCCCCATCC G 261 PASS - - - - - Del - D 202804375 202804818 439 28 473.05 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 3 0 0 27 31 33 34 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727342362 1 212725166 CCTCAGTGCTTCTGTCTCGGGGTTGTTGTTGTCCCCTTTCCTCTCT C 290 PASS - - - - - Del - D 212725166 212725214 45 35 537.05 - - 1 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 6 4 0 1 21 24 27 27 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727342469 1 213047244 TTAATC T 633 PASS FLVCR1 CCDS1510.1 r.? - - Del intronic D 213047244 213047254 5 56 698.948 - - 1 1 1 FLVCR1|CCDS1510.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FLVCR1|CCDS1510.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 6 8 6 41 49 41 49 8 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727343356 1 215880311 TACTTAATTAAAAATAAAAACA T 319 PASS USH2A CCDS31025.1 r.? - - Del intronic D 215880311 215880337 21 42 591.418 - - 1 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 6 5 5 29 38 29 39 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727345018 1 221203736 TATA T 718 PASS - - - - - Del - D 221203736 221203744 3 56 692.927 - - 2 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 7 11 7 39 40 39 40 11 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727346737 1 227034633 GGTGCCTT G 290 PASS - - - - - Del - D 227034633 227034642 7 27 535.244 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 8 2 9 3 33 33 33 33 9 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727348395 1 232472119 GTTA G 540 PASS - - - - - Del - D 232472119 232472125 3 30 482.683 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 4 7 4 35 27 35 27 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727348429 1 232626666 TTGGAAGCCT TCA 377 PASS SIPA1L2 CCDS41474.1 r.2110_2118delAGGCUUCCAinsug c.1751_1759delAGGCTTCCAinsTG p.Q584fs*18 Complex frameshift DI 232626667 232626675 9 54 0 - - 0 1 1 SIPA1L2|CCDS41474.1|r.2110_2118delAGGCUUCCAinsug|c.1751_1759delAGGCTTCCAinsTG|p.Q584fs*18|protein_coding:CDS:exon:indel:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:1000032:SO:0001589 SIPA1L2|CCDS41474.1|r.2110_2118delAGGCUUCCAinsug|c.1751_1759delAGGCTTCCAinsTG|p.Q584fs*18|protein_coding:CDS:exon:indel:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:1000032:SO:0001589 ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 8 0 0 26 29 26 29 5 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727349746 1 236483518 AT A 420 PASS - - - - - Del - D 236483518 236483522 1 20 376.357 - - 3 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 4 5 6 32 43 32 43 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727350481 1 238159560 CACC CTT 416 PASS - - - - - Complex - DI 238159561 238159563 3 30 0 - - 0 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 5 0 0 32 39 32 39 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727351636 1 241011465 AG A 600 PASS RGS7 CCDS31071.1 r.? - - Del intronic D 241011465 241011468 1 32 537.652 - - 2 1 1 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 7 5 9 32 37 32 37 5 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727355746 10 2281652 A AT 300 PASS - - - - - Ins - I 2281652 2281662 1 10 266.095 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 1 4 1 5 25 38 25 38 1 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727357104 10 5728000 TAGCAA T 838 PASS C10orf18 CCDS41485.1 r.? - - Del intronic D 5728000 5728010 5 70 808.52 - - 1 1 1 C10orf18|CCDS41485.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C10orf18|CCDS41485.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 6 9 8 11 32 39 32 39 8 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727357183 10 5852515 AG A 449 PASS GDI2 CCDS7071.1 r.? - - Del intronic D 5852515 5852521 1 21 429.726 - - 5 1 1 GDI2|CCDS7071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GDI2|CCDS7071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 6 4 7 35 25 35 25 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727358410 10 8568320 A AT 300 PASS - - - - - Ins - I 8568320 8568330 1 12 266.697 - - 9 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 3 3 3 36 24 37 24 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727359233 10 10883944 GT G 660 PASS - - - - - Del - D 10883944 10883949 1 42 593.357 - - 4 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 6 5 7 7 27 32 27 32 7 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727361219 10 15741296 C CA 300 PASS ITGA8 CCDS31155.1 r.? - - Ins intronic I 15741296 15741304 1 12 265.493 - - 7 1 1 ITGA8|CCDS31155.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ITGA8|CCDS31155.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 21 19 21 0 0 ./. 2 3 3 5 49 26 49 27 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727361751 10 17330800 G GA 420 PASS - - - - - Ins - I 17330800 17330807 1 20 372.774 - - 6 1 1 - - ./. 0 0 0 0 20 13 21 13 0 0 ./. 3 4 4 6 29 33 29 33 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727362011 10 18362782 TAG T 300 PASS - - - - - Del - D 18362782 18362785 2 12 269.708 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 3 3 5 16 22 16 22 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727363369 10 22401120 CCCATGACTATCTTT C 290 PASS ENSG00000224369 ENST00000412505 r.? - - Del intronic D 22401120 22401138 14 35 538.211 - - 1 1 1 ENSG00000224369|ENST00000412505|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000224369|ENST00000412505|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 4 6 4 28 31 28 31 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727364537 10 26943343 GACTC G 260 PASS - - - - - Del - D 26943343 26943350 4 16 323.649 - - 1 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 3 3 4 29 30 29 30 3 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727366561 10 31905456 ACAACAAAACAGCAAT A 292 PASS - - - - - Del - D 31905456 31905474 15 28 485.474 - - 1 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 6 3 6 2 31 25 31 25 7 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727368019 10 36531280 AG A 300 PASS - - - - - Del - D 36531280 36531282 1 10 269.708 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 1 4 2 26 24 26 24 4 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727372739 10 53216264 G GA 269 PASS PRKG1 CCDS7244.1 r.? - - Ins intronic I 53216264 53216274 1 12 260.677 - - 9 1 1 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 2 3 2 3 34 39 34 39 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727372844 10 53510986 C CTGTTTGTTTGTTTGTT 261 PASS PRKG1 CCDS7244.1 r.? - - Ins intronic I 53510986 53511008 16 30 398.777 - - 5 1 - PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 5 4 4 3 39 32 40 33 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727373084 10 54301394 AC A 600 PASS - - - - - Del - D 54301394 54301397 1 36 539.415 - - 2 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 5 7 7 33 30 33 30 7 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727373121 10 54402435 A AT 360 PASS - - - - - Ins - I 54402435 54402444 1 16 319.435 - - 8 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 3 3 5 4 41 37 41 38 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727373332 10 54926585 ACACACTTT A 348 PASS - - - - - Del - D 54926585 54926596 8 49 646.696 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 6 6 6 27 30 27 30 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727375132 10 59724849 AG A 540 PASS - - - - - Del - D 59724849 59724851 1 24 483.667 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 7 2 8 5 37 27 37 27 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727375797 10 61765020 ATTTATTAAACCACTAAACT A 261 PASS - - - - - Del - D 61765020 61765043 19 28 485.474 - - 1 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 6 3 6 3 37 26 37 26 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727376036 10 62461618 ACCATAAG A 348 PASS ANK3 ENST00000373827 r.? - - Del intronic D 62461618 62461627 7 45 645.492 - - 1 1 1 ANK3|ENST00000373827|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANK3|ENST00000373827|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 4 8 5 9 31 35 31 36 5 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727377117 10 65816688 GTAGATGTGGCAGATGTGAT G 290 PASS - - - - - Del - D 65816688 65816710 19 35 538.211 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 6 4 5 2 28 38 29 40 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727377198 10 66206249 TTGTTTTTCCAATATTCCACAACAACCTATCT TTAA 261 PASS - - - - - Complex - DI 66206250 66206280 31 30 0 - - 0 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 4 0 0 34 37 34 39 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727378172 10 68845918 AT A 600 PASS LRRTM3 CCDS7270.1 r.? - - Del intronic D 68845918 68845927 1 36 539.415 - - 8 1 1 LRRTM3|CCDS7270.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRTM3|CCDS7270.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 5 6 5 28 29 28 29 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727378552 10 69920198 A AC 269 PASS MYPN CCDS7275.1 r.? - - Ins intronic I 69920198 69920199 1 6 255.86 - - 0 1 - MYPN|CCDS7275.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYPN|CCDS7275.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 9 0 0 ./. 5 0 9 0 32 7 32 7 9 0 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727380391 10 74722217 TTTCAA T 600 PASS - - - - - Del - D 74722217 74722225 5 20 539.415 - - 1 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 1 9 1 12 37 33 37 33 1 12 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727384720 10 89072292 G GA 259 PASS - - - - - Ins - I 89072292 89072296 1 8 373.376 - - 3 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 7 0 8 0 31 23 32 23 8 0 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727384960 10 89984229 A AC 600 PASS - - - - - Ins - I 89984229 89984234 1 32 532.19 - - 4 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 7 3 9 4 28 28 29 28 9 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727386902 10 96731475 AT A 360 PASS CYP2C9 CCDS7437.1 r.? - - Del intronic D 96731475 96731480 1 12 322.445 - - 4 1 1 CYP2C9|CCDS7437.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYP2C9|CCDS7437.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 1 5 2 6 26 30 26 30 2 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727387578 10 98854740 AAG A 300 PASS SLIT1 CCDS7453.1 r.? - - Del intronic D 98854740 98854756 2 12 269.708 - - 7 1 1 SLIT1|CCDS7453.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT1|CCDS7453.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 3 2 18 19 18 19 3 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727387816 10 99721187 AC A 629 PASS CRTAC1 CCDS31266.1 r.? - - Del intronic D 99721187 99721189 1 36 590.948 - - 1 1 1 CRTAC1|CCDS31266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRTAC1|CCDS31266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 8 5 9 23 36 23 36 5 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727390796 10 109065510 GC G 540 PASS - - - - - Del - D 109065510 109065512 1 30 485.474 - - 1 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 5 5 6 25 34 25 34 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727393161 10 117401961 C CT 300 PASS ATRNL1 CCDS7592.1 r.? - - Ins intronic I 117401961 117401971 1 12 259.472 - - 9 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 2 4 3 22 18 22 18 4 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727398082 10 132773905 CTGTGGTTCTTTTCCAAAGA C 348 PASS - - - - - Del - D 132773905 132773928 19 48 643.686 - - 1 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 5 7 5 5 21 25 21 27 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727399730 11 2471403 GACTCTGTCC G 319 PASS KCNQ1 CCDS7736.1 r.? - - Del intronic D 2471403 2471415 9 40 591.652 - - 1 1 1 KCNQ1|CCDS7736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ1|CCDS7736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 6 20 6 0 0 ./. 7 4 9 6 21 25 21 25 9 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727403529 11 13257347 AC A 480 PASS - - - - - Del - D 13257347 13257349 1 25 432.481 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 4 7 9 23 25 23 25 7 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727403931 11 14756026 CT C 360 PASS PDE3B CCDS7817.1 r.? - - Del intronic D 14756026 14756030 1 15 322.555 - - 3 1 1 PDE3B|CCDS7817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE3B|CCDS7817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 2 4 2 5 24 29 24 29 2 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727404532 11 17145583 CAT C 300 PASS PIK3C2A CCDS7824.1 r.? - - Del intronic D 17145583 17145600 2 6 270.301 - - 8 1 1 PIK3C2A|CCDS7824.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AC126389.1|ENST00000500523|r.596_597delAU|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 11 10 11 10 0 0 ./. 0 5 0 5 17 25 17 25 0 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727405539 11 20424970 ATTTAG A 298 PASS PRMT3 CCDS7853.1 r.? - - Del intronic D 20424970 20424980 5 15 324.361 - - 1 1 1 PRMT3|CCDS7853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRMT3|CCDS7853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 2 6 3 45 22 45 22 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727406417 11 22918266 AAC A 300 PASS AC090639.1 ENST00000499625 r.? - - Del intronic D 22918266 22918282 2 12 270.301 - - 7 1 1 AC090639.1|ENST00000499625|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC090639.1|ENST00000499625|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 2 3 2 45 20 45 20 3 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727406745 11 23793552 AT A 449 PASS - - - - - Del - D 23793552 23793557 1 25 428.267 - - 4 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 4 4 4 7 24 39 24 39 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727407416 11 25309148 GCTT G 356 PASS - - - - - Del - D 25309148 25309152 3 25 432.481 - - 1 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 4 4 6 25 27 25 27 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727407784 11 26061507 GATTT G 358 PASS - - - - - Del - D 26061507 26061517 4 18 378.421 - - 2 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 5 2 5 2 35 23 35 23 5 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727408516 11 28141498 ATCTTTTTAAATTTTTTTTGAGACGGAGTC A 261 PASS METT5D1 CCDS31450.1 r.? - - Del intronic D 28141498 28141530 29 30 486.542 - - 1 1 1 METT5D1|CCDS31450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 METT5D1|CCDS31450.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 12 5 12 0 0 ./. 4 5 2 2 17 18 19 21 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727409602 11 32206273 AT A 300 PASS - - - - - Del - D 32206273 32206283 1 12 264.882 - - 9 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 6 5 19 15 19 15 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727410153 11 33874188 TGCTCTCTTAGCTCCG T 290 PASS - - - - - Del - D 33874188 33874205 15 36 540.602 - - 1 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 5 5 4 5 24 29 25 29 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727410171 11 33918526 CT C 480 PASS LMO2 CCDS7888.2 r.? - - Del upstream D 33918526 33918531 1 21 430.073 - - 4 1 1 LMO2|CCDS7888.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LMO2|CCDS7888.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 6 3 7 25 34 25 34 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727410899 11 36041627 GTGCCCCGGAGTTCTGGAGGCAAGCTTTTACCTGCCAAAGT G 261 PASS LDLRAD3 CCDS31462.1 r.? - - Del intronic D 36041627 36041671 40 28 486.542 - - 1 1 1 LDLRAD3|CCDS31462.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LDLRAD3|CCDS31462.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 3 6 0 3 17 27 20 31 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727411282 11 37380450 G GA 360 PASS - - - - - Ins - I 37380450 37380460 1 16 317.136 - - 9 1 1 - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 3 3 4 3 45 38 45 38 4 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727414663 11 47512473 GTGCCATCTCGGCTCACTGCAACCTC G 261 PASS CELF1 CCDS7939.1 r.? - - Del intronic D 47512473 47512503 25 28 476.909 - - 1 1 1 CELF1|CCDS7939.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CELF1|CCDS7939.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 5 17 5 0 0 ./. 3 6 2 6 30 23 31 24 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727415903 11 50414564 G GA 420 PASS - - - - - Ins - I 50414564 50414571 1 20 374.207 - - 6 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 3 4 5 9 28 44 28 44 5 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727416187 11 54945580 CAGATCCTAGAAAAAGACTGTTTCCACACAGCTGAATCAAA C 261 PASS - - - - - Del - D 54945580 54945624 40 24 486.542 - - 1 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 2 7 1 4 26 32 27 35 2 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727416358 11 55768417 TA T 540 PASS - - - - - Del - D 55768417 55768421 1 28 486.542 - - 3 1 1 - - ./. 0 0 0 0 24 13 24 13 0 0 ./. 3 6 7 7 38 28 38 28 7 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727416504 11 56271080 AG A 365 PASS - - - - - Del - D 56271080 56271082 1 28 484.133 - - 1 1 1 - - ./. 0 0 0 0 23 21 23 21 0 0 ./. 3 6 4 9 41 37 41 37 4 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727416724 11 57057460 G GT 660 PASS - - - - - Ins - I 57057460 57057468 1 42 587.437 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 6 5 7 33 41 33 41 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727417127 11 58445654 ATTTGATTTTCTGTT A 290 PASS - - - - - Del - D 58445654 58445673 14 27 540.602 - - 1 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 8 2 7 1 29 28 29 29 8 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727417150 11 58494587 AG A 420 PASS GLYAT CCDS7970.1 r.? - - Del intronic D 58494587 58494589 1 18 378.421 - - 1 1 1 GLYAT|CCDS7970.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GLYAT|CCDS7970.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 17 5 17 0 0 ./. 2 5 3 12 32 37 32 37 3 12 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727420520 11 69276421 A AC 480 PASS - - - - - Ins - I 69276421 69276428 1 24 422.848 - - 6 1 1 - - ./. 0 0 0 0 26 10 26 10 0 0 ./. 3 5 3 5 39 39 39 39 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727421500 11 72584744 GC G 420 PASS FCHSD2 CCDS8218.2 r.? - - Del intronic D 72584744 72584746 1 18 376.615 - - 1 1 1 FCHSD2|CCDS8218.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FCHSD2|CCDS8218.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 2 9 3 30 20 30 20 9 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727421736 11 73423776 T TA 540 PASS RAB6A CCDS8223.1 r.? - - Ins intronic I 73423776 73423777 1 30 479.317 - - 0 1 1 RAB6A|CCDS8223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAB6A|CCDS8223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 4 13 4 0 0 ./. 5 4 7 4 23 25 23 25 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727422474 11 76084959 CACAAATA C 261 PASS PRKRIR CCDS8243.1 r.? - - Del intronic D 76084959 76084969 7 24 486.542 - - 1 1 1 PRKRIR|CCDS8243.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKRIR|CCDS8243.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 6 16 6 0 0 ./. 7 2 7 3 32 12 32 12 8 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727422894 11 77334095 ACTG A 658 PASS CLNS1A CCDS8252.1 r.? - - Del intronic D 77334095 77334102 3 48 648.722 - - 2 1 1 CLNS1A|CCDS8252.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLNS1A|CCDS8252.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 9 23 9 0 0 ./. 7 5 9 5 29 16 29 16 9 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727424303 11 82697103 TGTCTAA T 377 PASS RAB30 CCDS8264.1 r.? - - Del intronic D 82697103 82697112 6 44 698.568 - - 1 1 1 RAB30|CCDS8264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB30|CCDS8264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 22 16 22 0 0 ./. 10 3 10 4 30 20 30 21 10 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727425308 11 86708658 G GC 420 PASS AP001528.1 ENST00000499504 r.? - - Ins intronic I 86708658 86708661 1 14 372.401 - - 2 1 1 AP001528.1|ENST00000499504|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AP001528.1|ENST00000499504|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 1 6 2 7 11 23 11 23 2 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727425907 11 88512703 AT A 540 PASS GRM5 CCDS44694.1 r.? - - Del intronic D 88512703 88512711 1 30 484.735 - - 7 1 1 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM5|CCDS44694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 4 5 6 6 30 29 30 29 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727426548 11 90689939 ACAGT A 449 PASS - - - - - Del - D 90689939 90689945 4 25 432.481 - - 1 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 4 4 6 4 24 27 24 27 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727427482 11 94024228 ATATCTAGAATCTACAAGGAAC A 261 PASS - - - - - Del - D 94024228 94024251 21 24 485.337 - - 1 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 7 2 6 31 22 31 23 2 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727429805 11 101625640 TTAACATGTTGGATTTAGA T 290 PASS - - - - - Del - D 101625640 101625662 18 27 539.398 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 8 2 8 2 29 19 29 19 8 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727430377 11 103696656 GA G 629 PASS - - - - - Del - D 103696656 103696662 1 30 594.662 - - 5 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 9 3 13 21 34 21 34 3 13 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727430636 11 104727852 A AC 360 PASS - - - - - Ins - I 104727852 104727853 1 15 320.749 - - 0 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 4 5 4 20 24 20 24 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727433468 11 114479940 GT G 300 PASS - - - - - Del - D 114479940 114479945 1 12 266.086 - - 4 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 2 3 5 21 21 21 21 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727433560 11 114813472 TA T 540 PASS - - - - - Del - D 114813472 114813481 1 30 486.542 - - 8 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 4 5 6 6 22 31 22 31 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727433881 11 115708778 AGTCT A 269 PASS - - - - - Del - D 115708778 115708786 4 10 270.301 - - 1 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 1 4 2 5 17 30 17 30 2 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727436684 11 125416021 CCT C 300 PASS - - - - - Del - D 125416021 125416036 2 12 270.301 - - 7 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 3 2 3 23 36 23 36 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727437206 11 127280641 AC A 300 PASS - - - - - Del - D 127280641 127280646 1 10 269.699 - - 4 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 1 5 3 23 20 23 20 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727438680 11 133112883 GGTCTCTGCTTTCT G 319 PASS ENSG00000183715 CCDS31722.1 r.? - - Del intronic D 133112883 133112904 13 42 591.05 - - 1 1 1 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000183715|CCDS31722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 6 5 6 32 23 32 23 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727439611 12 1332877 TGTTTATTATAATA T 406 PASS ERC1 CCDS8508.1 r.? - - Del intronic D 1332877 1332894 13 39 756.315 - - 1 1 1 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 12 2 11 29 43 29 44 2 12 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727440028 12 2781519 T TA 480 PASS CACNA1C CCDS44794.1 r.? - - Ins intronic I 2781519 2781529 1 24 427.363 - - 9 1 1 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 5 3 8 5 45 35 45 35 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727442909 12 10173714 C CA 269 PASS CLEC12A CCDS8610.1 r.? - - Ins downstream I 10173714 10173716 1 12 267.102 - - 1 1 1 CLEC12A|CCDS8610.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CLEC12A|CCDS8610.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 3 3 3 35 22 35 22 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727443167 12 10661997 CAG C 420 PASS ENSG00000180574 ENST00000322446 r.? - - Del intronic D 10661997 10662002 2 18 378.157 - - 2 1 1 ENSG00000180574|ENST00000322446|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000180574|ENST00000322446|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 6 12 0 0 ./. 2 5 2 5 29 28 29 28 2 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727443908 12 12339149 C CA 329 PASS LRP6 CCDS8647.1 r.? - - Ins intronic I 12339149 12339157 1 15 320.523 - - 7 1 1 LRP6|CCDS8647.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRP6|CCDS8647.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 2 4 6 4 28 24 28 24 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727445182 12 16073954 G GT 360 PASS DERA CCDS44838.1 r.? - - Ins intronic I 16073954 16073962 1 16 320.523 - - 7 1 1 DERA|CCDS44838.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DERA|CCDS44838.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 3 3 5 31 36 32 36 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727445463 12 16914070 AT A 420 PASS - - - - - Del - D 16914070 16914079 1 18 378.157 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 2 6 3 44 24 44 24 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727445538 12 17210721 TGGCATCTCTGCCA T 290 PASS - - - - - Del - D 17210721 17210738 13 27 539.623 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 8 2 8 2 38 18 38 18 8 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727446027 12 18573683 CTG C 569 PASS PIK3C2G CCDS44839.1 r.? - - Del intronic D 18573683 18573687 2 35 540.225 - - 1 1 1 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 6 4 7 6 42 33 42 33 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727446728 12 20287909 GTTCTGACATTT G 377 PASS - - - - - Del - D 20287909 20287923 11 54 701.69 - - 1 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 8 5 8 6 37 33 37 33 8 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727446775 12 20435093 GTCA G 360 PASS - - - - - Del - D 20435093 20435099 3 15 324.135 - - 1 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 4 2 5 3 33 26 33 26 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727446887 12 20757881 ATTCTGAGTTGAAAAGCCTTTAGGTGTGTTGTGATTTTCTTT A 261 PASS PDE3A CCDS31754.1 r.? - - Del intronic D 20757881 20757925 41 24 486.202 - - 1 1 1 PDE3A|CCDS31754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE3A|CCDS31754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 7 2 3 0 19 14 23 16 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727447723 12 22942725 TTACCAGTGTTATGGGATGAGTTTTGTTCCCCTTTGCCAAATTCACATA T 261 PASS - - - - - Del - D 22942725 22942775 48 30 486.202 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 4 2 0 32 28 34 32 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727447961 12 23654281 TTC T 300 PASS - - - - - Del - D 23654281 23654285 2 12 264.092 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 2 4 22 34 22 34 2 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727449283 12 27175447 CGCGT C 298 PASS MED21 CCDS8711.1 r.? - - Del upstream D 27175447 27175454 4 12 324.135 - - 1 1 1 MED21|CCDS8711.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 MED21|CCDS8711.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 4 13 4 0 0 ./. 5 1 5 1 26 13 26 13 5 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727449866 12 29001142 AAGATAG A 319 PASS - - - - - Del - D 29001142 29001151 6 40 594.247 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 4 7 6 31 22 31 22 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727452472 12 38812289 TA T 540 PASS - - - - - Del - D 38812289 38812298 1 28 485.6 - - 8 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 6 6 11 32 38 32 38 6 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727452694 12 39704911 TATTTAA T 319 PASS KIF21A CCDS31773.1 r.? - - Del intronic D 39704911 39704920 6 42 594.247 - - 1 1 1 KIF21A|CCDS31773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF21A|CCDS31773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 6 6 6 36 34 36 34 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727453172 12 41328095 GCTGGGCCAAA G 261 PASS CNTN1 CCDS8737.1 r.? - - Del intronic D 41328095 41328108 10 24 486.202 - - 1 1 1 CNTN1|CCDS8737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTN1|CCDS8737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 7 3 7 26 27 26 27 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727453461 12 42288740 CCTGTCTCAGGGCAT C 290 PASS - - - - - Del - D 42288740 42288758 14 36 539.623 - - 1 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 5 5 5 30 26 30 27 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727454360 12 45135032 AT A 592 PASS NELL2 CCDS8746.1 r.? - - Del intronic D 45135032 45135037 1 27 539.021 - - 4 1 1 NELL2|CCDS8746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NELL2|CCDS8746.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 8 2 11 5 42 30 42 30 11 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727456091 12 50873817 ATGTCTAATGACTACTTC A 334 PASS LARP4 CCDS44879.1 r.? - - Del downstream D 50873817 50873841 17 48 648.27 - - 1 1 1 LARP4|CCDS44879.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 LARP4|CCDS44879.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 7 6 5 37 33 37 33 6 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727456994 12 53380515 G GT 540 PASS - - - - - Ins - I 53380515 53380523 1 28 480.784 - - 7 1 1 - - ./. 0 0 0 0 9 29 9 29 0 0 ./. 3 6 7 7 29 60 29 60 7 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727458515 12 57496675 GACGATGACCACCAGGGGCAGAGACAGGGCCTGAAGAGGGTGAGGACAGGGGTTTCTTTTCTTTCTTTCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGATAGTATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTAGTGCAATCTCAGCTCACTGCAGCCTCAGCCTTCAGGGCTCAAGTGATCC G 261 PASS STAT6 CCDS8931.1 r.1484-182_1512del211 c.1213-182_1241del211 p.? Del ess splice D 57496675 57496887 211 28 484.396 - - 1 1 - STAT6|CCDS8931.1|r.1484-182_1512del211|c.1213-182_1241del211|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 STAT6|CCDS8931.1|r.1484-182_1512del211|c.1213-182_1241del211|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 6 0 0 12 14 15 20 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727459871 12 61775810 G GT 298 PASS - - - - - Ins - I 61775810 61775820 1 15 319.921 - - 9 1 1 - - ./. 0 0 0 0 2 13 2 13 0 0 ./. 2 4 2 3 38 40 38 40 2 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727460114 12 62569703 TA T 360 PASS - - - - - Del - D 62569703 62569713 1 15 324.135 - - 9 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 2 7 4 22 9 22 9 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727464255 12 74674736 GGTTTAGACAAA G 406 PASS - - - - - Del - D 74674736 74674751 11 55 755.713 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 10 4 10 5 27 34 27 34 10 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727465763 12 79674342 CCTAGGGAAAAAAACT C 464 PASS SYT1 CCDS9017.1 r.? - - Del intronic D 79674342 79674360 15 77 864.36 - - 1 1 1 SYT1|CCDS9017.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYT1|CCDS9017.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 10 6 11 31 38 31 38 6 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727466243 12 81307577 CTATTCTGCAT C 493 PASS LIN7A CCDS9021.1 r.? - - Del intronic D 81307577 81307592 10 78 918.383 - - 1 1 1 LIN7A|CCDS9021.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIN7A|CCDS9021.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 18 21 18 0 0 ./. 5 12 5 13 31 37 31 37 5 13 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727466519 12 82273327 CAT C 780 PASS - - - - - Del - D 82273327 82273333 2 50 702.292 - - 2 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 9 4 10 8 35 33 35 33 10 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727466709 12 82852940 CAGATATGGCAAAAA CTGAATTT 754 PASS C12orf26 CCDS9024.1 r.? - - Complex intronic DI 82852941 82852954 14 196 0 - - 0 1 1 C12orf26|CCDS9024.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 C12orf26|CCDS9024.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 13 13 0 0 43 56 45 56 13 13 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727466862 12 83393401 AAG A 300 PASS TMTC2 CCDS9025.1 r.? - - Del intronic D 83393401 83393421 2 12 268.306 - - 9 1 1 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 3 3 3 39 39 39 39 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727467722 12 86270199 AATCATATGCTT A 261 PASS NTS CCDS9029.1 r.? - - Del intronic D 86270199 86270213 11 24 486.202 - - 1 1 1 NTS|CCDS9029.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTS|CCDS9029.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 22 10 22 0 0 ./. 2 7 3 8 16 41 16 41 3 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727471461 12 97632920 GT G 420 PASS - - - - - Del - D 97632920 97632922 1 20 378.157 - - 1 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 3 4 3 6 18 29 18 29 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727472508 12 101505850 A ATT 600 PASS ANO4 CCDS31884.1 r.? - - Ins intronic I 101505850 101505851 2 32 528.184 - - 0 1 1 ANO4|CCDS31884.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANO4|CCDS31884.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 9 9 0 0 ./. 7 3 9 3 35 21 35 21 9 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727475306 12 111601023 CAT C 457 PASS CUX2 CCDS41837.1 r.? - - Del intronic D 111601023 111601029 2 25 430.976 - - 2 1 1 CUX2|CCDS41837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUX2|CCDS41837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 4 7 4 26 28 26 28 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727475319 12 111709592 CCCAGAGAGTGGATTTTTTCTA C 348 PASS CUX2 CCDS41837.1 r.? - - Del intronic D 111709592 111709623 21 33 648.27 - - 1 1 1 CUX2|CCDS41837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUX2|CCDS41837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 10 2 10 29 28 29 28 2 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727476340 12 115355474 CGAGGTTTTATTTTGCGATTTGAGATAGGAGATATTGATGGCTTCCCCTCAATGGAGGAGAAATTGGGGATACAAGGGCAAGAACCATGTTAACTGCAGCCAGGGCTGACATTAAGTTGGGATGCATTGGTACAGCTTTATGGGTAGTTAAAACATAAGAAGACTTACCACTGTCCCACTATTCCACACTCTAAGAGAAGCATATAATTAGTCTCCCAGCCCCCAATCCCATGTATTCCTTTATGTGATTACATAAGTAATGCCTGTCATCCCCATTAGATCAGGAGCTCTGTATTGTTCAGATGCCTACATTTGGTTGTGGTTCAGAGTAGTTGCTTGTTGTAGGCATCCTCTAAGATGGCTCTCAATGACCTTGCCTTCTGGTGTCCAGGCCCTTGTATAAATCCTACCCCCCAACCCCCAATGCCACTGAAG C 435 PASS - - - - - Del - D 115355474 115355909 434 70 809.735 - - 1 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 9 0 0 34 30 40 39 6 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727477120 12 117384543 AGCCCCCAGTCCCTCTTGCCCGTGTGCCTGGGTAGGTCCATGTGATGCACACAGGC A 348 PASS FBXW8 CCDS9182.1 r.? - - Del intronic D 117384543 117384599 55 45 648.27 - - 1 1 1 FBXW8|CCDS9182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXW8|CCDS9182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 8 4 1 0 34 27 41 31 8 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727480975 12 125968586 AGT A 269 PASS TMEM132B CCDS41859.1 r.? - - Del intronic D 125968586 125968591 2 12 265.898 - - 2 1 1 TMEM132B|CCDS41859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM132B|CCDS41859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 2 3 4 4 28 31 28 31 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727481183 12 126725228 CAAGCTAA C 435 PASS - - - - - Del - D 126725228 126725238 7 70 805.521 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 9 6 11 6 36 30 36 30 11 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727481191 12 126759060 CT C 900 PASS - - - - - Del - D 126759060 126759065 1 72 809.735 - - 4 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 8 7 9 8 40 58 40 58 9 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727481267 12 126986918 TCTTC T 418 PASS - - - - - Del - D 126986918 126986926 4 24 432.18 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 5 4 7 30 42 30 42 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727481638 12 127791181 GATATGTCTACTGTA G 377 PASS - - - - - Del - D 127791181 127791200 14 56 701.088 - - 1 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 6 7 8 8 33 30 33 30 8 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727482735 12 130460560 GATGAGTATTCAAAGGCATACAAATTGATATGATGGACTTTGGAGACTCAGAAGGTGGGGAGAGTGAGATTGGAGTATGGGATTAAAAAATTACATATTGGGTACAGCAAACACTACGCGGGTGACAGGCGCACAGAATTTGCTACT G 261 PASS - - - - - Del - D 130460560 130460710 146 30 484.998 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 5 0 0 36 27 40 32 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727484340 13 19566362 AG A 480 PASS - - - - - Del - D 19566362 19566364 1 25 433.352 - - 1 1 - - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 4 5 6 30 35 30 35 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727485155 13 20864915 CCAAGTTCAACTAAATGCATAACAAAAACTAGTGGAGACATGGAAGATGCAGAGATGAAATTGTACTTGCAGACTTCAATGTTATACTATCAGGTTTCAGGGGCTTTTGAAGACCCACTGAGCA C 290 PASS - - - - - Del - D 20864915 20865041 123 27 539.281 - - 1 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 2 8 0 0 17 25 19 33 2 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727485262 13 21108405 GCCTGTTAGTCTGGCTAAGGGTCCAGGCCACTCACAGACA G 338 PASS - - - - - Del - D 21108405 21108447 39 54 701.788 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 8 3 3 24 27 26 32 5 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727485527 13 21655494 AGACTGG A 261 PASS - - - - - Del - D 21655494 21655503 6 24 487.521 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 2 7 2 6 12 33 13 34 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727486133 13 23274117 GTTTAATAAATAGTA G 348 PASS ENSG00000223616 ENST00000419468 r.? - - Del intronic D 23274117 23274138 14 49 650.027 - - 1 1 1 ENSG00000223616|ENST00000419468|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000223616|ENST00000419468|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 22 13 22 0 0 ./. 6 6 6 7 35 35 35 35 6 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727486258 13 23555170 TC T 420 PASS - - - - - Del - D 23555170 23555173 1 18 377.376 - - 2 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 5 3 5 27 26 27 26 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727486740 13 24692445 T TA 300 PASS - - - - - Ins - I 24692445 24692448 1 12 267.834 - - 2 1 1 - - ./. 0 0 0 0 9 24 9 24 0 0 ./. 2 3 3 3 29 46 30 46 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727489108 13 30711551 CCGG CT 629 PASS - - - - - Complex - DI 30711552 30711554 3 42 0 - - 0 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 6 0 0 23 29 23 29 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727491964 13 40041217 GATTCCA G 290 PASS LHFP CCDS9369.1 r.? - - Del intronic D 40041217 40041228 6 35 540.485 - - 1 1 1 LHFP|CCDS9369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHFP|CCDS9369.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 6 4 8 6 25 22 25 22 8 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727494148 13 47415405 ACT A 300 PASS HTR2A CCDS9405.1 r.? - - Del intronic D 47415405 47415421 2 6 262.416 - - 7 1 1 HTR2A|CCDS9405.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HTR2A|CCDS9405.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 0 5 4 6 22 26 22 26 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727494560 13 48734079 GA G 660 PASS - - - - - Del - D 48734079 48734085 1 40 590.44 - - 5 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 7 4 10 6 29 21 29 21 10 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727496070 13 54573455 TA T 420 PASS - - - - - Del - D 54573455 54573460 1 14 379.183 - - 4 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 6 2 7 30 40 30 40 2 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727499721 13 65242420 GCAGAAAGC G 290 PASS - - - - - Del - D 65242420 65242433 8 35 539.281 - - 1 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 4 6 4 8 37 28 37 28 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727501885 13 72218028 C CA 480 PASS DACH1 ENST00000305425 r.? - - Ins intronic I 72218028 72218034 1 24 420.106 - - 5 1 1 DACH1|ENST00000305425|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DACH1|ENST00000305425|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 3 7 6 39 29 39 29 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727501903 13 72299800 TATCTA TAA 358 PASS DACH1 ENST00000305425 r.? - - Complex intronic DI 72299801 72299805 5 20 0 - - 0 1 1 DACH1|ENST00000305425|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 DACH1|ENST00000305425|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 4 3 0 0 24 28 24 28 4 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727502082 13 72892881 GGTCCTGTCTTTAAGCTACAAATTAAGATATCAATTCCTGCCAGGACTCGGGTCACAGAGAGAAAAACTATCTAGACTGACTAATGAGCCTCAATTTACCTTTCTGTTGACTCTTTATTTTGGCAATTGTCTCCACTTTGAATTTCACAAGATTGTTCTTTACTTCATCGA G 261 PASS - - - - - Del - D 72892881 72893055 170 28 485.112 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 6 0 0 28 26 31 32 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727504150 13 79034922 AG A 300 PASS - - - - - Del - D 79034922 79034924 1 12 270.845 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 5 3 39 29 39 29 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727504177 13 79189381 AACAATGTATATCCAACCGAGAT A 290 PASS RNF219 CCDS31997.1 r.2552_2573del22 c.? p.? Del 3'UTR variant D 79189381 79189407 22 35 541.689 - - 1 1 1 RNF219|CCDS31997.1|r.2552_2573del22|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 RNF219|CCDS31997.1|r.2552_2573del22|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 16 10 16 10 0 0 ./. 6 4 6 4 35 30 35 30 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727506760 13 87786231 AG A 1140 PASS - - - - - Del - D 87786231 87786233 1 98 1028.61 - - 1 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 13 6 15 8 38 34 38 34 15 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727507013 13 88640414 C CT 269 PASS - - - - - Ins - I 88640414 88640422 1 10 266.63 - - 7 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 1 4 0 1 29 36 29 37 1 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727507177 13 89076780 TC T 840 PASS - - - - - Del - D 89076780 89076782 1 60 758.365 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 9 5 13 5 45 26 45 26 13 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727508352 13 92405885 AATAAAACAGAAACGTCTTATGAT AATAAGACTGATG 551 PASS GPC5 CCDS9468.1 r.? - - Complex intronic DI 92405886 92405908 23 108 0 - - 0 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 8 11 0 0 44 44 45 45 8 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727508526 13 92931866 TA T 600 PASS GPC5 CCDS9468.1 r.? - - Del intronic D 92931866 92931868 1 35 541.087 - - 1 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 4 6 6 8 24 35 24 35 6 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727509333 13 95173222 TAA T 540 PASS - - - - - Del - D 95173222 95173226 2 30 487.521 - - 3 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 5 4 8 5 43 25 43 25 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727509393 13 95332955 AGTTG A 1527 PASS - - - - - Del - D 95332955 95332962 4 198 1457.74 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 17 10 19 12 63 41 63 41 19 12 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727510143 13 97097487 TGAA T 1049 PASS HS6ST3 CCDS9481.1 r.? - - Del intronic D 97097487 97097497 3 96 973.837 - - 3 1 1 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS6ST3|CCDS9481.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 7 11 11 15 37 45 37 45 11 15 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727510630 13 98790800 GTTGACACGACT G 377 PASS FARP1 CCDS9487.1 r.? - - Del upstream D 98790800 98790816 11 44 702.992 - - 1 1 1 FARP1|CCDS9487.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 FARP1|CCDS9487.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 10 3 11 32 49 32 50 3 12 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727510948 13 99582606 AG A 637 PASS DOCK9 CCDS45062.1 r.? - - Del intronic D 99582606 99582608 1 30 588.032 - - 1 1 1 DOCK9|CCDS45062.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK9|CCDS45062.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 9 3 11 20 33 20 33 3 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727512312 13 103132434 GT G 420 PASS - - - - - Del - D 103132434 103132440 1 18 379.183 - - 5 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 2 10 3 45 20 45 20 10 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727512332 13 103195616 TA T 300 PASS - - - - - Del - D 103195616 103195621 1 12 270.845 - - 4 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 2 3 4 4 24 33 24 33 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727512876 13 104864508 CTGTAGAAAAGGAAGATTAGAAAGACTCAGTGATGCTTGGGGTTGGGACTGAGGACAGGTGGGAGGGAAGGAAGATTTGGGATGAGTTGCATTGGGAACAGAGACTAGGGAGGGACCGATGTGTAAAAGAATGCCTGGACATCAAGCACCTCAGACGGTTTGCCCATTTTACGACAAGAATTATTTAGATCTTGTAGGATGGAAAAATCAAAAGTGCTGTTTTCTGGCTATTTGGAACCACTGTTGAGTTTGTATTGGGGTCAAGCGGCATTGTAGAAGAAAATAAGGAGTTTAGGTTTTAGGTCAGGTGTGAGTTGAAGAGGTTTTATGTTCTTGAGAGCACAGGCTAAGGGAGAAGGAGGAATGGGGGGTGGAAGGTTGCCCATAGTGAAGGAGGCAAGTTTAAAGAGAAGGGTAGAGACACGGAGGGAGGGGGTTTGGGGGTTCTTACCCTCCAGAAAATCGGGAAAGGGGTCAGGGCGTGGAAATAAGGGGTTGGGGCACAGAGATAAGAGGTCGGGGCATGGAAATAAGGGATTGGAGTGCAGAGATAAGAGGTTGGGGTGTGGAAATAAGGGATCGGGGTGCAGAGATAAGAGGTTGGGGCACAGAAATAAGGGATCAGGGTGCAGAGATAAGAGGTCGAGGCACAGAAATAAGGGATTGGGGGATTCTTGACAACTAGAAAAGCAGTACTTGCTGCTAAGGGTGAAGGAGAAGGGTTGGGGGGGTCTTGCCCCCCAGAAAAGCAGAGAAGGGGTAGAGACACAGAAGGAGTTGGGGGGTTCTTGCCCCCCAGAAAACCAGTACTTGCTGCTAAGGGTGAATGACCAAGGCAGGTGTCCCCACGTGGTGAGATACCTCTGAAACGTGGGTGAATGATCAGAAAGGCATCCCTGCAATGATTAAATGCCAAGGGAAGGCTGCCTTCCTGAGTCCATGACCAGCGCCGGAGTTTTGGGCCCACGGATGAAACGTGTCTCCTTCGTCTCTATGAGAAAATGAATTGAAATTAAAAGAAGGGAGATATTGAAGGGTGGCACCAAGATTGAAAGGAGAAAGTGGATGAGGGATAGTGAGAGAGGTTGGAGAAGAGAGTAAGAAGAGGCTGCTTACCCGATGTAAAATTGGTGAGATGTTCCTTGGGCTGGTGGGTCTGAGGACCTGAGGTGGTAGGTGGATCTTTTTCATGGAGCAAAGAGCAGGAGGACAGGGGATTGATCTCCCAAGGGAGGTCCCCTGATCTGAGTCACAGCACCAAATTTCACTCGCGTCCCTGTGAAGAGACCACCAAACAGGCTTTGTGTGAGCAATAAAGCTTTTAATCACCTGGGTGCAGGTAGGCCGAGTCCGAAAAGAGAGTGAAGGGAGATATGGGTGGGGCCATTTTATAGGATTTGGGTAGGTAAAGGAAAATTACAGTCAAAGGGGTGTTGTTCTCTGGCGGGAA CTCTGATCT 255 PASS - - - - - Complex - DI 104864509 104865957 1449 24 0 - - 0 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 7 2 0 0 15 13 22 15 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727513607 13 107019963 G GT 420 PASS - - - - - Ins - I 107019963 107019971 1 20 374.366 - - 7 1 1 - - ./. 0 0 0 0 20 12 20 12 0 0 ./. 3 4 4 4 35 46 35 47 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727513917 13 107882416 TG T 600 PASS FAM155A CCDS32006.1 r.? - - Del intronic D 107882416 107882420 1 32 541.689 - - 3 1 1 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 7 3 9 4 35 35 35 35 9 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727515551 13 112860242 CA C 600 PASS AL162499.2 ENST00000507553 r.? - - Del downstream D 112860242 112860247 1 35 540.485 - - 4 1 1 AL162499.2|ENST00000507553|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 AL162499.2|ENST00000507553|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 16 18 16 18 0 0 ./. 4 6 6 7 38 46 38 46 6 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727518794 14 26128744 TGTAAAAACCA T 464 PASS - - - - - Del - D 26128744 26128756 10 80 866.761 - - 1 1 1 - - ./. 0 0 0 0 12 22 12 22 0 0 ./. 7 9 7 9 32 42 32 42 7 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727518883 14 26471979 G GGA 538 PASS - - - - - Ins - I 26471979 26471993 2 35 517.417 - - 6 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 6 4 7 5 46 27 46 27 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727518981 14 26801926 T TA 300 PASS - - - - - Ins - I 26801926 26801936 1 10 265.03 - - 9 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 1 4 1 5 22 34 22 34 1 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727523605 14 39759228 C CT 540 PASS CTAGE5 CCDS9674.1 r.? - - Ins intronic I 39759228 39759234 1 30 481.871 - - 5 1 1 CTAGE5|CCDS9674.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTAGE5|CCDS9674.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 4 7 5 39 45 39 45 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727523616 14 39770635 ATAACAAGAATGAGATGCTAACCTCAAGCTCTGCT AATCC 406 PASS CTAGE5 CCDS9674.1 r.? - - Complex intronic DI 39770636 39770669 34 39 0 - - 0 1 1 CTAGE5|CCDS9674.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 CTAGE5|CCDS9674.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 12 2 0 0 37 19 38 21 12 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727524071 14 41177688 T TA 420 PASS - - - - - Ins - I 41177688 41177696 1 20 375.257 - - 7 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 4 3 6 6 34 45 34 45 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727524403 14 41835611 AT A 360 PASS - - - - - Del - D 41835611 41835617 1 12 325.261 - - 5 1 1 - - ./. 0 0 0 0 20 5 20 5 0 0 ./. 5 1 6 1 42 20 42 20 6 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727525554 14 45129211 CAATGAATATGGTTACCCA C 290 PASS - - - - - Del - D 45129211 45129234 18 36 542.102 - - 1 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 5 5 5 5 35 36 35 36 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727525622 14 45332504 ATTGCAAATTGT A 551 PASS - - - - - Del - D 45332504 45332521 11 104 1028.79 - - 1 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 7 12 9 12 40 41 40 41 9 12 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727529727 14 56254684 GTTAATTAATTTTTTT G 290 PASS - - - - - Del - D 56254684 56254702 15 32 538.49 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 7 3 7 5 24 33 25 33 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727530511 14 58295113 AAATAATAAT A 348 PASS - - - - - Del - D 58295113 58295126 9 40 648.114 - - 4 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 9 3 12 5 35 30 35 30 12 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727530535 14 58348868 GCTCCGAT G 435 PASS - - - - - Del - D 58348868 58348879 7 72 810.745 - - 1 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 8 7 10 8 29 39 30 39 11 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727530963 14 59341697 A AT 300 PASS - - - - - Ins - I 59341697 59341706 1 10 266.837 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 1 6 5 52 60 53 61 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727531315 14 60390449 GAGATCA G 388 PASS - - - - - Del - D 60390449 60390459 6 60 758.943 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 9 5 10 5 31 51 32 51 11 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727531906 14 62049523 AC A 600 PASS - - - - - Del - D 62049523 62049525 1 35 534.877 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 6 9 10 51 51 51 51 9 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727532271 14 62970701 AT A 360 PASS - - - - - Del - D 62970701 62970707 1 12 325.261 - - 5 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 1 7 2 35 32 35 32 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727537262 14 79535581 ATTGGCTTCCTATCTCCTATTCT A 261 PASS NRXN3 CCDS9870.1 r.? - - Del intronic D 79535581 79535605 22 28 486.086 - - 1 1 1 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 19 9 19 0 0 ./. 6 3 5 3 29 27 30 27 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727537309 14 79697489 ATGCCATCGGGCTGTCT A 348 PASS NRXN3 CCDS9870.1 r.? - - Del intronic D 79697489 79697508 16 48 650.522 - - 1 1 1 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 7 5 6 29 30 29 31 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727537861 14 81937496 C CA 300 PASS SEL1L CCDS9876.1 r.? - - Ins downstream I 81937496 81937498 1 12 265.632 - - 1 1 1 SEL1L|CCDS9876.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 SEL1L|CCDS9876.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 12 19 12 19 0 0 ./. 2 3 2 3 23 29 23 30 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727537962 14 82297861 GTT G 540 PASS - - - - - Del - D 82297861 82297871 2 30 485.484 - - 9 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 4 6 5 41 27 41 27 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727538277 14 83484930 AT A 420 PASS - - - - - Del - D 83484930 83484935 1 20 379.471 - - 4 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 4 4 4 30 34 30 34 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727538310 14 83579110 C CT 420 PASS - - - - - Ins - I 83579110 83579118 1 14 374.655 - - 7 1 1 - - ./. 0 0 0 0 10 21 10 23 0 0 ./. 6 1 7 4 30 31 30 31 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727538444 14 84118299 TG T 300 PASS - - - - - Del - D 84118299 84118304 1 6 268.643 - - 4 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 0 7 9 32 24 32 24 7 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727539404 14 87004407 AG A 420 PASS - - - - - Del - D 87004407 87004409 1 20 377.063 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 3 4 5 6 27 21 27 21 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727539479 14 87288436 T TA 420 PASS - - - - - Ins - I 87288436 87288444 1 20 375.257 - - 7 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 3 4 3 7 17 31 17 31 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727539704 14 88314352 GA G 360 PASS - - - - - Del - D 88314352 88314361 1 16 325.261 - - 8 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 3 5 5 29 20 29 20 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727542678 14 98202872 TC T 780 PASS - - - - - Del - D 98202872 98202875 1 56 704.733 - - 2 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 7 6 11 21 31 21 31 6 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727548021 15 25528087 C CT 900 PASS SNORD109A ENST00000458961 r.? - - Ins downstream I 25528087 25528088 1 72 804.484 - - 0 1 1 SNORD109A|ENST00000458961|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 SNORD109A|ENST00000458961|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 ./. 0 0 0 0 13 26 14 26 0 0 ./. 8 7 9 7 27 26 27 27 9 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727550831 15 35150905 C CTA 592 PASS AQR CCDS42013.1 r.? - - Ins intronic I 35150905 35150910 2 39 741.821 - - 2 1 1 AQR|CCDS42013.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AQR|CCDS42013.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 12 2 13 20 39 20 41 2 13 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727551178 15 36316113 TC T 420 PASS - - - - - Del - D 36316113 36316115 1 14 379.64 - - 1 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 1 6 5 6 23 23 23 23 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727551888 15 38682599 CAG C 300 PASS - - - - - Del - D 38682599 38682615 2 12 269.967 - - 7 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 2 3 1 3 22 21 22 21 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727552624 15 40947067 TAAAAAAATTTTTAAA T 290 PASS CASC5 CCDS42023.1 r.? - - Del intronic D 40947067 40947085 15 36 538.731 - - 1 1 1 CASC5|CCDS42023.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CASC5|CCDS42023.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 19 7 19 0 0 ./. 5 5 5 5 25 28 25 28 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727554424 15 47320269 A AT 480 PASS - - - - - Ins - I 47320269 47320271 1 24 429.058 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 5 9 7 33 24 34 24 9 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727554838 15 48842673 CT C 269 PASS FBN1 CCDS32232.1 r.? - - Del intronic D 48842673 48842677 1 12 269.967 - - 3 1 1 FBN1|CCDS32232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBN1|CCDS32232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 23 13 23 0 0 ./. 2 3 3 3 23 20 23 20 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727556104 15 53269500 C CT 509 PASS - - - - - Ins - I 53269500 53269507 1 24 479.68 - - 6 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 7 2 8 2 42 31 43 31 8 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727557931 15 58412838 CT C 380 PASS - - - - - Del - D 58412838 58412842 1 30 488.109 - - 3 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 4 5 7 7 26 31 26 31 7 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727559402 15 62771684 A AT 360 PASS - - - - - Ins - I 62771684 62771694 1 15 316.375 - - 9 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 4 2 7 6 34 44 34 44 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727560190 15 64914590 AGATTGGTAG A 290 PASS ZNF609 CCDS32270.1 r.? - - Del intronic D 64914590 64914602 9 35 542.343 - - 1 1 1 ZNF609|CCDS32270.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF609|CCDS32270.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 4 7 5 27 23 27 23 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727562438 15 71407131 CAAG C 300 PASS THSD4 CCDS10238.2 r.? - - Del intronic D 71407131 71407137 3 12 271.172 - - 1 1 1 THSD4|CCDS10238.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 THSD4|CCDS10238.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 3 3 31 16 31 16 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727562473 15 71531158 ATTGCTAGGTCTTGTGGTAACACT AAAG 348 PASS THSD4 CCDS10238.2 r.? - - Complex intronic DI 71531159 71531181 23 48 0 - - 0 1 1 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 7 0 0 33 28 35 31 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727564160 15 76986140 A AT 480 PASS SCAPER ENST00000303521 r.? - - Ins intronic I 76986140 76986143 1 21 429.058 - - 2 1 1 SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 6 3 6 34 26 35 26 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727565433 15 80645183 A AG 360 PASS - - - - - Ins - I 80645183 80645184 1 12 319.385 - - 0 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 1 5 2 5 34 29 34 30 2 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727568980 15 91673734 TGA T 300 PASS SV2B CCDS10370.1 r.? - - Del intronic D 91673734 91673751 2 12 269.967 - - 8 1 1 SV2B|CCDS10370.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SV2B|CCDS10370.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 3 2 4 2 37 49 37 49 4 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727569331 15 92821677 AGGCG A 461 PASS AC116903.2 ENST00000502597 r.? - - Del intronic D 92821677 92821687 4 35 539.333 - - 2 1 1 AC116903.2|ENST00000502597|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC116903.2|ENST00000502597|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 6 4 6 29 42 29 42 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727569372 15 92979452 TATTTTAGAGGGGGTCACC T 290 PASS ST8SIA2 CCDS10372.1 r.? - - Del intronic D 92979452 92979474 18 35 535.721 - - 1 1 1 ST8SIA2|CCDS10372.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST8SIA2|CCDS10372.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 6 2 5 38 29 40 29 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727569399 15 93097266 C CAAT 600 PASS - - - - - Ins - I 93097266 93097274 3 32 523.077 - - 2 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 7 3 9 4 54 48 55 48 9 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727569743 15 93723302 TGCCGAGAGCTGGGGCTGCTGCTTCTGAGCTGAAAGGGAAAGAAGGGTACATCTTTCAGAGCCACTCAGTCCCCCAATCATAGTGCCTGGCTGCGACCTCCCACTGGGCCCATCACAAGTCCTCATGGTTGGGGACGTCAGTGACCTGCAACAGGGTCAGGGAAGAACATCCTGGCCAGGAGTGAGCTAAGGAAGAGATGCACCACAGA T 261 PASS - - - - - Del - D 93723302 93723514 208 24 488.109 - - 1 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 2 7 0 0 32 27 34 38 2 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727570033 15 94290964 GA G 1200 PASS - - - - - Del - D 94290964 94290972 1 117 1082.88 - - 7 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 12 8 17 11 62 39 62 39 17 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727570089 15 94408456 AT A 1020 PASS - - - - - Del - D 94408456 94408462 1 84 921.983 - - 5 1 1 - - ./. 0 0 0 0 9 22 9 22 0 0 ./. 6 11 8 14 41 64 41 64 8 14 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727570278 15 94876104 T TTA 300 PASS MCTP2 CCDS32338.1 r.? - - Ins intronic I 94876104 94876118 2 12 265.151 - - 6 1 1 MCTP2|CCDS32338.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MCTP2|CCDS32338.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 5 2 52 61 52 61 5 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727571099 15 96981693 GC G 300 PASS - - - - - Del - D 96981693 96981695 1 10 271.172 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 1 4 1 4 38 48 38 48 1 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727571179 15 97237540 GT G 360 PASS - - - - - Del - D 97237540 97237543 1 15 324.804 - - 2 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 2 4 3 5 42 54 42 54 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727571269 15 97472358 TA T 300 PASS - - - - - Del - D 97472358 97472363 1 12 271.172 - - 4 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 3 2 4 3 34 35 34 35 4 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727571359 15 97712530 CAGGCAGGCTCTGATAAACTTGTGACTCAA C 290 PASS - - - - - Del - D 97712530 97712565 29 35 541.139 - - 1 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 4 6 4 5 33 31 33 32 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727571360 15 97712845 CATT C 656 PASS - - - - - Del - D 97712845 97712849 3 56 702.036 - - 1 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 7 6 9 6 51 35 51 35 9 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727571464 15 98001791 T TA 540 PASS - - - - - Ins - I 98001791 98001800 1 30 482.69 - - 8 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 4 5 6 9 41 43 41 43 6 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727571578 15 98390159 G GA 480 PASS AC027708.1 ENST00000503768 r.? - - Ins intronic I 98390159 98390163 1 9 426.65 - - 3 1 1 AC027708.1|ENST00000503768|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC027708.1|ENST00000503768|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 8 0 9 6 50 47 51 47 9 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727572741 15 101289153 T TA 360 PASS - - - - - Ins - I 101289153 101289161 1 12 319.385 - - 7 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 1 5 2 11 40 46 41 47 2 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727573137 15 102326299 CT C 456 PASS - - - - - Del - D 102326299 102326306 1 25 432.67 - - 6 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 4 7 6 46 49 46 49 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727573322 16 325567 AT A 900 PASS RGS11 CCDS42088.1 r.? - - Del intronic D 325567 325569 1 72 809.896 - - 1 1 1 RGS11|CCDS42088.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS11|CCDS42088.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 8 7 11 11 37 35 37 35 11 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727574737 16 4536232 CAGAAACCC CATTA 317 PASS HMOX2 CCDS10517.1 r.? - - Complex intronic DI 4536233 4536240 8 49 0 - - 0 1 1 HMOX2|CCDS10517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 HMOX2|CCDS10517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 6 0 0 45 47 45 47 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727577571 16 11109465 AAAATTGTCCTGC A 290 PASS CLEC16A CCDS45409.1 r.? - - Del intronic D 11109465 11109483 12 35 533.509 - - 1 1 1 CLEC16A|CCDS45409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLEC16A|CCDS45409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 16 22 16 0 0 ./. 4 6 4 7 31 34 31 35 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727578659 16 13409156 TAGAGTAATTGTG T 319 PASS - - - - - Del - D 13409156 13409172 12 42 596.131 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 5 6 5 55 33 55 33 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727579427 16 15646874 A AT 360 PASS C16orf45 CCDS10561.1 r.? - - Ins intronic I 15646874 15646883 1 15 316.734 - - 8 1 1 C16orf45|CCDS10561.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C16orf45|CCDS10561.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 2 6 3 42 31 43 31 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727580152 16 17683550 AG A 329 PASS - - - - - Del - D 17683550 17683559 1 15 325.163 - - 8 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 4 2 7 2 26 18 26 18 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727580667 16 19188596 GGCCATTATGAATGGCACCACCTAGGGTTGTGCAGTCTACAGACTGAACA G 522 PASS SYT17 CCDS10575.1 r.? - - Del intronic D 19188596 19188648 49 99 965.253 - - 1 1 1 SYT17|CCDS10575.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYT17|CCDS10575.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 8 10 4 3 28 16 32 23 8 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727582216 16 23563303 GCATTTTTTCAGGTGTCATCTGCCACCCCGGGCAGGGCAGTACAAATGTAGCCACTTCTCCAGGAACTCCCCATTTTCCACTCAGAACTCCATGAGAAGACCCACAGGCTCCTTTTCCTGCTTCCTGTTCCTTCCCTGCAGAAAGATCCTTTCTCTGCCAGGCTTACCTGCCCACTCCAGCATGTCCT G 435 PASS EARS2 CCDS42132.1 r.307_327+166del187 c.275_295+166del187 p.? Del ess splice D 23563303 23563493 187 70 809.896 - - 1 1 1 EARS2|CCDS42132.1|r.307_327+166del187|c.275_295+166del187|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 EARS2|CCDS42132.1|r.307_327+166del187|c.275_295+166del187|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 11 11 11 11 0 0 ./. 9 6 0 0 20 15 29 21 9 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727582217 16 23565911 GGCCGACCCT G 261 PASS UBFD1 CCDS10613.2 r.? - - Del upstream D 23565911 23565923 9 24 487.744 - - 1 1 1 UBFD1|CCDS10613.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 EARS2|CCDS42132.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 7 2 7 2 36 24 36 24 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727582322 16 23868315 CT C 420 PASS PRKCB CCDS10619.1 r.? - - Del intronic D 23868315 23868325 1 20 379.356 - - 9 1 1 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCB|CCDS10619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 4 4 5 24 23 24 23 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727583728 16 27821797 T TA 300 PASS GSG1L CCDS45450.1 r.? - - Ins intronic I 27821797 27821804 1 12 267.958 - - 6 1 1 GSG1L|CCDS45450.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GSG1L|CCDS45450.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 3 2 7 3 31 32 31 32 7 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727586992 16 34658427 TCTATAAAAGTTGATCTCACAGAAGTAG T 261 PASS - - - - - Del - D 34658427 34658455 27 30 485.336 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 4 3 4 27 27 29 27 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727589588 16 53627438 CGTTTT C 298 PASS - - - - - Del - D 53627438 53627449 5 16 325.163 - - 2 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 3 4 3 22 38 22 38 4 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727591561 16 59532098 GCAG GC 747 PASS - - - - - Complex - DI 59532099 59532101 3 63 0 - - 0 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 8 0 0 35 29 35 29 6 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727591826 16 60275680 AG A 360 PASS - - - - - Del - D 60275680 60275682 1 12 325.163 - - 1 1 1 - - ./. 0 0 0 0 4 10 4 10 0 0 ./. 1 5 1 6 5 34 5 34 1 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727592099 16 61101020 ATCTC A 329 PASS - - - - - Del - D 61101020 61101028 4 15 325.163 - - 3 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 2 5 5 35 28 35 28 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727592901 16 63656720 TC T 569 PASS - - - - - Del - D 63656720 63656722 1 35 541.336 - - 1 1 1 - - ./. 0 0 0 0 17 23 17 23 0 0 ./. 4 6 4 8 19 36 19 36 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727593519 16 65891131 ATT A 360 PASS - - - - - Del - D 65891131 65891135 2 12 325.163 - - 3 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 1 5 1 6 25 35 25 35 1 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727596163 16 73838253 ACCAATAAGATCCCTACAGATGGCAAG A 348 PASS - - - - - Del - D 73838253 73838283 26 48 650.325 - - 1 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 7 4 6 41 27 42 28 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727598164 16 78959159 TCATTGCTGCCACTGGGTGG T 319 PASS WWOX CCDS42196.1 r.? - - Del intronic D 78959159 78959181 19 40 593.723 - - 1 1 1 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 14 22 14 0 0 ./. 7 4 6 3 35 26 36 27 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727598346 16 79494287 CT C 360 PASS - - - - - Del - D 79494287 79494292 1 12 325.163 - - 4 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 5 1 6 5 26 35 26 35 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727599144 16 82040398 C CA 300 PASS SDR42E1 CCDS42205.1 r.? - - Ins intronic I 82040398 82040407 1 10 267.958 - - 8 1 1 SDR42E1|CCDS42205.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SDR42E1|CCDS42205.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 19 21 19 0 0 ./. 4 1 6 2 33 29 33 31 6 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727601764 17 675567 T TA 540 PASS GLOD4 CCDS32520.1 r.? - - Ins intronic I 675567 675575 1 30 482.01 - - 7 1 1 GLOD4|CCDS32520.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GLOD4|CCDS32520.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 4 5 4 8 29 22 29 22 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727603997 17 6172715 TA T 689 PASS - - - - - Del - D 6172715 6172717 1 48 649.905 - - 1 1 1 - - ./. 0 0 0 0 21 11 21 11 0 0 ./. 7 5 7 5 28 31 28 31 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727604615 17 7861430 C CT 660 PASS - - - - - Ins - I 7861430 7861439 1 36 589.124 - - 8 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 8 3 11 4 35 15 35 16 11 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727605745 17 10980427 G GA 780 PASS - - - - - Ins - I 10980427 10980436 1 56 696.237 - - 8 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 7 6 9 6 42 27 42 28 9 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727610371 17 25770974 GT G 540 PASS - - - - - Del - D 25770974 25770978 1 18 482.612 - - 3 1 - - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 1 8 3 10 34 47 34 47 3 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727610819 17 27418294 GC G 480 PASS MYO18A CCDS45642.1 r.? - - Del intronic D 27418294 27418300 1 24 431.464 - - 5 1 1 MYO18A|CCDS45642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO18A|CCDS45642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 3 5 6 7 34 27 34 27 6 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727612370 17 31518373 ATGGGGAACCT A 261 PASS ACCN1 CCDS11276.1 r.? - - Del intronic D 31518373 31518385 10 28 487.429 - - 1 1 1 ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 6 3 6 3 30 36 30 36 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727612579 17 32282653 CTTCTTCTCAGTGGTCTGAAGCCAGCCCCACGGGACCCCTCCTATGTTGAGCTCAGAGACACCAGCACTAGCCAATCAGCATCTCCCTCTCAGAGGTCTGAGCTCCAGCCCAACAGGGCCCCTCCTCCAACGTCCTGCATTTTAATAATCCCAACTGCTTATGTTTTTTCCTCCAGCCCAAGGGACAGTGGATGCTTTCTGTAGTAGCTACTACTTCTGTAAAACCTTAGTGTCCTCTTTTACTTTTTCAGATACCTGGTTAATGAATTTACACCTAGTTAAAATTTTTGTATTATGTTCTCTCCATTCAAATGCCTGGGATAGTTCCTATCTCTTGAGTGGCCATTGACTGATAGACAAGCTGAGGGCCCATCATTAGACTATTATAATTAATATAATATAATGAGTGATGGACTCATGAAACAAGGTAGAGACAAGTCAGAGGTAGAGTGCCTGACACATAGTAGGGCTCAAGAAATAGCTAATGAATTGAAAAAAATGAATCACTGAATAAAGGAAAGTCTTAGTGTTGAAGGAATGCTTGGGCAGTGATCCAAGCAGGAGAGTCAATAGGAGCGGGAGCGCTGGGAAAGCGCTCTTGAAGAAGAGTTTCCACCATTCAGAGAATGAGGGTTCAAAGTCTGAAGTGGGTTGTATCTCAAGAATTGACCTGA C 319 PASS ACCN1 CCDS42296.1 r.? - - Del intronic D 32282653 32283327 673 42 593.94 - - 1 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 6 5 0 0 31 12 37 17 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727613271 17 34441688 CGA C 745 PASS - - - - - Del - D 34441688 34441691 2 70 787.095 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 9 6 9 7 28 24 28 24 9 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727615287 17 39641454 CAG C 269 PASS KRT35 CCDS11394.2 r.? - - Del upstream D 39641454 39641474 2 12 267.784 - - 9 1 - KRT35|CCDS11394.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KRT35|CCDS11394.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 19 13 19 13 0 0 ./. 3 2 4 4 23 34 23 34 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727618124 17 46497722 AGAACTGTCA AATAAC 377 PASS SKAP1 CCDS32674.1 r.? - - Complex intronic DI 46497723 46497731 9 44 0 - - 0 1 1 SKAP1|CCDS32674.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 SKAP1|CCDS32674.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 10 3 0 0 53 31 53 31 10 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727619184 17 48837704 A AG 600 PASS LUC7L3 CCDS2573.1 r.? - - Ins downstream I 48837704 48837708 1 11 530.751 - - 3 1 1 LUC7L3|CCDS2573.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 LUC7L3|CCDS2573.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 7 12 8 0 0 ./. 0 10 1 2 38 40 38 40 1 12 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727620217 17 51044242 AT A 480 PASS - - - - - Del - D 51044242 51044250 1 25 433.27 - - 7 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 4 6 10 37 50 37 50 6 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727620549 17 51989641 CACTGGAACATCCTAGAGAGACAAAGCAGAGTGAGCCAGTGGGTGGAGTGCTGAATAAACAAAAGCTTTAGAGGTAATGCTGAAGCAAGGTCATGCAGGTTTAGTAGATCATGCCAAGGTTTGGTATCATATCCTAAGTGAAATGTGGGGGATTGCAAGCTGAACTATAGAATCAGGCTTGCATTTTAAAGATTGATCTGGATACTAATTAAAGGATAGAGAGTAGGAGGCAAGAATGGA CAAGAATGGAG 261 PASS - - - - - Complex - DI 51989642 51989880 239 30 0 - - 0 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 5 4 0 0 44 32 49 36 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727623483 17 58813186 C CT 1320 PASS BCAS3 CCDS45749.1 r.? - - Ins intronic I 58813186 58813195 1 144 1177.65 - - 8 1 1 BCAS3|CCDS45749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BCAS3|CCDS45749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 14 23 14 0 0 ./. 11 11 12 14 55 58 57 59 12 14 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727624177 17 60222030 CAG C 600 PASS - - - - - Del - D 60222030 60222033 2 35 539.782 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 6 6 8 41 51 41 51 6 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727625969 17 64135154 ACTCTAACAAC A 261 PASS CCDC46 CCDS32710.1 r.? - - Del intronic D 64135154 64135167 10 30 487.429 - - 1 1 1 CCDC46|CCDS32710.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC46|CCDS32710.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 5 8 6 57 37 57 37 8 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727627821 17 67656979 T TA 360 PASS - - - - - Ins - I 67656979 67656981 1 7 321.34 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 0 6 7 6 51 50 53 51 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727628187 17 68596334 TCTC T 689 PASS - - - - - Del - D 68596334 68596340 3 45 649.905 - - 1 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 8 4 11 7 49 37 49 37 11 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727628513 17 69374222 TTC T 329 PASS - - - - - Del - D 69374222 69374241 2 15 321.34 - - 9 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 2 5 3 60 54 60 54 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727628676 17 69921088 CG C 480 PASS - - - - - Del - D 69921088 69921094 1 21 432.668 - - 5 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 6 2 7 2 40 30 40 30 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727628915 17 70603608 AACAACTCTTTAATT A 609 PASS AC006948.1 ENST00000499674 r.? - - Del intronic D 70603608 70603625 14 120 1137.33 - - 1 1 1 AC006948.1|ENST00000499674|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC006948.1|ENST00000499674|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 7 14 11 14 45 61 45 61 11 14 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727632793 17 80254688 TATTCTG T 319 PASS AC132872.4 ENST00000499745 r.? - - Del upstream D 80254688 80254698 6 40 593.94 - - 1 1 1 AC132872.4|ENST00000499745|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 AC132872.4|ENST00000499745|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 10 13 10 13 0 0 ./. 7 4 8 5 39 33 39 33 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727634895 18 4070530 G GGT 329 PASS - - - - - Ins - I 4070530 4070531 2 12 318.141 - - 0 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 1 5 0 0 7 23 7 24 1 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727636038 18 8017007 TTA T 480 PASS PTPRM CCDS11840.1 r.? - - Del intronic D 8017007 8017014 2 25 433.821 - - 3 1 1 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 4 6 6 26 28 26 28 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727636555 18 9598343 GAAACATGAAGA G 290 PASS PPP4R1 CCDS42412.1 r.? - - Del intronic D 9598343 9598358 11 35 542.276 - - 1 1 1 PPP4R1|CCDS42412.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP4R1|CCDS42412.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 4 6 4 8 34 42 34 42 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727636740 18 10156143 ATAGTGTTGGCATC A 261 PASS - - - - - Del - D 10156143 10156158 13 28 488.049 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 6 3 7 36 38 36 38 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727637904 18 13599192 G GT 300 PASS C18orf1 CCDS32793.1 r.? - - Ins intronic I 13599192 13599200 1 12 267.526 - - 7 1 1 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C18orf1|CCDS32793.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 2 8 2 29 18 30 18 8 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727639990 18 21760023 TC T 540 PASS OSBPL1A CCDS11884.1 r.? - - Del intronic D 21760023 21760025 1 24 488.049 - - 1 1 1 OSBPL1A|CCDS11884.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OSBPL1A|CCDS11884.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 7 2 9 2 33 31 33 31 9 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727640630 18 23950021 GAGAACA G 261 PASS TAF4B CCDS42421.1 r.? - - Del intronic D 23950021 23950030 6 30 488.049 - - 1 1 1 TAF4B|CCDS42421.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TAF4B|CCDS42421.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 5 3 5 34 32 35 32 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727640631 18 23950732 A ATAGAGATAG 319 PASS TAF4B CCDS42421.1 r.? - - Ins intronic I 23950732 23950741 9 42 533.288 - - 0 1 1 TAF4B|CCDS42421.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TAF4B|CCDS42421.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 6 5 5 5 36 25 37 25 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727641441 18 26906154 G GA 300 PASS - - - - - Ins - I 26906154 26906164 1 10 267.526 - - 9 1 1 - - ./. 0 0 0 0 9 21 9 21 0 0 ./. 4 1 4 1 35 42 35 42 4 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727643931 18 35771376 GTATA G 716 PASS - - - - - Del - D 35771376 35771383 4 63 757.381 - - 3 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 8 6 9 6 36 23 36 23 9 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727644397 18 37348322 G GA 360 PASS AC105201.1 ENST00000510201 r.? - - Ins intronic I 37348322 37348332 1 15 321.754 - - 9 1 1 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 4 3 5 35 27 35 27 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727645395 18 40458503 C CA 300 PASS RIT2 CCDS11921.1 r.? - - Ins intronic I 40458503 40458507 1 10 268.128 - - 3 1 1 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 4 7 4 0 0 ./. 4 1 5 1 30 13 31 13 5 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727646415 18 44153089 GGAAAT G 480 PASS LOXHD1 ENST00000398722 r.? - - Del intronic D 44153089 44153097 5 25 433.821 - - 1 1 1 LOXHD1|ENST00000398722|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LOXHD1|ENST00000398722|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 4 4 4 4 34 21 34 21 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727649326 18 53038148 GT G 480 PASS TCF4 CCDS42438.1 r.? - - Del intronic D 53038148 53038154 1 24 429.607 - - 5 1 1 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 5 3 6 4 38 57 38 57 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727651253 18 58178124 ATATTGATATCTC A 319 PASS - - - - - Del - D 58178124 58178141 12 42 594.096 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 6 5 6 24 33 24 33 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727651322 18 58342809 CA C 360 PASS - - - - - Del - D 58342809 58342812 1 7 325.366 - - 2 1 1 - - ./. 0 0 0 0 3 20 3 20 0 0 ./. 0 6 0 6 9 25 9 25 0 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727651670 18 59500437 AAGATAGATTTCTCACAAACCATT A 348 PASS RNF152 CCDS11978.1 r.? - - Del intronic D 59500437 59500463 23 45 649.528 - - 1 1 1 RNF152|CCDS11978.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RNF152|CCDS11978.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 16 29 16 0 0 ./. 8 4 7 3 38 29 39 30 8 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727651677 18 59512057 TA T 329 PASS RNF152 CCDS11978.1 r.? - - Del intronic D 59512057 59512062 1 16 322.356 - - 4 1 1 RNF152|CCDS11978.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RNF152|CCDS11978.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 3 5 8 26 50 26 50 5 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727652234 18 61087284 AC A 360 PASS VPS4B CCDS11983.1 r.? - - Del intronic D 61087284 61087286 1 15 325.366 - - 1 1 1 VPS4B|CCDS11983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS4B|CCDS11983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 11 21 11 0 0 ./. 2 4 3 5 28 36 28 36 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727652977 18 63151498 GAATGATATACTGGGTAGATTTCAGATACCATTATATTCTTTTGAAGTGTACTGATTTGATTAATTGATTGATTTTTTAAGTTTTAATAGGGAGTCACTTTAGCTGAACTCAAACTTCAGTCTCAGTCTCTTCTGTGGTGGGAAGCAGGTAAAACTTCTGTTTACATATTTTGTTCTTAGTTTGGCTCCTTAGATTCTACTATACACCTGAAT G 406 PASS - - - - - Del - D 63151498 63151715 212 63 759.187 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 8 6 0 0 27 19 35 25 8 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727654652 18 67369556 GT G 720 PASS DOK6 CCDS32841.1 r.? - - Del intronic D 67369556 67369562 1 48 650.732 - - 5 1 1 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 6 20 6 0 0 ./. 7 5 9 8 24 15 24 15 9 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727654976 18 68228103 T TA 480 PASS AC013558.1 ENST00000511515 r.? - - Ins intronic I 68228103 68228109 1 24 425.392 - - 5 1 1 AC013558.1|ENST00000511515|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC013558.1|ENST00000511515|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 21 22 21 0 0 ./. 5 3 6 6 34 42 35 42 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727655902 18 70575446 AG A 480 PASS - - - - - Del - D 70575446 70575448 1 9 433.219 - - 1 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 0 8 1 9 38 39 38 39 1 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727656146 18 71307603 T TA 420 PASS - - - - - Ins - I 71307603 71307610 1 14 371.767 - - 6 1 1 - - ./. 0 0 0 0 11 12 12 12 0 0 ./. 6 1 7 3 39 23 40 23 7 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727656754 18 73149167 TA T 360 PASS - - - - - Del - D 73149167 73149177 1 16 325.366 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 3 3 4 36 23 36 23 3 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727657679 18 75682812 AACA AAC 1076 PASS AC134978.1 ENST00000505670 r.? - - Complex downstream DI 75682813 75682815 3 117 0 - - 0 1 1 AC134978.1|ENST00000505670|r.?|-|-|non_protein_coding:indel:500B_downstream_variant|SO:0000011:SO:1000032:SO:0001634 AC134978.1|ENST00000505670|r.?|-|-|non_protein_coding:indel:500B_downstream_variant|SO:0000011:SO:1000032:SO:0001634 ./. 0 0 0 0 17 11 17 11 0 0 ./. 12 8 0 0 38 30 38 30 12 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727657963 18 76626944 AGCAGGCAGAGAAAGCC A 320 PASS - - - - - Del - D 76626944 76626963 16 49 645.915 - - 1 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 6 6 5 4 18 32 18 34 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727660047 19 4247047 AGT A 480 PASS CCDC94 CCDS12124.1 r.? - - Del upstream D 4247047 4247051 2 25 425.725 - - 1 1 1 CCDC94|CCDS12124.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CCDC94|CCDS12124.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 4 6 4 26 26 26 26 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727663744 19 13261240 CA C 300 PASS IER2 CCDS12295.1 r.? - - Del upstream D 13261240 13261242 1 12 270.142 - - 1 1 1 IER2|CCDS12295.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 IER2|CCDS12295.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 2 4 4 27 19 27 19 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727668232 19 23791350 TC T 660 PASS - - - - - Del - D 23791350 23791352 1 36 596.962 - - 1 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 3 8 4 10 28 42 28 42 4 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727669982 19 31444376 AACTGTAATTAAATGTATATTAGACTTCTG A 290 PASS - - - - - Del - D 31444376 31444412 29 36 542.693 - - 1 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 5 5 3 2 23 32 24 34 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727670048 19 31747477 ACAGAGTATGTT A 290 PASS - - - - - Del - D 31747477 31747491 11 36 537.876 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 5 6 5 27 45 27 45 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727671201 19 34757275 G GT 600 PASS KIAA0355 CCDS12436.1 r.? - - Ins intronic I 34757275 34757284 1 36 536.672 - - 8 1 1 KIAA0355|CCDS12436.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KIAA0355|CCDS12436.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 16 21 16 0 0 ./. 5 5 6 6 39 38 40 38 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727674193 19 42602728 A AAAGTC 298 PASS POU2F2 CCDS33035.1 r.? - - Ins intronic I 42602728 42602735 5 15 306.35 - - 1 1 1 POU2F2|CCDS33035.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 POU2F2|CCDS33035.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 2 4 2 34 25 34 25 4 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727674194 19 42603169 GA G 329 PASS POU2F2 CCDS33035.1 r.? - - Del intronic D 42603169 42603173 1 15 325.616 - - 3 1 1 POU2F2|CCDS33035.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POU2F2|CCDS33035.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 4 2 4 31 24 31 24 2 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727674733 19 44602331 CTCATGTGCATTCATAACTGTATTTGTATTGGTGATGTTAATCTAATTTAAATTG CTGTGA 348 PASS ZNF224 CCDS33046.1 r.? - - Complex intronic DI 44602332 44602385 54 45 0 - - 0 1 1 ZNF224|CCDS33046.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ZNF224|CCDS33046.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 4 8 0 0 34 25 37 31 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727680147 19 57292284 AG A 420 PASS PEG3AS CCDS33123.1 r.? - - Del intronic D 57292284 57292287 1 20 379.885 - - 2 1 1 PEG3AS|CCDS33123.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PEG3AS|CCDS33123.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 3 9 4 47 21 47 21 9 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727683269 2 8005249 AG A 300 PASS - - - - - Del - D 8005249 8005251 1 6 253.898 - - 1 1 - - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 0 9 0 26 15 26 15 9 0 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727685070 2 12948893 GT G 300 PASS - - - - - Del - D 12948893 12948895 1 12 268.95 - - 1 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 3 2 3 2 28 25 28 25 3 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727685927 2 15709168 AAAGTTCTGCCCTAACCTGGGC A 290 PASS - - - - - Del - D 15709168 15709192 21 36 537.9 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 5 5 5 32 26 32 26 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727688453 2 24718982 TTTC T 300 PASS NCOA1 CCDS1713.1 r.? - - Del intronic D 24718982 24718991 3 12 268.95 - - 2 1 1 NCOA1|CCDS1713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NCOA1|CCDS1713.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 3 3 4 18 37 18 37 3 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727689058 2 26410911 GCTGAC G 269 PASS HADHA CCDS1721.1 r.? - - Del downstream D 26410911 26410920 5 10 262.929 - - 1 1 1 HADHA|CCDS1721.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FAM59B|ENST00000380681|r.2750_2754delCUGAC|c.2750_2754delCTGAC|p.D918fs*33|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 10 19 10 19 0 0 ./. 1 4 1 5 25 29 25 29 1 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727690117 2 29334614 CTATGG C 360 PASS CLIP4 CCDS1770.1 r.? - - Del upstream D 29334614 29334623 5 15 322.138 - - 1 1 1 CLIP4|CCDS1770.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CLIP4|ENST00000401605|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 16 6 16 0 0 ./. 2 4 3 5 15 36 15 36 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727690265 2 29776303 AG A 480 PASS ALK CCDS33172.1 r.? - - Del intronic D 29776303 29776305 1 24 430.32 - - 1 1 1 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 3 10 4 35 36 35 36 10 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727690840 2 32010500 TGCA T 478 PASS - - - - - Del - D 32010500 32010506 3 24 484.11 - - 1 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 7 2 9 3 43 28 43 28 9 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727694512 2 42272158 GT G 420 PASS PKDCC CCDS33186.2 r.? - - Del upstream D 42272158 42272163 1 18 376.53 - - 4 1 1 PKDCC|CCDS33186.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PKDCC|CCDS33186.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 2 6 3 36 22 36 22 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727694686 2 42816059 ATCC A 360 PASS MTA3 CCDS46267.1 r.? - - Del intronic D 42816059 42816063 3 15 322.74 - - 1 1 1 MTA3|CCDS46267.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTA3|CCDS46267.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 4 15 4 0 0 ./. 4 2 6 3 37 17 37 17 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727697404 2 51941919 TTG T 269 PASS - - - - - Del - D 51941919 51941923 2 10 266.542 - - 1 1 1 - - ./. 0 0 0 0 4 10 4 10 0 0 ./. 1 4 0 4 16 32 16 32 1 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727698465 2 55114694 AT A 480 PASS EML6 CCDS46286.1 r.? - - Del intronic D 55114694 55114700 1 21 429.115 - - 5 1 1 EML6|CCDS46286.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EML6|CCDS46286.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 10 16 0 0 ./. 2 6 4 8 29 35 36 35 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727700705 2 63227954 GGT G 300 PASS EHBP1 CCDS1872.1 r.? - - Del intronic D 63227954 63227971 2 12 266.542 - - 8 1 1 EHBP1|CCDS1872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EHBP1|CCDS1872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 2 3 2 38 29 38 29 3 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727701599 2 66064378 TG T 298 PASS - - - - - Del - D 66064378 66064382 1 15 322.74 - - 3 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 2 4 2 6 37 39 37 39 2 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727702805 2 69987787 ATTATG A 329 PASS ANXA4 CCDS1894.1 r.? - - Del intronic D 69987787 69987795 5 12 321.536 - - 1 1 1 ANXA4|CCDS1894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ANXA4|CCDS1894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 1 5 1 7 20 36 20 36 1 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727702883 2 70199047 TC T 420 PASS - - - - - Del - D 70199047 70199049 1 20 375.928 - - 1 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 4 3 5 4 28 35 28 35 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727703002 2 70566968 C CT 356 PASS - - - - - Ins - I 70566968 70566974 1 24 423.095 - - 5 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 3 6 3 39 30 40 31 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727703004 2 70567303 TTCAATAC T 290 PASS - - - - - Del - D 70567303 70567314 7 35 537.9 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 6 5 7 26 43 26 43 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727703005 2 70567531 AG A 480 PASS - - - - - Del - D 70567531 70567534 1 24 430.32 - - 2 1 1 - - ./. 0 0 0 0 20 3 20 3 0 0 ./. 5 3 5 3 36 29 36 29 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727705349 2 79287484 ATTC A 627 PASS - - - - - Del - D 79287484 79287490 3 33 644.275 - - 1 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 2 10 2 12 21 46 21 46 2 12 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727705639 2 80238769 TC T 360 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 80238769 80238771 1 16 317.321 - - 1 1 - CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 3 3 4 4 28 40 28 40 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727705675 2 80426213 GGAG GTA 689 PASS CTNNA2 CCDS42703.2 r.? - - Complex intronic DI 80426214 80426216 3 49 0 - - 0 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 6 0 0 27 32 27 32 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727705728 2 80765836 CT C 562 PASS CTNNA2 CCDS42703.2 r.? - - Del intronic D 80765836 80765843 1 35 537.9 - - 6 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 4 6 5 9 32 43 32 43 5 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727705834 2 81110491 TA T 360 PASS - - - - - Del - D 81110491 81110495 1 15 322.74 - - 3 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 4 2 5 13 25 13 25 2 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727706502 2 84207245 CA C 294 PASS - - - - - Del - D 84207245 84207251 1 36 537.9 - - 5 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 5 5 7 7 28 29 28 29 7 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727706567 2 84546595 GA G 660 PASS - - - - - Del - D 84546595 84546605 1 30 589.281 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 9 2 9 3 37 26 37 26 9 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727706657 2 84902712 TC T 869 PASS DNAH6 CCDS46348.1 r.? - - Del intronic D 84902712 84902718 1 52 803.839 - - 5 1 1 DNAH6|CCDS46348.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH6|CCDS46348.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 20 9 20 0 0 ./. 3 12 6 15 19 37 19 37 6 15 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727707857 2 88837900 ACTTTGGC AAG 261 PASS - - - - - Complex - DI 88837901 88837907 7 30 0 - - 0 1 1 - - ./. 0 0 0 0 14 5 14 5 0 0 ./. 5 4 0 0 27 22 27 22 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727710242 2 98648603 TAGTTCTCTAGGTATTCCTTAATCCATCTAGGTTGACACCTAAAATTCACCATCACATGCAAAGTATC T 290 PASS - - - - - Del - D 98648603 98648676 67 35 537.9 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 6 0 0 29 31 33 37 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727711413 2 102650177 GC G 449 PASS - - - - - Del - D 102650177 102650181 1 24 429.115 - - 3 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 3 5 7 8 35 24 35 24 7 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727711877 2 104588586 TG T 300 PASS - - - - - Del - D 104588586 104588588 1 12 267.746 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 2 3 6 4 25 24 25 24 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727713742 2 111600229 AC A 660 PASS ACOXL CCDS42730.1 r.? - - Del intronic D 111600229 111600231 1 42 588.077 - - 1 1 1 ACOXL|CCDS42730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACOXL|CCDS42730.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 6 5 6 6 28 32 28 32 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727713945 2 112454826 G GA 420 PASS - - - - - Ins - I 112454826 112454835 1 20 370.509 - - 8 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 3 5 4 28 21 28 21 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727714940 2 115564033 G GA 420 PASS DPP10 CCDS46400.1 r.? - - Ins intronic I 115564033 115564039 1 20 372.315 - - 5 1 1 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 17 15 0 0 ./. 4 3 6 4 38 39 38 39 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727714999 2 115773096 AG A 720 PASS DPP10 CCDS46400.1 r.? - - Del intronic D 115773096 115773098 1 40 638.857 - - 1 1 1 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP10|CCDS46400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 9 5 10 33 43 33 43 5 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727715450 2 117139130 GA G 600 PASS - - - - - Del - D 117139130 117139132 1 32 537.9 - - 1 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 7 5 8 28 24 28 24 5 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727715477 2 117184941 AT A 360 PASS - - - - - Del - D 117184941 117184949 1 15 310.699 - - 7 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 2 6 3 22 25 22 25 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727715491 2 117205639 CAG C 420 PASS - - - - - Del - D 117205639 117205645 2 8 376.53 - - 2 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 7 0 9 1 29 26 29 26 9 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727715683 2 117754587 ACTTT A 478 PASS - - - - - Del - D 117754587 117754596 4 18 484.11 - - 2 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 1 8 4 8 27 26 27 26 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727715759 2 118009657 TCTCATGAAAAAATTAGCAATAAA T 319 PASS - - - - - Del - D 118009657 118009682 23 42 591.689 - - 1 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 5 6 5 6 28 36 28 36 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727716063 2 118940909 AGG A 300 PASS - - - - - Del - D 118940909 118940913 2 12 268.95 - - 3 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 3 2 3 3 27 29 27 29 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727716782 2 121441504 AG A 420 PASS - - - - - Del - D 121441504 121441508 1 14 368.101 - - 3 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 6 5 8 28 26 28 26 5 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727717102 2 122844019 TTTGGGTAGATACCCAG T 261 PASS - - - - - Del - D 122844019 122844037 16 28 483.508 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 6 3 6 3 43 26 43 26 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727717467 2 123955896 TAGTAC T 358 PASS - - - - - Del - D 123955896 123955904 5 14 376.53 - - 1 1 1 - - ./. 0 0 0 0 15 3 15 3 0 0 ./. 6 1 6 2 38 18 38 18 6 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727717469 2 123956261 GT G 360 PASS - - - - - Del - D 123956261 123956268 1 15 322.138 - - 6 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 4 3 8 29 34 29 34 3 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727719574 2 130685187 G GA 253 PASS - - - - - Ins - I 130685187 130685197 1 16 319.127 - - 9 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 3 3 4 5 24 40 24 40 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727722792 2 139453586 A AAAAT 540 PASS NXPH2 CCDS46421.1 r.? - - Ins intronic I 139453586 139453610 4 30 462.435 - - 5 1 - NXPH2|CCDS46421.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NXPH2|CCDS46421.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 5 4 6 37 42 37 42 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727723447 2 141252747 CAT C 420 PASS LRP1B CCDS2182.1 r.? - - Del intronic D 141252747 141252754 2 18 376.53 - - 3 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 2 10 3 30 29 30 29 10 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727724304 2 143606562 CA C 300 PASS - - - - - Del - D 143606562 143606571 1 6 268.95 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 0 5 1 5 24 20 24 20 1 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727724360 2 143807010 G GA 600 PASS - - - - - Ins - I 143807010 143807020 1 35 531.277 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 12 0 0 ./. 6 4 7 5 33 35 34 36 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727726074 2 149971784 TAGATA T 414 PASS LYPD6B CCDS46423.1 r.? - - Del intronic D 149971784 149971792 5 36 536.695 - - 1 1 1 LYPD6B|CCDS46423.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LYPD6B|CCDS46423.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 5 5 7 5 33 30 33 30 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727727072 2 153058331 C CT 480 PASS - - - - - Ins - I 153058331 153058340 1 24 424.901 - - 8 1 1 - - ./. 0 0 0 0 19 17 20 17 0 0 ./. 3 5 4 8 38 55 38 56 5 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727727417 2 153874774 GCTTGAGGCTTGCACCCTCTGATGCCGTAGCCTGAGCTCTACATTGGTCCCTTTCAGCCACAGCTGGAGTGGCTGGGATGCAGGGCACCAAGTCCCTAGGCTGCACATAGCACAAGGCCCGTGGCCCAGCCTACAAAACCACTTTTTCCTCCTAGACCTCTGGTCCTGTGATGGGAGGGGCTGCTGCAAAGGTTTCTGATATGCCCTGGAGACCTTTTCCCCATTGTCTTGATGGTTAACATTCAGCTCCTTATTACTTGTGCAAATTTCTGCAGCCAGCTTGAATTTCTCCTCAAAAAAATGGGATTTTCTTTTCTATTGCATTATCAGGCTGCAGATTTTCCAAACTTTTATTCTCTGTTTCACTTTTGAAACTGAATGCCTATAACAGTACCCAAGTCACCTCTTGAATGCTTTGCTTCTTATAAATTTCTCCCACCAGACACCTTAAATCGTCTCTCTCAAGTTCAAAGTTCCACAAATCTCTAGGGTGGGGTAAAATGCCACCAGTGTCTTTGCTAAAATGTAACAAGAGTCACCTTTGCTCCAGTTCCCAACAAGTTTCTCATCTCCATCGGAGACCATCTCAGTCTGGACCTTATTGTTCTTATCACTATCAGCATTTTTTCAAAGCCATTCAACAAGTCTCTAGGAAGTTCCAAA G 319 PASS - - - - - Del - D 153874774 153875440 662 30 591.689 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 9 2 0 0 37 26 46 28 9 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727727499 2 154172657 CA C 600 PASS - - - - - Del - D 154172657 154172666 1 32 532.481 - - 8 1 - - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 7 3 11 4 49 32 49 32 11 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727727584 2 154449706 TCTCG T 358 PASS - - - - - Del - D 154449706 154449714 4 20 374.121 - - 1 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 3 4 4 4 20 28 20 28 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727727639 2 154650618 GA G 300 PASS - - - - - Del - D 154650618 154650626 1 12 268.348 - - 7 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 3 5 4 28 33 28 33 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727728167 2 156291541 AG A 360 PASS - - - - - Del - D 156291541 156291543 1 12 322.74 - - 1 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 1 5 2 7 22 25 22 25 2 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727730005 2 161851116 TTTCAG TGA 584 PASS - - - - - Complex - DI 161851117 161851121 5 100 0 - - 0 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 9 9 0 0 41 45 41 45 9 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727731503 2 167096617 TTTGGGACATTAAGCAACTTTTAAAACTGTACCCAGCTTCATCATTGGTAAAATAAGCAAAATATCATAATCTCACAGGGTTGTTTGAAAATTAAATGAGAAAATCTAAAAGAAGATTCTGAAACACAATAAGTATAAGCTAAATGAGAGCTATTACTTCTTTTTAACTTTTATTTTAGGTTTGAGGGTACATGTGAAGGTTTGTTACATAGGTAAACACGTGTCATGGGGGTTTGCTATACTTTTAAAAAATCTAGTTTAATTGGCAACCTGTCTAAGTACAAACACCAGCTTCTTGAAATATCTTTCCCTTTTCTTCCTCATATGATTTATTTAAAATACACTTTTGAGAATGCCCTCCCCAAATGTCTTCCTCTGTTTTAGACATTTTGAACAAGGAATTACTCCAAACTTTAATTTTTTTGTAATCTCCTCTCTGAAATTCTCAGTCACATATGTGAGTCAGCATGGGATAAACCTCCTTAGTTACTAGGAATACATTGCATGGTAGACACTATCATGATTTCTACTTGGATGACTCCAGGTAAGGAAAATAGAGCTTTTCTGATCACATTTTCTGTTTCTGAGAGTTGAGACTTGATAGGAAAGGAAAGCCACAGTGGGTCCCTGCAGGTTGTTGGGGAGTGTGCCAAGAATGCCAGGCTCTGCCTGCTCCTTACCTAGGACATTCCTCAGGGTTGTGTTTGCAGTGAGCAACCTTGAGACATGAGGTAGGGTCTCTGGGACAAAGAGCAGGGTTGCTTATGTTGCTTGGTATAAAAGGATGCATTCCCTAAGCTCAGTGTTCCTCAGCTGTGACATCAATCCACTATATGTGTACACACTCATTCAGGCTCATATAATGCCCCCATGAGACCTGGGTAAAGGGGGAACCAACAGAAACATGTTGAAACTCATGCTACTTTCCACACATAAGTAACAAAGTCCTTTATCTCTGACCCAAGCACCTCATATCTTCTGCCAGCATCCATGAAACAGTATCAGATCAACCTATTAGCA T 261 PASS SCN9A CCDS46441.1 r.? - - Del intronic D 167096617 167097638 1019 30 484.11 - - 1 1 1 SCN9A|CCDS46441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCN9A|CCDS46441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 4 0 0 31 36 36 40 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727731756 2 167776240 TA T 300 PASS XIRP2 CCDS42769.1 r.? - - Del intronic D 167776240 167776246 1 10 268.95 - - 5 1 1 XIRP2|CCDS42769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XIRP2|CCDS42769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 4 6 10 43 40 43 40 6 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727731757 2 167776297 ATTTTC A 329 PASS XIRP2 CCDS42769.1 r.? - - Del intronic D 167776297 167776306 5 15 322.74 - - 1 1 1 XIRP2|CCDS42769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XIRP2|CCDS42769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 4 4 10 41 30 41 30 4 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727732103 2 168999334 GA G 600 PASS STK39 CCDS42770.1 r.? - - Del intronic D 168999334 168999338 1 35 537.9 - - 3 1 1 STK39|CCDS42770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK39|CCDS42770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 6 4 7 4 32 34 32 34 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727732177 2 169158549 CCT C 300 PASS - - - - - Del - D 169158549 169158568 2 12 268.95 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 3 2 3 46 29 46 29 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727733933 2 173519490 T TA 300 PASS - - - - - Ins - I 173519490 173519499 1 12 264.735 - - 8 1 1 - - ./. 0 0 0 0 16 9 16 10 0 0 ./. 2 3 2 3 24 31 24 31 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727734320 2 174822196 GGCACTAATAAAA G 464 PASS SP3 CCDS2254.1 r.? - - Del intronic D 174822196 174822212 12 80 860.639 - - 1 1 1 SP3|CCDS2254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SP3|CCDS2254.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 9 7 9 7 41 40 41 40 9 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727737149 2 184407239 TG T 960 PASS - - - - - Del - D 184407239 184407243 1 65 860.639 - - 3 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 4 12 4 14 23 32 23 32 4 14 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727737356 2 185147228 AG A 660 PASS - - - - - Del - D 185147228 185147230 1 36 591.689 - - 1 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 3 8 4 11 32 32 32 32 4 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727737775 2 187252061 AT A 540 PASS - - - - - Del - D 187252061 187252068 1 30 482.905 - - 6 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 5 8 7 30 43 30 43 8 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727738543 2 189640743 ACCTAGAAAAGAGAATT A 261 PASS DIRC1 CCDS2296.1 r.? - - Del intronic D 189640743 189640760 16 28 484.11 - - 1 1 1 DIRC1|CCDS2296.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DIRC1|CCDS2296.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 6 3 6 30 36 30 36 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727739248 2 191967198 GT G 660 PASS STAT4 CCDS2310.1 r.? - - Del intronic D 191967198 191967204 1 42 591.689 - - 5 1 1 STAT4|CCDS2310.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STAT4|CCDS2310.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 6 5 6 7 42 37 42 37 6 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727739528 2 192890907 AGCCCAATAG A 261 PASS TMEFF2 CCDS2314.1 r.? - - Del intronic D 192890907 192890919 9 24 480.497 - - 1 1 1 TMEFF2|CCDS2314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEFF2|CCDS2314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 7 2 9 3 30 19 30 19 9 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727739626 2 193169051 TA T 780 PASS - - - - - Del - D 193169051 193169058 1 26 697.463 - - 6 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 12 1 13 2 44 25 44 25 13 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727740114 2 195056234 A ACTTAATCT 348 PASS - - - - - Ins - I 195056234 195056235 8 48 583.467 - - 0 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 7 6 8 27 31 27 31 6 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727740668 2 196933189 AGGCGGCTAGGTTT A 290 PASS DNAH7 CCDS42794.1 r.? - - Del intronic D 196933189 196933205 13 36 529.471 - - 1 1 1 DNAH7|CCDS42794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH7|ENST00000427816|r.10_22delAAACCUAGCCGCC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 7 12 7 12 0 0 ./. 5 5 5 5 20 34 20 34 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727741093 2 198271389 CAGTA C 269 PASS SF3B1 CCDS33356.1 r.? - - Del intronic D 198271389 198271397 4 10 267.144 - - 1 1 1 SF3B1|CCDS33356.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SF3B1|CCDS33356.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 1 4 4 4 19 26 19 26 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727744150 2 207696618 TAGAACACACCATTAAATAAATAGAGGTGA T 261 PASS - - - - - Del - D 207696618 207696649 29 30 484.11 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 5 4 5 23 35 23 35 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727744646 2 209016207 AACTCTCAACAG A 348 PASS - - - - - Del - D 209016207 209016222 11 48 645.479 - - 1 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 5 7 5 8 30 36 30 36 5 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727745597 2 212082381 TC T 300 PASS - - - - - Del - D 212082381 212082383 1 6 268.95 - - 1 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 0 5 4 5 32 41 32 41 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727745860 2 212899367 TG T 540 PASS ERBB4 CCDS2394.1 r.? - - Del intronic D 212899367 212899372 1 30 484.11 - - 4 1 1 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 23 20 23 0 0 ./. 5 4 11 6 34 45 34 45 11 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727746428 2 214758487 AG A 420 PASS SPAG16 CCDS2396.1 r.? - - Del intronic D 214758487 214758489 1 20 376.53 - - 1 1 1 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 5 17 5 0 0 ./. 4 3 6 6 32 35 32 35 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727748693 2 221550681 GCA G 300 PASS - - - - - Del - D 221550681 221550699 2 12 267.746 - - 8 1 - - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 2 3 3 25 31 25 31 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727749141 2 223088967 AATC AAC 480 PASS PAX3 CCDS42826.1 r.? - - Complex intronic DI 223088968 223088970 3 25 0 - - 0 1 1 PAX3|CCDS42826.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 PAX3|CCDS42826.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 4 0 0 28 31 28 31 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727750356 2 226223995 ATCAAT A 898 PASS - - - - - Del - D 226223995 226224004 5 72 860.037 - - 1 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 11 5 14 6 56 25 56 25 14 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727753561 2 235494161 CAACATT CATGT 656 PASS - - - - - Complex - DI 235494162 235494167 6 56 0 - - 0 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 7 6 0 0 35 41 35 41 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727754186 2 237520257 TTGAAG T 478 PASS - - - - - Del - D 237520257 237520267 5 28 484.11 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 6 4 7 25 28 25 28 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727755403 2 241901680 A AATT 298 PASS ENSG00000226321 ENST00000430980 r.? - - Ins intronic I 241901680 241901681 3 15 311.903 - - 0 1 1 ENSG00000226321|ENST00000430980|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000226321|ENST00000430980|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 2 4 3 4 27 16 27 16 3 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727757066 20 3442103 CTGACACTCT C 319 PASS - - - - - Del - D 3442103 3442114 9 42 597.312 - - 1 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 5 6 6 9 42 43 42 43 6 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727758911 20 7834015 GAGGTCTGTCTCC G 638 PASS - - - - - Del - D 7834015 7834032 12 143 1189.2 - - 1 1 1 - - ./. 0 0 0 0 2 18 2 18 0 0 ./. 10 12 9 13 33 35 33 35 10 13 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727759128 20 8479623 GT G 420 PASS PLCB1 CCDS13103.1 r.? - - Del intronic D 8479623 8479625 1 18 379.505 - - 1 1 1 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 2 5 3 7 36 28 39 28 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727759131 20 8488304 TACA T 418 PASS PLCB1 CCDS13103.1 r.? - - Del intronic D 8488304 8488312 3 25 433.806 - - 2 1 1 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 4 5 10 19 37 19 37 5 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727759210 20 8695603 A AC 300 PASS PLCB1 CCDS13103.1 r.? - - Ins intronic I 8695603 8695604 1 10 268.495 - - 0 1 1 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLCB1|CCDS13103.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 1 5 1 28 27 29 27 5 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727760009 20 11028110 GTTCTTGCTGTA G 841 PASS - - - - - Del - D 11028110 11028125 11 240 1574.73 - - 1 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 15 14 15 16 38 46 38 46 15 16 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727760060 20 11225831 T TA 420 PASS - - - - - Ins - I 11225831 11225840 1 14 370.474 - - 8 1 1 - - ./. 0 0 0 0 25 8 25 8 0 0 ./. 6 1 10 2 61 44 62 44 10 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727761408 20 14958847 AT A 1169 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 14958847 14958851 1 117 1084.22 - - 3 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 12 8 15 11 40 54 40 54 15 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727761555 20 15291858 G GA 360 PASS MACROD2 CCDS13120.2 r.? - - Ins intronic I 15291858 15291867 1 15 321.592 - - 8 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 23 20 23 0 0 ./. 4 2 6 4 54 49 54 49 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727763264 20 20613653 TTC T 360 PASS RALGAPA2 CCDS46584.1 r.? - - Del intronic D 20613653 20613671 2 16 324 - - 8 1 1 RALGAPA2|CCDS46584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RALGAPA2|CCDS46584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 3 3 3 3 26 41 26 41 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727763546 20 21934699 AT A 360 PASS - - - - - Del - D 21934699 21934704 1 15 324.602 - - 4 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 2 5 3 21 29 21 29 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727763590 20 22130704 TA T 480 PASS - - - - - Del - D 22130704 22130710 1 21 433.204 - - 5 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 2 6 4 35 33 35 33 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727763726 20 22815878 TCTAC T 360 PASS - - - - - Del - D 22815878 22815889 4 12 325.806 - - 2 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 1 7 2 20 13 20 13 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727766708 20 30360368 A AT 337 PASS TPX2 CCDS13190.1 r.? - - Ins intronic I 30360368 30360375 1 16 321.592 - - 6 1 1 TPX2|CCDS13190.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TPX2|CCDS13190.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 7 4 41 24 41 24 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727767079 20 31659081 TC T 300 PASS C20orf185 CCDS13212.1 r.1241delC c.1241delC p.F415fs*10 Del frameshift D 31659081 31659084 1 12 264.883 - - 2 1 1 C20orf185|CCDS13212.1|r.1241delC|c.1241delC|p.F415fs*10|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 C20orf185|CCDS13212.1|r.1241delC|c.1241delC|p.F415fs*10|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 3 5 6 16 21 16 21 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727768927 20 37510992 AT A 389 PASS PPP1R16B CCDS13309.1 r.? - - Del intronic D 37510992 37511002 1 20 360.841 - - 9 1 1 PPP1R16B|CCDS13309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R16B|CCDS13309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 3 4 4 9 28 27 28 27 4 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727768990 20 37723670 TTGGATTAGAGCCCACAGCAA T 290 PASS - - - - - Del - D 37723670 37723693 20 35 535.786 - - 1 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 4 6 4 7 26 45 26 45 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727770737 20 44009884 CT C 269 PASS TP53TG5 CCDS13352.1 r.? - - Del upstream D 44009884 44009892 1 6 264.883 - - 7 1 1 TP53TG5|CCDS13352.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TP53TG5|CCDS13352.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 14 8 14 0 0 ./. 0 5 1 6 35 57 35 57 1 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727770748 20 44034572 TGCCGGCGTCGGGGG T 290 PASS DBNDD2 CCDS42880.1 r.? - - Del upstream D 44034572 44034589 14 35 540 - - 1 1 1 DBNDD2|CCDS42880.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 DBNDD2|CCDS42880.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 6 5 7 34 29 34 29 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727771015 20 44823780 TCCAGGCCCACCCAACTGGGAA T 290 PASS CDH22 CCDS13395.1 r.? - - Del intronic D 44823780 44823805 21 27 542.409 - - 1 1 1 CDH22|CCDS13395.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH22|CCDS13395.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 2 8 2 7 26 43 26 44 2 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727773280 20 49813640 TC T 480 PASS - - - - - Del - D 49813640 49813642 1 25 433.806 - - 1 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 4 8 5 48 34 48 34 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727774349 20 52226972 G GA 420 PASS ZNF217 ENST00000431687 r.? - - Ins upstream I 52226972 52226979 1 20 375.893 - - 6 1 1 ZNF217|ENST00000431687|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ZNF217|ENST00000431687|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 9 18 9 18 0 0 ./. 4 3 5 3 22 41 22 42 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727774780 20 53036594 TGTCAGGTTCTTCCTAA T 261 PASS - - - - - Del - D 53036594 53036613 16 30 488.71 - - 1 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 4 5 4 6 43 56 43 56 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727775122 20 53990450 GT G 420 PASS - - - - - Del - D 53990450 53990455 1 20 380.107 - - 4 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 4 4 7 49 42 49 42 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727775399 20 54559620 TG T 840 PASS - - - - - Del - D 54559620 54559622 1 63 753.592 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 8 6 8 6 49 43 49 43 8 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727775594 20 55038475 C CT 600 PASS CASS4 CCDS33492.1 r.? - - Ins downstream I 55038475 55038483 1 27 536.99 - - 7 1 1 CASS4|CCDS33492.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CASS4|CCDS33492.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 8 7 11 55 65 55 66 7 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727776059 20 56046154 CCT C 300 PASS - - - - - Del - D 56046154 56046172 2 12 264.281 - - 8 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 3 2 3 42 56 42 56 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727776241 20 56740657 CCACTCCCAATGCCAGCCTCGT C 290 PASS C20orf85 CCDS13465.1 r.? - - Del downstream D 56740657 56740681 21 32 533.378 - - 1 1 1 C20orf85|CCDS13465.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C20orf85|CCDS13465.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 7 4 7 54 59 54 59 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727777112 20 59269452 AC A 300 PASS ENSG00000237240 ENST00000456299 r.? - - Del intronic D 59269452 59269456 1 12 271.505 - - 3 1 1 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 2 3 29 26 29 26 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727777113 20 59269613 AAAT A 418 PASS ENSG00000237240 ENST00000456299 r.? - - Del intronic D 59269613 59269619 3 21 434.408 - - 1 1 1 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 6 2 8 5 44 27 44 27 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727783000 21 16281426 ACTCAACGTATGTGTAGTTTGCACTCCACAATTACAGTGTGATGATATTGATGATATTTTGTCTTACTGTGTCCTTGTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGGGT A 278 PASS - - - - - Del - D 16281426 16281547 116 35 539.454 - - 1 1 - - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 6 4 0 0 20 25 26 29 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727783348 21 17506257 A AC 480 PASS - - - - - Ins - I 17506257 17506258 1 21 430.118 - - 0 1 1 - - ./. 0 0 0 0 12 11 13 11 0 0 ./. 2 6 4 6 34 30 34 30 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727786716 21 26328367 A AT 480 PASS - - - - - Ins - I 26328367 26328377 1 21 430.118 - - 9 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 6 2 6 3 29 28 30 28 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727788855 21 32051348 A AT 780 PASS - - - - - Ins - I 32051348 32051358 1 56 698.942 - - 9 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 7 6 7 8 34 36 34 36 7 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727790763 21 37427588 C CA 477 PASS SETD4 CCDS13640.1 r.? - - Ins intronic I 37427588 37427595 1 24 428.914 - - 6 1 1 SETD4|CCDS13640.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SETD4|CCDS13640.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 5 3 8 3 42 28 43 29 8 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727791191 21 38371253 TA T 300 PASS - - - - - Del - D 38371253 38371258 1 12 271.232 - - 4 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 3 4 7 26 28 26 28 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727792019 21 40440063 TG T 540 PASS - - - - - Del - D 40440063 40440066 1 30 489.301 - - 2 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 5 5 7 22 30 22 30 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727793455 21 44230482 TGGAAGC TTG 298 PASS - - - - - Complex - DI 44230483 44230488 6 15 0 - - 0 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 4 0 0 24 32 24 32 2 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727793958 21 45665443 TC T 360 PASS ICOSLG CCDS42952.1 r.? - - Del upstream D 45665443 45665448 1 16 326.201 - - 4 1 1 ICOSLG|CCDS42952.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ICOSLG|CCDS42952.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 3 5 5 36 17 36 17 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727793959 21 45665877 CACGGTGCAGGCGCTCCGAAG C 290 PASS DNMT3L CCDS13705.1 r.? - - Del downstream D 45665877 45665901 20 35 543.668 - - 1 1 1 DNMT3L|CCDS13705.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 DNMT3L|CCDS13705.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 6 4 6 30 19 30 20 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727794741 21 48096960 TCTCCACATCCTCTC TTTA 334 PASS - - - - - Complex - DI 48096961 48096974 14 48 0 - - 0 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 7 5 0 0 35 31 35 31 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727802014 22 35686482 C CA 374 PASS HMGXB4 CCDS33641.1 r.? - - Ins intronic I 35686482 35686489 1 20 376.169 - - 6 1 1 HMGXB4|CCDS33641.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HMGXB4|CCDS33641.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 12 12 0 0 ./. 4 3 7 4 30 26 30 26 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727803633 22 40269348 GT G 360 PASS ENTHD1 CCDS13998.1 r.? - - Del intronic D 40269348 40269350 1 16 327.591 - - 1 1 1 ENTHD1|CCDS13998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENTHD1|CCDS13998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 3 3 4 4 38 32 38 32 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727808011 3 1695013 TC T 540 PASS - - - - - Del - D 1695013 1695015 1 24 485.084 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 7 2 9 2 43 35 43 35 9 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727808335 3 2486488 AC A 449 PASS CNTN4 CCDS43041.1 r.? - - Del intronic D 2486488 2486490 1 24 431.186 - - 1 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 5 4 7 26 32 26 32 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727808745 3 3513433 TAAAA T 480 PASS - - - - - Del - D 3513433 3513442 4 24 431.186 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 3 7 5 45 37 45 37 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727809625 3 5725635 TTC T 300 PASS - - - - - Del - D 5725635 5725653 2 12 269.491 - - 8 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 2 3 2 24 55 24 55 3 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727810921 3 9425696 TA T 838 PASS THUMPD3 CCDS2573.1 r.? - - Del intronic D 9425696 9425705 1 72 807.269 - - 8 1 1 THUMPD3|CCDS2573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THUMPD3|CCDS2573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 7 8 8 8 56 32 56 32 8 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727811366 3 10432375 A AC 360 PASS ATP2B2 CCDS2601.1 r.? - - Ins intronic I 10432375 10432379 1 12 319.777 - - 3 1 1 ATP2B2|CCDS2601.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP2B2|CCDS2601.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 16 0 0 ./. 5 1 6 3 39 35 41 35 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727812032 3 12396269 AAG A 300 PASS PPARG CCDS2610.2 r.? - - Del intronic D 12396269 12396273 2 6 267.685 - - 1 1 - PPARG|CCDS2610.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PPARG|CCDS2610.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 4 10 4 0 0 ./. 5 0 3 0 42 14 42 14 5 0 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727813542 3 16619982 AG A 360 PASS - - - - - Del - D 16619982 16619984 1 7 323.389 - - 1 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 6 0 6 0 34 26 34 26 6 0 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727814619 3 20644578 AC A 360 PASS - - - - - Del - D 20644578 20644581 1 15 322.787 - - 2 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 4 2 4 4 17 28 17 28 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727814788 3 21097767 CCA C 720 PASS - - - - - Del - D 21097767 21097772 2 33 646.779 - - 2 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 10 2 11 2 42 26 42 26 11 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727815242 3 22330015 AT A 720 PASS - - - - - Del - D 22330015 22330021 1 49 646.779 - - 5 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 6 6 8 6 35 37 35 37 8 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727815689 3 23895969 ACTGT A 720 PASS UBE2E1 CCDS2638.1 r.? - - Del intronic D 23895969 23895979 4 48 646.779 - - 2 1 1 UBE2E1|CCDS2638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBE2E1|CCDS2638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 7 6 7 29 27 29 27 6 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727816628 3 27119493 ATTCTGTTC A 377 PASS - - - - - Del - D 27119493 27119504 8 54 700.677 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 8 6 9 34 31 34 31 6 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727816960 3 27994488 GGAGGGAACGCTGAAAAGATTT G 261 PASS - - - - - Del - D 27994488 27994512 21 30 483.88 - - 1 1 1 - - ./. 0 0 0 0 23 11 23 11 0 0 ./. 4 5 4 3 27 20 27 22 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727818250 3 32169546 TTTTCCACGATTTCTTTTGTA T 348 PASS GPD1L CCDS33729.1 r.249-21_249-2del20 c.48-21_48-2del20 p.? Del ess splice D 32169546 32169567 20 48 644.973 - - 1 1 1 GPD1L|CCDS33729.1|r.249-21_249-2del20|c.48-21_48-2del20|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:intron:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000188:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001627:SO:0001576 GPD1L|CCDS33729.1|r.249-21_249-2del20|c.48-21_48-2del20|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:intron:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000188:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001627:SO:0001576 ./. 0 0 0 0 20 9 20 9 0 0 ./. 7 5 8 4 42 41 42 42 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727818443 3 32621834 A AT 509 PASS - - - - - Ins - I 32621834 32621842 1 24 477.859 - - 7 1 1 - - ./. 0 0 0 0 15 12 16 12 0 0 ./. 7 2 9 5 50 35 50 36 9 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727819265 3 35351496 CAAAGGGGAGG C 319 PASS - - - - - Del - D 35351496 35351509 10 36 591.074 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 8 4 8 26 36 26 36 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727823940 3 53186357 CAACCGGCAAGGAAGCCA C 348 PASS PRKCD ENST00000478843 r.? - - Del upstream D 53186357 53186375 17 49 645.575 - - 1 1 1 PRKCD|ENST00000478843|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PRKCD|ENST00000478843|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 19 10 19 10 0 0 ./. 6 6 6 6 32 21 32 21 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727825846 3 59865644 CA C 360 PASS FHIT CCDS2894.1 r.? - - Del intronic D 59865644 59865646 1 7 309.542 - - 1 1 1 FHIT|CCDS2894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FHIT|CCDS2894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 8 4 8 0 0 ./. 0 6 0 8 10 17 10 17 0 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727827923 3 67044179 TG T 420 PASS KBTBD8 ENST00000417314 r.? - - Del upstream D 67044179 67044181 1 20 377.288 - - 1 1 1 KBTBD8|ENST00000417314|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KBTBD8|ENST00000417314|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 4 3 6 32 25 32 25 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727829888 3 73788904 T TG 480 PASS - - - - - Ins - I 73788904 73788906 1 24 426.369 - - 1 1 1 - - ./. 0 0 0 0 18 21 19 22 0 0 ./. 3 5 5 6 23 38 24 38 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727830190 3 75011402 C CA 389 PASS - - - - - Ins - I 75011402 75011409 1 18 365.246 - - 6 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 5 2 6 7 20 30 20 30 6 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727830381 3 75682123 ACACAAGGCAGTGCTAATGAGCAGG ACAAGGCCGTGCTAATGAGCAGG 291 PASS MIR1324 ENST00000408868 r.? - - Complex downstream DI 75682124 75682147 24 36 0 - - 0 1 1 MIR1324|ENST00000408868|r.?|-|-|non_protein_coding:indel:5KB_downstream_variant|SO:0000011:SO:1000032:SO:0001633 MIR1324|ENST00000408868|r.?|-|-|non_protein_coding:indel:5KB_downstream_variant|SO:0000011:SO:1000032:SO:0001633 ./. 0 0 0 0 21 27 21 27 0 0 ./. 8 3 0 0 83 47 83 47 8 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727831970 3 77595516 G GAGATC 627 PASS ROBO2 CCDS43109.1 r.1862_1863insagauc c.962_963insAGATC p.V325fs*9 Ins frameshift I 77595516 77595526 5 48 610.655 - - 1 1 1 ROBO2|CCDS43109.1|r.1862_1863insagauc|c.962_963insAGATC|p.V325fs*9|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ROBO2|CCDS43109.1|r.1862_1863insagauc|c.962_963insAGATC|p.V325fs*9|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 23 9 23 9 0 0 ./. 5 7 5 8 34 25 34 25 5 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727832140 3 78171764 G GT 420 PASS - - - - - Ins - I 78171764 78171774 1 14 370.063 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 1 6 3 36 30 38 30 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727832516 3 79368128 TTA T 480 PASS ROBO1 ENST00000464233 r.? - - Del intronic D 79368128 79368132 2 25 431.186 - - 1 1 1 ROBO1|ENST00000464233|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROBO1|ENST00000464233|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 4 6 6 27 42 27 42 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727832573 3 79752271 AATCTAAATAGTTGTGCCCTATTAGCATATGAAAATGTCTCAAAATTGATCATTTCTATGCTTTCTATCACTTTCATATGTCCTAACATATAACATATGAAAATGTCTTAAAATGTATTATTTCTATCATAATTAGTATCCATTTTTTAGAACAGAATACATCCTTCTTTTCATTTTAATTATAATTAATCTATTTAATTAAGAAGAACAATTTATACATCTTCCAAAATACAGCTTTTAGTCCAATGTGTATCTGATAAGCATTTTAAATAATCCTGAATCTCTTAATATAATGAAAATAATAACTATTTTTATTAATGCCTGGGGTATAAAAATTTAGTAATTATCTACATTTTGTTCCAAAG ATGACC 290 PASS ROBO1 ENST00000464233 r.? - - Complex intronic DI 79752272 79752635 364 35 0 - - 0 1 1 ROBO1|ENST00000464233|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ROBO1|ENST00000464233|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 8 20 8 20 0 0 ./. 4 6 0 0 19 23 23 29 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727832753 3 80330352 GT G 480 PASS - - - - - Del - D 80330352 80330355 1 24 431.186 - - 2 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 3 13 5 36 36 36 36 13 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727832754 3 80330390 C CT 300 PASS - - - - - Ins - I 80330390 80330394 1 12 266.481 - - 3 1 1 - - ./. 0 0 0 0 13 15 13 16 0 0 ./. 2 3 6 5 30 40 30 40 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727832858 3 80595529 TA T 869 PASS - - - - - Del - D 80595529 80595535 1 66 808.473 - - 5 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 10 5 11 31 41 31 41 5 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727833517 3 83111226 AG A 300 PASS - - - - - Del - D 83111226 83111228 1 12 269.491 - - 1 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 2 3 5 3 32 28 32 28 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727839330 3 105952158 TC T 540 PASS - - - - - Del - D 105952158 105952160 1 30 485.084 - - 1 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 4 5 5 7 32 29 32 29 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727840058 3 108249654 AATCAAAATGGACCT AGAATC 348 PASS MYH15 CCDS43127.1 r.? - - Complex upstream DI 108249655 108249668 14 48 0 - - 0 1 1 MYH15|CCDS43127.1|r.?|-|-|protein_coding:indel:2KB_upstream_variant|SO:0000010:SO:1000032:SO:0001636 MYH15|CCDS43127.1|r.?|-|-|protein_coding:indel:2KB_upstream_variant|SO:0000010:SO:1000032:SO:0001636 ./. 0 0 0 0 15 25 15 25 0 0 ./. 5 7 0 0 42 43 42 43 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727841405 3 112121921 ATTTTCAAAACAATAAGCCCTAATAAAACAGTATGAAGCCAACTAAATTTT A 319 PASS - - - - - Del - D 112121921 112121981 50 40 592.88 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 7 4 0 1 27 31 34 34 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727841713 3 113034546 CA C 540 PASS WDR52 ENST00000393845 r.? - - Del intronic D 113034546 113034548 1 18 485.084 - - 1 1 1 WDR52|ENST00000393845|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR52|ENST00000393845|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 8 1 9 3 42 35 42 35 9 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727841786 3 113297829 CATTTTCACCTAT C 261 PASS SIDT1 CCDS2974.1 r.? - - Del intronic D 113297829 113297847 12 30 485.084 - - 1 1 1 SIDT1|CCDS2974.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SIDT1|CCDS2974.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 5 4 5 5 29 23 29 23 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727843352 3 118390079 CA C 540 PASS - - - - - Del - D 118390079 118390083 1 10 483.278 - - 3 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 0 9 1 11 23 44 23 44 1 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727843387 3 118511564 CA C 420 PASS - - - - - Del - D 118511564 118511572 1 20 374.879 - - 7 1 1 - - ./. 0 0 0 0 6 17 6 17 0 0 ./. 4 3 6 5 29 37 29 37 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727847129 3 131261671 GT G 300 PASS CPNE4 CCDS3072.1 r.? - - Del intronic D 131261671 131261673 1 6 269.491 - - 1 1 1 CPNE4|CCDS3072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPNE4|CCDS3072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 5 0 5 0 46 34 46 34 5 0 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727848207 3 134730125 AT A 900 PASS EPHB1 CCDS46921.1 r.? - - Del intronic D 134730125 134730133 1 70 805.463 - - 7 1 1 EPHB1|CCDS46921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHB1|CCDS46921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 6 9 7 12 26 40 26 40 7 12 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727848832 3 136753982 CCT C 360 PASS - - - - - Del - D 136753982 136753990 2 15 323.389 - - 3 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 2 6 3 26 15 26 15 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727849719 3 140064540 GCCACTCAG GGAT 261 PASS CLSTN2 CCDS3112.1 r.? - - Complex intronic DI 140064541 140064548 8 30 0 - - 0 1 1 CLSTN2|CCDS3112.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 CLSTN2|CCDS3112.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 4 0 0 34 13 34 13 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727849824 3 140570502 A AT 300 PASS - - - - - Ins - I 140570502 140570503 1 12 266.481 - - 0 1 1 - - ./. 0 0 0 0 11 16 12 16 0 0 ./. 3 2 5 3 42 28 42 29 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727850699 3 143199011 T TA 300 PASS SLC9A9 CCDS33872.1 r.? - - Ins intronic I 143199011 143199018 1 10 264.073 - - 6 1 1 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC9A9|CCDS33872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 1 4 2 5 23 37 23 37 2 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727852726 3 150063159 CA C 720 PASS - - - - - Del - D 150063159 150063164 1 45 646.177 - - 4 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 8 4 10 4 41 27 41 27 10 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727852968 3 150631073 CTTG C 598 PASS - - - - - Del - D 150631073 150631082 3 40 592.278 - - 2 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 7 5 9 30 34 30 34 5 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727853123 3 151120394 TG T 540 PASS MED12L CCDS33876.1 r.? - - Del intronic D 151120394 151120400 1 24 483.88 - - 5 1 1 MED12L|CCDS33876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MED12L|CCDS33876.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 21 15 21 0 0 ./. 7 2 7 4 33 30 33 30 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727853304 3 151481704 CA C 360 PASS - - - - - Del - D 151481704 151481710 1 15 322.185 - - 5 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 2 4 3 5 28 25 28 25 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727854436 3 155182294 CTTTGAAA C 261 PASS PLCH1 ENST00000494598 r.? - - Del intronic D 155182294 155182305 7 30 485.084 - - 1 1 1 PLCH1|ENST00000494598|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCH1|ENST00000494598|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 4 8 5 28 28 28 28 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727854787 3 156333272 TTTATGACATGTGTCAGATAAA T 319 PASS - - - - - Del - D 156333272 156333297 21 42 592.88 - - 1 1 1 - - ./. 0 0 0 0 6 20 6 20 0 0 ./. 5 6 4 4 31 36 32 38 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727855050 3 157430090 GA G 840 PASS - - - - - Del - D 157430090 157430092 1 64 754.575 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 7 7 7 10 39 39 39 39 7 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727855761 3 159883361 CACATAAAG C 261 PASS - - - - - Del - D 159883361 159883373 8 18 484.482 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 8 1 9 1 36 22 36 22 9 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727856229 3 161743769 CT C 540 PASS - - - - - Del - D 161743769 161743773 1 28 485.084 - - 3 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 6 5 8 30 43 30 43 5 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727857941 3 167122084 AAACAAAAAAATAAGCG A 319 PASS - - - - - Del - D 167122084 167122103 16 30 592.88 - - 1 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 2 9 2 9 29 32 29 32 2 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727858001 3 167562823 CA C 480 PASS - - - - - Del - D 167562823 167562825 1 21 429.982 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 2 6 5 34 33 34 33 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727858774 3 170498717 TCTTTTA T 348 PASS CLDN11 ENST00000486975 r.? - - Del intronic D 170498717 170498727 6 48 646.779 - - 1 1 1 CLDN11|ENST00000486975|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 CLDN11|ENST00000486975|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 7 5 9 5 38 37 38 37 9 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727860413 3 175855872 CA C 360 PASS - - - - - Del - D 175855872 175855874 1 15 320.981 - - 1 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 4 2 6 4 32 36 32 36 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727863150 3 184685927 ATAGTGT A 261 PASS VPS8 CCDS46971.1 r.? - - Del intronic D 184685927 184685935 6 30 485.084 - - 1 1 1 VPS8|CCDS46971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS8|CCDS46971.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 4 5 5 5 36 25 36 25 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727863209 3 184818733 GA G 360 PASS C3orf70 CCDS33900.1 r.? - - Del intronic D 184818733 184818735 1 16 322.185 - - 1 1 1 C3orf70|CCDS33900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C3orf70|CCDS33900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 22 13 22 0 0 ./. 3 3 4 5 38 29 38 29 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727864193 3 187761690 CTTCTGAACACTGATTTAGGCATGATGGAT C 348 PASS - - - - - Del - D 187761690 187761723 29 40 646.779 - - 1 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 3 9 3 5 21 34 22 38 4 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727864549 3 188673374 TTGATATAACCTTTAAAG T 348 PASS TPRG1 CCDS3292.1 r.? - - Del intronic D 188673374 188673394 17 48 645.575 - - 1 1 1 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 7 5 7 5 40 29 40 29 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727864550 3 188673921 AAAAC A 327 PASS TPRG1 CCDS3292.1 r.? - - Del intronic D 188673921 188673931 4 20 376.083 - - 2 1 1 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TPRG1|CCDS3292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 4 3 7 24 35 24 35 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727864892 3 189706053 CT C 720 PASS LEPREL1 CCDS3294.1 r.? - - Del intronic D 189706053 189706058 1 45 646.177 - - 4 1 1 LEPREL1|CCDS3294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LEPREL1|CCDS3294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 8 7 9 39 32 39 32 7 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727865266 3 190694652 GT G 300 PASS - - - - - Del - D 190694652 190694659 1 12 269.491 - - 6 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 3 3 3 23 20 23 20 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727865466 3 191173085 AT A 480 PASS - - - - - Del - D 191173085 191173093 1 24 422.155 - - 7 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 3 6 5 28 43 28 43 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727866293 3 193784459 CTGAAAAATCATT C 290 PASS - - - - - Del - D 193784459 193784475 12 35 538.982 - - 1 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 4 6 4 7 31 27 31 27 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727866295 3 193785657 AGCAAG A 538 PASS - - - - - Del - D 193785657 193785667 5 36 538.982 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 5 5 6 5 33 27 33 27 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727867781 4 47655 A AGAAGAAGAC 377 PASS - - - - - Ins - I 47655 47658 9 50 620.562 - - 0 1 - - - ./. 0 0 0 0 101 34 103 37 0 0 ./. 9 4 10 5 201 124 204 124 11 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727870236 4 7398233 AG A 449 PASS SORCS2 CCDS47008.1 r.? - - Del intronic D 7398233 7398236 1 21 429.586 - - 2 1 1 SORCS2|CCDS47008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORCS2|CCDS47008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 6 2 8 2 32 28 32 28 8 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727872206 4 14366246 CT C 540 PASS - - - - - Del - D 14366246 14366255 1 24 482.231 - - 8 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 7 2 8 7 43 31 43 31 8 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727873623 4 19047221 GTATGTTAA G 261 PASS - - - - - Del - D 19047221 19047233 8 28 484.037 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 6 3 8 19 35 19 35 3 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727874818 4 22747515 AT A 420 PASS - - - - - Del - D 22747515 22747519 1 20 376.942 - - 3 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 4 3 4 3 32 34 32 34 4 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727875293 4 24099050 GC G 660 PASS - - - - - Del - D 24099050 24099054 1 42 591.735 - - 3 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 6 8 10 26 42 26 42 8 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727877354 4 29954720 CTTGGCCTCTTTATG C 261 PASS - - - - - Del - D 29954720 29954737 14 28 484.639 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 6 3 6 30 23 30 23 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727877630 4 31082481 GC G 300 PASS PCDH7 CCDS43220.1 r.? - - Del intronic D 31082481 31082483 1 10 269.244 - - 1 1 1 PCDH7|CCDS43220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH7|CCDS43220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 1 4 3 5 28 31 28 31 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727879607 4 37512400 CCTT C 358 PASS C4orf19 CCDS3442.1 r.? - - Del intronic D 37512400 37512407 3 20 368.513 - - 2 1 1 C4orf19|CCDS3442.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C4orf19|CCDS3442.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 4 5 4 25 25 25 25 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727882419 4 45070121 CT C 300 PASS - - - - - Del - D 45070121 45070125 1 12 269.244 - - 3 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 3 2 3 2 28 30 28 30 3 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727882827 4 46433856 AG A 420 PASS GABRA2 ENST00000510861 r.? - - Del intronic D 46433856 46433858 1 20 376.942 - - 1 1 1 GABRA2|ENST00000510861|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GABRA2|ENST00000510861|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 4 3 5 4 22 26 22 26 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727885368 4 54851063 CATATTA C 261 PASS AC110792.1 ENST00000511394 r.? - - Del intronic D 54851063 54851074 6 28 478.619 - - 1 1 1 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 6 3 9 22 32 22 32 3 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727885526 4 55236489 GC G 536 PASS - - - - - Del - D 55236489 55236492 1 42 591.133 - - 2 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 6 5 6 5 25 34 25 34 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727888748 4 64501616 TA T 420 PASS - - - - - Del - D 64501616 64501622 1 20 375.135 - - 5 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 4 3 6 4 43 27 43 27 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727888837 4 64743276 T TG 269 PASS - - - - - Ins - I 64743276 64743278 1 10 262.621 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 1 4 1 5 24 29 24 30 1 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727889775 4 67210332 GC G 420 PASS - - - - - Del - D 67210332 67210334 1 20 376.942 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 3 5 4 26 29 26 29 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727892283 4 75507454 TTC T 300 PASS - - - - - Del - D 75507454 75507471 2 12 269.244 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 2 3 36 28 36 28 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727894319 4 81989499 AGAAG AC 509 PASS - - - - - Complex - DI 81989500 81989503 4 30 0 - - 0 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 4 0 0 29 27 29 27 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727896251 4 88113863 GTACT G 389 PASS KLHL8 CCDS3617.1 r.? - - Del intronic D 88113863 88113871 4 18 375.737 - - 1 1 1 KLHL8|CCDS3617.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KLHL8|CCDS3617.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 2 5 3 4 37 22 37 22 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727897282 4 91499634 AAGAATTTTTTC A 319 PASS FAM190A CCDS47100.1 r.? - - Del intronic D 91499634 91499649 11 42 591.735 - - 1 1 1 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 5 6 7 8 30 42 30 42 7 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727897994 4 94193456 C CT 840 PASS GRID2 CCDS3637.1 r.? - - Ins intronic I 94193456 94193460 1 63 743.648 - - 3 1 1 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 18 12 0 0 ./. 8 6 10 7 33 43 34 43 10 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727898258 4 95012835 AG A 600 PASS - - - - - Del - D 95012835 95012838 1 20 537.886 - - 2 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 1 9 3 11 40 47 40 47 3 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727898317 4 95144264 A AC 300 PASS SMARCAD1 CCDS47101.1 r.? - - Ins intronic I 95144264 95144271 1 12 266.234 - - 6 1 1 SMARCAD1|CCDS47101.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMARCAD1|CCDS47101.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 5 3 33 32 34 32 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727899127 4 97461413 TA T 720 PASS - - - - - Del - D 97461413 97461417 1 48 646.185 - - 3 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 7 7 9 39 42 39 42 7 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727899231 4 97901153 A AC 300 PASS - - - - - Ins - I 97901153 97901154 1 12 266.234 - - 0 1 1 - - ./. 0 0 0 0 10 4 10 4 0 0 ./. 2 3 4 4 28 17 28 17 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727900066 4 100633206 GA G 360 PASS - - - - - Del - D 100633206 100633208 1 15 323.093 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 2 5 3 32 43 32 43 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727900705 4 102696933 C CAG 360 PASS BANK1 ENST00000504592 r.? - - Ins intronic I 102696933 102696947 2 12 312.858 - - 6 1 1 BANK1|ENST00000504592|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BANK1|ENST00000504592|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 6 18 6 0 0 ./. 5 1 6 2 41 16 42 16 6 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727901585 4 105580850 CT C 300 PASS - - - - - Del - D 105580850 105580854 1 10 269.244 - - 3 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 1 6 1 36 34 36 34 6 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727901654 4 105827204 T TA 300 PASS - - - - - Ins - I 105827204 105827214 1 10 265.632 - - 9 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 1 4 1 4 48 43 49 43 1 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727902050 4 107090594 GAA G 420 PASS TBCK CCDS3673.1 r.? - - Del intronic D 107090594 107090599 2 14 374.533 - - 4 1 1 TBCK|CCDS3673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBCK|CCDS3673.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 1 6 2 6 25 45 25 45 2 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727902129 4 107451428 TC T 480 PASS - - - - - Del - D 107451428 107451430 1 24 428.382 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 3 7 5 41 44 41 44 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727903561 4 111589374 CAGGTCACTGATTAAAATTATGCCAAAATAATATCTTTCTCTCTTCTAGGAATACATTTCTCTGTTTGGTTGTACACTTATACTGATACAGTAGAACCAGCCCAGCTGAATAAATTAGGACGGGTTAGGGGTATGTCATTCGTCAAATTATATGATTGTAAAAGTGGAAGGCTGCCAGATTTGGCTGGAACAGCAATAGCTTTCCTATGCTTGGCAAAGGATCTGAATATTTGGTTGAACCAATTTTACCATGGCACATGAAGTTCCTTGGTTAGTAAATGCTTGTATTATATCAGAGCCAAGAGGGTGGACACATACACTGAATTGAAACATAGGGAAAATCTTGGTTATCATCTTACTGATAAACTCAGTTATATGAGTTATGTTTATGCGTTGATTCCTTTGTGCAAAGGTGACATGTCGATCTAACCCCTTTGTTTTTGCCGACTAGTCAATAATTATATCATAGCTACTTAACTTTTTCAGAGTGTTTATTTTTGAATAGACAGCACATTTTTATTATTATATAGATATTGCTATGACATGGTATTTTGATATAAACATGCTCTAAAAACATAACTTTGAAGGAAAATCCAAGATTTTCGAAATTATTAGAGAGTTCTAGCTCTCCCAAATCAGGGAATCTCAAAGAAAGCGCCTTTCTTTTACCCTCACCCCCTGGCCTGGATTTCACAGGCAACAGCTTTTTTGCAGTTGTAAAGTTAGTCTTCAAATATAAACCGAGATCCTGGGCTTCATTACTGTTGTTGGCCAGAAAACTAGAGTCAGTGTTATCTCTAAGTTTGTGAAATTCAGAAAAAACAGCTCTGTGGTGGCAGGGCTAGAATTTTATAGCCTGGGTAAAGAATGCCATTGAAGTTGTCAGACTCATAAACTTAAAATGTTTAGATCTTTTGGAGGGAGGGAGCATGGTGTGATGGTGGAAGCAAAGAACTCCAAGTCTTCAGGACAATGTTTTCTTCCCAAGACTCATACATTCTCATACATTTTTACAACTTCAGACCAGTGTCTTCCTGCCTCAGTTTCTCCACCTACACAATGGAATAATTGTAAGAATTAACATAGCTTTGCTTGAGATCACAGTTTAG C 261 PASS - - - - - Del - D 111589374 111590486 1108 30 469.588 - - 1 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 5 4 0 0 22 30 27 34 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727903609 4 111784759 AC A 360 PASS MIR297 ENST00000401142 r.? - - Del upstream D 111784759 111784762 1 15 323.093 - - 2 1 1 MIR297|ENST00000401142|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 MIR297|ENST00000401142|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 6 13 6 13 0 0 ./. 4 2 4 2 34 28 34 28 4 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727903738 4 112255453 TTAATAAATTATGGTA T 261 PASS - - - - - Del - D 112255453 112255474 15 18 484.639 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 8 1 8 30 43 30 43 1 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727905121 4 116583694 A ACC 480 PASS - - - - - Ins - I 116583694 116583696 2 16 421.157 - - 1 1 - - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 1 7 2 9 25 36 25 36 2 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727905259 4 117004757 AG A 660 PASS - - - - - Del - D 117004757 117004762 1 42 591.133 - - 4 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 5 6 7 7 52 47 52 47 7 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727905411 4 117379908 CTGAGAAAAGAAAACCATCA CTCATT 435 PASS - - - - - Complex - DI 117379909 117379927 19 66 0 - - 0 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 10 0 0 37 45 37 46 5 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727905684 4 118320586 G GT 360 PASS - - - - - Ins - I 118320586 118320596 1 15 319.48 - - 9 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 4 5 7 43 51 45 53 5 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727906335 4 120530328 T TA 360 PASS PDE5A CCDS3713.1 r.? - - Ins intronic I 120530328 120530338 1 16 312.858 - - 9 1 1 PDE5A|CCDS3713.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE5A|CCDS3713.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 3 7 4 52 30 53 31 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727906337 4 120535684 TCGCTCATTTTATCATTGAGAG T 319 PASS PDE5A CCDS3713.1 r.? - - Del intronic D 120535684 120535709 21 40 590.531 - - 1 1 1 PDE5A|CCDS3713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE5A|CCDS3713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 7 4 6 37 39 37 40 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727907405 4 123608806 GA G 480 PASS - - - - - Del - D 123608806 123608812 1 24 430.79 - - 5 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 5 4 7 24 41 24 41 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727907615 4 124261978 GAATGAACTACAGCCACATGCAGATGGGTGAATCTTAGCAATGTAATGGAAACGAAAGTCGCAAAACATATACTACACGATACCTTTTATACAGTTTAAAGTAGCTA G 261 PASS - - - - - Del - D 124261978 124262087 106 30 484.037 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 5 0 0 46 30 50 35 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727908228 4 126085006 TC T 360 PASS - - - - - Del - D 126085006 126085008 1 15 323.093 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 2 8 5 35 57 35 57 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727910133 4 131900986 GCT G 360 PASS - - - - - Del - D 131900986 131901006 2 15 322.491 - - 9 1 - - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 2 6 2 49 47 49 47 6 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727911125 4 134844053 C CT 300 PASS - - - - - Ins - I 134844053 134844059 1 12 265.03 - - 5 1 1 - - ./. 0 0 0 0 13 14 13 16 0 0 ./. 3 2 4 4 34 34 35 34 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727911308 4 135717157 ACATAGCAGGAC A 290 PASS - - - - - Del - D 135717157 135717172 11 32 531.263 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 7 4 9 31 40 31 40 4 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727911309 4 135718654 TAGG T 305 PASS - - - - - Del - D 135718654 135718660 3 20 376.942 - - 1 1 1 - - ./. 0 0 0 0 3 12 3 12 0 0 ./. 3 4 3 4 24 30 24 31 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727911968 4 137553981 ACAT A 329 PASS - - - - - Del - D 137553981 137553988 3 16 323.093 - - 2 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 3 4 3 36 26 36 26 4 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727914639 4 146091640 TTGCTTTGTCTACCCAGC T 522 PASS OTUD4 CCDS47139.1 r.? - - Del intronic D 146091640 146091659 17 96 969.278 - - 1 1 1 OTUD4|CCDS47139.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OTUD4|CCDS47139.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 22 24 22 0 0 ./. 11 7 10 6 38 36 39 37 11 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727915130 4 147769154 A AT 420 PASS TTC29 CCDS47141.1 r.? - - Ins intronic I 147769154 147769163 1 14 372.727 - - 8 1 1 TTC29|CCDS47141.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC29|CCDS47141.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 6 1 7 1 35 27 35 27 7 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727915186 4 147992184 C CT 300 PASS - - - - - Ins - I 147992184 147992194 1 12 266.234 - - 9 1 1 - - ./. 0 0 0 0 11 21 13 21 0 0 ./. 3 2 3 2 34 35 34 36 3 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727915311 4 148340606 GT G 660 PASS - - - - - Del - D 148340606 148340610 1 40 592.337 - - 3 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 7 5 8 24 35 24 35 5 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727915587 4 149125365 CTTA C 509 PASS NR3C2 CCDS3772.1 r.? - - Del intronic D 149125365 149125373 3 10 484.639 - - 2 1 1 NR3C2|CCDS3772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NR3C2|CCDS3772.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 9 0 11 1 32 21 32 21 11 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727915813 4 149869117 AGTTGGGGTAACAT A 377 PASS - - - - - Del - D 149869117 149869133 13 54 700.034 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 8 5 9 31 43 31 43 5 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727918711 4 159223054 CTATCCAAGATGTGGTTCCCTAGAAGCAGAG CAGAAT 406 PASS - - - - - Complex - DI 159223055 159223084 30 55 0 - - 0 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 10 0 0 26 22 27 26 4 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727919776 4 162219798 CT C 420 PASS - - - - - Del - D 162219798 162219805 1 14 376.942 - - 6 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 1 6 3 9 34 33 34 33 3 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727920620 4 164700352 TC T 329 PASS MARCH1 CCDS45732.1 r.? - - Del intronic D 164700352 164700354 1 16 323.093 - - 1 1 1 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 3 6 3 29 30 29 30 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727922490 4 169904277 AGTTG A 536 PASS CBR4 CCDS3812.1 r.? - - Del downstream D 169904277 169904285 4 42 592.337 - - 1 1 1 CBR4|CCDS3812.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CBR4|ENST00000419710|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 6 5 7 7 32 49 32 49 7 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727922731 4 170762320 AT A 420 PASS - - - - - Del - D 170762320 170762327 1 20 375.737 - - 6 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 3 4 4 4 41 21 41 21 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727923346 4 172688986 AT A 540 PASS - - - - - Del - D 172688986 172688990 1 30 484.639 - - 3 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 4 6 6 32 37 32 37 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727923564 4 173303591 A AT 360 PASS GALNTL6 CCDS34104.1 r.? - - Ins intronic I 173303591 173303598 1 15 319.48 - - 6 1 1 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 24 13 24 0 0 ./. 4 2 5 5 30 41 30 41 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727923780 4 173890552 G GA 300 PASS GALNTL6 CCDS34104.1 r.? - - Ins intronic I 173890552 173890559 1 10 265.03 - - 6 1 1 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 17 18 0 0 ./. 4 1 5 2 32 37 32 37 5 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727924197 4 175125931 TC T 540 PASS - - - - - Del - D 175125931 175125933 1 24 484.037 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 7 4 10 19 37 19 37 4 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727924883 4 177184651 GA G 480 PASS ASB5 CCDS3827.1 r.? - - Del intronic D 177184651 177184661 1 24 430.79 - - 9 1 1 ASB5|CCDS3827.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASB5|CCDS3827.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 3 7 3 32 34 32 34 7 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727924884 4 177185048 GA G 840 PASS ASB5 CCDS3827.1 r.? - - Del intronic D 177185048 177185057 1 60 753.281 - - 8 1 1 ASB5|CCDS3827.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASB5|CCDS3827.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 5 9 6 13 31 40 31 40 6 13 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727925479 4 178708954 TA T 660 PASS ENSG00000231171 ENST00000507870 r.? - - Del intronic D 178708954 178708959 1 40 592.337 - - 4 1 1 ENSG00000231171|ENST00000507870|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000231171|ENST00000507870|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 7 4 9 7 39 35 39 35 9 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727925588 4 178945861 AC A 420 PASS - - - - - Del - D 178945861 178945866 1 20 370.921 - - 4 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 3 6 3 37 31 37 31 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727925626 4 179037080 GT G 720 PASS - - - - - Del - D 179037080 179037085 1 48 646.185 - - 4 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 5 7 7 9 35 42 35 42 7 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727926441 4 181177508 G GT 360 PASS - - - - - Ins - I 181177508 181177517 1 16 314.664 - - 8 1 1 - - ./. 0 0 0 0 18 20 18 21 0 0 ./. 3 3 4 4 29 35 29 35 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727926755 4 181811368 TG T 269 PASS - - - - - Del - D 181811368 181811372 1 12 268.04 - - 3 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 2 3 3 26 20 26 20 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727927907 4 184704204 A AT 840 PASS - - - - - Ins - I 184704204 184704212 1 63 741.842 - - 7 1 1 - - ./. 0 0 0 0 15 14 15 15 0 0 ./. 8 6 10 6 36 35 36 35 10 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727928296 4 185660558 ATAGTCCAGACT A 261 PASS - - - - - Del - D 185660558 185660572 11 30 482.231 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 5 4 4 17 31 17 32 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727929072 4 187657927 AG A 329 PASS - - - - - Del - D 187657927 187657929 1 15 321.287 - - 1 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 4 2 4 2 30 25 30 25 4 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727930045 4 190040934 G GA 360 PASS - - - - - Ins - I 190040934 190040942 1 16 319.48 - - 7 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 3 5 3 41 26 41 26 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727930172 4 190267715 A AT 300 PASS - - - - - Ins - I 190267715 190267724 1 10 265.632 - - 8 1 1 - - ./. 0 0 0 0 15 15 15 16 0 0 ./. 4 1 4 1 49 33 50 33 4 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727932926 5 4057365 AAGCATTCAACAAAATCC A 348 PASS - - - - - Del - D 4057365 4057388 17 48 646.165 - - 1 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 7 5 6 4 37 29 38 30 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727933177 5 4851580 ACT A 300 PASS ENSG00000224867 ENST00000416839 r.? - - Del intronic D 4851580 4851585 2 6 269.737 - - 2 1 1 ENSG00000224867|ENST00000416839|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000224867|ENST00000416839|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 0 5 1 6 16 43 16 43 1 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727934353 5 8175999 CTTGGAA C 290 PASS - - - - - Del - D 8175999 8176008 6 35 539.475 - - 1 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 4 6 4 6 27 25 27 25 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727935104 5 10452845 TA T 327 PASS ROPN1L CCDS3879.1 r.? - - Del intronic D 10452845 10452850 1 18 377.03 - - 4 1 1 ROPN1L|CCDS3879.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROPN1L|CCDS3879.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 9 22 9 0 0 ./. 2 5 3 6 42 33 42 33 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727937862 5 18907534 AT A 480 PASS - - - - - Del - D 18907534 18907544 1 21 430.978 - - 9 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 2 6 3 9 18 39 18 39 3 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727939735 5 24530596 AG A 509 PASS CDH10 CCDS3892.1 r.? - - Del intronic D 24530596 24530601 1 28 485.527 - - 4 1 1 CDH10|CCDS3892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDH10|CCDS3892.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 6 3 6 3 35 19 35 19 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727940185 5 25722613 G GA 420 PASS - - - - - Ins - I 25722613 25722622 1 14 372.816 - - 8 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 1 6 3 7 29 24 29 25 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727940805 5 27782822 CACTA C 449 PASS - - - - - Del - D 27782822 27782828 4 16 431.58 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 7 2 10 22 34 22 34 2 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727940900 5 28059091 CA C 360 PASS - - - - - Del - D 28059091 28059097 1 15 323.685 - - 5 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 2 7 4 27 18 27 18 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727941160 5 28806114 AAC A 300 PASS - - - - - Del - D 28806114 28806130 2 12 269.737 - - 7 1 1 - - ./. 0 0 0 0 5 5 5 5 0 0 ./. 3 2 3 2 27 31 27 31 3 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727941225 5 28975349 CT C 600 PASS - - - - - Del - D 28975349 28975357 1 35 539.475 - - 7 1 1 - - ./. 0 0 0 0 16 28 16 28 0 0 ./. 4 6 5 6 40 36 40 36 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727941881 5 30572574 AG A 360 PASS - - - - - Del - D 30572574 30572576 1 15 323.083 - - 1 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 2 4 3 5 24 22 24 22 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727947385 5 51893536 A ATGAT 625 PASS - - - - - Ins - I 51893536 51893540 4 44 669.408 - - 0 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 10 3 10 3 35 27 36 27 10 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727947429 5 52001320 G GT 480 PASS - - - - - Ins - I 52001320 52001330 1 24 423.151 - - 9 1 1 - - ./. 0 0 0 0 16 14 17 14 0 0 ./. 5 3 7 4 40 42 41 43 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727947508 5 52191207 AGCTCTCCCGGTG ATAATCTGGT 261 PASS ITGA1 CCDS3955.1 r.? - - Complex intronic DI 52191208 52191219 12 24 0 - - 0 1 1 ITGA1|CCDS3955.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ITGA1|CCDS3955.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 7 0 0 20 34 20 34 2 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727949194 5 56902995 GTCACCATAT G 435 PASS - - - - - Del - D 56902995 56903008 9 72 808.61 - - 1 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 8 7 9 7 27 34 27 34 9 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727949456 5 57749968 G GA 300 PASS PLK2 CCDS3974.1 r.2800_2801insu c.? p.? Ins 3'UTR variant I 57749968 57749977 1 12 264.921 - - 8 1 1 PLK2|CCDS3974.1|r.2800_2801insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 PLK2|CCDS3974.1|r.2800_2801insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 18 15 18 16 0 0 ./. 3 2 2 4 32 30 32 30 3 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727949980 5 59707722 AG A 360 PASS PDE4D CCDS47032.1 r.? - - Del intronic D 59707722 59707725 1 15 323.685 - - 2 1 1 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 4 4 6 29 31 29 31 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727950745 5 62578835 AG A 360 PASS - - - - - Del - D 62578835 62578839 1 16 319.47 - - 3 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 3 3 3 4 17 24 17 24 3 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727950892 5 62965153 GGTAAATATGGAAAGGAAAGACCATTACAAGTCA G 290 PASS - - - - - Del - D 62965153 62965187 33 36 539.475 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 5 4 5 19 29 20 30 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727950914 5 63027967 G GT 360 PASS - - - - - Ins - I 63027967 63027977 1 16 318.266 - - 9 1 1 - - ./. 0 0 0 0 13 16 14 16 0 0 ./. 3 3 5 4 28 31 29 31 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727952235 5 67532815 GT G 480 PASS PIK3R1 CCDS3993.1 r.? - - Del intronic D 67532815 67532820 1 24 431.58 - - 4 1 1 PIK3R1|CCDS3993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIK3R1|CCDS3993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 3 8 3 39 36 39 36 8 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727952532 5 68482438 ATTGTTA AATTGG 507 PASS CENPH CCDS3998.1 r.? - - Complex upstream DI 68482439 68482444 6 35 0 - - 0 1 1 CENPH|CCDS3998.1|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 CENPH|CCDS3998.1|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 ./. 0 0 0 0 14 15 14 15 0 0 ./. 6 4 0 0 30 31 30 31 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727953205 5 72274884 GGCCTGAAATT G 261 PASS FCHO2 CCDS47230.1 r.? - - Del intronic D 72274884 72274895 10 10 485.527 - - 1 1 1 FCHO2|CCDS47230.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FCHO2|CCDS47230.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 0 9 0 11 27 31 27 31 0 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727954204 5 75534129 A ATG 420 PASS SV2C ENST00000502798 r.? - - Ins intronic I 75534129 75534145 2 20 369.203 - - 7 1 - SV2C|ENST00000502798|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SV2C|ENST00000502798|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 15 11 15 0 0 ./. 3 4 5 5 33 31 33 31 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727956899 5 83961678 AT A 480 PASS - - - - - Del - D 83961678 83961685 1 21 430.978 - - 6 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 6 2 8 6 40 32 40 32 8 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727956965 5 84093609 GA G 660 PASS - - - - - Del - D 84093609 84093613 1 36 593.422 - - 3 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 8 4 10 37 39 37 39 4 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727960579 5 97135881 CA C 420 PASS - - - - - Del - D 97135881 97135883 1 20 375.224 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 3 6 5 27 30 27 30 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727960910 5 98233384 TCTGAATTCCAAGTTATCCCTATG T 261 PASS CHD1 CCDS34204.1 r.? - - Del intronic D 98233384 98233408 23 24 484.925 - - 1 1 1 CHD1|CCDS34204.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHD1|CCDS34204.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 7 2 6 1 36 26 37 27 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727962597 5 103928391 C CT 480 PASS - - - - - Ins - I 103928391 103928395 1 24 423.753 - - 3 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 3 7 5 32 32 32 32 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727962658 5 104086608 CT C 540 PASS ENSG00000232402 ENST00000438939 r.? - - Del intronic D 104086608 104086614 1 30 485.527 - - 5 1 1 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000232402|ENST00000438939|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 5 7 6 35 27 35 27 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727964808 5 111234715 A AT 480 PASS C5orf13 CCDS47255.1 r.? - - Ins intronic I 111234715 111234716 1 24 426.161 - - 0 1 1 C5orf13|CCDS47255.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C5orf13|CCDS47255.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 5 3 11 30 48 30 49 3 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727966120 5 115705410 TAACTCCGGATTCCAGGAGGA T 377 PASS AC010296.1 ENST00000510440 r.941_960del20 - - Del non-coding variant D 115705410 115705435 20 56 700.715 - - 1 1 1 AC010296.1|ENST00000510440|r.941_960del20|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 AC010296.1|ENST00000510440|r.941_960del20|-|-|non_protein_coding:exon:deletion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000159:SO:0001619 ./. 0 0 0 0 15 17 15 17 0 0 ./. 6 7 4 4 32 25 34 28 6 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727970651 5 130797733 TTCA T 687 PASS FNIP1 ENST00000514667 r.2738_2740delUGA c.2676_2678delTGA p.D892delD Del inframe D 130797733 130797739 3 44 701.317 - - 1 1 1 FNIP1|ENST00000514667|r.2738_2740delUGA|c.2676_2678delTGA|p.D892delD|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 FNIP1|ENST00000514667|r.2738_2740delUGA|c.2676_2678delTGA|p.D892delD|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 4 13 4 13 0 0 ./. 3 10 4 12 24 48 24 48 4 12 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727974468 5 144543161 G GA 300 PASS - - - - - Ins - I 144543161 144543168 1 12 266.727 - - 6 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 3 3 28 40 29 40 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727974850 5 145906724 GT G 480 PASS - - - - - Del - D 145906724 145906729 1 25 429.171 - - 4 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 4 7 6 34 32 34 32 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727975280 5 147276070 GA G 720 PASS C5orf46 CCDS34267.1 r.? - - Del intronic D 147276070 147276076 1 40 647.37 - - 5 1 1 C5orf46|CCDS34267.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 C5orf46|CCDS34267.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 9 3 12 3 34 25 34 25 12 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727976263 5 150926733 TA T 420 PASS FAT2 CCDS4317.1 r.? - - Del intronic D 150926733 150926739 1 20 377.632 - - 5 1 1 FAT2|CCDS4317.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAT2|CCDS4317.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 3 6 4 43 24 43 24 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727976936 5 153004224 AG A 360 PASS GRIA1 CCDS4322.1 r.? - - Del intronic D 153004224 153004231 1 15 323.685 - - 6 1 1 GRIA1|CCDS4322.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIA1|CCDS4322.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 4 4 4 24 19 24 19 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727978700 5 158965762 AG A 540 PASS - - - - - Del - D 158965762 158965764 1 30 484.925 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 4 7 4 23 35 23 35 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727979854 5 162670187 GT G 254 PASS - - - - - Del - D 162670187 162670191 1 18 377.03 - - 3 1 1 - - ./. 0 0 0 0 5 18 5 18 0 0 ./. 2 5 3 4 28 25 28 25 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727980358 5 164331701 A AT 540 PASS - - - - - Ins - I 164331701 164331702 1 28 479.507 - - 0 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 6 3 7 3 32 34 32 34 7 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727981006 5 166484788 TC T 720 PASS - - - - - Del - D 166484788 166484791 1 49 640.145 - - 2 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 6 6 6 6 30 25 30 25 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727981224 5 167189029 AGCGCT A 478 PASS - - - - - Del - D 167189029 167189037 5 30 484.323 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 4 5 6 36 35 36 35 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727981905 5 169381684 CTGGGCCCTTTCAAACTTGTTGTTGTTGTTGTTTGTTTATT C 377 PASS DOCK2 CCDS4371.1 r.? - - Del intronic D 169381684 169381727 40 54 697.705 - - 1 1 1 DOCK2|CCDS4371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOCK2|CCDS4371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 8 5 4 0 24 32 27 37 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727982551 5 171539318 TAC T 300 PASS STK10 CCDS34290.1 r.? - - Del intronic D 171539318 171539335 2 12 268.533 - - 8 1 1 STK10|CCDS34290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK10|CCDS34290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 2 3 3 23 42 23 42 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727984051 5 175677785 AC A 389 PASS C5orf25 CCDS4398.2 r.? - - Del intronic D 175677785 175677789 1 18 377.632 - - 3 1 1 C5orf25|CCDS4398.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C5orf25|CCDS4398.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 5 4 6 32 32 32 32 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727985074 5 178388320 AC A 360 PASS ZNF454 CCDS4441.1 r.? - - Del intronic D 178388320 178388322 1 15 320.674 - - 1 1 1 ZNF454|CCDS4441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF454|CCDS4441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 2 5 5 23 18 23 18 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727985822 5 180255624 AG A 780 PASS - - - - - Del - D 180255624 180255627 1 54 701.317 - - 2 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 8 5 10 6 36 33 36 33 10 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727988442 6 7226704 GACATTTGTTGTGTCACCTTTCGAAC G 261 PASS RREB1 CCDS34335.1 r.1250_1274del25 c.713_737del25 p.C240fs*37 Del frameshift D 7226704 7226734 25 30 485.638 - - 1 1 1 RREB1|CCDS34335.1|r.1250_1274del25|c.713_737del25|p.C240fs*37|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 RREB1|CCDS34335.1|r.1250_1274del25|c.713_737del25|p.C240fs*37|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 5 4 3 43 30 43 32 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727988993 6 8573509 TCAGTGATTTTTGCCA T 348 PASS AL135912.1 ENST00000498984 r.? - - Del intronic D 8573509 8573528 15 45 647.517 - - 1 1 1 AL135912.1|ENST00000498984|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL135912.1|ENST00000498984|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 4 8 4 7 19 32 19 33 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727990664 6 13258509 CCTGGGAGGCGGAGGTTGTAGTGAG C 348 PASS PHACTR1 ENST00000379350 r.? - - Del intronic D 13258509 13258537 24 49 644.507 - - 1 1 1 PHACTR1|ENST00000379350|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHACTR1|ENST00000379350|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 6 6 5 7 28 38 29 38 6 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727990798 6 13559147 GGCTGGGACAGA G 319 PASS - - - - - Del - D 13559147 13559165 11 40 592.955 - - 1 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 7 4 8 5 41 23 41 23 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727994570 6 23133018 TAACACTGAGAGAGAC T 348 PASS - - - - - Del - D 23133018 23133036 15 45 647.517 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 8 4 8 26 29 26 29 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727995612 6 25578806 TA T 600 PASS LRRC16A ENST00000329474 r.? - - Del intronic D 25578806 25578812 1 36 538.995 - - 5 1 1 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 5 7 7 41 36 41 36 7 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727995870 6 26346759 AATCC A 389 PASS - - - - - Del - D 26346759 26346765 4 20 377.718 - - 1 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 3 4 3 6 23 34 23 34 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727996530 6 28316904 A ATATACATGTCTCATATACATAGGTG 300 PASS ZNF323 CCDS4649.1 r.? - - Ins intronic I 28316904 28316909 25 12 193.939 - - 0 1 - ZNF323|CCDS4649.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF323|CCDS4649.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 2 3 0 0 30 21 30 21 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727997394 6 30121987 AC A 660 PASS TRIM10 CCDS34375.1 r.1280delG c.1204delG p.V402fs*4 Del frameshift D 30121987 30121993 1 42 589.343 - - 5 1 1 TRIM10|CCDS34375.1|r.1280delG|c.1204delG|p.V402fs*4|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 TRIM10|CCDS34375.1|r.1280delG|c.1204delG|p.V402fs*4|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 15 8 15 8 0 0 ./. 6 5 6 5 19 26 19 26 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727998512 6 32213703 AC A 660 PASS - - - - - Del - D 32213703 32213708 1 40 585.73 - - 4 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 7 4 8 38 28 38 28 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2727999468 6 33007058 GA G 660 PASS - - - - - Del - D 33007058 33007063 1 40 593.557 - - 4 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 7 5 10 19 37 19 37 5 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728001835 6 39141649 AAAGGACCT A 290 PASS - - - - - Del - D 39141649 39141659 8 36 539.597 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 5 6 5 43 25 43 26 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728002125 6 40230979 TGCCTGTAGTCCCACAACTTTGGGACTACAGGATCTCTGGCTCAAG T 348 PASS - - - - - Del - D 40230979 40231028 45 49 647.517 - - 1 1 1 - - ./. 0 0 0 0 15 28 15 28 0 0 ./. 6 6 1 2 28 26 33 30 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728002128 6 40234736 GC G 420 PASS - - - - - Del - D 40234736 40234740 1 20 373.504 - - 3 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 4 3 5 35 30 35 30 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728003706 6 45309738 T TA 300 PASS RUNX2 CCDS43467.1 r.? - - Ins intronic I 45309738 45309748 1 10 263.778 - - 9 1 1 RUNX2|CCDS43467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RUNX2|CCDS43467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 1 4 2 5 35 42 35 42 2 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728005072 6 50159565 CT C 660 PASS - - - - - Del - D 50159565 50159570 1 40 591.751 - - 4 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 7 8 11 44 35 44 35 8 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728005381 6 51391718 GTGGGGCCAAGTCTA G 290 PASS - - - - - Del - D 51391718 51391733 14 35 539.597 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 6 4 6 26 26 26 26 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728006620 6 55374494 TAA T 540 PASS HMGCLL1 CCDS43475.1 r.? - - Del intronic D 55374494 55374503 2 28 484.434 - - 8 1 1 HMGCLL1|CCDS43475.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMGCLL1|CCDS43475.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 6 3 8 4 30 38 30 38 8 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728006622 6 55376872 ATTAAGAGGGT A 464 PASS HMGCLL1 CCDS43475.1 r.? - - Del intronic D 55376872 55376889 10 81 861.55 - - 1 1 1 HMGCLL1|CCDS43475.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMGCLL1|ENST00000428842|r.2428_2437delACCCUCUUAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 11 9 11 0 0 ./. 8 8 8 8 35 40 35 40 8 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728009207 6 63593830 AC A 329 PASS - - - - - Del - D 63593830 63593832 1 15 323.758 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 2 6 5 25 30 25 30 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728011070 6 68927063 GT G 480 PASS - - - - - Del - D 68927063 68927065 1 21 431.678 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 6 3 7 31 32 31 32 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728011242 6 69605672 G GT 420 PASS BAI3 CCDS4968.1 r.? - - Ins intronic I 69605672 69605682 1 18 366.279 - - 9 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 9 19 10 0 0 ./. 2 5 5 6 36 28 36 28 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728013550 6 77978360 TTC T 300 PASS - - - - - Del - D 77978360 77978376 2 12 269.197 - - 7 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 2 3 2 29 25 29 25 3 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728014333 6 80666619 TA T 338 PASS - - - - - Del - D 80666619 80666623 1 14 377.718 - - 3 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 1 6 2 25 17 25 17 6 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728015317 6 83584271 GA G 660 PASS - - - - - Del - D 83584271 83584281 1 40 593.557 - - 9 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 7 4 8 6 30 28 30 28 8 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728015448 6 84301952 ATG A 420 PASS SNAP91 CCDS47455.1 r.? - - Del intronic D 84301952 84301958 2 14 377.116 - - 2 1 1 SNAP91|CCDS47455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNAP91|CCDS47455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 6 1 6 1 18 21 18 21 6 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728015653 6 85258523 T TA 540 PASS - - - - - Ins - I 85258523 85258531 1 18 480.219 - - 7 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 8 1 8 4 31 26 31 26 8 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728022042 6 108575264 GAACTTGCAGTGAGC G 290 PASS SNX3 CCDS5064.1 r.? - - Del intronic D 108575264 108575279 14 32 526.954 - - 1 1 1 SNX3|CCDS5064.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX3|CCDS5064.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 7 3 6 3 24 18 25 18 7 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728023103 6 112998478 TG T 300 PASS - - - - - Del - D 112998478 112998484 1 12 264.38 - - 5 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 2 4 3 19 24 19 24 4 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728024401 6 117836135 AG A 329 PASS DCBLD1 CCDS34522.1 r.? - - Del intronic D 117836135 117836137 1 15 311.717 - - 1 1 1 DCBLD1|CCDS34522.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCBLD1|CCDS34522.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 2 5 2 29 14 29 14 5 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728029285 6 136142143 CTTTTATGTGCTCCTCAGGGCAG C 377 PASS - - - - - Del - D 136142143 136142168 22 50 701.477 - - 1 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 4 9 3 7 20 26 21 28 4 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728030398 6 140620748 C CA 300 PASS - - - - - Ins - I 140620748 140620758 1 12 265.584 - - 9 1 1 - - ./. 0 0 0 0 20 11 20 11 0 0 ./. 2 3 2 3 37 22 38 22 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728031077 6 143280414 GC G 780 PASS - - - - - Del - D 143280414 143280417 1 50 700.875 - - 2 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 9 6 11 21 29 21 29 6 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728031953 6 147114091 AG A 360 PASS C6orf103 CCDS47498.1 r.? - - Del intronic D 147114091 147114093 1 15 320.146 - - 1 1 1 C6orf103|CCDS47498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf103|CCDS47498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 4 3 5 16 20 16 20 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728035060 6 157785366 A AAC 329 PASS - - - - - Ins - I 157785366 157785368 2 7 302.686 - - 0 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 6 0 1 0 26 17 26 17 6 0 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728035610 6 159395296 AG A 869 PASS RSPH3 CCDS5260.1 r.? - - Del downstream D 159395296 159395298 1 66 806.386 - - 1 1 1 RSPH3|CCDS5260.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RSPH3|CCDS5260.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 23 16 23 16 0 0 ./. 10 5 14 7 50 21 50 21 14 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728037771 6 166593945 CTCGATACTG C 290 PASS - - - - - Del - D 166593945 166593957 9 32 538.393 - - 1 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 7 3 7 5 28 29 28 29 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728038006 6 167385848 GCCATCCCACTTTC G 290 PASS - - - - - Del - D 167385848 167385866 13 36 539.597 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 5 5 6 18 26 18 26 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728040220 7 3836603 CT C 300 PASS SDK1 CCDS34590.1 r.? - - Del intronic D 3836603 3836613 1 10 269.822 - - 9 1 1 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 1 4 2 4 22 29 22 29 2 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728040677 7 5143554 GTGG GAC 433 PASS - - - - - Complex - DI 5143555 5143557 3 28 0 - - 0 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 6 3 0 0 30 31 30 31 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728042777 7 10144553 TTGCCACATATCTTTC T 319 PASS - - - - - Del - D 10144553 10144573 15 40 592.404 - - 1 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 4 7 4 7 33 48 33 48 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728043637 7 12511077 GT G 360 PASS - - - - - Del - D 12511077 12511083 1 16 323.184 - - 5 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 4 5 37 40 37 40 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728043799 7 12859615 ATTAAGTGAATTGAAATCCCAC A 377 PASS - - - - - Del - D 12859615 12859640 21 50 696.72 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 9 4 9 35 44 35 44 4 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728044455 7 14686960 AAAC A 538 PASS DGKB CCDS47547.1 r.? - - Del intronic D 14686960 14686987 3 32 539.644 - - 8 1 - DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 3 10 3 35 43 35 43 10 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728044915 7 15989568 TG T 360 PASS - - - - - Del - D 15989568 15989574 1 16 321.98 - - 5 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 3 4 5 21 25 21 25 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728045212 7 16872624 TACCCCATA T 377 PASS AGR2 ENST00000412973 r.? - - Del intronic D 16872624 16872634 8 44 701.537 - - 1 1 1 AGR2|ENST00000412973|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 AGR2|ENST00000412973|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 10 4 11 37 46 37 46 4 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728045389 7 17454343 C CT 360 PASS - - - - - Ins - I 17454343 17454345 1 15 320.174 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 2 6 2 50 28 51 29 6 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728045390 7 17454655 AG A 360 PASS - - - - - Del - D 17454655 17454658 1 7 323.786 - - 2 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 0 6 2 8 34 43 34 43 2 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728046013 7 19436268 TG T 420 PASS - - - - - Del - D 19436268 19436276 1 20 377.751 - - 7 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 3 5 9 34 33 34 33 5 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728046093 7 19779854 G GA 480 PASS TMEM196 CCDS34607.2 r.? - - Ins intronic I 19779854 19779861 1 16 426.898 - - 6 1 1 TMEM196|CCDS34607.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM196|CCDS34607.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 1 7 2 9 37 49 37 49 2 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728046393 7 20786842 TTTGTTTTATGTATTGTGAA TTATAA 290 PASS ABCB5 CCDS5371.1 r.? - - Complex intronic DI 20786843 20786861 19 36 0 - - 0 1 1 ABCB5|CCDS5371.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ABCB5|CCDS5371.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 5 5 0 0 48 43 50 43 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728046922 7 22033829 TTG T 269 PASS - - - - - Del - D 22033829 22033843 2 12 269.822 - - 6 1 - - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 2 3 2 3 40 35 40 35 2 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728047823 7 24363965 C CA 420 PASS - - - - - Ins - I 24363965 24363974 1 20 372.332 - - 8 1 1 - - ./. 0 0 0 0 20 23 20 23 0 0 ./. 4 3 6 5 34 37 34 37 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728049022 7 27927542 CAGGCAGAGGAATAA C 261 PASS JAZF1 CCDS5416.1 r.? - - Del intronic D 27927542 27927560 14 30 485.077 - - 1 1 1 JAZF1|CCDS5416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JAZF1|CCDS5416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 4 4 4 41 36 42 36 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728049292 7 28761884 TTGGAAGGCTC T 290 PASS CREB5 CCDS5417.1 r.? - - Del intronic D 28761884 28761899 10 36 539.644 - - 1 1 1 CREB5|CCDS5417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CREB5|CCDS5417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 5 6 5 32 40 32 40 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728049821 7 30244320 TTC T 300 PASS - - - - - Del - D 30244320 30244338 2 12 269.822 - - 8 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 3 2 30 31 30 31 3 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728052129 7 36723455 CG C 960 PASS AOAH CCDS5448.1 r.? - - Del intronic D 36723455 36723459 1 77 860.42 - - 3 1 1 AOAH|CCDS5448.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AOAH|CCDS5448.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 6 16 6 0 0 ./. 6 10 11 11 27 29 27 29 11 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728052339 7 37286878 AG A 360 PASS ELMO1 CCDS5449.1 r.? - - Del intronic D 37286878 37286880 1 16 323.786 - - 1 1 1 ELMO1|CCDS5449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELMO1|CCDS5449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 3 6 3 42 18 42 18 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728052627 7 37932458 TG T 480 PASS TXNDC3 CCDS5452.1 r.? - - Del intronic D 37932458 37932466 1 24 431.715 - - 7 1 1 TXNDC3|CCDS5452.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TXNDC3|CCDS5452.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 4 17 4 0 0 ./. 5 3 7 3 41 22 41 22 7 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728053587 7 40322707 TG T 420 PASS C7orf10 ENST00000309930 r.? - - Del intronic D 40322707 40322711 1 20 377.751 - - 3 1 1 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 4 7 5 40 37 40 37 7 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728053740 7 40737613 CAGGT C 449 PASS C7orf10 ENST00000309930 r.? - - Del intronic D 40737613 40737620 4 25 431.113 - - 1 1 1 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 4 4 4 39 28 39 28 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728056188 7 48873493 GA G 360 PASS - - - - - Del - D 48873493 48873502 1 16 323.786 - - 8 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 3 6 6 28 28 28 28 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728056189 7 48874723 AT A 360 PASS - - - - - Del - D 48874723 48874728 1 16 323.786 - - 4 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 5 6 22 34 22 34 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728056318 7 49345072 G GT 600 PASS - - - - - Ins - I 49345072 49345079 1 35 533.021 - - 6 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 6 4 8 6 30 33 31 33 8 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728057189 7 52115673 TA T 480 PASS - - - - - Del - D 52115673 52115677 1 25 431.715 - - 3 1 1 - - ./. 0 0 0 0 4 19 4 19 0 0 ./. 4 4 4 4 12 31 12 31 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728058233 7 55253501 GCACCAAACTA G 261 PASS EGFR CCDS5514.1 r.? - - Del intronic D 55253501 55253515 10 28 485.077 - - 1 1 1 EGFR|CCDS5514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EGFR|CCDS5514.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 3 6 3 6 17 26 17 26 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728060499 7 61910965 TA T 840 PASS - - - - - Del - D 61910965 61910971 1 48 754.899 - - 5 1 1 - - ./. 0 0 0 0 34 32 34 32 0 0 ./. 11 3 13 5 67 60 67 60 13 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728062332 7 66293889 AACTCCTGGACTCAGG ATCT 290 PASS - - - - - Complex - DI 66293890 66293904 15 32 0 - - 0 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 7 0 0 26 42 28 42 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728065047 7 73386025 TACTGGG TAC 540 PASS - - - - - Complex - DI 73386026 73386031 6 28 0 - - 0 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 3 0 0 40 26 40 26 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728065238 7 73933689 TGTGTGAAACA T 261 PASS GTF2IRD1 CCDS5571.1 r.? - - Del intronic D 73933689 73933701 10 30 483.873 - - 1 1 1 GTF2IRD1|CCDS5571.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GTF2IRD1|CCDS5571.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 4 5 5 29 33 29 33 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728066083 7 76761878 A AT 269 PASS CCDC146 CCDS34671.1 r.? - - Ins intronic I 76761878 76761879 1 12 260.791 - - 0 1 - CCDC146|CCDS34671.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CCDC146|CCDS34671.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 3 3 4 11 17 11 17 3 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728067573 7 81265910 G GA 600 PASS - - - - - Ins - I 81265910 81265916 1 35 532.419 - - 5 1 1 - - ./. 0 0 0 0 4 13 4 13 0 0 ./. 4 6 4 7 18 29 18 30 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728068418 7 83892662 GTCAGACT G 290 PASS SEMA3A ENST00000424555 r.? - - Del intronic D 83892662 83892673 7 32 538.44 - - 1 1 1 SEMA3A|ENST00000424555|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SEMA3A|ENST00000424555|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 3 7 3 8 19 36 19 36 3 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728068780 7 85243535 TA T 360 PASS - - - - - Del - D 85243535 85243541 1 16 320.776 - - 5 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 3 8 4 28 35 28 35 8 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728073534 7 102447010 G GT 300 PASS FAM185A CCDS47677.1 r.? - - Ins intronic I 102447010 102447018 1 12 261.393 - - 7 1 1 FAM185A|CCDS47677.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM185A|CCDS47677.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 23 24 23 0 0 ./. 2 3 4 5 26 26 26 26 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728076342 7 112608626 A AT 300 PASS - - - - - Ins - I 112608626 112608631 1 12 266.812 - - 4 1 1 - - ./. 0 0 0 0 10 8 11 8 0 0 ./. 3 2 4 4 21 26 21 27 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728076716 7 114331298 AT A 389 PASS FOXP2 CCDS43635.1 r.3915delU c.? p.? Del 3'UTR variant D 114331298 114331306 1 20 377.751 - - 7 1 1 FOXP2|CCDS43635.1|r.3915delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 FOXP2|CCDS43635.1|r.3915delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 3 4 5 15 30 15 30 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728077930 7 119259757 TGTTTGGAGAGAATGAG T 261 PASS - - - - - Del - D 119259757 119259777 16 30 485.679 - - 1 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 4 5 4 4 23 25 23 26 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728082322 7 133820376 T TG 420 PASS LRGUK CCDS5830.1 r.? - - Ins intronic I 133820376 133820381 1 18 372.332 - - 4 1 1 LRGUK|CCDS5830.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRGUK|CCDS5830.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 21 14 21 0 0 ./. 2 5 3 9 19 22 19 22 3 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728082979 7 135690978 TC T 420 PASS - - - - - Del - D 135690978 135690980 1 20 377.148 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 3 6 4 30 17 30 17 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728083054 7 135965203 A AT 360 PASS - - - - - Ins - I 135965203 135965212 1 12 312.949 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 1 6 4 20 19 21 19 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728087262 7 150966860 GGCGCTCGGTGAAC G 290 PASS SMARCD3 CCDS5924.1 r.? - - Del intronic D 150966860 150966876 13 32 537.837 - - 1 1 1 SMARCD3|CCDS5924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMARCD3|CCDS5924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 7 3 7 22 22 22 22 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728090767 8 2454264 AT A 300 PASS AC104021.1 ENST00000515276 r.? - - Del intronic D 2454264 2454273 1 10 270.26 - - 8 1 1 AC104021.1|ENST00000515276|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC104021.1|ENST00000515276|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 1 4 4 5 18 27 18 27 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728091955 8 5643878 GC G 689 PASS - - - - - Del - D 5643878 5643880 1 49 646.216 - - 1 1 1 - - ./. 0 0 0 0 21 11 21 11 0 0 ./. 6 6 9 6 30 24 30 24 9 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728093155 8 9508505 AAAGT A 449 PASS TNKS CCDS5974.1 r.? - - Del intronic D 9508505 9508510 4 24 430.61 - - 1 1 1 TNKS|CCDS5974.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNKS|CCDS5974.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 5 5 10 18 24 18 24 5 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728096911 8 20736775 AG A 420 PASS - - - - - Del - D 20736775 20736777 1 20 378.364 - - 1 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 3 4 5 4 19 33 19 33 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728101136 8 33910820 AAAT A 269 PASS - - - - - Del - D 33910820 33910827 3 10 270.26 - - 2 1 1 - - ./. 0 0 0 0 25 12 25 12 0 0 ./. 4 1 7 2 42 24 42 24 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728101153 8 34031324 AAG A 360 PASS - - - - - Del - D 34031324 34031344 2 15 320.097 - - 9 1 - - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 4 2 5 3 32 25 32 25 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728101521 8 35521160 ATGG A 420 PASS UNC5D CCDS6093.2 r.? - - Del intronic D 35521160 35521166 3 20 378.364 - - 1 1 1 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 4 4 5 32 32 32 32 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728101927 8 37361095 CGT C 300 PASS - - - - - Del - D 37361095 37361112 2 10 270.26 - - 8 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 1 4 1 26 38 26 38 4 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728102017 8 37740519 CCAAA C 449 PASS RAB11FIP1 CCDS34882.1 r.? - - Del intronic D 37740519 37740526 4 25 430.008 - - 1 1 1 RAB11FIP1|CCDS34882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB11FIP1|CCDS34882.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 4 6 4 29 28 29 28 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728103467 8 42067368 C CA 660 PASS PLAT CCDS6126.1 r.? - - Ins upstream I 42067368 42067375 1 42 587.347 - - 6 1 1 PLAT|CCDS6126.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 PLAT|CCDS6126.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 10 13 10 0 0 ./. 5 6 8 9 37 36 37 36 8 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728105710 8 53259543 CTG C 420 PASS ST18 CCDS6149.1 r.? - - Del intronic D 53259543 53259548 2 18 378.364 - - 2 1 1 ST18|CCDS6149.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ST18|CCDS6149.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 2 8 3 22 26 22 26 8 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728105976 8 54107169 CAGTTA C 387 PASS - - - - - Del - D 54107169 54107178 5 21 431.814 - - 1 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 2 6 2 7 20 28 20 28 2 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728106572 8 55766392 G GAGAGAGAGAAAGAAAGAGAAAGGAAGGAAGAGAAAC 480 PASS - - - - - Ins - I 55766392 55766400 36 25 259.023 - - 0 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 4 4 0 0 35 26 36 28 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728107647 8 59805862 GATA G 360 PASS TOX CCDS34897.1 r.? - - Del intronic D 59805862 59805869 3 16 324.312 - - 2 1 1 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TOX|CCDS34897.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 18 9 18 0 0 ./. 3 3 5 4 31 36 31 36 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728107727 8 60143786 TAAA T 300 PASS - - - - - Del - D 60143786 60143793 3 12 270.26 - - 6 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 3 5 29 34 29 34 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728109027 8 64492104 AT A 540 PASS - - - - - Del - D 64492104 64492114 1 30 486.468 - - 9 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 5 6 5 23 45 23 45 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728111113 8 72178244 AC A 660 PASS EYA1 CCDS34906.1 r.? - - Del intronic D 72178244 72178246 1 42 594.572 - - 1 1 1 EYA1|CCDS34906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYA1|CCDS34906.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 6 5 9 7 28 31 28 31 9 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728111297 8 72933886 GTGGAGGTAACCAAGC G 261 PASS TRPA1 CCDS34908.1 r.4775_4789delGCUUGGUUACCUCCA c.? p.? Del 3'UTR variant D 72933886 72933904 15 30 486.468 - - 1 1 1 TRPA1|CCDS34908.1|r.4775_4789delGCUUGGUUACCUCCA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TRPA1|CCDS34908.1|r.4775_4789delGCUUGGUUACCUCCA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 5 4 5 24 18 24 18 4 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728114253 8 83577214 A ATGTGATTAAT 261 PASS - - - - - Ins - I 83577214 83577227 10 30 429.272 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 4 4 4 30 40 31 41 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728114760 8 85315879 TA T 343 PASS - - - - - Del - D 85315879 85315881 1 15 320.7 - - 1 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 2 4 4 4 25 30 25 30 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728115410 8 87553203 AAAAATATAT A 319 PASS CPNE3 CCDS6243.1 r.? - - Del intronic D 87553203 87553214 9 40 594.572 - - 1 1 1 CPNE3|CCDS6243.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPNE3|CCDS6243.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 7 4 7 4 30 25 30 25 7 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728116737 8 92643477 AC A 540 PASS - - - - - Del - D 92643477 92643479 1 24 486.468 - - 1 1 1 - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 2 7 2 7 25 33 25 33 2 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728117109 8 94155237 TA T 420 PASS - - - - - Del - D 94155237 94155239 1 20 375.354 - - 1 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 3 4 5 5 33 31 33 31 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728118647 8 98895023 CT C 540 PASS MATN2 ENST00000254898 r.? - - Del intronic D 98895023 98895028 1 30 485.264 - - 4 1 1 MATN2|ENST00000254898|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MATN2|ENST00000254898|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 4 6 5 33 44 33 44 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728118819 8 99367302 ACCTG A 418 PASS - - - - - Del - D 99367302 99367309 4 21 432.416 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 6 2 8 4 34 22 34 22 8 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728119668 8 102357402 TGGCA T 449 PASS - - - - - Del - D 102357402 102357408 4 25 432.416 - - 1 1 1 - - ./. 0 0 0 0 21 8 21 8 0 0 ./. 4 4 4 6 41 21 41 21 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728120785 8 106062917 AG A 600 PASS - - - - - Del - D 106062917 106062919 1 36 539.316 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 5 5 6 38 35 38 35 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728120968 8 106721046 C CA 540 PASS ZFPM2 CCDS47908.1 r.? - - Ins intronic I 106721046 106721052 1 30 481.049 - - 5 1 1 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 4 5 5 5 39 29 39 30 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728121051 8 107086099 GA G 480 PASS - - - - - Del - D 107086099 107086101 1 24 431.212 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 5 4 7 29 31 29 31 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728121558 8 108612470 C CG 480 PASS - - - - - Ins - I 108612470 108612471 1 24 427.599 - - 0 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 3 5 6 26 34 26 34 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728121959 8 110186156 GTGATC G 478 PASS - - - - - Del - D 110186156 110186164 5 28 486.468 - - 1 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 6 3 6 4 36 20 36 20 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728122076 8 110626093 TA T 540 PASS ENSG00000147642 CCDS47912.1 r.? - - Del intronic D 110626093 110626096 1 30 486.468 - - 2 1 1 ENSG00000147642|CCDS47912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000147642|CCDS47912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 5 4 5 4 29 27 29 27 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728122945 8 114030638 CTTACTATTCCCTGAAAAGTAGCTGATACACTACTGAGAATGAAATGAATTATTTACATAAGTAGTCTGAAGATAAAGTACACTAAGCTCACATAGTATTACAGAACATTGTAGAAGCTACATTTTCATTAGTACTCCATCTTCATAATAATCTTGTTCCAAAGAGTTTTTCAAGTTAATGCATCAAATATTATATCCTATGTATTGAAAATTATTTATGTTAACACAATTGGTAGATAAAACTCCTAACAAGGTTAATTAAACTAGCAGTAACAAACATGCTGCATATGGAGGTGAGT C 348 PASS CSMD3 CCDS6315.1 r.? - - Del intronic D 114030638 114030939 298 45 639.593 - - 1 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 10 24 10 0 0 ./. 4 8 0 0 27 28 31 36 4 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728123292 8 115189233 C CAA 298 PASS - - - - - Ins - I 115189233 115189237 2 15 317.087 - - 3 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 4 2 7 24 27 24 27 2 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728123709 8 116750517 GTGTCACTGTGCTGTATA G 319 PASS TRPS1 ENST00000422939 r.? - - Del intronic D 116750517 116750539 17 42 594.572 - - 1 1 1 TRPS1|ENST00000422939|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRPS1|ENST00000422939|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 6 4 6 15 32 16 32 5 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728124419 8 119175290 ACCT A 809 PASS - - - - - Del - D 119175290 119175297 3 63 751.911 - - 2 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 8 9 8 46 34 46 34 9 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728124531 8 119491571 GA G 420 PASS SAMD12 CCDS47913.1 r.? - - Del intronic D 119491571 119491577 1 20 378.364 - - 5 1 1 SAMD12|CCDS47913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SAMD12|CCDS47913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 21 18 21 0 0 ./. 4 3 7 8 33 27 33 27 7 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728127399 8 129303071 CTT C 540 PASS - - - - - Del - D 129303071 129303080 2 30 486.468 - - 8 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 5 6 9 31 47 31 47 6 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728127400 8 129303982 ATTT A 718 PASS - - - - - Del - D 129303982 129303989 3 54 702.074 - - 6 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 8 6 9 33 31 33 31 6 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728129300 8 136723181 GCTGGTCTCAAACTC G 319 PASS - - - - - Del - D 136723181 136723200 14 42 593.368 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 6 6 6 24 17 24 17 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728130466 8 140203253 TACTTCCAACCACCAGAA T 319 PASS - - - - - Del - D 140203253 140203276 17 42 594.572 - - 1 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 6 5 6 5 29 30 29 30 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728132271 9 831994 GC G 866 PASS - - - - - Del - D 831994 832000 1 70 805.83 - - 5 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 9 6 11 9 25 18 25 18 11 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728133528 9 4883684 GTGCTCAGTAAA G 609 PASS - - - - - Del - D 4883684 4883698 11 126 1135.15 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 8 13 8 13 31 32 32 32 9 13 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728133641 9 5494618 G GT 660 PASS - - - - - Ins - I 5494618 5494628 1 40 575.649 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 7 8 13 24 38 24 38 8 13 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728135019 9 9681082 AAGCATATGTTAGAGTCAAATAAATATTTCTAAAAAATGGAAATACTCAAAGCCAATT A 435 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 9681082 9681140 57 70 805.228 - - 1 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 9 6 0 0 21 14 30 20 9 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728135262 9 10369008 TA T 300 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 10369008 10369011 1 6 270.416 - - 2 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 0 6 3 34 19 34 19 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728136137 9 12965274 CA C 660 PASS - - - - - Del - D 12965274 12965277 1 42 579.262 - - 2 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 6 5 7 6 19 24 19 24 7 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728136152 9 13023283 GA G 300 PASS - - - - - Del - D 13023283 13023288 1 12 269.814 - - 4 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 3 4 20 22 20 22 3 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728136300 9 13670996 TGCCTCA T 348 PASS - - - - - Del - D 13670996 13671008 6 49 646.59 - - 1 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 6 6 6 6 15 22 15 22 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728137370 9 16923040 AGGCTG A 625 PASS - - - - - Del - D 16923040 16923049 5 56 700.674 - - 1 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 6 7 8 7 31 30 31 30 8 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728137554 9 17425742 TA T 540 PASS CNTLN CCDS43789.1 r.? - - Del intronic D 17425742 17425750 1 28 486.147 - - 7 1 1 CNTLN|CCDS43789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTLN|CCDS43789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 13 23 13 0 0 ./. 6 3 8 6 25 21 25 21 8 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728139329 9 24981465 ATC A 360 PASS - - - - - Del - D 24981465 24981469 2 15 324.499 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 2 4 3 16 28 16 28 4 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728140007 9 27519605 AAACAGGACACATACCAAACTGAT A 261 PASS MOBKL2B CCDS6520.1 r.? - - Del intronic D 27519605 27519632 23 28 486.749 - - 1 1 1 MOBKL2B|CCDS6520.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MOBKL2B|CCDS6520.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 6 2 3 23 12 24 15 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728140280 9 28451054 GA G 540 PASS LINGO2 CCDS6524.1 r.? - - Del intronic D 28451054 28451061 1 30 486.749 - - 6 1 1 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LINGO2|CCDS6524.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 4 6 6 25 24 25 24 6 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728140645 9 29608729 C CA 300 PASS - - - - - Ins - I 29608729 29608734 1 10 266.202 - - 4 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 1 4 2 6 18 18 19 18 2 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728141280 9 31482223 AG A 540 PASS - - - - - Del - D 31482223 31482225 1 28 486.749 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 6 3 8 39 34 39 34 3 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728148752 9 73491831 CCT C 480 PASS TRPM3 CCDS43835.1 r.? - - Del intronic D 73491831 73491839 2 24 432.064 - - 3 1 1 TRPM3|CCDS43835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPM3|CCDS43835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 3 5 5 33 22 33 22 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728148997 9 74221896 TC T 480 PASS - - - - - Del - D 74221896 74221899 1 16 431.462 - - 2 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 1 10 2 45 28 45 28 10 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728150696 9 79147367 AAAAAT A 298 PASS - - - - - Del - D 79147367 79147378 5 16 324.499 - - 2 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 6 5 29 24 29 24 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728150979 9 80022783 A AT 480 PASS VPS13A CCDS6655.1 r.? - - Ins intronic I 80022783 80022792 1 24 427.849 - - 8 1 1 VPS13A|CCDS6655.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS13A|CCDS6655.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 11 20 11 0 0 ./. 3 5 9 8 29 30 29 31 9 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728151485 9 81747650 AGCCCAATCTTGG A 348 PASS - - - - - Del - D 81747650 81747665 12 33 646.59 - - 1 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 2 10 2 10 31 52 31 52 2 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728153558 9 87989711 CATTGT C 389 PASS - - - - - Del - D 87989711 87989720 5 18 377.98 - - 1 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 5 3 5 25 20 25 20 3 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728153988 9 89412505 C CT 660 PASS - - - - - Ins - I 89412505 89412513 1 36 585.884 - - 7 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 8 3 9 4 42 31 43 32 9 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728155209 9 93226810 TCAC T 300 PASS - - - - - Del - D 93226810 93226814 3 12 269.814 - - 1 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 3 2 3 3 34 24 34 24 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728155797 9 94890808 TGTTG TCA 253 PASS - - - - - Complex - DI 94890809 94890812 4 14 0 - - 0 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 6 1 0 0 30 28 31 28 6 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728157979 9 101258926 TTGTTTTACATTA T 261 PASS GABBR2 CCDS6736.1 r.? - - Del intronic D 101258926 101258940 12 30 483.137 - - 1 1 1 GABBR2|CCDS6736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GABBR2|CCDS6736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 5 4 5 5 32 26 32 26 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728158080 9 101505126 TG T 480 PASS ANKS6 CCDS43856.1 r.? - - Del intronic D 101505126 101505134 1 24 431.462 - - 7 1 1 ANKS6|CCDS43856.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS6|CCDS43856.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 3 5 3 6 19 20 19 20 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728158885 9 104484792 G GAA 385 PASS GRIN3A CCDS6758.1 r.? - - Ins intronic I 104484792 104484797 2 30 471.095 - - 4 1 1 GRIN3A|CCDS6758.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRIN3A|CCDS6758.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 4 6 7 41 28 41 28 6 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728158942 9 104728166 GC G 540 PASS - - - - - Del - D 104728166 104728168 1 30 482.534 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 4 5 5 27 30 27 30 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728158962 9 104774254 CT C 360 PASS - - - - - Del - D 104774254 104774256 1 15 323.897 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 4 3 35 28 35 28 4 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728160951 9 110946297 G GT 300 PASS - - - - - Ins - I 110946297 110946307 1 12 267.406 - - 9 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 2 3 3 43 38 43 38 3 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728161320 9 111966180 AC A 360 PASS EPB41L4B CCDS43859.1 r.? - - Del intronic D 111966180 111966182 1 15 323.897 - - 1 1 1 EPB41L4B|CCDS43859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPB41L4B|CCDS43859.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 2 4 4 4 25 41 25 41 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728161765 9 113259525 CT C 540 PASS SVEP1 CCDS48004.1 r.? - - Del intronic D 113259525 113259530 1 30 481.33 - - 4 1 1 SVEP1|CCDS48004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SVEP1|CCDS48004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 4 5 6 7 38 41 38 41 6 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728162933 9 115568471 CAAAAATGTCTCCAGACATTGCCAAATGTTCCCTGGGGGACAGGATTGCCACCCCACCCCCGACCAGTTGAAAGCCACATATTTAGAGGAAGAATGACAATATTGACATTATTAGGGAGAGAATTCACATTATCACTTTGTATCTTGGGAT C 261 PASS SNX30 CCDS43865.1 r.? - - Del intronic D 115568471 115568627 150 28 486.749 - - 1 1 1 SNX30|CCDS43865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX30|CCDS43865.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 6 0 0 28 30 31 36 3 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728164404 9 119640467 AC A 480 PASS ASTN2 CCDS48009.1 r.? - - Del intronic D 119640467 119640473 1 24 432.666 - - 5 1 1 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 5 3 6 3 27 36 27 36 6 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728165391 9 122619889 CT C 600 PASS - - - - - Del - D 122619889 122619894 1 32 540.832 - - 4 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 7 4 7 33 36 33 36 4 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728168886 9 133071186 GA G 300 PASS ENSG00000230938 ENST00000415566 r.? - - Del intronic D 133071186 133071191 1 10 269.814 - - 4 1 1 ENSG00000230938|ENST00000415566|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000230938|ENST00000415566|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 1 4 1 4 17 23 17 23 1 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728171288 X 2780528 GC G 360 PASS GYG2 CCDS14121.1 r.? - - Del intronic D 2780528 2780534 1 16 323.844 - - 5 1 1 GYG2|CCDS14121.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GYG2|CCDS14121.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 3 5 3 21 28 21 28 5 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728172788 X 7276915 GA G 420 PASS STS CCDS14127.1 r.? - - Del downstream D 7276915 7276922 1 20 378.621 - - 6 1 1 STS|CCDS14127.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 STS|CCDS14127.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 27 13 27 0 0 ./. 3 4 8 5 35 30 35 30 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728173446 X 10368792 G GA 300 PASS - - - - - Ins - I 10368792 10368802 1 10 267.863 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 6 4 20 35 20 35 6 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728173463 X 10506499 GTCCACACATGGCCGTCAACGTAA G 348 PASS MID1 CCDS14138.1 r.? - - Del intronic D 10506499 10506525 23 40 650.096 - - 1 1 1 MID1|CCDS14138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MID1|CCDS14138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 9 3 8 2 28 25 29 26 9 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728174404 X 14180718 CATT C 720 PASS - - - - - Del - D 14180718 14180724 3 45 650.096 - - 1 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 4 8 5 10 32 35 32 35 5 10 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728174806 X 16133591 CA C 300 PASS - - - - - Del - D 16133591 16133597 1 12 270.873 - - 5 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 2 4 6 38 25 38 25 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728174807 X 16134075 CT C 480 PASS - - - - - Del - D 16134075 16134081 1 25 431.591 - - 5 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 4 5 5 39 20 39 20 5 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728177263 X 26964241 CTCCA C 447 PASS - - - - - Del - D 26964241 26964251 4 24 487.572 - - 2 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 7 2 7 2 32 23 32 23 7 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728177309 X 27135017 TAACAATACTGGTTAAA T 261 PASS - - - - - Del - D 27135017 27135034 16 18 487.572 - - 1 1 1 - - ./. 0 0 0 0 3 11 3 11 0 0 ./. 1 8 1 7 8 30 8 31 1 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728177627 X 28443549 TGCTTGGTTGTGTCTATTGTA T 261 PASS - - - - - Del - D 28443549 28443573 20 24 484.562 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 7 3 6 24 22 24 23 3 7 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728177946 X 29649156 TC T 360 PASS IL1RAPL1 CCDS14218.1 r.? - - Del intronic D 29649156 29649159 1 15 325.048 - - 2 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 2 6 9 24 24 24 24 6 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728178218 X 30910903 AGTCCT A 658 PASS TAB3 CCDS14226.1 r.? - - Del intronic D 30910903 30910911 5 45 650.096 - - 1 1 1 TAB3|CCDS14226.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TAB3|CCDS14226.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 17 4 17 0 0 ./. 4 8 4 9 24 25 24 25 4 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728179470 X 36315965 AC A 296 PASS CXorf30 ENST00000378653 r.? - - Del intronic D 36315965 36315967 1 20 379.223 - - 1 1 1 CXorf30|ENST00000378653|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CXorf30|ENST00000378653|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 4 3 5 4 28 13 28 13 5 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728182285 X 50175599 GA G 300 PASS - - - - - Del - D 50175599 50175603 1 12 270.873 - - 3 1 1 - - ./. 0 0 0 0 10 22 10 22 0 0 ./. 3 2 9 3 22 22 22 22 9 3 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728182514 X 51309564 CTCACAA C 319 PASS - - - - - Del - D 51309564 51309574 6 40 589.901 - - 1 1 1 - - ./. 0 0 0 0 16 23 16 23 0 0 ./. 7 4 8 5 23 27 23 27 8 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728183780 X 62631542 TTTCTTAAAGCACCAACCTGCTC T 290 PASS - - - - - Del - D 62631542 62631567 22 35 541.747 - - 1 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 4 6 4 5 21 19 21 20 4 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728183796 X 62825855 AG A 360 PASS - - - - - Del - D 62825855 62825857 1 15 325.048 - - 1 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 4 2 4 22 22 22 22 2 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728188540 X 86710475 TGGACCTCTGAATAGA T 290 PASS - - - - - Del - D 86710475 86710491 15 27 535.726 - - 1 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 2 8 2 8 20 29 20 29 2 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728188883 X 88379867 TGA T 600 PASS - - - - - Del - D 88379867 88379871 2 27 541.747 - - 1 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 8 3 8 22 28 22 28 3 8 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728189462 X 91101460 C CA 269 PASS PCDH11X CCDS14461.1 r.? - - Ins intronic I 91101460 91101468 1 12 267.863 - - 7 1 1 PCDH11X|CCDS14461.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCDH11X|CCDS14461.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 2 6 2 23 20 23 20 6 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728191585 X 100833299 TC T 840 PASS - - - - - Del - D 100833299 100833301 1 63 756.639 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 6 8 10 9 34 30 34 30 10 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728192474 X 106019947 AT A 420 PASS RNF128 CCDS14521.1 r.? - - Del intronic D 106019947 106019957 1 20 378.019 - - 9 1 1 RNF128|CCDS14521.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF128|CCDS14521.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 4 4 4 20 32 20 32 4 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728192475 X 106020289 A ATT 778 PASS RNF128 CCDS14521.1 r.? - - Ins intronic I 106020289 106020298 2 55 741.588 - - 8 1 1 RNF128|CCDS14521.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF128|CCDS14521.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 10 4 13 4 32 29 32 29 13 4 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728192476 X 106020552 GGGAATAAAT G 319 PASS RNF128 CCDS14521.1 r.? - - Del intronic D 106020552 106020565 9 42 595.922 - - 1 1 1 RNF128|CCDS14521.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF128|CCDS14521.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 6 5 6 5 22 19 22 19 6 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728193243 X 111314331 AC A 600 PASS TRPC5 CCDS14561.1 r.? - - Del intronic D 111314331 111314338 1 20 539.941 - - 6 1 1 TRPC5|CCDS14561.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRPC5|CCDS14561.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 1 9 1 11 3 24 3 24 1 11 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728193726 X 113571534 GT G 360 PASS - - - - - Del - D 113571534 113571538 1 12 325.048 - - 3 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 1 6 1 27 16 27 16 6 1 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728197033 X 127523253 TC T 360 PASS - - - - - Del - D 127523253 127523255 1 12 324.446 - - 1 1 1 - - ./. 0 0 0 0 2 15 2 15 0 0 ./. 1 5 1 5 10 28 10 28 1 5 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728197911 X 132003730 GATAAAATTCAACATGCCTTCATGCTAAAAACTCTCAATAAACTAGGTATTGATGGAATGTATCTCAAAATAACAAGAGCTATTTAGTACAAACCCACAGCCAATATCATAATGAATGGGCAAAAGCTGGAAGGATTCCCTCTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCAACACTTCTATTCAACATAGTATTGGAAGTTCTGGCCAGGGAAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAAATAGGAAGAGAGGAAGTCGAATTGTCTCTGTTTGCAGATGACATGATTGTATATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTAATAAACAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGTAAAA G 319 PASS HS6ST2 CCDS48169.1 r.? - - Del intronic D 132003730 132004127 394 30 595.922 - - 1 1 1 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 16 23 16 0 0 ./. 9 2 0 0 25 17 34 19 9 2 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728197912 X 132005286 TA T 989 PASS HS6ST2 CCDS48169.1 r.? - - Del intronic D 132005286 132005291 1 88 920.97 - - 4 1 1 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 10 7 12 9 39 22 39 22 12 9 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728201646 X 147014047 GAA G 300 PASS FMR1 CCDS14682.1 r.863_864delAA c.735_736delAA p.K246fs*8 Del frameshift D 147014047 147014052 2 10 270.873 - - 4 1 1 FMR1|CCDS14682.1|r.863_864delAA|c.735_736delAA|p.K246fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 FMR1|CCDS14682.1|r.863_864delAA|c.735_736delAA|p.K246fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 4 1 6 25 32 25 32 1 6 1 1 1 1 1 1 1 1 2662719 PD18237a PD18237b 2728202643 X 152174430 AAG A 269 PASS - - - - - Del - D 152174430 152174445 2 12 270.873 - - 7 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 3 2 3 26 23 26 23 2 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709727558 1 21215118 TAGGCA T 358 PASS EIF4G3 CCDS214.1 r.? - - Del intronic D 21215118 21215126 5 18 375.608 - - 1 1 1 EIF4G3|CCDS214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF4G3|CCDS214.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 2 6 6 24 24 24 24 6 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709731947 1 34389046 G GATGCCA 522 PASS CSMD2 CCDS380.1 r.? - - Ins intronic I 34389046 34389059 6 100 898.418 - - 2 1 1 CSMD2|CCDS380.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD2|CCDS380.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 5 5 5 0 0 ./. 9 9 10 9 24 29 24 29 10 9 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709738623 1 59302693 CTT C 480 PASS - - - - - Del - D 59302693 59302698 2 24 428.664 - - 4 1 1 - - ./. 0 0 0 0 4 6 4 6 0 0 ./. 5 3 7 4 22 16 22 16 7 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709748164 1 93962446 CAA C 540 PASS FNBP1L ENST00000370253 r.? - - Del intronic D 93962446 93962449 2 28 482.323 - - 2 1 1 FNBP1L|ENST00000370253|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FNBP1L|ENST00000370253|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 6 3 8 3 17 18 17 18 8 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709754937 1 118528344 T TA 300 PASS SPAG17 CCDS899.1 r.? - - Ins intronic I 118528344 118528351 1 12 265.281 - - 6 1 1 SPAG17|CCDS899.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPAG17|CCDS899.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 6 4 6 0 0 ./. 2 3 2 6 24 23 24 24 2 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709756510 1 142804299 AT A 290 PASS - - - - - Del - D 142804299 142804307 1 11 535.981 - - 7 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 10 0 12 0 194 192 194 192 12 0 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709758586 1 146657186 T TA 780 PASS FMO5 CCDS926.1 r.? - - Ins downstream I 146657186 146657188 1 54 689.731 - - 1 1 1 FMO5|CCDS926.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 FMO5|CCDS44209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 8 5 9 5 34 41 34 41 9 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709766363 1 168090244 G GA 360 PASS GPR161 CCDS1268.1 r.? - - Ins intronic I 168090244 168090253 1 16 318.337 - - 8 1 1 GPR161|CCDS1268.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GPR161|CCDS1268.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 3 3 5 6 37 37 38 37 5 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709770124 1 180383161 GTACATTTTTC G 377 PASS ACBD6 CCDS1339.1 r.? - - Del intronic D 180383161 180383174 10 56 697.558 - - 1 1 1 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 7 6 8 26 33 26 33 6 8 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709773199 1 190077934 G GA 720 PASS FAM5C CCDS1373.1 r.? - - Ins intronic I 190077934 190077943 1 48 629.45 - - 8 1 1 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 7 5 8 6 38 25 38 26 8 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709775377 1 197667183 TC T 360 PASS DENND1B CCDS44289.1 r.? - - Del intronic D 197667183 197667185 1 16 321.95 - - 1 1 1 DENND1B|CCDS44289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DENND1B|CCDS44289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 4 7 4 0 0 ./. 3 3 4 6 22 29 22 29 4 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709778558 1 206765481 AC A 360 PASS RASSF5 CCDS1464.1 r.? - - Del downstream D 206765481 206765483 1 15 321.95 - - 1 1 1 RASSF5|CCDS1464.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LGTN|CCDS1465.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 23 28 23 0 0 ./. 2 4 3 5 28 33 28 33 3 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709782477 1 219410859 CATCTCAGAGCAGTAA C 406 PASS - - - - - Del - D 219410859 219410875 15 60 748.206 - - 1 1 1 - - ./. 0 0 0 0 35 32 35 32 0 0 ./. 5 9 6 9 25 20 26 20 7 9 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709784094 1 224456408 TG T 1200 PASS NVL CCDS1541.1 r.? - - Del intronic D 224456408 224456411 1 57 1073.17 - - 2 1 1 NVL|CCDS1541.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NVL|CCDS1541.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 18 2 24 3 41 20 41 20 24 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709784161 1 224577221 AG A 480 PASS WDR26 CCDS31037.1 r.2207delC c.? p.? Del 3'UTR variant D 224577221 224577223 1 24 429.266 - - 1 1 1 WDR26|CCDS31037.1|r.2207delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 WDR26|CCDS31037.1|r.2207delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 3 6 4 27 31 27 31 6 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709786280 1 230709847 A AC 300 PASS - - - - - Ins - I 230709847 230709851 1 12 263.475 - - 3 1 1 - - ./. 0 0 0 0 7 3 7 3 0 0 ./. 2 3 2 3 25 27 25 27 2 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709809199 10 48310561 TC T 360 PASS - - - - - Del - D 48310561 48310564 1 16 322.738 - - 2 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 3 6 3 25 21 25 21 6 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709826291 10 107747948 T TG 300 PASS - - - - - Ins - I 107747948 107747951 1 12 266.44 - - 2 1 1 - - ./. 0 0 0 0 13 1 13 1 0 0 ./. 3 2 4 3 32 23 33 23 4 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709835348 11 2165703 GT G 358 PASS IGF2 CCDS7728.1 r.? - - Del intronic D 2165703 2165707 1 20 374.182 - - 3 1 1 IGF2|CCDS7728.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IGF2|CCDS7728.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 48 29 48 0 0 ./. 4 3 5 7 15 26 15 26 5 7 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709844852 11 32756259 C CA 288 PASS CCDC73 CCDS41630.1 r.? - - Ins intronic I 32756259 32756267 1 35 533.685 - - 7 1 1 CCDC73|CCDS41630.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC73|CCDS41630.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 5 28 6 0 0 ./. 6 4 9 4 33 30 33 31 9 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709850933 11 57281396 T TC 420 PASS SLC43A1 CCDS7958.1 r.? - - Ins intronic I 57281396 57281403 1 20 362.14 - - 6 1 1 SLC43A1|CCDS7958.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC43A1|CCDS7958.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 31 20 31 21 0 0 ./. 3 4 5 4 23 22 23 22 5 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709869877 11 122871345 G GT 298 PASS - - - - - Ins - I 122871345 122871347 1 15 320.211 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 2 5 3 22 12 22 12 5 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709882735 12 28415864 CCTCT C 838 PASS CCDC91 CCDS8716.1 r.? - - Del intronic D 28415864 28415871 4 60 808.183 - - 3 1 1 CCDC91|CCDS8716.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC91|CCDS8716.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 11 4 11 5 25 18 25 18 11 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709885780 12 40424321 GTTTCA G 716 PASS SLC2A13 CCDS8736.2 r.? - - Del intronic D 40424321 40424330 5 63 755.428 - - 1 1 1 SLC2A13|CCDS8736.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC2A13|CCDS8736.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 8 6 9 6 28 20 28 20 9 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709911097 12 127986438 TG T 360 PASS - - - - - Del - D 127986438 127986443 1 15 323.755 - - 4 1 1 - - ./. 0 0 0 0 4 8 4 8 0 0 ./. 2 4 4 4 16 10 16 10 4 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709911656 12 129315301 AAG A 300 PASS - - - - - Del - D 129315301 129315318 2 12 269.796 - - 8 1 1 - - ./. 0 0 0 0 27 13 27 13 0 0 ./. 3 2 3 2 36 31 36 31 3 2 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709913120 12 133240338 G GT 420 PASS POLE CCDS9278.1 r.? - - Ins intronic I 133240338 133240340 1 20 373.5 - - 1 1 1 POLE|CCDS9278.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 POLE|CCDS9278.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 42 46 42 47 0 0 ./. 4 3 4 5 21 32 21 32 4 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709917137 13 27887629 ATT A 720 PASS - - - - - Del - D 27887629 27887635 2 40 649.585 - - 5 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 9 4 12 23 27 23 27 4 12 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709917244 13 28119594 AG A 300 PASS LNX2 CCDS9323.1 r.? - - Del downstream D 28119594 28119597 1 10 270.058 - - 2 1 1 LNX2|CCDS9323.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 LNX2|CCDS9323.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 4 9 4 9 0 0 ./. 4 1 5 2 24 20 24 20 5 2 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709917567 13 28872083 GTC G 540 PASS FLT1 CCDS9330.1 r.? - - Del downstream D 28872083 28872087 2 30 486.587 - - 1 1 1 FLT1|CCDS9330.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FLT1|CCDS9330.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 5 4 5 19 21 19 21 4 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709948499 14 35565506 GC G 538 PASS PPP2R3C CCDS9654.1 r.? - - Del intronic D 35565506 35565509 1 36 537.762 - - 2 1 1 PPP2R3C|CCDS9654.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP2R3C|CCDS9654.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 5 6 6 25 20 25 20 6 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709960573 14 75059234 C CA 269 PASS LTBP2 CCDS9831.1 r.? - - Ins intronic I 75059234 75059243 1 12 267.677 - - 8 1 1 LTBP2|CCDS9831.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LTBP2|CCDS9831.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 18 5 18 0 0 ./. 2 3 4 6 20 31 20 31 4 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709975107 15 33592435 TCA T 420 PASS - - - - - Del - D 33592435 33592438 2 18 379.107 - - 1 1 1 - - ./. 0 0 0 0 31 37 31 37 0 0 ./. 5 2 6 6 16 20 16 20 6 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709975477 15 34341310 C CA 300 PASS CHRM5 CCDS10031.1 r.? - - Ins intronic I 34341310 34341316 1 12 267.781 - - 5 1 1 CHRM5|CCDS10031.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CHRM5|CCDS10031.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 2 3 3 26 22 26 22 3 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709993661 15 94720877 TTC T 300 PASS - - - - - Del - D 94720877 94720897 2 10 264.168 - - 9 1 - - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 1 4 1 26 24 26 24 4 1 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2709995047 15 99386741 GTAGT G 449 PASS IGF1R CCDS10378.1 r.? - - Del intronic D 99386741 99386751 4 25 433.266 - - 2 1 1 IGF1R|CCDS10378.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGF1R|CCDS10378.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 3 7 3 0 0 ./. 4 4 5 5 17 36 17 36 5 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710025161 17 8422683 AG A 360 PASS MYH10 CCDS11144.1 r.? - - Del intronic D 8422683 8422686 1 12 323.016 - - 2 1 1 MYH10|CCDS11144.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYH10|CCDS11144.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 5 5 5 23 28 23 28 5 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710058294 18 27626969 A ACAT 509 PASS - - - - - Ins - I 27626969 27626970 3 30 469.812 - - 0 1 1 - - ./. 0 0 0 0 3 7 3 7 0 0 ./. 4 5 0 0 19 19 20 19 4 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710071472 18 74660200 TC T 300 PASS ZNF236 CCDS42447.1 r.? - - Del intronic D 74660200 74660202 1 10 271.041 - - 1 1 1 ZNF236|CCDS42447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF236|CCDS42447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 19 24 19 0 0 ./. 4 1 9 1 31 16 31 16 9 1 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710096980 2 5594553 CGTT C 569 PASS - - - - - Del - D 5594553 5594559 3 36 537.287 - - 1 1 1 - - ./. 0 0 0 0 18 26 18 26 0 0 ./. 5 5 6 6 31 21 31 21 6 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710097271 2 6621780 TATAGAGTCAA T 261 PASS - - - - - Del - D 6621780 6621792 10 10 482.354 - - 1 1 1 - - ./. 0 0 0 0 43 35 43 35 0 0 ./. 0 9 0 9 21 29 21 29 0 9 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710110716 2 53635426 A AT 420 PASS - - - - - Ins - I 53635426 53635432 1 20 371.887 - - 5 1 1 - - ./. 0 0 0 0 7 7 7 9 0 0 ./. 3 4 5 5 21 22 21 23 5 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710132615 2 133101616 C CTT 443 PASS - - - - - Ins - I 133101616 133101617 2 40 574.76 - - 0 1 1 - - ./. 0 0 0 0 5 7 5 8 0 0 ./. 4 7 0 0 27 32 28 34 4 7 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710133455 2 136399785 A AG 300 PASS R3HDM1 CCDS2177.1 r.? - - Ins intronic I 136399785 136399792 1 10 265.031 - - 6 1 1 R3HDM1|CCDS2177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 R3HDM1|CCDS2177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 4 1 5 1 29 14 29 14 5 1 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710135425 2 142963385 TGGC TA 449 PASS - - - - - Complex - DI 142963386 142963388 3 25 0 - - 0 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 4 0 0 17 31 17 31 4 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710144891 2 178929571 C CT 300 PASS PDE11A CCDS42786.1 r.? - - Ins intronic I 178929571 178929581 1 12 265.633 - - 9 1 1 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 3 3 36 23 36 24 3 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710162553 2 240991030 A AT 480 PASS - - - - - Ins - I 240991030 240991038 1 25 425.013 - - 7 1 1 - - ./. 0 0 0 0 27 26 27 26 0 0 ./. 4 4 5 6 26 29 26 29 5 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710172503 20 30339125 T TA 600 PASS TPX2 CCDS13190.1 r.? - - Ins intronic I 30339125 30339127 1 36 532.414 - - 1 1 1 TPX2|CCDS13190.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TPX2|CCDS13190.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 5 6 6 26 23 27 23 6 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710179594 20 53406490 T TA 480 PASS - - - - - Ins - I 53406490 53406499 1 21 428.099 - - 8 1 1 - - ./. 0 0 0 0 24 20 24 21 0 0 ./. 6 2 9 2 27 29 27 29 9 2 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710181052 20 58578025 T TA 300 PASS CDH26 CCDS13485.1 r.? - - Ins intronic I 58578025 58578035 1 12 267.11 - - 9 1 1 CDH26|CCDS13485.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDH26|CCDS13485.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 3 2 3 22 32 22 33 2 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710183850 21 10138572 GT G 407 PASS - - - - - Del - D 10138572 10138575 1 42 597.842 - - 2 1 1 - - ./. 0 0 0 0 22 7 22 7 0 0 ./. 5 6 12 8 208 111 208 111 12 8 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710184187 21 10618773 T TGGTGTATATACACACATATGCATATA 355 PASS - - - - - Ins - I 10618773 10618774 26 16 231.572 - - 0 1 - - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 3 0 0 59 47 60 49 3 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710184646 21 10828742 A AGAATGGACTGGAATGGAATGGAATGCAACCGAAAG 319 PASS - - - - - Ins - I 10828742 10828765 35 42 366.049 - - 0 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 6 0 0 27 43 29 44 5 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710184962 21 11056767 AT A 954 PASS - - - - - Del - D 11056767 11056769 1 108 1032.64 - - 1 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 8 11 0 0 199 179 199 179 8 11 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710188990 21 23980929 A AT 420 PASS - - - - - Ins - I 23980929 23980936 1 14 376.23 - - 6 1 1 - - ./. 0 0 0 0 2 11 2 11 0 0 ./. 6 1 6 2 30 25 30 25 6 2 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710206535 22 42860157 G GA 300 PASS - - - - - Ins - I 42860157 42860167 1 10 269.018 - - 9 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 4 1 6 1 25 27 25 27 6 1 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710210184 3 1682518 CG C 660 PASS - - - - - Del - D 1682518 1682520 1 42 592.269 - - 1 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 6 5 6 6 31 28 31 28 6 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710219243 3 33712275 GT G 360 PASS CLASP2 ENST00000307312 r.? - - Del intronic D 33712275 33712277 1 15 323.056 - - 1 1 1 CLASP2|ENST00000307312|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CLASP2|ENST00000307312|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 12 21 12 0 0 ./. 2 4 2 6 23 22 23 22 2 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710221245 3 41961098 T TA 360 PASS ULK4 CCDS43071.1 r.? - - Ins intronic I 41961098 41961108 1 15 315.831 - - 9 1 1 ULK4|CCDS43071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ULK4|CCDS43071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 22 18 22 0 0 ./. 2 4 3 6 22 36 22 36 3 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710236195 3 96424738 G GA 300 PASS - - - - - Ins - I 96424738 96424748 1 12 261.989 - - 9 1 1 - - ./. 0 0 0 0 8 4 8 5 0 0 ./. 2 3 2 3 25 19 25 19 2 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710240707 3 112012143 ATC A 449 PASS SLC9A10 CCDS33817.1 r.? - - Del intronic D 112012143 112012150 2 21 425.925 - - 3 1 - SLC9A10|CCDS33817.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC9A10|CCDS33817.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 18 21 18 0 0 ./. 2 6 4 6 23 26 23 26 4 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710240980 3 112932157 C CAGCACACA 261 PASS BOC CCDS2971.1 r.? - - Ins intronic I 112932157 112932166 8 30 438.225 - - 1 1 1 BOC|CCDS2971.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BOC|CCDS2971.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 23 23 23 0 0 ./. 4 5 6 5 23 22 23 22 6 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710245121 3 127992820 TG T 360 PASS EEFSEC CCDS33849.1 r.? - - Del intronic D 127992820 127992825 1 15 322.454 - - 4 1 1 EEFSEC|CCDS33849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EEFSEC|CCDS33849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 18 26 18 0 0 ./. 4 2 7 5 29 23 29 23 7 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710249765 3 145202279 A AT 540 PASS - - - - - Ins - I 145202279 145202289 1 28 479.165 - - 9 1 1 - - ./. 0 0 0 0 21 24 21 25 0 0 ./. 6 3 7 4 36 30 36 30 7 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710260777 3 185985706 CGT C 300 PASS DGKG CCDS3274.1 r.? - - Del intronic D 185985706 185985722 2 12 266.805 - - 7 1 - DGKG|CCDS3274.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DGKG|CCDS3274.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 21 21 21 0 0 ./. 3 2 3 2 21 25 21 25 3 2 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710261159 3 187239137 TGAA T 389 PASS - - - - - Del - D 187239137 187239142 3 20 376.899 - - 1 1 1 - - ./. 0 0 0 0 19 36 19 36 0 0 ./. 3 4 5 4 17 26 17 26 5 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710296176 4 113778846 CAG C 420 PASS ANK2 ENST00000506722 r.? - - Del intronic D 113778846 113778851 2 20 376.878 - - 2 1 1 ANK2|ENST00000506722|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ANK2|ENST00000506722|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 4 3 4 5 29 23 29 23 4 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710322195 5 4889613 TCATGTCATCTGCAAA T 414 PASS ENSG00000224867 ENST00000416839 r.? - - Del intronic D 4889613 4889631 15 80 862.331 - - 1 1 1 ENSG00000224867|ENST00000416839|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000224867|ENST00000416839|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 3 9 3 0 0 ./. 9 7 10 4 20 17 20 20 10 7 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710323324 5 8427251 AC A 509 PASS - - - - - Del - D 8427251 8427253 1 30 485.061 - - 1 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 5 4 7 6 33 27 33 27 7 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710324294 5 11696406 CT C 480 PASS CTNND2 CCDS3881.1 r.? - - Del intronic D 11696406 11696411 1 16 431.166 - - 4 1 1 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 1 7 3 9 18 24 18 24 3 9 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710328667 5 25857321 G GAGCAGACC 261 PASS - - - - - Ins - I 25857321 25857355 8 28 441.111 - - 4 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 6 3 6 26 27 27 27 4 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710329379 5 27942454 C CA 300 PASS - - - - - Ins - I 27942454 27942456 1 12 266.468 - - 1 1 1 - - ./. 0 0 0 0 11 22 11 23 0 0 ./. 3 2 5 3 21 23 21 24 5 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710330952 5 32313196 TC T 480 PASS MTMR12 CCDS34138.1 r.? - - Del upstream D 32313196 32313198 1 21 428.155 - - 1 1 1 MTMR12|CCDS34138.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 MTMR12|CCDS34138.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 46 55 46 55 0 0 ./. 6 2 9 5 23 29 23 29 9 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710337500 5 58497345 A AT 360 PASS PDE4D CCDS47213.1 r.? - - Ins intronic I 58497345 58497353 1 16 319.762 - - 7 1 1 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 19 21 19 0 0 ./. 3 3 3 3 32 31 32 31 3 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710344551 5 85385634 T TA 300 PASS - - - - - Ins - I 85385634 85385643 1 10 266.468 - - 8 1 1 - - ./. 0 0 0 0 2 9 2 9 0 0 ./. 1 4 1 7 28 31 28 31 1 7 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710348218 5 101666077 AATC A 272 PASS - - - - - Del - D 101666077 101666086 3 24 643.738 - - 2 1 1 - - ./. 0 0 0 0 0 24 0 24 0 0 ./. 11 1 12 2 20 22 20 22 12 2 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710351418 5 114471095 T TA 300 PASS TRIM36 CCDS4115.1 r.? - - Ins intronic I 114471095 114471105 1 10 265.866 - - 9 1 1 TRIM36|CCDS4115.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRIM36|CCDS4115.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 1 4 6 6 27 34 27 34 6 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710360899 5 152717751 CTTTAT C 290 PASS - - - - - Del - D 152717751 152717763 5 36 537.753 - - 2 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 5 6 5 28 32 28 32 6 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710361824 5 156321888 CA C 540 PASS - - - - - Del - D 156321888 156321890 1 30 485.061 - - 1 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 5 8 5 33 22 33 22 8 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710364458 5 165470688 A AT 300 PASS - - - - - Ins - I 165470688 165470696 1 12 266.468 - - 7 1 1 - - ./. 0 0 0 0 20 25 20 26 0 0 ./. 2 3 5 3 29 24 29 25 5 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710389692 6 62572538 A ATATGC 360 PASS KHDRBS2 CCDS4963.1 r.? - - Ins intronic I 62572538 62572545 5 15 304.641 - - 1 1 1 KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 0 11 0 11 0 0 ./. 2 4 2 4 21 28 21 28 2 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710392249 6 71146319 G GA 300 PASS FAM135A CCDS34481.1 r.? - - Ins intronic I 71146319 71146329 1 10 266.41 - - 9 1 1 FAM135A|CCDS34481.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM135A|CCDS34481.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 1 4 2 20 28 20 29 4 2 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710414467 6 156265956 C CA 660 PASS MIR1202 ENST00000408529 r.? - - Ins upstream I 156265956 156265963 1 42 586.103 - - 6 1 1 MIR1202|ENST00000408529|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 MIR1202|ENST00000408529|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 ./. 0 0 0 0 18 12 18 12 0 0 ./. 5 6 5 7 26 29 27 29 5 7 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710423405 7 13160526 GT G 417 PASS - - - - - Del - D 13160526 13160528 1 20 377.173 - - 1 1 1 - - ./. 0 0 0 0 9 2 9 2 0 0 ./. 3 4 4 6 23 29 23 29 4 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710434119 7 49937826 CA C 420 PASS VWC2 CCDS5508.1 r.? - - Del intronic D 49937826 49937830 1 14 377.173 - - 3 1 1 VWC2|CCDS5508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VWC2|CCDS5508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 22 21 22 0 0 ./. 6 1 6 4 24 20 24 20 6 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710434305 7 50769209 GTCTA G 269 PASS GRB10 CCDS43583.1 r.? - - Del intronic D 50769209 50769214 4 12 268.807 - - 1 1 1 GRB10|CCDS43583.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GRB10|CCDS43583.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 15 24 15 0 0 ./. 2 3 4 3 25 22 25 22 4 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710439459 7 65901042 AAG A 600 PASS AC008267.2 ENST00000418858 r.? - - Del intronic D 65901042 65901047 2 35 538.818 - - 2 1 1 AC008267.2|ENST00000418858|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC008267.2|ENST00000418858|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 6 4 7 4 26 20 26 20 7 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710449071 7 98745338 CG C 300 PASS SMURF1 CCDS34690.1 r.? - - Del upstream D 98745338 98745342 1 12 268.807 - - 3 1 1 SMURF1|CCDS34690.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SMURF1|CCDS34690.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 6 19 25 19 25 3 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710455525 7 123206624 A AT 420 PASS ASB15 CCDS34742.1 r.? - - Ins upstream I 123206624 123206630 1 20 372.958 - - 5 1 1 ASB15|CCDS34742.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ASB15|CCDS34742.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 6 10 7 10 0 0 ./. 4 3 4 7 25 26 25 26 4 7 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710496361 8 110983027 GA G 420 PASS KCNV1 CCDS6314.1 r.? - - Del intronic D 110983027 110983035 1 20 377.295 - - 7 1 1 KCNV1|CCDS6314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNV1|CCDS6314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 3 5 4 35 23 35 23 5 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710500928 8 128973189 TGG T 300 PASS PVT1 CCDS3617.1 r.? - - Del intronic D 128973189 128973198 2 12 267.518 - - 8 1 1 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 2 0 1 12 10 12 10 3 3 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710513399 9 28726985 A AGAGT 778 PASS - - - - - Ins - I 28726985 28726993 4 60 721.316 - - 1 1 1 - - ./. 0 0 0 0 5 5 5 5 0 0 ./. 9 5 10 6 26 21 26 21 10 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710513886 9 30227230 A AT 720 PASS - - - - - Ins - I 30227230 30227237 1 48 640.375 - - 6 1 1 - - ./. 0 0 0 0 32 47 32 48 0 0 ./. 5 7 7 7 37 30 38 30 7 7 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710518071 9 66471652 CA C 282 PASS - - - - - Del - D 66471652 66471654 1 33 646.395 - - 1 1 1 - - ./. 0 0 0 0 27 54 27 54 0 0 ./. 2 10 2 12 126 183 126 183 2 12 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710527402 9 95598416 TAA T 660 PASS ENSG00000218940 ENST00000375504 r.? - - Del intronic D 95598416 95598421 2 42 594.185 - - 4 1 1 ENSG00000218940|ENST00000375504|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ENSG00000218940|ENST00000375504|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 38 28 38 28 0 0 ./. 6 5 6 7 28 35 28 35 6 7 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710529185 9 102069088 C CT 306 PASS KRT8P11 ENST00000409686 r.? - - Ins downstream I 102069088 102069096 1 12 319.886 - - 7 1 1 KRT8P11|ENST00000409686|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 KRT8P11|ENST00000409686|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 27 41 27 41 0 0 ./. 1 5 2 6 10 30 10 30 2 6 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710532437 9 114145677 CAA C 480 PASS KIAA0368 CCDS48006.1 r.? - - Del intronic D 114145677 114145682 2 24 432.134 - - 4 1 1 KIAA0368|CCDS48006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0368|CCDS48006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 3 5 4 15 22 15 22 5 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710543560 X 13868267 TG T 360 PASS GPM6B CCDS48084.1 r.? - - Del intronic D 13868267 13868272 1 16 323.007 - - 4 1 1 GPM6B|CCDS48084.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPM6B|CCDS48084.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 3 7 5 21 14 21 14 7 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710546537 X 27659487 GTAATT G 478 PASS - - - - - Del - D 27659487 27659496 5 18 485.112 - - 1 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 1 8 3 10 23 31 23 31 3 10 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710549132 X 41012242 TAATC T 629 PASS USP9X CCDS43930.1 r.2439_2442delAAUC c.1806_1809delAATC p.Q605fs*7 Del frameshift D 41012242 41012253 4 42 594.386 - - 2 1 1 USP9X|CCDS43930.1|r.2439_2442delAAUC|c.1806_1809delAATC|p.Q605fs*7|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 USP9X|CCDS43930.1|r.2439_2442delAAUC|c.1806_1809delAATC|p.Q605fs*7|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 17 6 17 6 0 0 ./. 6 5 9 5 26 27 26 27 9 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710553573 X 68569271 AC A 420 PASS - - - - - Del - D 68569271 68569274 1 20 378.246 - - 2 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 3 4 5 25 23 25 23 4 5 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710556408 X 82841743 AC A 269 PASS - - - - - Del - D 82841743 82841745 1 6 255.124 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 0 6 0 21 19 21 19 6 0 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710556448 X 83120271 T TAC 360 PASS CYLC1 CCDS35341.1 r.? - - Ins intronic I 83120271 83120290 2 15 312.17 - - 9 1 - CYLC1|CCDS35341.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CYLC1|CCDS35341.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 2 5 2 35 24 36 24 5 2 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710565779 X 129060570 G GA 780 PASS UTP14A CCDS14615.1 r.? - - Ins intronic I 129060570 129060576 1 26 693.426 - - 5 1 1 UTP14A|CCDS14615.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UTP14A|CCDS14615.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 12 1 14 4 43 29 43 29 14 4 1 1 1 1 1 1 1 1 2662609 PD18758a PD18758b 2710566682 X 133763097 TC T 360 PASS PLAC1 CCDS14642.1 r.? - - Del intronic D 133763097 133763100 1 15 324.211 - - 2 1 1 PLAC1|CCDS14642.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLAC1|CCDS14642.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 4 4 7 25 24 25 24 4 7 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787379113 1 48599381 A AT 300 PASS - - - - - Ins - I 48599381 48599391 1 12 262.656 - - 9 1 1 - - ./. 0 0 0 0 17 10 18 10 0 0 ./. 3 2 3 2 22 28 22 29 3 2 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787388520 1 81810363 A AAT 300 PASS LPHN2 ENST00000370728 r.? - - Ins intronic I 81810363 81810365 2 6 260.85 - - 0 1 - LPHN2|ENST00000370728|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LPHN2|ENST00000370728|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 8 8 9 0 0 ./. 5 0 1 0 31 20 31 20 6 0 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787394183 1 100269506 CACTT C 629 PASS - - - - - Del - D 100269506 100269515 4 36 592.413 - - 2 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 8 4 9 34 38 34 38 4 9 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787394516 1 101260545 AG A 569 PASS - - - - - Del - D 101260545 101260548 1 35 533.741 - - 2 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 6 4 7 4 22 18 22 18 7 4 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787395488 1 104672902 CT C 300 PASS - - - - - Del - D 104672902 104672911 1 10 269.279 - - 8 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 1 5 6 22 31 22 31 5 6 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787406899 1 157990006 TG T 480 PASS KIRREL CCDS1172.2 r.? - - Del intronic D 157990006 157990008 1 24 430.846 - - 1 1 1 KIRREL|CCDS1172.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIRREL|CCDS1172.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 3 6 3 23 26 23 26 6 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787409584 1 166606863 G GT 600 PASS - - - - - Ins - I 166606863 166606866 1 32 530.73 - - 2 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 7 4 9 24 30 24 30 4 9 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787434346 1 246413003 ATG A 420 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 246413003 246413011 2 20 376.99 - - 3 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 4 4 4 32 18 32 18 4 4 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787435796 10 1057040 TCTTCCCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCCCCCTGCACCAC T 292 PASS GTPBP4 CCDS31132.1 r.? - - Del intronic D 1057040 1057135 87 30 482.73 - - 1 1 1 GTPBP4|CCDS31132.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GTPBP4|CCDS31132.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 8 10 0 0 ./. 5 4 0 0 19 19 24 24 5 4 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787437324 10 5347769 AG A 540 PASS - - - - - Del - D 5347769 5347774 1 30 482.73 - - 4 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 4 5 4 14 23 14 23 5 4 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787449094 10 42427414 GT G 300 PASS - - - - - Del - D 42427414 42427418 1 10 270.19 - - 3 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 4 1 4 1 26 15 26 15 4 1 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787464170 10 95981056 GGT G 300 PASS PLCE1 CCDS41552.1 r.? - - Del intronic D 95981056 95981071 2 10 270.19 - - 7 1 - PLCE1|CCDS41552.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCE1|CCDS41552.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 1 4 1 4 17 16 17 16 1 4 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787477417 11 5017482 GCA G 360 PASS MMP26 CCDS7752.1 r.? - - Del downstream D 5017482 5017499 2 15 324.955 - - 8 1 1 MMP26|CCDS7752.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OR51L1|CCDS31369.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 2 4 3 24 27 24 27 4 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787485191 11 29199327 A AG 869 PASS - - - - - Ins - I 29199327 29199328 1 70 788.908 - - 0 1 1 - - ./. 0 0 0 0 7 9 8 9 0 0 ./. 6 9 10 9 21 17 22 17 10 9 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787489795 11 45046793 CTG C 360 PASS - - - - - Del - D 45046793 45046801 2 15 322.547 - - 3 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 4 4 5 21 31 21 31 4 5 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787493655 11 60835851 ATC A 360 PASS - - - - - Del - D 60835851 60835869 2 15 324.955 - - 8 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 4 2 5 2 14 9 14 9 5 2 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787504044 11 99683875 G GA 300 PASS - - - - - Ins - I 99683875 99683882 1 6 267.786 - - 6 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 0 5 1 19 13 20 13 5 1 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787517350 12 11884479 A AT 360 PASS ETV6 CCDS8643.1 r.? - - Ins intronic I 11884479 11884488 1 16 320.712 - - 8 1 1 ETV6|CCDS8643.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ETV6|CCDS8643.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 3 3 3 28 21 28 21 3 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787527520 12 48046202 CACAT C 269 PASS - - - - - Del - D 48046202 48046207 4 12 270.772 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 2 3 14 16 14 16 2 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787550757 12 128802506 A ATT 660 PASS - - - - - Ins - I 128802506 128802510 2 42 582.453 - - 3 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 6 6 7 31 34 31 34 6 7 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787575211 13 92931223 A AT 300 PASS GPC5 CCDS9468.1 r.? - - Ins intronic I 92931223 92931233 1 12 263.583 - - 9 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 2 3 24 23 25 23 2 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787586666 14 34691861 G GA 300 PASS - - - - - Ins - I 34691861 34691871 1 12 264.407 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 3 2 3 34 20 34 20 2 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787626412 15 80645183 A AG 300 PASS - - - - - Ins - I 80645183 80645184 1 12 265.162 - - 0 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 3 2 21 19 22 19 3 2 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787680893 17 70976648 T TA 540 PASS SLC39A11 CCDS11690.1 r.? - - Ins intronic I 70976648 70976658 1 24 474.693 - - 9 1 1 SLC39A11|CCDS11690.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC39A11|CCDS11690.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 2 7 3 8 16 44 16 44 3 8 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787685383 18 1458230 C CA 360 PASS - - - - - Ins - I 1458230 1458240 1 16 322.385 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 3 3 3 35 45 35 45 3 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787693532 18 31129563 CA C 300 PASS - - - - - Del - D 31129563 31129565 1 12 271.664 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 2 5 19 25 19 25 2 5 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787720238 19 41431421 T TG 300 PASS - - - - - Ins - I 41431421 41431422 1 12 266.066 - - 0 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 3 2 20 19 20 19 3 2 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787737889 2 40261297 CTG C 300 PASS - - - - - Del - D 40261297 40261313 2 12 268.901 - - 7 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 2 3 2 3 22 34 22 34 2 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787768175 2 155125149 CAG C 360 PASS GALNT13 CCDS2199.1 r.? - - Del intronic D 155125149 155125166 2 16 322.801 - - 8 1 - GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 3 3 3 3 26 22 26 22 3 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787775150 2 180468748 T TA 360 PASS ZNF385B CCDS33339.1 r.? - - Ins intronic I 180468748 180468755 1 15 319.791 - - 6 1 1 ZNF385B|CCDS33339.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF385B|CCDS33339.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 2 4 6 7 32 34 32 34 6 7 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787781718 2 203644492 CAAT C 387 PASS ICA1L CCDS2354.1 r.? - - Del intronic D 203644492 203644499 3 25 424.582 - - 2 1 1 ICA1L|CCDS2354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ICA1L|CCDS2354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 4 6 4 28 22 28 22 6 4 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787786635 2 220154646 G GCG 356 PASS PTPRN CCDS2440.1 r.3482_3483inscg c.? p.? Ins 3'UTR variant I 220154645 220154647 2 25 420.969 - - 0 1 1 PTPRN|CCDS2440.1|r.3482_3483inscg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 PTPRN|CCDS2440.1|r.3482_3483inscg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 4 6 4 6 0 0 ./. 4 4 0 0 19 19 19 19 4 4 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787810281 20 55607027 A ATA 360 PASS - - - - - Ins - I 55607025 55607029 2 7 318.709 - - 1 1 - - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 0 6 0 1 35 51 36 51 0 7 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787824609 21 39577118 ATCT A 389 PASS - - - - - Del - D 39577118 39577125 3 20 381.309 - - 2 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 4 5 5 29 17 29 17 5 5 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787841720 3 9863703 AG A 300 PASS TTLL3 CCDS43048.1 r.? - - Del intronic D 9863703 9863705 1 6 262.775 - - 1 1 1 TTLL3|CCDS43048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTLL3|CCDS43048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 0 7 0 13 14 13 14 7 0 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787851827 3 48990177 T TC 300 PASS ARIH2 CCDS2780.1 r.? - - Ins intronic I 48990177 48990178 1 12 266.388 - - 0 1 1 ARIH2|CCDS2780.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARIH2|CCDS2780.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 3 3 18 23 18 23 3 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787865830 3 100035313 T TA 300 PASS TBC1D23 CCDS2936.1 r.? - - Ins intronic I 100035313 100035322 1 10 265.785 - - 8 1 1 TBC1D23|CCDS2936.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TBC1D23|CCDS2936.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 1 7 1 44 16 45 16 7 1 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787900326 4 25617502 TC T 300 PASS - - - - - Del - D 25617502 25617507 1 6 269.195 - - 4 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 5 0 6 1 24 19 24 19 6 1 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787922191 4 99187145 T TATA 387 PASS RAP1GDS1 CCDS43253.1 r.? - - Ins intronic I 99187145 99187146 3 16 417.226 - - 0 1 1 RAP1GDS1|CCDS43253.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAP1GDS1|CCDS43253.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 1 7 1 7 17 35 17 35 1 7 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787923971 4 105893119 CTATT C 269 PASS - - - - - Del - D 105893119 105893128 4 12 269.797 - - 2 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 3 4 3 31 17 31 17 4 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787930546 4 129279381 G GATCC 389 PASS - - - - - Ins - I 129279381 129279383 4 14 360.858 - - 0 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 6 1 6 1 30 14 30 15 6 1 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787963834 5 40312802 G GA 300 PASS - - - - - Ins - I 40312802 40312812 1 6 264.813 - - 9 1 1 - - ./. 0 0 0 0 24 11 24 11 0 0 ./. 0 5 0 6 22 22 22 22 0 6 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787974623 5 83601981 A AT 300 PASS EDIL3 CCDS4062.1 r.? - - Ins intronic I 83601981 83601989 1 12 266.017 - - 7 1 1 EDIL3|CCDS4062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EDIL3|CCDS4062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 3 7 3 0 0 ./. 3 2 4 2 25 17 25 17 4 2 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787989660 5 140602738 G GA 360 PASS PCDHB14 CCDS4256.1 r.? - - Ins upstream I 140602738 140602747 1 15 320.666 - - 8 1 1 PCDHB14|CCDS4256.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 PCDHB14|CCDS4256.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 18 20 18 20 0 0 ./. 2 4 3 5 29 25 30 25 3 5 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787990099 5 142202961 G GT 300 PASS ARHGAP26 CCDS47297.1 r.? - - Ins intronic I 142202961 142202971 1 10 266.619 - - 9 1 1 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 1 5 1 26 25 26 25 5 1 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2787999037 5 174311308 GTA G 300 PASS - - - - - Del - D 174311308 174311324 2 12 269.028 - - 7 1 - - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 2 3 2 4 18 29 18 29 2 4 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788023248 6 68405532 ACACT A 300 PASS - - - - - Del - D 68405532 68405541 4 12 270.191 - - 2 1 1 - - ./. 0 0 0 0 14 5 14 5 0 0 ./. 2 3 2 3 14 17 14 17 2 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788024194 6 71399185 AGC A 360 PASS SMAP1 CCDS43478.1 r.? - - Del intronic D 71399185 71399188 2 15 324.23 - - 1 1 1 SMAP1|CCDS43478.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMAP1|CCDS43478.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 2 4 2 30 20 30 20 4 2 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788028804 6 87971429 GA G 540 PASS ZNF292 CCDS47457.1 r.8124delA c.8083delA p.K2696fs*14 Del frameshift D 87971429 87971436 1 30 486.344 - - 6 1 1 ZNF292|CCDS47457.1|r.8124delA|c.8083delA|p.K2696fs*14|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ZNF292|CCDS47457.1|r.8124delA|c.8083delA|p.K2696fs*14|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 4 8 5 26 28 26 28 8 5 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788030509 6 94330121 A AT 600 PASS - - - - - Ins - I 94330121 94330129 1 32 524.127 - - 7 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 7 3 9 3 23 21 23 21 9 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788041532 6 135836606 ATG A 300 PASS - - - - - Del - D 135836606 135836624 2 12 270.191 - - 8 1 - - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 3 3 28 14 28 14 3 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788090953 7 135097841 A ATT 300 PASS CNOT4 CCDS47719.1 r.? - - Ins intronic I 135097841 135097843 2 12 263.716 - - 1 1 1 CNOT4|CCDS47719.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNOT4|CCDS47719.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 3 2 4 3 23 19 23 19 4 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788097843 7 157333210 AT A 300 PASS PTPRN2 CCDS5947.1 r.3255delA c.? p.? Del 3'UTR variant D 157333210 157333216 1 10 270.339 - - 5 1 1 PTPRN2|CCDS5947.1|r.3255delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PTPRN2|CCDS5947.1|r.3255delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 1 4 2 25 22 25 22 4 2 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788108030 8 29814877 GAGAA G 329 PASS - - - - - Del - D 29814877 29814889 4 15 324.657 - - 2 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 2 4 3 14 28 14 28 4 3 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788115783 8 62752584 G GT 300 PASS - - - - - Ins - I 62752584 62752594 1 10 266.935 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 1 4 1 28 29 28 31 4 1 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788122262 8 88379609 GTGA G 420 PASS CNBD1 ENST00000319712 r.? - - Del intronic D 88379609 88379616 3 20 378.767 - - 2 1 1 CNBD1|ENST00000319712|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNBD1|ENST00000319712|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 4 4 4 20 19 20 19 4 4 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788134852 8 130853333 C CT 420 PASS FAM49B CCDS6361.1 r.? - - Ins downstream I 130853333 130853335 1 8 374.553 - - 1 1 1 FAM49B|CCDS6361.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 FAM49B|CCDS6361.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 10 14 10 14 0 0 ./. 7 0 8 1 33 26 33 26 8 1 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788140360 9 3747198 CT C 300 PASS - - - - - Del - D 3747198 3747200 1 10 263.787 - - 1 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 1 4 1 5 23 21 23 21 1 5 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788159872 9 89014206 CT C 420 PASS - - - - - Del - D 89014206 89014213 1 18 379.417 - - 6 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 2 5 2 7 19 30 19 30 2 7 1 1 1 1 1 1 1 1 2838227 PD18760a PD18760b 2788195217 X 110381639 TA T 300 PASS PAK3 CCDS48153.1 r.? - - Del intronic D 110381639 110381646 1 10 271.234 - - 6 1 1 PAK3|CCDS48153.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAK3|CCDS48153.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 1 4 1 24 25 24 25 4 1 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788234223 1 99299021 GT G 360 PASS - - - - - Del - D 99299021 99299028 1 15 323.179 - - 6 1 1 - - ./. 0 0 0 0 11 3 11 3 0 0 ./. 2 4 3 5 19 27 19 27 3 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788236182 1 105580086 GAT G 300 PASS - - - - - Del - D 105580086 105580103 2 10 269.315 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 4 1 4 16 25 16 25 1 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788238870 1 115176956 C CT 300 PASS DENND2C CCDS875.1 r.? - - Ins intronic I 115176956 115176965 1 12 266.305 - - 8 1 1 DENND2C|CCDS875.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 DENND2C|CCDS875.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 4 19 4 0 0 ./. 3 2 3 3 36 16 36 16 3 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788239769 1 118987918 AAG A 300 PASS - - - - - Del - D 118987918 118987937 2 12 269.315 - - 9 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 3 2 2 15 15 15 15 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788248252 1 162816744 T TG 360 PASS C1orf110 ENST00000367912 r.? - - Ins downstream I 162816744 162816746 1 7 318.964 - - 1 1 1 C1orf110|ENST00000367912|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 C1orf110|ENST00000367912|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 17 11 17 0 0 ./. 6 0 6 1 21 32 21 32 6 1 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788257206 1 191998749 AAGTC A 329 PASS - - - - - Del - D 191998749 191998756 4 15 323.179 - - 1 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 4 2 5 32 22 32 22 2 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788260995 1 203804976 C CT 300 PASS ZC3H11A CCDS30978.1 r.? - - Ins intronic I 203804976 203804984 1 12 266.305 - - 7 1 1 ZC3H11A|CCDS30978.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZC3H11A|CCDS30978.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 2 3 4 26 19 26 19 3 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788274244 1 245893779 G GA 300 PASS - - - - - Ins - I 245893779 245893789 1 12 264.499 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 3 2 4 38 27 38 27 2 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788277368 10 5410500 AC A 300 PASS UCN3 CCDS7065.1 r.? - - Del intronic D 5410500 5410502 1 12 269.733 - - 1 1 1 UCN3|CCDS7065.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 UCN3|CCDS7065.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 2 3 15 17 15 17 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788295909 10 65020515 A AAT 317 PASS JMJD1C CCDS41532.1 r.? - - Ins intronic I 65020515 65020516 2 12 316.575 - - 0 1 1 JMJD1C|CCDS41532.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 JMJD1C|CCDS41532.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 9 0 0 ./. 1 5 0 0 11 22 11 22 1 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788321677 11 16947911 CA C 300 PASS PLEKHA7 CCDS31434.1 r.? - - Del intronic D 16947911 16947913 1 12 270.722 - - 1 1 1 PLEKHA7|CCDS31434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLEKHA7|CCDS31434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 3 2 3 22 19 22 19 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788340595 11 83414968 G GA 360 PASS DLG2 CCDS41696.1 r.? - - Ins intronic I 83414968 83414977 1 12 320.05 - - 8 1 1 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 10 20 10 0 0 ./. 5 1 5 5 34 26 34 27 5 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788342180 11 89060568 TG T 360 PASS NOX4 CCDS8285.1 r.? - - Del intronic D 89060568 89060571 1 12 324.866 - - 2 1 1 NOX4|CCDS8285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOX4|CCDS8285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 5 1 7 4 22 25 22 25 7 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788348526 11 110375231 CTG C 300 PASS - - - - - Del - D 110375231 110375250 2 12 270.722 - - 9 1 - - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 3 1 20 28 20 28 3 2 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788364790 12 28672451 TC T 420 PASS CCDC91 CCDS8716.1 r.? - - Del intronic D 28672451 28672454 1 20 378.479 - - 2 1 1 CCDC91|CCDS8716.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC91|CCDS8716.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 3 4 4 21 31 21 31 4 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788369042 12 45425664 C CT 420 PASS DBX2 CCDS31781.1 r.? - - Ins intronic I 45425664 45425674 1 18 365.836 - - 9 1 1 DBX2|CCDS31781.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DBX2|CCDS31781.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 5 2 6 3 28 15 29 15 6 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788373621 12 62006820 GT G 300 PASS - - - - - Del - D 62006820 62006830 1 12 270.772 - - 9 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 4 3 19 28 19 28 4 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788383509 12 97283378 T TA 300 PASS - - - - - Ins - I 97283378 97283386 1 10 264.149 - - 7 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 1 5 4 31 31 31 33 5 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788389962 12 120934337 T TA 300 PASS DYNLL1 CCDS9200.1 r.367_368insa c.113_114insA p.A39fs*9 Ins frameshift I 120934337 120934338 1 10 266.558 - - 0 1 1 DYNLL1|CCDS9200.1|r.367_368insa|c.113_114insA|p.A39fs*9|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 DYNLL1|CCDS9200.1|r.367_368insa|c.113_114insA|p.A39fs*9|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 1 5 1 16 7 16 7 5 1 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788407968 13 61602840 GCA G 300 PASS - - - - - Del - D 61602840 61602859 2 10 271.227 - - 9 1 - - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 1 4 1 26 22 26 22 4 1 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788425336 14 19818359 T TG 325 PASS - - - - - Ins - I 19818359 19818360 1 24 424.371 - - 0 1 - - - ./. 0 0 0 0 34 23 35 24 0 0 ./. 3 5 0 0 58 71 62 72 3 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788431563 14 40113414 G GGA 478 PASS - - - - - Ins - I 40113414 40113415 2 18 475.686 - - 0 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 8 0 0 24 31 24 31 1 8 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788460510 15 49436169 CG C 300 PASS COPS2 CCDS45257.1 r.? - - Del intronic D 49436169 49436175 1 10 271.819 - - 5 1 1 COPS2|CCDS45257.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COPS2|CCDS45257.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 21 10 21 0 0 ./. 1 4 3 5 19 28 19 28 3 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788474563 15 99033548 G GT 300 PASS FAM169B CCDS45360.1 r.? - - Ins upstream I 99033548 99033558 1 10 268.808 - - 9 1 1 FAM169B|CCDS45360.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 FAM169B|CCDS45360.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 16 13 17 0 0 ./. 1 4 1 4 25 29 25 29 1 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788491893 16 60790588 GT G 360 PASS - - - - - Del - D 60790588 60790594 1 16 325.912 - - 5 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 4 3 23 20 23 20 4 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788499733 16 87199888 T TA 300 PASS - - - - - Ins - I 87199888 87199898 1 12 265.572 - - 9 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 3 2 3 24 32 24 32 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788540415 18 52575960 CT C 300 PASS CCDC68 CCDS11959.1 r.? - - Del intronic D 52575960 52575970 1 12 271.689 - - 9 1 1 CCDC68|CCDS11959.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC68|CCDS11959.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 2 3 38 20 38 20 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788562680 19 44364870 AAAC A 300 PASS ZNF230 ENST00000421176 r.? - - Del intronic D 44364870 44364888 3 10 272.091 - - 5 1 1 ZNF230|ENST00000421176|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF230|ENST00000421176|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 1 5 2 33 23 33 23 5 2 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788571302 2 11562374 G GGA 360 PASS - - - - - Ins - I 11562374 11562375 2 12 314.889 - - 0 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 1 0 0 19 12 20 12 5 1 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788586014 2 63576328 G GT 300 PASS C2orf86 CCDS42688.1 r.? - - Ins intronic I 63576328 63576338 1 12 266.421 - - 9 1 1 C2orf86|CCDS42688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C2orf86|CCDS42688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 2 3 2 3 25 30 25 31 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788611984 2 160542773 AAG A 300 PASS - - - - - Del - D 160542773 160542789 2 12 269.431 - - 7 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 3 2 3 28 18 28 18 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788617148 2 177979595 GAC G 300 PASS - - - - - Del - D 177979595 177979612 2 10 269.431 - - 8 1 - - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 1 4 1 4 27 28 27 28 1 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788617577 2 179421002 C CA 300 PASS TTN ENST00000342992 r.? - - Ins intronic I 179421002 179421009 1 12 266.421 - - 6 1 1 TTN|ENST00000342992|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTN|ENST00000342992|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 4 3 21 24 23 24 4 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788619395 2 185781615 G GA 269 PASS ZNF804A CCDS2291.1 r.? - - Ins intronic I 185781615 185781625 1 12 246.553 - - 9 1 1 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 3 2 3 23 31 24 31 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788648799 20 44958308 TGA T 300 PASS - - - - - Del - D 44958308 44958328 2 12 270.565 - - 9 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 2 3 4 21 20 21 20 3 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788650225 20 49618660 AAG A 300 PASS KCNG1 CCDS13436.1 r.? - - Del downstream D 49618660 49618677 2 12 270.565 - - 8 1 1 KCNG1|CCDS13436.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KCNG1|CCDS13436.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 3 2 4 25 28 25 28 2 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788688083 3 26356654 A AT 406 PASS - - - - - Ins - I 26356654 26356664 1 20 372.544 - - 9 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 4 3 4 4 20 18 21 18 4 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788713764 3 119980550 T TC 269 PASS GPR156 CCDS2997.1 r.? - - Ins intronic I 119980550 119980551 1 12 265.759 - - 0 1 - GPR156|CCDS2997.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GPR156|CCDS2997.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 3 2 4 4 10 23 10 23 4 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788727355 3 170173500 A AT 420 PASS CLDN11 ENST00000486975 r.? - - Ins intronic I 170173500 170173509 1 20 372.544 - - 8 1 1 CLDN11|ENST00000486975|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLDN11|ENST00000486975|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 3 4 4 22 32 22 32 4 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788741889 4 22597399 A AT 360 PASS - - - - - Ins - I 22597399 22597401 1 15 320.108 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 2 4 3 30 19 30 19 4 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788753134 4 58742477 C CT 600 PASS - - - - - Ins - I 58742477 58742487 1 27 532.309 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 8 3 10 21 44 21 44 3 10 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788755535 4 66382258 CTG C 300 PASS EPHA5 CCDS3513.1 r.? - - Del intronic D 66382258 66382276 2 12 268.563 - - 8 1 - EPHA5|CCDS3513.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA5|CCDS3513.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 2 3 21 21 21 21 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788774418 4 133149829 AC A 360 PASS - - - - - Del - D 133149829 133149832 1 12 323.72 - - 2 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 1 5 2 5 19 31 19 31 2 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788791778 4 188974213 T TA 300 PASS - - - - - Ins - I 188974213 188974223 1 12 266.155 - - 9 1 1 - - ./. 0 0 0 0 9 15 10 17 0 0 ./. 2 3 2 3 28 34 28 34 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788791964 4 189323058 A AG 420 PASS - - - - - Ins - I 189323058 189323059 1 18 372.857 - - 0 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 2 5 3 5 19 23 20 24 3 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788799276 5 18597413 AT A 420 PASS - - - - - Del - D 18597413 18597416 1 20 377.121 - - 2 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 4 3 4 20 30 20 30 3 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788848390 6 17214508 GGT G 300 PASS - - - - - Del - D 17214508 17214526 2 12 270.185 - - 8 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 2 3 2 3 21 19 21 19 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788851391 6 25703083 T TTA 656 PASS SCGN CCDS4561.1 r.? - - Ins downstream I 25703083 25703085 2 44 685.022 - - 0 1 - SCGN|CCDS4561.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SCGN|CCDS4561.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 6 10 6 11 0 0 ./. 10 3 0 0 19 23 19 23 10 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788856265 6 39593200 GT G 300 PASS KIF6 CCDS4844.1 r.? - - Del intronic D 39593200 39593203 1 10 269.583 - - 2 1 1 KIF6|CCDS4844.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF6|CCDS4844.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 1 4 1 4 18 13 18 13 1 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788877525 6 113191957 ACT A 300 PASS - - - - - Del - D 113191957 113191964 2 12 270.185 - - 3 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 3 4 25 23 25 23 3 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788879587 6 120085468 TA T 600 PASS - - - - - Del - D 120085468 120085471 1 36 540.371 - - 2 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 5 7 5 30 27 30 27 7 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788888314 6 152975003 A AGCC 261 PASS - - - - - Ins - I 152975003 152975007 3 12 312.783 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 12 0 0 ./. 5 1 5 2 26 20 28 21 5 2 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788894956 7 2965409 C CCTTGCACCTCCAATGTTGGCCTCTCCCTTCAGA 300 PASS CARD11 CCDS5336.2 r.? - - Ins intronic I 2965409 2965423 33 10 167.984 - - 0 1 1 CARD11|CCDS5336.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CARD11|CCDS5336.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 1 0 0 23 18 27 19 4 1 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788905411 7 36398564 CTGA C 389 PASS KIAA0895 CCDS47573.1 r.? - - Del intronic D 36398564 36398571 3 20 378.468 - - 2 1 1 KIAA0895|CCDS47573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0895|CCDS47573.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 3 5 3 23 23 23 23 5 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788915229 7 67786763 AT A 540 PASS - - - - - Del - D 67786763 67786770 1 30 486.602 - - 6 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 5 4 5 35 22 35 22 4 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788920212 7 84573929 G GA 329 PASS - - - - - Ins - I 84573929 84573939 1 15 314.768 - - 9 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 4 2 4 2 31 34 31 34 4 2 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788928087 7 114233238 TA T 660 PASS FOXP2 CCDS43635.1 r.? - - Del intronic D 114233238 114233241 1 36 594.736 - - 2 1 1 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 8 4 8 22 28 22 28 4 8 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788935352 7 139599398 AT A 300 PASS TBXAS1 CCDS5855.1 r.? - - Del intronic D 139599398 139599401 1 10 270.334 - - 2 1 1 TBXAS1|CCDS5855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBXAS1|CCDS5855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 1 4 1 7 22 19 22 19 1 7 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788954085 8 40777151 CT C 540 PASS - - - - - Del - D 40777151 40777159 1 30 487.257 - - 7 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 5 4 6 25 29 25 29 4 6 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788958531 8 61506540 G GA 269 PASS RAB2A CCDS6175.1 r.? - - Ins intronic I 61506540 61506550 1 12 265.28 - - 9 1 1 RAB2A|CCDS6175.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAB2A|CCDS6175.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 2 3 2 3 30 17 31 17 2 3 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788984263 9 11139719 TG T 420 PASS - - - - - Del - D 11139719 11139721 1 20 379.407 - - 1 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 4 3 5 31 28 31 28 3 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788999537 9 83606219 T TA 300 PASS - - - - - Ins - I 83606219 83606226 1 10 267.995 - - 6 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 1 4 1 4 22 30 22 30 1 4 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2788999930 9 85208306 T TA 420 PASS - - - - - Ins - I 85208306 85208313 1 20 375.193 - - 6 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 4 3 5 20 22 20 22 3 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2789004870 9 104176403 AAAT A 269 PASS ZNF189 CCDS6755.1 r.? - - Del downstream D 104176403 104176410 3 10 270.403 - - 2 1 1 ZNF189|CCDS6755.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF189|CCDS6755.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 4 2 5 28 30 28 30 2 5 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2789019039 X 20786982 T TA 360 PASS - - - - - Ins - I 20786982 20786992 1 15 317.295 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 2 4 2 21 19 21 19 4 2 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2789034127 X 104915826 A AT 300 PASS IL1RAPL2 CCDS14517.1 r.? - - Ins intronic I 104915826 104915836 1 12 261.803 - - 9 1 1 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 4 2 24 26 24 26 4 2 1 1 1 1 1 1 1 1 2838234 PD18761a PD18761b 2789042875 X 151601171 ATAAT A 269 PASS GABRA3 CCDS14706.1 r.? - - Del intronic D 151601171 151601181 4 12 271.436 - - 2 1 1 GABRA3|CCDS14706.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GABRA3|CCDS14706.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 3 3 3 18 18 18 18 3 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525294186 1 39219604 CCT C 300 PASS - - - - - Del - D 39219604 39219622 2 12 269.226 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 2 3 17 15 17 15 2 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525304392 1 77056253 GCAAA G 329 PASS ST6GALNAC3 CCDS672.1 r.? - - Del intronic D 77056253 77056262 4 12 323.072 - - 2 1 1 ST6GALNAC3|CCDS672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST6GALNAC3|CCDS672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 19 9 19 0 0 ./. 1 5 2 7 24 25 24 25 2 7 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525309730 1 94942041 TC T 360 PASS ABCD3 CCDS749.1 r.? - - Del intronic D 94942041 94942043 1 12 323.072 - - 1 1 1 ABCD3|CCDS749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCD3|CCDS749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 1 6 2 25 14 25 14 6 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525310006 1 95702288 GA G 389 PASS RWDD3 CCDS41357.1 r.? - - Del intronic D 95702288 95702291 1 14 372.101 - - 2 1 1 RWDD3|CCDS41357.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RWDD3|CCDS41357.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 6 2 6 26 27 26 27 2 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525315214 1 114022203 CTT C 840 PASS MAGI3 CCDS860.1 r.? - - Del intronic D 114022203 114022207 2 60 752.028 - - 3 1 1 MAGI3|CCDS860.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI3|CCDS860.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 5 9 7 9 26 21 26 21 7 9 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525324842 1 161854671 CTGTT C 509 PASS ATF6 CCDS1235.1 r.? - - Del intronic D 161854671 161854680 4 30 484.608 - - 2 1 1 ATF6|CCDS1235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATF6|CCDS1235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 5 4 8 4 26 36 26 36 8 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525325204 1 162979450 T TCACACACACACACACACACACACACACATACA 261 PASS - - - - - Ins - I 162979450 162979471 32 30 294.357 - - 0 1 - - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 4 0 0 14 24 19 29 5 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525325686 1 164733559 TTA T 689 PASS PBX1 CCDS1246.1 r.? - - Del intronic D 164733559 164733565 2 48 645.541 - - 2 1 1 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 21 8 21 0 0 ./. 5 7 8 13 26 31 26 31 8 13 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525331276 1 183818044 AT A 540 PASS RGL1 CCDS1359.1 r.? - - Del intronic D 183818044 183818050 1 30 484.608 - - 5 1 1 RGL1|CCDS1359.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGL1|CCDS1359.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 5 5 9 27 28 27 28 5 9 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525337041 1 201409253 CA C 360 PASS - - - - - Del - D 201409253 201409258 1 15 321.868 - - 4 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 2 4 4 5 8 11 8 11 4 5 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525339053 1 207940439 T TTA 720 PASS CD46 CCDS1482.1 r.911_912insua c.755_756insTA p.M253fs*46 Ins frameshift I 207940439 207940443 2 33 631.092 - - 1 1 1 CD46|CCDS1482.1|r.911_912insua|c.755_756insTA|p.M253fs*46|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 CD46|CCDS1482.1|r.911_912insua|c.755_756insTA|p.M253fs*46|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 10 6 11 28 28 28 28 6 11 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525349368 1 240109773 GA G 360 PASS - - - - - Del - D 240109773 240109777 1 12 320.061 - - 3 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 1 6 3 28 22 28 22 6 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525355986 10 8423390 A AT 540 PASS - - - - - Ins - I 8423390 8423397 1 10 481.024 - - 6 1 1 - - ./. 0 0 0 0 0 10 0 10 0 0 ./. 0 9 0 13 0 22 0 22 0 13 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525363342 10 30553739 G GAT 387 PASS - - - - - Ins - I 30553739 30553741 2 24 422.76 - - 0 1 1 - - ./. 0 0 0 0 9 8 9 9 0 0 ./. 5 3 0 0 23 18 23 18 5 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525392642 10 130682835 TG T 300 PASS - - - - - Del - D 130682835 130682838 1 6 270.246 - - 2 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 0 6 0 26 17 26 17 6 0 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525408818 11 47701641 A AC 300 PASS AGBL2 CCDS7944.1 r.? - - Ins intronic I 47701641 47701646 1 12 259.207 - - 4 1 1 AGBL2|CCDS7944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGBL2|CCDS7944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 2 3 2 13 24 13 24 3 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525419855 11 90485519 A AT 300 PASS - - - - - Ins - I 90485519 90485528 1 10 267.636 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 1 4 2 24 12 24 12 4 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525422107 11 98261128 CATGGAAATAAGGCCCATCAGCTTCTCTGAGGCAACA C 261 PASS - - - - - Del - D 98261128 98261167 36 28 487.164 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 6 3 3 2 26 20 29 21 6 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525426364 11 111508566 A AT 418 PASS SIK2 CCDS8347.1 r.? - - Ins intronic I 111508566 111508570 1 24 427.014 - - 3 1 1 SIK2|CCDS8347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SIK2|CCDS8347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 3 6 5 34 30 34 30 6 5 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525453796 12 70572235 CAAAG C 507 PASS - - - - - Del - D 70572235 70572245 4 36 541.39 - - 2 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 5 5 6 9 35 26 35 26 6 9 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525458966 12 89661516 A AT 300 PASS - - - - - Ins - I 89661516 89661523 1 10 266.481 - - 6 1 1 - - ./. 0 0 0 0 11 7 11 8 0 0 ./. 1 4 4 5 24 20 24 20 4 5 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525475594 13 27895296 CAAGCCTGGCATGGTAA C 261 PASS - - - - - Del - D 27895296 27895314 16 24 482.619 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 7 2 7 19 25 19 25 2 7 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525484763 13 58110921 G GTTTAGGTT 319 PASS - - - - - Ins - I 58110921 58110932 8 42 538.692 - - 1 1 1 - - ./. 0 0 0 0 4 7 4 8 0 0 ./. 5 6 6 6 28 25 28 25 6 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525488334 13 68651055 GAAC G 480 PASS - - - - - Del - D 68651055 68651067 3 24 433.811 - - 3 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 3 5 3 7 34 25 34 25 3 7 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525488626 13 69568093 CT C 540 PASS - - - - - Del - D 69568093 69568098 1 24 487.435 - - 4 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 7 4 7 20 24 20 24 4 7 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525493812 13 85575776 AC A 480 PASS - - - - - Del - D 85575776 85575779 1 24 433.811 - - 2 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 5 3 7 23 25 23 25 3 7 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525510913 14 43910862 A AAAACAAAAAACTCAAGATGGATTAAAGACTTAAATGTAAGACCTAAAACCAT 300 PASS - - - - - Ins - I 43910862 43910866 52 12 114.996 - - 0 1 - - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 0 0 26 20 26 20 2 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525519968 14 75279537 CT C 420 PASS YLPM1 CCDS45135.1 r.? - - Del intronic D 75279537 75279540 1 20 380.144 - - 2 1 1 YLPM1|CCDS45135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 YLPM1|CCDS45135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 4 4 4 25 24 25 24 4 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525520064 14 75599700 G GT 300 PASS TMED10 CCDS9840.1 r.2614_2615insa c.? p.? Ins 3'UTR variant I 75599700 75599705 1 12 268.521 - - 4 1 1 TMED10|CCDS9840.1|r.2614_2615insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 TMED10|CCDS9840.1|r.2614_2615insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 2 5 3 25 23 26 23 5 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525527596 14 101011625 G GT 300 PASS BEGAIN CCDS9962.1 r.? - - Ins intronic I 101011625 101011627 1 12 267.919 - - 1 1 1 BEGAIN|CCDS9962.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BEGAIN|CCDS9962.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 2 3 3 4 16 19 17 19 3 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525528270 14 103787795 GT G 600 PASS - - - - - Del - D 103787795 103787799 1 27 543.064 - - 3 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 2 8 2 8 17 28 17 28 2 8 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525575779 16 84752703 A AGTT 300 PASS USP10 CCDS45537.1 r.? - - Ins intronic I 84752703 84752725 3 6 262.135 - - 7 1 - USP10|CCDS45537.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USP10|CCDS45537.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 0 5 1 7 13 22 13 23 1 7 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525599433 17 72556697 A AT 329 PASS - - - - - Ins - I 72556697 72556707 1 15 315.077 - - 9 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 4 3 6 23 21 23 21 3 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525601612 17 79707583 CAGCCCCGTTCTCAGGAAATG C 290 PASS - - - - - Del - D 79707583 79707606 20 32 542.588 - - 1 1 1 - - ./. 0 0 0 0 12 4 12 4 0 0 ./. 7 3 8 3 13 14 13 14 8 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525609329 18 25081590 C CA 660 PASS - - - - - Ins - I 25081590 25081599 1 36 582.625 - - 8 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 8 3 8 3 34 18 34 18 8 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525615043 18 46431553 GAGGGAGGAAGGGAAGGAAGGAAGGAAGGA G 269 PASS - - - - - Del - D 46431553 46431601 29 10 271.671 - - 1 1 - - - ./. 0 0 0 0 11 2 11 2 0 0 ./. 4 1 0 0 18 13 18 13 4 1 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525619344 18 61122804 AT A 300 PASS - - - - - Del - D 61122804 61122812 1 12 271.671 - - 7 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 5 5 19 18 19 18 5 5 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525676035 2 123001191 G GT 356 PASS - - - - - Ins - I 123001191 123001199 1 21 424.479 - - 7 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 6 2 6 17 23 17 23 2 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525686690 2 159078397 GGA G 300 PASS CCDC148 CCDS33304.1 r.? - - Del intronic D 159078397 159078415 2 6 268.836 - - 8 1 1 CCDC148|CCDS33304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC148|CCDS33304.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 0 5 0 21 14 21 14 5 0 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525694512 2 186891935 G GA 420 PASS - - - - - Ins - I 186891935 186891943 1 20 372.999 - - 7 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 4 3 4 4 34 19 35 19 4 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525695414 2 189805893 C CAA 360 PASS - - - - - Ins - I 189805893 189805897 2 15 316.101 - - 3 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 6 2 23 25 23 25 6 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525759713 3 17208810 CTT C 540 PASS TBC1D5 CCDS33714.1 r.? - - Del intronic D 17208810 17208816 2 28 485.162 - - 5 1 1 TBC1D5|CCDS33714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D5|CCDS33714.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 3 8 3 22 20 22 20 8 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525760417 3 20699780 TA T 300 PASS - - - - - Del - D 20699780 20699783 1 10 269.869 - - 2 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 1 6 2 32 12 32 12 6 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525761031 3 22494816 CA C 300 PASS - - - - - Del - D 22494816 22494819 1 10 269.267 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 1 4 3 4 22 17 22 17 3 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525765592 3 39308292 TA T 300 PASS CX3CR1 CCDS43069.1 r.? - - Del intronic D 39308292 39308296 1 12 262.042 - - 3 1 1 CX3CR1|CCDS43069.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CX3CR1|CCDS43069.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 3 3 4 13 20 13 20 3 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525766597 3 42824245 T TA 300 PASS HIGD1A CCDS46806.1 r.? - - Ins downstream I 42824245 42824247 1 10 266.859 - - 1 1 1 HIGD1A|CCDS46806.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 HIGD1A|CCDS46806.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 6 18 6 18 0 0 ./. 4 1 6 2 27 17 27 17 6 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525769637 3 54400534 AT A 300 PASS CACNA2D3 ENST00000474759 r.? - - Del intronic D 54400534 54400536 1 12 269.869 - - 1 1 1 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA2D3|ENST00000474759|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 2 6 2 27 17 27 17 6 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525770006 3 55938582 TA T 420 PASS ERC2 CCDS46851.1 r.? - - Del intronic D 55938582 55938585 1 20 377.214 - - 2 1 1 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 3 4 4 29 17 29 17 4 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525789995 3 123794239 AAG A 480 PASS KALRN ENST00000448253 r.? - - Del upstream D 123794239 123794242 2 21 431.79 - - 1 1 1 KALRN|ENST00000448253|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 KALRN|ENST00000448253|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 2 6 2 21 27 21 27 6 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525795698 3 145492113 TA T 300 PASS - - - - - Del - D 145492113 145492117 1 10 269.869 - - 3 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 1 8 1 30 17 30 17 8 1 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525800006 3 160993600 CG C 300 PASS - - - - - Del - D 160993600 160993604 1 12 268.665 - - 3 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 2 3 2 18 25 18 25 3 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525817355 4 21993606 TATA T 480 PASS - - - - - Del - D 21993606 21993613 3 21 431.5 - - 2 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 6 2 6 26 30 26 30 2 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525827678 4 56256516 GA G 300 PASS - - - - - Del - D 56256516 56256519 1 12 269.688 - - 2 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 2 3 2 5 20 17 20 17 2 5 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525828842 4 59659418 T TA 360 PASS - - - - - Ins - I 59659418 59659420 1 16 320.013 - - 1 1 - - - ./. 0 0 0 0 11 7 12 7 0 0 ./. 3 3 5 5 25 19 28 20 5 5 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525830724 4 64586905 AG A 540 PASS - - - - - Del - D 64586905 64586908 1 18 483.632 - - 2 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 8 1 9 2 30 18 30 18 9 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525831697 4 67541212 G GA 300 PASS - - - - - Ins - I 67541212 67541222 1 10 264.269 - - 9 1 1 - - ./. 0 0 0 0 12 13 13 13 0 0 ./. 1 4 2 4 29 31 29 31 2 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525848894 4 126842732 TAA T 360 PASS - - - - - Del - D 126842732 126842736 2 12 323.625 - - 3 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 5 1 7 2 25 25 25 25 7 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525849619 4 129602011 GA G 300 PASS - - - - - Del - D 129602011 129602020 1 10 269.688 - - 8 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 1 5 1 27 16 27 16 5 1 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525866701 4 184227666 T TA 540 PASS WWC2 CCDS34109.2 r.? - - Ins intronic I 184227666 184227676 1 30 480.019 - - 9 1 1 WWC2|CCDS34109.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WWC2|CCDS34109.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 4 5 5 5 24 31 24 31 5 5 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525870430 5 236715 G GT 455 PASS SDHA CCDS3853.1 r.1547+1_1547+2insu c.1432+1_1432+2insT p.? Ins ess splice I 236715 236717 1 35 522.968 - - 1 1 1 SDHA|CCDS3853.1|r.1547+1_1547+2insu|c.1432+1_1432+2insT|p.?|protein_coding:CDS:extended_cis_splice_site:insertion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000667:SO:CGPX03:SO:0001576 SDHA|CCDS3853.1|r.1547+1_1547+2insu|c.1432+1_1432+2insT|p.?|protein_coding:CDS:extended_cis_splice_site:insertion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000667:SO:CGPX03:SO:0001576 ./. 0 0 0 0 5 15 5 15 0 0 ./. 4 6 4 6 12 24 13 24 4 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525873779 5 11076207 TG T 360 PASS CTNND2 CCDS3881.1 r.? - - Del intronic D 11076207 11076212 1 15 322.451 - - 4 1 1 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 4 4 4 23 20 23 20 4 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525876726 5 20597981 T TA 360 PASS - - - - - Ins - I 20597981 20597991 1 15 320.644 - - 9 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 2 4 6 4 21 26 21 27 6 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525883277 5 40806536 TTATAAA T 290 PASS - - - - - Del - D 40806536 40806543 6 27 539.826 - - 1 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 8 2 9 21 19 21 19 2 9 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525892032 5 78180213 AT A 449 PASS ARSB CCDS4043.1 r.? - - Del intronic D 78180213 78180221 1 25 432.342 - - 7 1 1 ARSB|CCDS4043.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARSB|CCDS4043.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 4 4 5 25 15 25 15 5 5 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525894366 5 86077396 G GA 300 PASS - - - - - Ins - I 86077396 86077406 1 12 267.204 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 3 4 31 33 31 33 3 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525895051 5 89113542 GAACA G 478 PASS - - - - - Del - D 89113542 89113555 4 28 485.783 - - 3 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 6 3 6 21 28 21 28 3 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525897983 5 100969600 AACTC A 269 PASS - - - - - Del - D 100969600 100969612 4 12 270.214 - - 2 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 3 2 18 24 18 24 3 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525899912 5 108475738 TAAAC T 300 PASS FER CCDS4098.1 r.? - - Del intronic D 108475738 108475749 4 12 270.214 - - 2 1 1 FER|CCDS4098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FER|CCDS4098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 2 4 3 20 12 20 12 4 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525907820 5 139314140 GA G 360 PASS NRG2 CCDS47277.1 r.? - - Del intronic D 139314140 139314148 1 16 322.451 - - 7 1 1 NRG2|CCDS47277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG2|CCDS47277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 3 6 28 18 28 18 3 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525912293 5 156880769 AG A 269 PASS - - - - - Del - D 156880769 156880771 1 12 257.571 - - 1 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 2 4 20 22 20 22 2 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525957596 6 128293752 TATAG T 507 PASS PTPRK CCDS47473.1 r.? - - Del intronic D 128293752 128293760 4 32 540.26 - - 1 1 1 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 7 3 9 24 36 24 36 3 9 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525957638 6 128417970 T TA 600 PASS PTPRK CCDS47473.1 r.? - - Ins intronic I 128417970 128417977 1 35 533.637 - - 6 1 1 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 6 5 7 24 40 24 41 5 7 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525962012 6 145894957 T TA 360 PASS EPM2A ENST00000450221 r.? - - Ins intronic I 145894957 145894959 1 15 319.34 - - 1 1 1 EPM2A|ENST00000450221|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPM2A|ENST00000450221|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 6 15 6 0 0 ./. 4 2 4 4 27 22 27 23 4 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525978362 7 29201527 CA C 480 PASS CPVL CCDS5419.1 r.? - - Del intronic D 29201527 29201529 1 24 432.508 - - 1 1 1 CPVL|CCDS5419.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CPVL|CCDS5419.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 5 3 6 18 17 18 17 3 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2525990915 7 71543921 A AAAAC 480 PASS CALN1 CCDS47603.1 r.? - - Ins intronic I 71543921 71543941 4 24 410.834 - - 4 1 1 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 3 8 3 28 18 28 18 8 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526003790 7 120567662 GCC G 420 PASS - - - - - Del - D 120567662 120567665 2 18 378.445 - - 2 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 2 6 3 22 23 22 23 6 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526011241 7 145657922 TG T 464 PASS ENSG00000237800 ENST00000439291 r.? - - Del intronic D 145657922 145657925 1 21 432.509 - - 2 1 1 ENSG00000237800|ENST00000439291|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237800|ENST00000439291|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 6 2 7 16 23 16 23 2 7 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526021397 8 17677590 TATATATGTATATATGTACACATATGTTTATATGTATAC T 300 PASS - - - - - Del - D 17677590 17677641 38 12 270.637 - - 1 1 - - - ./. 0 0 0 0 13 3 13 3 0 0 ./. 2 3 0 0 19 12 19 12 2 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526025482 8 30713906 C CA 298 PASS - - - - - Ins - I 30713906 30713916 1 15 294.06 - - 9 1 1 - - ./. 0 0 0 0 10 7 11 7 0 0 ./. 4 2 4 2 23 15 25 15 4 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526035322 8 72479297 G GA 480 PASS - - - - - Ins - I 72479297 72479304 1 25 427.601 - - 6 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 4 4 4 6 33 28 33 28 4 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526042736 8 99550569 AAG A 569 PASS ENSG00000104375 CCDS47900.1 r.? - - Del intronic D 99550569 99550573 2 27 541.275 - - 1 1 1 ENSG00000104375|CCDS47900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000104375|CCDS47900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 8 2 8 2 27 28 27 28 8 2 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526053055 8 137888758 AT A 480 PASS - - - - - Del - D 137888758 137888767 1 21 433.02 - - 8 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 2 6 4 27 18 27 18 6 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526062031 9 22644667 GA G 540 PASS - - - - - Del - D 22644667 22644674 1 30 487.716 - - 6 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 4 5 8 10 22 33 22 33 8 10 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526080004 9 105876384 CAT C 300 PASS - - - - - Del - D 105876384 105876387 2 10 270.351 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 1 5 1 18 20 18 20 5 1 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526093871 X 19214656 GC G 509 PASS - - - - - Del - D 19214656 19214660 1 30 486.308 - - 3 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 5 4 6 14 27 14 27 4 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526096048 X 30500751 C CA 360 PASS - - - - - Ins - I 30500751 30500758 1 16 321.195 - - 6 1 - - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 3 3 5 4 21 28 21 28 5 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526097716 X 38507530 A AT 329 PASS TSPAN7 CCDS14248.1 r.? - - Ins intronic I 38507530 38507537 1 16 319.991 - - 6 1 1 TSPAN7|CCDS14248.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TSPAN7|CCDS14248.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 15 12 0 0 ./. 3 3 4 4 26 26 27 26 4 4 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526101915 X 65613263 C CT 420 PASS - - - - - Ins - I 65613263 65613271 1 20 368.807 - - 7 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 3 4 3 5 16 35 16 35 3 5 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526113130 X 121412850 C CA 360 PASS - - - - - Ins - I 121412850 121412859 1 12 319.389 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 11 0 0 ./. 1 5 2 6 16 23 17 23 2 6 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526116671 X 138872950 CAA C 420 PASS ATP11C CCDS14668.1 r.? - - Del intronic D 138872950 138872953 2 18 379.042 - - 2 1 1 ATP11C|CCDS14668.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP11C|CCDS14668.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 2 8 3 29 19 29 19 8 3 1 1 1 1 1 1 1 1 2291034 PD18762a PD18762b 2526117276 X 141535653 T TA 300 PASS - - - - - Ins - I 141535653 141535663 1 12 268.164 - - 9 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 2 3 3 28 24 28 24 3 3 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2540915903 1 30803167 A AC 358 PASS - - - - - Ins - I 30803167 30803174 1 18 370.84 - - 6 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 2 1 0 20 20 20 20 6 2 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2540942822 1 143491844 GT G 291 PASS - - - - - Del - D 143491844 143491846 1 7 317.605 - - 1 1 1 - - ./. 0 0 0 0 23 22 23 22 0 0 ./. 6 0 11 0 61 34 61 34 11 0 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2540954455 1 180285446 AGT A 269 PASS ACBD6 CCDS1339.1 r.? - - Del intronic D 180285446 180285462 2 12 260.155 - - 7 1 1 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 2 3 30 31 30 31 2 3 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2540984027 10 19772407 GC G 480 PASS C10orf112 ENST00000377266 r.? - - Del intronic D 19772407 19772409 1 24 431.245 - - 1 1 1 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 5 6 6 24 24 24 24 6 6 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2540996931 10 65588606 A AT 898 PASS - - - - - Ins - I 65588606 65588616 1 80 852.256 - - 9 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 7 9 9 12 18 27 18 27 9 12 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541004043 10 90943129 ATC A 300 PASS - - - - - Del - D 90943129 90943145 2 10 269.077 - - 7 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 1 4 1 4 17 29 17 29 1 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541033049 11 48670108 C CT 360 PASS - - - - - Ins - I 48670108 48670117 1 15 320.391 - - 8 1 1 - - ./. 0 0 0 0 12 17 14 17 0 0 ./. 4 2 6 2 33 28 33 28 6 2 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541053554 11 121884944 CA C 420 PASS - - - - - Del - D 121884944 121884952 1 20 378.706 - - 7 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 4 5 4 16 16 16 16 5 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541060927 12 12154623 G GGA 300 PASS - - - - - Ins - I 12154623 12154624 2 6 258.02 - - 0 1 1 - - ./. 0 0 0 0 11 12 11 13 0 0 ./. 0 5 1 0 15 16 15 16 1 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541097118 13 20281919 A ATAT 269 PASS PSPC1 CCDS41870.1 r.? - - Ins intronic I 20281919 20281921 3 12 262.125 - - 0 1 1 PSPC1|CCDS41870.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PSPC1|CCDS41870.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 3 2 3 5 29 32 29 32 3 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541103677 13 40425686 AG A 335 PASS - - - - - Del - D 40425686 40425689 1 25 433.849 - - 2 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 4 4 6 21 25 21 25 4 6 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541111013 13 64623291 A AG 300 PASS - - - - - Ins - I 64623291 64623293 1 12 266.941 - - 1 1 1 - - ./. 0 0 0 0 20 21 20 21 0 0 ./. 2 3 5 5 23 30 24 30 5 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541113626 13 72309700 A ATATGGGATATACGTA 495 PASS DACH1 ENST00000305425 r.? - - Ins intronic I 72309697 72309715 15 20 452.003 - - 0 1 - DACH1|ENST00000305425|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DACH1|ENST00000305425|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 9 1 0 0 47 45 48 45 9 1 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541113845 13 73145749 G GT 300 PASS - - - - - Ins - I 73145749 73145759 1 10 263.329 - - 9 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 1 5 1 33 18 33 18 5 1 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541132979 14 38505047 G GT 660 PASS - - - - - Ins - I 38505047 38505054 1 40 587.94 - - 6 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 4 7 5 8 26 39 27 39 5 8 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541137453 14 51969238 TTTTA T 478 PASS FRMD6 CCDS9704.1 r.? - - Del intronic D 51969238 51969246 4 30 488.431 - - 1 1 1 FRMD6|CCDS9704.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FRMD6|CCDS9704.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 4 7 6 25 17 25 17 7 6 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541139152 14 57404867 TG T 269 PASS - - - - - Del - D 57404867 57404869 1 12 240.043 - - 1 1 - - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 2 4 20 30 21 30 3 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541150801 14 94996774 A AT 300 PASS - - - - - Ins - I 94996774 94996784 1 12 265.932 - - 9 1 1 - - ./. 0 0 0 0 11 18 12 19 0 0 ./. 2 3 2 4 30 39 30 39 2 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541156022 15 23701482 TG T 300 PASS - - - - - Del - D 23701482 23701484 1 6 271.737 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 0 5 2 7 16 29 16 29 2 7 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541174564 15 86462716 G GT 360 PASS - - - - - Ins - I 86462716 86462717 1 12 319.461 - - 0 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 5 2 7 24 20 24 20 2 7 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541188556 16 27488250 CT C 480 PASS GTF3C1 CCDS32414.1 r.? - - Del intronic D 27488250 27488255 1 25 434.409 - - 4 1 1 GTF3C1|CCDS32414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GTF3C1|CCDS32414.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 4 4 8 4 29 22 29 22 8 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541194835 16 58554370 TTTTAA T 507 PASS CNOT1 CCDS10799.1 r.7909_7913delUUAAA c.? p.? Del 3'UTR variant D 58554370 58554377 5 32 542.41 - - 1 1 1 CNOT1|CCDS10799.1|r.7909_7913delUUAAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CNOT1|CCDS10799.1|r.7909_7913delUUAAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 17 8 17 0 0 ./. 7 3 9 5 21 24 21 24 9 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541197832 16 70164368 TC T 456 PASS ENSG00000090857 CCDS45520.1 r.1608delC c.651delC p.G220fs*50 Del frameshift D 70164368 70164370 1 21 434.409 - - 1 1 1 ENSG00000090857|CCDS45520.1|r.1608delC|c.651delC|p.G220fs*50|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ENSG00000090857|CCDS45520.1|r.1608delC|c.651delC|p.G220fs*50|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 29 24 29 24 0 0 ./. 6 2 8 3 45 25 45 25 8 3 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541202040 16 84025988 CG C 300 PASS NECAB2 CCDS10940.1 r.? - - Del intronic D 84025988 84025990 1 12 268.496 - - 1 1 1 NECAB2|CCDS10940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NECAB2|CCDS10940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 2 3 2 3 9 11 9 11 2 3 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541213676 17 31609483 G GTA 300 PASS ACCN1 CCDS11276.1 r.? - - Ins intronic I 31609483 31609485 2 10 265.635 - - 0 1 - ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 11 0 0 ./. 4 1 0 0 28 21 28 21 4 1 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541226495 17 75712387 AT A 300 PASS - - - - - Del - D 75712387 75712396 1 10 269.85 - - 8 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 1 7 1 16 19 16 19 7 1 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541237180 18 32031638 AC A 480 PASS - - - - - Del - D 32031638 32031641 1 25 434.56 - - 2 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 4 4 7 4 28 25 28 25 7 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541238563 18 37248235 TTC T 300 PASS AC105201.1 ENST00000510201 r.? - - Del intronic D 37248235 37248253 2 12 270.998 - - 8 1 - AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 3 2 3 16 26 16 26 2 3 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541249186 18 72274715 GGA G 300 PASS - - - - - Del - D 72274715 72274718 2 6 270.396 - - 1 1 1 - - ./. 0 0 0 0 25 8 25 8 0 0 ./. 0 5 0 5 16 34 16 34 0 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541250270 18 75805102 TAGCCTT TAATA 296 PASS - - - - - Complex - DI 75805103 75805108 6 20 0 - - 0 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 4 0 0 23 16 23 16 3 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541258011 19 20735221 C CT 660 PASS ZNF737 ENST00000344519 r.? - - Ins intronic I 20735221 20735225 1 42 591.586 - - 3 1 1 ZNF737|ENST00000344519|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF737|ENST00000344519|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 5 7 6 17 24 18 24 7 6 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541260945 19 31303919 AT A 300 PASS - - - - - Del - D 31303919 31303927 1 12 269.505 - - 7 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 2 7 4 36 21 36 21 7 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541264480 19 42332382 GTA G 300 PASS - - - - - Del - D 42332382 42332398 2 12 269.505 - - 7 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 2 3 2 24 23 24 23 3 2 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541266246 19 47997119 AG A 360 PASS NAPA CCDS12702.1 r.? - - Del intronic D 47997119 47997122 1 16 326.296 - - 2 1 1 NAPA|CCDS12702.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAPA|CCDS12702.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 4 3 18 12 18 12 4 3 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541271566 2 4374383 AG A 600 PASS - - - - - Del - D 4374383 4374385 1 36 538.211 - - 1 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 5 5 7 7 25 31 25 31 7 7 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541283957 2 47503687 GCAATT G 269 PASS - - - - - Del - D 47503687 47503693 5 12 261.58 - - 1 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 3 3 3 11 14 11 14 3 3 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541286095 2 55208011 TAGA T 416 PASS RTN4 CCDS42684.1 r.? - - Del intronic D 55208011 55208017 3 28 484.932 - - 1 1 1 RTN4|CCDS42684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RTN4|CCDS42684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 3 6 5 8 22 32 22 32 5 8 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541293211 2 83132280 TTCTC T 300 PASS - - - - - Del - D 83132280 83132291 4 10 269.407 - - 5 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 1 4 1 4 18 30 18 30 1 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541302703 2 119820249 AT A 517 PASS - - - - - Del - D 119820249 119820259 1 30 481.32 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 4 6 5 17 28 17 28 6 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541336430 2 236607080 G GA 300 PASS AGAP1 CCDS33408.1 r.? - - Ins intronic I 236607080 236607090 1 10 264.59 - - 9 1 1 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGAP1|CCDS33408.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 1 4 1 36 15 36 15 4 1 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541391848 3 35328172 C CA 360 PASS - - - - - Ins - I 35328172 35328181 1 12 320.229 - - 8 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 5 1 7 2 24 14 24 14 7 2 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541399673 3 65112543 C CA 360 PASS - - - - - Ins - I 65112543 65112551 1 15 320.229 - - 7 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 2 5 2 22 28 22 28 5 2 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541403745 3 76389172 TG T 480 PASS ROBO2 ENST00000487694 r.? - - Del intronic D 76389172 76389175 1 24 431.186 - - 2 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 3 5 3 5 15 20 15 20 3 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541426612 3 160001343 GA G 300 PASS IFT80 CCDS3188.1 r.? - - Del intronic D 160001343 160001347 1 6 269.868 - - 3 1 1 IFT80|CCDS3188.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IFT80|CCDS3188.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 0 5 1 7 16 29 16 29 1 7 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541429014 3 168472310 GT G 360 PASS - - - - - Del - D 168472310 168472319 1 16 323.841 - - 8 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 3 4 5 21 26 21 26 4 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541430262 3 173093272 ATC A 300 PASS - - - - - Del - D 173093272 173093292 2 12 268.664 - - 9 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 3 2 3 2 37 25 37 25 3 2 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541446628 4 30528775 GT G 420 PASS - - - - - Del - D 30528775 30528780 1 20 377.535 - - 4 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 4 4 5 28 24 28 24 4 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541450143 4 41525948 C CA 300 PASS LIMCH1 CCDS33977.1 r.? - - Ins intronic I 41525948 41525950 1 12 266.657 - - 1 1 1 LIMCH1|CCDS33977.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LIMCH1|CCDS33977.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 15 8 0 0 ./. 3 2 4 4 20 17 20 17 4 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541497708 5 7047505 AG A 540 PASS - - - - - Del - D 7047505 7047509 1 30 482.654 - - 3 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 4 6 4 32 15 32 15 6 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541501561 5 19361433 GT G 660 PASS - - - - - Del - D 19361433 19361440 1 40 592.52 - - 6 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 4 7 5 9 21 27 21 27 5 9 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541502720 5 22590645 TTAAA T 269 PASS CDH12 CCDS3890.1 r.? - - Del intronic D 22590645 22590652 4 12 270.148 - - 1 1 1 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 20 15 20 0 0 ./. 3 2 5 2 29 17 29 17 5 2 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541508632 5 41749817 TA T 420 PASS OXCT1 CCDS3937.1 r.? - - Del intronic D 41749817 41749821 1 20 378.207 - - 3 1 1 OXCT1|CCDS3937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OXCT1|CCDS3937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 4 4 5 20 19 20 19 4 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541508662 5 41866449 CAT C 296 PASS OXCT1 CCDS3937.1 r.? - - Del intronic D 41866449 41866453 2 20 377.605 - - 1 1 1 OXCT1|CCDS3937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OXCT1|CCDS3937.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 4 4 4 25 20 25 20 4 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541512170 5 58044420 GGT G 300 PASS RAB3C CCDS3976.1 r.? - - Del intronic D 58044420 58044438 2 10 270.148 - - 8 1 - RAB3C|CCDS3976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB3C|CCDS3976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 1 4 1 3 25 32 25 32 1 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541520564 5 89214503 G GA 480 PASS - - - - - Ins - I 89214503 89214513 1 24 426.216 - - 9 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 3 7 4 23 24 23 24 7 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541526108 5 110237094 TA T 360 PASS - - - - - Del - D 110237094 110237103 1 15 324.178 - - 8 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 2 4 5 23 22 23 22 4 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541526171 5 110540726 CAGTTTCAACTGGT C 261 PASS - - - - - Del - D 110540726 110540742 13 28 485.664 - - 1 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 6 3 6 24 24 24 24 3 6 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541526631 5 112232625 CA C 420 PASS REEP5 CCDS4109.2 r.? - - Del intronic D 112232625 112232633 1 18 378.207 - - 7 1 1 REEP5|CCDS4109.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 REEP5|CCDS4109.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 5 3 5 21 27 21 27 3 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541559730 6 44415483 T TAA 420 PASS CDC5L CCDS4912.1 r.3743_3744insaa c.? p.? Ins 3'UTR variant I 44415483 44415485 2 14 369.698 - - 1 1 1 CDC5L|CCDS4912.1|r.3743_3744insaa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 CDC5L|CCDS4912.1|r.3743_3744insaa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 18 15 18 15 0 0 ./. 1 6 2 9 23 32 23 32 2 9 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541560239 6 46377748 TTC T 300 PASS RCAN2 ENST00000371374 r.? - - Del intronic D 46377748 46377767 2 12 268.887 - - 9 1 1 RCAN2|ENST00000371374|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RCAN2|ENST00000371374|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 3 3 15 23 15 23 3 3 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541571273 6 84311843 T TA 540 PASS SNAP91 CCDS47455.1 r.? - - Ins intronic I 84311843 84311850 1 24 478.939 - - 6 1 1 SNAP91|CCDS47455.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNAP91|CCDS47455.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 20 18 20 0 0 ./. 7 2 8 2 32 26 32 26 8 2 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541578458 6 109929669 G GA 300 PASS AKD1 ENST00000341338 r.? - - Ins intronic I 109929669 109929679 1 10 266.478 - - 9 1 1 AKD1|ENST00000341338|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AKD1|ENST00000341338|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 4 1 4 1 30 23 30 23 4 1 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541578578 6 110613836 TG T 540 PASS C6orf186 CCDS43489.1 r.? - - Del intronic D 110613836 110613839 1 18 486.163 - - 2 1 1 C6orf186|CCDS43489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C6orf186|CCDS43489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 8 1 8 2 34 21 34 21 8 2 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541578641 6 110927449 TG T 300 PASS CDK19 CCDS5085.1 r.? - - Del downstream D 110927449 110927451 1 12 260.458 - - 1 1 1 CDK19|CCDS5085.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CDK19|CCDS5085.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 6 12 6 0 0 ./. 2 3 2 5 16 19 16 19 2 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541594307 6 166925594 AAC A 269 PASS RPS6KA2 CCDS5294.1 r.? - - Del intronic D 166925594 166925612 2 12 265.274 - - 8 1 - RPS6KA2|CCDS5294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPS6KA2|CCDS5294.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 2 4 2 32 28 32 28 4 2 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541594774 6 168724011 T TA 660 PASS DACT2 CCDS47519.1 r.? - - Ins upstream I 168724011 168724013 1 42 586.975 - - 1 1 1 DACT2|CCDS47519.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 DACT2|CCDS47519.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 14 13 14 14 0 0 ./. 5 6 5 6 20 32 20 32 5 6 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541603578 7 25332304 GA G 600 PASS - - - - - Del - D 25332304 25332310 1 36 539.009 - - 5 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 5 9 5 27 28 27 28 9 5 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541606988 7 36533342 TC T 300 PASS - - - - - Del - D 36533342 36533348 1 12 263.484 - - 5 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 3 3 4 24 16 24 16 3 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541608625 7 42154103 TTATTAG T 348 PASS GLI3 CCDS5465.1 r.? - - Del intronic D 42154103 42154110 6 48 644.643 - - 1 1 1 GLI3|CCDS5465.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLI3|CCDS5465.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 7 5 6 28 22 28 23 5 7 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541614382 7 61873099 C CT 300 PASS - - - - - Ins - I 61873099 61873109 1 10 264.688 - - 9 1 1 - - ./. 0 0 0 0 38 32 38 33 0 0 ./. 4 1 3 0 58 54 59 54 5 1 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541632270 7 120075786 GAT G 300 PASS KCND2 CCDS5776.1 r.? - - Del intronic D 120075786 120075804 2 10 270.106 - - 8 1 1 KCND2|CCDS5776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCND2|CCDS5776.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 4 1 4 1 36 18 36 18 4 1 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541637790 7 138170118 C CT 300 PASS TRIM24 CCDS5847.1 r.? - - Ins intronic I 138170118 138170122 1 10 260.473 - - 3 1 1 TRIM24|CCDS5847.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRIM24|CCDS5847.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 21 15 0 0 ./. 1 4 6 8 22 23 22 23 6 8 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541639538 7 144219942 CT C 300 PASS TPK1 CCDS5888.1 r.? - - Del intronic D 144219942 144219947 1 6 265.29 - - 4 1 1 TPK1|CCDS5888.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TPK1|CCDS5888.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 0 5 0 9 20 34 20 34 0 9 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541646133 8 4302034 G GT 300 PASS - - - - - Ins - I 4302034 4302042 1 10 267.485 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 1 5 1 24 14 24 15 5 1 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541660948 8 56174447 TA T 300 PASS XKR4 CCDS34893.1 r.? - - Del intronic D 56174447 56174456 1 12 270.495 - - 8 1 1 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 2 3 24 35 24 35 2 3 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541673104 8 100884281 GGTTGG GTAA 476 PASS VPS13B CCDS6280.1 r.? - - Complex intronic DI 100884282 100884286 5 35 0 - - 0 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 4 6 0 0 25 21 25 21 4 6 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541683031 8 137220640 ATTC A 449 PASS - - - - - Del - D 137220640 137220648 3 24 432.191 - - 2 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 3 6 3 24 17 24 17 6 3 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541685822 9 981671 CG C 420 PASS DMRT3 CCDS6443.1 r.? - - Del intronic D 981671 981674 1 14 379.301 - - 2 1 1 DMRT3|CCDS6443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMRT3|CCDS6443.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 6 3 6 14 17 14 17 3 6 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541694190 9 30272687 C CT 360 PASS - - - - - Ins - I 30272687 30272696 1 15 321.503 - - 8 1 1 - - ./. 0 0 0 0 14 9 15 9 0 0 ./. 4 2 4 4 25 21 25 21 4 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541711965 9 113486940 GT G 480 PASS MUSK CCDS48005.1 r.? - - Del intronic D 113486940 113486945 1 24 433.487 - - 4 1 1 MUSK|CCDS48005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MUSK|CCDS48005.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 3 6 3 23 27 23 27 6 3 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541713916 9 119613509 T TA 480 PASS ASTN2 CCDS48009.1 r.? - - Ins intronic I 119613509 119613518 1 24 428.671 - - 8 1 1 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 8 20 8 0 0 ./. 5 3 6 4 23 21 23 21 6 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541721425 X 8277621 TC T 778 PASS ENSG00000227978 ENST00000418307 r.? - - Del intronic D 8277621 8277624 1 63 759.212 - - 2 1 1 ENSG00000227978|ENST00000418307|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000227978|ENST00000418307|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 6 8 10 11 27 24 27 24 10 11 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541723162 X 16400137 T TA 360 PASS - - - - - Ins - I 16400137 16400145 1 15 321.162 - - 7 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 4 4 4 24 24 24 24 4 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541729354 X 47900757 A AT 480 PASS - - - - - Ins - I 47900757 47900766 1 24 427.815 - - 8 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 3 5 4 19 21 21 21 5 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541734244 X 78789146 A AC 300 PASS - - - - - Ins - I 78789146 78789149 1 12 267.535 - - 2 1 1 - - ./. 0 0 0 0 25 16 26 16 0 0 ./. 2 3 3 4 25 25 25 25 3 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541737200 X 91477109 AG A 300 PASS PCDH11X CCDS14461.1 r.? - - Del intronic D 91477109 91477112 1 12 270.545 - - 2 1 1 PCDH11X|CCDS14461.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH11X|CCDS14461.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 2 3 4 4 20 17 21 17 4 4 1 1 1 1 1 1 1 1 2291588 PD18763a PD18763b 2541744151 X 124636870 G GT 420 PASS - - - - - Ins - I 124636870 124636876 1 20 372.983 - - 5 1 1 - - ./. 0 0 0 0 19 10 20 10 0 0 ./. 4 3 6 3 21 18 21 18 6 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767749648 1 172521493 TC T 360 PASS C1orf9 CCDS1303.1 r.? - - Del intronic D 172521493 172521499 1 12 322.276 - - 5 1 1 C1orf9|CCDS1303.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf9|CCDS1303.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 19 26 19 0 0 ./. 5 1 7 1 35 21 35 21 7 1 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767756246 1 190575003 TG T 300 PASS - - - - - Del - D 190575003 190575013 1 10 268.564 - - 9 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 4 1 4 1 13 41 13 41 4 1 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767762844 1 208691493 T TTATA 1196 PASS - - - - - Ins - I 208691493 208691497 4 143 1128.7 - - 1 1 1 - - ./. 0 0 0 0 29 21 29 21 0 0 ./. 10 12 11 13 35 28 35 28 11 13 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767777047 1 244894798 ATGAT A 360 PASS - - - - - Del - D 244894798 244894805 4 15 321.674 - - 1 1 1 - - ./. 0 0 0 0 25 26 25 26 0 0 ./. 2 4 4 6 16 21 16 21 4 6 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767786939 10 18929926 TAA T 360 PASS NSUN6 CCDS7130.1 r.? - - Del intronic D 18929926 18929930 2 15 323.411 - - 3 1 1 NSUN6|CCDS7130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NSUN6|CCDS7130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 18 21 18 0 0 ./. 2 4 2 5 17 26 17 26 2 5 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767806612 10 74092256 TG T 540 PASS DNAJB12 CCDS7316.2 r.? - - Del downstream D 74092256 74092264 1 30 485.116 - - 7 1 1 DNAJB12|CCDS7316.2|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 DNAJB12|CCDS7316.2|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 25 15 25 15 0 0 ./. 5 4 9 4 25 18 25 18 9 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767814134 10 98001817 A AC 360 PASS BLNK CCDS7446.1 r.? - - Ins intronic I 98001817 98001825 1 15 311.972 - - 7 1 1 BLNK|CCDS7446.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BLNK|CCDS7446.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 19 25 19 0 0 ./. 4 2 6 2 21 20 21 20 6 2 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767817284 10 106608518 TC T 420 PASS SORCS3 CCDS7558.1 r.? - - Del intronic D 106608518 106608520 1 20 376.711 - - 1 1 1 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORCS3|CCDS7558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 22 21 22 0 0 ./. 4 3 5 4 18 30 18 30 5 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767828698 11 3932789 A AT 300 PASS STIM1 CCDS7749.1 r.? - - Ins intronic I 3932789 3932798 1 12 266.321 - - 8 1 1 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 2 4 2 20 27 20 27 4 2 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767841012 11 38130154 GCA G 420 PASS - - - - - Del - D 38130154 38130169 2 20 377.907 - - 7 1 1 - - ./. 0 0 0 0 23 21 23 21 0 0 ./. 3 4 7 4 30 24 30 24 7 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767844551 11 47826594 CGCAGAACACAG CT 319 PASS NUP160 CCDS31484.1 r.? - - Complex intronic DI 47826595 47826605 11 42 0 - - 0 1 1 NUP160|CCDS31484.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 NUP160|CCDS31484.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 25 22 25 22 0 0 ./. 5 6 0 0 21 23 21 23 5 6 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767861085 11 100488529 CTG C 540 PASS - - - - - Del - D 100488529 100488533 2 30 485.881 - - 1 1 1 - - ./. 0 0 0 0 20 22 20 22 0 0 ./. 5 4 6 4 23 17 23 17 6 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767864935 11 111660760 T TA 360 PASS ALG9 CCDS41714.1 r.? - - Ins intronic I 111660760 111660768 1 15 317.9 - - 7 1 1 ALG9|CCDS41714.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ALG9|CCDS41714.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 2 4 5 5 19 21 19 21 5 5 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767939062 13 69975527 T TA 420 PASS - - - - - Ins - I 69975527 69975531 1 20 374.531 - - 3 1 1 - - ./. 0 0 0 0 23 36 23 36 0 0 ./. 3 4 4 5 28 24 29 24 4 5 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767972244 14 69257104 CTG C 718 PASS ZFP36L1 CCDS9791.1 r.1959_1960delCA c.161_162delCA p.S54fs*20 Del frameshift D 69257104 69257107 2 50 702.985 - - 1 1 1 ZFP36L1|CCDS9791.1|r.1959_1960delCA|c.161_162delCA|p.S54fs*20|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ZFP36L1|CCDS9791.1|r.1959_1960delCA|c.161_162delCA|p.S54fs*20|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 9 6 11 25 31 25 31 6 11 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767978163 14 85576270 AT A 600 PASS - - - - - Del - D 85576270 85576272 1 36 540.48 - - 1 1 1 - - ./. 0 0 0 0 21 19 21 21 0 0 ./. 5 5 7 5 22 24 25 25 7 5 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2767988080 15 24914562 CA C 300 PASS - - - - - Del - D 24914562 24914567 1 10 271.01 - - 4 1 1 - - ./. 0 0 0 0 27 22 27 22 0 0 ./. 1 4 1 6 17 20 17 20 1 6 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768035546 16 63601598 TTC T 300 PASS - - - - - Del - D 63601598 63601614 2 6 270.89 - - 7 1 1 - - ./. 0 0 0 0 25 19 25 19 0 0 ./. 5 0 5 0 29 23 29 23 5 0 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768091496 18 50116305 TTGA T 360 PASS DCC CCDS11952.1 r.? - - Del intronic D 50116305 50116313 3 16 323.349 - - 2 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 29 24 29 0 0 ./. 3 3 3 3 21 28 21 28 3 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768096379 18 63697889 A AT 300 PASS - - - - - Ins - I 63697889 63697899 1 12 267.952 - - 9 1 1 - - ./. 0 0 0 0 28 29 29 29 0 0 ./. 2 3 5 3 18 21 18 22 5 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768122677 19 50774402 CAGA C 381 PASS MYH14 CCDS46151.1 r.? - - Del intronic D 50774402 50774408 3 18 379.722 - - 1 1 1 MYH14|CCDS46151.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYH14|CCDS46151.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 5 3 6 23 23 23 23 3 6 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768130823 2 13609940 TCAAA T 298 PASS - - - - - Del - D 13609940 13609947 4 15 322.453 - - 1 1 1 - - ./. 0 0 0 0 24 33 24 33 0 0 ./. 4 2 4 3 17 27 17 27 4 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768150069 2 68808562 G GT 660 PASS APLF CCDS1888.1 r.? - - Ins downstream I 68808562 68808564 1 42 584.541 - - 1 1 1 APLF|CCDS1888.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 PROKR1|CCDS1889.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 28 20 28 0 0 ./. 6 5 6 6 27 30 27 30 6 6 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768192575 2 202413725 TAC T 300 PASS ALS2CR11 CCDS2349.1 r.? - - Del intronic D 202413725 202413740 2 10 268.711 - - 7 1 1 ALS2CR11|CCDS2349.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALS2CR11|CCDS2349.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 24 12 24 0 0 ./. 4 1 4 1 18 21 18 21 4 1 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768194697 2 208472683 T TA 314 PASS CREB1 CCDS2375.1 r.? - - Ins downstream I 208472683 208472685 1 15 318.84 - - 1 1 1 CREB1|CCDS2375.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 FAM119A|ENST00000458426|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 14 24 15 0 0 ./. 4 2 4 3 16 13 17 13 4 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768195547 2 210734947 ATTGC A 449 PASS UNC80 CCDS46504.1 r.? - - Del intronic D 210734947 210734954 4 21 429.335 - - 1 1 1 UNC80|CCDS46504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC80|CCDS46504.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 19 27 19 0 0 ./. 6 2 8 3 25 24 25 24 8 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768201080 2 226902889 CAAAAAATTTG C 348 PASS - - - - - Del - D 226902889 226902900 10 48 643.099 - - 1 1 1 - - ./. 0 0 0 0 25 21 25 21 0 0 ./. 7 5 7 5 26 20 26 20 7 5 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768220414 20 40760892 A AT 360 PASS PTPRT CCDS42874.1 r.? - - Ins intronic I 40760892 40760894 1 15 322.285 - - 1 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 35 21 36 21 0 0 ./. 2 4 4 5 20 22 20 23 4 5 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768238731 21 32172167 AGTTT A 300 PASS - - - - - Del - D 32172167 32172180 4 12 271.025 - - 3 1 1 - - ./. 0 0 0 0 34 35 34 35 0 0 ./. 3 2 4 3 16 22 16 22 4 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768245819 22 17569199 C CTTATTTAT 290 PASS IL17RA CCDS13739.1 r.? - - Ins intronic I 17569199 17569224 8 36 497.228 - - 6 1 - IL17RA|CCDS13739.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL17RA|CCDS13739.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 24 25 24 0 0 ./. 5 5 3 5 31 31 33 32 5 5 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768246905 22 20705124 CCT C 340 PASS USP41 ENST00000454608 r.1169_1170delAG c.1169_1170delAG p.E390fs*5 Del frameshift D 20705124 20705131 2 33 646.644 - - 3 1 1 USP41|ENST00000454608|r.1169_1170delAG|c.1169_1170delAG|p.E390fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 USP41|ENST00000454608|r.1169_1170delAG|c.1169_1170delAG|p.E390fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 22 8 22 8 0 0 ./. 10 2 10 2 43 19 43 19 10 2 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768275505 3 49797501 C CT 300 PASS IP6K1 CCDS43092.1 r.? - - Ins intronic I 49797501 49797510 1 10 265.612 - - 8 1 1 IP6K1|CCDS43092.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 IP6K1|CCDS43092.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 29 15 29 0 0 ./. 1 4 2 5 13 17 13 17 2 5 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768330121 4 21513525 TTAA T 389 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 21513525 21513534 3 20 374.252 - - 2 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 19 22 19 0 0 ./. 3 4 4 4 27 31 27 31 4 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768352749 4 87759462 T TA 420 PASS SLC10A6 CCDS3614.1 r.? - - Ins intronic I 87759462 87759464 1 14 372.445 - - 1 1 1 SLC10A6|CCDS3614.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC10A6|CCDS3614.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 30 23 31 23 0 0 ./. 6 1 6 1 28 19 29 20 6 1 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768356041 4 97876696 A AT 420 PASS - - - - - Ins - I 97876696 97876706 1 18 372.445 - - 9 1 1 - - ./. 0 0 0 0 32 39 32 39 0 0 ./. 5 2 5 2 22 23 22 24 5 2 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768359507 4 109803738 TTG T 300 PASS COL25A1 CCDS43258.1 r.? - - Del intronic D 109803738 109803754 2 12 269.043 - - 7 1 1 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 23 16 23 0 0 ./. 2 3 3 4 30 26 30 26 3 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768430338 5 126883690 G GT 360 PASS PRRC1 CCDS4143.1 r.? - - Ins intronic I 126883690 126883698 1 12 319.788 - - 7 1 1 PRRC1|CCDS4143.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRRC1|ENST00000442138|r.1351_1352insu|c.1205_1206insT|p.V405fs*2|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 28 28 28 29 0 0 ./. 5 1 5 3 25 32 25 32 5 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768431083 5 129509085 A AT 300 PASS CHSY3 CCDS34223.1 r.? - - Ins intronic I 129509085 129509087 1 12 257.459 - - 1 1 1 CHSY3|CCDS34223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHSY3|CCDS34223.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 28 20 28 0 0 ./. 3 2 5 4 33 19 33 19 5 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768434533 5 140687831 CTGT C 360 PASS SLC25A2 CCDS4258.1 r.? - - Del upstream D 140687831 140687839 3 12 322.798 - - 2 1 1 SLC25A2|CCDS4258.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SLC25A2|CCDS4258.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 20 20 20 20 0 0 ./. 5 1 5 1 29 17 29 17 5 1 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768467570 6 50234289 TGA T 397 PASS - - - - - Del - D 50234289 50234292 2 18 377.194 - - 1 1 1 - - ./. 0 0 0 0 19 25 19 25 0 0 ./. 2 5 2 5 19 28 19 28 2 5 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768483944 6 100623923 GAGA G 300 PASS - - - - - Del - D 100623923 100623929 3 12 269.424 - - 1 1 1 - - ./. 0 0 0 0 19 28 19 28 0 0 ./. 2 3 3 6 18 37 18 37 3 6 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768495982 6 138529585 ATTAT A 269 PASS KIAA1244 CCDS5189.2 r.? - - Del intronic D 138529585 138529592 4 12 257.985 - - 1 1 1 KIAA1244|CCDS5189.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1244|CCDS5189.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 19 29 19 0 0 ./. 2 3 4 4 22 21 22 21 4 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768496204 6 139245816 CAGGAATAATATAGA CGAG 261 PASS REPS1 CCDS47488.1 r.? - - Complex intronic DI 139245817 139245830 14 28 0 - - 0 1 1 REPS1|CCDS47488.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 REPS1|CCDS47488.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 14 30 14 30 0 0 ./. 3 6 0 0 17 27 17 27 3 6 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768523163 7 44874601 TG T 300 PASS H2AFV CCDS5495.1 r.? - - Del intronic D 44874601 44874603 1 12 269.525 - - 1 1 1 H2AFV|CCDS5495.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 H2AFV|ENST00000446531|r.963delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 21 22 21 22 0 0 ./. 3 2 5 3 17 13 17 13 5 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768544897 7 106065328 ATC A 360 PASS - - - - - Del - D 106065328 106065348 2 16 323.43 - - 9 1 - - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 3 5 3 34 32 34 32 5 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768544975 7 106413598 C CT 360 PASS - - - - - Ins - I 106413598 106413606 1 15 318.011 - - 7 1 1 - - ./. 0 0 0 0 17 18 17 19 0 0 ./. 4 2 5 2 18 33 19 33 5 2 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768549755 7 122647939 T TG 300 PASS - - - - - Ins - I 122647939 122647948 1 12 261.096 - - 8 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 2 3 2 4 29 19 29 19 2 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768552979 7 131028622 T TA 360 PASS MKLN1 CCDS34754.1 r.? - - Ins intronic I 131028622 131028624 1 15 319.817 - - 1 1 1 MKLN1|CCDS34754.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MKLN1|CCDS34754.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 33 16 34 17 0 0 ./. 2 4 4 7 19 25 19 25 4 7 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768603811 8 129309884 CCTG C 269 PASS - - - - - Del - D 129309884 129309888 3 12 269.941 - - 1 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 2 3 2 3 14 17 14 17 2 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768607800 8 141993873 AG A 420 PASS PTK2 CCDS6381.1 r.? - - Del intronic D 141993873 141993877 1 20 377.918 - - 3 1 1 PTK2|CCDS6381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTK2|CCDS6381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 19 23 19 0 0 ./. 3 4 4 4 27 21 27 21 4 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768611840 9 8388831 AT A 300 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 8388831 8388836 1 12 270.24 - - 4 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 21 30 21 0 0 ./. 2 3 3 4 24 19 24 19 3 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768616981 9 24603885 TA T 300 PASS - - - - - Del - D 24603885 24603888 1 10 270.24 - - 2 1 1 - - ./. 0 0 0 0 20 32 20 32 0 0 ./. 1 4 5 5 35 33 35 33 5 5 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768631857 9 88311245 AATGGTGATATT A 290 PASS AGTPBP1 CCDS6672.1 r.? - - Del intronic D 88311245 88311258 11 32 539.276 - - 1 1 1 AGTPBP1|CCDS6672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGTPBP1|CCDS6672.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 30 30 30 0 0 ./. 7 3 7 4 20 25 20 25 7 4 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768671165 X 93062161 G GA 300 PASS - - - - - Ins - I 93062161 93062171 1 12 267.47 - - 9 1 1 - - ./. 0 0 0 0 19 24 20 24 0 0 ./. 3 2 3 3 29 25 29 25 3 3 1 1 1 1 1 1 1 1 2816441 PD18764a PD18764b 2768672330 X 97348723 TAC T 300 PASS - - - - - Del - D 97348723 97348741 2 12 267.47 - - 8 1 - - - ./. 0 0 0 0 15 29 15 29 0 0 ./. 2 3 2 3 21 14 21 14 2 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529096354 1 10145460 TC T 600 PASS UBE4B CCDS41245.1 r.? - - Del intronic D 10145460 10145464 1 32 537.775 - - 3 1 1 UBE4B|CCDS41245.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBE4B|CCDS41245.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 7 3 9 3 24 16 24 16 9 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529098006 1 16203610 CA C 660 PASS SPEN CCDS164.1 r.? - - Del intronic D 16203610 16203613 1 42 591.01 - - 2 1 1 SPEN|CCDS164.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPEN|CCDS164.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 6 9 7 20 25 20 25 9 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529101875 1 28060619 G GA 1140 PASS FAM76A CCDS44092.1 r.405_406insa c.381_382insA p.Y129fs*8 Ins frameshift I 28060619 28060622 1 110 1011.48 - - 2 1 1 FAM76A|CCDS44092.1|r.405_406insa|c.381_382insA|p.Y129fs*8|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 FAM76A|CCDS44092.1|r.405_406insa|c.381_382insA|p.Y129fs*8|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 12 14 12 14 0 0 ./. 10 9 12 12 20 31 20 31 12 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529104843 1 38775494 CTTTTTTT C 377 PASS - - - - - Del - D 38775494 38775502 7 56 699.89 - - 7 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 6 7 9 8 26 27 26 27 9 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529108954 1 53453011 CTTTG C 447 PASS SCP2 CCDS572.1 r.? - - Del intronic D 53453011 53453016 4 24 484.539 - - 1 1 1 SCP2|CCDS572.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCP2|CCDS572.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 7 2 11 4 28 8 28 8 11 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529117492 1 82613406 A AAC 689 PASS - - - - - Ins - I 82613406 82613408 2 48 616.551 - - 0 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 7 6 12 23 27 24 27 6 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529118347 1 85507674 GCA G 300 PASS MCOLN3 CCDS701.1 r.? - - Del intronic D 85507674 85507694 2 12 265.576 - - 9 1 - MCOLN3|CCDS701.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCOLN3|CCDS701.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 3 3 3 28 15 28 15 3 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529122445 1 99550419 CA C 780 PASS - - - - - Del - D 99550419 99550424 1 44 699.288 - - 4 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 10 3 13 6 31 20 31 20 13 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529126127 1 112583407 TTC T 869 PASS - - - - - Del - D 112583407 112583410 2 66 807.565 - - 1 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 10 5 11 6 16 15 16 15 11 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529126665 1 114378752 AT A 1320 PASS PTPN22 CCDS863.1 r.? - - Del intronic D 114378752 114378755 1 143 1184.43 - - 2 1 1 PTPN22|CCDS863.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN22|CCDS863.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 12 10 13 11 26 20 26 20 13 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529129089 1 142638413 AG A 472 PASS - - - - - Del - D 142638413 142638416 1 28 477.917 - - 2 1 1 - - ./. 0 0 0 0 38 32 38 32 0 0 ./. 3 6 5 8 57 42 57 42 5 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529131046 1 145292266 CAT C 441 PASS ENSG00000163386 ENST00000369339 r.? - - Del intronic D 145292266 145292271 2 48 645.45 - - 2 1 1 ENSG00000163386|ENST00000369339|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000163386|ENST00000369339|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 58 68 58 68 0 0 ./. 5 7 6 8 168 139 168 139 6 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529132508 1 150107206 AT A 480 PASS VPS45 CCDS944.1 r.? - - Del intronic D 150107206 150107212 1 24 430.702 - - 5 1 1 VPS45|CCDS944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS45|CCDS944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 5 3 7 5 27 22 27 22 7 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529133898 1 153978194 AT A 269 PASS NUP210L CCDS41399.1 r.? - - Del intronic D 153978194 153978204 1 6 256.545 - - 9 1 - NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 0 9 2 28 17 28 17 9 2 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529135832 1 159711715 C CA 506 PASS - - - - - Ins - I 159711715 159711717 1 28 473.702 - - 1 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 6 3 7 4 25 16 27 16 7 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529136874 1 162794312 TAACGTG T 319 PASS - - - - - Del - D 162794312 162794319 6 40 592.215 - - 1 1 1 - - ./. 0 0 0 0 4 10 4 10 0 0 ./. 7 4 7 5 32 14 32 14 7 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529137228 1 163792550 ACTCCAGAGCC A 348 PASS - - - - - Del - D 163792550 163792563 10 48 637.021 - - 1 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 7 5 9 7 34 28 34 28 9 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529139349 1 169944763 G GT 300 PASS KIFAP3 CCDS1288.1 r.? - - Ins intronic I 169944763 169944773 1 12 266.178 - - 9 1 1 KIFAP3|CCDS1288.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIFAP3|CCDS1288.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 3 2 3 2 45 43 45 44 3 2 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529141021 1 174778639 AT A 480 PASS RABGAP1L CCDS1314.1 r.? - - Del intronic D 174778639 174778643 1 25 428.895 - - 3 1 1 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 4 5 5 29 38 29 38 5 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529144200 1 184145376 CATTAT C 745 PASS - - - - - Del - D 184145376 184145382 5 72 805.157 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 8 7 9 7 23 25 23 25 9 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529147991 1 194735968 GT G 360 PASS - - - - - Del - D 194735968 194735970 1 7 320.016 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 6 0 8 0 41 27 41 27 8 0 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529148531 1 196566740 GA G 780 PASS KCNT2 CCDS1384.1 r.? - - Del intronic D 196566740 196566743 1 56 699.89 - - 2 1 1 KCNT2|CCDS1384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNT2|CCDS1384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 6 7 9 9 22 15 22 15 9 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529148968 1 198153285 A AT 1320 PASS NEK7 CCDS1394.1 r.? - - Ins intronic I 198153285 198153291 1 135 1171.18 - - 5 1 1 NEK7|CCDS1394.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NEK7|CCDS1394.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 14 8 18 13 34 36 34 36 18 13 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529153845 1 213522692 ACGT A 718 PASS - - - - - Del - D 213522692 213522696 3 54 699.288 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 8 7 10 25 20 25 20 7 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529156886 1 224323326 A AAG 269 PASS FBXO28 CCDS1539.1 r.? - - Ins intronic I 224323326 224323328 2 10 251.729 - - 0 1 - FBXO28|CCDS1539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBXO28|CCDS1539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 1 1 0 22 21 23 21 5 1 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529162158 1 240767918 AT A 416 PASS GREM2 CCDS31070.1 r.? - - Del intronic D 240767918 240767928 1 30 484.539 - - 9 1 1 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GREM2|CCDS31070.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 5 4 6 8 23 20 23 20 6 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529165439 10 951788 TG T 900 PASS LARP4B ENST00000406525 r.? - - Del intronic D 951788 951791 1 60 810.59 - - 2 1 1 LARP4B|ENST00000406525|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LARP4B|ENST00000406525|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 5 19 5 0 0 ./. 11 4 12 9 20 18 20 18 12 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529169025 10 10509715 GCAA G 776 PASS - - - - - Del - D 10509715 10509719 3 70 807.58 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 9 6 15 9 29 22 29 22 15 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529170897 10 15510671 AC A 749 PASS - - - - - Del - D 15510671 15510673 1 54 699.501 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 8 5 11 9 23 22 23 22 11 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529171983 10 18875383 CA C 269 PASS NSUN6 CCDS7130.1 r.? - - Del intronic D 18875383 18875385 1 10 268.391 - - 1 1 1 NSUN6|CCDS7130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NSUN6|CCDS7130.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 1 4 3 7 14 28 14 28 3 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529172044 10 19036736 AATTTT A 267 PASS - - - - - Del - D 19036736 19036744 5 15 323.634 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 4 3 8 14 18 14 18 3 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529175682 10 30496024 CAA C 300 PASS AL160060.2 ENST00000502624 r.? - - Del intronic D 30496024 30496027 2 10 270.197 - - 2 1 1 AL160060.2|ENST00000502624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL160060.2|ENST00000502624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 4 2 6 9 15 9 15 2 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529186773 10 68160054 CAT C 989 PASS CTNNA3 CCDS7269.1 r.? - - Del intronic D 68160054 68160058 2 88 918.669 - - 1 1 1 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNNA3|CCDS7269.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 7 10 11 13 27 27 27 27 11 13 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529187957 10 71205446 G GA 300 PASS - - - - - Ins - I 71205446 71205450 1 6 263.574 - - 3 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 5 0 10 2 17 11 17 11 10 2 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529191627 10 84281874 ACTGC A 629 PASS NRG3 CCDS31233.1 r.? - - Del intronic D 84281874 84281879 4 30 589.014 - - 1 1 1 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 9 3 11 15 17 15 17 3 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529195197 10 96481579 GGT G 300 PASS CYP2C18 CCDS7435.1 r.? - - Del intronic D 96481579 96481597 2 10 267.789 - - 8 1 1 CYP2C18|CCDS7435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYP2C18|CCDS7435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 15 22 15 0 0 ./. 1 4 2 4 19 24 19 24 2 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529200226 10 114119919 GTCTATAAAC G 348 PASS - - - - - Del - D 114119919 114119930 9 45 647.268 - - 1 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 8 5 9 11 19 11 19 5 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529201063 10 117541572 TAATATC T 464 PASS ATRNL1 CCDS7592.1 r.? - - Del intronic D 117541572 117541580 6 77 864.63 - - 1 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 10 6 15 5 33 20 33 21 15 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529202183 10 121060791 GT G 360 PASS GRK5 CCDS7612.1 r.? - - Del intronic D 121060791 121060794 1 12 322.43 - - 2 1 1 GRK5|CCDS7612.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRK5|CCDS7612.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 1 5 4 9 17 20 17 20 4 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529202747 10 122704860 A AT 360 PASS - - - - - Ins - I 122704860 122704864 1 15 320.624 - - 3 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 2 6 5 15 16 16 16 6 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529203285 10 124089023 CG C 480 PASS BTBD16 CCDS31301.1 r.1192delG c.941delG p.D315fs*2 Del frameshift D 124089023 124089027 1 16 431.713 - - 3 1 1 BTBD16|CCDS31301.1|r.1192delG|c.941delG|p.D315fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 BTBD16|CCDS31301.1|r.1192delG|c.941delG|p.D315fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 8 11 8 0 0 ./. 7 1 7 3 22 12 22 12 7 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529209350 11 8191332 TC T 540 PASS RIC3 CCDS7788.1 r.? - - Del upstream D 8191332 8191334 1 28 485.925 - - 1 1 1 RIC3|CCDS7788.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 RIC3|CCDS7788.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 16 15 16 0 0 ./. 6 3 7 5 20 19 20 19 7 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529211851 11 16527081 G GA 360 PASS - - - - - Ins - I 16527081 16527090 1 15 318.13 - - 8 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 2 9 7 32 23 32 23 9 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529219953 11 41221273 TC T 300 PASS - - - - - Del - D 41221273 41221275 1 12 270.627 - - 1 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 2 3 2 26 24 26 24 3 2 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529223118 11 51517257 CA C 809 PASS OR4C46 CCDS31498.1 r.? - - Del downstream D 51517257 51517261 1 63 757.154 - - 3 1 1 OR4C46|CCDS31498.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OR4C46|CCDS31498.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 16 13 16 13 0 0 ./. 8 6 10 6 22 20 22 20 10 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529224524 11 59965471 TG T 809 PASS MS4A4E ENST00000427611 r.? - - Del downstream D 59965471 59965473 1 63 755.348 - - 1 1 1 MS4A4E|ENST00000427611|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MS4A4E|ENST00000427611|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 17 12 17 0 0 ./. 8 6 11 7 26 24 26 24 11 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529227303 11 69642665 TTTTA T 720 PASS - - - - - Del - D 69642665 69642677 4 40 648.904 - - 2 1 1 - - ./. 0 0 0 0 4 10 4 10 0 0 ./. 3 9 5 12 16 24 16 24 5 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529227946 11 72127127 AAC A 420 PASS CLPB CCDS8215.1 r.? - - Del intronic D 72127127 72127133 2 20 378.878 - - 2 1 1 CLPB|CCDS8215.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLPB|CCDS8215.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 4 5 5 11 16 11 16 5 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529228349 11 73560632 G GT 780 PASS MRPL48 CCDS44676.1 r.? - - Ins intronic I 73560632 73560639 1 54 695.804 - - 6 1 1 MRPL48|CCDS44676.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MRPL48|CCDS44676.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 17 12 17 0 0 ./. 8 5 10 7 23 16 23 17 10 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529230428 11 81144238 G GT 296 PASS - - - - - Ins - I 81144238 81144244 1 20 373.46 - - 5 1 1 - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 3 4 7 4 22 12 22 12 7 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529232381 11 88189015 AC A 300 PASS - - - - - Del - D 88189015 88189017 1 6 270.627 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 0 6 0 19 31 19 31 6 0 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529233289 11 91149439 T TA 780 PASS - - - - - Ins - I 91149439 91149441 1 54 692.192 - - 1 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 5 8 7 10 19 23 20 23 7 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529238512 11 107701820 GGCACAAT G 348 PASS SLC35F2 CCDS41709.1 r.? - - Del intronic D 107701820 107701828 7 48 648.904 - - 1 1 1 SLC35F2|CCDS41709.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC35F2|CCDS41709.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 5 7 6 7 17 15 17 15 6 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529239082 11 109874681 AT A 540 PASS - - - - - Del - D 109874681 109874687 1 28 486.527 - - 5 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 6 6 7 20 23 20 23 6 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529239845 11 112243997 TTCACA TTC 534 PASS - - - - - Complex - DI 112243998 112244002 5 40 0 - - 0 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 3 9 0 0 28 24 28 24 3 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529240073 11 113012789 ACAG AT 627 PASS NCAM1 ENST00000404693 r.? - - Complex intronic DI 113012790 113012792 3 49 0 - - 0 1 1 NCAM1|ENST00000404693|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 NCAM1|ENST00000404693|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 6 6 0 0 20 26 20 26 6 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529242665 11 122036079 AC A 600 PASS - - - - - Del - D 122036079 122036088 1 27 540.653 - - 8 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 8 4 11 15 27 15 27 4 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529243119 11 123522919 CCT C 540 PASS SCN3B CCDS8442.1 r.? - - Del intronic D 123522919 123522923 2 30 487.129 - - 1 1 1 SCN3B|CCDS8442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCN3B|CCDS8442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 5 9 8 21 25 21 25 9 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529245212 11 131011074 AT A 929 PASS - - - - - Del - D 131011074 131011078 1 81 865.405 - - 3 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 8 8 9 10 30 19 30 19 9 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529245249 11 131200820 AG A 600 PASS - - - - - Del - D 131200820 131200822 1 35 541.255 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 6 10 8 22 24 22 24 10 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529249277 12 9417737 TAATTCAA T 522 PASS - - - - - Del - D 9417737 9417746 7 99 973.392 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 10 8 11 9 28 21 28 21 11 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529253467 12 21536449 CTCTGGGA C 319 PASS SLCO1A2 CCDS8686.1 r.? - - Del intronic D 21536449 21536460 7 40 595.586 - - 1 1 1 SLCO1A2|CCDS8686.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLCO1A2|CCDS8686.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 7 4 7 5 13 16 13 16 7 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529255179 12 26674824 ACT A 1409 PASS ITPR2 CCDS41764.1 r.? - - Del intronic D 26674824 26674829 2 165 1296.45 - - 2 1 1 ITPR2|CCDS41764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITPR2|CCDS41764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 14 10 15 11 26 33 26 33 15 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529259940 12 44285016 AT A 540 PASS TMEM117 CCDS8745.1 r.? - - Del intronic D 44285016 44285018 1 28 486.094 - - 1 1 1 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM117|CCDS8745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 3 6 3 6 17 15 17 15 3 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529262562 12 53664772 TACAACAGCAGACAC T 290 PASS ESPL1 CCDS8852.1 r.? - - Del intronic D 53664772 53664787 14 36 540.238 - - 1 1 1 ESPL1|CCDS8852.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESPL1|CCDS8852.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 5 5 5 5 17 14 17 14 5 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529264877 12 62048750 GTCCCCATGACACAAACACC G 290 PASS - - - - - Del - D 62048750 62048774 19 32 536.626 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 7 3 6 14 15 14 16 3 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529270035 12 80532089 AGTTTCCTCATC A 464 PASS - - - - - Del - D 80532089 80532101 11 81 866.308 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 8 8 8 8 14 23 14 23 8 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529270089 12 80715954 G GA 780 PASS C12orf64 ENST00000442704 r.? - - Ins intronic I 80715954 80715956 1 50 695.446 - - 1 1 1 C12orf64|ENST00000442704|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C12orf64|ENST00000442704|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 9 4 9 5 22 19 22 20 9 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529274375 12 96103041 GGAAAGGAAGG GAAAGGATT 290 PASS NTN4 CCDS9054.1 r.? - - Complex intronic DI 96103042 96103051 10 35 0 - - 0 1 1 NTN4|CCDS9054.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 NTN4|CCDS9054.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 6 4 0 0 15 14 15 14 6 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529275770 12 101002442 GGCGCCTGGCACCGTGCCCAGC G 348 PASS GAS2L3 CCDS9079.1 r.? - - Del intronic D 101002442 101002464 21 48 632.873 - - 1 1 1 GAS2L3|CCDS9079.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAS2L3|CCDS9079.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 7 4 6 11 14 12 15 5 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529280984 12 120420419 TC T 660 PASS - - - - - Del - D 120420419 120420422 1 42 595.586 - - 2 1 1 - - ./. 0 0 0 0 16 3 16 3 0 0 ./. 5 6 7 8 18 17 18 17 7 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529282303 12 124571804 AG A 540 PASS - - - - - Del - D 124571804 124571806 1 28 486.696 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 6 3 9 5 23 12 23 12 9 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529282633 12 125489779 AAG A 420 PASS BRI3BP CCDS9262.1 r.? - - Del intronic D 125489779 125489783 2 20 379.01 - - 1 1 1 BRI3BP|CCDS9262.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRI3BP|CCDS9262.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 4 4 6 12 15 12 15 4 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529287798 13 24736854 CTATAA C 561 PASS SPATA13 CCDS9305.1 r.? - - Del intronic D 24736854 24736861 5 63 757.004 - - 1 1 1 SPATA13|CCDS9305.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SPATA13|CCDS9305.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 8 8 8 25 17 25 17 8 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529289105 13 28312999 C CA 480 PASS - - - - - Ins - I 28312999 28313008 1 25 429.134 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 4 8 8 23 25 23 25 8 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529291983 13 37560546 AT A 660 PASS ALG5 CCDS9361.1 r.? - - Del intronic D 37560546 37560548 1 36 594.875 - - 1 1 1 ALG5|CCDS9361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALG5|CCDS9361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 8 3 8 7 25 24 25 24 8 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529295229 13 48331746 T TA 720 PASS - - - - - Ins - I 48331746 48331749 1 45 643.098 - - 2 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 8 4 13 4 30 15 30 16 13 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529298523 13 61354079 CAGG CA 418 PASS - - - - - Complex - DI 61354080 61354082 3 21 0 - - 0 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 6 2 0 0 24 16 24 16 6 2 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529300051 13 65349224 AGTAAATATTATGCTCAAAG A 394 PASS - - - - - Del - D 65349224 65349252 19 60 758.811 - - 1 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 9 5 8 5 22 28 23 28 9 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529301604 13 70445936 AGACTT AGC 567 PASS KLHL1 CCDS9445.1 r.? - - Complex intronic DI 70445937 70445941 5 36 0 - - 0 1 1 KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 8 0 0 13 26 13 26 3 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529309163 13 95431914 TG T 720 PASS AL139381.2 ENST00000505287 r.? - - Del intronic D 95431914 95431917 1 40 649.119 - - 2 1 1 AL139381.2|ENST00000505287|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL139381.2|ENST00000505287|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 9 3 10 5 28 15 28 15 10 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529310457 13 99631661 CA C 660 PASS DOCK9 CCDS45062.1 r.? - - Del upstream D 99631661 99631663 1 42 596.079 - - 1 1 1 DOCK9|CCDS45062.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 DOCK9|ENST00000400220|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 5 6 5 9 21 20 21 20 5 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529311672 13 103321980 GAGGGGAC G 319 PASS TPP2 CCDS9502.1 r.? - - Del intronic D 103321980 103321989 7 40 596.681 - - 1 1 1 TPP2|CCDS9502.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TPP2|CCDS9502.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 7 4 7 4 21 11 21 11 7 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529313180 13 107695308 TTCCA TG 255 PASS - - - - - Complex - DI 107695309 107695312 4 16 0 - - 0 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 3 0 0 17 17 17 17 3 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529314785 13 112639027 AG A 720 PASS - - - - - Del - D 112639027 112639030 1 45 650.925 - - 2 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 8 4 8 7 19 18 19 18 8 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529316410 14 21918048 T TA 637 PASS - - - - - Ins - I 21918048 21918052 1 42 590.738 - - 3 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 5 9 8 21 25 22 25 9 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529328165 14 59301032 A AG 629 PASS - - - - - Ins - I 59301032 59301036 1 42 585.319 - - 3 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 5 6 6 18 20 18 20 6 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529328518 14 60725487 AG A 1200 PASS PPM1A CCDS9744.1 r.? - - Del intronic D 60725487 60725490 1 120 1084.91 - - 2 1 1 PPM1A|CCDS9744.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PPM1A|CCDS9744.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 11 9 12 10 25 24 25 24 12 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529328699 14 61416505 A AT 269 PASS MNAT1 CCDS9750.1 r.? - - Ins intronic I 61416505 61416515 1 10 258.282 - - 9 1 1 MNAT1|CCDS9750.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MNAT1|CCDS9750.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 16 0 0 ./. 4 1 4 1 29 34 30 35 4 1 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529331312 14 69768037 AT A 780 PASS GALNTL1 CCDS32107.1 r.? - - Del intronic D 69768037 69768040 1 54 699.951 - - 2 1 1 GALNTL1|CCDS32107.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNTL1|CCDS32107.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 18 4 18 0 0 ./. 5 8 9 12 22 30 22 30 9 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529333489 14 77073133 G GA 360 PASS - - - - - Ins - I 77073133 77073140 1 16 320.415 - - 6 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 3 9 4 18 17 18 17 9 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529334185 14 78916644 TG T 1080 PASS - - - - - Del - D 78916644 78916647 1 99 975.091 - - 2 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 8 10 11 15 19 29 19 29 11 15 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529335244 14 83150119 TG T 569 PASS - - - - - Del - D 83150119 83150121 1 35 543.055 - - 1 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 6 4 10 10 24 20 24 20 10 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529339347 14 96444456 G GA 690 PASS - - - - - Ins - I 96444456 96444457 1 60 751.848 - - 0 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 5 9 6 10 25 31 25 31 6 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529346249 15 29688905 C CT 629 PASS FAM189A1 CCDS45198.1 r.? - - Ins intronic I 29688905 29688910 1 42 589.279 - - 4 1 1 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 19 8 19 0 0 ./. 6 5 8 6 22 27 22 27 8 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529347181 15 33193953 T TAC 360 PASS FMN1 CCDS45209.1 r.? - - Ins intronic I 33193953 33193966 2 16 318.798 - - 6 1 1 FMN1|CCDS45209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMN1|CCDS45209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 3 6 8 20 30 21 30 6 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529348218 15 35710366 CG C 660 PASS ATPBD4 CCDS10043.1 r.? - - Del intronic D 35710366 35710368 1 36 597.708 - - 1 1 1 ATPBD4|CCDS10043.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATPBD4|CCDS10043.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 8 6 9 18 17 18 17 6 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529350058 15 41466018 AT A 358 PASS - - - - - Del - D 41466018 41466022 1 18 379.155 - - 3 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 2 8 3 24 21 24 21 8 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529358244 15 67439501 A AAG 480 PASS SMAD3 CCDS10222.1 r.? - - Ins intronic I 67439501 67439516 2 25 423.859 - - 7 1 1 SMAD3|CCDS10222.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMAD3|CCDS10222.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 4 4 5 18 16 18 16 4 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529358438 15 68095263 AG A 600 PASS MAP2K5 CCDS10224.1 r.? - - Del intronic D 68095263 68095266 1 36 534.942 - - 2 1 1 MAP2K5|CCDS10224.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP2K5|CCDS10224.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 5 5 6 20 17 20 17 5 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529358618 15 68585856 CTGT C 749 PASS FEM1B CCDS10228.1 r.4776_4778delUGU c.? p.? Del 3'UTR variant D 68585856 68585862 3 56 706.382 - - 1 1 1 FEM1B|CCDS10228.1|r.4776_4778delUGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 FEM1B|CCDS10228.1|r.4776_4778delUGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 13 14 13 0 0 ./. 7 6 10 8 24 22 24 22 10 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529359807 15 72854125 CCAACATGGCGAAACCCTGTCTCTT C 261 PASS MIR630 CCDS10244.1 r.? - - Del intronic D 72854125 72854151 24 30 478.798 - - 1 1 1 MIR630|CCDS10244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR630|CCDS10244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 5 3 4 15 15 16 16 4 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529365285 15 92120081 TG T 480 PASS - - - - - Del - D 92120081 92120084 1 25 434.696 - - 2 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 4 6 5 20 13 20 13 6 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529365384 15 92624488 TA T 509 PASS SLCO3A1 CCDS10371.1 r.? - - Del intronic D 92624488 92624491 1 30 486.625 - - 2 1 1 SLCO3A1|CCDS10371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLCO3A1|CCDS10371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 5 7 9 15 20 15 20 7 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529366458 15 96021298 GAAGAAAGGTCATGAGATTTAT G 406 PASS - - - - - Del - D 96021298 96021320 21 55 760.117 - - 1 1 1 - - ./. 0 0 0 0 13 24 13 24 0 0 ./. 4 10 4 10 17 22 17 22 4 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529368785 16 895913 GA G 749 PASS - - - - - Del - D 895913 895918 1 50 703.461 - - 4 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 4 9 9 10 23 27 23 27 9 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529372166 16 10903272 GC G 420 PASS FAM18A CCDS45408.1 r.? - - Del intronic D 10903272 10903275 1 20 379.481 - - 2 1 1 FAM18A|CCDS45408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM18A|CCDS45408.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 4 3 8 11 20 11 20 3 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529372608 16 12050758 AGGAG A 745 PASS - - - - - Del - D 12050758 12050765 4 72 814.464 - - 1 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 7 8 8 8 14 26 14 26 8 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529374739 16 19389995 CA C 507 PASS - - - - - Del - D 19389995 19389997 1 36 541.772 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 5 8 7 21 21 21 21 8 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529376196 16 24546239 TC T 480 PASS RBBP6 CCDS45444.1 r.? - - Del upstream D 24546239 24546241 1 24 434.381 - - 1 1 1 RBBP6|CCDS45444.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RBBP6|CCDS45444.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 3 5 7 15 24 15 24 5 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529379735 16 33543350 TA T 816 PASS - - - - - Del - D 33543350 33543358 1 60 760.166 - - 7 1 1 - - ./. 0 0 0 0 54 83 54 83 0 0 ./. 9 5 12 8 134 127 134 127 12 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529386360 16 64804541 AG A 600 PASS - - - - - Del - D 64804541 64804544 1 32 542.374 - - 2 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 7 3 9 8 17 18 17 18 9 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529388142 16 71062480 TC T 300 PASS HYDIN2 CCDS42189.1 r.? - - Del intronic D 71062480 71062485 1 12 269.08 - - 4 1 1 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 24 21 24 0 0 ./. 2 3 6 3 55 55 55 55 6 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529388495 16 71871792 TC T 600 PASS - - - - - Del - D 71871792 71871795 1 32 533.343 - - 2 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 7 5 8 17 24 17 24 5 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529389078 16 73698055 AC A 720 PASS - - - - - Del - D 73698055 73698058 1 48 651.571 - - 2 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 7 5 10 7 35 18 35 18 10 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529389487 16 74837670 AAATT A 538 PASS - - - - - Del - D 74837670 74837676 4 35 541.772 - - 1 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 6 5 11 23 25 23 25 5 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529390434 16 77634744 TAAGGAAAAAGAATAAAGTCATTATCCATAGAGACACAGCAATTGAAATTACTGCAGATTTGTCACTAGAAACTGATAGTTACAGGAGGCAGCTCAATGCCTAGGCAGAAAGGGGCAGATCCCTGTTGAAACCCCACCTCCAAGGCAAAGACAATTTAAAGCCTGAAAGCCAAGCTACAGGTTAAATCCTCAGACCAGATTGAGAAC T 319 PASS - - - - - Del - D 77634744 77634951 206 42 597.274 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 6 0 0 15 15 20 21 5 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529390628 16 78171079 CA C 660 PASS WWOX CCDS42196.1 r.? - - Del intronic D 78171079 78171082 1 42 596.069 - - 2 1 1 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WWOX|CCDS42196.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 6 11 10 26 21 26 21 11 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529393008 16 86265536 TC T 869 PASS - - - - - Del - D 86265536 86265539 1 72 812.658 - - 2 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 7 8 9 8 24 20 24 20 9 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529394405 17 757032 GGCT G 300 PASS NXN CCDS10998.1 r.? - - Del intronic D 757032 757036 3 12 269.756 - - 1 1 1 NXN|CCDS10998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NXN|CCDS10998.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 5 15 5 0 0 ./. 3 2 5 3 24 7 24 7 5 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529395845 17 4341306 TCTC T 838 PASS SPNS3 CCDS11045.1 r.? - - Del intronic D 4341306 4341312 3 70 805.054 - - 1 1 1 SPNS3|CCDS11045.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPNS3|CCDS11045.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 6 9 7 11 18 22 18 22 7 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529401349 17 20748283 GC G 403 PASS - - - - - Del - D 20748283 20748286 1 36 543.124 - - 2 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 5 5 8 8 25 25 25 25 8 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529403368 17 27620252 G GC 569 PASS NUFIP2 CCDS32600.1 r.? - - Ins intronic I 27620252 27620261 1 35 528.675 - - 8 1 1 NUFIP2|CCDS32600.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUFIP2|CCDS32600.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 6 6 9 11 18 11 18 6 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529405409 17 35424813 TAA T 660 PASS - - - - - Del - D 35424813 35424817 2 40 588.406 - - 3 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 7 6 9 16 20 16 20 6 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529405435 17 35509194 GC G 569 PASS ACACA CCDS11317.1 r.? - - Del intronic D 35509194 35509198 1 32 533.491 - - 3 1 1 ACACA|CCDS11317.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACACA|CCDS11317.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 7 3 7 6 21 15 21 15 7 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529407668 17 42464281 AC A 749 PASS ITGA2B CCDS32665.1 r.? - - Del intronic D 42464281 42464285 1 36 698.235 - - 3 1 1 ITGA2B|CCDS32665.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGA2B|CCDS32665.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 11 5 12 19 25 19 25 5 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529410338 17 49631625 TATG T 269 PASS - - - - - Del - D 49631625 49631632 3 12 270.96 - - 2 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 3 2 5 2 20 7 20 7 5 2 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529413366 17 59885322 TAGTATAACTTTTAAA T 377 PASS BRIP1 CCDS11631.1 r.? - - Del intronic D 59885322 59885340 15 56 704.858 - - 1 1 1 BRIP1|CCDS11631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BRIP1|CCDS11631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 7 6 7 6 17 21 17 21 7 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529416276 17 68583729 G GT 960 PASS - - - - - Ins - I 68583729 68583739 1 80 857.56 - - 9 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 7 9 9 10 30 26 30 26 9 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529418785 17 76167781 TC T 540 PASS SYNGR2 CCDS11753.1 r.? - - Del intronic D 76167781 76167787 1 30 488.812 - - 5 1 1 SYNGR2|CCDS11753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYNGR2|CCDS11753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 5 4 6 10 16 10 16 5 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529421995 18 3585512 AT A 840 PASS DLGAP1 CCDS11836.1 r.? - - Del intronic D 3585512 3585515 1 60 759.923 - - 2 1 1 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 9 5 9 10 24 24 24 24 9 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529424156 18 11003835 A AT 600 PASS - - - - - Ins - I 11003835 11003842 1 36 537.212 - - 6 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 5 5 7 5 24 21 24 21 7 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529424365 18 11816357 A AC 660 PASS GNAL CCDS11851.1 r.? - - Ins intronic I 11816357 11816359 1 40 590.933 - - 1 1 1 GNAL|CCDS11851.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GNAL|CCDS11851.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 16 7 16 0 0 ./. 4 7 5 7 14 14 14 17 5 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529426271 18 20537818 TGCTTCA T 464 PASS RBBP8 CCDS11875.1 r.? - - Del intronic D 20537818 20537825 6 80 868.57 - - 1 1 1 RBBP8|CCDS11875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBBP8|CCDS11875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 9 7 9 11 35 28 35 28 9 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529429337 18 31403488 GA G 720 PASS - - - - - Del - D 31403488 31403490 1 48 648.266 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 7 7 11 15 25 15 25 7 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529434115 18 48602713 CAGAT C 1045 PASS SMAD4 CCDS11950.1 r.? - - Del intronic D 48602713 48602718 4 112 1078.64 - - 1 1 1 SMAD4|CCDS11950.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMAD4|CCDS11950.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 13 7 13 9 23 21 23 21 13 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529434700 18 50572171 GA G 720 PASS DCC CCDS11952.1 r.? - - Del intronic D 50572171 50572175 1 33 650.675 - - 3 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 10 2 16 4 42 15 42 15 16 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529435071 18 51535592 G GA 830 PASS - - - - - Ins - I 51535592 51535596 1 72 805.818 - - 3 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 7 8 8 10 21 30 22 30 8 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529440000 18 67291275 TC T 1080 PASS DOK6 CCDS32841.1 r.? - - Del intronic D 67291275 67291278 1 100 971.196 - - 2 1 1 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 9 9 10 10 23 23 23 23 10 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529446261 19 8224027 GTTGCAGTGAACTAAGA G 261 PASS - - - - - Del - D 8224027 8224045 16 18 487.784 - - 1 1 1 - - ./. 0 0 0 0 4 14 4 14 0 0 ./. 1 8 1 8 10 22 10 22 1 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529446565 19 8968243 CATC CTA 540 PASS ENSG00000205631 ENST00000380951 r.? - - Complex intronic DI 8968244 8968246 3 30 0 - - 0 1 1 ENSG00000205631|ENST00000380951|r.?|-|-|protein_coding:three_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:1000032:SO:0001627 ENSG00000205631|ENST00000380951|r.?|-|-|protein_coding:three_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 4 0 0 17 27 17 27 5 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529452582 19 28336459 GAA G 478 PASS - - - - - Del - D 28336459 28336462 2 30 487.182 - - 2 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 4 5 5 16 16 16 16 5 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529453263 19 30645329 CGAT C 596 PASS - - - - - Del - D 30645329 30645338 3 45 644.961 - - 2 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 8 8 10 21 23 21 23 8 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529454560 19 35169573 GTGTGACAGGTGCCGCAAGATAAGCCCGATTTTTCA G 348 PASS ZNF302 CCDS46042.1 r.? - - Del intronic D 35169573 35169611 35 45 652.185 - - 1 1 1 ZNF302|CCDS46042.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF302|CCDS46042.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 8 4 3 2 10 12 15 14 8 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529455800 19 38914494 A AATC 300 PASS RASGRP4 CCDS46068.1 r.? - - Ins intronic I 38914494 38914497 3 12 262.964 - - 0 1 - RASGRP4|CCDS46068.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RASGRP4|CCDS46068.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 4 4 18 16 18 17 4 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529456957 19 43493959 GA G 538 PASS PSG1 ENST00000449000 r.? - - Del intronic D 43493959 43493962 1 32 531.948 - - 2 1 1 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 7 5 10 28 14 28 14 5 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529458872 19 48645973 TCAC TG 563 PASS LIG1 CCDS12711.1 r.? - - Complex intronic DI 48645974 48645976 3 56 0 - - 0 1 1 LIG1|CCDS12711.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 LIG1|CCDS12711.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 7 6 0 0 19 11 19 11 7 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529467282 2 15274682 TAAA T 747 PASS - - - - - Del - D 15274682 15274687 3 48 754.249 - - 4 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 11 3 12 4 23 14 23 14 12 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529471408 2 30190024 A AT 300 PASS - - - - - Ins - I 30190024 30190033 1 10 265.762 - - 8 1 1 - - ./. 0 0 0 0 11 21 11 22 0 0 ./. 1 4 2 6 29 23 30 23 2 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529472031 2 32751017 CA C 720 PASS BIRC6 CCDS33175.2 r.? - - Del intronic D 32751017 32751021 1 49 646.499 - - 3 1 1 BIRC6|CCDS33175.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BIRC6|CCDS33175.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 6 6 9 12 18 25 18 25 9 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529474357 2 39543948 TTA T 540 PASS MAP4K3 CCDS1803.1 r.? - - Del intronic D 39543948 39543951 2 30 484.875 - - 1 1 1 MAP4K3|CCDS1803.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP4K3|CCDS1803.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 4 8 8 22 18 22 18 8 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529478057 2 52374836 TTATCCAG T 377 PASS - - - - - Del - D 52374836 52374845 7 50 700.374 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 9 4 10 4 24 20 24 20 10 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529478494 2 54053408 CA C 898 PASS ASB3 ENST00000406625 r.? - - Del intronic D 54053408 54053410 1 72 859.591 - - 1 1 1 ASB3|ENST00000406625|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASB3|ENST00000406625|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 11 6 13 24 28 24 28 6 13 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529479328 2 56575765 CT C 540 PASS CCDC85A CCDS46290.1 r.? - - Del intronic D 56575765 56575767 1 30 484.875 - - 1 1 1 CCDC85A|CCDS46290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC85A|CCDS46290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 4 5 6 8 17 17 17 17 6 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529481303 2 63825858 AAAGATTAG A 435 PASS MDH1 CCDS1874.1 r.? - - Del intronic D 63825858 63825873 8 72 807.522 - - 1 1 1 MDH1|CCDS1874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDH1|CCDS1874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 7 8 7 8 28 21 28 21 7 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529481560 2 64859730 AC A 447 PASS SERTAD2 CCDS33210.1 r.4573delG c.? p.? Del 3'UTR variant D 64859730 64859734 1 18 484.875 - - 3 1 1 SERTAD2|CCDS33210.1|r.4573delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SERTAD2|CCDS33210.1|r.4573delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 13 14 13 0 0 ./. 1 8 3 11 16 22 16 22 3 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529482635 2 68461432 GCCACTGCACT G 319 PASS PPP3R1 CCDS46310.1 r.? - - Del intronic D 68461432 68461446 10 42 583.594 - - 1 1 1 PPP3R1|CCDS46310.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP3R1|CCDS46310.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 6 5 0 0 18 18 18 18 6 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529483971 2 74442960 T TC 689 PASS MTHFD2 CCDS1935.2 r.2724_2725insc c.? p.? Ins 3'UTR variant I 74442960 74442963 1 40 632.652 - - 2 1 1 MTHFD2|CCDS1935.2|r.2724_2725insc|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 MTHFD2|CCDS1935.2|r.2724_2725insc|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 9 11 9 11 0 0 ./. 9 3 15 4 27 14 27 14 15 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529484024 2 74999454 AT A 629 PASS - - - - - Del - D 74999454 74999457 1 40 592.624 - - 2 1 1 - - ./. 0 0 0 0 11 23 11 23 0 0 ./. 7 4 10 7 21 24 21 24 10 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529486277 2 83031658 CAAG C 749 PASS - - - - - Del - D 83031658 83031667 3 44 691.945 - - 2 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 10 7 11 23 26 23 26 7 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529490174 2 100131476 CA C 597 PASS - - - - - Del - D 100131476 100131478 1 35 521.29 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 6 4 7 7 18 23 18 23 7 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529494625 2 116712299 TTCTC T 805 PASS - - - - - Del - D 116712299 116712304 4 72 861.999 - - 2 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 11 7 12 18 23 18 23 7 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529495377 2 119001274 G GC 480 PASS - - - - - Ins - I 119001274 119001277 1 25 425.581 - - 2 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 4 4 7 7 22 21 22 21 7 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529496759 2 123933497 ATTTTTGCATGTGAAACATAT A 609 PASS - - - - - Del - D 123933497 123933522 20 126 1131.37 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 8 13 8 12 24 30 24 31 8 13 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529497285 2 125608359 GA G 720 PASS CNTNAP5 CCDS46401.1 r.? - - Del intronic D 125608359 125608365 1 45 646.499 - - 5 1 1 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP5|CCDS46401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 8 4 14 7 21 16 21 16 14 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529499016 2 131660177 G GGAAAGAAAAGAAA 319 PASS ARHGEF4 ENST00000409359 r.? - - Ins intronic I 131660177 131660190 13 40 503.52 - - 0 1 - ARHGEF4|ENST00000409359|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ARHGEF4|ENST00000409359|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 7 4 6 17 18 17 18 4 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529499224 2 132267862 TC T 325 PASS - - - - - Del - D 132267862 132267866 1 20 376.523 - - 3 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 3 4 6 9 15 15 15 15 6 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529502095 2 140719591 TCAAA T 538 PASS - - - - - Del - D 140719591 140719599 4 35 536.943 - - 1 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 4 7 4 27 18 27 18 7 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529507650 2 160099294 TA T 780 PASS WDSUB1 CCDS2208.1 r.? - - Del intronic D 160099294 160099299 1 56 699.17 - - 4 1 1 WDSUB1|CCDS2208.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDSUB1|CCDS2208.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 6 7 7 8 20 19 20 19 7 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529507908 2 160820257 GAGAAATTGAA G 319 PASS PLA2R1 CCDS33309.1 r.? - - Del intronic D 160820257 160820269 10 40 584.798 - - 1 1 1 PLA2R1|CCDS33309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLA2R1|CCDS33309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 7 4 8 19 23 19 23 4 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529508485 2 163492998 CT C 1080 PASS KCNH7 CCDS2219.1 r.? - - Del intronic D 163492998 163493001 1 99 969.147 - - 2 1 1 KCNH7|CCDS2219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH7|CCDS2219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 8 10 10 10 19 25 19 25 10 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529508597 2 163949117 ATGT A 989 PASS - - - - - Del - D 163949117 163949124 3 78 915.874 - - 2 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 5 12 6 16 19 32 19 32 6 16 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529508612 2 164062776 T TA 660 PASS - - - - - Ins - I 164062776 164062778 1 42 586.002 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 5 11 9 28 21 28 21 11 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529512601 2 176642138 GAGACTGGACAA G 464 PASS - - - - - Del - D 176642138 176642150 11 80 858.989 - - 1 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 9 7 9 9 23 22 23 22 9 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529513244 2 178804716 A AT 540 PASS PDE11A CCDS42786.1 r.? - - Ins intronic I 178804716 178804725 1 24 477.048 - - 8 1 1 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 18 0 0 ./. 7 2 9 6 18 28 18 28 9 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529517646 2 194564128 CA C 420 PASS - - - - - Del - D 194564128 194564137 1 20 372.91 - - 8 1 1 - - ./. 0 0 0 0 4 13 4 13 0 0 ./. 3 4 4 6 17 17 17 17 4 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529517847 2 195250912 AAGC A 389 PASS - - - - - Del - D 195250912 195250919 3 20 375.318 - - 2 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 4 5 7 19 18 19 18 5 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529520429 2 203541629 TA T 420 PASS FAM117B CCDS33362.1 r.? - - Del intronic D 203541629 203541634 1 18 372.308 - - 4 1 1 FAM117B|CCDS33362.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM117B|CCDS33362.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 5 4 6 16 14 16 14 4 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529522423 2 210078382 ATCTATCCTTTCCC A 377 PASS - - - - - Del - D 210078382 210078396 13 56 699.772 - - 1 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 6 7 9 8 22 20 22 20 9 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529524608 2 216972932 ATGTATT A 377 PASS XRCC5 CCDS2402.1 r.? - - Del intronic D 216972932 216972940 6 56 698.568 - - 1 1 1 XRCC5|CCDS2402.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 XRCC5|CCDS2402.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 6 7 7 8 19 26 19 26 7 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529527843 2 227960897 TA T 809 PASS COL4A4 CCDS42828.1 r.? - - Del intronic D 227960897 227960899 1 60 754.249 - - 1 1 1 COL4A4|CCDS42828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL4A4|CCDS42828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 9 5 11 8 23 20 23 20 11 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529528401 2 229447359 T TTA 540 PASS - - - - - Ins - I 229447359 229447373 2 24 474.038 - - 6 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 7 2 9 4 28 19 28 19 9 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529529308 2 232570892 CA C 300 PASS PTMA CCDS46541.1 r.? - - Del upstream D 232570892 232570894 1 12 269.375 - - 1 1 1 PTMA|CCDS46541.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PTMA|CCDS46541.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 2 4 4 10 16 10 16 4 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529530541 2 236362394 GC G 960 PASS - - - - - Del - D 236362394 236362396 1 65 860.193 - - 1 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 12 4 14 5 32 15 32 15 14 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529531076 2 238440818 AC A 600 PASS MLPH CCDS2518.1 r.? - - Del intronic D 238440818 238440820 1 35 535.739 - - 1 1 1 MLPH|CCDS2518.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MLPH|CCDS2518.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 6 4 7 6 19 14 19 14 7 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529533602 20 3752067 TA T 418 PASS C20orf27 CCDS33436.1 r.? - - Del upstream D 3752067 3752070 1 25 433.909 - - 2 1 1 C20orf27|CCDS33436.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 C20orf27|CCDS33436.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 4 9 6 17 15 17 15 9 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529536349 20 12704263 CA C 540 PASS - - - - - Del - D 12704263 12704265 1 30 490.179 - - 1 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 5 4 5 20 13 20 13 4 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529536835 20 14403162 A AT 360 PASS MACROD2 CCDS13120.2 r.? - - Ins intronic I 14403162 14403172 1 15 322.572 - - 9 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 15 14 0 0 ./. 2 4 2 4 29 36 30 37 2 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529537535 20 16952777 TA T 569 PASS - - - - - Del - D 16952777 16952786 1 32 539.827 - - 8 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 7 4 8 14 25 14 25 4 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529539370 20 24377135 ATTATAC A 485 PASS - - - - - Del - D 24377135 24377144 6 99 980.358 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 8 10 9 12 22 21 23 21 10 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529542680 20 33777550 CT C 600 PASS - - - - - Del - D 33777550 33777553 1 35 541.633 - - 2 1 1 - - ./. 0 0 0 0 17 4 17 4 0 0 ./. 6 4 9 5 24 15 24 15 9 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529542707 20 33857960 TG T 480 PASS MMP24 CCDS46593.1 r.? - - Del intronic D 33857960 33857964 1 25 433.307 - - 3 1 1 MMP24|CCDS46593.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MMP24|CCDS46593.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 4 6 4 13 12 13 12 6 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529549615 20 58773885 CAATTTT C 435 PASS - - - - - Del - D 58773885 58773893 6 70 812.751 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 9 6 12 9 20 17 20 17 12 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529549700 20 59170650 ATAAA AAAT 360 PASS ENSG00000237240 ENST00000456299 r.? - - Complex intronic DI 59170651 59170654 4 16 0 - - 0 1 1 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ENSG00000237240|ENST00000456299|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 3 0 0 24 21 24 21 3 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529554738 21 15571595 GAAA G 896 PASS LIPI CCDS13564.1 r.? - - Del intronic D 15571595 15571601 3 88 925.301 - - 5 1 1 LIPI|CCDS13564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIPI|CCDS13564.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 6 16 6 0 0 ./. 10 7 11 9 37 21 37 21 11 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529555067 21 16720025 G GA 840 PASS - - - - - Ins - I 16720025 16720032 1 64 753.477 - - 6 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 7 7 11 11 29 21 29 21 11 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529561255 21 33651565 TCCTAAGGATTATTCA T 324 PASS C21orf45 CCDS13611.1 r.? - - Del upstream D 33651565 33651583 15 49 653.579 - - 1 1 1 C21orf45|CCDS13611.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C21orf45|CCDS13611.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 5 17 5 17 0 0 ./. 6 6 7 5 18 16 18 17 7 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529562038 21 35792866 T TA 300 PASS ENSG00000243627 ENST00000480922 r.? - - Ins upstream I 35792866 35792875 1 12 268.712 - - 8 1 - ENSG00000243627|ENST00000480922|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ENSG00000243627|ENST00000450895|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 3 2 6 7 16 22 16 22 6 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529563069 21 39003085 GAGAAC G 675 PASS KCNJ6 CCDS42927.1 r.? - - Del intronic D 39003085 39003092 5 108 1028.81 - - 1 1 1 KCNJ6|CCDS42927.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNJ6|CCDS42927.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 16 5 16 0 0 ./. 8 11 10 15 21 29 21 29 10 15 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529569430 22 26539734 GCTACT G 658 PASS - - - - - Del - D 26539734 26539741 5 45 644.705 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 8 6 9 15 19 15 19 6 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529571938 22 35091830 AG A 420 PASS - - - - - Del - D 35091830 35091832 1 20 383.102 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 4 4 5 14 18 14 18 4 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529575053 22 45866400 GCCCC G 298 PASS - - - - - Del - D 45866400 45866407 4 16 328.373 - - 6 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 3 3 3 8 13 8 13 3 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529579470 3 8631987 C CGTG 780 PASS - - - - - Ins - I 8631987 8631988 3 56 677.595 - - 0 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 7 7 8 28 25 28 26 7 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529579766 3 9572775 TTA T 480 PASS LHFPL4 CCDS33691.1 r.? - - Del intronic D 9572775 9572779 2 24 431.802 - - 1 1 1 LHFPL4|CCDS33691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LHFPL4|CCDS33691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 3 7 3 18 16 18 16 7 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529581592 3 15867573 CA C 417 PASS ANKRD28 CCDS46769.1 r.? - - Del intronic D 15867573 15867575 1 20 332.672 - - 1 1 1 ANKRD28|CCDS46769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKRD28|CCDS46769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 3 5 4 24 17 24 17 5 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529582649 3 20181651 GTT G 720 PASS KAT2B CCDS2634.1 r.? - - Del intronic D 20181651 20181654 2 48 642.886 - - 2 1 1 KAT2B|CCDS2634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KAT2B|CCDS2634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 5 7 5 9 17 30 17 30 5 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529584146 3 25089521 GC G 360 PASS - - - - - Del - D 25089521 25089524 1 15 322.647 - - 2 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 2 6 3 18 15 18 15 6 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529586307 3 32766720 G GT 660 PASS CNOT10 CCDS2655.1 r.? - - Ins intronic I 32766720 32766728 1 42 585.901 - - 7 1 1 CNOT10|CCDS2655.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNOT10|CCDS2655.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 14 20 15 0 0 ./. 5 6 9 7 23 30 23 30 9 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529587456 3 36655463 TG T 840 PASS - - - - - Del - D 36655463 36655466 1 64 755.051 - - 2 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 7 7 10 8 26 21 26 21 10 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529590575 3 48792692 GTGC G 598 PASS PRKAR2A CCDS2778.1 r.? - - Del intronic D 48792692 48792698 3 36 586.503 - - 1 1 1 PRKAR2A|CCDS2778.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKAR2A|CCDS2778.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 8 4 8 23 19 23 19 4 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529592145 3 55166450 CTGAAAA C 435 PASS - - - - - Del - D 55166450 55166459 6 70 809.026 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 9 6 12 6 28 19 28 19 12 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529593150 3 58140227 GC G 689 PASS FLNB CCDS2885.1 r.? - - Del intronic D 58140227 58140229 1 49 632.651 - - 1 1 1 FLNB|CCDS2885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FLNB|CCDS2885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 17 3 17 0 0 ./. 6 6 7 7 17 27 17 27 7 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529593357 3 58604803 CTG C 420 PASS FAM107A ENST00000474531 r.? - - Del intronic D 58604803 58604806 2 18 376.622 - - 1 1 1 FAM107A|ENST00000474531|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM107A|ENST00000474531|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 5 2 7 11 16 11 16 2 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529597682 3 74057994 GTTCCAGCTCCTT G 290 PASS - - - - - Del - D 74057994 74058009 12 35 539.15 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 6 4 7 23 15 23 15 4 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529599393 3 76612998 TAAACAGTACTA T 319 PASS ROBO2 ENST00000487694 r.? - - Del intronic D 76612998 76613011 11 40 592.523 - - 1 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 7 4 8 5 19 24 19 24 8 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529600227 3 79533487 G GA 480 PASS ROBO1 ENST00000464233 r.? - - Ins intronic I 79533487 79533493 1 25 381.229 - - 5 1 1 ROBO1|ENST00000464233|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROBO1|ENST00000464233|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 4 8 7 22 24 22 24 8 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529602942 3 88928360 TTTTA T 956 PASS - - - - - Del - D 88928360 88928369 4 99 969.748 - - 2 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 10 8 13 13 29 29 29 29 13 13 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529603313 3 94086526 A AT 300 PASS - - - - - Ins - I 94086526 94086536 1 6 262.651 - - 9 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 0 5 1 4 26 31 26 31 1 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529605242 3 100839670 GGGTTTGCAGATACA G 336 PASS - - - - - Del - D 100839670 100839685 14 49 644.09 - - 1 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 6 6 6 6 13 18 13 18 6 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529605304 3 101036127 TA T 600 PASS IMPG2 CCDS2940.1 r.? - - Del intronic D 101036127 101036129 1 32 537.946 - - 1 1 1 IMPG2|CCDS2940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IMPG2|CCDS2940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 7 3 9 5 31 18 31 18 9 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529607096 3 107138580 AG A 900 PASS - - - - - Del - D 107138580 107138584 1 70 809.628 - - 3 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 9 6 16 6 38 22 38 22 16 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529609494 3 115242334 A AT 300 PASS - - - - - Ins - I 115242334 115242344 1 12 264.458 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 3 2 3 22 21 22 21 2 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529609562 3 115545716 G GA 689 PASS LSAMP CCDS2982.1 r.? - - Ins intronic I 115545716 115545725 1 49 639.876 - - 8 1 1 LSAMP|CCDS2982.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LSAMP|CCDS2982.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 14 11 0 0 ./. 6 6 8 10 22 28 23 28 8 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529610484 3 118619662 G GA 300 PASS IGSF11 CCDS46891.1 r.3306_3307insu c.? p.? Ins 3'UTR variant I 118619662 118619672 1 10 263.253 - - 9 1 1 IGSF11|CCDS46891.1|r.3306_3307insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 IGSF11|CCDS46891.1|r.3306_3307insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 1 4 1 40 27 40 28 4 1 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529611787 3 123256260 TA T 360 PASS PTPLB CCDS46895.1 r.? - - Del intronic D 123256260 123256267 1 15 322.647 - - 6 1 1 PTPLB|CCDS46895.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPLB|CCDS46895.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 2 4 4 7 13 19 13 19 4 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529611998 3 124231093 GCTCATGACTGTCGCTGGCGCAATA G 406 PASS KALRN CCDS3027.1 r.? - - Del intronic D 124231093 124231119 24 64 747.826 - - 1 1 1 KALRN|CCDS3027.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KALRN|CCDS3027.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 7 7 6 6 28 13 29 14 7 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529613146 3 128267848 GGAC G 327 PASS - - - - - Del - D 128267848 128267852 3 20 376.622 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 4 4 5 17 17 17 17 4 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529616031 3 138839445 CTGA C 656 PASS MRPS22 CCDS3107.1 r.? - - Del intronic D 138839445 138839449 3 56 682.412 - - 1 1 1 MRPS22|CCDS3107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MRPS22|CCDS3107.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 6 10 7 20 26 20 26 10 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529623166 3 163967586 ATGGG A 598 PASS - - - - - Del - D 163967586 163967593 4 40 593.125 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 7 4 7 4 23 16 23 16 7 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529623762 3 166063591 TA T 720 PASS - - - - - Del - D 166063591 166063593 1 48 647.1 - - 1 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 5 7 6 7 24 25 24 25 6 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529628662 3 184419688 GACA G 689 PASS - - - - - Del - D 184419688 184419696 3 48 647.703 - - 2 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 7 7 10 22 21 22 21 7 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529630770 3 191012010 C CA 420 PASS UTS2D CCDS3300.1 r.? - - Ins intronic I 191012010 191012012 1 20 373.01 - - 1 1 1 UTS2D|CCDS3300.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 UTS2D|CCDS3300.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 9 20 9 0 0 ./. 4 3 10 8 25 19 25 19 10 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529631251 3 192609722 GC G 480 PASS C3orf59 CCDS3302.2 r.? - - Del intronic D 192609722 192609725 1 24 431.802 - - 2 1 1 C3orf59|CCDS3302.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C3orf59|CCDS3302.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 5 3 7 5 24 16 24 16 7 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529632685 3 196872471 CT C 600 PASS DLG1 CCDS3327.1 r.? - - Del intronic D 196872471 196872476 1 35 536.742 - - 4 1 1 DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 6 5 7 22 18 22 18 5 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529633155 4 468282 A AT 960 PASS ABCA11P ENST00000338977 r.? - - Ins intronic I 468282 468287 1 81 852.741 - - 4 1 1 ABCA11P|ENST00000338977|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ABCA11P|ENST00000338977|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 19 0 0 ./. 8 8 12 11 21 21 21 21 12 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529633331 4 1164628 CA C 420 PASS SPON2 CCDS3347.1 r.? - - Del intronic D 1164628 1164630 1 14 376.95 - - 1 1 1 SPON2|CCDS3347.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPON2|CCDS3347.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 6 1 7 2 17 13 17 13 7 2 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529641110 4 26784975 TA T 720 PASS - - - - - Del - D 26784975 26784978 1 45 644.824 - - 2 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 8 8 10 24 29 24 29 8 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529641719 4 28444429 GAAGGACTTA G 261 PASS - - - - - Del - D 28444429 28444440 9 28 485.424 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 3 6 4 17 16 17 16 6 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529642214 4 29776798 TA T 780 PASS - - - - - Del - D 29776798 29776804 1 56 700.566 - - 5 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 7 6 10 7 21 14 21 14 10 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529644087 4 36343308 TA T 660 PASS DTHD1 CCDS47039.1 r.? - - Del intronic D 36343308 36343311 1 42 593.296 - - 2 1 1 DTHD1|CCDS47039.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DTHD1|CCDS47039.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 6 5 10 24 24 24 24 5 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529649942 4 56480757 AT A 540 PASS NMU CCDS3501.1 r.? - - Del intronic D 56480757 56480764 1 28 485.424 - - 6 1 1 NMU|CCDS3501.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NMU|CCDS3501.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 6 4 8 18 14 18 14 4 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529651874 4 62066498 AC A 600 PASS LPHN3 ENST00000512091 r.? - - Del upstream D 62066498 62066501 1 32 532.135 - - 2 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 LPHN3|ENST00000512091|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 5 8 5 0 0 ./. 7 3 9 5 18 21 18 21 9 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529657299 4 78762348 AT A 1138 PASS - - - - - Del - D 78762348 78762350 1 117 1078.12 - - 1 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 12 8 17 8 38 25 38 25 17 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529657520 4 79447781 CT C 660 PASS FRAS1 ENST00000264895 r.11336delU c.10896delT p.L3633fs*12 Del frameshift D 79447781 79447785 1 40 592.694 - - 3 1 1 FRAS1|ENST00000264895|r.11336delU|c.10896delT|p.L3633fs*12|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 FRAS1|ENST00000264895|r.11336delU|c.10896delT|p.L3633fs*12|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 7 6 10 12 22 12 22 6 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529658440 4 83217765 GAAAATTAGTCAGCTAT G 435 PASS - - - - - Del - D 83217765 83217783 16 52 809.04 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 12 3 13 23 27 23 27 3 13 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529660267 4 89280961 ACTT A 298 PASS - - - - - Del - D 89280961 89280967 3 15 323.616 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 2 8 3 22 14 22 14 8 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529660310 4 89596955 ATG A 300 PASS HERC3 CCDS34028.1 r.? - - Del intronic D 89596955 89596971 2 12 269.68 - - 7 1 - HERC3|CCDS34028.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HERC3|CCDS34028.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 2 3 28 21 28 21 2 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529661869 4 95560964 GA G 540 PASS PDLIM5 CCDS3641.1 r.? - - Del intronic D 95560964 95560966 1 30 484.822 - - 1 1 1 PDLIM5|CCDS3641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDLIM5|CCDS3641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 4 5 5 5 20 17 20 17 5 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529663118 4 99613755 AC A 960 PASS - - - - - Del - D 99613755 99613757 1 80 850.935 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 7 9 10 10 27 21 27 21 10 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529663413 4 100378543 CCATGT C 687 PASS - - - - - Del - D 100378543 100378551 5 56 694.545 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 6 7 9 8 19 20 19 20 9 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529664281 4 104231648 C CT 477 PASS - - - - - Ins - I 104231648 104231657 1 21 426.672 - - 8 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 6 3 9 15 27 15 27 3 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529664726 4 106052034 T TTGTA 358 PASS - - - - - Ins - I 106052034 106052039 4 20 357.684 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 16 0 0 ./. 4 3 5 4 19 14 19 14 5 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529666478 4 112420948 T TA 660 PASS - - - - - Ins - I 112420948 112420957 1 40 585.469 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 7 6 8 24 30 24 31 6 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529667387 4 116030406 TGGCCAAGCTAACTTTCAACTTCTGTGTAGTTATAGTTGACGATGCATTCCATTAAGGACTTTTTAAAAGGAGGCTAAATATTTGAAATAAATCACAACATAAGTTCAATTGATGGTG T 377 PASS NDST4 CCDS3706.1 r.? - - Del intronic D 116030406 116030525 117 54 700.566 - - 1 1 1 NDST4|CCDS3706.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NDST4|CCDS3706.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 8 5 0 0 14 9 22 14 8 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529671357 4 128961199 ATGGGAGT A 493 PASS C4orf29 ENST00000388795 r.? - - Del downstream D 128961199 128961207 7 88 916.31 - - 1 1 1 C4orf29|ENST00000388795|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 C4orf29|ENST00000388795|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 9 10 9 10 0 0 ./. 10 7 10 8 31 14 31 14 10 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529676754 4 146702176 GT G 300 PASS ZNF827 CCDS34072.1 r.? - - Del intronic D 146702176 146702178 1 6 269.078 - - 1 1 1 ZNF827|CCDS34072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF827|CCDS34072.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 0 5 2 5 12 13 12 13 2 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529677732 4 150654953 A AT 780 PASS - - - - - Ins - I 150654953 150654959 1 50 693.341 - - 5 1 1 - - ./. 0 0 0 0 12 12 13 12 0 0 ./. 4 9 7 12 23 35 23 35 7 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529681598 4 163059807 AT A 540 PASS FSTL5 CCDS3802.1 r.? - - Del intronic D 163059807 163059809 1 30 483.618 - - 1 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 5 6 10 26 24 26 24 6 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529684641 4 171851859 AT A 600 PASS - - - - - Del - D 171851859 171851863 1 35 539.36 - - 3 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 4 9 5 27 21 27 21 9 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529685428 4 174550025 TG T 468 PASS - - - - - Del - D 174550025 174550027 1 48 641.814 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 7 5 7 6 18 15 18 15 7 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529688359 4 182623102 TC T 509 PASS - - - - - Del - D 182623102 182623105 1 28 484.822 - - 2 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 6 3 8 5 22 18 22 18 8 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529690484 4 188454188 T TA 300 PASS - - - - - Ins - I 188454188 188454198 1 10 261.853 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 1 4 1 21 28 21 28 4 1 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529691035 4 189820298 AT A 720 PASS - - - - - Del - D 189820298 189820306 1 45 646.028 - - 7 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 8 6 8 17 30 17 30 6 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529698181 5 18404387 GT G 509 PASS - - - - - Del - D 18404387 18404390 1 30 480.259 - - 2 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 5 5 7 15 18 15 18 5 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529698328 5 18738989 TTGAAGGTGTAGCA T 464 PASS - - - - - Del - D 18738989 18739006 13 81 863.293 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 8 8 8 8 27 27 27 27 8 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529700442 5 25044220 AT A 809 PASS - - - - - Del - D 25044220 25044222 1 60 752.823 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 9 5 10 6 27 22 27 22 10 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529704497 5 36859632 G GT 1020 PASS - - - - - Ins - I 36859632 36859639 1 78 907.691 - - 6 1 1 - - ./. 0 0 0 0 17 8 17 9 0 0 ./. 12 5 15 8 35 20 36 20 15 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529704944 5 38330031 AAAGAGC A 493 PASS EGFLAM CCDS3924.1 r.? - - Del intronic D 38330031 38330040 6 88 916.12 - - 1 1 1 EGFLAM|CCDS3924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EGFLAM|CCDS3924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 10 7 11 8 30 19 30 19 11 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529705456 5 40029766 A AT 840 PASS - - - - - Ins - I 40029766 40029774 1 64 748.006 - - 7 1 1 - - ./. 0 0 0 0 19 21 19 22 0 0 ./. 7 7 11 12 31 43 33 44 11 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529706766 5 45592215 GTCTATT G 290 PASS HCN1 CCDS3952.1 r.? - - Del intronic D 45592215 45592225 6 36 539.709 - - 1 1 1 HCN1|CCDS3952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HCN1|CCDS3952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 20 15 20 0 0 ./. 5 5 6 5 19 17 19 17 6 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529707485 5 51691469 TC T 960 PASS - - - - - Del - D 51691469 51691473 1 80 863.293 - - 3 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 9 7 10 10 15 32 15 32 10 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529709494 5 57539650 TACTA T 600 PASS - - - - - Del - D 57539650 57539659 4 27 540.311 - - 2 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 8 2 11 3 23 13 23 13 11 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529715739 5 80649114 AAAAAATAGGG AAAAATAGGG 507 PASS ACOT12 CCDS4055.1 r.? - - Complex intronic DI 80649115 80649124 10 35 0 - - 0 1 1 ACOT12|CCDS4055.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ACOT12|CCDS4055.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 6 4 0 0 19 20 19 20 6 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529716158 5 82441726 TATGATA T 348 PASS XRCC4 CCDS4058.1 r.? - - Del intronic D 82441726 82441733 6 48 616.464 - - 1 1 1 XRCC4|CCDS4058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XRCC4|CCDS4058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 7 8 8 22 20 22 20 8 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529716788 5 84526080 TGTC T 1049 PASS - - - - - Del - D 84526080 84526086 3 96 972.559 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 11 7 14 9 41 26 41 26 14 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529717153 5 85529878 TA T 720 PASS - - - - - Del - D 85529878 85529882 1 45 648.373 - - 3 1 1 - - ./. 0 0 0 0 4 18 4 18 0 0 ./. 4 8 6 10 16 19 16 19 6 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529717354 5 86193939 TG T 1200 PASS - - - - - Del - D 86193939 86193941 1 117 1080.62 - - 1 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 8 12 11 16 24 34 24 34 11 16 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529717788 5 87954953 ATCTT A 809 PASS - - - - - Del - D 87954953 87954959 4 48 756.435 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 11 5 12 20 36 20 36 5 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529717801 5 88016310 GCAGCCTTTTACAATGAGAAACA G 377 PASS MEF2C CCDS47245.1 r.3929_3950del22 c.? p.? Del 3'UTR variant D 88016310 88016335 22 56 699.996 - - 1 1 1 MEF2C|CCDS47245.1|r.3929_3950del22|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 MEF2C|CCDS47245.1|r.3929_3950del22|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 7 3 6 24 15 27 16 6 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529718048 5 89248311 AC A 660 PASS - - - - - Del - D 89248311 89248313 1 42 593.138 - - 1 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 5 6 9 6 17 23 17 23 9 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529718960 5 93618917 TGAACTTC T 377 PASS C5orf36 ENST00000513200 r.? - - Del intronic D 93618917 93618925 7 44 697.587 - - 1 1 1 C5orf36|ENST00000513200|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C5orf36|ENST00000513200|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 10 4 11 16 26 16 26 4 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529723570 5 111109379 AAGGTTTGAGATC A 290 PASS C5orf13 CCDS47255.1 r.? - - Del intronic D 111109379 111109393 12 36 540.311 - - 1 1 1 C5orf13|CCDS47255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C5orf13|CCDS47255.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 5 5 5 5 19 28 19 28 5 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529725516 5 117789183 T TA 780 PASS ENSG00000232769 ENST00000428465 r.? - - Ins intronic I 117789183 117789193 1 50 690.965 - - 9 1 1 ENSG00000232769|ENST00000428465|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000232769|ENST00000428465|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 14 26 14 0 0 ./. 9 4 12 6 37 20 37 20 12 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529727977 5 126795968 CATG C 809 PASS MEGF10 CCDS4142.1 r.6649_6651delAUG c.? p.? Del 3'UTR variant D 126795968 126795974 3 55 755.833 - - 1 1 1 MEGF10|CCDS4142.1|r.6649_6651delAUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 MEGF10|CCDS4142.1|r.6649_6651delAUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 18 9 18 9 0 0 ./. 4 10 6 10 27 25 27 25 6 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529735892 5 157304974 A AC 657 PASS - - - - - Ins - I 157304974 157304977 1 40 585.311 - - 2 1 1 - - ./. 0 0 0 0 11 10 12 10 0 0 ./. 4 7 5 8 17 23 18 23 5 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529737958 5 164971964 ATC A 1320 PASS - - - - - Del - D 164971964 164971970 2 140 1180.25 - - 2 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 9 13 11 14 27 26 27 26 11 14 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529741307 5 176768995 ACCT A 838 PASS LMAN2 CCDS4417.1 r.? - - Del intronic D 176768995 176768999 3 70 810.466 - - 1 1 1 LMAN2|CCDS4417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMAN2|CCDS4417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 6 9 11 11 25 31 25 31 11 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529744665 6 6255388 TATGGACATTGCCG T 406 PASS F13A1 CCDS4496.1 r.? - - Del intronic D 6255388 6255402 13 48 755.346 - - 1 1 1 F13A1|CCDS4496.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 F13A1|CCDS4496.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 11 4 12 16 26 16 26 4 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529745686 6 8853571 TC T 569 PASS - - - - - Del - D 8853571 8853574 1 35 540.823 - - 2 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 6 5 7 12 19 12 19 5 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529748034 6 16525157 CCTGTAATCCCAG C 319 PASS ATXN1 CCDS34342.1 r.? - - Del intronic D 16525157 16525172 12 40 594.905 - - 1 1 1 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ATXN1|CCDS34342.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 7 6 7 25 15 25 15 6 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529753077 6 30782222 GT G 660 PASS - - - - - Del - D 30782222 30782224 1 40 593.701 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 7 6 9 16 24 16 24 6 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529757904 6 44891472 ACTGG A 929 PASS SUPT3H CCDS34466.1 r.? - - Del intronic D 44891472 44891480 4 80 865.317 - - 1 1 1 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 9 7 11 11 25 21 25 21 11 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529758248 6 46309386 A AT 460 PASS RCAN2 ENST00000371374 r.? - - Ins intronic I 46309386 46309388 1 30 478.312 - - 1 1 1 RCAN2|ENST00000371374|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RCAN2|ENST00000371374|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 4 6 6 27 17 27 17 6 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529759134 6 49383744 ATGAGAAAAATCAT A 377 PASS - - - - - Del - D 49383744 49383758 13 54 700.06 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 8 5 8 5 27 27 27 27 8 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529760809 6 55072787 TA T 569 PASS HCRTR2 CCDS4956.1 r.? - - Del intronic D 55072787 55072789 1 32 540.221 - - 1 1 1 HCRTR2|CCDS4956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HCRTR2|CCDS4956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 7 6 8 26 25 26 25 6 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529765776 6 71734365 CT C 420 PASS - - - - - Del - D 71734365 71734371 1 20 378.576 - - 5 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 3 4 3 6 24 24 24 24 3 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529766219 6 73207355 C CT 600 PASS - - - - - Ins - I 73207355 73207361 1 35 533.598 - - 5 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 6 7 9 27 31 27 31 7 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529767721 6 79550649 TAATAA T 834 PASS - - - - - Del - D 79550649 79550660 5 88 919.399 - - 2 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 7 10 11 11 17 21 17 21 11 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529768762 6 85390348 GTAT G 687 PASS - - - - - Del - D 85390348 85390355 3 54 701.866 - - 2 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 8 5 8 5 13 7 13 7 8 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529773910 6 108453680 TTTTG T 629 PASS OSTM1 ENST00000440575 r.? - - Del intronic D 108453680 108453696 4 42 594.905 - - 3 1 1 OSTM1|ENST00000440575|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 OSTM1|ENST00000440575|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 6 7 6 16 10 16 10 7 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529775217 6 114495360 GC G 600 PASS - - - - - Del - D 114495360 114495362 1 36 540.221 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 5 7 6 10 7 10 7 7 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529775709 6 116824455 TG T 282 PASS BET3L CCDS47468.1 r.? - - Del intronic D 116824455 116824458 1 48 647.181 - - 2 1 1 BET3L|CCDS47468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BET3L|CCDS47468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 21 18 21 0 0 ./. 5 7 12 12 18 13 18 13 12 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529776502 6 120378368 GACCTAATATTTAAT G 464 PASS - - - - - Del - D 120378368 120378383 14 80 865.317 - - 1 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 9 7 10 7 15 8 15 8 10 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529779833 6 136873601 TTGATTCTTAAAATGTCTTCC T 261 PASS MAP3K5 CCDS5179.1 r.? - - Del downstream D 136873601 136873623 20 30 483.128 - - 1 1 1 MAP3K5|CCDS5179.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 MAP7|CCDS5178.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 4 5 5 9 5 9 5 5 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529782848 6 152258341 ATCTAAAATAAATTCT A 319 PASS ESR1 CCDS5234.1 r.? - - Del intronic D 152258341 152258359 15 42 587.078 - - 1 1 1 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 5 6 6 6 10 12 10 12 6 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529785121 6 161701607 C CA 360 PASS - - - - - Ins - I 161701607 161701614 1 15 320.881 - - 6 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 4 5 8 12 21 12 21 5 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529788342 7 3575623 GT G 418 PASS SDK1 CCDS34590.1 r.? - - Del intronic D 3575623 3575629 1 24 427.583 - - 5 1 1 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 3 11 9 23 22 23 22 11 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529791383 7 12623688 GGATCTGTGTTTGTGTTATTAAC G 348 PASS SCIN CCDS47545.1 r.? - - Del intronic D 12623688 12623711 22 48 648.6 - - 1 1 1 SCIN|CCDS47545.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCIN|CCDS47545.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 8 18 8 0 0 ./. 5 7 5 6 18 19 18 21 5 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529792138 7 15038840 C CA 598 PASS - - - - - Ins - I 15038840 15038850 1 40 568.661 - - 9 1 1 - - ./. 0 0 0 0 11 27 11 27 0 0 ./. 4 7 9 8 21 35 21 35 9 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529792873 7 17300903 GC G 840 PASS - - - - - Del - D 17300903 17300906 1 60 752.485 - - 2 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 9 5 12 8 27 21 27 21 12 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529796321 7 29003244 GT G 1260 PASS - - - - - Del - D 29003244 29003246 1 130 1135.05 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 9 12 12 15 29 28 29 28 12 15 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529797905 7 34424746 CAAAG C 687 PASS - - - - - Del - D 34424746 34424755 4 56 702.65 - - 2 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 6 7 8 8 22 25 22 25 8 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529801585 7 46987480 GATATTTCCA G 406 PASS - - - - - Del - D 46987480 46987492 9 63 756.699 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 6 8 7 8 27 25 27 25 7 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529803537 7 53650696 GT G 840 PASS - - - - - Del - D 53650696 53650705 1 63 756.699 - - 8 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 6 8 11 10 28 25 28 25 11 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529809726 7 72912530 TCCA T 538 PASS BAZ1B CCDS5549.1 r.? - - Del intronic D 72912530 72912536 3 36 539.296 - - 1 1 1 BAZ1B|CCDS5549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAZ1B|CCDS5549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 5 5 7 7 22 25 22 25 7 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529810859 7 77023250 CA C 364 PASS PION CCDS34672.2 r.? - - Del intronic D 77023250 77023254 1 21 411.93 - - 3 1 1 PION|CCDS34672.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PION|CCDS34672.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 6 7 9 17 21 17 21 7 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529815411 7 92673690 GA G 600 PASS - - - - - Del - D 92673690 92673694 1 32 540.5 - - 3 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 7 3 15 22 29 22 29 3 15 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529815452 7 92747911 CTGAG C 718 PASS SAMD9 CCDS34680.1 r.? - - Del upstream D 92747911 92747920 4 54 700.241 - - 2 1 1 SAMD9|CCDS34680.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SAMD9|CCDS34680.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 10 15 10 0 0 ./. 8 5 11 6 21 27 21 27 11 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529822104 7 116580717 AT A 300 PASS - - - - - Del - D 116580717 116580727 1 10 267.24 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 1 4 3 15 13 15 13 4 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529823551 7 122559791 GAAACCTCATTAACTGAA G 348 PASS - - - - - Del - D 122559791 122559810 17 49 648.6 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 6 6 7 8 24 18 24 18 7 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529825893 7 129935409 AC A 480 PASS CPA4 CCDS5818.1 r.? - - Del intronic D 129935409 129935411 1 24 432.4 - - 1 1 1 CPA4|CCDS5818.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPA4|CCDS5818.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 5 4 9 12 22 12 22 4 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529828420 7 138087283 CA C 360 PASS - - - - - Del - D 138087283 138087285 1 12 324.3 - - 1 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 1 5 1 9 5 23 5 23 1 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529830060 7 144225430 GC G 840 PASS TPK1 CCDS5888.1 r.? - - Del intronic D 144225430 144225432 1 55 756.699 - - 1 1 1 TPK1|CCDS5888.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TPK1|CCDS5888.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 10 4 13 4 22 16 22 16 13 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529830423 7 145348088 G GT 420 PASS - - - - - Ins - I 145348088 145348098 1 18 374.135 - - 9 1 1 - - ./. 0 0 0 0 20 16 20 17 0 0 ./. 2 5 3 8 24 27 24 27 3 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529832534 7 151928695 GTCTCTACCAAAAATACAAA GGT 290 PASS BAGE3 CCDS5931.1 r.? - - Complex intronic DI 151928696 151928714 19 32 0 - - 0 1 1 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 7 0 0 14 16 14 18 3 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529832943 7 152396834 T TG 720 PASS - - - - - Ins - I 152396834 152396839 1 48 636.558 - - 4 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 7 5 9 7 21 24 21 24 9 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529837773 8 8385899 GATTACAGGC G 327 PASS - - - - - Del - D 8385899 8385911 9 42 595.31 - - 1 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 5 6 2 10 16 27 20 27 6 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529838483 8 10171006 C CA 300 PASS MSRA CCDS47799.1 r.? - - Ins intronic I 10171006 10171016 1 10 259.758 - - 9 1 - MSRA|CCDS47799.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MSRA|CCDS47799.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 1 8 6 37 23 37 23 8 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529841794 8 20184705 AGACAGAAAGTGGG A 414 PASS - - - - - Del - D 20184705 20184719 13 63 757.667 - - 1 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 8 6 8 6 20 16 21 16 9 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529841873 8 20694591 GTGTATCCATAGCTACACAGAT G 377 PASS - - - - - Del - D 20694591 20694615 21 50 703.548 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 9 4 8 29 18 29 19 4 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529842224 8 22210674 T TA 840 PASS PIWIL2 CCDS6029.1 r.2737_2738insa c.2606_2607insA p.T870fs*16 Ins frameshift I 22210674 22210677 1 63 749.238 - - 2 1 1 PIWIL2|CCDS6029.1|r.2737_2738insa|c.2606_2607insA|p.T870fs*16|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 PIWIL2|CCDS6029.1|r.2737_2738insa|c.2606_2607insA|p.T870fs*16|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 9 20 9 20 0 0 ./. 8 6 9 8 22 16 22 16 9 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529845338 8 31409537 TTCTAAAGTGTTTAAAGAGA T 522 PASS - - - - - Del - D 31409537 31409558 19 91 974.143 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 12 6 11 7 26 23 27 23 12 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529847782 8 40771821 CA C 720 PASS - - - - - Del - D 40771821 40771823 1 45 649.429 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 8 6 12 18 27 18 27 6 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529849655 8 52376075 T TA 900 PASS PXDNL CCDS47855.1 r.? - - Ins intronic I 52376075 52376083 1 72 802.153 - - 7 1 1 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 7 8 13 12 29 31 29 31 13 13 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529853641 8 67180842 TTAATCTTAATCTGTTTCTCCAATTATATTTCCACTAATGCTACTGAACCC T 290 PASS - - - - - Del - D 67180842 67180894 50 36 533.966 - - 1 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 5 5 1 1 10 14 14 18 5 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529855438 8 73568623 AAGGC A 507 PASS KCNB2 CCDS6209.1 r.? - - Del intronic D 73568623 73568630 4 35 540.589 - - 1 1 1 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 11 20 11 0 0 ./. 4 6 4 8 13 13 13 13 4 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529856206 8 76014843 GC G 358 PASS - - - - - Del - D 76014843 76014847 1 14 358.364 - - 3 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 1 6 3 6 10 9 10 9 3 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529857265 8 79675588 T TA 660 PASS IL7 CCDS6224.1 r.? - - Ins intronic I 79675588 79675593 1 42 588.085 - - 4 1 1 IL7|CCDS6224.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL7|CCDS6224.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 8 20 8 0 0 ./. 6 5 10 9 33 24 34 24 10 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529861392 8 95867936 GAGAAGAGAACAT G 261 PASS INTS8 CCDS34925.1 r.? - - Del intronic D 95867936 95867950 12 30 487.072 - - 1 1 1 INTS8|CCDS34925.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INTS8|CCDS34925.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 4 5 6 19 26 19 26 5 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529862494 8 99814876 C CACA 329 PASS ENSG00000104375 CCDS47900.1 r.? - - Ins intronic I 99814876 99814881 3 15 313.877 - - 1 1 1 ENSG00000104375|CCDS47900.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000104375|CCDS47900.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 4 2 5 3 26 23 26 23 5 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529863763 8 104183347 AAG A 300 PASS BAALC CCDS6297.1 r.? - - Del intronic D 104183347 104183363 2 10 270.595 - - 7 1 1 BAALC|CCDS6297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAALC|CCDS6297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 4 2 21 23 21 23 4 2 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529869827 8 126143784 T TA 600 PASS NSMCE2 CCDS6356.1 r.? - - Ins intronic I 126143784 126143786 1 27 526.741 - - 1 1 1 NSMCE2|CCDS6356.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NSMCE2|CCDS6356.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 2 8 4 11 22 26 22 26 4 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529873413 8 139832478 ATACATAAAATGGTT A 261 PASS COL22A1 CCDS6376.1 r.? - - Del intronic D 139832478 139832494 14 30 487.072 - - 1 1 1 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 5 4 5 19 17 19 17 4 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529874662 8 144634360 CCATGGTG C 261 PASS ENSG00000228381 ENST00000442732 r.? - - Del upstream D 144634360 144634368 7 28 486.47 - - 1 1 1 ENSG00000228381|ENST00000442732|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000228381|ENST00000442732|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 11 7 11 0 0 ./. 6 3 7 6 18 20 18 20 7 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529877585 9 8959341 TTTACTTC T 377 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 8959341 8959349 7 54 704.522 - - 1 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 8 6 8 15 21 15 21 6 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529877676 9 9285571 CT C 660 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 9285571 9285576 1 40 596.134 - - 4 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 7 6 11 21 28 21 28 6 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529878004 9 10214772 CT C 747 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 10214772 10214778 1 63 758.716 - - 5 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 8 6 9 8 26 20 26 20 9 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529880410 9 18212998 ACTT A 660 PASS - - - - - Del - D 18212998 18213004 3 40 591.92 - - 1 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 7 6 13 28 30 28 30 6 13 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529881827 9 23716755 T TA 720 PASS ELAVL2 CCDS6515.1 r.? - - Ins intronic I 23716755 23716760 1 49 642.502 - - 4 1 1 ELAVL2|CCDS6515.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ELAVL2|CCDS6515.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 15 14 0 0 ./. 6 6 8 12 21 25 21 25 8 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529884433 9 32955631 AGGCT A 476 PASS - - - - - Del - D 32955631 32955639 4 35 538.93 - - 1 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 4 6 7 7 19 17 19 17 7 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529889748 9 70948571 GA G 250 PASS - - - - - Del - D 70948571 70948574 1 30 487.746 - - 2 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 5 7 8 18 16 18 16 7 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529892390 9 79709506 CA C 749 PASS - - - - - Del - D 79709506 79709508 1 54 704.522 - - 1 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 8 6 11 18 24 18 24 6 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529893518 9 83563704 CA C 840 PASS - - - - - Del - D 83563704 83563706 1 63 758.114 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 8 6 10 10 16 23 16 23 10 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529895238 9 89462546 T TA 360 PASS - - - - - Ins - I 89462546 89462555 1 15 320.95 - - 8 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 2 7 5 23 16 23 16 7 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529895450 9 90146551 TC T 1200 PASS DAPK1 CCDS43842.1 r.? - - Del intronic D 90146551 90146556 1 120 1065.82 - - 4 1 1 DAPK1|CCDS43842.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAPK1|CCDS43842.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 6 16 6 0 0 ./. 9 11 11 13 21 21 21 21 11 13 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529896576 9 94591144 CT C 600 PASS ROR2 CCDS6691.1 r.? - - Del intronic D 94591144 94591147 1 36 541.338 - - 2 1 1 ROR2|CCDS6691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROR2|CCDS6691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 5 6 7 24 23 24 23 6 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529898761 9 103283943 TCACTTCAGTACCTTTTATATA T 551 PASS TMEFF1 CCDS6750.1 r.? - - Del intronic D 103283943 103283966 21 110 1028.48 - - 1 1 1 TMEFF1|CCDS6750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEFF1|CCDS6750.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 10 9 9 9 18 19 19 19 10 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529898939 9 104117781 ACCGTACTAATCTCCTTAT A 348 PASS BAAT CCDS6752.1 r.? - - Del downstream D 104117781 104117801 18 40 650.328 - - 1 1 1 BAAT|CCDS6752.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 BAAT|CCDS6752.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 13 10 13 0 0 ./. 9 3 7 3 23 14 25 14 9 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529899259 9 105175495 CAGGGT C 343 PASS - - - - - Del - D 105175495 105175501 5 18 378.756 - - 1 1 1 - - ./. 0 0 0 0 3 9 3 9 0 0 ./. 2 5 2 5 14 13 14 13 2 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529900007 9 107384361 G GT 900 PASS OR13C9 CCDS35093.1 r.? - - Ins upstream I 107384361 107384366 1 66 803.88 - - 4 1 1 OR13C9|CCDS35093.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 OR13C9|CCDS35093.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 11 10 11 10 0 0 ./. 10 5 12 7 20 18 20 19 12 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529900616 9 109454919 GA G 1020 PASS - - - - - Del - D 109454919 109454922 1 90 920.094 - - 2 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 8 9 10 13 26 22 26 22 10 13 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529900912 9 110568305 T TG 480 PASS - - - - - Ins - I 110568305 110568308 1 24 428.736 - - 2 1 1 - - ./. 0 0 0 0 15 14 16 14 0 0 ./. 3 5 6 9 21 25 21 26 6 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529905317 9 124763699 TA T 540 PASS TTLL11 CCDS48012.1 r.? - - Del intronic D 124763699 124763702 1 18 485.338 - - 2 1 1 TTLL11|CCDS48012.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTLL11|CCDS48012.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 1 8 3 9 13 21 13 21 3 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529906673 9 130406283 GC G 780 PASS STXBP1 CCDS6874.1 r.? - - Del intronic D 130406283 130406286 1 54 699.104 - - 2 1 1 STXBP1|CCDS6874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STXBP1|CCDS6874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 8 9 10 20 20 20 20 9 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529907697 9 133346369 C CT 960 PASS ASS1 CCDS6933.1 r.? - - Ins intronic I 133346369 133346371 1 65 856.267 - - 1 1 1 ASS1|CCDS6933.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASS1|CCDS6933.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 12 4 12 11 19 22 19 23 12 11 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529907978 9 134258468 CTGGAATGTT C 261 PASS - - - - - Del - D 134258468 134258478 9 30 481.726 - - 1 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 5 4 6 6 19 16 19 16 6 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529908915 9 137174930 T TC 300 PASS - - - - - Ins - I 137174930 137174939 1 6 257.725 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 0 5 2 6 9 13 9 13 2 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529909000 9 137631576 CT C 329 PASS COL5A1 CCDS6982.1 r.? - - Del intronic D 137631576 137631579 1 16 318.542 - - 2 1 1 COL5A1|CCDS6982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL5A1|CCDS6982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 3 3 4 5 16 15 16 15 4 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529910587 X 5020191 A AT 480 PASS - - - - - Ins - I 5020191 5020201 1 16 421.242 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 7 1 10 3 32 17 32 18 10 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529913409 X 17146611 TC T 480 PASS REPS2 CCDS14180.2 r.? - - Del intronic D 17146611 17146613 1 21 433.886 - - 1 1 1 REPS2|CCDS14180.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 REPS2|CCDS14180.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 13 4 13 0 0 ./. 6 2 8 3 23 12 23 12 8 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529914770 X 24254889 AC A 269 PASS - - - - - Del - D 24254889 24254891 1 12 271.179 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 3 2 21 19 21 19 3 2 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529918565 X 42811286 TAA T 900 PASS - - - - - Del - D 42811286 42811289 2 70 803.301 - - 2 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 9 8 10 21 20 21 20 8 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529921917 X 64619774 TGG T 480 PASS - - - - - Del - D 64619774 64619780 2 25 433.886 - - 5 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 4 4 6 16 21 16 21 4 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529924085 X 75533520 TCATCACAG T 406 PASS - - - - - Del - D 75533520 75533529 8 55 759.3 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 10 5 10 23 21 23 21 5 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529924706 X 78892479 TTTTATTATA T 493 PASS - - - - - Del - D 78892479 78892489 9 88 920.803 - - 1 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 10 7 13 8 19 22 19 22 13 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529929310 X 99443176 AGGAAT A 449 PASS - - - - - Del - D 99443176 99443184 5 25 433.886 - - 1 1 1 - - ./. 0 0 0 0 4 17 4 17 0 0 ./. 4 4 4 4 15 16 15 16 4 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529930606 X 106506817 CA C 540 PASS - - - - - Del - D 106506817 106506819 1 30 482.101 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 4 7 5 22 16 22 16 7 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529931190 X 110320187 ATAAATTCAG A 493 PASS PAK3 CCDS14554.1 r.? - - Del intronic D 110320187 110320200 9 78 919.599 - - 1 1 1 PAK3|CCDS14554.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PAK3|CCDS14554.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 12 5 13 5 32 14 32 14 13 5 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529931772 X 113487732 CCCTTT C 464 PASS - - - - - Del - D 113487732 113487738 5 72 865.965 - - 1 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 11 5 12 19 23 19 23 5 12 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529933704 X 121054892 ACAGCG A 261 PASS - - - - - Del - D 121054892 121054902 5 28 483.907 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 6 3 6 22 18 22 18 3 6 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529935295 X 127994644 C CA 900 PASS - - - - - Ins - I 127994644 127994653 1 70 802.096 - - 8 1 1 - - ./. 0 0 0 0 14 19 14 19 0 0 ./. 9 6 12 7 32 31 32 32 12 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529936019 X 132136036 GTAAATGTT G 348 PASS - - - - - Del - D 132136036 132136048 8 49 647.216 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 6 8 8 26 19 26 19 8 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529936940 X 136581278 AT A 480 PASS - - - - - Del - D 136581278 136581281 1 25 433.886 - - 2 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 4 5 8 23 26 23 26 5 8 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529937060 X 137017241 GC G 720 PASS - - - - - Del - D 137017241 137017245 1 48 650.226 - - 3 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 7 7 9 14 19 14 19 7 9 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529937777 X 140412963 C CGT 540 PASS - - - - - Ins - I 140412963 140412982 2 30 474.876 - - 9 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 5 4 7 7 30 22 30 22 7 7 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529937811 X 140539598 CA C 423 PASS - - - - - Del - D 140539598 140539607 1 21 433.886 - - 8 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 2 6 3 10 14 29 14 29 3 10 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529939263 X 146157260 C CT 420 PASS - - - - - Ins - I 146157260 146157270 1 20 370.017 - - 9 1 1 - - ./. 0 0 0 0 12 17 13 17 0 0 ./. 4 3 4 3 24 29 24 29 4 3 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529939960 X 149769750 TA T 360 PASS MTM1 CCDS14694.1 r.? - - Del intronic D 149769750 149769755 1 16 325.414 - - 4 1 1 MTM1|CCDS14694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTM1|CCDS14694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 4 4 14 17 14 17 4 4 1 1 1 1 1 1 1 1 2291030 PD18765a PD18765b 2529940281 X 151020149 AATCAAGCT A 609 PASS - - - - - Del - D 151020149 151020158 8 132 1135.94 - - 1 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 11 10 12 11 24 24 24 24 12 11 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539172545 1 242266152 TA T 660 PASS PLD5 CCDS1621.1 r.? - - Del intronic D 242266152 242266162 1 42 592.826 - - 9 1 1 PLD5|CCDS1621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLD5|CCDS1621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 6 7 7 23 23 23 23 7 7 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539207632 10 111517346 G GA 480 PASS - - - - - Ins - I 111517346 111517354 1 25 424.155 - - 7 1 1 - - ./. 0 0 0 0 10 10 10 11 0 0 ./. 4 4 7 5 29 30 29 30 7 5 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539220932 11 20152764 T TTA 269 PASS - - - - - Ins - I 20152764 20152765 2 10 260.577 - - 0 1 1 - - ./. 0 0 0 0 14 7 14 9 0 0 ./. 1 4 1 0 19 15 19 15 2 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539251139 11 127428454 A AT 480 PASS - - - - - Ins - I 127428454 127428463 1 24 427.881 - - 8 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 5 3 7 4 24 24 24 24 7 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539251172 11 127543835 CTG C 1169 PASS - - - - - Del - D 127543835 127543843 2 120 1080.24 - - 3 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 9 11 10 13 25 29 25 29 10 13 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539268940 12 54063224 C CA 420 PASS ATP5G2 CCDS31812.1 r.? - - Ins intronic I 54063224 54063228 1 20 370.776 - - 3 1 1 ATP5G2|CCDS31812.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP5G2|CCDS31812.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 5 15 5 0 0 ./. 3 4 3 5 25 24 25 25 3 5 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539302257 13 51747623 G GTAA 407 PASS - - - - - Ins - I 51747623 51747625 3 12 577.06 - - 0 1 1 - - ./. 0 0 0 0 5 7 6 7 0 0 ./. 11 0 12 0 29 19 29 19 12 0 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539331172 14 51709501 T TTAAAA 298 PASS TMX1 CCDS41953.1 r.? - - Ins intronic I 51709501 51709502 5 7 301.494 - - 0 1 1 TMX1|CCDS41953.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMX1|CCDS41953.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 7 3 7 0 0 ./. 0 6 0 7 15 21 15 21 0 7 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539362272 15 71448923 GGAAA G 505 PASS THSD4 CCDS10238.2 r.? - - Del intronic D 71448923 71448928 4 42 594.579 - - 1 1 1 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 6 5 6 7 18 23 18 23 6 7 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539364322 15 78831610 G GA 300 PASS PSMA4 CCDS10303.1 r.? - - Ins upstream I 78831610 78831617 1 10 268.895 - - 6 1 1 PSMA4|CCDS10303.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 PSMA4|CCDS10303.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 3 12 3 12 0 0 ./. 1 4 2 7 16 27 17 27 2 7 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539369347 15 97411461 CA C 300 PASS - - - - - Del - D 97411461 97411463 1 12 262.874 - - 1 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 2 3 20 21 20 21 2 3 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539372556 16 4163166 CT C 300 PASS ADCY9 CCDS32382.1 r.? - - Del intronic D 4163166 4163174 1 12 270.748 - - 7 1 1 ADCY9|CCDS32382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADCY9|CCDS32382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 2 3 5 42 46 42 46 3 5 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539387809 16 48887784 ATC A 300 PASS - - - - - Del - D 48887784 48887801 2 12 270.146 - - 8 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 3 3 3 52 41 52 41 3 3 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539409302 17 37378010 CTCACCCTCGCCTCTCAGCTGGGCCCTGCCTGGGCCA C 300 PASS STAC2 CCDS11335.1 r.? - - Del intronic D 37378010 37378055 36 10 271.106 - - 1 1 1 STAC2|CCDS11335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STAC2|CCDS11335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 3 10 3 0 0 ./. 1 4 0 0 15 13 15 15 1 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539430548 18 26754170 T TA 300 PASS - - - - - Ins - I 26754170 26754178 1 10 268.148 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 1 9 3 38 12 38 12 9 3 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539431199 18 29095013 T TA 660 PASS DSG2 CCDS42423.1 r.? - - Ins intronic I 29095013 29095015 1 40 588.843 - - 1 1 1 DSG2|CCDS42423.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DSG2|CCDS42423.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 12 0 0 ./. 7 4 7 5 18 20 18 20 7 5 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539431372 18 29605706 CGT C 269 PASS RNF125 CCDS11902.1 r.? - - Del intronic D 29605706 29605721 2 12 268.148 - - 7 1 - RNF125|CCDS11902.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF125|CCDS11902.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 6 0 0 ./. 2 3 2 3 18 16 18 18 2 3 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539449071 19 10283508 T TAAATA 269 PASS DNMT1 CCDS45958.1 r.? - - Ins intronic I 10283508 10283529 5 10 257.134 - - 4 1 - DNMT1|CCDS45958.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNMT1|CCDS45958.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 7 6 8 0 0 ./. 1 4 1 6 17 32 17 32 1 6 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539462206 19 54657912 AC A 480 PASS CNOT3 CCDS12880.1 r.? - - Del intronic D 54657912 54657915 1 21 433.088 - - 2 1 1 CNOT3|CCDS12880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNOT3|ENST00000457463|r.990delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 6 8 6 8 0 0 ./. 6 2 8 3 23 15 23 15 8 3 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539472196 2 29529853 AC A 420 PASS ALK CCDS33172.1 r.? - - Del intronic D 29529853 29529856 1 18 377.397 - - 2 1 1 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 2 5 4 7 15 21 15 21 4 7 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539476186 2 43476065 TCTC T 360 PASS THADA CCDS46268.1 r.? - - Del intronic D 43476065 43476070 3 15 322.882 - - 1 1 1 THADA|CCDS46268.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THADA|CCDS46268.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 4 6 6 17 24 17 24 6 6 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539478797 2 52656219 TA T 600 PASS - - - - - Del - D 52656219 52656221 1 35 539.139 - - 1 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 6 5 8 20 24 20 24 5 8 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539494760 2 117408570 A AT 600 PASS - - - - - Ins - I 117408570 117408579 1 36 529.506 - - 8 1 1 - - ./. 0 0 0 0 5 17 5 18 0 0 ./. 5 5 7 8 34 40 34 40 7 8 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539502175 2 142240468 C CA 387 PASS LRP1B CCDS2182.1 r.? - - Ins intronic I 142240468 142240476 1 21 426.495 - - 7 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 2 9 2 9 0 0 ./. 2 6 2 10 16 33 16 33 2 10 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539507403 2 161714756 ATC A 420 PASS - - - - - Del - D 161714756 161714773 2 18 377.397 - - 8 1 - - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 2 5 2 34 19 34 19 5 2 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539514992 2 189853614 T TA 540 PASS COL3A1 CCDS2297.1 r.? - - Ins intronic I 189853614 189853620 1 28 479.807 - - 5 1 1 COL3A1|CCDS2297.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL3A1|CCDS2297.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 6 5 8 19 24 19 24 5 8 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539517198 2 197236017 CAG C 720 PASS HECW2 CCDS33354.1 r.? - - Del intronic D 197236017 197236021 2 48 646.967 - - 1 1 1 HECW2|CCDS33354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HECW2|CCDS33354.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 7 5 10 6 24 24 24 24 10 6 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539520223 2 207898563 GT G 300 PASS - - - - - Del - D 207898563 207898571 1 12 269.57 - - 7 1 1 - - ./. 0 0 0 0 3 9 3 9 0 0 ./. 2 3 4 4 27 27 27 27 4 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539520309 2 208298895 G GA 300 PASS - - - - - Ins - I 208298895 208298905 1 12 262.345 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 2 3 23 33 23 33 2 3 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539521639 2 213053818 GT G 480 PASS ERBB4 CCDS2394.1 r.? - - Del intronic D 213053818 213053820 1 9 418.066 - - 1 1 1 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 8 0 11 0 28 24 28 24 11 0 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539528943 2 237902726 GT G 360 PASS - - - - - Del - D 237902726 237902728 1 7 317.463 - - 1 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 0 8 1 20 18 20 18 8 1 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539541286 20 39329955 GA G 480 PASS - - - - - Del - D 39329955 39329958 1 25 436.039 - - 2 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 4 4 5 6 12 22 12 22 5 6 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539543463 20 47709408 CA C 449 PASS CSE1L CCDS13412.1 r.? - - Del intronic D 47709408 47709410 1 24 428.814 - - 1 1 1 CSE1L|CCDS13412.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSE1L|CCDS13412.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 5 7 8 28 19 28 19 7 8 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539551782 21 15141132 A AC 261 PASS - - - - - Ins - I 15141132 15141133 1 10 485.109 - - 0 1 1 - - ./. 0 0 0 0 18 10 19 10 0 0 ./. 9 0 12 0 46 19 46 19 12 0 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539552534 21 17646552 C CT 269 PASS - - - - - Ins - I 17646552 17646560 1 12 269.505 - - 7 1 1 - - ./. 0 0 0 0 9 16 10 16 0 0 ./. 2 3 4 4 30 38 30 38 4 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539552723 21 18307416 TAAGA T 418 PASS - - - - - Del - D 18307416 18307426 4 21 435.422 - - 2 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 2 6 2 11 13 31 13 31 2 11 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539554329 21 22559543 AAAAC A 540 PASS NCAM2 CCDS42910.1 r.? - - Del intronic D 22559543 22559571 4 30 490.528 - - 6 1 - NCAM2|CCDS42910.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCAM2|CCDS42910.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 4 7 5 21 30 21 30 7 5 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539557951 21 33068632 AT A 360 PASS SFRS15 CCDS33537.1 r.? - - Del intronic D 33068632 33068637 1 15 327.018 - - 4 1 1 SFRS15|CCDS33537.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFRS15|CCDS33537.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 2 4 2 5 11 29 11 29 2 5 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539582649 3 30980329 G GT 300 PASS - - - - - Ins - I 30980329 30980339 1 10 267.06 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 4 1 4 36 34 36 34 1 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539622424 3 178129211 C CT 540 PASS KCNMB2 ENST00000437510 r.? - - Ins intronic I 178129211 178129217 1 28 480.708 - - 5 1 1 KCNMB2|ENST00000437510|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KCNMB2|ENST00000437510|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 6 3 9 4 27 25 27 25 9 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539644115 4 54988618 A AT 300 PASS FIP1L1 ENST00000507166 r.? - - Ins intronic I 54988618 54988628 1 10 264.454 - - 9 1 1 FIP1L1|ENST00000507166|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FIP1L1|ENST00000507166|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 1 4 4 4 29 32 30 32 4 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539696845 5 37098878 G GA 300 PASS - - - - - Ins - I 37098878 37098888 1 10 266.706 - - 9 1 1 - - ./. 0 0 0 0 20 9 20 9 0 0 ./. 4 1 4 1 27 14 27 14 4 1 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539701216 5 56178436 GAAGCATC G 348 PASS MAP3K1 CCDS43318.1 r.3410_3416delAAGCAUC c.3410_3416delAAGCATC p.E1137fs*9 Del frameshift D 56178436 56178444 7 45 646.357 - - 1 1 1 MAP3K1|CCDS43318.1|r.3410_3416delAAGCAUC|c.3410_3416delAAGCATC|p.E1137fs*9|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 MAP3K1|CCDS43318.1|r.3410_3416delAAGCAUC|c.3410_3416delAAGCATC|p.E1137fs*9|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 5 7 5 7 0 0 ./. 4 8 4 9 17 28 17 28 4 9 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539709711 5 88749164 G GA 389 PASS - - - - - Ins - I 88749164 88749173 1 14 367.609 - - 8 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 1 6 5 7 24 24 24 24 5 7 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539722222 5 136396162 AG A 300 PASS SPOCK1 CCDS4191.1 r.? - - Del intronic D 136396162 136396165 1 10 269.717 - - 2 1 1 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPOCK1|CCDS4191.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 1 4 2 6 23 28 23 28 2 6 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539722534 5 137516532 AT A 540 PASS BRD8 CCDS4198.1 r.? - - Del upstream D 137516532 137516538 1 28 484.165 - - 5 1 1 BRD8|CCDS4198.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KIF20A|CCDS4199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 6 7 6 22 25 22 25 7 6 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539725293 5 148360483 CAG C 300 PASS SH3TC2 ENST00000504690 r.? - - Del intronic D 148360483 148360502 2 12 270.319 - - 9 1 1 SH3TC2|ENST00000504690|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 SH3TC2|ENST00000504690|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 2 3 4 28 20 28 20 3 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539735604 6 3882405 CTA C 629 PASS - - - - - Del - D 3882405 3882408 2 36 594.014 - - 1 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 8 3 11 3 18 27 18 27 11 3 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539749681 6 45036773 C CTG 540 PASS SUPT3H CCDS34466.1 r.? - - Ins intronic I 45036773 45036778 2 30 472.657 - - 2 1 1 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 5 6 7 32 23 32 23 6 7 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539779164 6 153021888 TATTCTCTCAGTACTTGA T 348 PASS MYCT1 CCDS5239.1 r.? - - Del intronic D 153021888 153021906 17 48 643.254 - - 1 1 1 MYCT1|CCDS5239.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYCT1|CCDS5239.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 5 7 4 6 22 19 23 20 5 7 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539780798 6 158692979 CAT C 600 PASS - - - - - Del - D 158692979 158692982 2 35 540.56 - - 1 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 4 6 6 9 23 30 23 30 6 9 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539791052 7 21685755 C CA 540 PASS DNAH11 ENST00000424253 r.? - - Ins intronic I 21685755 21685764 1 28 481.349 - - 8 1 1 DNAH11|ENST00000424253|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAH11|ENST00000424253|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 6 4 7 30 27 30 27 4 7 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539791532 7 23227555 GTC G 269 PASS NUPL2 CCDS5379.1 r.? - - Del intronic D 23227555 23227573 2 6 270.427 - - 8 1 1 NUPL2|CCDS5379.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUPL2|CCDS5379.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 12 4 12 0 0 ./. 0 5 0 5 14 26 14 26 0 5 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539797480 7 44109405 GGT G 300 PASS POLM CCDS34625.1 r.? - - Del downstream D 44109405 44109422 2 12 267.416 - - 8 1 - POLM|CCDS34625.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PGAM2|CCDS34624.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 2 3 2 21 20 21 20 3 2 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539804218 7 66380625 AC A 389 PASS - - - - - Del - D 66380625 66380628 1 20 370.168 - - 2 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 3 4 4 4 14 16 14 16 4 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539810446 7 85918309 TA T 480 PASS - - - - - Del - D 85918309 85918319 1 25 430.876 - - 9 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 4 6 4 27 20 27 20 6 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539812307 7 93353469 AAG A 269 PASS GNGT1 ENST00000455502 r.? - - Del intronic D 93353469 93353483 2 12 267.416 - - 6 1 1 GNGT1|ENST00000455502|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GNGT1|ENST00000455502|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 3 2 3 3 21 21 21 21 3 3 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539836679 8 20034170 ATT A 480 PASS SLC18A1 CCDS6013.1 r.? - - Del intronic D 20034170 20034177 2 24 431.505 - - 6 1 1 SLC18A1|CCDS6013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC18A1|CCDS6013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 5 4 6 6 14 6 14 4 6 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539841447 8 39068430 CTG C 360 PASS ADAM32 CCDS47846.1 r.? - - Del intronic D 39068430 39068448 2 15 323.478 - - 8 1 1 ADAM32|CCDS47846.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAM32|CCDS47846.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 4 3 6 48 57 48 57 3 6 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539842504 8 41576439 CCAACTCCCCTATAACAGTACGTGGCCTGTGGGCA C 377 PASS ANK1 CCDS47849.1 r.? - - Del intronic D 41576439 41576475 34 54 700.368 - - 1 1 1 ANK1|CCDS47849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANK1|CCDS47849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 8 5 6 3 25 30 28 32 9 5 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539849164 8 64255079 G GA 569 PASS - - - - - Ins - I 64255079 64255089 1 20 494.378 - - 9 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 1 9 1 0 31 36 31 37 2 9 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539857209 8 85791026 G GA 300 PASS RALYL ENST00000399361 r.? - - Ins intronic I 85791026 85791036 1 10 261.036 - - 9 1 1 RALYL|ENST00000399361|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RALYL|ENST00000399361|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 15 7 0 0 ./. 1 4 2 4 53 59 53 59 2 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539863589 8 103426505 TAC T 300 PASS UBR5 CCDS34933.1 r.? - - Del upstream D 103426505 103426523 2 10 270.067 - - 8 1 1 UBR5|CCDS34933.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 UBR5|CCDS34933.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 5 8 5 0 0 ./. 1 4 1 4 32 39 32 39 1 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539863806 8 103927993 TTC T 269 PASS - - - - - Del - D 103927993 103927997 2 6 264.046 - - 1 1 - - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 5 0 9 0 45 30 46 30 9 0 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539867628 8 114470361 ATG A 300 PASS - - - - - Del - D 114470361 114470380 2 12 265.853 - - 9 1 - - - ./. 0 0 0 0 21 9 21 9 0 0 ./. 2 3 3 3 41 34 41 34 3 3 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539874882 8 134134206 TTC T 360 PASS TG CCDS34944.1 r.? - - Del intronic D 134134206 134134224 2 15 324.08 - - 8 1 - TG|CCDS34944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TG|CCDS34944.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 6 2 49 41 49 41 6 2 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539876867 8 139743906 AGT A 300 PASS COL22A1 CCDS6376.1 r.? - - Del intronic D 139743906 139743910 2 12 261.036 - - 1 1 1 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL22A1|CCDS6376.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 3 5 4 42 39 42 39 5 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539877882 8 142525529 C CCCCTG 377 PASS ENSG00000226490 ENST00000427937 r.? - - Ins intronic I 142525529 142525544 5 14 658.826 - - 2 1 1 ENSG00000226490|ENST00000427937|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000226490|ENST00000427937|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 13 0 1 0 42 6 42 6 14 0 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539884031 9 18550251 ATTAAGGTTGCAGACCTTAAGATC A 377 PASS ADAMTSL1 CCDS47954.1 r.? - - Del intronic D 18550251 18550287 23 36 703.897 - - 1 1 1 ADAMTSL1|CCDS47954.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTSL1|CCDS47954.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 2 11 2 9 14 19 14 21 2 11 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539890915 9 66465479 GGGTATTTAGTTT GGACATTAGGTT 264 PASS - - - - - Complex - DI 66465480 66465491 12 45 0 - - 0 1 1 - - ./. 0 0 0 0 43 67 43 67 0 0 ./. 4 8 0 0 114 138 114 138 4 8 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539896703 9 83246935 AAG A 300 PASS - - - - - Del - D 83246935 83246952 2 10 259.754 - - 8 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 1 4 1 23 28 23 28 4 1 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539903237 9 109097548 GTT G 538 PASS - - - - - Del - D 109097548 109097552 2 35 540.579 - - 3 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 4 6 4 25 24 25 24 6 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539908077 9 126726946 T TG 360 PASS - - - - - Ins - I 126726946 126726953 1 15 321.819 - - 6 1 1 - - ./. 0 0 0 0 3 13 3 13 0 0 ./. 2 4 3 4 15 19 15 19 3 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539912083 9 141071520 GTGTCTCAGAGCAGTTTACAGCAA G 490 PASS - - - - - Del - D 141071520 141071547 23 38 1029.93 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 18 1 15 1 40 18 42 19 18 2 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539913364 X 6656294 CA C 660 PASS - - - - - Del - D 6656294 6656296 1 42 596.898 - - 1 1 1 - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 5 6 5 7 18 22 18 22 5 7 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539923839 X 64093411 G GA 569 PASS - - - - - Ins - I 64093411 64093420 1 36 529.389 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 5 6 7 27 20 27 20 6 7 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539924297 X 67243804 A AC 300 PASS - - - - - Ins - I 67243804 67243807 1 12 268.307 - - 2 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 3 2 6 4 21 27 21 27 6 4 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539925731 X 74769825 TA T 403 PASS - - - - - Del - D 74769825 74769832 1 36 541.43 - - 6 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 5 6 6 29 19 29 19 6 6 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539935623 X 123119089 C CT 600 PASS STAG2 CCDS14607.1 r.? - - Ins intronic I 123119089 123119098 1 32 535.409 - - 8 1 1 STAG2|CCDS14607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 STAG2|CCDS14607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 7 3 9 6 34 22 35 22 9 6 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539937051 X 129095713 CT C 540 PASS - - - - - Del - D 129095713 129095719 1 24 485.963 - - 5 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 7 3 9 22 21 22 21 3 9 1 1 1 1 1 1 1 1 2291371 PD18772a PD18772b 2539938047 X 135180292 A AATAT 327 PASS - - - - - Ins - I 135180292 135180294 4 20 356.364 - - 0 1 1 - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 4 3 5 4 21 16 22 16 5 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766651884 1 56474426 C CA 600 PASS - - - - - Ins - I 56474426 56474434 1 35 527.54 - - 7 1 1 - - ./. 0 0 0 0 27 19 27 19 0 0 ./. 4 6 7 9 23 36 24 36 7 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766654464 1 64002846 AT A 360 PASS EFCAB7 CCDS30737.1 r.? - - Del intronic D 64002846 64002850 1 15 322.304 - - 3 1 1 EFCAB7|CCDS30737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EFCAB7|CCDS30737.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 11 28 11 0 0 ./. 4 2 4 3 38 25 38 25 4 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766656419 1 69877455 GT G 600 PASS - - - - - Del - D 69877455 69877457 1 35 537.173 - - 1 1 1 - - ./. 0 0 0 0 27 21 27 21 0 0 ./. 4 6 5 10 29 32 29 32 5 10 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766656514 1 70135151 G GT 660 PASS LRRC7 ENST00000310961 r.? - - Ins intronic I 70135151 70135159 1 42 584.268 - - 7 1 1 LRRC7|ENST00000310961|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LRRC7|ENST00000310961|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 29 35 29 36 0 0 ./. 5 6 7 6 28 31 28 31 7 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766656958 1 71612320 C CA 780 PASS - - - - - Ins - I 71612320 71612324 1 56 690.498 - - 3 1 1 - - ./. 0 0 0 0 36 33 36 33 0 0 ./. 6 7 9 9 27 25 27 25 9 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766660909 1 83260579 TA T 360 PASS - - - - - Del - D 83260579 83260581 1 16 322.304 - - 1 1 1 - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 3 3 5 5 21 23 21 23 5 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766665325 1 95235263 A AC 660 PASS - - - - - Ins - I 95235263 95235264 1 42 583.063 - - 0 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 6 6 9 28 25 28 26 6 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766666562 1 99208931 GT G 360 PASS SNX7 CCDS755.2 r.? - - Del intronic D 99208931 99208939 1 15 322.304 - - 7 1 1 SNX7|CCDS755.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX7|CCDS755.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 4 2 6 3 26 18 26 18 6 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766668394 1 104520056 CT C 780 PASS - - - - - Del - D 104520056 104520063 1 56 698.325 - - 6 1 1 - - ./. 0 0 0 0 16 27 16 27 0 0 ./. 6 7 7 8 25 28 25 28 7 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766668742 1 105322755 T TA 480 PASS - - - - - Ins - I 105322755 105322762 1 24 421.309 - - 6 1 1 - - ./. 0 0 0 0 18 29 19 30 0 0 ./. 3 5 4 9 23 27 24 27 4 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766678346 1 149997027 C CA 360 PASS - - - - - Ins - I 149997027 149997031 1 15 318.691 - - 3 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 2 4 4 7 27 23 27 23 4 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766683847 1 165906911 A AG 720 PASS - - - - - Ins - I 165906911 165906917 1 45 636.179 - - 5 1 1 - - ./. 0 0 0 0 16 17 16 18 0 0 ./. 4 8 5 12 26 30 26 30 5 12 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766685414 1 170714518 CA C 540 PASS - - - - - Del - D 170714518 170714522 1 18 483.456 - - 3 1 1 - - ./. 0 0 0 0 25 21 25 21 0 0 ./. 8 1 9 1 19 18 19 18 9 1 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766685456 1 170895051 A AT 389 PASS - - - - - Ins - I 170895051 170895060 1 20 354.949 - - 8 1 1 - - ./. 0 0 0 0 19 47 19 47 0 0 ./. 4 3 8 5 18 34 19 34 8 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766692862 1 193536223 C CT 300 PASS - - - - - Ins - I 193536223 193536229 1 10 265.576 - - 5 1 1 - - ./. 0 0 0 0 20 22 20 22 0 0 ./. 1 4 1 8 19 18 19 18 1 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766693310 1 194711190 T TA 300 PASS - - - - - Ins - I 194711190 194711198 1 10 265.576 - - 7 1 1 - - ./. 0 0 0 0 27 19 27 19 0 0 ./. 4 1 4 1 30 26 30 26 4 1 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766700366 1 214929316 CT C 809 PASS - - - - - Del - D 214929316 214929318 1 63 752.042 - - 1 1 1 - - ./. 0 0 0 0 27 23 27 23 0 0 ./. 8 6 8 8 33 20 33 20 8 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766723960 10 26431522 AC A 660 PASS MYO3A CCDS7148.1 r.? - - Del intronic D 26431522 26431528 1 42 592.953 - - 5 1 1 MYO3A|CCDS7148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO3A|CCDS7148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 18 25 18 0 0 ./. 6 5 7 7 28 23 28 23 7 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766730717 10 43432785 CATCGC CCA 387 PASS - - - - - Complex - DI 43432786 43432790 5 24 0 - - 0 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 5 3 0 0 11 19 11 19 5 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766734774 10 57094384 AT A 300 PASS PCDH15 ENST00000373957 r.? - - Del intronic D 57094384 57094392 1 10 268.32 - - 7 1 1 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 7 22 7 0 0 ./. 4 1 5 1 26 8 26 8 5 1 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766735153 10 58221830 GA G 420 PASS - - - - - Del - D 58221830 58221832 1 20 377.334 - - 1 1 1 - - ./. 0 0 0 0 25 11 25 11 0 0 ./. 4 3 6 5 25 21 25 21 6 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766735982 10 60249293 TGTA T 300 PASS - - - - - Del - D 60249293 60249299 3 12 265.912 - - 1 1 1 - - ./. 0 0 0 0 33 19 33 19 0 0 ./. 2 3 3 3 23 19 23 19 3 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766737882 10 65986856 G GT 660 PASS - - - - - Ins - I 65986856 65986864 1 42 584.525 - - 7 1 1 - - ./. 0 0 0 0 29 23 30 23 0 0 ./. 6 5 8 8 24 28 24 28 8 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766744462 10 84123752 G GA 287 PASS NRG3 CCDS31233.1 r.? - - Ins intronic I 84123752 84123762 1 12 266.514 - - 9 1 1 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 30 17 30 0 0 ./. 2 3 2 3 23 35 24 35 2 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766756641 10 119026091 AT A 389 PASS SLC18A2 CCDS7599.1 r.? - - Del intronic D 119026091 119026093 1 8 376.13 - - 1 1 1 SLC18A2|CCDS7599.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC18A2|CCDS7599.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 19 25 19 0 0 ./. 0 7 3 9 19 23 19 23 3 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766758144 10 123069655 A ACGT 387 PASS - - - - - Ins - I 123069655 123069657 3 21 416.789 - - 0 1 1 - - ./. 0 0 0 0 23 18 23 18 0 0 ./. 6 2 8 2 36 20 36 20 8 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766760666 10 129663037 AG A 300 PASS - - - - - Del - D 129663037 129663039 1 6 269.524 - - 1 1 1 - - ./. 0 0 0 0 32 30 32 30 0 0 ./. 5 0 5 1 15 18 15 18 5 1 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766771717 11 25194203 C CT 300 PASS - - - - - Ins - I 25194203 25194207 1 6 266.84 - - 3 1 - - - ./. 0 0 0 0 23 15 23 16 0 0 ./. 5 0 5 0 18 27 18 27 5 0 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766773150 11 28766700 GC G 600 PASS - - - - - Del - D 28766700 28766703 1 35 536.088 - - 2 1 1 - - ./. 0 0 0 0 19 24 19 24 0 0 ./. 6 4 6 8 22 31 22 31 6 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766776660 11 38866643 GACTT G 718 PASS - - - - - Del - D 38866643 38866655 4 44 701.611 - - 2 1 1 - - ./. 0 0 0 0 25 25 25 25 0 0 ./. 10 3 10 3 24 26 24 26 10 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766788983 11 76472994 GCACCT G 298 PASS - - - - - Del - D 76472994 76473002 5 15 323.82 - - 1 1 1 - - ./. 0 0 0 0 23 15 23 15 0 0 ./. 2 4 2 4 20 26 20 26 2 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766793109 11 88791250 C CA 480 PASS GRM5 CCDS44694.1 r.? - - Ins intronic I 88791250 88791260 1 25 426.944 - - 9 1 1 GRM5|CCDS44694.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GRM5|CCDS44694.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 25 17 26 0 0 ./. 4 4 7 5 35 36 35 36 7 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766793719 11 90573751 C CA 720 PASS - - - - - Ins - I 90573751 90573759 1 45 639.814 - - 7 1 1 - - ./. 0 0 0 0 22 31 22 32 0 0 ./. 4 8 5 11 22 35 23 35 5 11 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766815429 12 15373277 G GT 300 PASS RERG CCDS8673.1 r.? - - Ins intronic I 15373277 15373287 1 12 261.567 - - 9 1 1 RERG|CCDS8673.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RERG|CCDS8673.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 27 26 28 0 0 ./. 2 3 2 3 32 25 33 25 2 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766828041 12 51634107 A AT 300 PASS DAZAP2 CCDS8809.1 r.? - - Ins intronic I 51634107 51634115 1 10 266.384 - - 7 1 1 DAZAP2|CCDS8809.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DAZAP2|CCDS8809.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 4 1 4 1 19 14 20 14 4 1 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766831683 12 62330901 CAAGGAACTAAAAA C 290 PASS FAM19A2 CCDS8962.1 r.? - - Del intronic D 62330901 62330916 13 35 537.583 - - 1 1 1 FAM19A2|CCDS8962.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM19A2|CCDS8962.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 25 24 25 0 0 ./. 6 4 5 5 28 30 29 30 6 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766835739 12 74632708 AC A 780 PASS - - - - - Del - D 74632708 74632712 1 44 699.581 - - 3 1 1 - - ./. 0 0 0 0 28 19 28 19 0 0 ./. 10 3 13 4 43 20 43 20 13 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766838949 12 84381101 GGAAT G 274 PASS - - - - - Del - D 84381101 84381106 4 12 322.189 - - 1 1 1 - - ./. 0 0 0 0 25 2 25 2 0 0 ./. 1 5 1 5 15 19 15 19 1 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766844131 12 101995810 T TA 600 PASS MYBPC1 CCDS9083.1 r.? - - Ins intronic I 101995810 101995819 1 35 533.971 - - 8 1 1 MYBPC1|CCDS9083.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYBPC1|CCDS9083.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 31 15 31 16 0 0 ./. 6 4 6 6 19 24 19 24 6 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766852189 12 127473114 TTC T 300 PASS AC078878.2 ENST00000512624 r.? - - Del intronic D 127473114 127473130 2 12 269.996 - - 7 1 1 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 16 21 16 0 0 ./. 3 2 3 2 20 17 20 17 3 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766860530 13 31785695 T TA 540 PASS B3GALTL CCDS9341.1 r.? - - Ins intronic I 31785695 31785696 1 30 481.283 - - 0 1 1 B3GALTL|CCDS9341.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 B3GALTL|CCDS9341.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 25 18 25 0 0 ./. 5 4 7 6 27 19 27 20 7 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766861307 13 33918080 C CT 269 PASS - - - - - Ins - I 33918080 33918090 1 12 266.777 - - 9 1 1 - - ./. 0 0 0 0 25 14 26 14 0 0 ./. 3 2 3 2 39 19 39 19 3 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766867460 13 50264566 A AC 300 PASS EBPL CCDS9420.1 r.? - - Ins intronic I 50264566 50264567 1 10 264.971 - - 0 1 1 EBPL|CCDS9420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EBPL|CCDS9420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 14 10 0 0 ./. 1 4 1 5 14 17 16 17 1 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766868388 13 52862549 ACT A 300 PASS - - - - - Del - D 52862549 52862554 2 10 270.39 - - 2 1 1 - - ./. 0 0 0 0 34 32 34 32 0 0 ./. 1 4 3 4 24 32 24 32 3 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766873300 13 66299225 CTG C 780 PASS - - - - - Del - D 66299225 66299229 2 50 703.014 - - 1 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 4 9 5 11 22 34 22 34 5 11 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766874140 13 68860017 C CTATA 389 PASS - - - - - Ins - I 68860017 68860033 4 14 361.688 - - 7 1 - - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 6 2 8 34 30 35 30 2 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766875468 13 72280332 CT C 300 PASS DACH1 ENST00000305425 r.? - - Del intronic D 72280332 72280335 1 12 269.186 - - 2 1 1 DACH1|ENST00000305425|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DACH1|ENST00000305425|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 23 9 23 0 0 ./. 2 3 3 4 8 22 8 22 3 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766880368 13 85553581 ATTGT A 298 PASS - - - - - Del - D 85553581 85553588 4 16 322.662 - - 1 1 1 - - ./. 0 0 0 0 28 19 28 19 0 0 ./. 3 3 6 5 34 17 34 17 6 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766883264 13 93098194 C CT 265 PASS GPC5 CCDS9468.1 r.? - - Ins intronic I 93098194 93098203 1 15 320.855 - - 8 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 26 18 26 0 0 ./. 2 4 5 5 16 23 16 23 5 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766891995 14 20420758 GA G 540 PASS - - - - - Del - D 20420758 20420761 1 30 487.385 - - 2 1 1 - - ./. 0 0 0 0 29 27 29 27 0 0 ./. 5 4 5 5 44 31 44 31 5 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766895456 14 29329024 G GT 300 PASS - - - - - Ins - I 29329024 29329034 1 10 264.749 - - 9 1 1 - - ./. 0 0 0 0 27 24 27 24 0 0 ./. 1 4 1 4 22 29 22 30 1 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766902049 14 47658730 T TA 300 PASS MDGA2 CCDS41948.1 r.? - - Ins intronic I 47658730 47658740 1 12 267.759 - - 9 1 1 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 19 25 19 0 0 ./. 3 2 3 2 44 33 44 33 3 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766924725 15 21914801 CCTCTT C 449 PASS - - - - - Del - D 21914801 21914809 5 24 433.414 - - 1 1 1 - - ./. 0 0 0 0 59 65 59 65 0 0 ./. 5 3 5 4 61 88 61 88 5 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766925787 15 24046006 TA T 420 PASS - - - - - Del - D 24046006 24046014 1 18 379.237 - - 7 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 2 5 3 6 8 16 8 16 3 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766929585 15 34523957 A AT 509 PASS SLC12A6 CCDS42011.1 r.5993_5994insa c.? p.? Ins 3'UTR variant I 34523957 34523965 1 28 465.917 - - 7 1 1 SLC12A6|CCDS42011.1|r.5993_5994insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 SLC12A6|CCDS42011.1|r.5993_5994insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 26 13 26 13 0 0 ./. 6 3 7 4 29 7 29 7 7 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766931410 15 39704419 TAA T 360 PASS - - - - - Del - D 39704419 39704422 2 12 325.06 - - 2 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 5 1 5 2 27 23 27 23 5 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766937755 15 57333999 CTTAG C 389 PASS TCF12 CCDS10159.1 r.? - - Del intronic D 57333999 57334006 4 18 378.635 - - 1 1 1 TCF12|CCDS10159.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF12|CCDS10159.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 36 15 36 15 0 0 ./. 2 5 5 6 23 28 23 28 5 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766939007 15 60322798 CAT C 360 PASS - - - - - Del - D 60322798 60322801 2 12 325.06 - - 1 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 5 1 6 2 23 15 23 15 6 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766941373 15 66169949 TG T 300 PASS RAB11A CCDS10212.1 r.? - - Del intronic D 66169949 66169951 1 12 270.884 - - 1 1 1 RAB11A|CCDS10212.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB11A|CCDS10212.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 2 3 4 4 16 21 16 21 4 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766944459 15 74901050 AAG A 780 PASS CLK3 CCDS10265.1 r.? - - Del intronic D 74901050 74901055 2 56 698.879 - - 2 1 1 CLK3|CCDS10265.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CLK3|CCDS10265.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 7 6 8 9 20 26 20 26 8 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766961112 16 16567310 TAA T 261 PASS - - - - - Del - D 16567310 16567314 2 10 487.635 - - 3 1 1 - - ./. 0 0 0 0 23 25 23 25 0 0 ./. 9 0 9 0 31 26 31 26 9 0 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766966993 16 32465364 AC A 277 PASS - - - - - Del - D 32465364 32465368 1 11 541.817 - - 3 1 1 - - ./. 0 0 0 0 23 46 23 46 0 0 ./. 10 0 14 0 43 44 43 44 14 0 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766982966 17 1120112 AAT A 569 PASS - - - - - Del - D 1120112 1120116 2 35 541.028 - - 1 1 1 - - ./. 0 0 0 0 16 17 18 17 0 0 ./. 4 6 4 10 24 22 29 22 4 10 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766995131 17 32363026 AT A 255 PASS ACCN1 CCDS42296.1 r.? - - Del intronic D 32363026 32363030 1 18 374.926 - - 3 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 19 6 19 0 0 ./. 2 5 7 8 15 29 15 29 7 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2766996468 17 36178146 G GA 360 PASS - - - - - Ins - I 36178146 36178156 1 12 319.559 - - 9 1 1 - - ./. 0 0 0 0 18 22 18 23 0 0 ./. 1 5 1 6 21 26 21 26 1 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767009713 17 69105011 GT G 480 PASS - - - - - Del - D 69105011 69105016 1 24 433.304 - - 4 1 1 - - ./. 0 0 0 0 33 19 33 19 0 0 ./. 5 3 6 4 31 25 31 25 6 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767011483 17 73378655 ATAT AT 418 PASS GRB2 CCDS11721.1 r.? - - Complex intronic DI 73378656 73378658 3 21 0 - - 0 1 1 GRB2|CCDS11721.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 GRB2|CCDS11721.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 2 6 0 0 15 21 15 21 2 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767012430 17 75566522 GTGCATGGCGCGTGGGGCCTTCTC G 377 PASS - - - - - Del - D 75566522 75566556 23 44 704.119 - - 1 1 1 - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 10 3 8 2 22 14 25 15 11 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767016543 18 4317804 GAAC G 629 PASS - - - - - Del - D 4317804 4317813 3 42 594.179 - - 2 1 1 - - ./. 0 0 0 0 23 29 23 29 0 0 ./. 5 6 5 8 19 24 19 24 5 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767032272 18 53071224 GTC G 300 PASS TCF4 CCDS42438.1 r.? - - Del intronic D 53071224 53071242 2 10 269.698 - - 8 1 1 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF4|CCDS42438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 19 20 19 0 0 ./. 1 4 1 5 22 36 22 36 1 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767037354 18 66549287 TA T 420 PASS CCDC102B CCDS11996.2 r.? - - Del intronic D 66549287 66549293 1 20 377.457 - - 5 1 1 CCDC102B|CCDS11996.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC102B|CCDS11996.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 3 4 3 8 18 19 18 19 3 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767040646 18 75109591 GT G 540 PASS - - - - - Del - D 75109591 75109593 1 28 487.625 - - 1 1 1 - - ./. 0 0 0 0 25 30 25 30 0 0 ./. 6 3 6 5 21 10 21 10 6 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767052390 19 23446957 C CA 480 PASS ENSG00000213971 ENST00000397094 r.? - - Ins upstream I 23446957 23446963 1 25 424.441 - - 5 1 1 ENSG00000213971|ENST00000397094|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ENSG00000213971|ENST00000397094|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 15 8 17 8 0 0 ./. 4 4 6 6 19 20 19 20 6 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767055771 19 35453064 C CA 840 PASS ZNF792 CCDS12440.2 r.? - - Ins intronic I 35453064 35453066 1 64 751.2 - - 1 1 1 ZNF792|CCDS12440.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF792|CCDS12440.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 7 7 13 8 29 29 29 30 13 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767064675 19 56174897 TC T 480 PASS U2AF2 CCDS12933.1 r.? - - Del intronic D 56174897 56174901 1 24 434.074 - - 3 1 1 U2AF2|CCDS12933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 U2AF2|CCDS12933.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 5 3 6 4 16 17 16 17 6 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767066530 2 1589021 CG C 480 PASS - - - - - Del - D 1589021 1589025 1 25 427.996 - - 3 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 4 5 7 18 19 18 19 5 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767067832 2 6114078 C CA 420 PASS ENSG00000212983 ENST00000391666 r.? - - Ins downstream I 6114078 6114085 1 14 371.862 - - 6 1 1 ENSG00000212983|ENST00000391666|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000212983|ENST00000391666|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 28 12 28 12 0 0 ./. 1 6 2 9 21 29 21 29 2 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767087536 2 65587319 CT C 720 PASS SPRED2 CCDS33211.1 r.? - - Del intronic D 65587319 65587323 1 48 637.478 - - 3 1 1 SPRED2|CCDS33211.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPRED2|CCDS33211.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 29 22 29 0 0 ./. 7 5 9 6 25 19 25 19 9 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767100428 2 107339192 GA G 540 PASS - - - - - Del - D 107339192 107339202 1 28 483.527 - - 9 1 1 - - ./. 0 0 0 0 20 15 23 19 0 0 ./. 6 3 9 7 24 26 27 28 9 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767103321 2 116678097 C CT 360 PASS - - - - - Ins - I 116678097 116678104 1 12 317.535 - - 6 1 - - - ./. 0 0 0 0 27 31 27 31 0 0 ./. 5 1 7 11 35 27 35 27 7 11 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767104258 2 119651596 AG A 300 PASS - - - - - Del - D 119651596 119651601 1 12 268.626 - - 4 1 1 - - ./. 0 0 0 0 24 16 24 16 0 0 ./. 2 3 2 5 13 21 13 21 2 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767119937 2 164564831 AT A 540 PASS FIGN CCDS2221.2 r.? - - Del intronic D 164564831 164564837 1 30 483.527 - - 5 1 1 FIGN|CCDS2221.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FIGN|CCDS2221.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 4 5 6 9 18 31 18 31 6 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767122977 2 172385500 TCTC T 540 PASS CYBRD1 CCDS2244.1 r.? - - Del intronic D 172385500 172385506 3 30 483.527 - - 1 1 1 CYBRD1|CCDS2244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYBRD1|CCDS2244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 27 14 27 0 0 ./. 4 5 5 7 16 24 16 24 5 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767128816 2 189412488 AC A 540 PASS GULP1 CCDS2295.1 r.? - - Del intronic D 189412488 189412490 1 24 482.925 - - 1 1 1 GULP1|CCDS2295.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GULP1|CCDS2295.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 34 30 34 0 0 ./. 2 7 6 10 31 32 31 32 6 10 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767137864 2 214981781 TCAGA T 480 PASS SPAG16 CCDS2396.1 r.? - - Del intronic D 214981781 214981788 4 24 429.802 - - 1 1 1 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 26 30 26 0 0 ./. 5 3 7 5 41 31 41 31 7 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767172030 21 10159639 GT G 322 PASS - - - - - Del - D 10159639 10159646 1 12 597.032 - - 6 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 11 0 13 0 214 2 214 2 13 0 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767210099 3 25603598 GT G 360 PASS RARB CCDS2642.1 r.? - - Del intronic D 25603598 25603601 1 15 322.323 - - 2 1 1 RARB|CCDS2642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RARB|CCDS2642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 22 19 22 0 0 ./. 4 2 7 3 16 24 16 24 7 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767210526 3 26931551 ATC A 420 PASS - - - - - Del - D 26931551 26931571 2 18 376.144 - - 9 1 1 - - ./. 0 0 0 0 19 25 19 25 0 0 ./. 5 2 5 3 26 30 26 30 5 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767241355 3 118782241 AT A 420 PASS IGSF11 CCDS2983.1 r.? - - Del intronic D 118782241 118782246 1 18 376.746 - - 4 1 1 IGSF11|CCDS2983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGSF11|CCDS2983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 20 31 20 0 0 ./. 2 5 2 6 24 25 24 25 2 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767243448 3 124687728 AAC A 840 PASS HEG1 CCDS46898.1 r.5980_5981delGU c.? p.? Del 3'UTR variant D 124687728 124687732 2 63 753.493 - - 1 1 1 HEG1|CCDS46898.1|r.5980_5981delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 HEG1|CCDS46898.1|r.5980_5981delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 27 20 27 20 0 0 ./. 6 8 6 8 18 31 18 31 6 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767256122 3 163170877 CA C 720 PASS - - - - - Del - D 163170877 163170879 1 45 645.851 - - 1 1 1 - - ./. 0 0 0 0 3 23 3 23 0 0 ./. 4 8 5 9 18 23 18 23 5 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767259000 3 171821161 CG C 600 PASS FNDC3B CCDS3217.1 r.? - - Del intronic D 171821161 171821164 1 32 538.209 - - 2 1 1 FNDC3B|CCDS3217.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FNDC3B|CCDS3217.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 25 28 25 0 0 ./. 3 7 6 9 24 28 24 28 6 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767266432 3 192370325 C CT 600 PASS FGF12 CCDS46983.1 r.? - - Ins intronic I 192370325 192370328 1 27 532.188 - - 2 1 1 FGF12|CCDS46983.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FGF12|CCDS46983.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 28 23 28 0 0 ./. 8 2 10 2 26 19 26 21 10 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767289933 4 61118003 AT A 360 PASS - - - - - Del - D 61118003 61118007 1 16 322.737 - - 3 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 3 3 6 3 23 16 23 16 6 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767294169 4 72145014 A AT 300 PASS SLC4A4 CCDS47071.1 r.? - - Ins intronic I 72145014 72145024 1 12 265.938 - - 9 1 1 SLC4A4|CCDS47071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC4A4|CCDS47071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 29 23 29 0 0 ./. 3 2 3 2 35 21 35 21 3 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767294303 4 72556902 A AT 420 PASS - - - - - Ins - I 72556902 72556911 1 14 369.302 - - 8 1 1 - - ./. 0 0 0 0 34 7 34 7 0 0 ./. 6 1 9 2 29 17 29 17 10 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767309098 4 117793827 AG A 360 PASS - - - - - Del - D 117793827 117793829 1 15 322.737 - - 1 1 1 - - ./. 0 0 0 0 29 8 29 8 0 0 ./. 2 4 3 8 26 31 26 31 3 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767312347 4 126558719 C CA 420 PASS - - - - - Ins - I 126558719 126558726 1 20 370.506 - - 6 1 1 - - ./. 0 0 0 0 35 21 35 21 0 0 ./. 4 3 8 6 32 29 33 29 8 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767314617 4 133002896 A AT 449 PASS - - - - - Ins - I 133002896 133002906 1 24 418.878 - - 9 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 5 3 7 2 30 17 30 17 7 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767332502 4 182187201 T TA 600 PASS - - - - - Ins - I 182187201 182187204 1 35 531.875 - - 2 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 6 4 9 6 44 24 44 25 9 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767340933 5 9933985 CA C 540 PASS - - - - - Del - D 9933985 9933989 1 30 484.853 - - 3 1 1 - - ./. 0 0 0 0 17 31 17 31 0 0 ./. 5 4 5 6 29 27 29 27 5 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767346854 5 25753487 C CT 360 PASS - - - - - Ins - I 25753487 25753495 1 16 319.021 - - 7 1 1 - - ./. 0 0 0 0 26 22 26 22 0 0 ./. 3 3 8 5 35 31 35 31 8 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767348543 5 29887066 AG A 480 PASS - - - - - Del - D 29887066 29887068 1 24 430.98 - - 1 1 1 - - ./. 0 0 0 0 17 31 17 31 0 0 ./. 3 5 3 7 18 21 18 21 3 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767355853 5 53928133 ATGCCAAGACAGAGCCC A 406 PASS - - - - - Del - D 53928133 53928152 16 48 754.215 - - 1 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 3 11 3 10 32 27 32 28 3 11 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767358422 5 61261756 GT G 660 PASS - - - - - Del - D 61261756 61261760 1 42 591.393 - - 3 1 1 - - ./. 0 0 0 0 24 25 24 25 0 0 ./. 5 6 7 8 30 28 30 28 7 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767361531 5 71250789 TTG T 300 PASS - - - - - Del - D 71250789 71250805 2 12 265.75 - - 7 1 1 - - ./. 0 0 0 0 24 21 24 21 0 0 ./. 2 3 2 3 19 36 19 36 2 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767369294 5 94219912 ATT A 540 PASS MCTP1 CCDS47247.1 r.? - - Del intronic D 94219912 94219916 2 18 484.853 - - 3 1 1 MCTP1|CCDS47247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCTP1|CCDS47247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 25 27 25 0 0 ./. 1 8 6 15 23 35 23 35 6 15 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767371095 5 99446253 C CT 840 PASS - - - - - Ins - I 99446253 99446263 1 64 740.368 - - 9 1 1 - - ./. 0 0 0 0 19 28 20 28 0 0 ./. 7 7 10 9 38 36 38 36 10 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767379162 5 123772817 AG A 660 PASS - - - - - Del - D 123772817 123772821 1 40 592.598 - - 3 1 1 - - ./. 0 0 0 0 28 16 28 16 0 0 ./. 7 4 7 6 32 19 32 19 7 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767390179 5 158122704 AC A 600 PASS EBF1 CCDS4343.1 r.? - - Del downstream D 158122704 158122707 1 35 536.919 - - 2 1 1 EBF1|CCDS4343.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 EBF1|CCDS4343.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 17 21 17 21 0 0 ./. 6 4 11 9 31 25 31 25 11 9 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767391333 5 161638116 A AAATT 420 PASS - - - - - Ins - I 161638116 161638139 4 20 360.25 - - 5 1 - - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 3 4 4 5 24 19 25 19 4 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767394306 5 170316065 CT C 360 PASS RANBP17 CCDS34287.1 r.? - - Del intronic D 170316065 170316075 1 15 323.235 - - 9 1 1 RANBP17|CCDS34287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RANBP17|CCDS34287.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 33 23 33 23 0 0 ./. 4 2 7 5 27 21 27 21 7 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767418057 6 50255238 C CA 720 PASS - - - - - Ins - I 50255238 50255245 1 48 638.646 - - 6 1 1 - - ./. 0 0 0 0 21 23 21 23 0 0 ./. 5 7 7 8 29 25 29 25 7 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767432004 6 90826311 AT A 300 PASS BACH2 CCDS5026.1 r.? - - Del intronic D 90826311 90826315 1 10 266.354 - - 3 1 1 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BACH2|CCDS5026.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 21 28 21 0 0 ./. 4 1 8 4 25 28 25 28 8 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767436304 6 104400129 CA C 360 PASS - - - - - Del - D 104400129 104400138 1 16 323.237 - - 8 1 1 - - ./. 0 0 0 0 26 20 26 20 0 0 ./. 3 3 3 4 21 23 21 23 3 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767436445 6 104775115 G GT 600 PASS - - - - - Ins - I 104775115 104775122 1 32 532.707 - - 6 1 1 - - ./. 0 0 0 0 26 29 26 30 0 0 ./. 7 3 8 6 30 37 30 42 8 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767444468 6 128477626 AAG A 300 PASS PTPRK CCDS47473.1 r.? - - Del intronic D 128477626 128477642 2 12 268.762 - - 7 1 1 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRK|CCDS47473.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 2 3 2 3 26 30 26 30 2 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767444628 6 128920535 A AT 660 PASS - - - - - Ins - I 128920535 128920544 1 42 585.376 - - 8 1 1 - - ./. 0 0 0 0 22 20 23 20 0 0 ./. 5 6 8 7 22 26 22 27 8 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767448380 6 141071635 GCT G 300 PASS - - - - - Del - D 141071635 141071653 2 12 269.364 - - 8 1 1 - - ./. 0 0 0 0 30 27 30 27 0 0 ./. 2 3 2 4 18 28 18 28 2 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767451863 6 151970756 C CA 360 PASS - - - - - Ins - I 151970756 151970764 1 15 319.624 - - 7 1 1 - - ./. 0 0 0 0 35 24 35 24 0 0 ./. 4 2 5 3 28 15 28 15 5 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767457143 6 166266085 A AG 900 PASS - - - - - Ins - I 166266085 166266088 1 72 798.459 - - 2 1 1 - - ./. 0 0 0 0 21 31 21 32 0 0 ./. 8 7 10 8 27 23 27 24 10 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767459346 7 1840604 CTG C 360 PASS - - - - - Del - D 1840604 1840613 2 16 323.371 - - 4 1 1 - - ./. 0 0 0 0 26 18 26 18 0 0 ./. 3 3 4 3 20 12 20 12 4 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767465225 7 17169601 G GA 480 PASS - - - - - Ins - I 17169601 17169610 1 25 422.733 - - 8 1 1 - - ./. 0 0 0 0 24 29 24 29 0 0 ./. 4 4 4 5 33 31 33 32 4 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767466746 7 21562306 TATC T 658 PASS - - - - - Del - D 21562306 21562312 3 45 646.743 - - 1 1 1 - - ./. 0 0 0 0 16 26 16 26 0 0 ./. 4 8 6 10 11 33 11 33 6 10 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767470236 7 31575047 CAGT C 658 PASS CCDC129 CCDS5435.2 r.? - - Del intronic D 31575047 31575053 3 45 646.743 - - 1 1 1 CCDC129|CCDS5435.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCDC129|CCDS5435.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 4 8 6 10 20 18 20 18 6 10 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767470312 7 31773455 AC A 480 PASS - - - - - Del - D 31773455 31773457 1 16 428.754 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 7 1 9 3 25 16 25 16 9 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767472264 7 37003273 CA C 420 PASS ELMO1 CCDS5449.1 r.? - - Del intronic D 37003273 37003279 1 14 377.267 - - 5 1 1 ELMO1|CCDS5449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELMO1|CCDS5449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 9 21 9 0 0 ./. 6 1 9 3 23 7 23 7 9 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767484351 7 69413587 T TA 269 PASS AUTS2 CCDS5539.1 r.? - - Ins intronic I 69413587 69413588 1 10 266.466 - - 0 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 18 10 19 0 0 ./. 1 4 1 7 7 21 8 23 1 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767497144 7 106035055 AT A 480 PASS - - - - - Del - D 106035055 106035061 1 24 426.948 - - 5 1 1 - - ./. 0 0 0 0 12 22 12 22 0 0 ./. 3 5 3 7 26 21 26 21 3 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767507143 7 135981374 TAC T 389 PASS - - - - - Del - D 135981374 135981382 2 14 377.267 - - 3 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 6 1 7 2 31 17 31 17 7 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767513706 7 153711770 GA G 300 PASS DPP6 ENST00000404039 r.? - - Del intronic D 153711770 153711780 1 6 269.476 - - 9 1 - DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 22 19 22 0 0 ./. 5 0 7 4 24 16 24 16 7 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767517232 8 4246260 GA G 360 PASS - - - - - Del - D 4246260 4246267 1 16 320.793 - - 6 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 3 5 6 24 17 24 17 5 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767522999 8 19099675 GGGGA G 540 PASS - - - - - Del - D 19099675 19099680 4 28 485.705 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 6 3 6 13 37 13 37 3 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767541125 8 77008150 AT A 749 PASS - - - - - Del - D 77008150 77008159 1 54 701.574 - - 8 1 1 - - ./. 0 0 0 0 28 37 28 37 0 0 ./. 8 5 10 6 35 27 35 27 10 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767541206 8 77251150 A AAC 329 PASS - - - - - Ins - I 77251150 77251163 2 15 316.579 - - 6 1 - - - ./. 0 0 0 0 30 22 31 23 0 0 ./. 4 2 7 3 35 17 35 18 7 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767549573 8 103589346 CCT C 300 PASS - - - - - Del - D 103589346 103589349 2 12 268.632 - - 1 1 1 - - ./. 0 0 0 0 13 27 13 27 0 0 ./. 3 2 3 4 11 26 11 26 3 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767552375 8 112133286 TA T 600 PASS - - - - - Del - D 112133286 112133288 1 27 539.672 - - 1 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 8 2 10 4 29 29 29 29 10 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767552910 8 113717980 TA T 660 PASS CSMD3 CCDS6315.1 r.? - - Del intronic D 113717980 113717987 1 40 593.639 - - 6 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 21 29 21 0 0 ./. 7 4 9 5 36 20 36 20 9 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767553556 8 115578620 AC A 780 PASS - - - - - Del - D 115578620 115578624 1 56 699.166 - - 3 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 7 6 9 10 29 34 29 34 9 10 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767555821 8 122658368 TC T 420 PASS HAS2 CCDS6335.1 r.? - - Del upstream D 122658368 122658370 1 20 372.954 - - 1 1 1 HAS2|CCDS6335.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HAS2|CCDS6335.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 3 6 6 26 19 26 19 6 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767566363 9 8328376 CGA C 540 PASS PTPRD CCDS43786.1 r.? - - Del intronic D 8328376 8328383 2 28 485.712 - - 3 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 20 21 20 0 0 ./. 6 3 6 4 27 22 27 22 6 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767567191 9 10648350 GTA G 300 PASS - - - - - Del - D 10648350 10648365 2 12 270.174 - - 7 1 1 - - ./. 0 0 0 0 17 27 17 27 0 0 ./. 3 2 4 2 30 25 30 25 4 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767570951 9 20985858 TA T 660 PASS KIAA1797 CCDS34993.1 r.? - - Del intronic D 20985858 20985864 1 40 593.781 - - 5 1 1 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1797|CCDS34993.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 26 19 26 0 0 ./. 7 4 12 5 35 19 35 19 12 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767572522 9 26554232 AT A 720 PASS - - - - - Del - D 26554232 26554234 1 45 645.408 - - 1 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 8 4 11 4 30 13 30 13 11 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767581545 9 73400292 CATTGA C 389 PASS TRPM3 CCDS43835.1 r.? - - Del intronic D 73400292 73400300 5 8 376.438 - - 1 1 1 TRPM3|CCDS43835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPM3|CCDS43835.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 27 31 27 0 0 ./. 0 7 0 7 5 27 5 27 0 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767588160 9 92458354 ACTAT A 569 PASS - - - - - Del - D 92458354 92458363 4 35 534.93 - - 2 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 6 4 9 4 29 20 29 20 9 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767595040 9 113348772 CA C 480 PASS - - - - - Del - D 113348772 113348780 1 24 432.279 - - 7 1 1 - - ./. 0 0 0 0 31 18 31 18 0 0 ./. 3 5 3 6 19 19 19 19 3 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767601638 9 131317161 G GT 569 PASS SPTAN1 CCDS48036.1 r.? - - Ins intronic I 131317161 131317163 1 32 530.716 - - 1 1 1 SPTAN1|CCDS48036.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SPTAN1|CCDS48036.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 7 4 8 19 21 19 21 4 8 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767604595 9 139220251 TCCC T 389 PASS GPSM1 CCDS48055.1 r.? - - Del upstream D 139220251 139220257 3 20 377.642 - - 5 1 1 GPSM1|CCDS48055.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 GPSM1|CCDS48055.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 19 29 19 29 0 0 ./. 4 3 6 5 22 19 22 19 6 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767605076 9 140829558 C CT 329 PASS CACNA1B ENST00000371372 r.? - - Ins intronic I 140829558 140829567 1 15 320.597 - - 8 1 1 CACNA1B|ENST00000371372|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACNA1B|ENST00000371372|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 34 29 34 0 0 ./. 4 2 4 2 31 24 31 24 4 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767610232 X 19648405 G GA 420 PASS SH3KBP1 CCDS14193.1 r.? - - Ins intronic I 19648405 19648412 1 18 374.291 - - 6 1 1 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 23 20 23 0 0 ./. 5 2 8 3 26 11 26 11 8 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767614451 X 35972108 G GA 300 PASS CXorf22 CCDS14237.2 r.? - - Ins intronic I 35972108 35972118 1 12 266.749 - - 9 1 1 CXorf22|CCDS14237.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CXorf22|CCDS14237.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 17 21 18 0 0 ./. 3 2 3 2 33 21 33 22 3 2 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767617980 X 50550606 TC T 540 PASS SHROOM4 CCDS35277.1 r.? - - Del intronic D 50550606 50550608 1 30 486.65 - - 1 1 1 SHROOM4|CCDS35277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHROOM4|CCDS35277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 24 18 24 0 0 ./. 5 4 6 7 16 28 16 28 6 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767619328 X 56810500 TG T 660 PASS - - - - - Del - D 56810500 56810506 1 40 592.988 - - 5 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 7 4 8 4 24 23 24 23 8 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767621030 X 68918505 A AT 540 PASS EDA CCDS14394.1 r.? - - Ins intronic I 68918505 68918514 1 30 481.231 - - 8 1 1 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EDA|CCDS14394.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 29 16 29 16 0 0 ./. 5 4 5 4 24 21 24 21 5 4 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767621782 X 71417470 AT A 480 PASS PIN4 CCDS14417.1 r.598delU c.? p.? Del 3'UTR variant D 71417470 71417476 1 21 432.577 - - 5 1 1 PIN4|CCDS14417.1|r.598delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 PIN4|CCDS14417.1|r.598delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 24 15 24 0 0 ./. 6 2 10 3 20 17 20 17 10 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767621962 X 72387613 AAAGAG A 565 PASS - - - - - Del - D 72387613 72387622 5 48 648.264 - - 1 1 1 - - ./. 0 0 0 0 21 20 21 20 0 0 ./. 5 7 5 7 23 30 23 30 5 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767622075 X 72911242 GC G 300 PASS - - - - - Del - D 72911242 72911245 1 12 270.361 - - 2 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 2 3 2 6 19 20 19 20 2 6 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767623232 X 77587262 AAAAC A 300 PASS CYSLTR1 CCDS14439.1 r.? - - Del upstream D 77587262 77587278 4 10 270.361 - - 3 1 1 CYSLTR1|CCDS14439.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CYSLTR1|CCDS14439.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 25 19 25 19 0 0 ./. 4 1 5 3 32 25 32 25 5 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767625374 X 85542987 A AT 780 PASS DACH2 CCDS48140.1 r.? - - Ins intronic I 85542987 85542994 1 56 695.112 - - 6 1 1 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 33 26 33 0 0 ./. 7 6 9 7 28 30 28 31 9 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767625410 X 85640578 GT G 480 PASS DACH2 CCDS48140.1 r.? - - Del intronic D 85640578 85640581 1 21 432.577 - - 2 1 1 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 21 20 21 0 0 ./. 6 2 9 3 25 11 25 11 9 3 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767629901 X 102799252 G GA 480 PASS - - - - - Ins - I 102799252 102799261 1 24 427.159 - - 8 1 1 - - ./. 0 0 0 0 22 18 22 18 0 0 ./. 5 3 9 7 25 32 25 32 9 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767631201 X 108904734 C CA 480 PASS ACSL4 CCDS14548.1 r.? - - Ins intronic I 108904734 108904741 1 25 426.557 - - 6 1 1 ACSL4|CCDS14548.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACSL4|CCDS14548.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 29 24 29 24 0 0 ./. 4 4 4 5 21 21 21 21 4 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767633764 X 118228583 CTG C 600 PASS KIAA1210 CCDS48156.1 r.? - - Del intronic D 118228583 118228589 2 32 540.722 - - 2 1 1 KIAA1210|CCDS48156.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1210|CCDS48156.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 7 3 7 7 26 18 26 18 7 7 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767635593 X 124218717 TA T 420 PASS - - - - - Del - D 124218717 124218720 1 20 378.505 - - 2 1 1 - - ./. 0 0 0 0 20 22 20 22 0 0 ./. 4 3 8 5 19 29 19 29 8 5 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767639587 X 140218812 T TA 300 PASS - - - - - Ins - I 140218812 140218822 1 10 266.147 - - 9 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 4 1 4 1 20 19 21 19 4 1 1 1 1 1 1 1 1 1 2816293 PD18777a PD18777b 2767641506 X 146752052 AG A 960 PASS - - - - - Del - D 146752052 146752059 1 80 863.349 - - 6 1 1 - - ./. 0 0 0 0 27 18 27 18 0 0 ./. 9 7 10 9 34 22 34 22 10 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771383598 1 5730575 TTTAAACACTTGATACG TTAAACACTTGACTCA 394 PASS ENSG00000236142 ENST00000427662 r.? - - Complex intronic DI 5730576 5730591 16 64 0 - - 0 1 1 ENSG00000236142|ENST00000427662|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ENSG00000236142|ENST00000427662|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 39 63 39 63 0 0 ./. 7 7 0 0 156 157 156 157 7 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771385801 1 10438136 TGAA T 629 PASS KIF1B CCDS111.1 r.? - - Del downstream D 10438136 10438142 3 42 589.959 - - 1 1 1 KIF1B|CCDS111.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 KIF1B|ENST00000353409|r.7195_7197delGAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 15 20 15 20 0 0 ./. 5 6 6 7 21 27 21 27 6 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771390800 1 21365373 A AT 720 PASS EIF4G3 CCDS214.1 r.? - - Ins intronic I 21365373 21365383 1 48 628.65 - - 9 1 1 EIF4G3|CCDS214.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 EIF4G3|CCDS214.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 16 25 16 0 0 ./. 7 5 9 5 30 27 31 27 9 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771395520 1 32811285 G GT 660 PASS - - - - - Ins - I 32811285 32811288 1 40 562.265 - - 2 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 7 8 8 24 16 24 17 8 8 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771401741 1 52108472 TGGGAAATGAGAGAGGGTTTTATTATCCTTCCAGAC T 261 PASS OSBPL9 CCDS44145.1 r.? - - Del intronic D 52108472 52108508 35 30 483.679 - - 1 1 1 OSBPL9|CCDS44145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OSBPL9|CCDS44145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 5 2 3 19 21 21 23 4 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771412601 1 84546443 ACAATCATTCCCTTTCAAAG A 290 PASS PRKACB CCDS691.1 r.? - - Del intronic D 84546443 84546463 19 35 536.819 - - 1 1 1 PRKACB|CCDS691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKACB|CCDS691.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 6 4 5 3 33 16 34 17 6 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771413569 1 87254357 AT A 480 PASS ENSG00000183291 ENST00000499679 r.? - - Del intronic D 87254357 87254366 1 21 429.937 - - 8 1 1 ENSG00000183291|ENST00000499679|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ENSG00000183291|ENST00000499679|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 2 10 4 23 27 23 27 10 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771414525 1 90288008 A AT 420 PASS LRRC8D CCDS726.1 r.? - - Ins intronic I 90288008 90288016 1 20 370.776 - - 7 1 1 LRRC8D|CCDS726.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LRRC8D|CCDS726.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 23 18 24 0 0 ./. 4 3 6 4 28 30 28 30 6 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771421403 1 109962270 CA C 329 PASS PSMA5 CCDS799.1 r.? - - Del intronic D 109962270 109962276 1 15 318.238 - - 5 1 1 PSMA5|CCDS799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSMA5|CCDS799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 4 6 5 18 24 18 24 6 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771427587 1 144837006 GTTAT G 303 PASS - - - - - Del - D 144837006 144837015 4 24 643.702 - - 2 1 1 - - ./. 0 0 0 0 17 28 17 28 0 0 ./. 1 11 1 16 35 85 35 85 1 16 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771431423 1 155104144 C CT 540 PASS EFNA1 CCDS1091.1 r.? - - Ins intronic I 155104144 155104151 1 28 477.057 - - 6 1 1 EFNA1|CCDS1091.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EFNA1|CCDS1091.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 24 14 24 0 0 ./. 6 3 9 5 23 28 23 28 9 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771433652 1 161497181 G GGAT 362 PASS HSPA7 CCDS1231.1 r.? - - Ins downstream I 161497181 161497186 3 11 516.951 - - 1 1 1 HSPA7|CCDS1231.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 HSPA7|CCDS1231.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 5 9 5 9 0 0 ./. 10 0 12 0 38 31 38 31 12 0 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771441686 1 184355710 CG C 389 PASS C1orf21 CCDS1362.1 r.? - - Del upstream D 184355710 184355714 1 20 372.583 - - 3 1 1 C1orf21|CCDS1362.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C1orf21|CCDS1362.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 4 3 4 16 22 16 22 3 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771442058 1 185798431 AT A 269 PASS HMCN1 CCDS30956.1 r.? - - Del intronic D 185798431 185798433 1 12 250.649 - - 1 1 1 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMCN1|CCDS30956.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 3 3 23 25 23 25 3 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771449804 1 208112946 GA G 300 PASS - - - - - Del - D 208112946 208112953 1 12 268.711 - - 6 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 2 3 5 6 29 24 29 24 5 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771463152 1 242960357 CT C 360 PASS - - - - - Del - D 242960357 242960361 1 16 316.432 - - 3 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 3 6 6 22 20 22 20 6 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771469252 10 8115896 C CA 360 PASS GATA3 CCDS31143.1 r.1813_1814insa c.1245_1246insA p.M416fs*92 Ins frameshift I 8115896 8115898 1 15 317.389 - - 1 1 1 GATA3|CCDS31143.1|r.1813_1814insa|c.1245_1246insA|p.M416fs*92|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 GATA3|CCDS31143.1|r.1813_1814insa|c.1245_1246insA|p.M416fs*92|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 24 14 24 14 0 0 ./. 4 2 6 3 22 18 23 18 6 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771469670 10 8971352 GAAATTAGAA G 319 PASS - - - - - Del - D 8971352 8971363 9 42 592.918 - - 1 1 1 - - ./. 0 0 0 0 15 27 15 27 0 0 ./. 5 6 5 7 17 17 17 17 5 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771485266 10 50592289 G GA 540 PASS DRGX CCDS44388.1 r.? - - Ins intronic I 50592289 50592296 1 18 479.696 - - 6 1 1 DRGX|CCDS44388.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DRGX|CCDS44388.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 25 29 25 0 0 ./. 8 1 10 5 25 22 25 22 10 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771490884 10 66509935 G GA 600 PASS - - - - - Ins - I 66509935 66509943 1 36 532.995 - - 7 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 5 5 7 5 28 17 28 17 7 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771498804 10 87458251 A AT 300 PASS GRID1 CCDS31236.1 r.? - - Ins intronic I 87458251 87458260 1 10 266.498 - - 8 1 1 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 15 22 15 0 0 ./. 4 1 7 4 33 28 33 28 7 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771499154 10 88597988 A AAAT 658 PASS BMPR1A CCDS7378.1 r.? - - Ins intronic I 88597988 88598007 3 45 624.543 - - 6 1 1 BMPR1A|CCDS7378.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BMPR1A|CCDS7378.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 8 4 10 7 27 26 27 26 10 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771504952 10 104528844 T TGATC 325 PASS C10orf26 CCDS44473.1 r.? - - Ins intronic I 104528844 104528849 4 25 410.141 - - 1 1 1 C10orf26|CCDS44473.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C10orf26|CCDS44473.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 4 4 4 4 19 23 19 24 4 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771510828 10 122057220 C CT 480 PASS - - - - - Ins - I 122057220 122057222 1 16 423.386 - - 1 1 1 - - ./. 0 0 0 0 13 20 13 21 0 0 ./. 1 7 1 9 15 24 15 24 1 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771516602 11 2565113 CTCCTT C 507 PASS KCNQ1 CCDS7736.1 r.? - - Del intronic D 2565113 2565120 5 27 539.978 - - 1 1 1 KCNQ1|CCDS7736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ1|CCDS7736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 19 5 19 0 0 ./. 2 8 3 8 16 21 16 21 3 8 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771528064 11 32804248 AATT A 540 PASS CCDC73 CCDS41630.1 r.? - - Del intronic D 32804248 32804255 3 30 485.98 - - 2 1 1 CCDC73|CCDS41630.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCDC73|CCDS41630.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 5 4 6 4 28 20 28 20 6 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771534513 11 49325679 C CA 360 PASS - - - - - Ins - I 49325679 49325685 1 12 320.375 - - 5 1 1 - - ./. 0 0 0 0 11 20 11 20 0 0 ./. 1 5 3 6 17 28 17 28 3 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771535558 11 56517690 AT A 420 PASS - - - - - Del - D 56517690 56517692 1 20 373.77 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 3 9 4 22 14 22 14 9 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771536393 11 59181445 T TA 660 PASS - - - - - Ins - I 59181445 59181454 1 42 580.129 - - 8 1 1 - - ./. 0 0 0 0 14 24 14 24 0 0 ./. 5 6 7 6 24 28 24 28 7 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771570387 12 15404319 CTT C 600 PASS - - - - - Del - D 15404319 15404324 2 35 539.996 - - 4 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 6 4 6 5 22 25 22 25 6 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771585929 12 59054093 G GC 360 PASS - - - - - Ins - I 59054093 59054101 1 15 319.181 - - 7 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 4 2 6 3 19 22 19 22 6 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771608506 12 120975323 C CG 300 PASS RNF10 CCDS9201.1 r.? - - Ins intronic I 120975323 120975330 1 12 265.784 - - 6 1 1 RNF10|CCDS9201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF10|CCDS9201.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 3 7 18 27 18 27 3 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771613149 12 131680358 AG A 581 PASS ENSG00000204603 ENST00000376678 r.? - - Del intronic D 131680358 131680363 1 40 592.792 - - 4 1 1 ENSG00000204603|ENST00000376678|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000204603|ENST00000376678|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 7 4 9 4 33 13 33 13 9 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771618378 13 28371007 AC A 660 PASS GSX1 CCDS9326.1 r.? - - Del downstream D 28371007 28371009 1 42 593.849 - - 1 1 1 GSX1|CCDS9326.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 GSX1|CCDS9326.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 16 17 16 0 0 ./. 5 6 5 6 24 22 24 22 5 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771622929 13 40745586 T TA 360 PASS - - - - - Ins - I 40745586 40745595 1 15 321.291 - - 8 1 1 - - ./. 0 0 0 0 29 31 29 31 0 0 ./. 2 4 4 6 27 26 28 26 4 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771626045 13 49833996 A AC 300 PASS CDADC1 CCDS9415.1 r.? - - Ins intronic I 49833996 49833998 1 12 265.334 - - 1 1 1 CDADC1|CCDS9415.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDADC1|CCDS9415.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 26 10 26 0 0 ./. 2 3 3 3 22 34 22 34 3 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771640929 13 95396428 T TA 540 PASS - - - - - Ins - I 95396428 95396430 1 30 481.936 - - 1 1 1 - - ./. 0 0 0 0 12 23 12 23 0 0 ./. 5 4 6 6 28 28 28 28 6 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771644536 13 104748998 G GA 480 PASS - - - - - Ins - I 104748998 104749007 1 24 427.183 - - 8 1 1 - - ./. 0 0 0 0 21 24 21 25 0 0 ./. 3 5 4 6 20 28 20 28 4 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771645147 13 106331907 TA T 420 PASS - - - - - Del - D 106331907 106331910 1 20 379.054 - - 2 1 1 - - ./. 0 0 0 0 11 23 11 23 0 0 ./. 3 4 5 6 20 25 20 25 5 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771647395 13 112215657 TCCCTC T 269 PASS - - - - - Del - D 112215657 112215674 5 6 268.946 - - 3 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 0 5 1 0 21 20 21 25 1 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771654146 14 34165425 AC A 720 PASS NPAS3 CCDS9645.1 r.? - - Del intronic D 34165425 34165428 1 48 649.759 - - 2 1 1 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 15 22 15 0 0 ./. 7 5 9 6 26 21 26 21 9 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771659654 14 49798418 G GA 840 PASS - - - - - Ins - I 49798418 49798427 1 55 750.326 - - 8 1 1 - - ./. 0 0 0 0 23 18 23 18 0 0 ./. 10 4 11 6 22 26 22 26 11 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771660329 14 50984347 AT A 480 PASS MAP4K5 ENST00000013125 r.? - - Del intronic D 50984347 50984349 1 21 422.135 - - 1 1 1 MAP4K5|ENST00000013125|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP4K5|ENST00000013125|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 2 10 5 24 19 24 19 10 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771666631 14 70006992 CACAA C 687 PASS - - - - - Del - D 70006992 70007001 4 50 704.558 - - 2 1 1 - - ./. 0 0 0 0 23 21 23 21 0 0 ./. 9 4 11 5 37 19 37 19 11 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771677085 14 99444133 C CA 480 PASS - - - - - Ins - I 99444133 99444141 1 24 427.554 - - 7 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 5 3 5 5 22 21 22 22 5 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771687246 15 38288132 CT C 540 PASS - - - - - Del - D 38288132 38288135 1 28 487.828 - - 2 1 1 - - ./. 0 0 0 0 23 25 23 25 0 0 ./. 6 3 6 6 18 24 18 24 6 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771702940 15 79412372 CACTT C 449 PASS - - - - - Del - D 79412372 79412380 4 24 433.023 - - 1 1 1 - - ./. 0 0 0 0 22 19 22 19 0 0 ./. 5 3 6 4 20 29 20 29 6 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771709165 15 96922579 G GT 300 PASS - - - - - Ins - I 96922579 96922589 1 12 268.005 - - 9 1 1 - - ./. 0 0 0 0 20 22 20 22 0 0 ./. 2 3 5 6 28 20 28 20 5 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771709515 15 97820060 A AT 300 PASS - - - - - Ins - I 97820060 97820070 1 12 268.005 - - 9 1 1 - - ./. 0 0 0 0 12 15 13 15 0 0 ./. 3 2 3 2 34 24 34 24 3 2 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771710170 15 99271169 TC T 360 PASS IGF1R CCDS10378.1 r.? - - Del intronic D 99271169 99271174 1 15 325.219 - - 4 1 1 IGF1R|CCDS10378.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGF1R|CCDS10378.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 2 4 3 6 12 32 12 32 3 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771710433 15 99890927 TC T 660 PASS LRRC28 CCDS10380.1 r.? - - Del intronic D 99890927 99890930 1 36 596.235 - - 2 1 1 LRRC28|CCDS10380.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRC28|CCDS10380.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 28 13 28 0 0 ./. 8 3 10 4 23 24 23 24 10 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771710965 15 101394123 GC G 360 PASS AC015712.1 ENST00000431060 r.? - - Del intronic D 101394123 101394129 1 15 325.219 - - 5 1 1 AC015712.1|ENST00000431060|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC015712.1|ENST00000431060|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 4 4 5 19 25 19 25 4 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771714350 16 7108573 TTG T 269 PASS - - - - - Del - D 7108573 7108592 2 6 266.464 - - 9 1 - - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 0 5 0 5 16 23 16 23 0 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771717221 16 13461509 GC G 420 PASS - - - - - Del - D 13461509 13461511 1 18 377.144 - - 1 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 2 5 4 5 9 19 9 19 4 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771719135 16 18989036 GA G 300 PASS - - - - - Del - D 18989036 18989043 1 12 270.679 - - 6 1 1 - - ./. 0 0 0 0 27 17 27 17 0 0 ./. 3 2 3 3 26 30 26 30 3 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771723671 16 30666120 TC T 269 PASS PRR14 CCDS10687.1 r.1088delC c.830delC p.P279fs*2 Del frameshift D 30666120 30666128 1 12 267.066 - - 7 1 1 PRR14|CCDS10687.1|r.1088delC|c.830delC|p.P279fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PRR14|CCDS10687.1|r.1088delC|c.830delC|p.P279fs*2|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 19 11 19 0 0 ./. 2 3 4 6 23 22 23 22 4 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771737498 16 74098589 T TA 660 PASS - - - - - Ins - I 74098589 74098597 1 40 588.871 - - 7 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 7 4 10 6 26 19 26 20 10 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771737744 16 74612907 GAAC G 809 PASS GLG1 CCDS45527.1 r.? - - Del intronic D 74612907 74612916 3 63 757.9 - - 2 1 1 GLG1|CCDS45527.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLG1|CCDS45527.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 6 8 7 8 30 28 30 28 7 8 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771738591 16 76705689 T TA 600 PASS - - - - - Ins - I 76705689 76705697 1 36 534.133 - - 7 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 5 10 6 31 27 31 28 10 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771741990 16 85674505 CCGG C 418 PASS KIAA0182 CCDS10952.1 r.? - - Del intronic D 85674505 85674509 3 24 431.28 - - 1 1 1 KIAA0182|CCDS10952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0182|CCDS10952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 3 5 4 19 24 19 24 5 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771746683 17 5875350 AGCAGCAGTG A 261 PASS - - - - - Del - D 5875350 5875364 9 30 486.956 - - 1 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 4 5 4 6 18 27 18 27 4 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771749483 17 11899927 G GA 300 PASS ZNF18 CCDS32568.1 r.? - - Ins intronic I 11899927 11899937 1 10 267.521 - - 9 1 1 ZNF18|CCDS32568.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF18|CCDS32568.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 13 26 13 0 0 ./. 1 4 1 4 24 24 24 24 1 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771758290 17 33729924 AGAAG A 507 PASS - - - - - Del - D 33729924 33729932 4 32 541.062 - - 1 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 7 3 8 4 25 13 25 13 8 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771758638 17 34655492 A AT 407 PASS TBC1D3C ENST00000308078 r.? - - Ins intronic I 34655492 34655502 1 12 588.546 - - 9 1 1 TBC1D3C|ENST00000308078|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TBC1D3C|ENST00000308078|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 0 10 0 0 0 ./. 11 0 13 0 50 0 50 0 13 0 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771762032 17 41210421 C CA 598 PASS BRCA1 CCDS11453.1 r.? - - Ins intronic I 41210421 41210430 1 42 568.076 - - 8 1 1 BRCA1|CCDS11453.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BRCA1|CCDS11453.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 33 25 33 0 0 ./. 5 6 7 9 22 33 22 33 7 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771764997 17 47781430 T TA 509 PASS SLC35B1 CCDS11552.1 r.? - - Ins intronic I 47781430 47781432 1 10 481.537 - - 1 1 1 SLC35B1|CCDS11552.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC35B1|ENST00000435059|r.773_774insu|c.686_687insT|p.S230fs*>45|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 22 15 22 15 0 0 ./. 0 9 0 9 20 30 20 30 0 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771769928 17 59749614 GT G 418 PASS - - - - - Del - D 59749614 59749620 1 24 432.85 - - 5 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 3 5 5 6 16 11 16 11 5 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771774050 17 68778288 G GT 720 PASS - - - - - Ins - I 68778288 68778296 1 48 636.029 - - 7 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 7 5 9 8 26 28 26 28 9 8 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771776795 17 74381052 GC G 540 PASS SPHK1 CCDS11744.1 r.364delC c.? p.? Del 5'UTR variant D 74381052 74381055 1 30 485.752 - - 2 1 1 SPHK1|CCDS11744.1|r.364delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 SPHK1|CCDS11744.1|r.364delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 25 23 25 23 0 0 ./. 4 5 6 6 26 22 26 22 6 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771784270 18 9866730 GTGGAGAGCTGGGACTGGATCCCTTT G 261 PASS RAB31 CCDS45826.1 r.? - - Del downstream D 9866730 9866768 25 24 486.105 - - 1 1 1 RAB31|CCDS45826.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RAB31|CCDS45826.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 21 11 21 0 0 ./. 2 7 2 7 18 32 18 32 2 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771786395 18 15087486 CA C 357 PASS - - - - - Del - D 15087486 15087495 1 15 323.468 - - 8 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 2 4 5 23 19 23 19 4 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771787587 18 20406933 CCTTGAATTA C 261 PASS - - - - - Del - D 20406933 20406947 9 18 487.911 - - 1 1 1 - - ./. 0 0 0 0 16 22 16 22 0 0 ./. 8 1 0 0 23 20 23 20 8 1 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771794267 18 42289645 C CA 598 PASS SETBP1 CCDS11923.2 r.? - - Ins intronic I 42289645 42289647 1 36 589.713 - - 1 1 1 SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 8 3 8 3 30 15 30 15 8 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771801816 18 63929962 A AT 300 PASS - - - - - Ins - I 63929962 63929972 1 10 268.052 - - 9 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 1 4 1 4 20 31 21 31 1 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771804421 18 70288736 AC A 420 PASS - - - - - Del - D 70288736 70288739 1 18 379.487 - - 2 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 2 5 3 7 24 27 24 27 3 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771818755 19 23514945 TTC T 360 PASS ENSG00000235694 ENST00000439808 r.? - - Del intronic D 23514945 23514949 2 12 325.314 - - 1 1 1 ENSG00000235694|ENST00000439808|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000235694|ENST00000439808|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 19 9 19 0 0 ./. 1 5 2 7 22 30 22 30 2 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771833925 2 416150 T TG 300 PASS - - - - - Ins - I 416150 416157 1 12 263.344 - - 6 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 2 3 2 4 18 23 18 24 2 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771836912 2 9755632 ATGAG A 778 PASS YWHAQ CCDS1666.1 r.? - - Del intronic D 9755632 9755641 4 63 742.901 - - 2 1 1 YWHAQ|CCDS1666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 YWHAQ|CCDS1666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 23 23 23 0 0 ./. 8 6 9 6 21 19 21 19 9 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771837946 2 11845904 C CT 540 PASS - - - - - Ins - I 11845904 11845912 1 30 478.354 - - 7 1 1 - - ./. 0 0 0 0 20 25 20 25 0 0 ./. 5 4 5 9 26 30 27 30 5 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771847005 2 35733199 TA T 600 PASS - - - - - Del - D 35733199 35733204 1 35 535.718 - - 4 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 4 6 6 6 16 25 16 25 6 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771854251 2 56413225 CCCAGTTCAG C 319 PASS CCDC85A CCDS46290.1 r.? - - Del intronic D 56413225 56413235 9 42 586.461 - - 1 1 1 CCDC85A|CCDS46290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC85A|CCDS46290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 22 19 22 0 0 ./. 6 5 7 6 17 19 17 19 7 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771864332 2 85241425 TC T 960 PASS KCMF1 CCDS46350.1 r.? - - Del intronic D 85241425 85241428 1 80 859.437 - - 2 1 1 KCMF1|CCDS46350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCMF1|CCDS46350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 7 9 8 10 30 25 30 25 8 10 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771888252 2 159158601 T TG 540 PASS CCDC148 CCDS33304.1 r.? - - Ins intronic I 159158601 159158609 1 18 472.935 - - 7 1 1 CCDC148|CCDS33304.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC148|CCDS33304.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 15 23 15 0 0 ./. 8 1 9 3 28 17 28 17 9 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771891086 2 168209962 C CT 300 PASS - - - - - Ins - I 168209962 168209972 1 12 263.946 - - 9 1 1 - - ./. 0 0 0 0 13 19 13 20 0 0 ./. 2 3 2 3 36 28 36 28 2 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771898417 2 189404122 C CA 540 PASS GULP1 CCDS2295.1 r.? - - Ins intronic I 189404122 189404132 1 28 476.547 - - 9 1 1 GULP1|CCDS2295.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GULP1|CCDS2295.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 9 21 9 0 0 ./. 6 3 9 6 30 34 30 34 9 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771905401 2 208785380 T TA 300 PASS PLEKHM3 CCDS42808.1 r.? - - Ins intronic I 208785380 208785381 1 10 262.742 - - 0 1 1 PLEKHM3|CCDS42808.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLEKHM3|CCDS42808.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 10 0 0 ./. 1 4 3 4 27 23 27 23 3 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771907362 2 214410415 CT C 540 PASS SPAG16 CCDS2396.1 r.? - - Del intronic D 214410415 214410419 1 30 483.772 - - 3 1 1 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 26 17 26 0 0 ./. 4 5 4 7 25 24 25 24 4 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771920259 20 4754475 CATTTGGGTT C 261 PASS - - - - - Del - D 4754475 4754489 9 30 488.232 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 5 6 8 19 27 19 27 6 8 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771924004 20 14959029 CA C 300 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 14959029 14959031 1 10 267.962 - - 1 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 1 6 1 14 22 14 22 6 1 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771924011 20 14988308 CTT C 389 PASS MACROD2 CCDS13120.2 r.? - - Del intronic D 14988308 14988313 2 14 380.204 - - 4 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 1 6 2 7 28 16 28 16 2 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771933550 20 42078308 G GA 360 PASS - - - - - Ins - I 42078308 42078315 1 15 322.277 - - 6 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 2 4 6 7 20 35 20 35 6 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771938427 20 53750041 AAC A 300 PASS - - - - - Del - D 53750041 53750057 2 10 267.36 - - 7 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 1 4 1 4 22 22 22 22 1 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771940360 20 59735094 G GA 600 PASS - - - - - Ins - I 59735094 59735095 1 35 537.128 - - 0 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 6 4 9 4 19 20 19 20 9 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771978379 3 9975442 TG T 509 PASS CRELD1 CCDS2593.1 r.? - - Del upstream D 9975442 9975445 1 28 482.895 - - 2 1 1 CRELD1|CCDS2593.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CRELD1|CCDS2593.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 18 27 18 27 0 0 ./. 3 6 5 9 24 24 24 24 5 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771979192 3 11765475 TG T 449 PASS VGLL4 CCDS2606.1 r.? - - Del upstream D 11765475 11765485 1 9 430.845 - - 9 1 1 VGLL4|CCDS2606.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 VGLL4|CCDS2606.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 21 7 21 0 0 ./. 0 8 0 13 4 34 4 34 0 13 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2771987009 3 33698487 TCTC T 716 PASS CLASP2 ENST00000307312 r.? - - Del intronic D 33698487 33698494 3 64 752.776 - - 2 1 1 CLASP2|ENST00000307312|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLASP2|ENST00000307312|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 7 7 7 9 24 21 24 21 7 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772006177 3 86261570 CG C 360 PASS - - - - - Del - D 86261570 86261572 1 15 323.134 - - 1 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 4 2 6 3 17 25 17 25 6 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772006463 3 87251605 AT A 480 PASS - - - - - Del - D 87251605 87251607 1 24 430.846 - - 1 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 3 5 5 6 18 28 18 28 5 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772007518 3 93650391 T TA 540 PASS PROS1 CCDS2923.1 r.? - - Ins intronic I 93650391 93650399 1 30 478.079 - - 7 1 1 PROS1|CCDS2923.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PROS1|CCDS2923.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 19 16 20 0 0 ./. 4 5 5 5 30 27 30 27 5 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772011775 3 105875234 AC A 600 PASS - - - - - Del - D 105875234 105875236 1 35 537.353 - - 1 1 1 - - ./. 0 0 0 0 24 13 24 13 0 0 ./. 6 4 6 7 21 32 21 32 6 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772016276 3 118694678 CA C 780 PASS IGSF11 CCDS2983.1 r.? - - Del intronic D 118694678 118694684 1 50 699.522 - - 5 1 1 IGSF11|CCDS2983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IGSF11|CCDS2983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 4 9 6 12 24 20 24 20 6 12 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772016671 3 119794286 GA G 480 PASS GSK3B CCDS2996.1 r.? - - Del intronic D 119794286 119794291 1 21 430.845 - - 4 1 1 GSK3B|CCDS2996.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GSK3B|CCDS2996.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 24 18 24 0 0 ./. 6 2 6 7 20 28 20 28 6 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772027000 3 149278431 A AT 420 PASS WWTR1 CCDS3144.1 r.? - - Ins intronic I 149278431 149278441 1 20 372.775 - - 9 1 1 WWTR1|CCDS3144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WWTR1|CCDS3144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 3 5 6 22 26 23 27 5 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772030837 3 160155166 TTACTC T 627 PASS TRIM59 CCDS3190.1 r.1987_1991delGAGUA c.? p.? Del 3'UTR variant D 160155166 160155174 5 45 644.462 - - 1 1 1 TRIM59|CCDS3190.1|r.1987_1991delGAGUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 TRIM59|CCDS3190.1|r.1987_1991delGAGUA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 19 16 19 16 0 0 ./. 4 8 4 9 24 29 24 29 4 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772038686 3 183850044 GAAAAGA G 377 PASS EIF2B5 CCDS3252.1 r.? - - Del upstream D 183850044 183850057 6 54 699.522 - - 2 1 1 EIF2B5|CCDS3252.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 EIF2B5|CCDS3252.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 18 11 18 11 0 0 ./. 8 5 8 6 28 25 28 26 8 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772067661 4 63062331 TG T 300 PASS - - - - - Del - D 63062331 63062333 1 10 269.228 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 4 1 4 21 30 21 30 1 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772073369 4 79358258 G GA 360 PASS FRAS1 ENST00000264895 r.? - - Ins intronic I 79358258 79358265 1 16 319.461 - - 6 1 1 FRAS1|ENST00000264895|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FRAS1|ENST00000264895|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 14 12 14 0 0 ./. 3 3 5 3 26 26 26 26 5 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772076776 4 90079044 CT C 600 PASS - - - - - Del - D 90079044 90079046 1 36 538.456 - - 1 1 1 - - ./. 0 0 0 0 16 3 16 3 0 0 ./. 5 5 6 7 13 18 13 18 6 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772091783 4 137456678 AT A 540 PASS - - - - - Del - D 137456678 137456681 1 28 484.61 - - 2 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 6 5 8 22 23 22 23 5 8 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772095832 4 149366806 TGGGCCCGGCAGGCGGGC T 377 PASS NR3C2 CCDS3772.1 r.? - - Del upstream D 149366806 149366826 17 56 698.186 - - 1 1 1 NR3C2|CCDS3772.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 NR3C2|CCDS3772.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 24 20 24 20 0 0 ./. 6 7 8 7 22 37 22 37 8 8 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772128899 5 41374506 CA C 360 PASS PLCXD3 CCDS34150.1 r.? - - Del intronic D 41374506 41374512 1 16 323.43 - - 5 1 1 PLCXD3|CCDS34150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCXD3|CCDS34150.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 3 4 3 20 24 20 24 4 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772136693 5 66827552 T TA 480 PASS - - - - - Ins - I 66827552 66827561 1 24 426.423 - - 8 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 5 4 7 20 24 20 25 4 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772142232 5 82832972 T TA 360 PASS VCAN CCDS4060.1 r.4715_4716insa c.4150_4151insA p.Y1384fs*1 Ins frameshift I 82832972 82832974 1 15 319.817 - - 1 1 1 VCAN|CCDS4060.1|r.4715_4716insa|c.4150_4151insA|p.Y1384fs*1|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 VCAN|CCDS4060.1|r.4715_4716insa|c.4150_4151insA|p.Y1384fs*1|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 19 15 19 15 0 0 ./. 4 2 5 3 16 26 16 26 5 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772146929 5 98039506 CAA C 420 PASS - - - - - Del - D 98039506 98039509 2 14 377.335 - - 2 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 6 1 9 3 26 18 26 18 9 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772147341 5 99114697 CAT C 420 PASS - - - - - Del - D 99114697 99114700 2 20 377.335 - - 1 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 4 3 6 4 17 28 17 28 6 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772151046 5 109787008 AC A 720 PASS TMEM232 CCDS33841.1 r.? - - Del intronic D 109787008 109787011 1 40 646.258 - - 2 1 1 TMEM232|CCDS33841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM232|CCDS33841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 9 3 10 4 21 20 21 20 10 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772155647 5 123127025 C CT 600 PASS - - - - - Ins - I 123127025 123127035 1 35 533.029 - - 9 1 1 - - ./. 0 0 0 0 12 20 13 20 0 0 ./. 4 6 5 9 22 27 22 27 5 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772158012 5 130144798 CAAG C 420 PASS - - - - - Del - D 130144798 130144806 3 20 377.335 - - 2 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 4 3 4 14 21 14 21 3 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772169651 5 163541045 G GA 480 PASS - - - - - Ins - I 163541045 163541054 1 24 426.423 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 15 0 0 ./. 3 5 4 7 23 15 23 15 4 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772171015 5 167208393 G GA 449 PASS - - - - - Ins - I 167208393 167208400 1 24 426.423 - - 6 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 5 6 5 25 23 25 23 6 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772184309 6 19181933 TAAAC T 389 PASS ENSG00000196333 ENST00000358740 r.? - - Del intronic D 19181933 19181941 4 20 377.356 - - 1 1 1 ENSG00000196333|ENST00000358740|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ENSG00000196333|ENST00000358740|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 4 3 6 4 22 25 22 25 6 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772186725 6 25240561 A AC 300 PASS - - - - - Ins - I 25240561 25240563 1 10 266.53 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 1 5 3 17 17 17 17 5 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772188700 6 30506421 C CT 449 PASS GNL1 CCDS4680.1 r.? - - Ins downstream I 30506421 30506431 1 25 424.039 - - 9 1 1 GNL1|CCDS4680.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 GNL1|CCDS4680.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 23 15 23 15 0 0 ./. 4 4 5 5 29 21 29 21 5 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772197528 6 51637804 G GA 540 PASS PKHD1 CCDS4935.1 r.? - - Ins intronic I 51637804 51637811 1 28 479.152 - - 6 1 1 PKHD1|CCDS4935.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PKHD1|CCDS4935.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 6 7 7 37 22 39 23 7 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772207410 6 80379902 GT G 780 PASS SH3BGRL2 CCDS4991.1 r.? - - Del intronic D 80379902 80379910 1 56 698.396 - - 7 1 1 SH3BGRL2|CCDS4991.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3BGRL2|CCDS4991.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 7 6 11 7 37 25 37 25 11 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772212962 6 96742863 CA C 420 PASS - - - - - Del - D 96742863 96742865 1 20 377.356 - - 1 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 4 3 5 4 17 23 17 23 5 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772215383 6 104700947 G GT 300 PASS - - - - - Ins - I 104700947 104700949 1 10 265.326 - - 1 1 1 - - ./. 0 0 0 0 21 20 21 20 0 0 ./. 4 1 4 3 18 21 18 21 4 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772225799 6 136882867 ATACT A 360 PASS MAP3K5 CCDS5179.1 r.? - - Del intronic D 136882867 136882873 4 15 323.448 - - 1 1 1 MAP3K5|CCDS5179.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP3K5|CCDS5179.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 2 8 4 28 25 28 25 8 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772232336 6 157509959 CAG C 960 PASS ARID1B CCDS5251.1 r.? - - Del intronic D 157509959 157509964 2 81 855.304 - - 2 1 1 ARID1B|CCDS5251.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARID1B|CCDS5251.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 8 8 9 8 24 31 24 31 9 8 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772233460 6 160614014 G GA 420 PASS - - - - - Ins - I 160614014 160614023 1 20 371.938 - - 8 1 1 - - ./. 0 0 0 0 17 16 18 16 0 0 ./. 4 3 5 5 20 25 20 25 5 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772241212 7 9939288 GA G 360 PASS - - - - - Del - D 9939288 9939293 1 15 323.546 - - 4 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 2 4 2 6 17 19 17 19 2 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772241335 7 10264715 C CA 480 PASS - - - - - Ins - I 10264715 10264723 1 24 426.578 - - 7 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 3 5 5 7 27 22 28 22 5 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772267530 7 78606729 CAG C 300 PASS MAGI2 CCDS5594.1 r.? - - Del intronic D 78606729 78606749 2 12 269.621 - - 9 1 - MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 20 11 0 0 ./. 2 3 2 2 25 23 27 24 2 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772273334 7 97060895 T TA 300 PASS - - - - - Ins - I 97060895 97060903 1 10 263.601 - - 7 1 1 - - ./. 0 0 0 0 8 16 9 16 0 0 ./. 1 4 4 5 18 29 18 29 4 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772278574 7 109929725 ACT A 300 PASS - - - - - Del - D 109929725 109929730 2 10 269.621 - - 2 1 1 - - ./. 0 0 0 0 26 22 26 22 0 0 ./. 4 1 6 3 31 15 31 15 6 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772281079 7 118941538 CT C 480 PASS - - - - - Del - D 118941538 118941541 1 24 430.792 - - 2 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 3 6 6 19 26 19 26 6 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772307048 8 29190429 AAAAAG A 360 PASS DUSP4 CCDS6072.1 r.? - - Del downstream D 29190429 29190447 5 16 323.956 - - 3 1 1 DUSP4|CCDS6072.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 DUSP4|CCDS6072.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 36 27 36 27 0 0 ./. 3 3 6 6 35 23 35 23 6 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772310191 8 38201461 CTGTT C 600 PASS WHSC1L1 CCDS43729.1 r.? - - Del intronic D 38201461 38201468 4 36 539.926 - - 1 1 1 WHSC1L1|CCDS43729.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WHSC1L1|CCDS43729.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 5 5 6 5 16 21 16 21 6 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772312069 8 43660954 CTCTTTGAAGTGTGGA C 377 PASS - - - - - Del - D 43660954 43660971 15 50 701.904 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 9 4 9 4 25 21 25 21 9 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772313072 8 50356439 GAA G 660 PASS - - - - - Del - D 50356439 50356442 2 40 593.919 - - 2 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 7 4 9 4 38 20 38 20 9 4 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772313954 8 53204944 T TGC 600 PASS ST18 CCDS6149.1 r.? - - Ins intronic I 53204944 53204946 2 36 527.885 - - 0 1 - ST18|CCDS6149.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ST18|CCDS6149.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 14 24 14 0 0 ./. 5 5 5 5 27 22 27 22 5 5 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772319787 8 71373942 C CT 540 PASS - - - - - Ins - I 71373942 71373951 1 30 476.903 - - 8 1 1 - - ./. 0 0 0 0 15 24 15 24 0 0 ./. 5 4 5 9 16 32 16 32 5 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772331757 8 106606026 C CA 360 PASS ZFPM2 CCDS47908.1 r.? - - Ins intronic I 106606026 106606035 1 15 319.139 - - 8 1 1 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 2 4 4 9 16 40 16 40 4 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772338622 8 125471222 CT C 629 PASS AC090192.2 ENST00000499418 r.? - - Del downstream D 125471222 125471224 1 30 593.919 - - 1 1 1 AC090192.2|ENST00000499418|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 AC090192.2|ENST00000499418|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 12 20 12 20 0 0 ./. 2 9 4 9 24 30 24 30 4 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772340702 8 131221735 ATAAATCAAGGCACTGCTACAAACTAAAGT A 319 PASS ASAP1 CCDS6362.1 r.? - - Del intronic D 131221735 131221767 29 40 593.919 - - 1 1 1 ASAP1|CCDS6362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASAP1|CCDS6362.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 14 16 14 0 0 ./. 4 7 4 4 20 28 20 31 4 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772350531 9 13506785 CATT C 627 PASS - - - - - Del - D 13506785 13506791 3 40 646.994 - - 1 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 3 9 4 9 19 26 19 26 4 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772363764 9 73779265 C CT 300 PASS TRPM3 ENST00000357533 r.? - - Ins intronic I 73779265 73779272 1 12 262.506 - - 6 1 1 TRPM3|ENST00000357533|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRPM3|ENST00000357533|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 29 13 30 13 0 0 ./. 3 2 5 6 27 27 27 27 5 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772369463 9 91229760 AT A 480 PASS - - - - - Del - D 91229760 91229768 1 21 421.696 - - 7 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 2 6 3 9 21 26 21 26 3 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772370556 9 95182957 GA G 420 PASS CENPP CCDS35063.1 r.? - - Del intronic D 95182957 95182959 1 18 377.262 - - 1 1 1 CENPP|CCDS35063.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CENPP|CCDS35063.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 5 4 9 27 27 27 27 4 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772374137 9 106495255 CTTA C 418 PASS - - - - - Del - D 106495255 106495262 3 24 432.533 - - 2 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 5 3 6 16 17 16 17 3 6 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772379222 9 119814198 G GA 300 PASS ASTN2 CCDS48009.1 r.? - - Ins intronic I 119814198 119814205 1 12 267.323 - - 6 1 1 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 3 2 3 3 23 29 23 29 3 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772395562 X 55549816 C CATATATGTATATATATGTATATATATACACATATGTGTGTGTACACATAT 360 PASS - - - - - Ins - I 55549816 55549823 50 16 145.518 - - 0 1 - - - ./. 0 0 0 0 5 14 6 14 0 0 ./. 3 3 0 0 19 15 19 15 3 3 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772396593 X 65946329 G GT 480 PASS - - - - - Ins - I 65946329 65946339 1 21 421 - - 9 1 - - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 6 3 9 12 14 12 14 3 9 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772399155 X 82142083 C CT 540 PASS - - - - - Ins - I 82142083 82142093 1 28 472.948 - - 9 1 1 - - ./. 0 0 0 0 4 10 5 10 0 0 ./. 6 3 8 7 12 14 12 14 8 7 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772399810 X 85857782 C CT 600 PASS DACH2 CCDS48140.1 r.? - - Ins intronic I 85857782 85857788 1 32 537.539 - - 5 1 1 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DACH2|CCDS48140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 7 4 8 18 16 18 16 4 8 1 1 1 1 1 1 1 1 2819255 PD20342a PD20342b 2772404617 X 113185154 GT G 420 PASS - - - - - Del - D 113185154 113185158 1 14 379.89 - - 3 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 1 6 3 8 4 12 4 12 3 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782574396 1 16979401 T TAA 277 PASS AL355149.1 ENST00000515775 r.? - - Ins intronic I 16979401 16979409 2 10 472.524 - - 7 1 1 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 30 28 31 0 0 ./. 9 0 15 0 69 46 70 46 15 0 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782583050 1 38963265 GCT G 300 PASS - - - - - Del - D 38963265 38963284 2 12 266.126 - - 9 1 1 - - ./. 0 0 0 0 24 24 24 24 0 0 ./. 3 2 3 3 26 22 26 22 3 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782611081 1 121362229 AC A 513 PASS - - - - - Del - D 121362229 121362231 1 18 912.414 - - 1 1 1 - - ./. 0 0 0 0 16 51 16 51 0 0 ./. 17 0 24 0 183 52 183 52 24 0 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782611673 1 142595436 TA T 297 PASS - - - - - Del - D 142595436 142595441 1 15 322.241 - - 4 1 1 - - ./. 0 0 0 0 46 48 46 48 0 0 ./. 2 4 3 7 82 108 82 108 3 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782633336 1 195860376 AG A 300 PASS - - - - - Del - D 195860376 195860379 1 12 255.891 - - 2 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 2 3 2 25 30 25 30 3 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782635754 1 202349727 AC A 480 PASS PPP1R12B CCDS30973.1 r.? - - Del intronic D 202349727 202349736 1 21 429.655 - - 8 1 1 PPP1R12B|CCDS30973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R12B|CCDS30973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 13 27 13 0 0 ./. 6 2 6 3 31 24 31 24 6 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782642402 1 220225020 T TC 540 PASS - - - - - Ins - I 220225020 220225029 1 30 477.943 - - 8 1 1 - - ./. 0 0 0 0 15 11 16 11 0 0 ./. 5 4 8 6 32 31 32 31 8 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782646441 1 230524691 G GC 1020 PASS PGBD5 ENST00000391860 r.? - - Ins intronic I 230524691 230524695 1 84 900.975 - - 3 1 1 PGBD5|ENST00000391860|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PGBD5|ENST00000391860|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 15 23 16 0 0 ./. 11 6 18 11 40 25 41 25 18 11 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782651310 1 242140682 G GT 420 PASS - - - - - Ins - I 242140682 242140691 1 20 367.519 - - 8 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 4 3 6 6 35 23 35 23 6 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782654289 1 248735798 CCATTT C 512 PASS OR2T34 CCDS31120.1 r.? - - Del downstream D 248735798 248735804 5 17 859.31 - - 1 1 1 OR2T34|CCDS31120.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OR2T34|CCDS31120.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 0 10 0 0 0 ./. 16 0 17 0 27 0 27 0 17 0 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782661285 10 16999676 C CA 420 PASS CUBN CCDS7113.1 r.? - - Ins intronic I 16999676 16999683 1 20 373.099 - - 6 1 1 CUBN|CCDS7113.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CUBN|CCDS7113.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 22 14 24 0 0 ./. 3 4 4 4 29 20 30 20 4 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782667490 10 34108118 T TA 480 PASS - - - - - Ins - I 34108118 34108127 1 21 424.593 - - 8 1 1 - - ./. 0 0 0 0 23 13 23 13 0 0 ./. 2 6 4 6 23 23 23 23 4 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782668739 10 37538233 CTG C 300 PASS - - - - - Del - D 37538233 37538238 2 10 269.51 - - 2 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 1 6 1 23 22 23 22 6 1 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782676675 10 62243347 TG T 960 PASS ANK3 ENST00000373827 r.? - - Del intronic D 62243347 62243349 1 81 861.829 - - 1 1 1 ANK3|ENST00000373827|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANK3|ENST00000373827|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 21 11 21 0 0 ./. 8 8 16 12 30 21 30 21 16 12 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782693002 10 110860617 AAG A 300 PASS - - - - - Del - D 110860617 110860635 2 12 268.908 - - 8 1 - - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 3 2 3 3 26 33 26 33 3 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782707907 11 17805127 TA T 540 PASS KCNC1 CCDS44547.1 r.? - - Del downstream D 17805127 17805129 1 30 483.516 - - 1 1 1 KCNC1|CCDS44547.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KCNC1|CCDS44547.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 4 8 6 32 23 32 23 8 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782710260 11 24050807 C CA 600 PASS - - - - - Ins - I 24050807 24050815 1 27 532.692 - - 7 1 1 - - ./. 0 0 0 0 23 21 23 21 0 0 ./. 2 8 5 11 32 31 32 32 5 11 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782712101 11 28651044 T TA 300 PASS - - - - - Ins - I 28651044 28651052 1 10 264.54 - - 7 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 1 4 2 5 27 22 28 22 2 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782720236 11 55071083 AT A 296 PASS - - - - - Del - D 55071083 55071093 1 16 323.95 - - 9 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 3 6 4 30 30 30 30 6 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782739897 11 112316202 C CT 540 PASS - - - - - Ins - I 112316202 112316208 1 28 480.506 - - 5 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 6 3 7 5 28 22 28 23 7 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782746008 11 129358418 CGT C 300 PASS - - - - - Del - D 129358418 129358435 2 12 269.356 - - 8 1 - - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 3 2 3 37 36 37 36 2 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782747009 11 132407345 CA C 660 PASS ENSG00000183715 CCDS8492.1 r.? - - Del intronic D 132407345 132407349 1 40 592.704 - - 3 1 1 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 18 25 18 0 0 ./. 4 7 6 8 26 27 26 27 6 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782756876 12 24604712 T TG 420 PASS - - - - - Ins - I 24604712 24604715 1 18 373.647 - - 2 1 1 - - ./. 0 0 0 0 16 8 17 8 0 0 ./. 5 2 8 3 22 23 22 23 8 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782761066 12 38054505 CT C 420 PASS - - - - - Del - D 38054505 38054507 1 14 377.861 - - 1 1 1 - - ./. 0 0 0 0 16 23 16 23 0 0 ./. 1 6 3 7 15 31 15 31 3 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782764844 12 49466207 AAC A 360 PASS RHEBL1 CCDS8778.1 r.? - - Del upstream D 49466207 49466223 2 15 322.075 - - 7 1 1 RHEBL1|CCDS8778.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RHEBL1|CCDS8778.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 2 4 2 29 5 29 5 4 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782773351 12 73509553 ACT A 300 PASS - - - - - Del - D 73509553 73509573 2 12 269.901 - - 9 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 2 3 2 33 32 33 32 3 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782781078 12 95691185 TC T 300 PASS VEZT CCDS44954.1 r.? - - Del intronic D 95691185 95691190 1 12 263.88 - - 4 1 1 VEZT|CCDS44954.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VEZT|CCDS44954.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 3 2 4 2 33 25 33 25 4 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782781461 12 96299920 A AT 420 PASS CCDC38 CCDS9056.1 r.? - - Ins intronic I 96299920 96299921 1 20 373.647 - - 0 1 1 CCDC38|CCDS9056.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC38|CCDS9056.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 19 26 19 0 0 ./. 4 3 4 3 26 25 27 25 4 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782813340 13 60164797 G GA 420 PASS - - - - - Ins - I 60164797 60164806 1 20 374.128 - - 8 1 1 - - ./. 0 0 0 0 21 23 21 23 0 0 ./. 4 3 5 5 35 30 35 31 5 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782827578 13 102394727 GAA G 300 PASS FGF14 CCDS9500.1 r.? - - Del intronic D 102394727 102394731 2 12 270.675 - - 3 1 1 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 3 2 4 4 24 26 24 26 4 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782828330 13 104552388 GT G 600 PASS - - - - - Del - D 104552388 104552394 1 32 541.349 - - 5 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 3 7 7 9 18 28 18 28 7 9 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782835943 14 27800298 AAAT A 389 PASS - - - - - Del - D 27800298 27800307 3 20 378.996 - - 2 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 4 3 4 34 30 34 30 3 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782844952 14 50061567 ACAGC A 569 PASS PPIL5 CCDS9686.1 r.? - - Del upstream D 50061567 50061572 4 27 541.423 - - 1 1 1 PPIL5|CCDS9686.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PPIL5|CCDS9686.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 8 2 9 31 39 31 39 2 9 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782846167 14 52028601 G GA 300 PASS FRMD6 CCDS9704.1 r.? - - Ins intronic I 52028601 52028609 1 12 267.701 - - 7 1 1 FRMD6|CCDS9704.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FRMD6|CCDS9704.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 24 12 25 0 0 ./. 3 2 3 4 36 52 36 53 3 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782853672 14 73526327 C CT 600 PASS RBM25 CCDS32113.1 r.? - - Ins intronic I 73526327 73526329 1 32 534.8 - - 1 1 1 RBM25|CCDS32113.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RBM25|CCDS32113.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 20 18 20 0 0 ./. 3 7 7 11 15 22 15 24 7 11 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782858919 14 88692745 GA G 660 PASS KCNK10 CCDS9881.1 r.? - - Del intronic D 88692745 88692752 1 42 594.963 - - 6 1 1 KCNK10|CCDS9881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNK10|CCDS9881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 5 6 6 9 25 30 25 30 6 9 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782864342 14 104107250 CTAT C 283 PASS C14orf153 CCDS32165.1 r.? - - Del intronic D 104107250 104107262 3 10 267.701 - - 3 1 1 C14orf153|CCDS32165.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C14orf153|CCDS32165.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 1 4 3 4 20 18 20 18 3 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782872349 15 37594898 CA C 360 PASS - - - - - Del - D 37594898 37594908 1 15 325.237 - - 9 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 2 7 3 31 28 31 28 7 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782879329 15 57229416 A AT 600 PASS TCF12 CCDS10159.1 r.? - - Ins intronic I 57229416 57229424 1 35 533.031 - - 7 1 1 TCF12|CCDS10159.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TCF12|CCDS10159.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 24 21 24 0 0 ./. 6 4 9 5 31 27 32 27 9 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782887585 15 79006200 CT C 960 PASS - - - - - Del - D 79006200 79006206 1 80 866.698 - - 5 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 7 9 11 12 31 33 31 33 11 12 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782892764 15 94212039 CCAA C 329 PASS - - - - - Del - D 94212039 94212045 3 12 325.237 - - 1 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 5 1 5 3 16 23 16 23 5 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782898012 16 4423162 TC T 480 PASS CORO7 CCDS10513.1 r.? - - Del intronic D 4423162 4423167 1 21 427.917 - - 4 1 1 CORO7|CCDS10513.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CORO7|CCDS10513.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 13 19 13 0 0 ./. 2 6 3 7 50 44 50 44 3 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782903699 16 14336218 TATC T 449 PASS MKL2 CCDS32391.1 r.? - - Del intronic D 14336218 14336224 3 24 432.131 - - 1 1 1 MKL2|CCDS32391.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MKL2|CCDS32391.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 3 5 5 33 32 33 32 5 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782905784 16 18842115 CA C 329 PASS SMG1 CCDS45430.1 r.? - - Del intronic D 18842115 18842125 1 15 323.948 - - 9 1 1 SMG1|CCDS45430.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMG1|CCDS45430.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 2 4 2 5 27 47 27 47 2 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782906095 16 19254986 GA G 300 PASS SYT17 CCDS10575.1 r.? - - Del intronic D 19254986 19254991 1 12 270.458 - - 4 1 1 SYT17|CCDS10575.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYT17|CCDS10575.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 5 4 26 36 26 36 5 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782910578 16 28211484 AG A 300 PASS XPO6 CCDS42135.1 r.? - - Del intronic D 28211484 28211486 1 12 269.254 - - 1 1 1 XPO6|CCDS42135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XPO6|CCDS42135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 2 3 2 3 36 55 36 55 2 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782911600 16 30126553 CA C 300 PASS MAPK3 CCDS42149.1 r.? - - Del intronic D 30126553 30126563 1 12 269.254 - - 9 1 1 MAPK3|CCDS42149.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 MAPK3|CCDS42149.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 3 2 3 2 49 47 49 47 3 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782918164 16 54991465 A AT 569 PASS - - - - - Ins - I 54991465 54991474 1 36 525.865 - - 8 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 5 5 6 5 23 16 23 16 6 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782919430 16 58571761 AATGCACAGGGATCTCAAAGCATTTCATCCTC A 319 PASS CNOT1 CCDS10799.1 r.5705+3_5705+33del31 c.5414+3_5414+33del31 p.? Del ess splice D 58571761 58571794 31 30 595.008 - - 1 1 1 CNOT1|CCDS10799.1|r.5705+3_5705+33del31|c.5414+3_5414+33del31|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:intron:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000188:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001627:SO:0001576 CNOT1|CCDS10799.1|r.5705+3_5705+33del31|c.5414+3_5414+33del31|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:intron:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000188:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001627:SO:0001576 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 9 1 8 31 29 32 30 2 9 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782924849 16 73851434 CAG C 300 PASS - - - - - Del - D 73851434 73851442 2 12 270.458 - - 3 1 1 - - ./. 0 0 0 0 13 24 13 24 0 0 ./. 2 3 4 6 21 20 21 20 4 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782930204 16 88254163 GC G 319 PASS - - - - - Del - D 88254163 88254168 1 10 486.825 - - 4 1 1 - - ./. 0 0 0 0 13 23 13 23 0 0 ./. 9 0 11 0 28 24 28 24 11 0 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782930265 16 88514867 A AC 480 PASS ZFPM1 CCDS32502.1 r.? - - Ins upstream I 88514867 88514874 1 25 427.917 - - 6 1 1 ZFPM1|CCDS32502.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ZFPM1|CCDS32502.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 21 13 21 0 0 ./. 4 4 5 4 19 29 19 32 5 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782932051 17 1935954 G GT 569 PASS DPH1 CCDS42228.1 r.? - - Ins intronic I 1935954 1935956 1 35 534.223 - - 1 1 1 DPH1|CCDS42228.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPH1|CCDS42228.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 21 12 21 0 0 ./. 4 6 7 8 25 43 25 43 7 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782932392 17 2651726 CTG C 269 PASS MIR1253 ENST00000408273 r.? - - Del upstream D 2651726 2651745 2 12 270.423 - - 9 1 1 MIR1253|ENST00000408273|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 MIR1253|ENST00000408273|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 15 18 15 18 0 0 ./. 2 3 2 4 24 38 24 38 2 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782942078 17 22136093 ACC A 544 PASS - - - - - Del - D 22136093 22136098 2 35 539.641 - - 4 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 6 4 12 6 39 38 39 38 12 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782946420 17 34490370 CT C 510 PASS TBC1D3B CCDS42300.1 r.? - - Del downstream D 34490370 34490374 1 19 971.716 - - 3 1 1 TBC1D3B|CCDS42300.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TBC1D3B|CCDS42300.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 18 6 18 6 0 0 ./. 18 0 24 0 61 16 61 16 24 0 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782948212 17 38156283 C CA 780 PASS PSMD3 CCDS11356.1 r.? - - Ins downstream I 38156283 38156292 1 54 693.466 - - 8 1 1 PSMD3|CCDS11356.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 PSMD3|CCDS11356.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 17 18 18 18 0 0 ./. 8 5 11 7 34 39 34 39 11 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782954566 17 51675472 G GA 540 PASS - - - - - Ins - I 51675472 51675479 1 28 481.342 - - 6 1 1 - - ./. 0 0 0 0 18 6 18 6 0 0 ./. 6 3 8 5 35 28 36 28 8 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782959120 17 62383807 CA C 269 PASS - - - - - Del - D 62383807 62383817 1 12 269.821 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 3 2 3 24 50 24 50 2 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782962388 17 69374222 TTC T 300 PASS - - - - - Del - D 69374222 69374241 2 12 270.423 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 2 4 2 45 35 45 35 4 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782966991 17 79009537 TGCGGCGGCCAG T 319 PASS BAIAP2 CCDS45806.1 r.? - - Del intronic D 79009537 79009550 11 40 593.124 - - 1 1 1 BAIAP2|CCDS45806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAIAP2|CCDS45806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 28 15 28 0 0 ./. 4 7 4 8 29 40 29 40 4 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782968852 18 912261 A AT 360 PASS ADCYAP1 CCDS11825.1 r.? - - Ins downstream I 912261 912269 1 15 321.193 - - 7 1 1 ADCYAP1|CCDS11825.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ADCYAP1|CCDS11825.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 18 16 19 16 0 0 ./. 4 2 4 5 39 43 39 43 4 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782985425 18 46762857 A AT 300 PASS DYM CCDS11937.1 r.? - - Ins intronic I 46762857 46762858 1 12 267.661 - - 0 1 - DYM|CCDS11937.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DYM|CCDS11937.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 8 24 9 0 0 ./. 2 3 2 4 19 25 19 25 2 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782988636 18 55119173 T TG 300 PASS ONECUT2 CCDS42440.1 r.? - - Ins intronic I 55119173 55119182 1 10 262.242 - - 8 1 1 ONECUT2|CCDS42440.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ONECUT2|CCDS42440.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 27 18 27 0 0 ./. 1 4 1 7 22 38 22 38 1 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782990026 18 57890206 G GT 660 PASS - - - - - Ins - I 57890206 57890214 1 30 588.854 - - 7 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 9 2 10 4 32 46 32 48 10 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782992306 18 64056648 CA C 360 PASS - - - - - Del - D 64056648 64056657 1 12 324.806 - - 8 1 1 - - ./. 0 0 0 0 24 10 24 10 0 0 ./. 5 1 6 2 33 11 33 11 6 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2782992655 18 64912191 T TA 300 PASS - - - - - Ins - I 64912191 64912199 1 10 267.059 - - 7 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 4 1 5 14 33 14 33 1 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783000640 19 4537198 AG A 749 PASS PLIN5 CCDS42473.1 r.? - - Del upstream D 4537198 4537201 1 56 703.508 - - 2 1 1 PLIN5|CCDS42473.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PLIN5|CCDS42473.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 23 15 23 0 0 ./. 7 6 9 7 55 36 55 36 9 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783005988 19 12625187 G GA 300 PASS ZNF709 CCDS45990.1 r.? - - Ins upstream I 12625187 12625197 1 10 266.968 - - 9 1 1 ZNF709|CCDS45990.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ENSG00000196826|ENST00000428311|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 31 16 31 0 0 ./. 1 4 2 7 44 61 44 61 2 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783017481 19 35811111 TCA T 360 PASS - - - - - Del - D 35811111 35811116 2 16 321.083 - - 2 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 3 7 4 43 25 43 25 7 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783025951 19 50602013 TA T 261 PASS - - - - - Del - D 50602013 50602023 1 10 487.044 - - 9 1 1 - - ./. 0 0 0 0 28 2 32 2 0 0 ./. 9 0 12 0 211 6 214 6 12 0 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783029231 19 55695094 C CA 295 PASS PTPRH CCDS33110.1 r.? - - Ins intronic I 55695094 55695104 1 12 266.968 - - 9 1 1 PTPRH|CCDS33110.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRH|CCDS33110.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 3 3 3 34 32 34 32 3 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783056076 2 74836346 CT C 509 PASS C2orf65 CCDS33229.1 r.? - - Del intronic D 74836346 74836348 1 30 483.927 - - 1 1 1 C2orf65|CCDS33229.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C2orf65|CCDS33229.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 4 5 4 6 26 26 26 26 4 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783057596 2 79731345 G GT 300 PASS CTNNA2 CCDS42703.2 r.? - - Ins intronic I 79731345 79731355 1 10 265.236 - - 9 1 1 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CTNNA2|CCDS42703.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 34 23 34 0 0 ./. 1 4 1 4 23 43 24 43 1 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783070260 2 122843462 C CTTCCTTCCTTCCCTT 300 PASS - - - - - Ins - I 122843462 122843475 15 12 218.275 - - 0 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 3 0 0 32 20 32 20 2 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783071595 2 127061727 TTA T 420 PASS - - - - - Del - D 127061727 127061732 2 20 375.184 - - 2 1 1 - - ./. 0 0 0 0 11 26 11 26 0 0 ./. 4 3 4 5 22 22 22 22 4 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783078191 2 146083754 G GT 300 PASS - - - - - Ins - I 146083754 146083764 1 12 265.838 - - 9 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 3 2 3 3 23 24 24 24 3 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783086067 2 172056798 AC A 420 PASS - - - - - Del - D 172056798 172056806 1 18 375.786 - - 7 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 2 5 2 6 20 23 20 23 2 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783088867 2 180400940 C CT 300 PASS ZNF385B CCDS33339.1 r.? - - Ins intronic I 180400940 180400949 1 10 265.838 - - 8 1 1 ZNF385B|CCDS33339.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF385B|CCDS33339.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 22 19 23 0 0 ./. 4 1 5 3 26 16 26 16 5 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783089254 2 181841864 C CA 480 PASS UBE2E3 CCDS2282.1 r.? - - Ins upstream I 181841864 181841868 1 25 425.341 - - 3 1 1 UBE2E3|CCDS2282.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 UBE2E3|ENST00000430956|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 4 5 6 14 17 15 18 5 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783089658 2 183231861 G GA 300 PASS PDE1A CCDS2285.1 r.? - - Ins intronic I 183231861 183231871 1 6 265.838 - - 9 1 1 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 0 5 0 5 11 28 11 28 0 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783095721 2 202984551 C CT 360 PASS ENSG00000182329 ENST00000295844 r.? - - Ins intronic I 202984551 202984553 1 15 318.404 - - 1 1 1 ENSG00000182329|ENST00000295844|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ENSG00000182329|ENST00000295844|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 18 10 19 0 0 ./. 2 4 5 7 20 25 20 25 5 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783114777 20 12171920 TC T 600 PASS - - - - - Del - D 12171920 12171922 1 36 536.188 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 5 5 5 8 29 36 29 36 5 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783117803 20 19730269 T TGAGACAGGAGGTCAGCAGAA 435 PASS - - - - - Ins - I 19730269 19730292 20 60 631.49 - - 1 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 11 4 5 0 50 32 56 37 11 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783121978 20 30099211 CT C 420 PASS HM13 CCDS13183.1 r.? - - Del upstream D 30099211 30099220 1 20 379.546 - - 8 1 1 HM13|CCDS13183.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HM13|CCDS13183.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 17 17 19 0 0 ./. 3 4 5 4 22 28 22 32 5 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783128048 20 43903349 G GT 300 PASS - - - - - Ins - I 43903349 43903357 1 10 268.094 - - 7 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 4 1 5 2 41 54 41 54 5 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783166988 22 48467015 GTACCTGAAATTTTGACTCTGAAATTAACACATCATCCTGTCTTTTTTCTGGCAGCCCTAACTTAAACGCAACCT G 319 PASS - - - - - Del - D 48467015 48467091 74 30 599.858 - - 1 1 1 - - ./. 0 0 0 0 15 28 15 28 0 0 ./. 9 2 0 0 19 21 28 23 9 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783176764 3 26215253 C CA 780 PASS - - - - - Ins - I 26215253 26215256 1 56 692.452 - - 2 1 1 - - ./. 0 0 0 0 28 21 28 21 0 0 ./. 6 7 6 8 27 22 27 22 6 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783177728 3 29100188 AT A 420 PASS - - - - - Del - D 29100188 29100191 1 20 377.073 - - 2 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 4 3 5 4 27 17 27 17 5 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783177965 3 29788923 AGATAGATAGATAGATAGAT A 300 PASS RBMS3 CCDS33725.1 r.? - - Del intronic D 29788923 29788944 19 12 269.338 - - 1 1 - RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 3 2 0 0 31 15 31 15 3 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783183319 3 47304983 CCT C 780 PASS KIF9 CCDS2752.1 r.? - - Del intronic D 47304983 47304986 2 56 690.646 - - 1 1 1 KIF9|CCDS2752.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF9|CCDS2752.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 7 6 7 6 21 28 21 28 7 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783225958 3 181180500 CTGAA C 567 PASS - - - - - Del - D 181180500 181180507 4 42 592.544 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 6 5 7 6 23 23 23 23 7 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783226999 3 184068224 CTTA C 600 PASS FAM131A CCDS3262.1 r.? - - Del downstream D 184068224 184068236 3 32 538.676 - - 3 1 1 FAM131A|CCDS3262.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CLCN2|CCDS3263.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 7 4 7 18 26 18 26 4 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783239412 4 19494777 GC G 300 PASS - - - - - Del - D 19494777 19494779 1 10 268.281 - - 1 1 1 - - ./. 0 0 0 0 18 18 18 19 0 0 ./. 4 1 6 1 42 17 42 17 6 1 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783250173 4 47282088 C CT 600 PASS GABRB1 CCDS3474.1 r.? - - Ins intronic I 47282088 47282097 1 27 531.746 - - 8 1 1 GABRB1|CCDS3474.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GABRB1|CCDS3474.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 8 12 0 0 ./. 2 8 4 10 34 38 34 38 4 10 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783250328 4 47717616 C CA 300 PASS CORIN CCDS3477.1 r.? - - Ins intronic I 47717616 47717626 1 12 260.455 - - 9 1 1 CORIN|CCDS3477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CORIN|CCDS3477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 27 19 28 0 0 ./. 2 3 2 3 34 44 35 44 2 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783260001 4 72598707 G GT 264 PASS - - - - - Ins - I 72598707 72598717 1 10 265.873 - - 9 1 1 - - ./. 0 0 0 0 22 23 22 23 0 0 ./. 4 1 5 1 32 43 33 43 5 1 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783270291 4 102068866 AAC A 300 PASS PPP3CA CCDS34037.1 r.? - - Del intronic D 102068866 102068883 2 12 268.281 - - 8 1 - PPP3CA|CCDS34037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP3CA|CCDS34037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 19 23 19 0 0 ./. 3 2 3 2 32 33 32 33 3 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783277506 4 123263493 T TTTTA 300 PASS KIAA1109 CCDS43267.1 r.? - - Ins intronic I 123263493 123263521 4 6 256.842 - - 6 1 - KIAA1109|CCDS43267.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA1109|CCDS43267.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 16 28 16 0 0 ./. 5 0 1 0 41 27 41 27 6 0 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783282021 4 134847819 CT C 780 PASS - - - - - Del - D 134847819 134847821 1 54 696.689 - - 1 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 8 5 11 8 32 38 32 38 11 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783282189 4 135393633 G GGAAGGAAGGGAAAGAGAAAGAGAGA 540 PASS - - - - - Ins - I 135393633 135393643 25 30 348.527 - - 0 1 1 - - ./. 0 0 0 0 17 24 18 24 0 0 ./. 4 5 0 0 38 34 38 34 4 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783287505 4 150785561 G GA 300 PASS - - - - - Ins - I 150785561 150785567 1 12 265.271 - - 5 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 2 3 4 26 25 26 25 3 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783290000 4 157035555 A AT 480 PASS - - - - - Ins - I 157035555 157035562 1 25 425.397 - - 6 1 1 - - ./. 0 0 0 0 23 10 23 10 0 0 ./. 4 4 6 5 43 24 44 24 6 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783295775 4 171667161 AATATGCT A 319 PASS - - - - - Del - D 171667161 171667170 7 42 591.544 - - 1 1 1 - - ./. 0 0 0 0 8 18 8 18 0 0 ./. 6 5 8 6 23 36 23 36 8 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783298595 4 178920471 AC A 409 PASS - - - - - Del - D 178920471 178920473 1 20 1021.76 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 19 0 20 0 48 11 48 11 20 0 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783305670 5 1043298 AGT A 449 PASS NKD2 CCDS3859.1 r.? - - Del downstream D 1043298 1043306 2 25 428.805 - - 3 1 - NKD2|CCDS3859.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NKD2|CCDS3859.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 33 33 33 46 0 0 ./. 4 4 5 4 68 57 68 70 6 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783311083 5 14480126 GAGGTGGCGGGACAAACTCTGGTGTCAGGAGTGAGTTTGCTGAG GTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA 300 PASS TRIO CCDS3883.1 r.6360+7_6360+49del43insuggcgggacagacucuggugucaggagugaguuugcugaa c.6336+7_6336+49del43insTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA p.? Complex splice region DI 14480127 14480169 43 12 0 - - 0 1 1 TRIO|CCDS3883.1|r.6360+7_6360+49del43insuggcgggacagacucuggugucaggagugaguuugcugaa|c.6336+7_6336+49del43insTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:indel:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:1000032:SO:CGPX04:SO:0001627:SO:0001576 TRIO|CCDS3883.1|r.6360+7_6360+49del43insuggcgggacagacucuggugucaggagugaguuugcugaa|c.6336+7_6336+49del43insTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:indel:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:1000032:SO:CGPX04:SO:0001627:SO:0001576 ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 2 0 0 43 30 46 32 3 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783314567 5 22831849 C CA 480 PASS CDH12 CCDS3890.1 r.? - - Ins intronic I 22831849 22831858 1 24 425.794 - - 8 1 1 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CDH12|CCDS3890.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 5 3 5 8 29 20 31 20 5 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783315141 5 24344805 C CA 600 PASS - - - - - Ins - I 24344805 24344812 1 27 532.243 - - 6 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 2 8 5 10 29 44 30 44 5 10 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783323465 5 43931706 A AT 420 PASS - - - - - Ins - I 43931706 43931713 1 14 370.162 - - 6 1 1 - - ./. 0 0 0 0 17 19 17 20 0 0 ./. 1 6 4 8 26 37 26 37 4 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783325340 5 52846918 T TA 780 PASS - - - - - Ins - I 52846918 52846927 1 56 691.916 - - 8 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 6 7 8 9 46 58 46 59 8 9 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783327257 5 56966088 TTG T 269 PASS - - - - - Del - D 56966088 56966108 2 12 263.111 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 5 2 33 36 33 36 5 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783327911 5 58843119 G GT 420 PASS PDE4D CCDS47213.1 r.? - - Ins intronic I 58843119 58843126 1 20 372.57 - - 6 1 1 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE4D|CCDS47213.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 4 3 6 5 29 25 29 25 6 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783332223 5 71741197 G GGC 327 PASS ZNF366 CCDS4015.1 r.? - - Ins intronic I 71741197 71741198 2 14 367.151 - - 0 1 1 ZNF366|CCDS4015.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF366|CCDS4015.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 17 0 0 ./. 1 6 0 0 30 50 30 50 1 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783334424 5 77420183 A AAC 503 PASS AP3B1 CCDS4041.1 r.? - - Ins intronic I 77420183 77420201 2 30 472.998 - - 8 1 1 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 23 20 23 0 0 ./. 4 5 6 6 43 39 43 40 6 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783336806 5 82480909 GA G 300 PASS XRCC4 CCDS4058.1 r.? - - Del intronic D 82480909 82480912 1 10 269.132 - - 2 1 1 XRCC4|CCDS4058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XRCC4|CCDS4058.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 1 4 1 5 14 30 14 30 1 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783342419 5 99182455 A AT 420 PASS - - - - - Ins - I 99182455 99182464 1 20 372.57 - - 8 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 4 4 4 30 35 31 36 4 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783344923 5 106183887 A AT 360 PASS - - - - - Ins - I 106183887 106183894 1 15 319.346 - - 6 1 1 - - ./. 0 0 0 0 16 16 17 17 0 0 ./. 2 4 4 4 37 34 37 35 4 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783356995 5 139494992 C CA 360 PASS PURA CCDS4220.1 r.1285_1286insa c.? p.? Ins 3'UTR variant I 139494992 139495001 1 16 315.733 - - 8 1 1 PURA|CCDS4220.1|r.1285_1286insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 PURA|CCDS4220.1|r.1285_1286insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 3 3 3 24 34 25 34 3 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783371048 5 174617874 T TA 298 PASS - - - - - Ins - I 174617874 174617883 1 15 306.702 - - 8 1 1 - - ./. 0 0 0 0 27 5 29 5 0 0 ./. 2 4 7 3 36 22 38 22 7 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783376184 6 6034691 G GA 300 PASS - - - - - Ins - I 6034691 6034701 1 12 266.56 - - 9 1 1 - - ./. 0 0 0 0 20 21 20 21 0 0 ./. 2 3 3 3 25 37 25 37 3 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783381387 6 19115089 A AT 300 PASS - - - - - Ins - I 19115089 19115096 1 12 266.56 - - 6 1 1 - - ./. 0 0 0 0 27 24 27 25 0 0 ./. 3 2 4 3 25 17 26 17 4 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783386091 6 31036066 AG A 300 PASS - - - - - Del - D 31036066 31036072 1 6 269.57 - - 5 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 5 0 1 0 14 10 14 10 6 0 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783391480 6 42656915 GAC G 480 PASS UBR2 CCDS4870.1 r.? - - Del intronic D 42656915 42656919 2 24 430.108 - - 1 1 1 UBR2|CCDS4870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBR2|CCDS4870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 3 8 5 22 17 22 17 8 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783393951 6 50147628 GTTTTC G 360 PASS - - - - - Del - D 50147628 50147641 5 16 323.484 - - 2 1 1 - - ./. 0 0 0 0 24 24 24 24 0 0 ./. 3 3 7 5 27 24 27 24 7 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783400655 6 69838460 CAAAAG C 327 PASS BAI3 CCDS4968.1 r.? - - Del intronic D 69838460 69838475 5 18 377.398 - - 2 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 2 5 4 6 24 17 24 17 4 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783400879 6 70495234 G GAT 480 PASS LMBRD1 CCDS4969.1 r.? - - Ins intronic I 70495234 70495239 2 21 421.679 - - 2 1 1 LMBRD1|CCDS4969.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LMBRD1|CCDS4969.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 21 19 21 0 0 ./. 2 6 4 7 30 29 31 29 4 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783433471 7 4217055 GC G 840 PASS SDK1 CCDS34590.1 r.? - - Del intronic D 4217055 4217061 1 63 753.744 - - 5 1 1 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 8 6 11 8 45 35 45 35 11 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783437362 7 12433149 T TA 420 PASS VWDE CCDS47544.1 r.? - - Ins intronic I 12433149 12433155 1 20 372.357 - - 5 1 1 VWDE|CCDS47544.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VWDE|CCDS47544.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 24 12 24 0 0 ./. 3 4 4 8 38 38 38 39 5 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783439130 7 17079984 AGT A 300 PASS - - - - - Del - D 17079984 17080001 2 10 268.807 - - 8 1 - - - ./. 0 0 0 0 14 24 14 24 0 0 ./. 4 1 4 1 35 33 35 33 4 1 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783439476 7 17989273 C CA 360 PASS - - - - - Ins - I 17989273 17989282 1 12 315.464 - - 8 1 1 - - ./. 0 0 0 0 23 32 23 32 0 0 ./. 1 5 3 7 32 35 33 35 3 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783446493 7 35811727 TGTAA T 420 PASS - - - - - Del - D 35811727 35811734 4 18 375.969 - - 1 1 1 - - ./. 0 0 0 0 25 16 25 16 0 0 ./. 5 2 5 2 38 22 38 22 5 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783450884 7 46988847 CG C 600 PASS - - - - - Del - D 46988847 46988849 1 27 536.41 - - 1 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 8 2 9 2 36 26 36 26 9 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783453127 7 52956982 G GT 300 PASS - - - - - Ins - I 52956982 52956992 1 10 265.797 - - 9 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 1 4 1 4 36 35 36 35 1 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783455188 7 57340566 ACTT A 449 PASS - - - - - Del - D 57340566 57340576 3 21 430.453 - - 3 1 1 - - ./. 0 0 0 0 24 20 24 20 0 0 ./. 6 2 9 2 46 21 46 21 9 2 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783476913 7 117129115 G GA 300 PASS CFTR CCDS5773.1 r.? - - Ins intronic I 117129115 117129125 1 6 266.399 - - 9 1 1 CFTR|CCDS5773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CFTR|CCDS5773.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 5 0 5 0 27 36 27 36 5 0 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783487801 7 148028604 ATGGATGGATGGAATGGATGGACGGATGGAG A 276 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 148028604 148028652 30 35 508.114 - - 1 1 - CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 19 28 19 0 0 ./. 6 4 0 0 60 35 63 35 6 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783491650 7 157687742 CT C 1140 PASS PTPRN2 CCDS5949.1 r.? - - Del intronic D 157687742 157687744 1 104 1017.13 - - 1 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 8 19 8 0 0 ./. 12 7 18 11 40 37 40 37 18 11 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783506002 8 39021149 A AGCATCATCTAGATAACAGTT 261 PASS ADAM32 CCDS47846.1 r.? - - Ins intronic I 39021149 39021172 20 28 377.51 - - 1 1 1 ADAM32|CCDS47846.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAM32|CCDS47846.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 26 23 26 0 0 ./. 6 3 2 2 86 66 90 67 6 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783513467 8 66793217 C CT 360 PASS - - - - - Ins - I 66793217 66793226 1 12 319.706 - - 8 1 - - - ./. 0 0 0 0 29 13 29 13 0 0 ./. 1 5 2 7 38 32 38 32 2 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783516858 8 76488866 TG T 449 PASS - - - - - Del - D 76488866 76488872 1 16 431.292 - - 5 1 1 - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 7 1 7 1 35 22 35 22 7 1 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783521289 8 90506688 T TA 480 PASS - - - - - Ins - I 90506688 90506697 1 25 426.475 - - 8 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 4 7 5 44 33 44 33 7 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783535516 8 131338253 G GA 600 PASS ASAP1 CCDS6362.1 r.? - - Ins intronic I 131338253 131338258 1 27 530.836 - - 4 1 1 ASAP1|CCDS6362.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASAP1|CCDS6362.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 2 8 2 9 33 29 33 29 2 9 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783538242 8 139323876 AT A 1320 PASS FAM135B CCDS6375.2 r.? - - Del intronic D 139323876 139323879 1 143 1186.5 - - 2 1 1 FAM135B|CCDS6375.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM135B|CCDS6375.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 10 12 11 14 39 39 39 39 11 14 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783539317 8 142038092 ACAGTAGT ACAAAGT 294 PASS - - - - - Complex - DI 142038093 142038099 7 24 0 - - 0 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 3 5 0 0 40 39 40 39 3 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783558653 9 72600260 A AT 420 PASS - - - - - Ins - I 72600260 72600261 1 20 371.151 - - 0 1 1 - - ./. 0 0 0 0 25 13 25 13 0 0 ./. 3 4 4 4 28 23 28 23 4 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783560059 9 76684983 AG A 480 PASS - - - - - Del - D 76684983 76684986 1 21 432.43 - - 2 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 6 2 7 4 28 13 28 13 7 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783562573 9 84364116 T TC 389 PASS - - - - - Ins - I 84364116 84364117 1 20 366.335 - - 0 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 3 8 4 30 13 30 13 8 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783562714 9 84948062 C CTT 960 PASS - - - - - Ins - I 84948062 84948064 2 81 841.981 - - 1 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 8 8 9 12 12 28 13 28 9 12 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783565072 9 92077887 AG A 275 PASS SEMA4D CCDS6685.1 r.? - - Del intronic D 92077887 92077892 1 16 318.904 - - 4 1 1 SEMA4D|CCDS6685.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SEMA4D|CCDS6685.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 13 11 0 0 ./. 3 3 4 6 14 15 18 15 4 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783569800 9 107449139 C CA 480 PASS - - - - - Ins - I 107449139 107449146 1 24 427.011 - - 6 1 1 - - ./. 0 0 0 0 20 13 21 14 0 0 ./. 3 5 6 6 22 20 23 20 6 6 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783576886 9 128143927 AT A 300 PASS - - - - - Del - D 128143927 128143929 1 12 267.86 - - 1 1 1 - - ./. 0 0 0 0 3 15 3 15 0 0 ./. 2 3 2 3 18 26 18 26 2 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783584550 X 17807300 CG C 360 PASS - - - - - Del - D 17807300 17807303 1 15 324.541 - - 2 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 4 2 5 14 18 14 18 2 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783585087 X 22146968 AC A 300 PASS PHEX CCDS14204.1 r.? - - Del intronic D 22146968 22146977 1 10 271.455 - - 8 1 1 PHEX|CCDS14204.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHEX|CCDS14204.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 1 4 1 7 12 21 12 21 1 7 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783588835 X 45164799 C CT 480 PASS - - - - - Ins - I 45164799 45164808 1 24 427.705 - - 8 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 5 7 8 30 17 30 18 7 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783589418 X 47900394 G GT 720 PASS - - - - - Ins - I 47900394 47900403 1 49 641.256 - - 8 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 6 6 13 11 23 30 23 30 13 11 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783594411 X 83541616 TC T 480 PASS - - - - - Del - D 83541616 83541618 1 24 432.521 - - 1 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 5 3 5 13 13 13 13 3 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783595511 X 88775813 AT A 450 PASS - - - - - Del - D 88775813 88775820 1 56 703.374 - - 6 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 7 7 8 13 16 13 16 7 8 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783596229 X 93407879 CT C 600 PASS - - - - - Del - D 93407879 93407885 1 35 540.501 - - 5 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 4 6 4 18 17 18 17 6 4 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783601992 X 126154491 C CA 600 PASS - - - - - Ins - I 126154491 126154501 1 35 536.889 - - 9 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 6 4 6 5 19 9 19 9 6 5 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783608171 Y 13143192 ATGCACACTGGCTGGAGTGCAGTGGCACAATATCAGCATGACATTTCATTTCTCCATTTCATTCCATCCATATCATTCCATTCCCCTCAACTGCACTCCACTCCTGTCCTCTTCTCTCCACTCCATTCCATTCCACTCCATATCCATTCCATTCCTTTTCTTCGACAGGATCTCGCTC A 265 PASS - - - - - Del - D 13143192 13143372 177 20 383.635 - - 1 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 3 0 0 17 18 17 18 4 3 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783609429 Y 13689603 G GTGGAATCGAGTGGAT 526 PASS - - - - - Ins - I 13689603 13689616 15 87 1372.62 - - 0 1 1 - - ./. 0 0 0 0 49 20 54 20 0 0 ./. 2 28 1 0 172 266 222 299 3 28 1 1 1 1 1 1 1 1 2825790 PD20343a PD20343b 2783609492 Y 13707103 AAATGG A 275 PASS - - - - - Del - D 13707103 13707125 5 28 766.667 - - 4 1 1 - - ./. 0 0 0 0 38 22 38 22 0 0 ./. 1 13 7 25 69 73 69 73 7 25 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769097633 1 99313778 C CT 480 PASS - - - - - Ins - I 99313778 99313785 1 21 424.715 - - 6 1 1 - - ./. 0 0 0 0 28 18 28 19 0 0 ./. 6 2 8 6 30 18 30 18 8 6 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769099439 1 104928511 CT C 360 PASS - - - - - Del - D 104928511 104928516 1 16 322.149 - - 4 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 3 3 6 3 34 16 34 16 6 3 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769117719 1 176065404 C CT 300 PASS RFWD2 CCDS30944.1 r.? - - Ins intronic I 176065404 176065414 1 12 265.447 - - 9 1 1 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 22 16 22 0 0 ./. 3 2 4 2 38 34 39 35 4 2 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769126862 1 203642074 AT A 420 PASS ATP2B4 CCDS1440.1 r.? - - Del intronic D 203642074 203642076 1 18 375.238 - - 1 1 1 ATP2B4|CCDS1440.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ATP2B4|CCDS1440.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 5 2 5 5 23 24 23 24 5 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769135188 1 228166994 ATTC A 263 PASS - - - - - Del - D 228166994 228167000 3 20 371.626 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 4 5 5 9 24 9 24 5 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769135268 1 228615650 CTG C 420 PASS HIST3H3 CCDS1572.1 r.? - - Del upstream D 228615650 228615654 2 18 375.238 - - 1 1 1 HIST3H3|CCDS1572.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HIST3H3|CCDS1572.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 22 16 22 16 0 0 ./. 5 2 7 6 27 16 27 16 7 6 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769137686 1 235844376 A AAG 478 PASS LYST CCDS31062.1 r.? - - Ins intronic I 235844376 235844380 2 24 470.58 - - 1 1 1 LYST|CCDS31062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LYST|CCDS31062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 20 17 20 0 0 ./. 2 7 3 9 11 21 11 21 3 9 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769144793 10 3989639 CTAA C 509 PASS - - - - - Del - D 3989639 3989649 3 30 484.682 - - 3 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 4 5 5 6 22 19 22 19 5 6 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769151422 10 20436537 T TA 420 PASS PLXDC2 CCDS7132.1 r.? - - Ins intronic I 20436537 20436546 1 20 372.159 - - 8 1 1 PLXDC2|CCDS7132.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLXDC2|CCDS7132.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 4 3 8 4 30 22 30 22 8 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769174711 10 88754939 C CTCATTAACA 261 PASS AC025268.1 ENST00000513247 r.? - - Ins intronic I 88754939 88754950 9 30 435.915 - - 1 1 1 AC025268.1|ENST00000513247|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC025268.1|ENST00000513247|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 24 26 24 0 0 ./. 4 5 3 5 30 26 30 26 4 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769177170 10 95993221 CT C 420 PASS PLCE1 CCDS41552.1 r.? - - Del intronic D 95993221 95993226 1 14 376.373 - - 4 1 1 PLCE1|CCDS41552.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCE1|CCDS41552.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 14 25 14 0 0 ./. 1 6 5 8 14 24 14 24 5 8 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769184824 10 118821180 C CT 774 PASS - - - - - Ins - I 118821180 118821182 1 54 692.27 - - 1 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 5 8 7 9 31 29 31 29 7 9 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769190612 10 134668812 C CA 300 PASS C10orf92 ENST00000368586 r.? - - Ins intronic I 134668812 134668817 1 10 266.258 - - 4 1 1 C10orf92|ENST00000368586|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C10orf92|ENST00000368586|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 27 24 27 0 0 ./. 1 4 1 7 23 26 25 27 1 7 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769193796 11 7996187 TA T 360 PASS - - - - - Del - D 7996187 7996195 1 15 322.992 - - 7 1 1 - - ./. 0 0 0 0 23 23 23 23 0 0 ./. 2 4 10 6 23 16 23 16 10 6 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769210435 11 59153227 TC T 400 PASS - - - - - Del - D 59153227 59153229 1 21 429.652 - - 1 1 1 - - ./. 0 0 0 0 26 18 26 18 0 0 ./. 6 2 7 2 20 14 20 14 7 2 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769216587 11 76659307 GTA G 269 PASS ACER3 CCDS8247.1 r.? - - Del intronic D 76659307 76659310 2 6 260.631 - - 1 1 - ACER3|CCDS8247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACER3|CCDS8247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 5 0 6 0 22 16 22 16 6 0 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769216600 11 76685766 CTTAA C 329 PASS ACER3 CCDS8247.1 r.? - - Del intronic D 76685766 76685774 4 16 322.992 - - 1 1 1 ACER3|CCDS8247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACER3|CCDS8247.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 23 21 23 0 0 ./. 3 3 4 5 17 19 17 19 4 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769218339 11 82049020 AT A 749 PASS AP002802.1 ENST00000500502 r.? - - Del intronic D 82049020 82049025 1 56 701.12 - - 4 1 1 AP002802.1|ENST00000500502|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AP002802.1|ENST00000500502|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 7 6 8 7 23 27 23 27 8 7 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769229033 11 114807417 AG A 360 PASS - - - - - Del - D 114807417 114807419 1 16 322.992 - - 1 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 3 3 3 4 21 15 21 15 3 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769230865 11 119401814 TC T 720 PASS - - - - - Del - D 119401814 119401816 1 48 645.984 - - 1 1 1 - - ./. 0 0 0 0 17 27 17 27 0 0 ./. 7 5 8 8 28 21 28 21 8 8 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769234263 11 129690030 GA G 615 PASS TMEM45B CCDS8482.1 r.? - - Del intronic D 129690030 129690034 1 42 583.02 - - 3 1 1 TMEM45B|CCDS8482.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TMEM45B|CCDS8482.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 6 5 8 7 25 14 25 14 8 7 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769249171 12 34511327 TG T 269 PASS - - - - - Del - D 34511327 34511337 1 12 250.544 - - 9 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 3 2 3 2 24 27 24 27 3 2 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769249895 12 39621061 CA C 300 PASS - - - - - Del - D 39621061 39621066 1 12 269.809 - - 4 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 3 2 6 3 20 17 20 17 6 3 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769252053 12 46328256 TCTTTC T 267 PASS SFRS2IP CCDS8748.2 r.725_729delGAAAG c.491_495delGAAAG p.G164fs*9 Del frameshift D 46328256 46328264 5 16 323.771 - - 1 1 1 SFRS2IP|CCDS8748.2|r.725_729delGAAAG|c.491_495delGAAAG|p.G164fs*9|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SFRS2IP|CCDS8748.2|r.725_729delGAAAG|c.491_495delGAAAG|p.G164fs*9|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 28 15 28 15 0 0 ./. 3 3 3 3 18 26 18 26 3 3 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769260098 12 69348731 GCCAGCACC G 319 PASS - - - - - Del - D 69348731 69348740 8 42 589.366 - - 1 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 5 6 5 6 23 18 23 18 5 6 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769271402 12 104681260 G GTGT 600 PASS TXNRD1 ENST00000429002 r.? - - Ins intronic I 104681260 104681266 3 36 521.557 - - 1 1 1 TXNRD1|ENST00000429002|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TXNRD1|ENST00000429002|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 22 15 22 0 0 ./. 5 5 9 8 24 24 24 24 9 8 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769278328 12 123285275 C CA 360 PASS CCDC62 CCDS9238.1 r.? - - Ins intronic I 123285275 123285284 1 12 320.159 - - 8 1 1 CCDC62|CCDS9238.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCDC62|CCDS9238.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 15 26 15 0 0 ./. 5 1 8 2 16 17 16 17 8 2 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769297682 13 63172891 G GA 420 PASS - - - - - Ins - I 63172891 63172899 1 20 373.395 - - 7 1 1 - - ./. 0 0 0 0 20 30 21 30 0 0 ./. 4 3 7 4 27 19 28 19 7 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769299208 13 68132580 G GAT 360 PASS - - - - - Ins - I 68132580 68132596 2 12 317.472 - - 7 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 5 1 5 3 23 19 24 20 5 3 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769312360 13 108011645 CT C 840 PASS FAM155A CCDS32006.1 r.? - - Del intronic D 108011645 108011647 1 63 757.626 - - 1 1 1 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 22 19 22 0 0 ./. 6 8 7 10 13 20 13 20 7 10 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769318930 14 31040270 CTG C 360 PASS G2E3 CCDS9638.1 r.? - - Del intronic D 31040270 31040276 2 16 321.821 - - 2 1 1 G2E3|CCDS9638.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 G2E3|CCDS9638.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 38 21 38 21 0 0 ./. 3 3 3 3 16 14 16 14 3 3 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769334915 14 75431143 GAA G 660 PASS - - - - - Del - D 75431143 75431146 2 30 595.525 - - 2 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 9 2 10 2 31 10 31 10 10 2 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769376229 16 451148 TTTTTTTTGTTTTTG T 841 PASS DECR2 CCDS10409.1 r.? - - Del upstream D 451148 451168 14 234 1559.83 - - 1 1 1 DECR2|CCDS10409.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 DECR2|CCDS10409.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 16 15 16 15 0 0 ./. 12 17 12 16 25 41 25 42 12 17 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769387106 16 21539924 T TG 346 PASS ENSG00000217794 ENST00000403120 r.? - - Ins downstream I 21539924 21539925 1 12 319.049 - - 0 1 1 ENSG00000217794|ENST00000403120|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000217794|ENST00000403120|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 50 46 50 46 0 0 ./. 1 5 2 7 81 81 82 81 2 7 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769388961 16 24947773 CG C 480 PASS ARHGAP17 CCDS32409.1 r.? - - Del intronic D 24947773 24947775 1 24 432.623 - - 1 1 1 ARHGAP17|CCDS32409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP17|CCDS32409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 13 23 13 0 0 ./. 5 3 9 4 49 25 49 25 9 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769392822 16 32344829 C CTCA 275 PASS - - - - - Ins - I 32344829 32344834 3 11 522.115 - - 1 1 - - - ./. 0 0 0 0 68 61 68 61 0 0 ./. 10 0 15 0 92 79 93 79 15 0 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769396309 16 47636842 GTC G 269 PASS PHKB CCDS42161.1 r.? - - Del intronic D 47636842 47636860 2 10 263.165 - - 8 1 - PHKB|CCDS42161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHKB|CCDS42161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 4 1 4 2 36 34 36 34 4 2 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769415302 17 15903980 A AT 300 PASS TTC19 CCDS11174.1 r.? - - Ins intronic I 15903980 15903990 1 10 266.943 - - 9 1 1 TTC19|CCDS11174.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC19|CCDS11174.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 24 23 24 0 0 ./. 1 4 1 4 31 32 31 32 1 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769416368 17 18921371 C CGCCT 329 PASS SLC5A10 CCDS11201.2 r.? - - Ins intronic I 18921371 18921385 4 16 302.992 - - 3 1 1 SLC5A10|CCDS11201.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC5A10|CCDS11201.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 22 14 22 0 0 ./. 3 3 6 4 32 22 32 24 6 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769416703 17 19968050 TTACA T 476 PASS CYTSB ENST00000395530 r.? - - Del intronic D 19968050 19968055 4 20 540.508 - - 1 1 1 CYTSB|ENST00000395530|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CYTSB|ENST00000395530|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 9 1 10 3 20 18 20 18 10 3 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769418034 17 22005983 C CT 600 PASS - - - - - Ins - I 22005983 22005985 1 35 534.487 - - 1 1 1 - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 4 6 6 11 16 24 16 24 6 11 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769423038 17 37793259 T TA 480 PASS STARD3 CCDS11341.1 r.? - - Ins upstream I 37793259 37793261 1 21 427.469 - - 1 1 1 STARD3|CCDS11341.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 STARD3|CCDS11341.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 20 16 20 16 0 0 ./. 2 6 6 8 19 23 19 23 6 8 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769441263 18 1739287 TTTTG T 478 PASS - - - - - Del - D 1739287 1739303 4 24 487.485 - - 3 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 7 2 7 4 32 14 33 14 8 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769456972 18 51134393 TG T 420 PASS - - - - - Del - D 51134393 51134396 1 20 379.155 - - 2 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 4 3 4 3 18 20 18 20 4 3 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769472186 19 12138001 TA T 720 PASS ZNF433 CCDS45983.1 r.? - - Del intronic D 12138001 12138007 1 49 644.799 - - 5 1 1 ZNF433|CCDS45983.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000219665|ENST00000406892|r.1250delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 18 22 18 22 0 0 ./. 6 6 9 6 22 19 22 19 9 6 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769493940 2 9797617 ACT A 840 PASS - - - - - Del - D 9797617 9797622 2 60 749.034 - - 2 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 5 9 5 10 20 24 20 24 5 10 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769497323 2 20216731 ATT A 300 PASS MATN3 CCDS46226.1 r.? - - Del upstream D 20216731 20216735 2 10 267.985 - - 3 1 1 MATN3|CCDS46226.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 MATN3|CCDS46226.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 27 17 27 0 0 ./. 1 4 3 5 15 26 15 26 3 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769500839 2 29889182 C CT 600 PASS ALK CCDS33172.1 r.? - - Ins intronic I 29889182 29889191 1 35 528.143 - - 8 1 1 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ALK|CCDS33172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 27 26 27 0 0 ./. 4 6 6 8 26 29 26 29 6 8 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769504061 2 38658382 CA C 360 PASS - - - - - Del - D 38658382 38658390 1 16 321.101 - - 7 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 3 4 7 15 23 15 23 4 7 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769506008 2 43647750 G GT 420 PASS THADA CCDS46268.1 r.? - - Ins intronic I 43647750 43647756 1 20 371.808 - - 5 1 1 THADA|CCDS46268.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 THADA|CCDS46268.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 17 22 17 0 0 ./. 3 4 7 4 24 20 24 20 7 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769509773 2 55397432 A AT 360 PASS - - - - - Ins - I 55397432 55397435 1 16 316.886 - - 2 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 3 3 3 4 27 38 27 39 3 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769510819 2 58776342 G GA 300 PASS - - - - - Ins - I 58776342 58776352 1 10 265.577 - - 9 1 1 - - ./. 0 0 0 0 23 20 23 20 0 0 ./. 1 4 2 4 22 39 23 39 2 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769552160 2 190082229 TTG T 300 PASS - - - - - Del - D 190082229 190082248 2 12 267.383 - - 9 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 3 2 3 2 23 22 23 22 3 2 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769574813 20 13096225 GA G 660 PASS SPTLC3 CCDS13115.2 r.? - - Del intronic D 13096225 13096227 1 42 596.567 - - 1 1 1 SPTLC3|CCDS13115.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPTLC3|CCDS13115.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 6 7 9 21 18 21 18 7 9 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769584657 20 42198527 GGTAAACAGAGACCTCAAGGCCACCTGGTGACCCAGA G 290 PASS SGK2 CCDS13321.1 r.? - - Del intronic D 42198527 42198564 36 35 542.881 - - 1 1 1 SGK2|CCDS13321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGK2|CCDS13321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 4 0 1 12 9 18 12 6 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769587462 20 49373039 CG C 720 PASS PARD6B CCDS33485.1 r.? - - Del downstream D 49373039 49373042 1 48 638.814 - - 2 1 1 PARD6B|CCDS33485.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PARD6B|ENST00000396039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 7 5 8 7 17 23 17 23 8 7 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769599355 21 23752464 A AGATGC 898 PASS - - - - - Ins - I 23752464 23752471 5 72 820.518 - - 1 1 1 - - ./. 0 0 0 0 21 34 21 34 0 0 ./. 5 11 6 11 15 26 15 26 6 11 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769603287 21 34372953 C CA 300 PASS - - - - - Ins - I 34372953 34372963 1 12 266.835 - - 9 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 2 3 3 5 17 29 17 29 3 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769630631 3 36581579 CAG C 360 PASS STAC CCDS2662.1 r.? - - Del intronic D 36581579 36581595 2 15 320.68 - - 7 1 1 STAC|CCDS2662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STAC|CCDS2662.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 4 2 4 2 16 24 16 24 4 2 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769635254 3 51155713 T TA 480 PASS DOCK3 CCDS46835.1 r.? - - Ins intronic I 51155713 51155716 1 24 424.161 - - 2 1 1 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK3|CCDS46835.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 30 15 30 0 0 ./. 3 5 3 5 24 19 24 19 3 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769670491 3 169181188 G GA 480 PASS MECOM ENST00000494292 r.? - - Ins intronic I 169181188 169181196 1 24 425.968 - - 7 1 1 MECOM|ENST00000494292|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MECOM|ENST00000494292|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 17 26 17 0 0 ./. 3 5 8 5 24 20 24 20 8 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769682798 4 7979084 TAC T 389 PASS ABLIM2 CCDS47015.1 r.? - - Del intronic D 7979084 7979094 2 20 367.022 - - 4 1 - ABLIM2|CCDS47015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABLIM2|CCDS47015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 22 12 22 0 0 ./. 4 3 6 4 23 20 23 20 6 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769685295 4 15897860 TC T 420 PASS - - - - - Del - D 15897860 15897866 1 20 376.655 - - 5 1 1 - - ./. 0 0 0 0 28 26 28 26 0 0 ./. 4 3 7 4 17 18 17 18 7 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769701743 4 66086845 TCTTA T 509 PASS - - - - - Del - D 66086845 66086855 4 30 484.271 - - 2 1 1 - - ./. 0 0 0 0 21 28 21 28 0 0 ./. 4 5 5 6 26 18 26 18 5 6 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769707937 4 85477199 AC A 300 PASS - - - - - Del - D 85477199 85477203 1 12 261.213 - - 3 1 1 - - ./. 0 0 0 0 29 38 29 38 0 0 ./. 2 3 6 8 25 31 25 31 6 8 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769712802 4 102369322 CT C 300 PASS BANK1 ENST00000504592 r.? - - Del intronic D 102369322 102369324 1 12 269.039 - - 1 1 1 BANK1|ENST00000504592|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BANK1|ENST00000504592|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 26 18 26 0 0 ./. 3 2 3 3 18 21 18 21 3 3 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769761026 5 56179417 C CT 600 PASS MAP3K1 CCDS43318.1 r.3730_3731insu c.3730_3731insT p.K1245fs*28 Ins frameshift I 56179417 56179419 1 35 532.753 - - 1 1 1 MAP3K1|CCDS43318.1|r.3730_3731insu|c.3730_3731insT|p.K1245fs*28|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 MAP3K1|CCDS43318.1|r.3730_3731insu|c.3730_3731insT|p.K1245fs*28|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 6 5 8 20 22 20 23 5 8 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769777495 5 110747941 AT A 660 PASS CAMK4 CCDS4103.1 r.? - - Del intronic D 110747941 110747944 1 36 592.049 - - 2 1 1 CAMK4|CCDS4103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMK4|CCDS4103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 22 22 22 0 0 ./. 8 3 10 6 25 17 25 17 10 6 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769796656 5 172742487 AAC A 809 PASS STC2 CCDS4388.1 r.4580_4581delGU c.? p.? Del 3'UTR variant D 172742487 172742493 2 48 750.069 - - 2 1 1 STC2|CCDS4388.1|r.4580_4581delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 STC2|CCDS4388.1|r.4580_4581delGU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 18 17 18 0 0 ./. 11 3 11 4 26 16 26 16 11 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769807128 6 19692264 TGTGTGTGGTGTGTGTG T 261 PASS - - - - - Del - D 19692264 19692288 16 30 484.304 - - 1 1 - - - ./. 0 0 0 0 15 28 15 28 0 0 ./. 5 4 5 4 27 26 27 26 5 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769816978 6 43772487 AGTGCCAGGAAATTGTTGGTCAAAG A 348 PASS - - - - - Del - D 43772487 43772515 24 48 646.542 - - 1 1 1 - - ./. 0 0 0 0 24 21 24 21 0 0 ./. 7 5 3 1 19 11 23 15 7 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769818067 6 47210362 AG A 720 PASS TNFRSF21 CCDS4921.1 r.? - - Del intronic D 47210362 47210370 1 40 645.338 - - 7 1 1 TNFRSF21|CCDS4921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNFRSF21|CCDS4921.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 17 22 17 0 0 ./. 9 3 11 6 24 24 24 24 11 6 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769823793 6 65731816 AACTC A 538 PASS EYS CCDS47445.1 r.? - - Del intronic D 65731816 65731832 4 32 529.152 - - 3 1 1 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EYS|CCDS47445.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 3 7 2 8 18 17 18 17 3 8 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769830271 6 85329983 CT C 360 PASS - - - - - Del - D 85329983 85329993 1 16 322.067 - - 9 1 1 - - ./. 0 0 0 0 26 22 26 22 0 0 ./. 3 3 7 3 16 15 16 15 7 3 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769834058 6 97710442 A AC 540 PASS C6orf167 CCDS5039.1 r.? - - Ins intronic I 97710442 97710444 1 24 475.273 - - 1 1 1 C6orf167|CCDS5039.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C6orf167|CCDS5039.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 7 2 8 4 20 22 20 22 8 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769848631 6 148254460 GAGAAAGTGACAATGTAGAAAGAAGATAGGAGACAGTGGGACTATTGAAGAGAGACACCCAATTAAGGAATTTCACAGGAATTTCAACATAGGGTACTGCTAATCCCCTCTTCTAAATGTTTGCTGACAAACGTGTAGAGCTTGTATTAGGGTGGAAACTGGAGCAGGCTAGGGAATAGGGAAGTGGAATTCTACTCTTTCTTTGCTGTATAACCTCAGGCAAAGTATCTTCATTCCTATCCAGCTTTGTGTCTTCATTTGTAAAAGGATTGAGTTAGACTGAGGTGTTGTTTTAGAGGTCCCTTTCGATTCCAAACAATCTAAAATTCTGTGACATCTCAAAATATCCTAGAGTAATGCAAATGCCACTTTTTAATATCTAGCATTAAAAACAACAAAAATAGCAAGGGCTGCTTAC G 290 PASS - - - - - Del - D 148254460 148254880 417 35 538.785 - - 1 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 6 4 0 0 13 18 19 22 6 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769854153 6 164108562 CT C 540 PASS - - - - - Del - D 164108562 164108564 1 30 484.304 - - 1 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 4 5 4 5 15 21 15 21 4 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769874463 7 52619401 A AAAAAG 360 PASS - - - - - Ins - I 52619401 52619426 5 15 305.273 - - 4 1 - - - ./. 0 0 0 0 23 38 24 38 0 0 ./. 2 4 3 5 35 32 35 32 3 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769883831 7 77256461 GAT G 780 PASS PTPN12 CCDS5592.1 r.1738_1739delAU c.1466_1467delAT p.T490fs*39 Del frameshift D 77256461 77256465 2 54 700.559 - - 1 1 1 PTPN12|CCDS5592.1|r.1738_1739delAU|c.1466_1467delAT|p.T490fs*39|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PTPN12|CCDS5592.1|r.1738_1739delAU|c.1466_1467delAT|p.T490fs*39|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 19 17 19 17 0 0 ./. 8 5 9 5 24 19 24 19 9 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769900468 7 130561912 TAATGC T 573 PASS MIR29B1 ENST00000385015 r.? - - Del downstream D 130561912 130561925 5 48 645.466 - - 2 1 1 MIR29B1|ENST00000385015|r.?|-|-|non_protein_coding:deletion:500B_downstream_variant|SO:0000011:SO:0000159:SO:0001634 MIR29A|ENST00000362111|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 10 25 10 25 0 0 ./. 5 7 9 6 27 18 27 19 9 7 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769912584 8 5229642 CT C 660 PASS - - - - - Del - D 5229642 5229651 1 42 591.111 - - 8 1 1 - - ./. 0 0 0 0 25 28 25 28 0 0 ./. 5 6 12 10 20 24 20 24 12 10 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769931303 8 61880734 TC T 660 PASS - - - - - Del - D 61880734 61880738 1 42 587.499 - - 3 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 6 5 14 5 51 43 51 43 14 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769931912 8 63544254 GA G 480 PASS NKAIN3 ENST00000328472 r.? - - Del intronic D 63544254 63544257 1 24 429.571 - - 2 1 1 NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 23 18 23 0 0 ./. 3 5 4 11 28 40 28 40 4 11 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769937824 8 76956591 TAC T 360 PASS - - - - - Del - D 76956591 76956606 2 15 323.081 - - 7 1 - - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 2 4 3 4 42 56 42 56 3 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769954648 8 117129356 C CT 300 PASS AF130342.1 ENST00000505156 r.? - - Ins intronic I 117129356 117129358 1 10 266.224 - - 1 1 1 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 18 20 18 0 0 ./. 4 1 4 1 51 35 52 35 4 1 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769963534 8 137784165 G GA 300 PASS - - - - - Ins - I 137784165 137784175 1 10 266.224 - - 9 1 1 - - ./. 0 0 0 0 18 19 18 20 0 0 ./. 1 4 1 4 51 42 51 43 1 4 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769969915 9 8258959 GGAGA G 569 PASS - - - - - Del - D 8258959 8258967 4 35 539.721 - - 3 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 6 4 7 6 25 18 25 18 7 6 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769977120 9 31415190 GA G 540 PASS - - - - - Del - D 31415190 31415196 1 18 484.485 - - 5 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 1 8 2 10 11 29 11 29 2 10 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769979580 9 38042079 A AG 420 PASS SHB CCDS43806.1 r.? - - Ins intronic I 38042079 38042082 1 20 372.808 - - 2 1 1 SHB|CCDS43806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SHB|CCDS43806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 21 13 21 0 0 ./. 4 3 6 3 22 19 22 19 6 3 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2769996369 9 110897413 CA C 480 PASS - - - - - Del - D 110897413 110897421 1 21 432.259 - - 7 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 6 2 9 3 15 24 15 24 9 3 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2770006479 9 140530753 AT A 569 PASS EHMT1 ENST00000428019 r.? - - Del intronic D 140530753 140530762 1 35 539.721 - - 8 1 1 EHMT1|ENST00000428019|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 EHMT1|ENST00000428019|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 23 25 23 0 0 ./. 4 6 6 8 20 28 20 28 6 8 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2770014271 X 32155198 CT C 300 PASS DMD CCDS14233.1 r.? - - Del intronic D 32155198 32155206 1 12 270.297 - - 7 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 2 3 2 21 17 21 17 3 2 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2770016242 X 41193392 TC T 540 PASS DDX3X CCDS43931.1 r.743delC c.? p.? Del 5'UTR variant D 41193392 41193395 1 24 485.932 - - 2 1 1 DDX3X|CCDS43931.1|r.743delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 DDX3X|CCDS43931.1|r.743delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 20 29 20 29 0 0 ./. 2 7 3 9 14 30 14 30 3 9 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2770019473 X 54624105 GC G 660 PASS - - - - - Del - D 54624105 54624110 1 40 594.05 - - 4 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 7 4 10 5 25 18 25 18 10 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2770027177 X 92137605 A AT 411 PASS - - - - - Ins - I 92137605 92137610 1 40 640.885 - - 4 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 9 3 9 5 35 17 35 17 9 5 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2770029897 X 103361484 TC T 989 PASS MCART6 CCDS35363.1 r.? - - Del intronic D 103361484 103361487 1 78 911.783 - - 2 1 1 MCART6|CCDS35363.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MCART6|CCDS35363.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 5 12 6 14 19 34 19 34 6 14 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2770035099 X 125148570 TG T 660 PASS - - - - - Del - D 125148570 125148573 1 42 594.652 - - 2 1 1 - - ./. 0 0 0 0 20 18 20 18 0 0 ./. 5 6 9 7 18 26 18 26 9 7 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2770036752 X 132408404 ATAT A 658 PASS - - - - - Del - D 132408404 132408409 3 48 648.712 - - 1 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 7 5 8 7 30 19 30 19 8 7 1 1 1 1 1 1 1 1 2816927 PD20405a PD20405b 2770039647 X 143895133 C CA 269 PASS - - - - - Ins - I 143895133 143895141 1 12 266.684 - - 7 1 1 - - ./. 0 0 0 0 29 39 29 39 0 0 ./. 2 3 2 3 15 25 15 25 2 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783696702 1 25161656 GGC G 360 PASS CLIC4 CCDS256.1 r.? - - Del intronic D 25161656 25161659 2 7 321.097 - - 1 1 1 CLIC4|CCDS256.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLIC4|CCDS256.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 6 0 8 3 34 12 34 12 8 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783708422 1 63636833 TG T 329 PASS - - - - - Del - D 63636833 63636836 1 15 321.097 - - 2 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 4 2 8 7 40 17 40 17 8 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783712667 1 77978463 TG T 296 PASS AK5 CCDS676.1 r.? - - Del intronic D 77978463 77978465 1 21 428.129 - - 1 1 1 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AK5|CCDS676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 2 6 3 6 25 26 25 26 3 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783715958 1 88034066 GGT G 300 PASS - - - - - Del - D 88034066 88034085 2 12 265.173 - - 9 1 - - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 2 3 2 28 21 28 21 3 2 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783725572 1 119658729 TC T 360 PASS WARS2 CCDS30817.1 r.? - - Del intronic D 119658729 119658733 1 15 321.097 - - 3 1 1 WARS2|CCDS30817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WARS2|CCDS30817.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 20 11 20 0 0 ./. 2 4 4 4 26 22 26 22 4 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783732369 1 156720269 T TG 360 PASS HDGF CCDS1156.1 r.? - - Ins intronic I 156720269 156720278 1 15 316.883 - - 8 1 1 HDGF|CCDS1156.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HDGF|CCDS1156.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 2 4 4 5 19 20 19 20 4 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783736329 1 169742937 TC T 540 PASS - - - - - Del - D 169742937 169742944 1 28 481.043 - - 6 1 1 - - ./. 0 0 0 0 12 24 12 24 0 0 ./. 3 6 5 6 26 21 26 21 5 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783737325 1 173159055 G GA 540 PASS TNFSF4 CCDS1306.1 r.? - - Ins intronic I 173159055 173159063 1 30 463.584 - - 7 1 1 TNFSF4|CCDS1306.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TNFSF4|CCDS1306.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 21 20 21 0 0 ./. 5 4 9 5 31 19 31 19 9 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783738461 1 177140664 TC T 869 PASS FAM5B CCDS1320.1 r.33delC c.? p.? Del 5'UTR variant D 177140664 177140667 1 72 798.528 - - 2 1 1 FAM5B|CCDS1320.1|r.33delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 FAM5B|CCDS1320.1|r.33delC|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 19 15 19 15 0 0 ./. 8 7 9 8 30 23 30 23 9 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783739526 1 180396437 C CT 660 PASS ACBD6 CCDS1339.1 r.? - - Ins intronic I 180396437 180396444 1 36 581.453 - - 6 1 1 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ACBD6|CCDS1339.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 17 14 0 0 ./. 3 8 5 8 23 30 23 30 5 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783739930 1 181536017 GA G 449 PASS CACNA1E ENST00000367573 r.? - - Del intronic D 181536017 181536019 1 25 420.303 - - 1 1 1 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 21 14 21 0 0 ./. 4 4 5 7 19 18 19 18 5 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783740948 1 185261231 T TA 269 PASS IVNS1ABP CCDS1368.1 r.? - - Ins downstream I 185261231 185261233 1 10 263.366 - - 1 1 1 IVNS1ABP|CCDS1368.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 IVNS1ABP|CCDS1368.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 19 14 19 0 0 ./. 1 4 1 4 23 29 23 30 1 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783750673 1 215864985 A AT 749 PASS USH2A CCDS31025.1 r.? - - Ins intronic I 215864985 215864993 1 56 687.883 - - 7 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 7 6 10 6 31 28 31 28 10 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783756159 1 233049073 TAG T 298 PASS - - - - - Del - D 233049073 233049079 2 16 321.097 - - 2 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 3 3 4 5 28 27 28 27 4 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783759214 1 241377539 AT A 300 PASS RGS7 CCDS31071.1 r.? - - Del intronic D 241377539 241377548 1 12 266.979 - - 8 1 1 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 23 19 23 0 0 ./. 3 2 5 6 19 21 19 21 5 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783760984 1 245827311 C CT 689 PASS KIF26B CCDS44342.1 r.? - - Ins intronic I 245827311 245827320 1 40 631.357 - - 8 1 1 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 3 9 3 10 40 27 40 28 3 10 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783772837 10 25070780 T TTAAATAAA 276 PASS - - - - - Ins - I 25070780 25070805 8 35 488.357 - - 6 1 - - - ./. 0 0 0 0 9 13 10 13 0 0 ./. 6 4 4 3 28 40 30 41 6 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783777046 10 34540580 CCT C 269 PASS PARD3 CCDS7178.1 r.? - - Del intronic D 34540580 34540596 2 12 253.209 - - 7 1 1 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 2 3 36 49 36 49 2 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783778256 10 37688652 GCTTAGAGTAATTTTAATTATAAAAAATTAAAATTA G 290 PASS - - - - - Del - D 37688652 37688717 35 20 536.521 - - 1 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 1 9 0 4 18 31 19 36 1 9 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783779741 10 42537846 C CTG 367 PASS - - - - - Ins - I 42537846 42537847 2 16 776.485 - - 0 1 1 - - ./. 0 0 0 0 56 11 57 30 0 0 ./. 15 0 21 0 159 31 167 53 21 0 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783782382 10 53333403 A AT 420 PASS PRKG1 CCDS7244.1 r.? - - Ins intronic I 53333403 53333412 1 20 371.351 - - 8 1 1 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 13 0 0 ./. 3 4 5 5 16 19 18 19 5 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783788980 10 73519643 TATACACACACACATATATACACACACAC T 420 PASS C10orf54 CCDS31218.1 r.? - - Del intronic D 73519643 73519675 28 14 373.759 - - 1 1 - C10orf54|CCDS31218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf54|CCDS31218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 1 0 0 38 88 38 88 6 1 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783791246 10 76538490 CAG C 360 PASS - - - - - Del - D 76538490 76538506 2 16 321.913 - - 7 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 3 5 3 63 54 63 54 5 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783791785 10 77326869 TTC T 480 PASS C10orf11 ENST00000354343 r.? - - Del intronic D 77326869 77326887 2 24 429.217 - - 8 1 1 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 28 16 28 0 0 ./. 5 3 6 5 98 101 98 101 6 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783791797 10 77349794 TG T 360 PASS C10orf11 ENST00000354343 r.? - - Del intronic D 77349794 77349796 1 7 304.453 - - 1 1 1 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 6 0 11 0 112 24 112 24 11 0 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783793445 10 80887232 T TA 480 PASS ZMIZ1 CCDS7357.1 r.? - - Ins intronic I 80887232 80887236 1 24 421.39 - - 3 1 1 ZMIZ1|CCDS7357.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZMIZ1|CCDS7357.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 14 0 0 ./. 5 3 9 12 82 82 83 82 9 12 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783793570 10 81137153 GAT G 435 PASS ZCCHC24 CCDS7359.1 r.? - - Del downstream D 81137153 81137156 2 72 798.761 - - 1 1 - ZCCHC24|CCDS7359.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZCCHC24|CCDS7359.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 16 17 16 0 0 ./. 7 8 1 1 76 91 77 99 8 9 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783794054 10 81908380 GGTA G 598 PASS ANXA11 CCDS7364.1 r.? - - Del downstream D 81908380 81908384 3 40 583.551 - - 1 1 1 ANXA11|CCDS7364.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ANXA11|CCDS7364.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 7 5 8 70 81 70 81 5 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783794126 10 82029124 T TA 420 PASS MAT1A CCDS7365.1 r.? - - Ins downstream I 82029124 82029132 1 20 371.351 - - 7 1 1 MAT1A|CCDS7365.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MAT1A|CCDS7365.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 3 5 4 89 84 90 85 5 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783794378 10 82469721 C CT 269 PASS - - - - - Ins - I 82469721 82469730 1 10 265.25 - - 8 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 1 8 3 80 87 80 89 8 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783794999 10 83821628 AAC A 269 PASS NRG3 CCDS31233.1 r.? - - Del intronic D 83821628 83821648 2 12 262.24 - - 9 1 - NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 3 2 4 5 82 85 82 85 4 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783795228 10 84265514 C CT 449 PASS NRG3 CCDS31233.1 r.? - - Ins intronic I 84265514 84265520 1 25 423.799 - - 5 1 1 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 4 10 4 98 99 100 100 10 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783795776 10 85377802 ATC A 389 PASS - - - - - Del - D 85377802 85377819 2 20 365.33 - - 8 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 4 4 5 103 76 103 76 4 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783796518 10 86774428 AG A 300 PASS - - - - - Del - D 86774428 86774430 1 6 255.015 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 0 9 0 72 107 72 107 9 0 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783803113 10 108427410 AG A 480 PASS SORCS1 CCDS7559.1 r.? - - Del intronic D 108427410 108427413 1 25 429.217 - - 2 1 1 SORCS1|CCDS7559.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SORCS1|CCDS7559.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 12 21 12 0 0 ./. 4 4 4 5 13 15 13 15 4 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783818899 11 23639728 T TA 480 PASS - - - - - Ins - I 23639728 23639736 1 9 425.743 - - 7 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 0 8 1 10 17 23 18 24 1 10 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783829052 11 57871064 AT A 540 PASS OR9Q1 CCDS31543.1 r.? - - Del intronic D 57871064 57871071 1 28 484.379 - - 6 1 1 OR9Q1|CCDS31543.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 OR9Q1|CCDS31543.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 6 17 6 0 0 ./. 3 6 6 8 22 22 22 22 6 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783833432 11 72516107 ATTC A 300 PASS - - - - - Del - D 72516107 72516113 3 12 269.1 - - 1 1 1 - - ./. 0 0 0 0 12 29 12 29 0 0 ./. 2 3 4 7 20 43 20 43 4 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783859346 12 20367742 GAA G 1020 PASS - - - - - Del - D 20367742 20367746 2 90 913.644 - - 3 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 9 8 13 10 28 25 28 25 13 10 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783864350 12 33425043 A AT 360 PASS - - - - - Ins - I 33425043 33425049 1 16 318.85 - - 5 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 3 3 4 5 28 33 28 33 4 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783868559 12 49428083 CTGGGAA C 348 PASS MLL2 CCDS44873.1 r.10508-7_10508-2deluuccca c.10508-7_10508-2delttccca p.? Del ess splice D 49428083 49428090 6 48 644.925 - - 1 1 1 MLL2|CCDS44873.1|r.10508-7_10508-2deluuccca|c.10508-7_10508-2delttccca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 MLL2|CCDS44873.1|r.10508-7_10508-2deluuccca|c.10508-7_10508-2delttccca|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 ./. 0 0 0 0 10 16 10 16 0 0 ./. 7 5 8 5 26 21 26 21 8 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783877397 12 74375802 G GC 257 PASS - - - - - Ins - I 74375802 74375803 1 18 903.409 - - 0 1 1 - - ./. 0 0 0 0 7 14 7 15 0 0 ./. 0 17 0 15 46 76 47 83 0 22 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783877484 12 74670941 T TA 269 PASS - - - - - Ins - I 74670941 74670950 1 10 254.872 - - 8 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 1 4 1 4 45 39 45 39 1 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783880982 12 85763884 TAG T 480 PASS - - - - - Del - D 85763884 85763890 2 21 429.95 - - 2 1 1 - - ./. 0 0 0 0 1 13 1 13 0 0 ./. 2 6 2 6 11 28 11 28 2 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783881865 12 88992085 GA G 420 PASS - - - - - Del - D 88992085 88992087 1 14 376.206 - - 1 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 6 1 6 3 16 13 16 13 6 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783883526 12 94690789 GTTC G 327 PASS PLXNC1 CCDS9049.1 r.? - - Del intronic D 94690789 94690795 3 18 375.604 - - 1 1 1 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 20 17 20 0 0 ./. 5 2 6 2 37 37 37 37 6 2 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783885344 12 100063442 TC T 1200 PASS ANKS1B ENST00000329257 r.? - - Del intronic D 100063442 100063444 1 117 1074.88 - - 1 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 8 12 17 15 36 39 36 39 17 15 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783887132 12 104995388 G GT 600 PASS CHST11 CCDS9099.1 r.? - - Ins intronic I 104995388 104995390 1 27 531.417 - - 1 1 1 CHST11|CCDS9099.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHST11|CCDS9099.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 15 17 15 0 0 ./. 2 8 4 8 40 55 40 55 4 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783888297 12 107620108 TG T 540 PASS - - - - - Del - D 107620108 107620110 1 10 468.643 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 9 0 17 0 36 39 36 39 17 0 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783888418 12 108004995 CT C 300 PASS BTBD11 CCDS31893.1 r.? - - Del intronic D 108004995 108005005 1 10 264.504 - - 9 1 1 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BTBD11|CCDS31893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 1 4 1 5 64 44 64 44 1 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783888696 12 108880617 T TTG 540 PASS AC010206.1 ENST00000502160 r.? - - Ins intronic I 108880617 108880635 2 28 472.857 - - 8 1 1 AC010206.1|ENST00000502160|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC010206.1|ENST00000502160|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 17 20 19 0 0 ./. 3 6 6 7 30 36 31 37 6 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783898804 13 22653788 A AT 780 PASS AL137248.1 ENST00000413646 r.? - - Ins intronic I 22653788 22653797 1 56 685.65 - - 8 1 1 AL137248.1|ENST00000413646|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL137248.1|ENST00000413646|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 21 19 21 0 0 ./. 7 6 8 8 28 31 28 31 8 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783900237 13 25790135 A AG 269 PASS - - - - - Ins - I 25790135 25790136 1 10 253.245 - - 0 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 4 1 4 1 19 26 19 26 4 1 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783905094 13 38915620 TA T 480 PASS - - - - - Del - D 38915620 38915623 1 24 421.568 - - 2 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 3 5 4 6 20 28 20 28 4 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783908614 13 48922031 T TA 360 PASS RB1 CCDS31973.1 r.? - - Ins intronic I 48922031 48922041 1 7 317.982 - - 9 1 1 RB1|CCDS31973.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RB1|CCDS31973.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 10 21 11 0 0 ./. 0 6 3 8 31 36 31 36 3 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783908835 13 49833983 CA C 540 PASS CDADC1 CCDS9415.1 r.? - - Del intronic D 49833983 49833985 1 28 480.887 - - 1 1 1 CDADC1|CCDS9415.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDADC1|CCDS9415.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 3 6 6 11 27 39 27 39 6 11 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783911093 13 56352409 G GA 540 PASS - - - - - Ins - I 56352409 56352417 1 28 479.682 - - 7 1 1 - - ./. 0 0 0 0 24 9 24 9 0 0 ./. 6 3 11 6 36 29 36 29 11 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783918365 13 76382717 T TG 300 PASS LMO7 CCDS9454.1 r.? - - Ins intronic I 76382717 76382725 1 12 266.49 - - 7 1 1 LMO7|CCDS9454.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LMO7|CCDS9454.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 4 5 26 24 27 24 4 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783919406 13 79710475 A AG 418 PASS - - - - - Ins - I 79710475 79710482 1 21 426.384 - - 6 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 2 6 5 9 22 41 22 41 5 9 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783928027 13 103944416 CA C 360 PASS - - - - - Del - D 103944416 103944422 1 15 323.401 - - 5 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 4 4 5 25 21 25 21 4 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783940075 14 45848793 ATTAG A 389 PASS - - - - - Del - D 45848793 45848804 4 14 377.529 - - 2 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 6 1 6 3 26 34 26 34 6 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783940607 14 47256835 G GA 283 PASS - - - - - Ins - I 47256835 47256838 1 42 586.637 - - 2 1 1 - - ./. 0 0 0 0 26 15 26 15 0 0 ./. 5 6 8 8 208 123 211 125 8 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783940873 14 47633835 G GA 473 PASS MDGA2 CCDS41948.1 r.? - - Ins intronic I 47633835 47633837 1 90 906.019 - - 1 1 1 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 8 9 9 9 170 174 176 175 12 10 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783943375 14 51681873 A AT 377 PASS - - - - - Ins - I 51681873 51681875 1 17 853.29 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 13 0 0 ./. 16 0 18 1 266 157 269 159 19 1 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783949889 14 70655837 T TCTCA 569 PASS SLC8A3 CCDS35498.1 r.? - - Ins upstream I 70655837 70655842 4 35 515.245 - - 1 1 1 SLC8A3|CCDS35498.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 SLC8A3|CCDS35498.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 6 8 9 17 25 17 25 8 9 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783953871 14 83798374 T TA 480 PASS - - - - - Ins - I 83798374 83798381 1 24 426.645 - - 6 1 1 - - ./. 0 0 0 0 11 16 12 16 0 0 ./. 3 5 4 6 10 26 10 26 4 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783962593 15 23723810 C CT 480 PASS - - - - - Ins - I 23723810 23723819 1 24 426.108 - - 8 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 5 3 6 5 27 29 28 30 6 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783982763 15 80703185 ATC A 269 PASS ARNT2 CCDS32307.1 r.? - - Del intronic D 80703185 80703205 2 10 263.081 - - 9 1 - ARNT2|CCDS32307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARNT2|CCDS32307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 18 30 18 0 0 ./. 4 1 4 1 35 23 35 23 4 1 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783983820 15 84575018 T TC 300 PASS ADAMTSL3 CCDS10326.1 r.? - - Ins intronic I 84575018 84575026 1 10 266.694 - - 7 1 1 ADAMTSL3|CCDS10326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAMTSL3|CCDS10326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 4 3 5 14 35 14 35 3 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783985177 15 88810870 AAG A 300 PASS AC009711.1 ENST00000506711 r.? - - Del intronic D 88810870 88810876 2 6 268.5 - - 2 1 - AC009711.1|ENST00000506711|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC009711.1|ENST00000506711|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 0 5 0 1 26 21 26 21 0 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783986611 15 92746755 TG T 420 PASS AC116903.2 ENST00000502597 r.? - - Del intronic D 92746755 92746757 1 14 377.586 - - 1 1 1 AC116903.2|ENST00000502597|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC116903.2|ENST00000502597|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 1 6 3 8 23 37 23 37 3 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783991800 16 4664865 TTAGCGAGCCGG T 435 PASS FAM100A CCDS10518.1 r.52_62delCCGGCUCGCUA c.? p.? Del 5'UTR variant D 4664865 4664877 11 72 807.942 - - 1 1 1 FAM100A|CCDS10518.1|r.52_62delCCGGCUCGCUA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 FAM100A|CCDS10518.1|r.52_62delCCGGCUCGCUA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 17 19 17 19 0 0 ./. 8 7 8 8 23 25 23 25 8 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783996058 16 14397140 T TG 540 PASS MIR193B ENST00000384907 r.? - - Ins upstream I 14397140 14397147 1 28 472.483 - - 6 1 1 MIR193B|ENST00000384907|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 MIR193B|ENST00000384907|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 ./. 0 0 0 0 15 11 15 11 0 0 ./. 3 6 3 8 22 23 22 24 3 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2783996989 16 17002745 CGT C 329 PASS - - - - - Del - D 17002745 17002763 2 16 321.009 - - 8 1 - - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 3 4 3 30 23 30 23 4 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784002873 16 32465364 AC A 380 PASS - - - - - Del - D 32465364 32465368 1 13 646.835 - - 3 1 1 - - ./. 0 0 0 0 10 33 10 33 0 0 ./. 12 0 15 0 81 51 81 51 15 0 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784010300 16 63138466 A AT 1920 PASS - - - - - Ins - I 63138466 63138470 1 289 1705.63 - - 3 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 16 16 18 24 39 42 39 44 18 24 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784024281 17 13498930 TCG T 658 PASS HS3ST3A1 CCDS11165.1 r.? - - Del intronic D 13498930 13498934 2 49 646.169 - - 1 1 1 HS3ST3A1|CCDS11165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HS3ST3A1|CCDS11165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 6 6 8 17 18 17 18 6 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784030954 17 33216078 AC A 540 PASS - - - - - Del - D 33216078 33216080 1 28 479.208 - - 1 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 6 3 10 6 31 15 31 15 10 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784031067 17 33581225 TTGTC T 358 PASS SLFN5 CCDS32619.1 r.? - - Del intronic D 33581225 33581235 4 20 376.932 - - 2 1 1 SLFN5|CCDS32619.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLFN5|CCDS32619.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 3 5 3 20 30 20 30 5 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784040217 17 56528819 A AT 420 PASS HSF5 CCDS32690.1 r.? - - Ins intronic I 56528819 56528828 1 20 368.503 - - 8 1 1 HSF5|CCDS32690.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HSF5|CCDS32690.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 20 13 20 0 0 ./. 4 3 5 5 31 24 33 24 5 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784041054 17 58751722 TC T 300 PASS BCAS3 ENST00000360207 r.? - - Del upstream D 58751722 58751725 1 12 267.431 - - 2 1 1 BCAS3|ENST00000360207|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 BCAS3|ENST00000360207|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 2 4 3 30 32 30 32 4 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784046617 17 72513440 TG T 300 PASS CD300LB CCDS11700.1 r.? - - Del downstream D 72513440 72513444 1 10 269.237 - - 3 1 1 CD300LB|CCDS11700.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CD300LB|CCDS11700.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 1 6 1 23 23 23 23 6 1 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784046735 17 72772579 AG A 478 PASS TMEM104 CCDS32723.1 r.? - - Del upstream D 72772579 72772582 1 30 474.994 - - 2 1 1 TMEM104|CCDS32723.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TMEM104|CCDS32723.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 5 4 6 13 15 13 15 4 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784057615 18 22832257 AG A 420 PASS ZNF521 CCDS32806.1 r.? - - Del intronic D 22832257 22832263 1 20 377.484 - - 5 1 1 ZNF521|CCDS32806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF521|CCDS32806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 10 26 10 0 0 ./. 3 4 6 8 31 28 31 28 6 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784061322 18 35102482 GCA G 389 PASS CELF4 CCDS32818.1 r.? - - Del intronic D 35102482 35102500 2 14 361.229 - - 8 1 1 CELF4|CCDS32818.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CELF4|CCDS32818.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 6 1 7 2 34 31 34 31 7 2 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784065459 18 48202161 A AT 386 PASS MAPK4 CCDS42437.1 r.? - - Ins intronic I 48202161 48202169 1 18 373.872 - - 7 1 1 MAPK4|CCDS42437.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAPK4|CCDS42437.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 2 7 12 31 43 31 45 7 12 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784071194 18 64676621 G GAGAGAT 261 PASS - - - - - Ins - I 64676621 64676628 6 30 449.988 - - 1 1 1 - - ./. 0 0 0 0 6 17 6 18 0 0 ./. 5 4 6 3 20 22 21 23 6 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784072951 18 69246835 TAGCTATCTGAGAGGTTAGTCAAAATAAATAATTC T 319 PASS - - - - - Del - D 69246835 69246871 34 42 594.136 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 6 4 4 24 16 25 18 5 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784093367 19 44329122 G GA 269 PASS ZNF230 CCDS46097.1 r.? - - Ins upstream I 44329122 44329132 1 12 265.358 - - 9 1 1 ZNF230|CCDS46097.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 AC011508.1|ENST00000499389|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 2 3 41 32 41 33 2 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784105305 2 16862896 A AT 321 PASS - - - - - Ins - I 16862896 16862899 1 14 367.672 - - 2 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 6 1 5 2 34 18 35 18 6 2 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784110949 2 35369458 CA C 300 PASS - - - - - Del - D 35369458 35369463 1 10 267.783 - - 4 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 1 5 1 20 15 20 15 5 1 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784113261 2 42462860 G GT 300 PASS EML4 CCDS1807.1 r.? - - Ins intronic I 42462860 42462868 1 6 264.773 - - 7 1 1 EML4|CCDS1807.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EML4|CCDS1807.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 10 23 10 0 0 ./. 5 0 7 0 21 30 21 31 7 0 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784113737 2 43873376 G GT 420 PASS PLEKHH2 CCDS1812.1 r.? - - Ins intronic I 43873376 43873378 1 20 370.682 - - 1 1 1 PLEKHH2|CCDS1812.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLEKHH2|CCDS1812.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 20 20 20 0 0 ./. 3 4 4 4 22 19 23 19 4 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784114750 2 47177692 ACCT A 389 PASS TTC7A CCDS33193.1 r.? - - Del intronic D 47177692 47177700 3 18 374.896 - - 2 1 1 TTC7A|CCDS33193.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC7A|CCDS33193.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 2 6 2 25 20 25 20 6 2 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784116245 2 51855145 C CT 540 PASS - - - - - Ins - I 51855145 51855151 1 30 476.591 - - 5 1 1 - - ./. 0 0 0 0 10 24 10 24 0 0 ./. 5 4 5 8 28 27 28 27 5 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784120684 2 66950579 G GA 540 PASS - - - - - Ins - I 66950579 66950587 1 28 474.785 - - 7 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 3 11 2 30 26 30 26 11 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784126965 2 87943196 GC G 276 PASS - - - - - Del - D 87943196 87943200 1 13 642.077 - - 3 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 12 0 14 0 31 11 31 11 14 0 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784132121 2 107491126 AT A 420 PASS ST6GAL2 CCDS2073.1 r.? - - Del intronic D 107491126 107491134 1 20 374.896 - - 7 1 1 ST6GAL2|CCDS2073.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ST6GAL2|CCDS2073.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 4 3 5 3 34 20 34 20 5 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784143643 2 144938013 T TA 540 PASS GTDC1 CCDS33300.1 r.? - - Ins intronic I 144938013 144938022 1 28 476.591 - - 8 1 1 GTDC1|CCDS33300.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GTDC1|CCDS33300.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 17 17 0 0 ./. 6 3 6 5 24 22 24 23 6 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784144343 2 147742531 TC T 720 PASS - - - - - Del - D 147742531 147742535 1 49 638.465 - - 3 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 6 6 7 8 24 30 24 30 7 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784149143 2 164323387 GAC G 300 PASS - - - - - Del - D 164323387 164323406 2 6 263.569 - - 9 1 - - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 0 5 1 4 23 28 23 28 1 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784149619 2 166164922 AT A 600 PASS SCN2A CCDS33314.1 r.? - - Del intronic D 166164922 166164924 1 36 535.566 - - 1 1 1 SCN2A|CCDS33314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCN2A|CCDS33314.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 20 10 20 0 0 ./. 5 5 5 8 30 24 30 24 5 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784159049 2 196419169 T TA 300 PASS - - - - - Ins - I 196419169 196419177 1 10 263.569 - - 7 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 1 5 2 18 20 18 20 5 2 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784167672 2 223116173 ATTACTATG ATAG 259 PASS PAX3 CCDS42826.1 r.? - - Complex intronic DI 223116174 223116181 8 20 0 - - 0 1 1 PAX3|CCDS42826.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 PAX3|CCDS42826.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 13 19 13 19 0 0 ./. 3 4 0 0 17 19 20 23 3 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784169762 2 229439624 AT A 276 PASS - - - - - Del - D 229439624 229439629 1 12 267.783 - - 4 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 2 3 2 5 18 26 18 26 2 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784176483 20 7717488 G GT 660 PASS - - - - - Ins - I 7717488 7717498 1 42 578.877 - - 9 1 1 - - ./. 0 0 0 0 28 15 29 15 0 0 ./. 6 5 8 7 27 23 27 23 8 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784180674 20 21784817 CGT C 300 PASS - - - - - Del - D 21784817 21784836 2 6 269.639 - - 9 1 - - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 0 5 1 5 34 29 34 29 1 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784184588 20 32080730 A AT 298 PASS CBFA2T2 CCDS13221.1 r.? - - Ins intronic I 32080730 32080740 1 16 320.075 - - 9 1 1 CBFA2T2|CCDS13221.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CBFA2T2|CCDS13221.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 3 3 11 10 41 34 41 35 11 10 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784187604 20 41135434 CCTTGAGATTCTGAGTCTTGTACTTTT C 464 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 41135434 41135462 26 77 864.772 - - 1 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 10 21 10 0 0 ./. 10 6 9 5 40 22 41 23 10 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784190194 20 48296213 C CA 269 PASS B4GALT5 CCDS13420.1 r.? - - Ins intronic I 48296213 48296222 1 10 263.016 - - 8 1 1 B4GALT5|CCDS13420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 B4GALT5|CCDS13420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 4 1 4 2 28 38 28 39 4 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784191661 20 51743557 T TA 300 PASS TSHZ2 CCDS33490.1 r.? - - Ins intronic I 51743557 51743567 1 12 263.016 - - 9 1 1 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 2 3 5 5 33 25 33 25 5 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784192713 20 54082402 TA T 300 PASS - - - - - Del - D 54082402 54082409 1 12 269.639 - - 6 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 9 6 30 30 30 30 9 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784192741 20 54150104 CATTTAA C 319 PASS - - - - - Del - D 54150104 54150116 6 40 593.327 - - 1 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 7 4 7 6 24 20 24 20 7 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784194171 20 58210455 A AT 360 PASS PHACTR3 CCDS13480.1 r.? - - Ins intronic I 58210455 58210463 1 16 320.677 - - 7 1 1 PHACTR3|CCDS13480.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PHACTR3|CCDS13480.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 17 23 18 0 0 ./. 3 3 7 6 26 28 26 28 7 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784201417 21 20760675 G GA 840 PASS - - - - - Ins - I 20760675 20760683 1 48 745.77 - - 7 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 11 3 16 6 40 17 40 17 16 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784211312 21 47072790 C CT 898 PASS PCBP3 CCDS42974.2 r.? - - Ins intronic I 47072790 47072798 1 65 857.813 - - 7 1 1 PCBP3|CCDS42974.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PCBP3|CCDS42974.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 4 12 5 17 18 38 19 39 5 17 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784230531 3 24334399 G GA 480 PASS THRB CCDS2641.1 r.? - - Ins intronic I 24334399 24334408 1 21 424.401 - - 8 1 1 THRB|CCDS2641.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 THRB|CCDS2641.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 6 5 7 18 27 18 27 5 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784238873 3 53490163 CAAGA C 447 PASS - - - - - Del - D 53490163 53490173 4 28 482.87 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 6 3 7 29 17 29 17 3 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784249314 3 83895100 AT A 540 PASS - - - - - Del - D 83895100 83895104 1 24 482.87 - - 3 1 1 - - ./. 0 0 0 0 24 1 24 1 0 0 ./. 7 2 10 2 27 4 27 4 10 2 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784257112 3 111609508 A AT 267 PASS PHLDB2 CCDS46886.1 r.? - - Ins intronic I 111609508 111609517 1 15 317.699 - - 8 1 1 PHLDB2|CCDS46886.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PHLDB2|CCDS46886.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 14 0 0 ./. 2 4 3 4 19 25 19 25 3 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784260590 3 122632536 CG C 360 PASS SEMA5B CCDS35491.1 r.2520-9delc c.2133-9delc p.? Del splice region D 122632536 122632542 1 16 320.107 - - 5 1 1 SEMA5B|CCDS35491.1|r.2520-9delc|c.2133-9delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 SEMA5B|CCDS35491.1|r.2520-9delc|c.2133-9delc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 3 6 3 22 13 22 13 6 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784262464 3 129286005 CA C 360 PASS PLXND1 CCDS33854.1 r.? - - Del intronic D 129286005 129286007 1 16 321.913 - - 1 1 1 PLXND1|CCDS33854.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXND1|CCDS33854.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 21 17 21 0 0 ./. 3 3 6 4 23 24 23 24 6 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784285118 4 5230251 A AT 629 PASS STK32B CCDS3380.1 r.? - - Ins intronic I 5230251 5230259 1 30 582.591 - - 7 1 1 STK32B|CCDS3380.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STK32B|CCDS3380.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 9 2 14 5 38 29 38 29 14 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784290219 4 20830489 CT C 960 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 20830489 20830491 1 77 857.914 - - 1 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 13 20 13 0 0 ./. 10 6 11 8 31 32 31 32 11 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784292640 4 27873719 ACG A 300 PASS - - - - - Del - D 27873719 27873723 2 12 267.496 - - 1 1 - - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 3 2 3 2 21 32 21 32 3 2 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784300986 4 53652128 ATG A 360 PASS - - - - - Del - D 53652128 53652148 2 16 313.289 - - 9 1 - - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 3 3 3 4 30 21 30 21 3 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784320635 4 115092931 CT C 720 PASS - - - - - Del - D 115092931 115092934 1 48 641.027 - - 2 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 7 5 7 6 24 31 24 31 7 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784339919 4 173254672 A AT 420 PASS GALNTL6 CCDS34104.1 r.? - - Ins intronic I 173254672 173254675 1 20 371.123 - - 2 1 1 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 8 21 8 0 0 ./. 4 3 7 6 39 36 39 36 7 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784356857 5 25456682 G GA 780 PASS - - - - - Ins - I 25456682 25456691 1 50 686.773 - - 8 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 9 4 11 7 36 32 36 33 11 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784360061 5 33617232 GGA G 660 PASS ADAMTS12 ENST00000504830 r.? - - Del intronic D 33617232 33617235 2 36 589.684 - - 1 1 1 ADAMTS12|ENST00000504830|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS12|ENST00000504830|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 8 3 9 4 21 22 21 22 9 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784366477 5 56160679 T TA 420 PASS MAP3K1 CCDS43318.1 r.953_954insa c.953_954insA p.L319fs*7 Ins frameshift I 56160679 56160681 1 18 371.422 - - 1 1 1 MAP3K1|CCDS43318.1|r.953_954insa|c.953_954insA|p.L319fs*7|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 MAP3K1|CCDS43318.1|r.953_954insa|c.953_954insA|p.L319fs*7|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 2 5 4 18 24 18 24 5 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784367644 5 59736167 C CA 540 PASS PDE4D CCDS47032.1 r.? - - Ins intronic I 59736167 59736176 1 24 477.542 - - 8 1 1 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 30 18 30 0 0 ./. 7 2 9 6 42 35 42 35 9 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784368008 5 61161416 TA T 540 PASS - - - - - Del - D 61161416 61161421 1 30 482.961 - - 4 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 4 5 5 5 29 21 29 21 5 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784380857 5 103285159 T TG 300 PASS - - - - - Ins - I 103285159 103285160 1 10 261.689 - - 0 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 1 4 3 5 32 36 32 36 3 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784384486 5 114319499 C CA 300 PASS - - - - - Ins - I 114319499 114319507 1 12 265.301 - - 7 1 1 - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 2 3 4 6 23 22 23 22 4 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784396360 5 154709609 A AC 360 PASS - - - - - Ins - I 154709609 154709618 1 16 318.362 - - 8 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 3 3 4 3 34 23 34 24 4 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784398398 5 161018332 T TA 637 PASS - - - - - Ins - I 161018332 161018340 1 42 583.061 - - 7 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 6 5 7 5 38 23 38 24 7 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784414755 6 26123729 G GT 300 PASS HIST1H2BC CCDS4584.1 r.425_426insa c.? p.? Ins 3'UTR variant I 26123729 26123732 1 12 265.479 - - 2 1 1 HIST1H2BC|CCDS4584.1|r.425_426insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 HIST1H2BC|CCDS4584.1|r.425_426insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 3 2 7 24 23 24 23 2 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784419128 6 35827164 C CA 449 PASS SRPK1 CCDS47415.1 r.? - - Ins intronic I 35827164 35827172 1 25 424.766 - - 7 1 1 SRPK1|CCDS47415.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SRPK1|CCDS47415.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 4 4 8 30 32 30 33 4 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784423348 6 49254196 CTCA C 449 PASS - - - - - Del - D 49254196 49254205 3 25 429.583 - - 2 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 4 4 4 22 17 22 17 4 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784431071 6 73464126 TAA T 540 PASS KCNQ5 CCDS4976.1 r.? - - Del intronic D 73464126 73464130 2 30 483.281 - - 3 1 1 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ5|CCDS4976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 5 4 6 5 35 29 35 29 6 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784435780 6 88781392 AAT A 360 PASS SPACA1 CCDS5014.1 r.? - - Del downstream D 88781392 88781409 2 16 322.187 - - 8 1 1 SPACA1|CCDS5014.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SPACA1|CCDS5014.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 20 14 20 14 0 0 ./. 3 3 3 3 35 25 35 25 3 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784450462 6 138954336 C CA 660 PASS - - - - - Ins - I 138954336 138954343 1 42 584.054 - - 6 1 1 - - ./. 0 0 0 0 16 15 17 15 0 0 ./. 6 5 7 7 29 24 29 24 7 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784450914 6 139877373 A AT 360 PASS - - - - - Ins - I 139877373 139877379 1 16 318.575 - - 5 1 1 - - ./. 0 0 0 0 25 19 25 19 0 0 ./. 3 3 3 4 16 25 16 25 3 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784451652 6 143170280 CAA C 360 PASS HIVEP2 CCDS43510.1 r.? - - Del intronic D 143170280 143170284 2 16 322.187 - - 3 1 1 HIVEP2|CCDS43510.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HIVEP2|CCDS43510.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 3 4 4 25 17 25 17 4 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784469296 7 24700162 AAC A 300 PASS MPP6 CCDS5388.1 r.? - - Del intronic D 24700162 24700181 2 10 268.29 - - 9 1 1 MPP6|CCDS5388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MPP6|CCDS5388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 1 5 1 25 28 25 28 5 1 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784473983 7 38969203 T TG 300 PASS VPS41 ENST00000418457 r.? - - Ins upstream I 38969203 38969204 1 12 256.248 - - 0 1 1 VPS41|ENST00000418457|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 VPS41|ENST00000457055|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 3 2 3 3 31 23 31 23 3 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784476363 7 46065726 C CT 480 PASS - - - - - Ins - I 46065726 46065732 1 21 424.447 - - 5 1 1 - - ./. 0 0 0 0 11 22 12 22 0 0 ./. 2 6 2 7 21 33 21 33 2 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784477295 7 49138007 G GA 360 PASS - - - - - Ins - I 49138007 49138017 1 12 318.335 - - 9 1 1 - - ./. 0 0 0 0 20 21 20 21 0 0 ./. 5 1 7 5 30 33 31 33 7 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784490851 7 86348444 G GA 660 PASS GRM3 CCDS5600.1 r.? - - Ins intronic I 86348444 86348453 1 42 582.41 - - 8 1 1 GRM3|CCDS5600.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GRM3|CCDS5600.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 21 25 21 0 0 ./. 6 5 7 7 38 40 39 41 7 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784498797 7 110817089 G GA 720 PASS IMMP2L CCDS5753.1 r.? - - Ins intronic I 110817089 110817098 1 40 636.068 - - 8 1 1 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 9 5 9 25 32 25 33 5 9 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784513822 7 154582290 TA T 540 PASS DPP6 ENST00000404039 r.? - - Del intronic D 154582290 154582296 1 10 482.921 - - 5 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 0 9 2 11 11 33 11 33 2 11 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784515204 7 158060988 CG C 300 PASS PTPRN2 CCDS5949.1 r.? - - Del intronic D 158060988 158060993 1 10 261.667 - - 4 1 1 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRN2|CCDS5949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 1 4 1 0 23 24 23 24 2 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784519579 8 12475651 A AT 414 PASS AC130352.2 ENST00000500162 r.? - - Ins intronic I 12475651 12475658 1 18 371.628 - - 6 1 1 AC130352.2|ENST00000500162|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC130352.2|ENST00000500162|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 24 27 25 0 0 ./. 2 5 7 8 18 28 19 28 7 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784527085 8 35093676 TC T 569 PASS UNC5D CCDS6093.2 r.? - - Del intronic D 35093676 35093681 1 35 536.918 - - 4 1 1 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 6 4 7 7 91 170 91 170 7 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784527456 8 35630333 TA T 420 PASS UNC5D CCDS6093.2 r.? - - Del intronic D 35630333 35630335 1 8 369.22 - - 1 1 1 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UNC5D|CCDS6093.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 7 0 22 0 154 131 154 131 22 0 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784527637 8 35933111 AT A 540 PASS - - - - - Del - D 35933111 35933115 1 28 483.227 - - 3 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 6 3 10 5 142 116 142 116 10 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784527798 8 36189056 CTG C 480 PASS - - - - - Del - D 36189056 36189073 2 24 429.535 - - 8 1 - - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 5 3 8 127 132 127 132 3 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784528363 8 37170953 GCA G 269 PASS - - - - - Del - D 37170953 37170971 2 12 268.459 - - 8 1 - - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 2 3 3 8 108 106 108 106 3 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784528614 8 37528246 AG A 300 PASS - - - - - Del - D 37528246 37528248 1 6 268.459 - - 1 1 1 - - ./. 0 0 0 0 11 17 11 18 0 0 ./. 5 0 15 0 198 224 198 224 15 0 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784530440 8 40763616 CTGGAAGGCAGTGCCAGCCCCTCCGCAAATCTTAGGAAACAGGAAGACCCTCTCCTCCTGTTGGAATGCTGTCAAAGAGTGTTCCTGCAGGCGAGGCTTCCATGTCCCCTGGAGATACCCTCTCATCTTTCTTCCCTTCCTTATACTTCCTACTTTCCTTTTCAATTTCCCACATTAGACCCTCATGACAGATATTCCTAAAGGTAACTTCTTTCTCTTACAAATCAGTCTATGCTGAT C 377 PASS - - - - - Del - D 40763616 40763856 238 50 689.565 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 9 4 0 0 17 15 26 19 9 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784531735 8 47089649 AG A 300 PASS - - - - - Del - D 47089649 47089652 1 12 266.051 - - 2 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 2 5 5 33 31 33 31 5 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784536520 8 62074564 A AC 360 PASS - - - - - Ins - I 62074564 62074566 1 16 318.539 - - 1 1 1 - - ./. 0 0 0 0 23 13 23 13 0 0 ./. 3 3 5 4 30 34 30 35 5 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784536970 8 63483629 T TC 259 PASS - - - - - Ins - I 63483629 63483630 1 8 371.628 - - 0 1 1 - - ./. 0 0 0 0 22 25 22 25 0 0 ./. 0 7 0 1 36 42 36 50 0 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784542584 8 80356016 CGT C 300 PASS - - - - - Del - D 80356016 80356031 2 10 268.459 - - 7 1 1 - - ./. 0 0 0 0 23 8 23 8 0 0 ./. 4 1 6 1 38 36 38 36 6 1 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784543266 8 82446337 TAC T 329 PASS FABP12 CCDS47882.1 r.? - - Del upstream D 82446337 82446346 2 16 322.151 - - 4 1 - FABP12|CCDS47882.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 FABP12|CCDS47882.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 3 4 3 42 23 42 23 4 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784547553 8 95628219 G GTAGA 592 PASS - - - - - Ins - I 95628219 95628226 4 64 717.97 - - 1 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 7 7 8 8 32 40 32 40 8 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784550325 8 103458508 T TA 540 PASS - - - - - Ins - I 103458508 103458509 1 30 477.808 - - 0 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 5 4 7 9 28 24 28 25 7 9 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784553262 8 112482534 TG T 300 PASS - - - - - Del - D 112482534 112482536 1 6 257.622 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 5 0 6 0 39 29 39 29 6 0 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784557329 8 124827421 G GT 300 PASS FAM91A1 CCDS6346.2 r.5240_5241insu c.? p.? Ins 3'UTR variant I 124827421 124827431 1 10 265.449 - - 9 1 1 FAM91A1|CCDS6346.2|r.5240_5241insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 FAM91A1|CCDS6346.2|r.5240_5241insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 19 18 20 18 0 0 ./. 4 1 5 2 39 36 40 37 5 2 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784566895 9 7880843 G GA 360 PASS - - - - - Ins - I 7880843 7880850 1 16 319.754 - - 6 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 3 8 6 30 23 30 24 8 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784573410 9 30423594 GA G 509 PASS - - - - - Del - D 30423594 30423601 1 28 483.845 - - 6 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 6 4 10 23 25 23 25 4 10 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784578480 9 68413289 TGCTTTCTTTT TTTTTCTTGC 307 PASS - - - - - Complex - DI 68413290 68413299 10 36 0 - - 0 1 1 - - ./. 0 0 0 0 60 86 61 88 0 0 ./. 8 3 0 0 119 145 119 147 8 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784578713 9 68425873 AAAAC A 261 PASS - - - - - Del - D 68425873 68425883 4 10 482.641 - - 2 1 1 - - ./. 0 0 0 0 94 192 94 192 0 0 ./. 0 9 0 11 106 246 106 246 0 11 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784581404 9 75451393 CT C 480 PASS TMC1 CCDS6643.1 r.? - - Del downstream D 75451393 75451401 1 16 429.95 - - 7 1 1 TMC1|CCDS6643.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 TMC1|CCDS6643.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 18 10 18 10 0 0 ./. 7 1 10 3 24 14 24 14 10 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784581592 9 76226009 T TG 300 PASS - - - - - Ins - I 76226009 76226011 1 12 266.461 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 2 3 3 3 22 26 22 26 3 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784587894 9 98583941 C CA 300 PASS - - - - - Ins - I 98583941 98583947 1 10 266.461 - - 5 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 1 6 2 19 19 19 19 6 2 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784597227 9 130777452 G GT 269 PASS - - - - - Ins - I 130777452 130777460 1 12 264.053 - - 7 1 1 - - ./. 0 0 0 0 16 22 16 23 0 0 ./. 3 2 3 4 32 29 32 29 3 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784600664 X 3087689 TG T 360 PASS - - - - - Del - D 3087689 3087691 1 16 322.709 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 3 4 5 22 17 22 17 4 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784601720 X 6041142 G GA 300 PASS NLGN4X CCDS14126.1 r.? - - Ins intronic I 6041142 6041152 1 10 265.914 - - 9 1 1 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 13 16 0 0 ./. 4 1 4 1 25 25 25 25 4 1 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784605195 X 19258574 AACTG A 418 PASS - - - - - Del - D 19258574 19258582 4 25 430.278 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 4 4 5 5 16 26 16 26 5 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784605203 X 19285429 C CA 449 PASS - - - - - Ins - I 19285429 19285437 1 24 424.86 - - 7 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 5 4 14 27 44 27 45 4 14 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784605314 X 19808741 A AT 420 PASS SH3KBP1 CCDS14193.1 r.? - - Ins intronic I 19808741 19808750 1 20 372.279 - - 8 1 1 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 3 4 3 7 25 27 26 27 3 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784608060 X 30553057 T TA 329 PASS - - - - - Ins - I 30553057 30553064 1 15 319.096 - - 6 1 1 - - ./. 0 0 0 0 19 26 19 27 0 0 ./. 4 2 7 3 30 23 30 23 7 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784610620 X 41456804 CACTG C 478 PASS CASK CCDS48095.1 r.? - - Del intronic D 41456804 41456812 4 24 483.461 - - 1 1 1 CASK|CCDS48095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CASK|CCDS48095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 7 3 8 16 27 16 27 3 8 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784611813 X 46154953 GT G 720 PASS - - - - - Del - D 46154953 46154961 1 49 644.815 - - 7 1 1 - - ./. 0 0 0 0 17 24 17 24 0 0 ./. 6 6 7 12 24 38 24 38 8 12 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784614085 X 55204172 CT C 360 PASS - - - - - Del - D 55204172 55204177 1 16 322.709 - - 4 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 3 3 8 5 31 23 31 23 8 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784617974 X 76169711 CT C 387 PASS - - - - - Del - D 76169711 76169719 1 16 430.278 - - 7 1 - - - ./. 0 0 0 0 21 6 21 6 0 0 ./. 1 7 3 12 23 40 23 40 3 12 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784620114 X 84499740 A AG 420 PASS ZNF711 CCDS35344.1 r.? - - Ins intronic I 84499740 84499750 1 20 368.065 - - 9 1 1 ZNF711|CCDS35344.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF711|CCDS35344.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 4 10 6 29 16 29 17 10 6 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784620599 X 86271789 T TA 360 PASS - - - - - Ins - I 86271789 86271797 1 15 319.096 - - 7 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 2 8 5 34 29 34 29 8 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784624837 X 102754191 TC T 360 PASS RAB40A CCDS35357.1 r.? - - Del downstream D 102754191 102754195 1 12 322.709 - - 3 1 1 RAB40A|CCDS35357.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 RAB40A|CCDS35357.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 15 19 15 19 0 0 ./. 1 5 1 7 17 22 17 22 1 7 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784625569 X 105900456 AACTTTTCTTCTCCAGCTTCCTC A 261 PASS CXorf57 CCDS14519.1 r.? - - Del intronic D 105900456 105900483 22 30 483.461 - - 1 1 1 CXorf57|CCDS14519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CXorf57|CCDS14519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 21 5 21 0 0 ./. 4 5 2 4 30 32 32 33 4 5 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784625895 X 107795840 C CA 600 PASS COL4A5 CCDS35366.1 r.? - - Ins intronic I 107795840 107795847 1 32 531.827 - - 6 1 1 COL4A5|CCDS35366.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL4A5|CCDS35366.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 21 11 21 0 0 ./. 3 7 5 10 27 35 27 35 5 10 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784626083 X 108686537 AT A 420 PASS GUCY2F CCDS14545.1 r.? - - Del intronic D 108686537 108686547 1 18 376.493 - - 9 1 1 GUCY2F|CCDS14545.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GUCY2F|CCDS14545.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 5 2 9 4 24 28 24 28 9 4 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784631867 X 131877952 G GA 300 PASS HS6ST2 CCDS48169.1 r.? - - Ins intronic I 131877952 131877953 1 12 265.914 - - 0 1 1 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HS6ST2|CCDS48169.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 6 9 30 30 30 31 6 9 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784634279 X 141502962 TA T 660 PASS - - - - - Del - D 141502962 141502968 1 36 591.632 - - 5 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 8 3 10 3 30 24 30 24 10 3 1 1 1 1 1 1 1 1 2825768 PD7239a PD7239b 2784635257 X 145079144 AC A 480 PASS MIR891B ENST00000401245 r.? - - Del downstream D 145079144 145079148 1 24 426.064 - - 3 1 1 MIR891B|ENST00000401245|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 MIR890|ENST00000401256|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 3 7 5 25 23 25 23 7 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777725720 1 3421958 CG C 329 PASS MEGF6 CCDS41237.1 r.? - - Del intronic D 3421958 3421960 1 16 305.31 - - 1 1 1 MEGF6|CCDS41237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MEGF6|CCDS41237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 3 3 5 4 20 23 20 23 5 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777730102 1 15998123 TAG T 600 PASS DDI2 CCDS30607.1 r.? - - Del downstream D 15998123 15998128 2 35 535.341 - - 2 1 1 DDI2|CCDS30607.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DDI2|CCDS30607.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 25 21 25 21 0 0 ./. 6 4 6 5 22 18 22 18 6 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777733710 1 24594320 CCATA C 776 PASS - - - - - Del - D 24594320 24594325 4 66 802.711 - - 1 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 5 10 6 14 13 27 13 27 6 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777738046 1 37967234 G GC 1020 PASS MEAF6 CCDS418.1 r.? - - Ins intronic I 37967234 37967238 1 90 898.46 - - 3 1 1 MEAF6|CCDS418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MEAF6|CCDS418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 22 15 23 0 0 ./. 8 9 12 12 18 25 18 25 12 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777738849 1 39968995 AG A 720 PASS BMP8A CCDS437.1 r.? - - Del intronic D 39968995 39968997 1 40 643.132 - - 1 1 1 BMP8A|CCDS437.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BMP8A|CCDS437.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 9 5 11 11 28 11 28 5 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777741122 1 46475978 G GGAGA 269 PASS MAST2 CCDS41326.1 r.? - - Ins intronic I 46475978 46475983 4 12 254.124 - - 2 1 1 MAST2|CCDS41326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAST2|CCDS41326.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 20 17 20 0 0 ./. 3 2 3 3 20 15 20 15 3 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777744565 1 58241223 GA G 840 PASS DAB1 CCDS607.1 r.? - - Del intronic D 58241223 58241233 1 64 750.32 - - 9 1 1 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DAB1|CCDS607.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 7 7 12 11 21 20 21 20 12 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777746358 1 64114003 GA G 960 PASS PGM1 CCDS625.1 r.? - - Del intronic D 64114003 64114006 1 65 853.295 - - 2 1 1 PGM1|CCDS625.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PGM1|CCDS625.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 18 21 18 0 0 ./. 12 4 16 6 23 12 23 12 16 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777750609 1 78666150 AC A 300 PASS - - - - - Del - D 78666150 78666158 1 10 267.972 - - 7 1 1 - - ./. 0 0 0 0 21 23 21 23 0 0 ./. 1 4 1 5 21 16 21 16 1 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777754464 1 91724040 TTCC TG 836 PASS HFM1 CCDS30769.2 r.? - - Complex downstream DI 91724041 91724043 3 77 0 - - 0 1 1 HFM1|CCDS30769.2|r.?|-|-|protein_coding:indel:5KB_downstream_variant|SO:0000010:SO:1000032:SO:0001633 HFM1|CCDS30769.2|r.?|-|-|protein_coding:indel:5KB_downstream_variant|SO:0000010:SO:1000032:SO:0001633 ./. 0 0 0 0 15 24 15 24 0 0 ./. 10 6 0 0 21 17 21 17 10 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777757288 1 100879202 GC G 720 PASS CDC14A CCDS769.1 r.? - - Del intronic D 100879202 100879204 1 45 642.53 - - 1 1 1 CDC14A|CCDS769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC14A|CCDS769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 8 8 12 12 15 12 15 8 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777757700 1 102154344 CAGCCAT C 464 PASS - - - - - Del - D 102154344 102154353 6 72 857.509 - - 1 1 1 - - ./. 0 0 0 0 21 20 21 20 0 0 ./. 5 11 7 12 15 18 15 18 7 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777757719 1 102218682 GTATTAATATTTTAAAGGAAGTATCTC G 551 PASS - - - - - Del - D 102218682 102218710 26 108 1018.29 - - 1 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 8 11 5 6 15 12 18 17 8 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777761304 1 113459550 C CA 298 PASS SLC16A1 CCDS858.1 r.? - - Ins intronic I 113459550 113459560 1 15 304.708 - - 9 1 1 SLC16A1|CCDS858.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC16A1|CCDS858.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 35 26 35 0 0 ./. 2 4 3 4 18 30 18 30 3 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777763351 1 120573483 CT C 420 PASS NOTCH2 CCDS908.1 r.? - - Del intronic D 120573483 120573486 1 72 803.915 - - 2 1 1 NOTCH2|CCDS908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOTCH2|CCDS908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 68 80 68 80 0 0 ./. 7 8 9 11 71 108 71 108 9 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777764659 1 142801520 TC T 348 PASS - - - - - Del - D 142801520 142801522 1 56 695.522 - - 1 1 1 - - ./. 0 0 0 0 143 107 143 107 0 0 ./. 7 6 10 6 151 172 151 172 10 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777766525 1 145117771 TTA T 540 PASS - - - - - Del - D 145117771 145117778 2 30 482.349 - - 3 1 1 - - ./. 0 0 0 0 82 91 82 91 0 0 ./. 5 4 5 10 163 183 163 183 5 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777767897 1 148521477 TA T 434 PASS - - - - - Del - D 148521477 148521484 1 56 696.124 - - 6 1 1 - - ./. 0 0 0 0 36 46 36 46 0 0 ./. 6 7 6 8 85 61 85 61 7 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777768829 1 149923074 TTAGTAGAGATGGGG T 290 PASS OTUD7B CCDS41389.1 r.? - - Del intronic D 149923074 149923090 14 32 532.933 - - 1 1 1 OTUD7B|CCDS41389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OTUD7B|CCDS41389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 7 3 7 4 42 37 42 37 7 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777773882 1 157451695 TA T 300 PASS - - - - - Del - D 157451695 157451705 1 12 267.972 - - 9 1 1 - - ./. 0 0 0 0 14 26 14 26 0 0 ./. 3 2 3 2 35 44 35 44 3 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777776053 1 162098857 G GT 300 PASS NOS1AP CCDS1237.1 r.? - - Ins intronic I 162098857 162098867 1 10 263.155 - - 9 1 1 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 27 27 27 0 0 ./. 1 4 1 7 52 70 52 72 1 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777777680 1 165610981 AG A 840 PASS MGST3 CCDS1249.1 r.? - - Del intronic D 165610981 165610984 1 63 750.32 - - 2 1 1 MGST3|CCDS1249.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MGST3|CCDS1249.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 22 29 22 0 0 ./. 6 8 6 10 53 44 53 44 6 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777779680 1 169644469 CG C 300 PASS - - - - - Del - D 169644469 169644471 1 12 266.767 - - 1 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 2 3 3 4 53 58 53 58 3 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777781446 1 173247399 TGCTTGGTATAGA T 406 PASS AL022310.2 ENST00000421168 r.? - - Del intronic D 173247399 173247413 12 48 749.116 - - 1 1 1 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL022310.2|ENST00000421168|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 22 13 22 0 0 ./. 3 11 3 12 34 63 34 63 3 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777781720 1 173786298 AT A 276 PASS CENPL CCDS44277.1 r.? - - Del intronic D 173786298 173786300 1 12 267.972 - - 1 1 1 CENPL|CCDS44277.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CENPL|CCDS44277.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 26 14 26 0 0 ./. 3 2 4 3 65 52 65 52 4 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777788723 1 187791170 TATTA TA 749 PASS - - - - - Complex - DI 187791171 187791174 4 56 0 - - 0 1 1 - - ./. 0 0 0 0 20 25 20 25 0 0 ./. 6 7 0 0 39 46 39 46 6 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777790009 1 190426943 CT C 956 PASS FAM5C CCDS1373.1 r.? - - Del intronic D 190426943 190426945 1 100 962.29 - - 1 1 1 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 36 23 36 23 0 0 ./. 9 9 16 10 51 40 51 40 16 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777790158 1 190732008 C CA 300 PASS - - - - - Ins - I 190732008 190732018 1 10 264.961 - - 9 1 1 - - ./. 0 0 0 0 23 20 24 20 0 0 ./. 4 1 4 1 47 44 47 44 4 1 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777790696 1 191949017 A AT 540 PASS - - - - - Ins - I 191949017 191949025 1 30 476.93 - - 7 1 1 - - ./. 0 0 0 0 24 22 24 22 0 0 ./. 4 5 5 7 43 53 44 54 5 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777791943 1 194578890 TGA T 1035 PASS - - - - - Del - D 194578890 194578893 2 91 959.881 - - 1 1 1 - - ./. 0 0 0 0 21 29 21 29 0 0 ./. 6 12 7 13 48 67 48 67 7 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777791963 1 194650595 G GA 540 PASS - - - - - Ins - I 194650595 194650604 1 28 476.93 - - 8 1 1 - - ./. 0 0 0 0 22 17 22 19 0 0 ./. 3 6 5 8 61 58 61 58 5 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777792360 1 195578416 CTT C 441 PASS - - - - - Del - D 195578416 195578419 2 24 428.755 - - 2 1 1 - - ./. 0 0 0 0 11 22 11 22 0 0 ./. 3 5 5 7 39 46 39 46 5 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777794984 1 200775930 T TATCTATCTATGCCAA 296 PASS CAMSAP1L1 CCDS1404.1 r.? - - Ins intronic I 200775930 200775941 15 20 311.944 - - 0 1 - CAMSAP1L1|CCDS1404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CAMSAP1L1|CCDS1404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 27 20 27 0 0 ./. 4 3 0 0 54 50 55 50 4 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777796961 1 203924297 GTGACCTT G 276 PASS - - - - - Del - D 203924297 203924306 7 36 535.943 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 5 6 5 25 34 25 34 6 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777798750 1 207477498 ATTGCTGTTATCCTGC A 522 PASS - - - - - Del - D 207477498 207477515 15 96 964.096 - - 1 1 1 - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 11 7 11 7 57 53 57 53 11 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777798937 1 207997306 TTC T 360 PASS C1orf132 ENST00000367039 r.? - - Del intronic D 207997306 207997322 2 15 318.556 - - 7 1 1 C1orf132|ENST00000367039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf132|ENST00000367039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 26 16 26 0 0 ./. 2 4 3 4 50 59 50 59 3 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777798951 1 208033678 TATAATAA T 464 PASS C1orf132 ENST00000367039 r.? - - Del intronic D 208033678 208033687 7 65 843.662 - - 1 1 1 C1orf132|ENST00000367039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf132|ENST00000367039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 12 26 12 0 0 ./. 12 4 16 4 68 33 68 33 16 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777799026 1 208243524 CCTTTCTTCCCAT C 551 PASS PLXNA2 CCDS31013.1 r.? - - Del intronic D 208243524 208243539 12 108 1014.08 - - 1 1 1 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 21 15 21 0 0 ./. 8 11 8 10 47 58 48 59 9 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777800365 1 210986235 GT G 960 PASS KCNH1 CCDS31015.1 r.? - - Del intronic D 210986235 210986237 1 80 857.509 - - 1 1 1 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH1|CCDS31015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 23 16 23 0 0 ./. 9 7 11 13 47 55 47 55 11 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777803079 1 215832996 G GT 960 PASS USH2A CCDS31025.1 r.? - - Ins intronic I 215832996 215833004 1 81 847.876 - - 7 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 25 23 25 0 0 ./. 8 8 12 11 62 52 63 53 12 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777803564 1 216918769 GC G 600 PASS ESRRG CCDS1517.1 r.? - - Del intronic D 216918769 216918771 1 36 535.943 - - 1 1 1 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ESRRG|CCDS1517.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 33 25 33 0 0 ./. 5 5 7 7 59 43 59 43 7 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777806474 1 222815433 CTAATG C 656 PASS MIA3 CCDS41470.1 r.? - - Del intronic D 222815433 222815441 5 56 696.124 - - 1 1 1 MIA3|CCDS41470.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIA3|CCDS41470.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 7 6 9 7 58 41 58 41 9 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777810890 1 231103373 CTATG C 420 PASS TTC13 CCDS1588.1 r.? - - Del intronic D 231103373 231103385 4 20 375.16 - - 2 1 1 TTC13|CCDS1588.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC13|CCDS1588.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 25 20 25 0 0 ./. 3 4 3 4 42 59 42 59 3 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777812085 1 233529568 AT A 1020 PASS - - - - - Del - D 233529568 233529573 1 88 911.104 - - 4 1 1 - - ./. 0 0 0 0 12 26 12 26 0 0 ./. 7 10 9 12 54 59 54 59 9 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777812501 1 234400629 AC A 780 PASS SLC35F3 CCDS1600.1 r.? - - Del intronic D 234400629 234400633 1 56 696.726 - - 3 1 1 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 22 24 22 0 0 ./. 6 7 11 11 63 48 63 48 11 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777812805 1 235004628 CAG C 660 PASS - - - - - Del - D 235004628 235004633 2 42 589.537 - - 2 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 6 5 8 5 38 42 38 42 8 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777814341 1 237067649 TG T 1349 PASS MTR CCDS1614.1 r.? - - Del downstream D 237067649 237067653 1 156 1231.47 - - 3 1 1 MTR|CCDS1614.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 MTR|CCDS1614.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 15 17 15 17 0 0 ./. 11 12 13 13 46 63 46 63 13 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777814794 1 237790988 TTTCAAGCCTGGTACAAATAGAAA T 319 PASS RYR2 ENST00000366574 r.? - - Del intronic D 237790988 237791013 23 40 589.537 - - 1 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 7 4 7 3 55 35 55 36 7 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777815630 1 239549492 TG T 997 PASS - - - - - Del - D 239549492 239549494 1 88 909.899 - - 1 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 10 7 12 7 47 28 47 28 12 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777815867 1 240050852 TTCAGAAACTTGATTTGTTGGAA T 667 PASS CHRM3 CCDS1616.1 r.? - - Del intronic D 240050852 240050876 22 150 1232.67 - - 1 1 1 CHRM3|CCDS1616.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHRM3|CCDS1616.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 21 18 21 0 0 ./. 9 14 6 13 41 59 44 60 9 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777816417 1 240831034 CTT C 449 PASS - - - - - Del - D 240831034 240831039 2 25 428.152 - - 4 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 4 6 5 45 66 45 66 6 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777817671 1 242709096 C CG 300 PASS - - - - - Ins - I 242709096 242709100 1 6 248.104 - - 3 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 0 5 1 0 24 44 25 44 1 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777817824 1 242989271 CATG C 509 PASS - - - - - Del - D 242989271 242989277 3 28 482.349 - - 1 1 1 - - ./. 0 0 0 0 18 26 18 26 0 0 ./. 6 3 7 3 47 53 47 53 7 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777818253 1 243902661 AT A 900 PASS AKT3 CCDS31077.1 r.? - - Del intronic D 243902661 243902663 1 70 803.915 - - 1 1 1 AKT3|CCDS31077.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AKT3|CCDS31077.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 24 20 24 0 0 ./. 9 6 10 7 52 47 52 47 10 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777818674 1 244674747 C CA 300 PASS C1orf101 CCDS44340.1 r.? - - Ins intronic I 244674747 244674750 1 12 264.961 - - 2 1 1 C1orf101|CCDS44340.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C1orf101|CCDS44340.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 15 19 16 0 0 ./. 3 2 3 5 50 36 51 37 3 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777819677 1 246107213 AC A 1200 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 246107213 246107215 1 121 1070.68 - - 1 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 22 31 22 0 0 ./. 10 10 18 13 64 55 64 55 18 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777822201 10 1925029 G GTT 1080 PASS - - - - - Ins - I 1925029 1925032 2 99 947.538 - - 2 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 10 8 11 9 25 22 25 22 11 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777823742 10 5510029 ACTGACTGATTTCAGCT A 319 PASS - - - - - Del - D 5510029 5510049 16 42 573.632 - - 1 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 5 6 4 6 22 25 23 25 5 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777830285 10 19742087 AC A 840 PASS C10orf112 ENST00000377266 r.? - - Del intronic D 19742087 19742090 1 60 753.832 - - 2 1 1 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf112|ENST00000377266|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 5 9 8 12 24 23 24 23 8 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777835720 10 32453429 CTTG C 660 PASS - - - - - Del - D 32453429 32453435 3 36 589.888 - - 1 1 - - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 3 8 3 9 19 31 19 31 3 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777836163 10 33364151 CT C 1080 PASS - - - - - Del - D 33364151 33364153 1 100 969.212 - - 1 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 9 9 14 13 35 31 35 31 14 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777842274 10 50930443 TGGG T 358 PASS - - - - - Del - D 50930443 50930448 3 20 376.916 - - 4 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 3 6 3 38 31 38 31 6 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777842903 10 53325390 TATCCAATGTGCAAACTAATTGTAGCC T 551 PASS PRKG1 CCDS7244.1 r.? - - Del intronic D 53325390 53325419 26 110 1023.06 - - 1 1 1 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 21 12 21 0 0 ./. 9 10 8 8 21 19 22 21 9 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777844147 10 57009281 TGGGTAA T 377 PASS PCDH15 ENST00000373957 r.? - - Del intronic D 57009281 57009290 6 54 699.986 - - 1 1 1 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 23 26 23 0 0 ./. 5 8 7 14 13 21 13 21 7 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777846788 10 64725041 A AACC 867 PASS - - - - - Ins - I 64725041 64725045 3 81 832.623 - - 1 1 1 - - ./. 0 0 0 0 23 22 23 24 0 0 ./. 8 8 10 9 20 26 20 26 10 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777847839 10 67197010 G GT 360 PASS - - - - - Ins - I 67197010 67197018 1 12 319.458 - - 7 1 1 - - ./. 0 0 0 0 27 17 28 17 0 0 ./. 1 5 2 6 20 28 20 28 2 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777847895 10 67358139 TCTTCTA T 551 PASS - - - - - Del - D 67358139 67358147 6 108 1023.06 - - 1 1 1 - - ./. 0 0 0 0 27 15 27 15 0 0 ./. 11 8 12 10 28 19 28 19 12 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777852621 10 80272603 CCAGGACCAAGGCATATCCTGGGACTTGG C 435 PASS - - - - - Del - D 80272603 80272632 28 66 804.666 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 10 5 9 3 16 6 17 8 10 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777853660 10 84207085 AGTTCCAGCACTTTGGGAGCTGAGGCAGGAGGATCTCTTGAGTCCAGGAGTTTCAGACC A 783 PASS NRG3 CCDS31233.1 r.? - - Del intronic D 84207085 84207144 58 198 1440.57 - - 1 1 1 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG3|CCDS31233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 22 22 22 0 0 ./. 10 17 0 0 7 4 17 21 10 17 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777855156 10 89653805 AT A 900 PASS PTEN ENST00000371953 r.1461delU c.104delT p.M35fs*19 Del frameshift D 89653805 89653807 1 66 807.677 - - 1 1 1 PTEN|ENST00000371953|r.1461delU|c.104delT|p.M35fs*19|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PTEN|ENST00000371953|r.1461delU|c.104delT|p.M35fs*19|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 28 21 28 21 0 0 ./. 5 10 12 17 23 23 23 23 12 17 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777867265 10 126380635 CCATTT C 676 PASS FAM53B CCDS7641.1 r.? - - Del intronic D 126380635 126380643 5 45 644.335 - - 1 1 1 FAM53B|CCDS7641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM53B|CCDS7641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 8 4 7 4 44 49 45 49 8 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777868791 10 128950795 C CTA 600 PASS DOCK1 ENST00000398025 r.? - - Ins intronic I 128950795 128950798 2 35 526.41 - - 1 1 1 DOCK1|ENST00000398025|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK1|ENST00000398025|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 24 13 24 0 0 ./. 6 4 7 5 38 34 38 35 7 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777869008 10 129344133 TC T 360 PASS NPS CCDS41577.1 r.? - - Del upstream D 129344133 129344135 1 16 323.071 - - 1 1 1 NPS|CCDS41577.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 NPS|CCDS41577.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 26 14 26 0 0 ./. 3 3 5 4 35 56 35 56 5 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777869546 10 130742867 TAC T 420 PASS - - - - - Del - D 130742867 130742883 2 18 376.314 - - 7 1 - - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 5 2 6 2 63 43 63 43 6 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777869659 10 130992515 TTC T 300 PASS - - - - - Del - D 130992515 130992534 2 12 269.226 - - 9 1 - - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 3 2 4 5 50 56 50 56 4 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777870702 10 133807325 GAAAAAC G 307 PASS - - - - - Del - D 133807325 133807335 6 40 592.296 - - 1 1 1 - - ./. 0 0 0 0 29 29 29 29 0 0 ./. 4 7 5 9 41 70 42 70 6 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777871650 11 561227 CCCGCGGCGGGGA C 348 PASS RASSF7 CCDS7702.1 r.177_188delCCGCGGCGGGGA c.? p.? Del 5'UTR variant D 561227 561243 12 49 632.563 - - 1 1 1 RASSF7|CCDS7702.1|r.177_188delCCGCGGCGGGGA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 RASSF7|CCDS7702.1|r.177_188delCCGCGGCGGGGA|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 8 37 8 37 0 0 ./. 6 6 0 0 17 29 17 29 6 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777873420 11 5242184 ATCT A 406 PASS HBB CCDS7753.1 r.? - - Del downstream D 5242184 5242191 3 32 539.177 - - 2 1 1 HBB|CCDS7753.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 HBB|CCDS7753.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 25 14 25 0 0 ./. 7 3 8 3 31 26 31 26 8 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777877791 11 16235361 TTAA T 447 PASS SOX6 CCDS7821.1 r.? - - Del intronic D 16235361 16235367 3 30 485.259 - - 1 1 1 SOX6|CCDS7821.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SOX6|CCDS7821.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 26 27 26 0 0 ./. 5 4 8 6 30 28 30 28 8 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777877914 11 16683055 T TA 360 PASS - - - - - Ins - I 16683055 16683064 1 15 319.894 - - 8 1 1 - - ./. 0 0 0 0 17 26 17 26 0 0 ./. 4 2 5 5 22 25 22 25 5 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777880260 11 22751242 TAAGGTAGATTTTATTCACATCTACCTTATTACTAGATGTGAATAAAATCTACCTTATTACTA T 261 PASS GAS2 CCDS7858.1 r.? - - Del intronic D 22751242 22751318 62 30 485.259 - - 1 1 1 GAS2|CCDS7858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAS2|CCDS7858.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 28 12 28 0 0 ./. 4 5 0 0 14 27 18 32 4 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777881003 11 24307737 TAG T 817 PASS - - - - - Del - D 24307737 24307742 2 60 754.847 - - 2 1 1 - - ./. 0 0 0 0 24 18 24 18 0 0 ./. 9 5 13 5 27 18 27 18 13 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777882942 11 29063748 TA T 540 PASS - - - - - Del - D 29063748 29063750 1 28 485.259 - - 1 1 1 - - ./. 0 0 0 0 18 28 18 28 0 0 ./. 6 3 7 3 21 25 21 25 7 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777886178 11 38336200 AC A 389 PASS - - - - - Del - D 38336200 38336202 1 20 375.015 - - 1 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 4 3 5 4 16 26 16 27 5 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777886292 11 38566730 CAAACAACCCTGTT C 319 PASS - - - - - Del - D 38566730 38566746 13 36 592.492 - - 1 1 - - - ./. 0 0 0 0 25 17 25 17 0 0 ./. 8 3 8 4 28 19 28 19 8 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777893713 11 61432502 AG A 600 PASS - - - - - Del - D 61432502 61432505 1 27 531.952 - - 2 1 1 - - ./. 0 0 0 0 9 24 9 24 0 0 ./. 2 8 4 8 17 24 17 24 4 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777893957 11 61965001 CTGTTCTTG C 290 PASS SCGB1D1 CCDS8015.1 r.? - - Del downstream D 61965001 61965014 8 36 539.177 - - 1 1 1 SCGB1D1|CCDS8015.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SCGB1D1|CCDS8015.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 22 15 22 15 0 0 ./. 5 5 5 7 23 31 23 31 5 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777894645 11 63509925 CTGA CCT 371 PASS RTN3 CCDS8050.1 r.? - - Complex intronic DI 63509926 63509928 3 18 0 - - 0 1 1 RTN3|CCDS8050.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 RTN3|CCDS8050.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 5 2 0 0 19 11 19 11 5 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777901673 11 81957922 TAATTAG T 319 PASS AP002802.1 ENST00000500502 r.? - - Del intronic D 81957922 81957929 6 42 591.89 - - 1 1 1 AP002802.1|ENST00000500502|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AP002802.1|ENST00000500502|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 20 21 20 0 0 ./. 6 5 6 6 21 18 21 18 6 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777903965 11 89095617 ATCTT A 927 PASS NOX4 CCDS8285.1 r.? - - Del intronic D 89095617 89095622 4 84 908.172 - - 1 1 1 NOX4|CCDS8285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOX4|CCDS8285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 6 11 11 13 29 25 29 25 11 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777904631 11 91156764 CAA C 1020 PASS - - - - - Del - D 91156764 91156767 2 78 915.998 - - 2 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 12 5 13 8 28 15 28 15 13 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777905871 11 94953601 AGTTAG A 807 PASS SESN3 CCDS8303.1 r.? - - Del intronic D 94953601 94953608 5 66 808.163 - - 1 1 1 SESN3|CCDS8303.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SESN3|CCDS8303.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 20 26 20 0 0 ./. 10 5 11 6 18 16 18 16 11 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777907795 11 99902968 A AT 960 PASS CNTN5 ENST00000279463 r.? - - Ins intronic I 99902968 99902971 1 77 851.846 - - 2 1 1 CNTN5|ENST00000279463|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTN5|ENST00000279463|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 6 10 6 14 19 23 20 24 6 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777913621 11 115797022 G GA 1440 PASS - - - - - Ins - I 115797022 115797024 1 169 1277.17 - - 1 1 1 - - ./. 0 0 0 0 15 23 15 24 0 0 ./. 12 12 17 13 23 23 23 23 17 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777918023 11 126280893 GTGGCGTT G 493 PASS ST3GAL4 CCDS8474.1 r.? - - Del intronic D 126280893 126280901 7 60 912.988 - - 1 1 1 ST3GAL4|CCDS8474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ST3GAL4|CCDS8474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 15 20 15 0 0 ./. 14 3 15 5 35 25 35 25 15 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777920231 11 132524584 TG T 300 PASS ENSG00000183715 CCDS8492.1 r.? - - Del intronic D 132524584 132524586 1 6 268.384 - - 1 1 1 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000183715|CCDS8492.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 20 20 20 0 0 ./. 0 5 7 12 26 38 26 38 7 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777925310 12 8749613 G GCT 300 PASS - - - - - Ins - I 8749613 8749630 2 6 262.201 - - 8 1 1 - - ./. 0 0 0 0 11 25 11 25 0 0 ./. 0 5 0 6 13 43 13 43 0 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777927140 12 12381707 AC A 780 PASS LRP6 CCDS8647.1 r.? - - Del intronic D 12381707 12381712 1 54 699.302 - - 4 1 1 LRP6|CCDS8647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP6|CCDS8647.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 11 19 11 0 0 ./. 5 8 7 11 31 31 31 31 7 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777927141 12 12382560 A ATGAAGTTGCTTAATTCAACTAGTT 261 PASS LRP6 CCDS8647.1 r.? - - Ins intronic I 12382560 12382585 24 30 354.921 - - 1 1 1 LRP6|CCDS8647.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRP6|CCDS8647.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 27 23 27 0 0 ./. 4 5 1 1 25 23 28 28 4 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777927240 12 12518872 TAGCGTGGTGGGTA T 493 PASS LOH12CR1 CCDS8649.1 r.? - - Del intronic D 12518872 12518886 13 78 910.026 - - 1 1 1 LOH12CR1|CCDS8649.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LOH12CR1|CCDS8649.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 23 19 23 0 0 ./. 12 5 12 7 33 19 33 19 12 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777928103 12 14350402 TA T 540 PASS - - - - - Del - D 14350402 14350405 1 28 484.364 - - 2 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 3 6 5 13 19 34 19 34 5 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777935309 12 31101242 GC G 1200 PASS TSPAN11 CCDS31765.1 r.? - - Del intronic D 31101242 31101247 1 117 1076.5 - - 4 1 1 TSPAN11|CCDS31765.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TSPAN11|CCDS31765.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 8 12 11 14 25 30 25 30 11 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777939632 12 43309168 TAGACCCTG T 435 PASS - - - - - Del - D 43309168 43309177 8 66 806.47 - - 1 1 1 - - ./. 0 0 0 0 29 16 29 16 0 0 ./. 5 10 6 11 27 31 27 31 6 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777941922 12 49422479 GC G 1289 PASS MLL2 CCDS44873.1 r.? - - Del intronic D 49422479 49422483 1 143 1182.46 - - 3 1 1 MLL2|CCDS44873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MLL2|CCDS44873.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 17 21 17 0 0 ./. 10 12 14 17 30 38 30 38 14 17 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777945170 12 55806434 CTGTT C 632 PASS PHC1B ENST00000326184 r.2263_2266delAACA c.2083_2086delAACA p.N695fs*3 Del frameshift D 55806434 55806441 4 60 805.266 - - 1 1 1 PHC1B|ENST00000326184|r.2263_2266delAACA|c.2083_2086delAACA|p.N695fs*3|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PHC1B|ENST00000326184|r.2263_2266delAACA|c.2083_2086delAACA|p.N695fs*3|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 23 18 23 18 0 0 ./. 4 11 4 14 13 38 13 38 4 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777947873 12 62110250 CCAGATTTTTT C 348 PASS FAM19A2 CCDS8962.1 r.? - - Del intronic D 62110250 62110261 10 49 646.621 - - 1 1 1 FAM19A2|CCDS8962.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM19A2|CCDS8962.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 6 6 8 6 29 30 29 30 8 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777950249 12 67776539 C CT 569 PASS - - - - - Ins - I 67776539 67776548 1 27 528.616 - - 8 1 1 - - ./. 0 0 0 0 22 36 22 36 0 0 ./. 2 8 2 10 16 46 16 46 2 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777950290 12 67920469 TG T 960 PASS - - - - - Del - D 67920469 67920471 1 81 861.56 - - 1 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 8 8 8 10 31 27 31 27 8 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777950908 12 69437886 AT A 300 PASS - - - - - Del - D 69437886 69437895 1 12 269.426 - - 8 1 - - - ./. 0 0 0 0 24 28 24 28 0 0 ./. 3 2 6 3 39 30 39 30 6 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777953381 12 75484733 C CA 749 PASS KCNC2 CCDS9005.1 r.? - - Ins intronic I 75484733 75484736 1 50 692.68 - - 2 1 1 KCNC2|CCDS9005.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNC2|CCDS9005.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 4 9 6 12 25 28 25 28 6 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777953630 12 76302754 C CA 840 PASS - - - - - Ins - I 76302754 76302756 1 63 745.963 - - 1 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 6 8 9 12 27 30 27 31 9 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777958182 12 89944537 TAC T 300 PASS - - - - - Del - D 89944537 89944554 2 10 269.426 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 1 4 1 37 36 37 36 4 1 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777958523 12 90886491 TCAG T 447 PASS - - - - - Del - D 90886491 90886495 3 28 484.966 - - 1 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 6 3 9 6 23 34 23 34 9 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777961082 12 96250639 C CA 960 PASS SNRPF CCDS9055.1 r.? - - Ins upstream I 96250639 96250648 1 65 852.529 - - 8 1 1 SNRPF|CCDS9055.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SNRPF|CCDS9055.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 17 31 17 31 0 0 ./. 12 4 15 7 33 21 33 21 15 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777963624 12 102827089 G GA 1020 PASS IGF1 CCDS44961.1 r.? - - Ins intronic I 102827089 102827097 1 88 905.21 - - 7 1 1 IGF1|CCDS44961.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IGF1|CCDS44961.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 23 15 23 0 0 ./. 7 10 10 14 27 35 27 35 10 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777968897 12 116892310 TAGCCTC T 290 PASS - - - - - Del - D 116892310 116892317 6 35 538.851 - - 1 1 1 - - ./. 0 0 0 0 25 9 25 9 0 0 ./. 6 4 7 5 23 29 23 29 7 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777972237 12 123465806 AT A 660 PASS ARL6IP4 CCDS31923.1 r.545delU c.490delT p.S164fs*81 Del frameshift D 123465806 123465808 1 42 592.134 - - 1 1 1 ARL6IP4|CCDS31923.1|r.545delU|c.490delT|p.S164fs*81|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ARL6IP4|CCDS31923.1|r.545delU|c.490delT|p.S164fs*81|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 17 24 17 24 0 0 ./. 5 6 9 7 44 33 44 33 9 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777972562 12 124025649 CT C 480 PASS - - - - - Del - D 124025649 124025651 1 16 431.081 - - 1 1 1 - - ./. 0 0 0 0 17 6 17 6 0 0 ./. 7 1 10 3 37 20 37 20 10 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777972768 12 124523398 AT A 360 PASS - - - - - Del - D 124523398 124523408 1 12 323.311 - - 9 1 1 - - ./. 0 0 0 0 24 13 24 13 0 0 ./. 1 5 3 6 24 21 24 21 3 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777974092 12 127769025 CT C 840 PASS - - - - - Del - D 127769025 127769027 1 63 754.391 - - 1 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 6 8 7 9 38 27 38 27 7 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777974591 12 128824532 A AT 420 PASS - - - - - Ins - I 128824532 128824539 1 14 372.981 - - 6 1 1 - - ./. 0 0 0 0 25 25 25 25 0 0 ./. 6 1 11 2 38 23 38 23 11 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777983189 13 36269932 AC A 1320 PASS - - - - - Del - D 36269932 36269934 1 128 1189.86 - - 1 1 1 - - ./. 0 0 0 0 23 23 23 23 0 0 ./. 7 15 7 17 15 23 15 23 7 17 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777983922 13 38446846 TA T 840 PASS TRPC4 CCDS45037.1 r.? - - Del upstream D 38446846 38446850 1 60 757.568 - - 3 1 1 TRPC4|CCDS45037.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TRPC4|CCDS45037.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 22 17 22 0 0 ./. 9 5 14 6 21 7 21 7 14 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777985166 13 42043220 ACCCAAT A 377 PASS C13orf15 CCDS41880.1 r.? - - Del intronic D 42043220 42043228 6 50 702.854 - - 1 1 1 C13orf15|CCDS41880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C13orf15|CCDS41880.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 27 16 27 0 0 ./. 4 9 5 11 11 20 12 20 6 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777986123 13 45081416 AGAGGTAAGAATAAC A 435 PASS TSC22D1 CCDS31966.1 r.? - - Del intronic D 45081416 45081432 14 72 811.078 - - 1 1 1 TSC22D1|CCDS31966.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSC22D1|CCDS31966.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 21 23 21 0 0 ./. 7 8 7 9 14 19 14 19 7 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777990813 13 60292876 ACTGTCATTTGTTAAATCCTTTTG A 464 PASS DIAPH3 CCDS41898.1 r.? - - Del intronic D 60292876 60292900 23 80 863.383 - - 1 1 1 DIAPH3|CCDS41898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIAPH3|CCDS41898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 17 23 17 0 0 ./. 7 9 5 9 15 13 17 13 7 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777991899 13 63719050 TA T 720 PASS - - - - - Del - D 63719050 63719054 1 49 649.344 - - 3 1 1 - - ./. 0 0 0 0 19 31 19 31 0 0 ./. 6 6 10 8 24 17 24 17 10 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2777992696 13 66674791 T TA 960 PASS - - - - - Ins - I 66674791 66674793 1 72 853.75 - - 1 1 1 - - ./. 0 0 0 0 23 24 24 24 0 0 ./. 5 11 6 12 18 31 18 31 6 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778007639 13 111972896 TC T 1049 PASS C13orf16 CCDS9522.1 r.? - - Del upstream D 111972896 111972899 1 99 972.811 - - 2 1 1 C13orf16|CCDS9522.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C13orf16|CCDS9522.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 17 17 17 17 0 0 ./. 10 8 15 10 21 19 21 19 15 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778007932 13 113157683 G GTTGTTGTT 493 PASS TUBGCP3 CCDS9525.1 r.? - - Ins intronic I 113157683 113157703 8 90 834.411 - - 2 1 - TUBGCP3|CCDS9525.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TUBGCP3|CCDS9525.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 27 28 27 0 0 ./. 8 9 6 7 31 27 32 28 8 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778015951 14 35723588 C CTTGT 329 PASS KIAA0391 CCDS32063.1 r.? - - Ins intronic I 35723588 35723615 4 16 309.888 - - 6 1 - KIAA0391|CCDS32063.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA0391|CCDS32063.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 35 20 35 0 0 ./. 3 3 3 4 46 42 46 42 3 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778017063 14 38080884 AG A 600 PASS - - - - - Del - D 38080884 38080890 1 27 538.756 - - 5 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 8 2 11 5 33 44 33 44 11 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778017986 14 40184686 G GA 300 PASS - - - - - Ins - I 40184686 40184696 1 12 267.271 - - 9 1 1 - - ./. 0 0 0 0 18 31 18 31 0 0 ./. 2 3 3 3 42 37 42 38 3 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778018448 14 41370330 G GAA 989 PASS - - - - - Ins - I 41370330 41370339 2 88 897.281 - - 8 1 1 - - ./. 0 0 0 0 20 24 21 24 0 0 ./. 10 7 14 15 42 49 42 49 14 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778018998 14 42526552 C CT 480 PASS - - - - - Ins - I 42526552 42526560 1 25 427.633 - - 7 1 1 - - ./. 0 0 0 0 29 21 29 21 0 0 ./. 4 4 6 8 32 42 32 42 6 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778019771 14 44406256 C CA 1589 PASS - - - - - Ins - I 44406256 44406259 1 210 1437.84 - - 2 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 14 13 16 19 33 34 33 34 16 19 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778019838 14 44580431 T TTC 298 PASS - - - - - Ins - I 44580431 44580432 2 12 296.04 - - 0 1 - - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 1 5 1 0 41 19 42 19 2 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778020843 14 47526158 AATTTTT A 261 PASS MDGA2 CCDS41948.1 r.? - - Del intronic D 47526158 47526165 6 30 486.506 - - 1 1 1 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDGA2|CCDS41948.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 24 30 24 0 0 ./. 5 4 7 4 30 17 30 17 7 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778021770 14 49994110 TA T 1560 PASS - - - - - Del - D 49994110 49994112 1 187 1405.46 - - 1 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 16 10 21 13 29 22 29 22 21 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778025517 14 57194064 T TG 300 PASS - - - - - Ins - I 57194064 57194066 1 6 243.188 - - 1 1 - - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 0 5 1 4 100 62 100 62 1 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778029572 14 67571735 ATAGGTTTT A 667 PASS GPHN CCDS9777.1 r.? - - Del intronic D 67571735 67571745 8 156 1243.29 - - 1 1 1 GPHN|CCDS9777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPHN|CCDS9777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 31 22 31 0 0 ./. 11 12 13 13 23 25 24 25 14 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778034769 14 80388095 GTTCTTGTTCTTCTTCTTCTTCTTC G 278 PASS - - - - - Del - D 80388095 80388125 24 16 324.337 - - 1 1 - - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 3 3 0 0 14 26 14 26 3 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778037443 14 88214553 G GT 300 PASS - - - - - Ins - I 88214553 88214560 1 10 266.669 - - 6 1 1 - - ./. 0 0 0 0 25 17 25 18 0 0 ./. 4 1 4 2 27 19 27 19 4 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778042097 14 100850859 ATGG A 1043 PASS WDR25 CCDS32157.1 r.? - - Del intronic D 100850859 100850865 3 120 1125.55 - - 1 1 1 WDR25|CCDS32157.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR25|CCDS32157.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 14 7 17 10 24 19 24 19 17 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778042259 14 101460870 AT A 1200 PASS SNORD114-31 ENST00000363219 r.? - - Del downstream D 101460870 101460873 1 120 1080.52 - - 2 1 1 SNORD114-31|ENST00000363219|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 SNORD114-31|ENST00000363219|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 17 15 17 15 0 0 ./. 9 11 12 15 26 28 26 28 12 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778047350 15 23851287 GTGAGC G 416 PASS - - - - - Del - D 23851287 23851293 5 30 481.069 - - 1 1 1 - - ./. 0 0 0 0 14 23 14 23 0 0 ./. 4 5 4 6 17 22 17 22 4 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778049843 15 29855547 C CT 629 PASS FAM189A1 CCDS45198.1 r.? - - Ins intronic I 29855547 29855556 1 36 577.136 - - 8 1 1 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM189A1|CCDS45198.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 25 23 25 0 0 ./. 3 8 7 12 31 36 33 36 7 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778050040 15 30213045 TTAAAACAC T 580 PASS - - - - - Del - D 30213045 30213055 8 121 1079.88 - - 1 1 1 - - ./. 0 0 0 0 13 26 13 26 0 0 ./. 10 10 10 11 30 30 30 30 10 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778050721 15 32169934 A AT 780 PASS - - - - - Ins - I 32169934 32169943 1 56 694.878 - - 8 1 1 - - ./. 0 0 0 0 28 23 28 23 0 0 ./. 6 7 10 10 41 34 42 34 10 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778051209 15 33446736 GCCAGGCT G 365 PASS FMN1 ENST00000414268 r.373_379delAGCCUGG c.373_379delAGCCTGG p.S125fs*64 Del frameshift D 33446736 33446745 7 54 701.5 - - 1 1 1 FMN1|ENST00000414268|r.373_379delAGCCUGG|c.373_379delAGCCTGG|p.S125fs*64|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 FMN1|ENST00000414268|r.373_379delAGCCUGG|c.373_379delAGCCTGG|p.S125fs*64|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 21 19 21 19 0 0 ./. 5 8 6 9 26 22 26 22 6 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778056193 15 44149147 TATAGAAATG T 580 PASS WDR76 CCDS10106.1 r.1266_1274delAUAGAAAUG c.1196_1204delATAGAAATG p.Y399_E402delins* Del nonsense D 44149147 44149158 9 105 1078.07 - - 1 1 1 WDR76|CCDS10106.1|r.1266_1274delAUAGAAAUG|c.1196_1204delATAGAAATG|p.Y399_E402delins*|protein_coding:CDS:exon:deletion:inframe_variant:stop_gained:indel|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001587:SO:1000032 WDR76|CCDS10106.1|r.1266_1274delAUAGAAAUG|c.1196_1204delATAGAAATG|p.Y399_E402delins*|protein_coding:CDS:exon:deletion:inframe_variant:stop_gained:indel|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001587:SO:1000032 ./. 0 0 0 0 21 15 21 15 0 0 ./. 14 6 14 6 38 23 38 23 14 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778057979 15 48557673 C CT 540 PASS SLC12A1 CCDS10129.2 r.? - - Ins intronic I 48557673 48557682 1 30 481.069 - - 8 1 1 SLC12A1|CCDS10129.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC12A1|CCDS10129.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 19 20 19 0 0 ./. 5 4 8 5 41 25 41 25 8 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778058513 15 50042492 GATACCTGGTCCACCACAAAGATTCTGCTATAGTAGTACAAAGTGAGACCTAGGAATTATAAAACATTTCTGATGCCAAGCCAGGGTCAGGAGCCTTAGACATAA G 493 PASS - - - - - Del - D 50042492 50042598 104 90 917.717 - - 1 1 1 - - ./. 0 0 0 0 12 23 12 23 0 0 ./. 8 9 0 0 13 24 21 33 8 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778058781 15 50641182 ACTATAAAATACC A 290 PASS GABPB1 CCDS32239.1 r.? - - Del intronic D 50641182 50641195 12 35 540.542 - - 1 1 1 GABPB1|CCDS32239.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GABPB1|CCDS32239.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 18 22 18 0 0 ./. 4 6 4 6 29 40 29 40 4 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778061628 15 56613134 TATGC T 985 PASS - - - - - Del - D 56613134 56613142 4 110 1026.43 - - 1 1 1 - - ./. 0 0 0 0 23 22 23 22 0 0 ./. 9 10 12 10 31 37 31 37 12 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778063363 15 60122411 CCT C 840 PASS - - - - - Del - D 60122411 60122417 2 60 756.759 - - 2 1 1 - - ./. 0 0 0 0 21 13 21 13 0 0 ./. 9 5 11 7 35 23 35 23 11 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778064571 15 62928214 TG T 780 PASS AC100839.1 ENST00000508975 r.? - - Del downstream D 62928214 62928219 1 56 701.5 - - 4 1 1 AC100839.1|ENST00000508975|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 AC100839.1|ENST00000508975|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 19 16 19 16 0 0 ./. 6 7 7 10 22 30 22 30 7 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778067502 15 68321496 C CT 360 PASS - - - - - Ins - I 68321496 68321506 1 15 319.509 - - 9 1 1 - - ./. 0 0 0 0 26 36 26 37 0 0 ./. 4 2 8 5 32 34 34 35 8 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778068033 15 69427890 AT A 1020 PASS - - - - - Del - D 69427890 69427895 1 78 918.922 - - 4 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 12 5 13 9 33 24 33 24 13 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778068883 15 71782364 A AT 294 PASS THSD4 CCDS10238.2 r.? - - Ins intronic I 71782364 71782374 1 12 266.057 - - 9 1 1 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 23 27 23 0 0 ./. 3 2 3 2 32 31 32 31 3 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778075398 15 87187284 AT A 960 PASS AGBL1 ENST00000421325 r.? - - Del intronic D 87187284 87187288 1 80 864.867 - - 3 1 1 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGBL1|ENST00000421325|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 24 16 24 0 0 ./. 7 9 11 11 29 27 29 27 11 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778077152 15 91279504 C CT 300 PASS BLM CCDS10363.1 r.? - - Ins intronic I 91279504 91279514 1 12 266.659 - - 9 1 1 BLM|CCDS10363.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BLM|CCDS10363.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 27 26 27 0 0 ./. 3 2 4 2 40 44 41 45 4 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778079655 15 96916030 TTTG T 569 PASS - - - - - Del - D 96916030 96916037 3 35 538.736 - - 2 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 6 5 9 32 31 32 31 5 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778079773 15 97285155 TATCTG T 958 PASS - - - - - Del - D 97285155 97285162 5 90 918.319 - - 1 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 8 9 9 10 25 29 25 29 9 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778083392 16 2550423 GC G 1229 PASS TBC1D24 CCDS42107.1 r.1580delC c.1440delC p.H481fs*36 Del frameshift D 2550423 2550426 1 126 1086.79 - - 2 1 1 TBC1D24|CCDS42107.1|r.1580delC|c.1440delC|p.H481fs*36|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 TBC1D24|CCDS42107.1|r.1580delC|c.1440delC|p.H481fs*36|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 16 15 16 15 0 0 ./. 8 13 15 15 33 30 33 30 15 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778085428 16 6265332 AG A 420 PASS - - - - - Del - D 6265332 6265338 1 20 370.292 - - 5 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 4 3 6 4 29 28 29 28 6 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778090704 16 15329991 G GGT 311 PASS - - - - - Ins - I 15329991 15329992 2 11 516.69 - - 0 1 - - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 0 10 0 2 10 27 10 27 0 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778092450 16 18928907 A AT 300 PASS SMG1 CCDS45430.1 r.? - - Ins intronic I 18928907 18928917 1 6 267.075 - - 9 1 1 SMG1|CCDS45430.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMG1|CCDS45430.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 20 19 21 0 0 ./. 5 0 5 0 37 39 37 39 5 0 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778094916 16 23546288 GA G 780 PASS EARS2 CCDS42132.1 r.910delU c.878delT p.F293fs*38 Del frameshift D 23546288 23546293 1 56 698.007 - - 4 1 1 EARS2|CCDS42132.1|r.910delU|c.878delT|p.F293fs*38|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 EARS2|CCDS42132.1|r.910delU|c.878delT|p.F293fs*38|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 14 10 14 10 0 0 ./. 7 6 10 10 37 44 37 44 10 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778103537 16 48255312 GAGT G 838 PASS ABCC11 CCDS10732.1 r.? - - Del intronic D 48255312 48255316 3 72 801.827 - - 1 1 1 ABCC11|CCDS10732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCC11|CCDS10732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 11 22 11 0 0 ./. 7 8 11 10 91 70 91 70 11 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778104552 16 50066587 CAG C 298 PASS TMEM188 CCDS45480.1 r.? - - Del intronic D 50066587 50066592 2 12 324.102 - - 2 1 1 TMEM188|CCDS45480.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM188|CCDS45480.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 5 1 5 3 52 59 52 59 5 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778106043 16 52871586 TA T 1860 PASS ENSG00000227450 ENST00000430771 r.? - - Del intronic D 52871586 52871588 1 260 1667.91 - - 1 1 1 ENSG00000227450|ENST00000430771|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000227450|ENST00000430771|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 28 31 28 0 0 ./. 19 12 25 17 121 127 121 127 25 17 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778107059 16 54097389 TGTTACTGTTATTATGCA T 870 PASS FTO CCDS32448.1 r.? - - Del intronic D 54097389 54097408 17 252 1620.51 - - 1 1 1 FTO|CCDS32448.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FTO|CCDS32448.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 17 13 17 13 90 92 90 92 17 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778116054 16 79287258 CT C 1080 PASS - - - - - Del - D 79287258 79287261 1 96 968.694 - - 2 1 1 - - ./. 0 0 0 0 21 25 21 25 0 0 ./. 7 11 9 15 15 23 15 23 9 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778119096 16 88534186 CT C 689 PASS ZFPM1 CCDS32502.1 r.? - - Del intronic D 88534186 88534190 1 24 645.796 - - 3 1 1 ZFPM1|CCDS32502.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFPM1|CCDS32502.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 1 11 5 16 10 25 10 25 5 16 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778119542 16 89785019 CAA C 687 PASS ZNF276 CCDS45554.1 r.? - - Del upstream D 89785019 89785022 2 54 701.619 - - 2 1 1 ZNF276|CCDS45554.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 C16orf7|CCDS42220.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 8 5 13 8 21 14 21 14 13 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778120315 17 1340082 ACCT A 958 PASS CRK CCDS11002.1 r.747_749delAGG c.606_608delAGG p.G203delG Del inframe D 1340082 1340088 3 78 914.005 - - 1 1 1 CRK|CCDS11002.1|r.747_749delAGG|c.606_608delAGG|p.G203delG|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 CRK|CCDS45561.1|r.712_713+1delAGg|c.606_607+1delAGg|p.?|protein_coding:CDS:exon:extended_cis_splice_site:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:0000147:SO:CGPX06:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 12 18 12 18 0 0 ./. 5 12 6 17 11 21 11 21 6 17 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778121089 17 3035079 CT C 1109 PASS OR1G1 CCDS11020.1 r.? - - Del upstream D 3035079 3035084 1 108 1017.14 - - 4 1 1 OR1G1|CCDS11020.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 OR1G1|CCDS11020.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 16 17 16 17 0 0 ./. 11 8 14 11 22 16 22 16 14 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778125746 17 14284463 AT A 360 PASS - - - - - Del - D 14284463 14284473 1 15 323.865 - - 9 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 4 2 5 2 23 23 23 23 5 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778126280 17 16040837 AAAAGAAC A 551 PASS NCOR1 CCDS11175.1 r.? - - Del intronic D 16040837 16040847 7 98 1024.97 - - 1 1 1 NCOR1|CCDS11175.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCOR1|CCDS11175.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 16 22 16 0 0 ./. 13 6 16 7 26 11 26 11 16 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778131948 17 29480248 TTTA T 1076 PASS NF1 CCDS42292.1 r.? - - Del intronic D 29480248 29480254 3 112 1079.55 - - 1 1 1 NF1|CCDS42292.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NF1|CCDS42292.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 7 13 8 15 31 48 31 48 8 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778133328 17 31595533 AG A 420 PASS ACCN1 CCDS11276.1 r.? - - Del intronic D 31595533 31595535 1 14 377.842 - - 1 1 1 ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS11276.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 1 6 6 13 44 50 44 50 6 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778133524 17 32139789 TAGACCTAGGACAGATTCCATTTCCTTAG T 348 PASS ACCN1 CCDS42296.1 r.? - - Del intronic D 32139789 32139818 28 48 647.73 - - 1 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 18 24 18 0 0 ./. 5 7 6 4 41 40 41 43 6 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778133848 17 33110515 C CA 420 PASS - - - - - Ins - I 33110515 33110525 1 18 370.618 - - 9 1 - - - ./. 0 0 0 0 22 29 23 29 0 0 ./. 5 2 10 10 45 62 46 63 10 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778134958 17 35339216 AATATATT A 609 PASS AATF CCDS32632.1 r.? - - Del intronic D 35339216 35339224 7 120 1132.32 - - 1 1 1 AATF|CCDS32632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AATF|CCDS32632.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 19 26 19 0 0 ./. 14 7 16 7 46 30 46 30 16 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778135533 17 36178941 GT G 600 PASS - - - - - Del - D 36178941 36178943 1 36 536.162 - - 1 1 1 - - ./. 0 0 0 0 20 26 20 26 0 0 ./. 5 5 9 12 32 47 32 47 9 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778137623 17 39113401 G GT 300 PASS KRT39 CCDS11382.1 r.? - - Ins downstream I 39113401 39113411 1 12 265.673 - - 9 1 1 KRT39|CCDS11382.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 KRT39|CCDS11382.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 27 24 27 24 0 0 ./. 2 3 3 3 46 58 49 58 3 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778137887 17 39727804 AC A 600 PASS KRT9 CCDS32654.1 r.506delG c.440delG p.G147fs*3 Del frameshift D 39727804 39727807 1 32 538.571 - - 2 1 - KRT9|CCDS32654.1|r.506delG|c.440delG|p.G147fs*3|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 KRT9|CCDS32654.1|r.506delG|c.440delG|p.G147fs*3|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 16 11 16 11 0 0 ./. 7 3 10 5 31 33 31 33 10 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778140881 17 43440563 CATG C 1020 PASS - - - - - Del - D 43440563 43440569 3 70 915.209 - - 1 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 4 13 6 15 51 87 51 87 6 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778145638 17 50504204 T TA 420 PASS - - - - - Ins - I 50504204 50504213 1 20 373.628 - - 8 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 4 3 6 3 42 40 43 40 6 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778147819 17 55248461 AG A 749 PASS - - - - - Del - D 55248461 55248464 1 56 688.462 - - 2 1 1 - - ./. 0 0 0 0 10 24 10 24 0 0 ./. 6 7 8 9 27 48 27 48 8 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778150895 17 59974107 T TA 840 PASS INTS2 CCDS45750.1 r.? - - Ins intronic I 59974107 59974117 1 64 745.45 - - 9 1 1 INTS2|CCDS45750.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 INTS2|CCDS45750.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 31 26 31 0 0 ./. 7 7 11 12 48 49 49 50 11 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778153387 17 64107115 TAAAC T 567 PASS CCDC46 CCDS32710.1 r.? - - Del intronic D 64107115 64107123 4 42 593.752 - - 1 1 1 CCDC46|CCDS32710.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC46|CCDS32710.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 29 22 29 0 0 ./. 6 5 7 5 42 45 42 45 7 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778158753 17 73184897 ATGAATTGAAACTATCAGCTGGT A 363 PASS - - - - - Del - D 73184897 73184922 22 54 701.707 - - 1 1 - - - ./. 0 0 0 0 28 17 28 17 0 0 ./. 8 5 7 5 50 28 51 28 8 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778160408 17 75304308 CTG C 1109 PASS SEPT9 CCDS45790.1 r.? - - Del intronic D 75304308 75304313 2 110 1019.55 - - 2 1 1 SEPT9|CCDS45790.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEPT9|CCDS45790.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 23 23 23 0 0 ./. 9 10 13 12 43 43 43 43 13 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778160628 17 75693141 CAGCTTCCCCA C 365 PASS - - - - - Del - D 75693141 75693152 10 54 701.707 - - 1 1 1 - - ./. 0 0 0 0 20 6 20 6 0 0 ./. 5 8 7 9 48 37 48 37 7 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778161262 17 76672941 TGCC T 1283 PASS CYTH1 CCDS42392.2 r.? - - Del intronic D 76672941 76672945 3 180 1349.44 - - 1 1 1 CYTH1|CCDS42392.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYTH1|CCDS42392.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 29 18 29 0 0 ./. 11 14 13 24 47 70 47 70 13 24 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778162338 17 78647287 TCAAA T 629 PASS RPTOR CCDS11773.1 r.? - - Del intronic D 78647287 78647294 4 40 593.15 - - 1 1 1 RPTOR|CCDS11773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RPTOR|CCDS11773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 23 20 23 0 0 ./. 7 4 9 5 40 45 40 45 9 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778166016 18 4125537 GGAATAGTGGAGACTCAA G 319 PASS - - - - - Del - D 4125537 4125557 17 22 594.766 - - 1 1 1 - - ./. 0 0 0 0 21 30 21 30 0 0 ./. 1 10 1 10 24 35 24 35 1 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778167119 18 7422218 C CA 418 PASS - - - - - Ins - I 7422218 7422225 1 21 428.179 - - 6 1 1 - - ./. 0 0 0 0 22 21 22 21 0 0 ./. 6 2 7 2 26 11 26 11 7 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778170795 18 18822999 AGCAT A 447 PASS GREB1L CCDS45836.1 r.? - - Del intronic D 18822999 18823005 4 28 487.12 - - 1 1 1 GREB1L|CCDS45836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GREB1L|CCDS45836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 6 3 10 4 41 25 41 25 10 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778177182 18 37164784 GT G 1320 PASS AC105201.1 ENST00000510201 r.? - - Del intronic D 37164784 37164788 1 119 1186.52 - - 3 1 1 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC105201.1|ENST00000510201|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 27 20 27 0 0 ./. 6 16 7 16 17 31 17 31 7 16 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778181989 18 51039637 AT A 345 PASS DCC CCDS11952.1 r.? - - Del intronic D 51039637 51039643 1 15 757.14 - - 5 1 1 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCC|CCDS11952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 23 25 23 0 0 ./. 14 0 14 0 40 21 41 21 15 0 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778183901 18 55945689 TA T 840 PASS NEDD4L CCDS45872.1 r.? - - Del intronic D 55945689 55945692 1 60 754.13 - - 2 1 1 NEDD4L|CCDS45872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEDD4L|CCDS45872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 25 17 25 0 0 ./. 5 9 9 12 26 25 26 25 9 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778185837 18 60975092 CTTGTGGTTTCAT C 261 PASS BCL2 CCDS11981.1 r.? - - Del intronic D 60975092 60975106 12 28 487.12 - - 1 1 1 BCL2|CCDS11981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCL2|CCDS11981.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 29 23 29 0 0 ./. 3 6 2 6 23 31 24 31 3 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778185923 18 61149329 CT C 600 PASS SERPINB5 CCDS32839.1 r.? - - Del intronic D 61149329 61149335 1 27 541.244 - - 5 1 1 SERPINB5|CCDS32839.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SERPINB5|CCDS32839.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 8 3 8 25 43 25 43 3 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778186746 18 63281674 T TA 300 PASS - - - - - Ins - I 63281674 63281682 1 10 267.612 - - 7 1 1 - - ./. 0 0 0 0 22 10 22 10 0 0 ./. 4 1 7 2 26 12 26 12 7 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778189110 18 69186841 GAATA G 269 PASS - - - - - Del - D 69186841 69186847 4 12 270.622 - - 1 1 1 - - ./. 0 0 0 0 16 32 16 32 0 0 ./. 3 2 4 2 19 31 19 31 4 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778189695 18 70606489 ATG A 1080 PASS - - - - - Del - D 70606489 70606493 2 99 973.637 - - 1 1 1 - - ./. 0 0 0 0 26 21 26 21 0 0 ./. 8 10 9 14 28 32 28 32 9 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778191203 18 74656879 CAG C 329 PASS ZNF236 CCDS42447.1 r.? - - Del intronic D 74656879 74656887 2 15 324.746 - - 3 1 1 ZNF236|CCDS42447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF236|CCDS42447.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 4 2 5 4 33 23 33 23 5 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778197719 19 11560804 CGCCGCCA C 290 PASS ELAVL3 CCDS32912.1 r.? - - Del downstream D 11560804 11560812 7 36 536.101 - - 1 1 1 ELAVL3|CCDS32912.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PRKCSH|CCDS32911.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 31 8 31 0 0 ./. 5 5 6 6 13 13 13 13 6 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778201464 19 20182280 T TA 360 PASS ZNF90 ENST00000427401 r.? - - Ins intronic I 20182280 20182289 1 15 321.299 - - 8 1 1 ZNF90|ENST00000427401|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF90|ENST00000427401|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 19 23 19 0 0 ./. 2 4 2 5 26 22 26 22 2 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778207403 19 36857015 C CA 269 PASS ZFP14 CCDS33002.1 r.? - - Ins intronic I 36857015 36857022 1 12 267.749 - - 6 1 1 ZFP14|CCDS33002.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFP14|CCDS33002.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 6 4 33 28 33 28 6 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778207513 19 36992053 T TTG 269 PASS AC092296.3 ENST00000500282 r.? - - Ins intronic I 36992053 36992055 2 6 243.667 - - 0 1 - AC092296.3|ENST00000500282|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC092296.3|ENST00000500282|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 5 0 0 1 21 26 21 26 5 1 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778209244 19 40376631 G GA 434 PASS FCGBP CCDS12546.1 r.11798_11799insu c.11790_11791insT p.P3931fs*36 Ins frameshift I 40376631 40376633 1 42 587.243 - - 1 1 1 FCGBP|CCDS12546.1|r.11798_11799insu|c.11790_11791insT|p.P3931fs*36|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 FCGBP|CCDS12546.1|r.11798_11799insu|c.11790_11791insT|p.P3931fs*36|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 33 25 36 26 0 0 ./. 6 5 10 10 39 43 41 44 10 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778211511 19 45491915 GGT G 300 PASS CLPTM1 CCDS12651.1 r.? - - Del intronic D 45491915 45491918 2 12 270.76 - - 1 1 1 CLPTM1|CCDS12651.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLPTM1|CCDS12651.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 2 3 6 5 32 22 32 22 6 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778213997 19 49745019 CA C 600 PASS - - - - - Del - D 49745019 49745028 1 32 541.519 - - 8 1 1 - - ./. 0 0 0 0 21 24 21 24 0 0 ./. 7 3 10 10 24 24 24 24 10 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778221188 2 5984766 TTTTAAAGGGA T 580 PASS - - - - - Del - D 5984766 5984779 10 120 1073.48 - - 1 1 1 - - ./. 0 0 0 0 24 28 24 28 0 0 ./. 9 11 9 12 22 31 22 31 9 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778221863 2 7895308 CA C 780 PASS - - - - - Del - D 7895308 7895311 1 44 697.161 - - 2 1 1 - - ./. 0 0 0 0 17 35 17 35 0 0 ./. 3 10 12 14 38 33 38 33 12 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778229085 2 26006140 GTTCAATTTTTGTGTACTGTA G 406 PASS ASXL2 ENST00000435504 r.? - - Del intronic D 26006140 26006163 20 64 751.437 - - 1 1 1 ASXL2|ENST00000435504|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASXL2|ENST00000435504|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 22 26 22 0 0 ./. 7 7 6 7 21 18 22 18 7 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778245407 2 68205484 GTCATTCCTTTGTCACTGCCTAAACATCTTCAACAAGGTACCCTTGTTATTAAGATAAAATCAGAAATTCTAATGGTGTACA G 290 PASS - - - - - Del - D 68205484 68205566 81 32 536.741 - - 1 1 1 - - ./. 0 0 0 0 22 19 22 19 0 0 ./. 7 3 0 0 15 15 25 19 7 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778256510 2 102854400 AG A 360 PASS IL1RL2 CCDS2056.1 r.? - - Del intronic D 102854400 102854402 1 12 319.034 - - 1 1 1 IL1RL2|CCDS2056.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RL2|CCDS2056.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 5 1 7 1 21 18 21 18 7 1 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778262903 2 121874123 TC T 1020 PASS - - - - - Del - D 121874123 121874125 1 84 912.46 - - 1 1 1 - - ./. 0 0 0 0 26 16 26 16 0 0 ./. 6 11 8 14 22 28 22 28 8 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778263586 2 123988083 CTTGATTAGCT C 290 PASS - - - - - Del - D 123988083 123988095 10 36 536.139 - - 1 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 5 5 5 5 25 22 25 23 5 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778266042 2 130972068 TA T 851 PASS - - - - - Del - D 130972068 130972071 1 150 1234.5 - - 2 1 1 - - ./. 0 0 0 0 18 24 18 24 0 0 ./. 14 9 18 12 31 30 31 30 18 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778275095 2 156530626 C CA 960 PASS - - - - - Ins - I 156530626 156530633 1 77 849.153 - - 6 1 1 - - ./. 0 0 0 0 24 21 24 21 0 0 ./. 6 10 9 13 28 27 28 27 9 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778279208 2 168940203 AT A 629 PASS STK39 CCDS42770.1 r.? - - Del intronic D 168940203 168940205 1 42 589.211 - - 1 1 1 STK39|CCDS42770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK39|CCDS42770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 15 29 15 0 0 ./. 6 5 8 6 26 25 26 25 8 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778281506 2 173818904 GT G 780 PASS RAPGEF4 CCDS42775.1 r.? - - Del intronic D 173818904 173818908 1 54 697.161 - - 3 1 1 RAPGEF4|CCDS42775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAPGEF4|CCDS42775.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 5 8 6 9 25 30 25 30 6 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778282770 2 177406434 A AAAAC 267 PASS - - - - - Ins - I 177406434 177406466 4 12 307.595 - - 7 1 - - - ./. 0 0 0 0 20 22 21 22 0 0 ./. 5 1 7 2 23 37 23 37 7 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778282827 2 177592237 AC A 540 PASS - - - - - Del - D 177592237 177592239 1 30 483.067 - - 1 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 4 5 7 10 29 37 29 37 7 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778284626 2 183059484 CATTT C 447 PASS PDE1A CCDS2285.1 r.? - - Del intronic D 183059484 183059490 4 24 483.067 - - 1 1 1 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 24 17 24 0 0 ./. 7 2 8 3 26 26 26 26 8 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778285210 2 184620794 C CA 1020 PASS - - - - - Ins - I 184620794 184620802 1 90 902.225 - - 7 1 1 - - ./. 0 0 0 0 28 17 28 17 0 0 ./. 8 9 11 12 28 34 29 34 11 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778285666 2 186133577 C CT 300 PASS - - - - - Ins - I 186133577 186133584 1 10 262.35 - - 6 1 1 - - ./. 0 0 0 0 29 26 29 26 0 0 ./. 1 4 3 8 14 29 14 30 3 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778285769 2 186459414 GA G 1349 PASS - - - - - Del - D 186459414 186459416 1 156 1233.9 - - 1 1 1 - - ./. 0 0 0 0 30 30 30 30 0 0 ./. 11 12 14 14 28 29 28 29 14 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778288408 2 194500042 TCAA T 360 PASS - - - - - Del - D 194500042 194500048 3 16 322.045 - - 1 1 1 - - ./. 0 0 0 0 24 25 24 25 0 0 ./. 3 3 5 4 24 22 24 22 5 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778288874 2 196004900 CTCTGATTG C 290 PASS - - - - - Del - D 196004900 196004910 8 27 536.741 - - 1 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 8 2 10 18 25 18 25 2 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778293285 2 206997491 ATATTCC A 609 PASS NDUFS1 CCDS2366.1 r.? - - Del intronic D 206997491 206997499 6 130 1127.16 - - 1 1 1 NDUFS1|CCDS2366.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NDUFS1|CCDS2366.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 21 13 21 0 0 ./. 12 9 16 11 33 27 33 27 16 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778296152 2 215221200 AACAAAACAACTATGTATACAGTACTTGCAAAAAATTAATGTTTTCTAAAGCATTTTAAGTTTTTCTTTT A 378 PASS SPAG16 CCDS2396.1 r.? - - Del intronic D 215221200 215221270 69 60 747.825 - - 1 1 1 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPAG16|CCDS2396.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 9 5 0 0 12 9 21 14 9 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778299094 2 222967069 GGAGA G 261 PASS - - - - - Del - D 222967069 222967078 4 30 483.067 - - 4 1 1 - - ./. 0 0 0 0 15 25 15 25 0 0 ./. 5 4 8 7 19 16 19 16 8 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778300931 2 227895993 CT C 689 PASS COL4A4 CCDS42828.1 r.? - - Del intronic D 227895993 227895995 1 48 641.681 - - 1 1 1 COL4A4|CCDS42828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL4A4|CCDS42828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 13 27 13 0 0 ./. 7 5 10 7 19 15 19 15 10 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778302364 2 231268627 ATTACCC A 406 PASS SP140L CCDS46538.1 r.? - - Del downstream D 231268627 231268636 6 63 750.835 - - 1 1 1 SP140L|CCDS46538.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 SP140L|CCDS46538.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 10 18 10 18 0 0 ./. 8 6 9 6 28 23 28 24 9 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778305033 2 237556519 CACCAG C 1407 PASS - - - - - Del - D 237556519 237556527 5 170 1341.85 - - 1 1 1 - - ./. 0 0 0 0 16 23 16 23 0 0 ./. 9 16 11 17 31 34 31 34 11 17 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778306225 2 240771991 T TA 480 PASS - - - - - Ins - I 240771991 240772000 1 24 423.372 - - 8 1 1 - - ./. 0 0 0 0 25 35 25 35 0 0 ./. 5 3 5 4 37 36 37 36 5 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778308875 20 4914191 CT C 960 PASS SLC23A2 CCDS13085.1 r.? - - Del intronic D 4914191 4914194 1 80 861.63 - - 2 1 1 SLC23A2|CCDS13085.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC23A2|CCDS13085.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 21 19 21 0 0 ./. 9 7 13 11 24 19 24 19 13 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778311096 20 12289380 CA C 720 PASS - - - - - Del - D 12289380 12289386 1 49 650.738 - - 5 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 6 6 11 8 17 16 17 16 11 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778313252 20 19339898 TA T 840 PASS SLC24A3 CCDS13140.1 r.? - - Del intronic D 19339898 19339908 1 63 759.194 - - 9 1 1 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 21 18 21 0 0 ./. 6 8 13 11 31 32 31 32 13 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778314124 20 22149538 ATT A 660 PASS - - - - - Del - D 22149538 22149542 2 42 596.51 - - 3 1 1 - - ./. 0 0 0 0 16 26 16 26 0 0 ./. 5 6 6 6 19 28 19 28 6 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778314411 20 23232946 GGGAATAAGAT G 522 PASS - - - - - Del - D 23232946 23232958 10 91 968.28 - - 1 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 12 6 12 6 26 35 26 35 12 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778324809 20 48344716 AT A 420 PASS - - - - - Del - D 48344716 48344723 1 8 379.597 - - 6 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 0 7 7 11 22 30 22 30 7 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778325183 20 48832820 CAG C 360 PASS - - - - - Del - D 48832820 48832840 2 15 324.165 - - 9 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 4 2 5 2 40 52 40 52 5 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778326610 20 51148110 GA G 360 PASS - - - - - Del - D 51148110 51148117 1 15 325.369 - - 6 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 2 4 3 6 35 36 35 36 3 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778328062 20 53300582 AGT A 300 PASS - - - - - Del - D 53300582 53300598 2 10 271.141 - - 7 1 - - - ./. 0 0 0 0 13 25 13 25 0 0 ./. 1 4 1 5 54 65 54 65 1 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778328593 20 54308094 A AT 420 PASS - - - - - Ins - I 54308094 54308101 1 18 374.78 - - 6 1 1 - - ./. 0 0 0 0 17 29 17 29 0 0 ./. 2 5 3 6 42 34 42 34 3 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778328671 20 54483101 A AT 480 PASS - - - - - Ins - I 54483101 54483108 1 25 429.009 - - 6 1 1 - - ./. 0 0 0 0 13 23 13 23 0 0 ./. 4 4 5 4 28 39 29 39 5 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778329377 20 55832521 TATTA T 329 PASS BMP7 CCDS13455.1 r.? - - Del intronic D 55832521 55832531 4 15 325.369 - - 2 1 1 BMP7|CCDS13455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BMP7|CCDS13455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 18 32 18 0 0 ./. 4 2 7 3 63 27 63 27 7 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778339604 21 23797312 CAA C 360 PASS - - - - - Del - D 23797312 23797316 2 7 325.759 - - 3 1 1 - - ./. 0 0 0 0 17 24 17 24 0 0 ./. 0 6 9 12 17 24 17 24 9 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778340227 21 25303314 G GA 840 PASS - - - - - Ins - I 25303314 25303322 1 60 751.675 - - 7 1 1 - - ./. 0 0 0 0 27 23 27 24 0 0 ./. 5 9 9 10 27 22 27 24 9 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778342067 21 29408050 T TA 251 PASS - - - - - Ins - I 29408050 29408054 1 8 375.837 - - 3 1 1 - - ./. 0 0 0 0 16 25 16 25 0 0 ./. 7 0 7 1 25 19 25 19 7 1 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778342965 21 31812571 GTCCAGTATAGAAGGTA G 307 PASS KRTAP15-1 CCDS13593.1 r.? - - Del upstream D 31812571 31812588 16 42 597.224 - - 1 1 1 KRTAP15-1|CCDS13593.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KRTAP15-1|CCDS13593.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 28 20 28 20 0 0 ./. 6 5 5 4 21 20 22 21 6 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778344440 21 34876077 CT C 807 PASS GART CCDS13627.1 r.? - - Del downstream D 34876077 34876079 1 72 812.591 - - 1 1 1 GART|CCDS13627.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 GART|ENST00000414353|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 20 25 20 0 0 ./. 7 8 11 8 28 23 28 23 11 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778347668 21 42382130 GTAAGAC G 406 PASS - - - - - Del - D 42382130 42382137 6 63 760.104 - - 1 1 1 - - ./. 0 0 0 0 24 21 24 21 0 0 ./. 6 8 9 10 24 21 24 21 9 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778348813 21 45255627 CA C 720 PASS - - - - - Del - D 45255627 45255629 1 45 650.916 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 4 8 5 11 11 22 11 22 5 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778357873 22 33958240 AT A 1409 PASS LARGE CCDS13912.1 r.? - - Del intronic D 33958240 33958245 1 160 1299.47 - - 4 1 1 LARGE|CCDS13912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LARGE|CCDS13912.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 24 15 24 0 0 ./. 15 9 17 16 33 27 33 27 17 16 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778359180 22 37150409 TC T 1649 PASS RABL4 CCDS13932.1 r.? - - Del downstream D 37150409 37150411 1 221 1519.06 - - 1 1 1 RABL4|CCDS13932.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RABL4|CCDS13932.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 15 11 15 0 0 ./. 12 16 20 23 32 27 32 27 20 23 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778360532 22 40424052 C CTT 1260 PASS FAM83F CCDS14000.2 r.? - - Ins intronic I 40424052 40424054 2 130 1116.87 - - 1 1 1 FAM83F|CCDS14000.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM83F|CCDS14000.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 14 22 14 0 0 ./. 12 9 16 14 30 28 31 28 16 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778375888 3 25487643 GTAGTGTTAGTATCTTTAAAATATTACCCACGTCTCTGTGACATATGGCTGTCATCCTCTGTCTTTACCCTGGAAGTGAGGAAATGCATGAATTTTATAGTAACATGTACAGTCACTGTTAGGAGGAATAGTTTTTATTTCCTTTATCTTAAAGCTGGGCTGAAAA G 424 PASS RARB CCDS2642.1 r.? - - Del intronic D 25487643 25487809 165 80 859.563 - - 1 1 1 RARB|CCDS2642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RARB|CCDS2642.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 7 9 0 0 24 21 31 30 7 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778379960 3 36230349 TTTTATTAGGGA T 377 PASS - - - - - Del - D 36230349 36230364 11 56 698.395 - - 1 1 1 - - ./. 0 0 0 0 20 26 20 26 0 0 ./. 7 6 8 8 27 33 27 33 8 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778382331 3 42589826 CATATAAAT C 609 PASS SEC22C CCDS2699.1 r.1237_1244delAUUUAUAU c.? p.? Del 3'UTR variant D 42589826 42589835 8 130 1126.37 - - 1 1 1 SEC22C|CCDS2699.1|r.1237_1244delAUUUAUAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SEC22C|CCDS2699.1|r.1237_1244delAUUUAUAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 16 17 16 17 0 0 ./. 12 9 14 10 28 26 28 26 14 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778382849 3 44023006 CCCTTTGACCAA C 377 PASS - - - - - Del - D 44023006 44023019 11 54 690.568 - - 1 1 1 - - ./. 0 0 0 0 26 22 26 22 0 0 ./. 5 8 8 10 34 26 34 26 8 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778382888 3 44185896 TCTC T 300 PASS - - - - - Del - D 44185896 44185902 3 12 266.807 - - 1 1 1 - - ./. 0 0 0 0 22 12 22 12 0 0 ./. 3 2 3 4 22 34 22 34 3 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778386851 3 51789836 TCAAAATG T 406 PASS - - - - - Del - D 51789836 51789844 7 60 752.118 - - 1 1 1 - - ./. 0 0 0 0 24 22 24 22 0 0 ./. 5 9 8 11 21 26 21 26 8 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778389872 3 58452179 TTG T 720 PASS - - - - - Del - D 58452179 58452184 2 49 644.672 - - 2 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 6 6 10 8 25 36 25 36 10 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778393323 3 67138579 CA C 960 PASS - - - - - Del - D 67138579 67138582 1 81 858.961 - - 2 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 8 8 11 11 38 30 38 30 11 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778398962 3 78839763 CTTTTAATAT C 551 PASS ROBO1 CCDS46872.1 r.? - - Del intronic D 78839763 78839775 9 108 1017.12 - - 1 1 1 ROBO1|CCDS46872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROBO1|CCDS46872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 8 11 10 14 32 31 32 31 10 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778400037 3 82126510 A AT 300 PASS - - - - - Ins - I 82126510 82126519 1 6 265.603 - - 8 1 1 - - ./. 0 0 0 0 22 15 23 15 0 0 ./. 0 5 3 9 34 33 34 33 3 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778400355 3 82964975 C CA 300 PASS - - - - - Ins - I 82964975 82964984 1 6 265.603 - - 8 1 1 - - ./. 0 0 0 0 8 3 8 3 0 0 ./. 5 0 6 0 18 2 18 2 6 0 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778400774 3 84308587 T TA 1020 PASS - - - - - Ins - I 84308587 84308595 1 90 903.051 - - 7 1 1 - - ./. 0 0 0 0 24 25 25 25 0 0 ./. 9 8 10 8 33 33 33 33 10 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778404611 3 98168323 TG T 540 PASS - - - - - Del - D 98168323 98168330 1 28 479.892 - - 6 1 1 - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 6 3 9 5 25 21 25 21 9 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778412387 3 117904942 ATCAGACCATAGCATC A 348 PASS - - - - - Del - D 117904942 117904960 15 48 644.672 - - 1 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 7 5 8 6 26 23 26 23 8 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778414052 3 122057032 TA T 689 PASS CSTA CCDS3011.1 r.? - - Del intronic D 122057032 122057037 1 45 643.468 - - 4 1 1 CSTA|CCDS3011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSTA|ENST00000479204|r.737delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 26 24 26 24 0 0 ./. 4 8 6 11 26 28 26 28 6 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778415717 3 126069129 C CTAGGA 834 PASS KLF15 CCDS3036.1 r.? - - Ins intronic I 126069129 126069134 5 88 861.508 - - 0 1 1 KLF15|CCDS3036.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KLF15|CCDS3036.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 16 26 16 0 0 ./. 10 7 12 8 43 27 43 27 12 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778415741 3 126127197 AT A 780 PASS CCDC37 CCDS3037.1 r.? - - Del intronic D 126127197 126127199 1 56 696.589 - - 1 1 1 CCDC37|CCDS3037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC37|CCDS3037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 6 8 8 25 29 25 29 8 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778417319 3 130382306 TGGAATAGAA T 493 PASS COL6A6 CCDS46911.1 r.? - - Del intronic D 130382306 130382317 9 90 912.082 - - 1 1 1 COL6A6|CCDS46911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL6A6|CCDS46911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 8 9 10 10 26 32 26 32 10 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778419926 3 137185319 G GGT 360 PASS - - - - - Ins - I 137185319 137185335 2 15 315.111 - - 7 1 1 - - ./. 0 0 0 0 26 15 26 15 0 0 ./. 2 4 4 5 31 42 31 42 4 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778423401 3 145818737 CTGAACT C 377 PASS PLOD2 CCDS3132.1 r.? - - Del intronic D 145818737 145818744 6 54 697.793 - - 1 1 1 PLOD2|CCDS3132.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLOD2|CCDS3132.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 5 8 8 10 24 22 24 22 8 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778429421 3 161417295 GATGGAAGCAAGTTCTGTGTGAAGAAGAGATACACAGACTCTGAAAAGGGGATAGATTGGGAATGGGCTATCATGCATTCATTATGCTCCTCCA G 261 PASS - - - - - Del - D 161417295 161417392 93 28 482.902 - - 1 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 6 3 0 0 27 13 33 16 6 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778430782 3 164876148 TTTATAATCATACAGTCTCATA T 319 PASS - - - - - Del - D 164876148 164876172 21 42 589.143 - - 1 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 6 5 6 5 26 23 26 23 6 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778431978 3 168090896 T TA 600 PASS - - - - - Ins - I 168090896 168090904 1 35 530.002 - - 7 1 1 - - ./. 0 0 0 0 25 15 25 16 0 0 ./. 6 4 6 4 47 33 47 34 6 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778432218 3 168809019 GAAAATCAA G 435 PASS MECOM CCDS3205.1 r.? - - Del intronic D 168809019 168809030 8 66 805.84 - - 1 1 1 MECOM|CCDS3205.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MECOM|CCDS3205.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 22 20 22 0 0 ./. 10 5 10 7 37 22 37 22 10 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778432954 3 170338135 C CT 1132 PASS CLDN11 ENST00000486975 r.? - - Ins intronic I 170338135 170338144 1 110 1009.29 - - 8 1 1 CLDN11|ENST00000486975|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLDN11|ENST00000486975|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 25 18 25 0 0 ./. 10 9 15 12 35 36 35 36 15 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778436791 3 179608831 TCTCAGATTTA T 551 PASS PEX5L CCDS3236.1 r.? - - Del intronic D 179608831 179608847 10 104 1015.91 - - 1 1 1 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 22 22 22 0 0 ./. 12 7 13 7 38 22 38 22 13 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778441714 3 190855138 C CA 749 PASS - - - - - Ins - I 190855138 190855148 1 44 686.354 - - 9 1 1 - - ./. 0 0 0 0 22 28 22 28 0 0 ./. 3 10 9 14 39 39 39 39 9 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778444107 3 195937376 AGGGGTCC A 290 PASS ZDHHC19 CCDS43190.1 r.? - - Del intronic D 195937376 195937384 7 27 535.421 - - 1 1 1 ZDHHC19|CCDS43190.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZDHHC19|CCDS43190.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 37 12 37 12 0 0 ./. 8 2 11 5 41 21 41 21 11 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778444974 3 197447852 A AT 300 PASS MIR922 CCDS46987.1 r.? - - Ins intronic I 197447852 197447862 1 12 265.603 - - 9 1 1 MIR922|CCDS46987.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MIR922|CCDS46987.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 36 18 37 0 0 ./. 2 3 2 3 38 37 38 37 2 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778446716 4 3438215 TC T 660 PASS RGS12 CCDS3367.1 r.? - - Del downstream D 3438215 3438219 1 36 590.156 - - 3 1 1 RGS12|CCDS3367.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 RGS12|CCDS3366.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 21 22 21 0 0 ./. 8 3 15 7 38 26 38 26 15 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778447795 4 5938871 G GA 300 PASS C4orf50 CCDS3384.1 r.? - - Ins intronic I 5938871 5938881 1 10 262.506 - - 9 1 1 C4orf50|CCDS3384.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 C4orf50|CCDS3384.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 33 20 34 0 0 ./. 1 4 2 4 46 37 47 38 2 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778447843 4 6054894 C CA 360 PASS JAKMIP1 CCDS47005.1 r.? - - Ins intronic I 6054894 6054903 1 15 318.619 - - 8 1 1 JAKMIP1|CCDS47005.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 JAKMIP1|CCDS47005.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 24 25 24 0 0 ./. 4 2 5 5 28 49 28 49 5 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778451997 4 17105636 TTTTAAC T 319 PASS - - - - - Del - D 17105636 17105646 6 42 590.758 - - 1 1 1 - - ./. 0 0 0 0 32 18 32 18 0 0 ./. 6 5 7 10 24 31 24 31 7 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778452534 4 18319947 CCT C 1740 PASS - - - - - Del - D 18319947 18319951 2 238 1553.24 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 16 13 19 14 44 41 44 41 19 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778453251 4 20408992 GT G 1140 PASS SLIT2 ENST00000504154 r.? - - Del intronic D 20408992 20408994 1 110 1020.4 - - 1 1 1 SLIT2|ENST00000504154|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT2|ENST00000504154|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 20 24 20 0 0 ./. 9 10 12 14 31 40 31 40 12 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778456907 4 28992830 T TA 420 PASS - - - - - Ins - I 28992830 28992837 1 18 371.722 - - 6 1 1 - - ./. 0 0 0 0 32 26 32 26 0 0 ./. 2 5 2 5 33 30 33 32 2 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778456964 4 29288446 CT C 660 PASS - - - - - Del - D 29288446 29288449 1 40 590.758 - - 2 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 7 4 9 6 25 29 25 29 9 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778458630 4 33531350 C CT 300 PASS - - - - - Ins - I 33531350 33531360 1 12 263.71 - - 9 1 1 - - ./. 0 0 0 0 33 31 33 31 0 0 ./. 3 2 4 5 46 42 47 43 4 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778462444 4 40956083 CCTGGCTTCTGAACAAGGACCA C 435 PASS APBB2 CCDS3837.1 r.? - - Del intronic D 40956083 40956107 21 52 805.579 - - 1 1 1 APBB2|CCDS3837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APBB2|CCDS3837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 12 3 7 31 32 31 37 3 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778463584 4 43797339 CTTGAA C 805 PASS - - - - - Del - D 43797339 43797350 5 77 859.284 - - 2 1 1 - - ./. 0 0 0 0 26 24 26 24 0 0 ./. 6 10 8 11 25 29 25 29 8 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778463739 4 44284153 G GT 420 PASS KCTD8 CCDS3467.1 r.? - - Ins intronic I 44284153 44284163 1 20 371.12 - - 9 1 1 KCTD8|CCDS3467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCTD8|CCDS3467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 16 0 0 ./. 4 3 5 3 36 28 36 29 5 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778464007 4 44868260 G GA 420 PASS - - - - - Ins - I 44868260 44868266 1 18 371.722 - - 5 1 1 - - ./. 0 0 0 0 44 21 44 21 0 0 ./. 2 5 6 8 39 40 40 40 6 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778464959 4 47698543 AC A 780 PASS CORIN CCDS3477.1 r.? - - Del intronic D 47698543 47698546 1 50 698.168 - - 2 1 1 CORIN|CCDS3477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CORIN|CCDS3477.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 27 18 27 0 0 ./. 4 9 5 11 36 36 36 36 5 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778469238 4 58602159 T TAC 269 PASS - - - - - Ins - I 58602159 58602177 2 12 261.904 - - 8 1 - - - ./. 0 0 0 0 20 19 21 19 0 0 ./. 3 2 3 2 36 36 36 37 3 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778477961 4 80610149 AGTT A 749 PASS - - - - - Del - D 80610149 80610156 3 56 698.168 - - 2 1 1 - - ./. 0 0 0 0 24 19 24 19 0 0 ./. 6 7 9 9 31 43 31 43 9 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778480373 4 86618279 AT A 660 PASS ARHGAP24 CCDS34025.1 r.? - - Del intronic D 86618279 86618282 1 36 590.758 - - 2 1 1 ARHGAP24|CCDS34025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP24|CCDS34025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 21 19 21 0 0 ./. 8 3 13 5 33 23 33 23 13 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778481159 4 88427675 C CCT 637 PASS SPARCL1 CCDS3622.1 r.? - - Ins intronic I 88427675 88427688 2 40 573.9 - - 6 1 1 SPARCL1|CCDS3622.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SPARCL1|CCDS3622.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 17 18 0 0 ./. 4 7 5 12 38 38 38 38 5 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778482236 4 91514398 C CA 840 PASS FAM190A CCDS47100.1 r.? - - Ins intronic I 91514398 91514407 1 64 743.445 - - 8 1 1 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 27 20 27 0 0 ./. 7 7 9 8 35 32 35 32 9 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778482729 4 92940517 AT A 480 PASS - - - - - Del - D 92940517 92940523 1 21 429.642 - - 5 1 1 - - ./. 0 0 0 0 25 22 25 22 0 0 ./. 6 2 8 5 32 27 32 27 8 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778483471 4 95426551 AGTTGTGCGCCACCAT A 464 PASS PDLIM5 CCDS3641.1 r.? - - Del intronic D 95426551 95426568 15 77 858.08 - - 1 1 1 PDLIM5|CCDS3641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDLIM5|CCDS3641.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 25 23 25 0 0 ./. 6 10 6 10 25 25 26 25 7 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778485572 4 100873467 TCATCTATTTTCACATGGTTGAAAGATTAAGGAAAAAGGTATGCAATGTACATAGTAGCATGTGTTTGGCACGTAGTTAG T 377 PASS H2AFZ CCDS3654.1 r.? - - Del upstream D 100873467 100873548 79 56 698.168 - - 1 1 1 H2AFZ|CCDS3654.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635:SO:0001636 H2AFZ|CCDS3654.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635:SO:0001636 ./. 0 0 0 0 8 14 8 14 0 0 ./. 7 6 0 0 16 18 23 24 7 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778486699 4 104267553 G GT 300 PASS - - - - - Ins - I 104267553 104267561 1 12 265.516 - - 7 1 1 - - ./. 0 0 0 0 22 24 22 24 0 0 ./. 3 2 7 5 34 31 34 31 7 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778488728 4 109970470 GATAAGACTTTATGTGGTCATTTCCAAAAAAAGAAAAACAGTAAGTGAACTCATTTATACAGATCATCTCAGTTTCAAAAGAAATTTTACTTGACTTTTCTGTTTTACATTGGGGATTTGT G 493 PASS COL25A1 CCDS43258.1 r.? - - Del intronic D 109970470 109970591 120 60 911.785 - - 1 1 1 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 20 20 20 0 0 ./. 14 3 0 0 24 23 38 26 14 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778489672 4 112152375 AG A 360 PASS - - - - - Del - D 112152375 112152378 1 15 322.232 - - 2 1 1 - - ./. 0 0 0 0 17 24 17 24 0 0 ./. 2 4 6 6 24 18 24 18 6 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778489774 4 112386234 GGAAAA G 420 PASS - - - - - Del - D 112386234 112386252 5 20 375.937 - - 3 1 1 - - ./. 0 0 0 0 32 26 32 26 0 0 ./. 4 3 6 7 37 27 37 27 6 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778490025 4 113349203 AGC A 1080 PASS ALPK1 CCDS3697.1 r.? - - Del intronic D 113349203 113349206 2 99 966.695 - - 1 1 1 ALPK1|CCDS3697.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALPK1|CCDS3697.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 22 21 22 0 0 ./. 8 10 9 13 31 32 31 32 9 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778494721 4 125140670 CCTTCAGCT C 435 PASS - - - - - Del - D 125140670 125140682 8 72 805.579 - - 1 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 8 7 0 0 32 18 33 18 8 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778494946 4 125736513 GAC G 689 PASS - - - - - Del - D 125736513 125736517 2 45 644.463 - - 1 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 4 8 7 12 31 27 31 27 7 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778495297 4 126641086 CTA C 720 PASS - - - - - Del - D 126641086 126641089 2 45 644.463 - - 1 1 1 - - ./. 0 0 0 0 17 6 17 6 0 0 ./. 8 4 9 5 43 11 43 11 9 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778499271 4 136552649 T TA 900 PASS - - - - - Ins - I 136552649 136552655 1 72 788.119 - - 5 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 8 7 16 12 45 34 45 34 16 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778501390 4 141787817 AATGAGTAT A 464 PASS RNF150 ENST00000306799 r.3435_3442delAUACUCAU c.? p.? Del 3'UTR variant D 141787817 141787826 8 80 859.284 - - 1 1 1 RNF150|ENST00000306799|r.3435_3442delAUACUCAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 RNF150|ENST00000306799|r.3435_3442delAUACUCAU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 16 13 16 0 0 ./. 9 7 13 8 33 33 33 33 13 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778502288 4 144298282 GTT G 1320 PASS GAB1 CCDS3760.1 r.? - - Del intronic D 144298282 144298286 2 144 1177.3 - - 3 1 1 GAB1|CCDS3760.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GAB1|CCDS3760.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 23 21 23 0 0 ./. 11 11 21 15 41 45 41 45 21 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778503496 4 147997391 GCTAAAGAAACTT G 464 PASS - - - - - Del - D 147997391 147997405 12 80 859.284 - - 1 1 1 - - ./. 0 0 0 0 27 19 27 19 0 0 ./. 7 9 9 11 28 32 28 32 9 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778503776 4 148614652 GTGTTT G 747 PASS - - - - - Del - D 148614652 148614658 5 63 748.261 - - 1 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 8 6 8 8 29 29 29 29 8 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778505388 4 152401662 GTA G 720 PASS FAM160A1 CCDS47146.1 r.? - - Del intronic D 152401662 152401666 2 49 644.463 - - 1 1 1 FAM160A1|CCDS47146.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM160A1|CCDS47146.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 24 15 24 0 0 ./. 6 6 8 7 34 29 34 29 8 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778507823 4 158783298 T TA 492 PASS - - - - - Ins - I 158783298 158783308 1 28 474.919 - - 9 1 1 - - ./. 0 0 0 0 23 27 23 28 0 0 ./. 3 6 4 8 31 26 31 27 4 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778509292 4 162032193 TC T 480 PASS - - - - - Del - D 162032193 162032196 1 24 429.04 - - 2 1 1 - - ./. 0 0 0 0 24 11 24 11 0 0 ./. 5 3 16 6 44 25 44 25 16 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778509723 4 163152210 AT A 720 PASS - - - - - Del - D 163152210 163152214 1 45 644.463 - - 3 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 4 8 7 11 25 23 25 23 7 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778510466 4 164842042 ACAT A 420 PASS MARCH1 CCDS45732.1 r.? - - Del intronic D 164842042 164842047 3 20 374.733 - - 1 1 1 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MARCH1|CCDS45732.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 23 25 23 0 0 ./. 3 4 5 6 25 20 25 20 5 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778517520 4 181671407 AGT A 490 PASS - - - - - Del - D 181671407 181671412 2 35 537.053 - - 2 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 6 4 9 6 29 23 29 23 9 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778520723 4 188105211 TG T 660 PASS - - - - - Del - D 188105211 188105213 1 42 590.156 - - 1 1 1 - - ./. 0 0 0 0 17 23 17 23 0 0 ./. 6 5 8 6 37 32 37 32 8 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778523403 5 567557 AAG A 300 PASS - - - - - Del - D 567557 567576 2 12 268.895 - - 9 1 1 - - ./. 0 0 0 0 32 17 32 17 0 0 ./. 2 3 2 3 35 28 35 28 2 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778525245 5 5131063 AG A 600 PASS - - - - - Del - D 5131063 5131065 1 32 536.586 - - 1 1 1 - - ./. 0 0 0 0 17 23 17 23 0 0 ./. 3 7 4 7 24 42 24 42 4 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778525525 5 5880045 CACAT C 569 PASS - - - - - Del - D 5880045 5880050 4 32 537.188 - - 1 1 1 - - ./. 0 0 0 0 25 21 25 21 0 0 ./. 7 3 8 7 37 22 37 22 8 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778527059 5 9657634 G GA 1560 PASS - - - - - Ins - I 9657634 9657640 1 195 1380.19 - - 5 1 1 - - ./. 0 0 0 0 19 23 19 23 0 0 ./. 14 12 16 15 33 35 34 35 16 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778527779 5 11327825 GGTT G 509 PASS CTNND2 CCDS3881.1 r.? - - Del intronic D 11327825 11327832 3 30 484.011 - - 2 1 1 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 18 26 18 0 0 ./. 4 5 4 6 25 36 25 36 4 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778539476 5 38639000 AC A 360 PASS - - - - - Del - D 38639000 38639003 1 16 322.072 - - 2 1 1 - - ./. 0 0 0 0 24 15 24 15 0 0 ./. 3 3 5 4 30 33 30 33 5 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778540730 5 41951614 TCGCCCTGAAATTCCTC T 696 PASS - - - - - Del - D 41951614 41951632 16 153 1287.08 - - 1 1 1 - - ./. 0 0 0 0 12 25 12 25 0 0 ./. 8 16 7 16 19 41 20 41 8 16 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778541486 5 43881048 C CT 1620 PASS - - - - - Ins - I 43881048 43881049 1 198 1434.57 - - 0 1 1 - - ./. 0 0 0 0 27 17 27 18 0 0 ./. 17 10 20 16 35 30 35 30 20 16 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778541656 5 44568785 ACT A 540 PASS - - - - - Del - D 44568785 44568792 2 30 482.204 - - 3 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 4 5 4 5 33 21 33 21 4 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778542058 5 46105807 GT G 960 PASS - - - - - Del - D 46105807 46105814 1 80 860.463 - - 6 1 1 - - ./. 0 0 0 0 23 33 23 33 0 0 ./. 9 7 13 12 27 25 27 25 13 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778543131 5 52560655 ATCAG A 300 PASS - - - - - Del - D 52560655 52560665 4 12 268.895 - - 2 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 2 3 2 3 36 22 36 22 2 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778550141 5 70685658 AT A 300 PASS - - - - - Del - D 70685658 70685664 1 12 268.895 - - 5 1 1 - - ./. 0 0 0 0 21 26 21 26 0 0 ./. 3 2 4 2 30 15 30 15 4 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778550685 5 72068216 T TA 480 PASS - - - - - Ins - I 72068216 72068223 1 21 425.415 - - 6 1 1 - - ./. 0 0 0 0 29 25 30 25 0 0 ./. 6 2 8 4 29 31 29 31 8 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778552119 5 75455339 AG A 360 PASS SV2C ENST00000502798 r.? - - Del intronic D 75455339 75455344 1 15 322.072 - - 4 1 1 SV2C|ENST00000502798|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SV2C|ENST00000502798|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 2 4 4 7 32 24 32 24 4 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778554674 5 81109766 GACAAATTTTTTA G 261 PASS - - - - - Del - D 81109766 81109781 12 30 484.011 - - 1 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 5 4 5 4 34 21 34 21 5 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778556995 5 87191322 CAAGATGAAAAAGAATTATGAAGAG C 870 PASS - - - - - Del - D 87191322 87191348 24 252 1613.37 - - 1 1 1 - - ./. 0 0 0 0 32 33 32 33 0 0 ./. 13 17 11 12 34 33 36 38 13 17 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778558571 5 92624588 GAACTTA G 435 PASS - - - - - Del - D 92624588 92624604 6 70 806.684 - - 2 1 1 - - ./. 0 0 0 0 22 14 22 14 0 0 ./. 9 6 9 8 21 26 21 26 9 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778560828 5 99139536 T TA 540 PASS - - - - - Ins - I 99139536 99139544 1 28 478.592 - - 7 1 1 - - ./. 0 0 0 0 18 19 18 20 0 0 ./. 3 6 4 6 27 29 27 29 4 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778560908 5 99282795 A AT 780 PASS - - - - - Ins - I 99282795 99282803 1 44 689.494 - - 7 1 1 - - ./. 0 0 0 0 26 21 26 22 0 0 ./. 10 3 16 7 33 21 33 22 16 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778564132 5 108144071 A AT 300 PASS FER CCDS4098.1 r.? - - Ins intronic I 108144071 108144081 1 12 265.282 - - 9 1 1 FER|CCDS4098.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FER|CCDS4098.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 32 29 33 0 0 ./. 3 2 3 2 43 34 43 34 3 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778571749 5 128163864 ATTGAAAAAAAGAGAAATTGATCAGTGT A 261 PASS SLC27A6 ENST00000508645 r.? - - Del intronic D 128163864 128163893 27 30 484.011 - - 1 1 1 SLC27A6|ENST00000508645|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SLC27A6|ENST00000508645|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 18 24 18 0 0 ./. 4 5 3 2 32 33 33 36 4 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778572677 5 130940937 AAAC A 900 PASS RAPGEF6 ENST00000509018 r.? - - Del intronic D 130940937 130940955 3 52 806.082 - - 5 1 1 RAPGEF6|ENST00000509018|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAPGEF6|ENST00000509018|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 21 31 21 0 0 ./. 3 12 7 15 18 32 18 32 7 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778572879 5 131514387 AGTACAAAATGGGGAGG A 261 PASS - - - - - Del - D 131514387 131514404 16 30 484.011 - - 1 1 1 - - ./. 0 0 0 0 27 17 27 17 0 0 ./. 5 4 4 4 24 35 25 35 5 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778572886 5 131539531 TA T 600 PASS P4HA2 CCDS4151.1 r.1729delU c.1160delT p.L387fs*12 Del frameshift D 131539531 131539533 1 35 537.188 - - 1 1 1 P4HA2|CCDS4151.1|r.1729delU|c.1160delT|p.L387fs*12|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 P4HA2|CCDS4151.1|r.1729delU|c.1160delT|p.L387fs*12|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 20 11 20 11 0 0 ./. 6 4 6 6 43 23 43 23 6 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778573104 5 132133344 TGGG T 418 PASS SEPT8 ENST00000371493 r.? - - Del intronic D 132133344 132133349 3 24 424.813 - - 4 1 1 SEPT8|ENST00000371493|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SEPT8|ENST00000371493|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 13 23 13 0 0 ./. 5 3 8 5 25 17 25 17 8 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778573862 5 133886591 AC A 540 PASS PHF15 CCDS4176.1 r.? - - Del intronic D 133886591 133886593 1 30 484.011 - - 1 1 1 PHF15|CCDS4176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHF15|CCDS4176.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 18 21 18 0 0 ./. 5 4 6 6 35 29 35 29 6 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778577497 5 142577500 TATAA T 329 PASS ARHGAP26 CCDS47297.1 r.? - - Del intronic D 142577500 142577510 4 12 322.674 - - 2 1 1 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP26|CCDS47297.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 15 19 15 0 0 ./. 5 1 5 3 37 34 37 34 5 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778577764 5 143410151 C CT 1200 PASS - - - - - Ins - I 143410151 143410160 1 112 1063.54 - - 8 1 1 - - ./. 0 0 0 0 25 22 25 22 0 0 ./. 7 13 11 21 21 46 21 46 11 21 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778577989 5 144181551 AGG A 1020 PASS - - - - - Del - D 144181551 144181555 2 88 914.242 - - 3 1 1 - - ./. 0 0 0 0 27 21 27 21 0 0 ./. 7 10 14 14 25 29 25 29 14 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778584979 5 162524385 G GA 300 PASS - - - - - Ins - I 162524385 162524394 1 12 265.885 - - 8 1 1 - - ./. 0 0 0 0 18 18 19 18 0 0 ./. 3 2 5 5 28 25 29 26 5 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778585741 5 164592622 CA C 1380 PASS - - - - - Del - D 164592622 164592624 1 156 1229.69 - - 1 1 1 - - ./. 0 0 0 0 14 25 14 25 0 0 ./. 11 12 14 18 23 37 23 37 14 18 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778588370 5 171426157 CCTAAGCCTAAGAATAAACTGGA C 597 PASS FBXW11 CCDS34289.1 r.? - - Del intronic D 171426157 171426180 22 132 1128.76 - - 1 1 1 FBXW11|CCDS34289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXW11|CCDS34289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 10 11 8 10 20 23 22 24 10 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778588888 5 172349851 TG T 269 PASS ERGIC1 CCDS34292.1 r.? - - Del intronic D 172349851 172349855 1 10 268.895 - - 3 1 1 ERGIC1|CCDS34292.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERGIC1|CCDS34292.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 23 11 23 0 0 ./. 1 4 3 5 17 28 17 28 3 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778589524 5 173765600 AT A 360 PASS - - - - - Del - D 173765600 173765606 1 12 321.47 - - 5 1 1 - - ./. 0 0 0 0 21 25 21 25 0 0 ./. 1 5 4 6 34 36 34 36 4 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778594979 6 4600423 C CT 300 PASS - - - - - Ins - I 4600423 4600432 1 12 266.089 - - 8 1 1 - - ./. 0 0 0 0 22 23 23 23 0 0 ./. 2 3 3 4 23 33 25 33 3 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778595423 6 5642813 CCCA C 776 PASS FARS2 CCDS4494.1 r.? - - Del intronic D 5642813 5642817 3 70 800.675 - - 1 1 1 FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 6 9 11 12 20 23 20 23 11 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778597882 6 11245239 AT A 720 PASS NEDD9 ENST00000504387 r.? - - Del intronic D 11245239 11245244 1 48 642.225 - - 4 1 1 NEDD9|ENST00000504387|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEDD9|ENST00000504387|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 16 24 16 0 0 ./. 7 5 9 7 25 22 25 22 9 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778599865 6 15959870 G GT 697 PASS - - - - - Ins - I 15959870 15959872 1 45 638.011 - - 1 1 1 - - ./. 0 0 0 0 24 9 24 9 0 0 ./. 8 4 12 9 33 23 33 23 12 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778607322 6 32171572 AG A 540 PASS NOTCH4 CCDS34420.1 r.3344delC c.3205delC p.L1069fs*58 Del frameshift D 32171572 32171577 1 28 484.378 - - 4 1 1 NOTCH4|CCDS34420.1|r.3344delC|c.3205delC|p.L1069fs*58|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 NOTCH4|CCDS34420.1|r.3344delC|c.3205delC|p.L1069fs*58|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 17 19 17 19 0 0 ./. 6 3 11 6 21 23 21 23 11 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778607809 6 32584543 T TTA 749 PASS - - - - - Ins - I 32584543 32584548 2 56 684.004 - - 2 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 7 6 11 11 24 25 24 25 11 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778613366 6 44873645 GCAA G 302 PASS SUPT3H CCDS34466.1 r.? - - Del intronic D 44873645 44873649 3 21 429.956 - - 1 1 1 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 20 23 20 0 0 ./. 6 2 7 2 35 11 35 11 7 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778613994 6 46828312 ATAGC A 329 PASS GPR116 CCDS4919.1 r.? - - Del intronic D 46828312 46828318 4 7 322.919 - - 1 1 1 GPR116|CCDS4919.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR116|CCDS4919.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 16 24 16 0 0 ./. 6 0 7 2 33 26 33 26 7 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778614850 6 49113714 GT G 1320 PASS - - - - - Del - D 49113714 49113720 1 140 1184.04 - - 5 1 1 - - ./. 0 0 0 0 20 26 20 26 0 0 ./. 9 13 11 13 30 26 30 26 11 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778617356 6 56339286 C CA 329 PASS DST CCDS47441.1 r.? - - Ins intronic I 56339286 56339292 1 12 317.5 - - 5 1 - DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 30 19 30 0 0 ./. 1 5 2 6 20 47 22 47 2 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778617992 6 57383397 AGG A 269 PASS PRIM2 ENST00000425433 r.? - - Del intronic D 57383397 57383401 2 10 269.099 - - 3 1 1 PRIM2|ENST00000425433|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRIM2|ENST00000425433|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 61 59 61 59 0 0 ./. 1 4 4 7 79 76 79 76 4 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778621511 6 68366345 GTGCAGGT G 290 PASS - - - - - Del - D 68366345 68366354 7 36 536.994 - - 1 1 1 - - ./. 0 0 0 0 25 28 25 28 0 0 ./. 5 5 6 5 32 18 32 18 6 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778623209 6 73020664 T TC 720 PASS RIMS1 CCDS47449.1 r.? - - Ins intronic I 73020664 73020666 1 45 638.613 - - 1 1 1 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 24 25 24 0 0 ./. 8 4 9 8 26 20 28 20 9 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778625943 6 80844383 AT A 1560 PASS BCKDHB CCDS4994.1 r.? - - Del intronic D 80844383 80844388 1 195 1392.69 - - 4 1 1 BCKDHB|CCDS4994.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCKDHB|CCDS4994.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 23 17 23 0 0 ./. 12 14 15 15 29 31 29 31 16 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778627449 6 85969039 GA G 660 PASS - - - - - Del - D 85969039 85969041 1 42 592.018 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 6 6 11 37 29 37 29 6 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778629909 6 92920648 CT C 660 PASS - - - - - Del - D 92920648 92920652 1 40 592.018 - - 3 1 1 - - ./. 0 0 0 0 21 24 21 24 0 0 ./. 4 7 6 9 26 29 26 29 6 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778630106 6 93462680 TTGTC T 418 PASS - - - - - Del - D 93462680 93462685 4 25 430.559 - - 1 1 1 - - ./. 0 0 0 0 22 21 22 21 0 0 ./. 4 4 5 8 25 35 25 35 5 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778632507 6 100563824 TG T 540 PASS - - - - - Del - D 100563824 100563829 1 30 484.378 - - 4 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 5 8 8 17 23 17 23 8 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778634101 6 105461206 A AT 600 PASS LIN28B CCDS34504.1 r.? - - Ins intronic I 105461206 105461216 1 35 529.167 - - 9 1 1 LIN28B|CCDS34504.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LIN28B|CCDS34504.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 24 18 25 0 0 ./. 4 6 5 7 23 31 23 31 5 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778634518 6 106635737 CAA C 360 PASS ATG5 CCDS5055.1 r.? - - Del intronic D 106635737 106635742 2 15 322.919 - - 4 1 1 ATG5|CCDS5055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATG5|CCDS5055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 2 8 10 23 20 23 20 8 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778638484 6 116866269 C CAT 300 PASS FAM26D CCDS5109.1 r.? - - Ins intronic I 116866269 116866281 2 10 263.078 - - 5 1 - FAM26D|CCDS5109.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FAM26D|CCDS5109.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 27 21 27 0 0 ./. 1 4 8 6 26 24 27 24 8 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778642975 6 130745673 C CT 540 PASS TMEM200A CCDS5140.1 r.? - - Ins intronic I 130745673 130745681 1 30 478.96 - - 7 1 1 TMEM200A|CCDS5140.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TMEM200A|CCDS5140.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 26 20 27 0 0 ./. 4 5 6 11 37 43 38 43 6 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778645753 6 138741163 G GCGAGA 925 PASS NHSL1 CCDS47487.1 r.? - - Ins downstream I 138741163 138741169 5 96 913.367 - - 1 1 1 NHSL1|CCDS47487.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 NHSL1|CCDS47487.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 17 17 17 17 0 0 ./. 7 11 11 11 27 24 27 24 11 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778645768 6 138803214 GA G 900 PASS NHSL1 CCDS47487.1 r.? - - Del intronic D 138803214 138803218 1 60 803.685 - - 3 1 1 NHSL1|CCDS47487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NHSL1|CCDS47487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 11 14 15 25 31 25 31 14 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778648186 6 146664087 A AT 660 PASS GRM1 CCDS47497.1 r.? - - Ins intronic I 146664087 146664096 1 36 576.966 - - 8 1 1 GRM1|CCDS47497.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRM1|CCDS47497.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 33 21 34 22 0 0 ./. 8 3 10 5 30 32 30 32 10 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778650879 6 153198566 A AT 720 PASS - - - - - Ins - I 153198566 153198575 1 48 637.409 - - 8 1 1 - - ./. 0 0 0 0 26 30 26 31 0 0 ./. 5 7 7 9 25 29 25 30 7 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778654947 6 163367288 G GA 420 PASS PACRG CCDS43524.1 r.? - - Ins intronic I 163367288 163367298 1 20 372.524 - - 9 1 1 PACRG|CCDS43524.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PACRG|CCDS43524.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 29 22 30 0 0 ./. 4 3 5 4 25 22 25 22 5 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778660378 7 5591498 A AT 420 PASS ACTB ENST00000443528 r.? - - Ins intronic I 5591498 5591499 1 14 365.783 - - 0 1 1 ACTB|ENST00000443528|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ACTB|ENST00000443528|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 8 19 8 0 0 ./. 1 6 3 11 27 33 28 33 3 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778661859 7 8268685 G GT 300 PASS ICA1 CCDS34602.1 r.? - - Ins intronic I 8268685 8268695 1 10 266.004 - - 9 1 1 ICA1|CCDS34602.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ICA1|CCDS34602.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 25 28 25 0 0 ./. 1 4 1 4 21 45 21 45 1 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778664382 7 14480985 CAGA C 480 PASS DGKB CCDS47547.1 r.? - - Del intronic D 14480985 14480991 3 24 430.423 - - 1 1 1 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DGKB|CCDS47547.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 21 18 21 0 0 ./. 3 5 4 6 28 34 28 34 4 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778665184 7 16565670 A AT 420 PASS SOSTDC1 ENST00000396652 r.? - - Ins intronic I 16565670 16565680 1 18 371.201 - - 9 1 1 SOSTDC1|ENST00000396652|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SOSTDC1|ENST00000396652|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 17 25 17 0 0 ./. 5 2 8 4 37 38 37 40 8 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778665609 7 17603305 G GA 540 PASS - - - - - Ins - I 17603305 17603314 1 30 478.807 - - 8 1 1 - - ./. 0 0 0 0 32 35 32 35 0 0 ./. 5 4 8 5 39 43 40 44 8 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778667190 7 21482943 TTACGATCGTAAAAGGA T 406 PASS SP4 CCDS5373.1 r.? - - Del intronic D 21482943 21482960 16 39 750.831 - - 1 1 1 SP4|CCDS5373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SP4|CCDS5373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 26 8 26 0 0 ./. 2 12 2 12 22 30 23 30 3 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778674857 7 39804194 TGGATGCTTACATTGTCTCATC T 272 PASS - - - - - Del - D 39804194 39804216 21 40 645.634 - - 1 1 1 - - ./. 0 0 0 0 25 24 25 24 0 0 ./. 3 9 3 9 24 26 24 26 3 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778675697 7 41601773 TAAGATATG T 290 PASS ENSG00000236089 ENST00000443116 r.? - - Del intronic D 41601773 41601783 8 35 538.028 - - 1 1 1 ENSG00000236089|ENST00000443116|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000236089|ENST00000443116|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 4 6 7 9 41 29 41 29 7 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778676687 7 44020949 AG A 264 PASS - - - - - Del - D 44020949 44020951 1 12 319.807 - - 1 1 - - - ./. 0 0 0 0 16 4 16 4 0 0 ./. 5 1 6 4 29 13 30 13 6 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778676805 7 44248860 GGAGCCTGGGAACCTGCATTTTAT G 580 PASS YKT6 CCDS5482.1 r.? - - Del intronic D 44248860 44248884 23 120 1071.84 - - 1 1 1 YKT6|CCDS5482.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 YKT6|CCDS5482.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 14 24 14 0 0 ./. 9 11 9 10 29 32 29 33 9 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778678106 7 47596180 TTTGAC T 329 PASS TNS3 CCDS5506.2 r.? - - Del intronic D 47596180 47596188 5 16 315.592 - - 1 1 1 TNS3|CCDS5506.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TNS3|CCDS5506.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 26 24 26 0 0 ./. 3 3 3 4 23 22 23 22 3 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778678477 7 48347949 A AT 300 PASS ABCA13 CCDS47584.1 r.? - - Ins intronic I 48347949 48347958 1 10 266.004 - - 8 1 1 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABCA13|CCDS47584.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 21 16 21 0 0 ./. 1 4 2 6 35 40 36 40 2 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778685313 7 65191246 GAGGTGGAGGTGCCCTAGGGGGCTCCTCACCA G 479 PASS - - - - - Del - D 65191246 65191281 31 88 914.046 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 10 7 0 0 32 26 34 27 10 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778688805 7 71007427 AC A 809 PASS WBSCR17 CCDS5540.1 r.? - - Del intronic D 71007427 71007432 1 64 742.402 - - 4 1 1 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WBSCR17|CCDS5540.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 7 7 9 11 26 26 26 26 9 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778689746 7 72659193 GCTGCAGTGCA G 371 PASS - - - - - Del - D 72659193 72659204 10 72 860.845 - - 1 1 1 - - ./. 0 0 0 0 25 9 25 9 0 0 ./. 11 5 12 5 35 15 35 15 12 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778693309 7 79658655 T TA 300 PASS - - - - - Ins - I 79658655 79658661 1 10 266.004 - - 5 1 1 - - ./. 0 0 0 0 21 26 21 26 0 0 ./. 4 1 6 3 36 26 36 27 6 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778693659 7 80497097 TCAAA T 927 PASS SEMA3C CCDS5596.1 r.? - - Del intronic D 80497097 80497102 4 78 914.046 - - 1 1 1 SEMA3C|CCDS5596.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEMA3C|CCDS5596.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 10 24 10 0 0 ./. 12 5 15 6 36 23 36 23 15 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778696533 7 88537905 G GT 360 PASS ZNF804B CCDS5613.1 r.? - - Ins intronic I 88537905 88537913 1 15 319.205 - - 7 1 1 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 24 23 25 0 0 ./. 4 2 5 4 35 39 35 39 5 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778698696 7 94547916 TCATCCTAGAAAGAGACCCTGTGTCTGTGAATTGTCATTCC T 464 PASS PPP1R9A CCDS34683.1 r.? - - Del intronic D 94547916 94547959 40 80 857.835 - - 1 1 1 PPP1R9A|CCDS34683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R9A|CCDS34683.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 18 10 18 0 0 ./. 7 9 5 6 29 28 31 31 7 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778701724 7 100816317 C CAG 540 PASS C7orf52 CCDS5713.1 r.? - - Ins intronic I 100816317 100816322 2 28 470.98 - - 2 1 1 C7orf52|CCDS5713.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C7orf52|CCDS5713.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 18 21 18 0 0 ./. 3 6 4 7 36 39 36 40 4 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778705485 7 108129272 GTTTTATTAA G 348 PASS PNPLA8 CCDS34733.1 r.? - - Del intronic D 108129272 108129283 9 45 645.032 - - 1 1 1 PNPLA8|CCDS34733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PNPLA8|CCDS34733.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 19 21 19 0 0 ./. 8 4 9 4 33 19 33 19 9 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778705947 7 109514089 AGATTTGCTCAC A 580 PASS - - - - - Del - D 109514089 109514101 11 120 1076.06 - - 1 1 1 - - ./. 0 0 0 0 20 25 20 25 0 0 ./. 11 9 11 9 32 32 32 32 11 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778706178 7 110218729 G GA 300 PASS - - - - - Ins - I 110218729 110218736 1 12 266.004 - - 6 1 1 - - ./. 0 0 0 0 28 22 29 22 0 0 ./. 3 2 3 4 35 40 35 40 3 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778707767 7 115354157 CT C 900 PASS - - - - - Del - D 115354157 115354162 1 70 806.44 - - 4 1 1 - - ./. 0 0 0 0 18 29 18 29 0 0 ./. 6 9 9 16 26 39 26 39 9 16 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778714677 7 134473869 G GAATTGTATC 406 PASS CALD1 CCDS5836.1 r.? - - Ins intronic I 134473869 134473880 9 60 677.38 - - 1 1 1 CALD1|CCDS5836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CALD1|CCDS5836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 32 19 32 0 0 ./. 5 9 5 8 25 38 25 38 5 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778715142 7 135519600 CAAGGA C 836 PASS - - - - - Del - D 135519600 135519606 5 77 857.233 - - 1 1 1 - - ./. 0 0 0 0 20 21 20 21 0 0 ./. 6 10 6 12 17 22 17 22 6 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778722560 7 153716656 CATTCTTTCTCCAGAGATGTCTT C 250 PASS DPP6 ENST00000404039 r.? - - Del intronic D 153716656 153716682 22 49 645.634 - - 1 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 6 6 4 6 7 15 9 15 6 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778722869 7 154614298 CTT C 480 PASS DPP6 ENST00000404039 r.? - - Del intronic D 154614298 154614302 2 24 429.218 - - 3 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 5 3 5 3 19 22 19 22 5 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778723319 7 155556478 CA C 540 PASS RBM33 CCDS5941.2 r.? - - Del intronic D 155556478 155556481 1 30 484.225 - - 2 1 1 RBM33|CCDS5941.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBM33|CCDS5941.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 19 12 19 0 0 ./. 4 5 5 5 26 23 26 23 5 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778724914 8 585764 CGT C 269 PASS - - - - - Del - D 585764 585779 2 10 267.474 - - 7 1 1 - - ./. 0 0 0 0 20 31 20 31 0 0 ./. 1 4 2 4 66 40 66 40 2 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778726485 8 3754266 G GT 360 PASS - - - - - Ins - I 3754266 3754275 1 16 318.199 - - 8 1 1 - - ./. 0 0 0 0 13 22 14 22 0 0 ./. 3 3 5 5 44 37 46 38 5 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778726770 8 4241518 CA C 1049 PASS - - - - - Del - D 4241518 4241521 1 96 964.833 - - 2 1 1 - - ./. 0 0 0 0 30 18 30 18 0 0 ./. 7 11 10 15 42 36 43 36 10 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778728009 8 6539342 CT C 449 PASS - - - - - Del - D 6539342 6539345 1 21 429.885 - - 2 1 1 - - ./. 0 0 0 0 26 14 26 14 0 0 ./. 6 2 7 2 56 41 56 41 7 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778734397 8 19318528 AT A 895 PASS CSGALNACT1 CCDS6010.1 r.? - - Del intronic D 19318528 19318532 1 72 803.024 - - 3 1 1 CSGALNACT1|CCDS6010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSGALNACT1|CCDS6010.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 7 8 9 10 44 50 44 50 9 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778734737 8 20069877 ATTACTTAGG A 435 PASS ATP6V1B2 CCDS6014.1 r.? - - Del intronic D 20069877 20069889 9 70 805.432 - - 1 1 1 ATP6V1B2|CCDS6014.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP6V1B2|CCDS6014.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 22 15 22 0 0 ./. 6 9 7 11 43 51 43 51 7 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778736500 8 23725522 AT A 300 PASS - - - - - Del - D 23725522 23725532 1 12 268.678 - - 9 1 1 - - ./. 0 0 0 0 16 34 16 34 0 0 ./. 3 2 3 2 55 40 55 40 4 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778741052 8 32004252 T TA 420 PASS NRG1 CCDS47836.1 r.? - - Ins intronic I 32004252 32004260 1 18 371.935 - - 7 1 1 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 21 15 21 0 0 ./. 2 5 5 13 40 57 40 57 5 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778742306 8 34737346 T TC 660 PASS - - - - - Ins - I 34737346 34737347 1 42 584.469 - - 0 1 1 - - ./. 0 0 0 0 17 27 17 27 0 0 ./. 6 5 7 8 26 42 26 42 7 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778743307 8 37522941 AAG A 300 PASS - - - - - Del - D 37522941 37522959 2 10 266.872 - - 8 1 1 - - ./. 0 0 0 0 21 20 21 20 0 0 ./. 4 1 5 1 53 36 53 36 5 1 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778746416 8 42883500 T TA 300 PASS HOOK3 CCDS6139.1 r.12258_12259insa c.? p.? Ins 3'UTR variant I 42883500 42883510 1 12 265.668 - - 9 1 1 HOOK3|CCDS6139.1|r.12258_12259insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 HOOK3|CCDS6139.1|r.12258_12259insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 16 21 17 22 0 0 ./. 2 3 2 3 46 49 46 50 2 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778748229 8 50155163 AT A 360 PASS - - - - - Del - D 50155163 50155172 1 16 322.414 - - 8 1 1 - - ./. 0 0 0 0 21 26 21 26 0 0 ./. 3 3 3 5 54 50 54 50 3 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778749006 8 51922505 G GA 300 PASS - - - - - Ins - I 51922505 51922515 1 10 258.443 - - 9 1 1 - - ./. 0 0 0 0 31 29 31 29 0 0 ./. 1 4 2 4 48 71 48 71 2 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778752582 8 58561837 GGT G 420 PASS - - - - - Del - D 58561837 58561855 2 14 374.945 - - 8 1 - - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 1 6 2 6 42 83 42 83 2 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778753637 8 61198811 C CA 720 PASS CA8 CCDS6174.1 r.? - - Ins upstream I 61198811 61198818 1 48 633.388 - - 6 1 1 CA8|CCDS6174.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CA8|CCDS6174.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 22 17 22 17 0 0 ./. 5 7 7 7 46 53 46 54 7 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778754031 8 61848642 CGTAATCACATGAGCCCATTCCTTATAGTAAACCTCTCTTTCTCTATATATCTATATCTACATCTGTATCTATCCTATTGTTTCTATTTCTCTGCGAACCCAGTCTAATACAGCTACTTATCTTCTGATCTTCCTCCTTTAGAAAACGAGCCCCTTTTCCTTTTGGAAACTTCCCCTGCCTTACT C 261 PASS - - - - - Del - D 61848642 61848828 184 28 483.018 - - 1 1 1 - - ./. 0 0 0 0 23 33 23 33 0 0 ./. 3 6 0 0 33 45 36 51 3 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778755634 8 65497734 TGAGAA T 298 PASS BHLHE22 CCDS6179.1 r.? - - Del downstream D 65497734 65497740 5 16 321.812 - - 1 1 1 BHLHE22|CCDS6179.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 BHLHE22|CCDS6179.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 32 9 32 0 0 ./. 3 3 4 3 43 62 43 62 4 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778758054 8 70034487 CA C 1229 PASS - - - - - Del - D 70034487 70034490 1 120 1128.45 - - 2 1 1 - - ./. 0 0 0 0 39 26 39 26 0 0 ./. 7 14 7 15 58 59 58 59 7 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778759809 8 73607785 T TA 600 PASS KCNB2 CCDS6209.1 r.? - - Ins intronic I 73607785 73607794 1 32 531.335 - - 8 1 1 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 19 25 19 0 0 ./. 3 7 4 8 62 59 64 59 4 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778761623 8 76951824 CT C 1260 PASS - - - - - Del - D 76951824 76951826 1 130 1124.84 - - 1 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 9 12 14 17 68 68 68 68 14 17 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778763154 8 80313566 CA C 360 PASS - - - - - Del - D 80313566 80313576 1 15 301.341 - - 9 1 1 - - ./. 0 0 0 0 12 22 12 22 0 0 ./. 4 2 4 2 39 52 39 52 4 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778764429 8 82886495 ACTG A 372 PASS - - - - - Del - D 82886495 82886500 3 24 429.283 - - 1 1 1 - - ./. 0 0 0 0 27 16 27 16 0 0 ./. 5 3 6 4 58 32 58 32 6 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778764694 8 83417978 TA T 537 PASS - - - - - Del - D 83417978 83417980 1 30 476.998 - - 1 1 1 - - ./. 0 0 0 0 23 20 23 20 0 0 ./. 4 5 18 15 55 54 55 54 18 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778764933 8 84014551 T TA 780 PASS - - - - - Ins - I 84014551 84014552 1 50 690.736 - - 0 1 1 - - ./. 0 0 0 0 24 19 24 19 0 0 ./. 4 9 11 12 52 46 52 46 11 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778764976 8 84122828 AGGT A 598 PASS - - - - - Del - D 84122828 84122835 3 36 589.887 - - 2 1 1 - - ./. 0 0 0 0 29 17 29 17 0 0 ./. 8 3 11 9 53 46 53 46 11 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778765655 8 85683451 TTC T 300 PASS RALYL ENST00000399361 r.? - - Del intronic D 85683451 85683467 2 6 268.678 - - 7 1 1 RALYL|ENST00000399361|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RALYL|ENST00000399361|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 31 19 31 0 0 ./. 0 5 1 7 43 75 43 75 1 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778766767 8 88210995 TTTACAGAA T 580 PASS - - - - - Del - D 88210995 88211007 8 120 1074.71 - - 1 1 1 - - ./. 0 0 0 0 24 25 24 25 0 0 ./. 9 11 11 13 59 54 59 54 11 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778766965 8 88661114 AGGCAAACAGGGTCT A 682 PASS - - - - - Del - D 88661114 88661131 14 169 1289.65 - - 1 1 1 - - ./. 0 0 0 0 26 29 26 29 0 0 ./. 12 12 12 12 61 50 61 50 12 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778767182 8 89168837 C CA 269 PASS MMP16 CCDS6246.1 r.? - - Ins intronic I 89168837 89168846 1 12 258.443 - - 8 1 1 MMP16|CCDS6246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MMP16|CCDS6246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 30 34 31 35 0 0 ./. 2 3 4 6 54 65 54 66 4 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778767653 8 90218924 C CA 509 PASS - - - - - Ins - I 90218924 90218932 1 30 477.6 - - 7 1 1 - - ./. 0 0 0 0 29 13 29 13 0 0 ./. 4 5 6 6 58 60 58 60 6 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778767955 8 90974632 C CT 960 PASS NBN CCDS6249.1 r.? - - Ins intronic I 90974632 90974639 1 77 850.137 - - 6 1 1 NBN|CCDS6249.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NBN|CCDS6249.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 30 26 30 0 0 ./. 10 6 11 6 69 47 69 47 11 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778768285 8 91770870 AAC A 300 PASS - - - - - Del - D 91770870 91770888 2 10 268.678 - - 8 1 1 - - ./. 0 0 0 0 19 24 19 24 0 0 ./. 1 4 1 4 40 47 40 47 1 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778769834 8 95275150 CA C 1020 PASS GEM CCDS6261.1 r.? - - Del upstream D 95275150 95275152 1 88 912.903 - - 1 1 1 GEM|CCDS6261.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 GEM|CCDS6261.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 17 18 17 18 0 0 ./. 7 10 11 12 46 59 46 59 11 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778769852 8 95331330 GTC G 360 PASS - - - - - Del - D 95331330 95331348 2 12 322.414 - - 8 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 5 1 6 2 65 38 65 38 6 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778770596 8 96159499 ACCCTGCAT A 568 PASS PLEKHF2 CCDS6267.1 r.? - - Del intronic D 96159499 96159508 8 121 1074.11 - - 1 1 1 PLEKHF2|CCDS6267.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLEKHF2|CCDS6267.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 17 22 17 0 0 ./. 10 10 10 11 52 38 52 38 10 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778772966 8 101059302 CA C 960 PASS RGS22 CCDS43758.1 r.? - - Del intronic D 101059302 101059307 1 77 859.77 - - 4 1 1 RGS22|CCDS43758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS22|CCDS43758.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 24 20 24 0 0 ./. 6 10 7 16 54 60 54 60 7 16 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778773140 8 101404935 A AT 1140 PASS - - - - - Ins - I 101404935 101404938 1 90 1005.92 - - 2 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 5 14 9 16 45 60 45 60 9 16 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778773965 8 102937030 CTTG C 776 PASS NCALD CCDS6292.1 r.? - - Del intronic D 102937030 102937038 3 70 804.228 - - 2 1 1 NCALD|CCDS6292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NCALD|CCDS6292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 22 23 22 0 0 ./. 6 9 10 14 62 47 62 47 10 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778775102 8 105089456 GT G 1196 PASS RIMS2 ENST00000507740 r.? - - Del intronic D 105089456 105089458 1 144 1179.77 - - 1 1 - RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 25 14 25 0 0 ./. 11 11 16 14 47 50 47 50 16 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778775467 8 105985862 AT A 780 PASS - - - - - Del - D 105985862 105985864 1 44 698.563 - - 1 1 1 - - ./. 0 0 0 0 27 22 27 22 0 0 ./. 3 10 14 12 43 77 43 77 14 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778776266 8 107845860 TG T 1140 PASS - - - - - Del - D 107845860 107845864 1 108 1019.77 - - 3 1 1 - - ./. 0 0 0 0 27 16 27 16 0 0 ./. 11 8 17 10 63 46 63 46 17 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778776416 8 108128787 TAC T 300 PASS - - - - - Del - D 108128787 108128806 2 10 267.474 - - 9 1 - - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 1 4 2 4 60 54 60 54 2 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778776576 8 108451652 TTC T 1080 PASS ANGPT1 CCDS6306.1 r.? - - Del intronic D 108451652 108451655 2 84 967.241 - - 1 1 1 ANGPT1|CCDS6306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANGPT1|CCDS6306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 18 25 18 0 0 ./. 13 5 15 7 56 44 56 44 15 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778777007 8 109266894 GTA G 1200 PASS - - - - - Del - D 109266894 109266897 2 117 1074.71 - - 1 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 8 12 9 13 52 55 52 55 9 13 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778777105 8 109456987 TATTTATACCTG T 522 PASS TTC35 CCDS6309.1 r.? - - Del intronic D 109456987 109457000 11 99 967.241 - - 1 1 1 TTC35|CCDS6309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC35|CCDS6309.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 19 27 19 0 0 ./. 10 8 10 8 54 45 54 45 10 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778778463 8 112784716 GT G 780 PASS - - - - - Del - D 112784716 112784721 1 56 696.155 - - 4 1 - - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 6 7 8 9 55 46 55 46 8 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778779493 8 115058638 AG A 538 PASS - - - - - Del - D 115058638 115058641 1 96 961.22 - - 2 1 1 - - ./. 0 0 0 0 19 24 19 24 0 0 ./. 7 11 8 14 35 65 35 65 8 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778779899 8 116298328 CGTAT C 476 PASS - - - - - Del - D 116298328 116298335 4 35 536.754 - - 1 1 1 - - ./. 0 0 0 0 21 20 21 20 0 0 ./. 4 6 4 7 45 44 45 44 4 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778781674 8 120401685 TCACGGTTGATGG T 522 PASS - - - - - Del - D 120401685 120401700 12 91 967.241 - - 1 1 1 - - ./. 0 0 0 0 27 26 27 26 0 0 ./. 6 12 7 14 54 42 54 42 7 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778782222 8 121188175 ACCTCTTATACTCC A 522 PASS COL14A1 CCDS34938.1 r.? - - Del intronic D 121188175 121188190 13 99 967.241 - - 1 1 1 COL14A1|CCDS34938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL14A1|CCDS34938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 15 22 15 0 0 ./. 10 8 11 9 56 51 56 51 11 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778782226 8 121191958 C CA 540 PASS COL14A1 CCDS34938.1 r.? - - Ins intronic I 121191958 121191967 1 30 478.202 - - 8 1 1 COL14A1|CCDS34938.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL14A1|CCDS34938.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 37 19 37 19 0 0 ./. 5 4 9 6 62 62 62 63 9 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778782380 8 121523154 A AG 420 PASS MTBP CCDS6333.1 r.? - - Ins intronic I 121523154 121523155 1 20 368.924 - - 0 1 1 MTBP|CCDS6333.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTBP|CCDS6333.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 19 21 19 0 0 ./. 4 3 7 5 43 70 44 70 7 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778784329 8 125126872 CT C 540 PASS FER1L6 CCDS43767.1 r.? - - Del intronic D 125126872 125126876 1 28 483.62 - - 3 1 1 FER1L6|CCDS43767.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FER1L6|CCDS43767.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 21 6 21 0 0 ./. 3 6 3 8 10 64 10 64 3 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778784403 8 125284473 A AC 1260 PASS - - - - - Ins - I 125284473 125284477 1 120 1115.2 - - 3 1 1 - - ./. 0 0 0 0 24 19 24 20 0 0 ./. 14 7 16 7 60 59 61 59 16 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778786493 8 128947225 C CT 360 PASS PVT1 CCDS3617.1 r.? - - Ins intronic I 128947225 128947235 1 16 318.801 - - 9 1 1 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 19 22 19 0 0 ./. 3 3 4 4 68 57 70 57 4 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778786780 8 129569607 TC T 360 PASS - - - - - Del - D 129569607 129569609 1 15 322.414 - - 1 1 1 - - ./. 0 0 0 0 18 20 18 20 0 0 ./. 2 4 2 7 59 57 59 57 2 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778788245 8 132518051 ACT A 300 PASS - - - - - Del - D 132518051 132518069 2 10 267.474 - - 8 1 - - - ./. 0 0 0 0 27 14 27 14 0 0 ./. 1 4 1 4 52 34 52 34 1 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778788725 8 133725733 GATGGTGCT G 290 PASS TMEM71 CCDS6366.1 r.? - - Del intronic D 133725733 133725744 8 36 537.356 - - 1 1 1 TMEM71|CCDS6366.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM71|CCDS6366.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 5 7 5 52 39 52 39 7 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778790022 8 136685977 TTC T 1049 PASS - - - - - Del - D 136685977 136685982 2 99 967.241 - - 2 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 8 10 8 12 62 64 62 64 8 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778791126 8 138870627 AAG A 300 PASS - - - - - Del - D 138870627 138870642 2 12 268.678 - - 7 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 3 3 3 45 66 45 66 3 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778791277 8 139122462 TCAG T 538 PASS - - - - - Del - D 139122462 139122469 3 35 537.356 - - 2 1 1 - - ./. 0 0 0 0 25 20 25 20 0 0 ./. 4 6 4 8 45 62 45 62 4 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778792334 8 141405120 TG T 1080 PASS TRAPPC9 CCDS34946.1 r.? - - Del intronic D 141405120 141405125 1 100 966.037 - - 4 1 1 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAPPC9|CCDS34946.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 10 29 10 0 0 ./. 9 9 12 14 50 50 50 50 12 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778794360 8 145666977 G GA 360 PASS NFKBIL2 CCDS34968.2 r.? - - Ins intronic I 145666977 145666987 1 15 318.199 - - 9 1 1 NFKBIL2|CCDS34968.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NFKBIL2|CCDS34968.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 25 22 25 0 0 ./. 4 2 5 2 48 50 48 50 5 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778796869 9 6503638 TTGTTTCCTAGTGTTTTTTTTTAAGCTCCTAAAGACAAATATTCAAGTTTTATAACAGCAGAAGATTGAATAGATAATACATGTTCATACTTTGGAATACTGTGCAAAACAGCTTTTTGAAAAAAGGCAGTCAGTATGTAATGACCTTGAGACACGTTGCCCATGATTTTTTTATTTTTTAAGTGAAAAATAGTTTGTCCCTGGAATGTGACATTTAGGGGGACATTGACTTTTTAACATCATATATTGACTTTGCAACTTTTCCTACCCAATACTC T 348 PASS UHRF2 CCDS6469.1 r.? - - Del intronic D 6503638 6503917 276 48 648.435 - - 1 1 1 UHRF2|CCDS6469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UHRF2|CCDS6469.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 7 5 0 0 10 11 17 16 7 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778799472 9 14050079 C CT 480 PASS - - - - - Ins - I 14050079 14050087 1 25 427.473 - - 7 1 1 - - ./. 0 0 0 0 26 21 26 21 0 0 ./. 4 4 7 7 26 24 27 25 7 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778814432 9 79592960 AC A 420 PASS - - - - - Del - D 79592960 79592968 1 20 377.05 - - 7 1 1 - - ./. 0 0 0 0 23 12 23 12 0 0 ./. 4 3 6 6 16 18 16 18 6 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778817979 9 91029315 ATGCCCTGTCCCTC A 261 PASS SPIN1 CCDS43843.1 r.? - - Del intronic D 91029315 91029330 13 30 486.326 - - 1 1 1 SPIN1|CCDS43843.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SPIN1|CCDS43843.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 18 15 18 0 0 ./. 4 5 3 5 17 23 18 23 4 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778819037 9 94765726 GCGCTA G 416 PASS - - - - - Del - D 94765726 94765732 5 28 482.112 - - 1 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 6 3 6 3 28 16 28 16 6 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778822619 9 106533783 CT C 300 PASS - - - - - Del - D 106533783 106533791 1 12 270.181 - - 7 1 1 - - ./. 0 0 0 0 13 22 13 22 0 0 ./. 2 3 3 5 15 18 15 18 3 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778826185 9 117099483 CGAGCTGGATG C 319 PASS AKNA CCDS6805.1 r.4323_4332delCAUCCAGCUC c.4161_4170delCATCCAGCTC p.I1388fs*5 Del frameshift D 117099483 117099497 10 30 590.786 - - 1 1 1 AKNA|CCDS6805.1|r.4323_4332delCAUCCAGCUC|c.4161_4170delCATCCAGCTC|p.I1388fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 AKNA|CCDS6805.1|r.4323_4332delCAUCCAGCUC|c.4161_4170delCATCCAGCTC|p.I1388fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 19 20 19 20 0 0 ./. 9 2 9 3 22 16 22 16 9 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778827684 9 121686829 AG A 420 PASS - - - - - Del - D 121686829 121686832 1 20 378.254 - - 2 1 1 - - ./. 0 0 0 0 23 22 23 22 0 0 ./. 3 4 4 5 19 20 19 20 4 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778828277 9 123703034 TCTGAAAGC T 261 PASS - - - - - Del - D 123703034 123703043 8 28 485.724 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 6 3 7 4 28 14 28 14 7 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778835988 X 5928035 AATGTATCCCACGTCCAGTT A 435 PASS NLGN4X CCDS14126.1 r.? - - Del intronic D 5928035 5928057 19 70 809.646 - - 1 1 1 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NLGN4X|CCDS14126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 6 9 6 8 37 24 37 25 6 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778836217 X 6617290 TAGAG T 689 PASS - - - - - Del - D 6617290 6617296 4 49 647.716 - - 2 1 - - - ./. 0 0 0 0 21 18 21 18 0 0 ./. 6 6 11 9 40 20 40 20 11 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778836449 X 7316173 AATTCCAAT A 609 PASS - - - - - Del - D 7316173 7316182 8 130 1133.5 - - 1 1 1 - - ./. 0 0 0 0 26 20 26 20 0 0 ./. 12 9 12 12 29 37 29 37 12 12 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778836714 X 8277403 TCATTTGATG T 435 PASS ENSG00000227978 ENST00000418307 r.? - - Del intronic D 8277403 8277413 9 72 809.044 - - 1 1 1 ENSG00000227978|ENST00000418307|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000227978|ENST00000418307|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 7 8 10 11 33 29 33 29 10 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778838734 X 14407738 CA C 960 PASS - - - - - Del - D 14407738 14407746 1 80 863.02 - - 7 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 7 9 8 14 21 34 21 34 8 14 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778839353 X 16141285 G GA 600 PASS GRPR CCDS14174.1 r.? - - Ins upstream I 16141285 16141292 1 27 533.141 - - 6 1 1 GRPR|CCDS14174.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 GRPR|CCDS14174.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 27 26 27 26 0 0 ./. 8 2 9 3 46 38 48 39 9 3 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778842947 X 25706778 A AT 360 PASS - - - - - Ins - I 25706778 25706787 1 16 320.246 - - 8 1 1 - - ./. 0 0 0 0 31 33 31 33 0 0 ./. 3 3 5 5 27 33 27 33 5 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778845241 X 32547496 CTTTTTTTTTTTTTTTTTTTTTTTTTT C 261 PASS DMD CCDS14233.1 r.? - - Del intronic D 32547496 32547534 26 24 481.573 - - 1 1 - DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 18 5 18 0 0 ./. 7 2 4 2 14 23 17 23 7 2 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778846865 X 38628042 ATTACTTTTTTACAGCCACTTTGTCCTGGATATTCTTCTTATTATTCTT A 348 PASS - - - - - Del - D 38628042 38628094 48 49 647.114 - - 1 1 1 - - ./. 0 0 0 0 15 23 15 23 0 0 ./. 6 6 1 2 13 16 18 20 6 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778854566 X 66435935 CTGTTTTGAGATATGTCCCATCA C 267 PASS - - - - - Del - D 66435935 66435958 22 56 701.693 - - 1 1 1 - - ./. 0 0 0 0 19 25 19 25 0 0 ./. 6 7 1 5 21 22 26 24 6 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778856293 X 71559916 C CT 1260 PASS HDAC8 CCDS14420.1 r.? - - Ins intronic I 71559916 71559918 1 112 1120.26 - - 1 1 1 HDAC8|CCDS14420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HDAC8|CCDS14420.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 16 19 17 0 0 ./. 15 6 21 7 45 36 45 36 21 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778859460 X 83086393 G GA 840 PASS - - - - - Ins - I 83086393 83086401 1 63 746.638 - - 7 1 1 - - ./. 0 0 0 0 13 28 13 29 0 0 ./. 8 6 8 9 32 41 32 41 8 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778859866 X 84325490 CTTACCAAATAATG C 464 PASS APOOL CCDS48138.1 r.? - - Del intronic D 84325490 84325506 13 80 863.622 - - 1 1 1 APOOL|CCDS48138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APOOL|CCDS48138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 29 19 29 0 0 ./. 9 7 10 8 31 30 31 30 10 8 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778860002 X 84782954 TAAGGCGCA T 580 PASS - - - - - Del - D 84782954 84782964 8 117 1078.93 - - 1 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 12 8 14 9 36 27 36 27 14 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778860868 X 87446088 CAT C 720 PASS - - - - - Del - D 87446088 87446091 2 45 647.716 - - 1 1 1 - - ./. 0 0 0 0 25 24 25 24 0 0 ./. 8 4 14 6 35 24 35 24 14 6 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778861713 X 90160650 TG T 595 PASS - - - - - Del - D 90160650 90160652 1 88 917.598 - - 1 1 1 - - ./. 0 0 0 0 28 12 28 12 0 0 ./. 7 10 16 15 38 36 38 36 16 15 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778864842 X 100026699 T TA 480 PASS - - - - - Ins - I 100026699 100026709 1 25 426.392 - - 9 1 1 - - ./. 0 0 0 0 16 16 16 17 0 0 ./. 4 4 8 11 31 30 31 30 8 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778868853 X 115195906 A AT 250 PASS - - - - - Ins - I 115195906 115195913 1 25 426.392 - - 6 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 4 4 6 5 28 44 28 45 6 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778869191 X 116272158 TCCA T 716 PASS - - - - - Del - D 116272158 116272162 3 63 755.669 - - 1 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 8 6 13 9 28 17 28 17 13 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778870831 X 121196352 G GA 300 PASS - - - - - Ins - I 121196352 121196362 1 10 266.872 - - 9 1 1 - - ./. 0 0 0 0 25 24 25 24 0 0 ./. 4 1 5 1 41 29 41 29 5 1 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778870853 X 121269491 AG A 1140 PASS - - - - - Del - D 121269491 121269493 1 108 1021.94 - - 1 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 11 8 11 10 25 26 25 26 11 10 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778871120 X 122295536 CATT C 898 PASS - - - - - Del - D 122295536 122295546 3 72 863.622 - - 3 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 5 11 6 11 27 21 27 21 6 11 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778873514 X 131560518 A AT 660 PASS MBNL3 CCDS14633.1 r.? - - Ins intronic I 131560518 131560527 1 40 586.515 - - 8 1 1 MBNL3|CCDS14633.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MBNL3|CCDS14633.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 19 26 19 0 0 ./. 4 7 6 9 24 36 25 37 6 9 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778873713 X 132395188 C CA 780 PASS - - - - - Ins - I 132395188 132395197 1 44 691.458 - - 8 1 1 - - ./. 0 0 0 0 16 19 16 20 0 0 ./. 10 3 12 4 29 17 29 18 12 4 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778875351 X 138330320 ACAAATACATGTATG A 348 PASS - - - - - Del - D 138330320 138330339 14 48 647.114 - - 1 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 5 7 5 7 16 25 16 25 5 7 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778877127 X 144800540 AATTTTGCC A 493 PASS - - - - - Del - D 144800540 144800550 8 78 915.792 - - 1 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 12 5 13 5 41 19 41 19 13 5 1 1 1 1 1 1 1 1 2823477 PD20404a PD20404b 2778877823 X 147153222 GA G 360 PASS - - - - - Del - D 147153222 147153229 1 15 323.858 - - 6 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 2 7 2 25 22 25 22 7 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773497184 1 63695991 T TA 360 PASS - - - - - Ins - I 63695991 63695993 1 12 319.033 - - 1 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 1 5 3 7 10 22 10 23 3 7 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773501680 1 78755681 G GT 300 PASS - - - - - Ins - I 78755681 78755691 1 10 259.84 - - 9 1 1 - - ./. 0 0 0 0 25 21 25 21 0 0 ./. 4 1 4 1 28 15 28 15 4 1 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773538521 1 214345486 T TA 660 PASS - - - - - Ins - I 214345486 214345494 1 42 584.893 - - 7 1 1 - - ./. 0 0 0 0 27 16 27 16 0 0 ./. 6 5 6 7 19 17 20 17 6 7 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773542999 1 228237495 C CT 300 PASS WNT3A CCDS1564.1 r.? - - Ins intronic I 228237495 228237504 1 6 264.656 - - 8 1 1 WNT3A|CCDS1564.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WNT3A|CCDS1564.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 21 19 21 0 0 ./. 5 0 7 1 30 23 30 23 7 1 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773548454 1 243228764 C CCATA 252 PASS - - - - - Ins - I 243228764 243228776 4 28 462.293 - - 2 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 6 3 7 11 21 11 21 3 7 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773564807 10 37550555 GTGTT G 360 PASS - - - - - Del - D 37550555 37550562 4 15 323.654 - - 1 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 4 2 6 3 26 13 26 13 6 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773569214 10 52969367 A AT 360 PASS PRKG1 CCDS7244.1 r.? - - Ins intronic I 52969367 52969375 1 16 320.042 - - 7 1 1 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKG1|CCDS7244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 17 15 0 0 ./. 3 3 6 8 27 23 27 23 6 8 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773571355 10 58853599 GA G 300 PASS - - - - - Del - D 58853599 58853605 1 12 268.508 - - 5 1 1 - - ./. 0 0 0 0 10 21 10 21 0 0 ./. 3 2 5 3 17 19 17 19 5 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773574317 10 67572891 G GT 360 PASS - - - - - Ins - I 67572891 67572893 1 15 320.042 - - 1 1 1 - - ./. 0 0 0 0 23 20 23 20 0 0 ./. 2 4 3 6 21 23 21 23 3 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773581450 10 89839612 CCTT C 300 PASS - - - - - Del - D 89839612 89839616 3 12 258.875 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 6 3 26 17 26 17 6 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773623111 11 84551186 G GA 307 PASS DLG2 CCDS41696.1 r.? - - Ins intronic I 84551186 84551193 1 12 316.517 - - 6 1 1 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 1 5 4 5 26 24 26 26 4 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773626054 11 95074977 GT G 420 PASS - - - - - Del - D 95074977 95074980 1 18 377.799 - - 2 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 2 5 2 6 9 24 9 24 2 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773631980 11 114231522 T TA 420 PASS - - - - - Ins - I 114231522 114231531 1 20 374.187 - - 8 1 1 - - ./. 0 0 0 0 21 14 21 14 0 0 ./. 4 3 5 4 17 15 17 16 5 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773663000 12 72017171 AGTCTT A 480 PASS ZFC3H1 CCDS41813.1 r.5067_5071delAAGAC c.4708_4712delAAGAC p.K1570fs*1 Del frameshift D 72017171 72017177 5 24 430.691 - - 1 1 1 ZFC3H1|CCDS41813.1|r.5067_5071delAAGAC|c.4708_4712delAAGAC|p.K1570fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ZFC3H1|CCDS41813.1|r.5067_5071delAAGAC|c.4708_4712delAAGAC|p.K1570fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 26 14 26 14 0 0 ./. 5 3 6 3 24 23 24 23 6 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773664858 12 77393753 AATT A 807 PASS - - - - - Del - D 77393753 77393758 3 70 809.202 - - 1 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 6 9 8 9 23 33 23 33 8 9 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773667133 12 85087930 AG A 1020 PASS - - - - - Del - D 85087930 85087932 1 88 917.778 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 10 7 12 8 97 88 97 88 12 8 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773668935 12 88690389 TTG T 300 PASS - - - - - Del - D 88690389 88690407 2 12 269.935 - - 8 1 - - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 2 3 2 3 48 49 48 49 2 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773669451 12 90103175 TGC T 269 PASS - - - - - Del - D 90103175 90103193 2 12 261.506 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 2 3 3 4 50 64 50 64 3 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773669707 12 90689019 AT A 360 PASS - - - - - Del - D 90689019 90689029 1 15 323.922 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 2 4 3 60 58 60 58 4 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773670488 12 92298096 A AT 480 PASS - - - - - Ins - I 92298096 92298104 1 24 422.865 - - 7 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 5 3 6 6 74 103 75 104 6 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773671609 12 94607648 T TG 480 PASS PLXNC1 CCDS9049.1 r.? - - Ins intronic I 94607648 94607649 1 24 415.038 - - 0 1 1 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLXNC1|CCDS9049.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 3 5 4 47 39 47 43 5 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773674005 12 99571124 C CT 600 PASS ANKS1B ENST00000329257 r.? - - Ins intronic I 99571124 99571133 1 32 532.043 - - 8 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 21 9 22 0 0 ./. 3 7 5 9 32 30 32 32 5 9 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773674093 12 100045929 GAC G 300 PASS FAM71C CCDS9072.1 r.? - - Del downstream D 100045929 100045947 2 12 269.333 - - 8 1 1 FAM71C|CCDS9072.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 2 3 2 33 20 33 20 3 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773694389 13 43271649 TTG T 300 PASS - - - - - Del - D 43271649 43271666 2 10 267.218 - - 8 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 1 4 1 4 25 20 25 20 1 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773713592 13 101662518 C CT 300 PASS - - - - - Ins - I 101662518 101662525 1 10 267.82 - - 6 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 4 1 4 1 22 13 23 13 4 1 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773713864 13 102436462 TG T 509 PASS FGF14 CCDS9500.1 r.? - - Del intronic D 102436462 102436464 1 28 487.494 - - 1 1 1 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGF14|CCDS9500.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 3 6 5 9 20 30 20 30 5 9 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773717310 13 112795365 GA G 480 PASS - - - - - Del - D 112795365 112795367 1 21 433.328 - - 1 1 1 - - ./. 0 0 0 0 4 19 4 19 0 0 ./. 2 6 3 7 8 23 8 23 3 7 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773722652 14 32353504 ATG A 300 PASS - - - - - Del - D 32353504 32353522 2 12 270.999 - - 8 1 1 - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 3 2 4 2 27 23 27 23 4 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773725488 14 40630044 AG A 300 PASS - - - - - Del - D 40630044 40630046 1 12 270.999 - - 1 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 3 2 3 3 17 20 17 20 3 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773732747 14 62620418 A AT 540 PASS - - - - - Ins - I 62620418 62620422 1 28 480.574 - - 3 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 6 3 10 5 27 28 27 29 10 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773738806 14 80008313 G GT 540 PASS NRXN3 CCDS45145.1 r.? - - Ins intronic I 80008313 80008315 1 30 482.38 - - 1 1 1 NRXN3|CCDS45145.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRXN3|CCDS45145.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 9 8 9 0 0 ./. 5 4 8 5 24 22 24 23 8 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773741480 14 88882998 CA C 300 PASS SPATA7 CCDS9883.1 r.? - - Del intronic D 88882998 88883005 1 12 270.999 - - 6 1 1 SPATA7|CCDS9883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPATA7|CCDS9883.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 3 3 5 23 27 23 27 3 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773755850 15 42149880 TG T 300 PASS MAPKBP1 CCDS45239.1 r.? - - Del intronic D 42149880 42149883 1 10 271.213 - - 2 1 1 MAPKBP1|CCDS45239.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 SPTBN5|ENST00000320955|r.8482delC|c.8254delC|p.H2752fs*59|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 1 7 1 25 17 25 17 7 1 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773811584 17 19356842 CAGA C 1229 PASS - - - - - Del - D 19356842 19356846 3 102 1136.05 - - 1 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 16 8 23 23 43 23 43 8 23 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773835056 17 76651394 A AC 300 PASS - - - - - Ins - I 76651394 76651403 1 12 267.162 - - 8 1 1 - - ./. 0 0 0 0 20 19 20 19 0 0 ./. 2 3 1 0 23 31 23 31 3 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773851494 18 49531917 AG A 449 PASS - - - - - Del - D 49531917 49531919 1 21 428.676 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 6 2 8 8 16 26 16 26 8 8 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773860058 18 76004331 ACT A 840 PASS - - - - - Del - D 76004331 76004340 2 63 757.859 - - 4 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 8 6 9 7 26 28 26 28 9 7 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773860094 18 76097716 CT C 300 PASS - - - - - Del - D 76097716 76097723 1 6 271.309 - - 6 1 1 - - ./. 0 0 0 0 14 23 14 23 0 0 ./. 5 0 5 1 23 25 23 25 5 1 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773860958 19 707618 C CT 360 PASS PALM CCDS32857.1 r.? - - Ins upstream I 707618 707620 1 15 321.29 - - 1 1 1 PALM|CCDS32857.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 PALM|CCDS32857.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 2 5 5 23 15 23 15 5 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773866485 19 13212674 GCTGACCCTAGACCCCCAAACA G 290 PASS NFIX CCDS45996.1 r.? - - Del downstream D 13212674 13212703 21 35 541.905 - - 1 1 1 NFIX|CCDS45996.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LYL1|CCDS12292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 6 3 6 6 11 7 11 4 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773887196 2 10339918 A AAC 329 PASS C2orf48 CCDS1670.1 r.? - - Ins intronic I 10339918 10339920 2 7 310.711 - - 0 1 - C2orf48|CCDS1670.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C2orf48|CCDS1670.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 14 15 0 0 ./. 6 0 1 0 26 19 27 19 6 0 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773890183 2 20089928 C CA 300 PASS - - - - - Ins - I 20089928 20089930 1 10 265.949 - - 1 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 1 5 1 24 10 24 10 5 1 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773901830 2 56390418 CT C 281 PASS - - - - - Del - D 56390418 56390427 1 18 376.544 - - 8 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 5 2 5 2 25 14 25 14 5 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773927625 2 143412286 T TA 480 PASS - - - - - Ins - I 143412286 143412296 1 24 424.315 - - 9 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 5 3 6 4 23 18 23 18 6 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773933346 2 162716217 T TC 360 PASS SLC4A10 CCDS46438.1 r.? - - Ins intronic I 162716217 162716222 1 12 319.139 - - 4 1 1 SLC4A10|CCDS46438.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC4A10|CCDS46438.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 12 25 12 0 0 ./. 5 1 12 2 37 22 37 22 12 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773934846 2 168903664 T TA 269 PASS STK39 CCDS42770.1 r.? - - Ins intronic I 168903664 168903673 1 10 265.949 - - 8 1 1 STK39|CCDS42770.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STK39|CCDS42770.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 1 4 3 6 19 20 19 20 3 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773947241 2 207173103 G GA 660 PASS ZDBF2 CCDS46501.1 r.4237_4238insa c.3851_3852insA p.I1285fs*4 Ins frameshift I 207173103 207173106 1 36 583.283 - - 2 1 1 ZDBF2|CCDS46501.1|r.4237_4238insa|c.3851_3852insA|p.I1285fs*4|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ZDBF2|CCDS46501.1|r.4237_4238insa|c.3851_3852insA|p.I1285fs*4|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 15 7 15 8 0 0 ./. 8 3 10 6 22 15 22 15 10 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773954209 2 228513918 TATGG T 389 PASS - - - - - Del - D 228513918 228513924 4 18 376.544 - - 1 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 5 2 8 2 24 23 24 23 8 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773966008 20 23492580 C CA 540 PASS - - - - - Ins - I 23492580 23492586 1 28 483.39 - - 5 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 6 3 7 3 24 7 24 7 7 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2773979750 20 60858206 C CG 780 PASS OSBPL2 CCDS13495.1 r.? - - Ins intronic I 60858206 60858210 1 56 698.23 - - 3 1 1 OSBPL2|CCDS13495.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OSBPL2|CCDS13495.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 7 6 13 9 32 38 33 39 13 9 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774002249 22 30252140 GTCC G 300 PASS - - - - - Del - D 30252140 30252151 3 10 272.86 - - 3 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 1 4 1 4 16 19 16 19 1 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774004111 22 34930075 CA C 360 PASS - - - - - Del - D 34930075 34930085 1 15 327.432 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 2 4 3 18 14 18 14 4 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774020867 3 34648028 CCT C 360 PASS - - - - - Del - D 34648028 34648046 2 12 322.761 - - 8 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 5 1 5 18 26 18 26 1 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774021195 3 35712602 GGCTGCTTTCCTT G 319 PASS ENSG00000172995 CCDS2661.1 r.? - - Del intronic D 35712602 35712616 12 36 589.822 - - 1 1 1 ENSG00000172995|CCDS2661.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000172995|CCDS2661.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 9 21 9 0 0 ./. 8 3 8 3 27 20 27 20 8 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774027463 3 56609603 CAA C 480 PASS CCDC66 CCDS46852.1 r.? - - Del intronic D 56609603 56609608 2 24 429.946 - - 4 1 1 CCDC66|CCDS46852.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC66|CCDS46852.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 21 20 21 0 0 ./. 3 5 3 7 20 24 20 24 3 7 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774055363 3 149692550 CT C 300 PASS PFN2 CCDS3148.1 r.? - - Del upstream D 149692550 149692560 1 12 269.469 - - 9 1 1 PFN2|CCDS3148.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PFN2|ENST00000494827|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 2 4 4 18 19 18 19 4 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774056664 3 153708602 AAAC A 480 PASS - - - - - Del - D 153708602 153708610 3 21 428.14 - - 2 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 6 7 6 27 21 27 21 7 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774056678 3 153799499 C CA 360 PASS - - - - - Ins - I 153799499 153799501 1 15 319.751 - - 1 1 1 - - ./. 0 0 0 0 22 20 22 20 0 0 ./. 2 4 3 5 10 14 10 14 3 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774067070 3 188236821 ATAGT A 389 PASS LPP CCDS3291.1 r.? - - Del intronic D 188236821 188236831 4 18 377.257 - - 2 1 1 LPP|CCDS3291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPP|CCDS3291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 9 18 9 0 0 ./. 2 5 3 7 20 23 20 23 3 7 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774080582 4 27968143 A AT 420 PASS - - - - - Ins - I 27968143 27968147 1 18 372.469 - - 3 1 1 - - ./. 0 0 0 0 19 13 19 13 0 0 ./. 2 5 8 5 27 26 29 26 8 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774086722 4 43542474 C CT 409 PASS - - - - - Ins - I 43542474 43542484 1 18 367.05 - - 9 1 1 - - ./. 0 0 0 0 17 20 18 21 0 0 ./. 2 5 3 6 34 43 35 43 3 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774086818 4 43863008 CT C 420 PASS - - - - - Del - D 43863008 43863013 1 20 376.683 - - 4 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 4 3 10 9 32 20 32 20 10 9 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774088192 4 48376420 A AT 869 PASS SLAIN2 CCDS47051.1 r.? - - Ins intronic I 48376420 48376429 1 72 788.514 - - 8 1 1 SLAIN2|CCDS47051.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLAIN2|CCDS47051.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 8 7 11 7 31 31 31 31 11 7 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774090234 4 55146270 AATTGC A 478 PASS PDGFRA CCDS3495.1 r.? - - Del intronic D 55146270 55146276 5 28 482.501 - - 1 1 1 PDGFRA|CCDS3495.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDGFRA|CCDS3495.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 6 3 9 8 20 17 20 17 9 8 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774097371 4 73967152 A AG 720 PASS ANKRD17 CCDS34004.1 r.? - - Ins intronic I 73967152 73967159 1 40 636.711 - - 6 1 1 ANKRD17|CCDS34004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKRD17|CCDS34004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 16 19 0 0 ./. 3 9 4 14 25 45 26 45 4 14 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774100373 4 83225302 G GA 540 PASS - - - - - Ins - I 83225302 83225312 1 10 459.02 - - 9 1 1 - - ./. 0 0 0 0 14 29 14 30 0 0 ./. 0 9 1 11 17 50 17 50 1 11 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774101195 4 85000187 GATA G 329 PASS - - - - - Del - D 85000187 85000196 3 15 322.871 - - 2 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 4 5 5 21 31 21 31 5 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774103503 4 92194488 GTGTT G 389 PASS FAM190A CCDS47099.1 r.? - - Del intronic D 92194488 92194502 4 18 376.683 - - 3 1 1 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190A|CCDS47099.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 2 5 2 6 24 39 24 39 2 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774106251 4 100919857 AT A 780 PASS - - - - - Del - D 100919857 100919867 1 50 699.554 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 9 4 10 7 30 25 30 25 10 7 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774113716 4 123777230 G GA 600 PASS FGF2 CCDS34059.1 r.? - - Ins intronic I 123777230 123777240 1 27 532.098 - - 9 1 1 FGF2|CCDS34059.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FGF2|CCDS34059.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 20 15 20 0 0 ./. 8 2 11 3 28 31 29 31 11 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774125905 4 160088521 C CA 900 PASS RAPGEF2 ENST00000505478 r.? - - Ins intronic I 160088521 160088523 1 70 797.545 - - 1 1 1 RAPGEF2|ENST00000505478|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAPGEF2|ENST00000505478|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 6 9 7 11 24 24 24 25 7 11 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774126376 4 161473027 A AT 480 PASS - - - - - Ins - I 161473027 161473033 1 16 425.678 - - 5 1 1 - - ./. 0 0 0 0 17 13 18 13 0 0 ./. 1 7 2 9 25 37 26 38 2 9 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774128420 4 166386359 CATT C 420 PASS CPE CCDS3810.1 r.? - - Del intronic D 166386359 166386365 3 20 374.877 - - 1 1 1 CPE|CCDS3810.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPE|CCDS3810.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 3 4 4 6 15 22 15 22 4 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774128613 4 166997399 A AT 720 PASS TLL1 CCDS3811.1 r.? - - Ins intronic I 166997399 166997406 1 48 633.099 - - 6 1 1 TLL1|CCDS3811.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TLL1|CCDS3811.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 7 5 8 10 25 33 25 33 8 10 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774129312 4 168737168 C CA 697 PASS - - - - - Ins - I 168737168 168737175 1 45 638.518 - - 6 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 8 6 7 18 19 18 20 6 8 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774131145 4 174285405 G GA 900 PASS - - - - - Ins - I 174285405 174285415 1 70 798.147 - - 9 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 9 6 10 7 33 20 33 22 10 7 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774133956 4 181513163 T TA 420 PASS - - - - - Ins - I 181513163 181513173 1 8 371.867 - - 9 1 - - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 7 0 10 6 33 23 33 23 10 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774145374 5 18821358 G GA 300 PASS - - - - - Ins - I 18821358 18821366 1 10 266.802 - - 7 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 1 4 4 4 17 19 17 20 4 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774191670 5 180039952 A AC 449 PASS FLT4 CCDS4457.1 r.? - - Ins intronic I 180039952 180039958 1 25 420.261 - - 5 1 1 FLT4|CCDS4457.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FLT4|CCDS4457.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 19 8 19 0 0 ./. 4 4 7 4 19 22 19 24 7 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774192660 6 2337232 GAC G 300 PASS - - - - - Del - D 2337232 2337252 2 12 268.457 - - 9 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 3 2 3 2 21 32 21 32 3 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774194703 6 7665464 A AT 300 PASS - - - - - Ins - I 7665464 7665473 1 10 266.049 - - 8 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 1 4 3 26 20 26 20 4 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774201159 6 25110860 T TTGTTA 598 PASS CMAH ENST00000436589 r.? - - Ins intronic I 25110860 25110862 5 40 559.54 - - 0 1 1 CMAH|ENST00000436589|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CMAH|ENST00000436589|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 7 4 7 4 26 26 26 26 7 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774207887 6 41808123 A AG 300 PASS USP49 CCDS4861.1 r.? - - Ins intronic I 41808123 41808124 1 10 260.631 - - 0 1 - USP49|CCDS4861.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 USP49|CCDS4861.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 4 1 5 20 24 20 24 1 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774213954 6 57678924 GA G 480 PASS - - - - - Del - D 57678924 57678928 1 21 431.458 - - 3 1 1 - - ./. 0 0 0 0 23 12 23 12 0 0 ./. 6 2 7 5 21 12 21 12 7 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774221503 6 84566459 ACTT A 389 PASS CYB5R4 CCDS5000.2 r.? - - Del upstream D 84566459 84566465 3 18 377.526 - - 1 1 1 CYB5R4|CCDS5000.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RIPPLY2|CCDS34493.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 16 24 16 0 0 ./. 5 2 6 2 18 25 18 25 6 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774224061 6 92711923 CAAAT C 358 PASS - - - - - Del - D 92711923 92711929 4 20 377.526 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 4 3 5 21 15 21 15 3 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774224588 6 94620753 A ATC 480 PASS - - - - - Ins - I 94620753 94620765 2 24 421.825 - - 5 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 3 5 3 23 16 23 16 5 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774231258 6 115972077 AAC A 269 PASS - - - - - Del - D 115972077 115972096 2 10 269.661 - - 9 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 1 4 1 20 17 20 17 4 1 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774233963 6 125057888 G GA 420 PASS NKAIN2 CCDS34526.1 r.? - - Ins intronic I 125057888 125057895 1 20 373.312 - - 6 1 1 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 4 3 4 16 20 16 20 3 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774235699 6 131552919 A AT 300 PASS AKAP7 CCDS5142.1 r.? - - Ins intronic I 131552919 131552920 1 12 266.651 - - 0 1 1 AKAP7|CCDS5142.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AKAP7|CCDS5142.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 5 4 13 15 13 15 5 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774241733 6 152397194 AAAT A 389 PASS ESR1 CCDS5234.1 r.? - - Del intronic D 152397194 152397203 3 18 377.526 - - 2 1 1 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 2 5 5 6 29 18 29 18 5 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774242934 6 155502555 TGA T 360 PASS TIAM2 CCDS34558.1 r.? - - Del intronic D 155502555 155502561 2 16 322.39 - - 2 1 1 TIAM2|CCDS34558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TIAM2|CCDS34558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 23 14 23 0 0 ./. 3 3 5 6 24 23 24 23 5 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774261978 7 41572967 TA T 360 PASS ENSG00000236089 ENST00000443116 r.? - - Del intronic D 41572967 41572970 1 15 323.758 - - 2 1 1 ENSG00000236089|ENST00000443116|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000236089|ENST00000443116|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 2 4 2 10 23 30 23 30 2 10 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774262630 7 43602501 G GA 360 PASS HECW1 CCDS5469.2 r.6402_6403insa c.? p.? Ins 3'UTR variant I 43602501 43602511 1 16 320.146 - - 9 1 1 HECW1|CCDS5469.2|r.6402_6403insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 HECW1|CCDS5469.2|r.6402_6403insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 14 21 14 21 0 0 ./. 3 3 3 4 25 24 25 24 3 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774272533 7 71710956 G GA 360 PASS CALN1 CCDS47603.1 r.? - - Ins intronic I 71710956 71710963 1 15 320.146 - - 6 1 1 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 13 11 0 0 ./. 2 4 4 5 16 20 16 20 4 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774291150 7 132787918 C CT 300 PASS - - - - - Ins - I 132787918 132787928 1 10 264.982 - - 9 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 4 1 7 2 22 20 22 20 7 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774302025 8 5850124 AT A 780 PASS - - - - - Del - D 5850124 5850129 1 50 701.303 - - 4 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 9 4 12 4 31 23 31 23 12 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774302269 8 6366599 G GA 300 PASS MCPH1 CCDS43689.1 r.? - - Ins intronic I 6366599 6366608 1 12 266.721 - - 8 1 1 MCPH1|CCDS43689.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MCPH1|CCDS43689.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 18 11 19 0 0 ./. 2 3 3 3 16 18 16 19 3 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774307202 8 19652131 C CA 300 PASS - - - - - Ins - I 19652131 19652140 1 12 266.721 - - 8 1 1 - - ./. 0 0 0 0 16 14 16 16 0 0 ./. 3 2 3 4 28 22 29 22 3 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774318785 8 62493167 G GGCTGTGCT 290 PASS ASPH CCDS34898.1 r.? - - Ins intronic I 62493167 62493176 8 35 491.299 - - 1 1 1 ASPH|CCDS34898.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASPH|CCDS34898.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 6 4 5 18 25 18 26 4 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774322790 8 75788395 AAC A 300 PASS - - - - - Del - D 75788395 75788411 2 12 269.732 - - 7 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 3 2 3 2 43 46 43 46 3 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774322824 8 75844431 T TG 329 PASS - - - - - Ins - I 75844431 75844432 1 15 309.831 - - 0 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 2 4 4 7 68 66 68 66 4 7 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774323307 8 76786231 A ATTGTG 477 PASS - - - - - Ins - I 76786231 76786238 5 35 509.361 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 4 6 4 81 59 81 61 6 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774324083 8 79032091 G GA 300 PASS - - - - - Ins - I 79032091 79032099 1 12 266.721 - - 7 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 3 2 4 5 29 32 29 32 4 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774326802 8 86381011 CCA C 300 PASS CA2 CCDS6239.1 r.? - - Del intronic D 86381011 86381030 2 6 269.732 - - 9 1 - CA2|CCDS6239.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CA2|CCDS6239.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 0 5 0 5 28 28 28 28 0 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774326992 8 87194803 C CT 300 PASS - - - - - Ins - I 87194803 87194807 1 12 266.721 - - 3 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 3 2 5 21 26 21 26 2 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774330834 8 98682210 A AT 300 PASS MTDH CCDS6274.1 r.? - - Ins intronic I 98682210 98682218 1 6 258.895 - - 7 1 1 MTDH|CCDS6274.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTDH|CCDS6274.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 0 5 2 8 37 29 38 29 2 8 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774333567 8 105069307 TC T 389 PASS RIMS2 ENST00000507740 r.? - - Del intronic D 105069307 105069309 1 8 358.359 - - 1 1 - RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 7 0 18 0 67 41 67 41 18 0 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774334009 8 106080818 CA C 360 PASS - - - - - Del - D 106080818 106080828 1 12 323.678 - - 9 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 1 5 1 6 35 38 35 38 1 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774334880 8 108143593 CTG C 300 PASS - - - - - Del - D 108143593 108143613 2 10 266.119 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 1 4 1 5 37 41 37 41 1 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774335611 8 109571531 C CA 420 PASS - - - - - Ins - I 109571531 109571538 1 18 373.41 - - 6 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 2 5 3 6 88 65 88 65 3 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774335993 8 110297051 C CA 420 PASS NUDCD1 CCDS6312.1 r.? - - Ins intronic I 110297051 110297056 1 20 372.808 - - 4 1 1 NUDCD1|CCDS6312.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUDCD1|CCDS6312.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 18 25 18 0 0 ./. 4 3 5 5 131 109 133 114 5 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774336192 8 110652580 C CT 420 PASS ENSG00000147642 CCDS47912.1 r.? - - Ins intronic I 110652580 110652589 1 18 370.4 - - 8 1 1 ENSG00000147642|CCDS47912.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000147642|CCDS47912.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 21 14 22 0 0 ./. 2 5 3 6 74 97 74 98 3 6 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774336218 8 110701011 AG A 540 PASS ENSG00000147642 CCDS47912.1 r.? - - Del intronic D 110701011 110701013 1 28 482.507 - - 1 1 1 ENSG00000147642|CCDS47912.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000147642|CCDS47912.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 6 6 9 74 68 74 68 6 9 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774337614 8 113954366 G GT 420 PASS CSMD3 CCDS6315.1 r.? - - Ins intronic I 113954366 113954376 1 20 371.604 - - 9 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 4 3 4 4 60 66 60 66 4 4 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774340306 8 120493355 A AT 360 PASS - - - - - Ins - I 120493355 120493364 1 12 320.066 - - 8 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 1 7 3 68 52 68 53 7 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774341753 8 123486228 TTC T 360 PASS - - - - - Del - D 123486228 123486244 2 12 322.474 - - 7 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 1 5 1 31 34 31 34 5 1 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774342578 8 125046078 TTC T 360 PASS FER1L6 CCDS43767.1 r.? - - Del intronic D 125046078 125046082 2 15 323.678 - - 1 1 1 FER1L6|CCDS43767.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FER1L6|CCDS43767.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 2 4 3 59 40 59 40 4 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774343106 8 126052985 TGTAA T 358 PASS KIAA0196 CCDS6355.1 r.? - - Del intronic D 126052985 126052992 4 20 377.624 - - 1 1 1 KIAA0196|CCDS6355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0196|CCDS6355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 4 3 4 5 49 30 49 30 5 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774343107 8 126053245 GA G 360 PASS KIAA0196 CCDS6355.1 r.? - - Del intronic D 126053245 126053247 1 15 323.678 - - 1 1 1 KIAA0196|CCDS6355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0196|CCDS6355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 2 5 2 58 36 58 36 5 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774343109 8 126054149 TAAA T 778 PASS KIAA0196 CCDS6355.1 r.? - - Del intronic D 126054149 126054155 3 55 755.249 - - 5 1 1 KIAA0196|CCDS6355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0196|CCDS6355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 4 10 6 11 30 40 30 40 6 11 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774367934 9 81844957 AG A 269 PASS - - - - - Del - D 81844957 81844959 1 10 270.56 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 1 4 2 5 19 18 19 18 2 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774381139 9 124513419 GCTGCCCGGCTGCTGTGGACCTTTCCCC G 300 PASS DAB2IP CCDS6833.2 r.? - - Del intronic D 124513419 124513460 27 12 267.55 - - 1 1 1 DAB2IP|CCDS6833.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DAB2IP|CCDS6833.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 2 0 0 16 21 19 21 3 2 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774382027 9 127356073 GCT G 314 PASS NR6A1 CCDS35137.1 r.? - - Del intronic D 127356073 127356090 2 16 324.672 - - 8 1 1 NR6A1|CCDS35137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NR6A1|CCDS35137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 12 5 12 0 0 ./. 3 3 3 3 16 23 16 23 3 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774401474 X 70337842 A ATAT 300 PASS MED12 CCDS43970.1 r.? - - Ins upstream I 70337842 70337868 3 10 261.622 - - 8 1 - MED12|CCDS43970.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 MED12|CCDS43970.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 11 20 11 20 0 0 ./. 4 1 4 1 21 24 21 24 4 1 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774403562 X 79864331 T TA 300 PASS - - - - - Ins - I 79864331 79864338 1 10 267.643 - - 6 1 1 - - ./. 0 0 0 0 14 6 14 7 0 0 ./. 1 4 3 5 22 17 22 17 3 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774404462 X 83966567 C CT 276 PASS - - - - - Ins - I 83966567 83966575 1 12 267.041 - - 7 1 1 - - ./. 0 0 0 0 16 17 17 17 0 0 ./. 2 3 4 3 18 27 18 27 4 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774408270 X 100385988 G GT 300 PASS CENPI CCDS14479.1 r.? - - Ins intronic I 100385988 100385998 1 12 267.643 - - 9 1 1 CENPI|CCDS14479.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CENPI|CCDS14479.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 19 16 0 0 ./. 3 2 3 5 25 28 25 28 3 5 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774408737 X 102436013 GT G 360 PASS ENSG00000226623 ENST00000416953 r.? - - Del intronic D 102436013 102436017 1 12 324.784 - - 3 1 1 ENSG00000226623|ENST00000416953|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000226623|ENST00000416953|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 23 25 23 0 0 ./. 5 1 7 3 26 14 26 14 7 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774411810 X 116786632 TAA T 420 PASS - - - - - Del - D 116786632 116786636 2 20 377.108 - - 3 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 3 5 3 18 15 18 15 5 3 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774413225 X 122047589 A AG 420 PASS - - - - - Ins - I 122047589 122047594 1 14 372.894 - - 4 1 1 - - ./. 0 0 0 0 11 16 12 16 0 0 ./. 1 6 1 8 18 24 18 24 1 8 1 1 1 1 1 1 1 1 2820385 PD20403a PD20403b 2774414386 X 126666574 G GA 360 PASS - - - - - Ins - I 126666574 126666584 1 16 321.172 - - 9 1 1 - - ./. 0 0 0 0 26 17 26 17 0 0 ./. 3 3 5 3 16 18 16 18 5 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749866929 1 12111775 T TG 480 PASS - - - - - Ins - I 12111775 12111776 1 24 422.988 - - 0 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 3 5 3 9 31 24 31 24 3 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749869408 1 17871699 G GTATT 358 PASS ARHGEF10L CCDS182.1 r.? - - Ins intronic I 17871699 17871707 4 20 359.052 - - 1 1 1 ARHGEF10L|CCDS182.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 AL390994.1|ENST00000509615|r.952_953insuauu|-|-|non_protein_coding:exon:insertion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000667:SO:0001619 ./. 0 0 0 0 6 15 6 15 0 0 ./. 4 3 4 4 27 34 27 34 4 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749871135 1 22295830 C CA 276 PASS - - - - - Ins - I 22295830 22295840 1 6 265.497 - - 9 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 0 5 1 5 25 36 25 38 1 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749871438 1 22960481 G GT 300 PASS C1QA CCDS226.1 r.? - - Ins upstream I 22960481 22960491 1 12 264.895 - - 9 1 1 C1QA|CCDS226.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 C1QA|CCDS226.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 2 4 2 42 41 42 41 4 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749874471 1 30223621 TA T 300 PASS - - - - - Del - D 30223621 30223631 1 12 267.905 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 3 4 36 25 36 25 3 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749874949 1 31742230 TACCTG T 745 PASS SNRNP40 CCDS340.1 r.? - - Del intronic D 31742230 31742236 5 72 805.521 - - 1 1 1 SNRNP40|CCDS340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNRNP40|ENST00000373720|r.279_283delCAGGU|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 6 17 6 17 0 0 ./. 7 8 9 10 31 21 31 21 9 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749875561 1 33440225 CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGAGCCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCACCTCTCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGA C 330 PASS - - - - - Del - D 33440225 33440503 271 14 375.308 - - 1 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 6 1 0 0 19 24 25 25 6 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749876303 1 35931559 CACGTGGAACTGTAAGTCCATTAA C 261 PASS KIAA0319L CCDS390.1 r.? - - Del intronic D 35931559 35931585 23 18 482.71 - - 1 1 1 KIAA0319L|CCDS390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0319L|CCDS390.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 1 8 2 8 23 41 23 41 2 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749880860 1 47974247 A ACAT 267 PASS - - - - - Ins - I 47974247 47974250 3 15 310.769 - - 0 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 2 4 3 23 34 24 34 5 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749880952 1 48357305 C CA 360 PASS - - - - - Ins - I 48357305 48357312 1 15 317.994 - - 6 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 4 3 6 29 41 29 42 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749881515 1 50651969 AT A 300 PASS ELAVL4 CCDS44140.1 r.? - - Del intronic D 50651969 50651979 1 6 264.293 - - 9 1 1 ELAVL4|CCDS44140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELAVL4|CCDS44140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 0 5 1 5 48 31 48 31 1 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749883512 1 55876085 GAAAGCTACTATAAGTTTGCATT G 261 PASS - - - - - Del - D 55876085 55876109 22 30 482.71 - - 1 1 1 - - ./. 0 0 0 0 5 17 5 17 0 0 ./. 5 4 4 4 35 41 36 41 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749883849 1 57017704 GTATTACT G 493 PASS PPAP2B CCDS604.1 r.? - - Del intronic D 57017704 57017712 7 90 911.117 - - 1 1 1 PPAP2B|CCDS604.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPAP2B|CCDS604.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 9 8 9 8 28 32 28 32 9 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749887039 1 65646828 A ATGTGTGGG 377 PASS AK3L2 CCDS629.1 r.? - - Ins intronic I 65646828 65646847 8 56 634.3 - - 2 1 1 AK3L2|CCDS629.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AK3L2|CCDS629.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 7 8 0 0 ./. 7 6 6 5 20 31 21 32 7 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749888481 1 69722345 G GA 600 PASS - - - - - Ins - I 69722345 69722347 1 36 530.391 - - 1 1 1 - - ./. 0 0 0 0 3 15 3 15 0 0 ./. 5 5 8 6 34 35 36 36 8 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749894232 1 86380087 T TA 360 PASS COL24A1 CCDS41353.1 r.? - - Ins intronic I 86380087 86380088 1 15 303.544 - - 0 1 - COL24A1|CCDS41353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL24A1|CCDS41353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 9 11 0 0 ./. 2 4 5 6 28 30 30 30 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749896514 1 92909423 TAA T 720 PASS - - - - - Del - D 92909423 92909426 2 45 644.417 - - 2 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 8 4 9 5 36 28 36 28 9 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749905104 1 118159199 T TAC 360 PASS FAM46C CCDS896.1 r.? - - Ins intronic I 118159199 118159206 2 12 314.984 - - 3 1 1 FAM46C|CCDS896.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FAM46C|CCDS896.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 1 5 3 7 33 38 33 38 3 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749905147 1 118321673 G GA 305 PASS - - - - - Ins - I 118321673 118321683 1 15 317.392 - - 9 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 4 2 4 36 51 36 52 2 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749906443 1 142541013 GAATGGAATACAATGGAGTGGAATGC G 290 PASS ENSG00000238159 ENST00000426281 r.110_134del25 c.110_134del25 p.T40fs*>12 Del frameshift D 142541013 142541047 25 27 537.014 - - 1 1 - ENSG00000238159|ENST00000426281|r.110_134del25|c.110_134del25|p.T40fs*>12|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ENSG00000238159|ENST00000426281|r.110_134del25|c.110_134del25|p.T40fs*>12|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 26 38 26 41 0 0 ./. 2 8 0 0 56 125 57 131 2 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749912653 1 154087265 GT G 300 PASS NUP210L CCDS41399.1 r.? - - Del intronic D 154087265 154087267 1 6 266.701 - - 1 1 1 NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUP210L|CCDS41399.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 2 10 2 0 0 ./. 5 0 10 0 34 27 34 27 10 0 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749914447 1 158317229 GA G 360 PASS - - - - - Del - D 158317229 158317239 1 16 322.208 - - 9 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 3 5 6 41 30 41 30 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749915262 1 160441846 AT A 900 PASS - - - - - Del - D 160441846 160441855 1 70 804.919 - - 8 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 9 6 12 7 39 30 39 30 12 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749915956 1 162215559 AT A 420 PASS NOS1AP CCDS1237.1 r.? - - Del intronic D 162215559 162215563 1 14 375.91 - - 3 1 1 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NOS1AP|CCDS1237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 4 17 4 0 0 ./. 1 6 5 7 43 44 43 44 5 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749918174 1 167965780 CTATAGCTATACAGCAT C 261 PASS DCAF6 CCDS1267.2 r.? - - Del intronic D 167965780 167965798 16 30 476.69 - - 1 1 1 DCAF6|CCDS1267.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCAF6|CCDS1267.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 4 5 4 47 34 47 34 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749918359 1 168438480 G GT 300 PASS - - - - - Ins - I 168438480 168438490 1 10 265.497 - - 9 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 4 1 4 1 61 31 62 33 4 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749919835 1 172419427 G GTCAC 687 PASS C1orf105 CCDS1301.1 r.? - - Ins intronic I 172419427 172419432 4 54 663.199 - - 1 1 1 C1orf105|CCDS1301.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C1orf105|CCDS1301.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 9 6 9 0 0 ./. 5 8 5 9 43 40 43 40 5 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749921291 1 176218241 C CA 329 PASS - - - - - Ins - I 176218241 176218251 1 15 318.596 - - 9 1 1 - - ./. 0 0 0 0 9 19 9 19 0 0 ./. 4 2 4 2 42 37 42 37 4 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749923550 1 181830798 TA T 749 PASS - - - - - Del - D 181830798 181830802 1 50 697.516 - - 3 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 9 4 9 4 48 39 48 39 9 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749923584 1 181909625 T TA 360 PASS - - - - - Ins - I 181909625 181909631 1 7 318.596 - - 5 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 0 6 3 12 25 41 25 41 3 12 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749924994 1 185651917 AGATTACTACAGG A 348 PASS - - - - - Del - D 185651917 185651933 12 48 644.417 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 7 5 7 40 29 40 29 5 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749927819 1 192674782 TTC T 360 PASS - - - - - Del - D 192674782 192674800 2 15 317.994 - - 8 1 - - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 2 4 4 44 50 44 50 4 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749928344 1 193879529 AT A 360 PASS - - - - - Del - D 193879529 193879535 1 12 319.198 - - 5 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 1 5 1 7 57 41 57 41 1 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749928634 1 194437626 TTC T 509 PASS - - - - - Del - D 194437626 194437629 2 30 483.312 - - 1 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 5 4 5 4 36 36 36 36 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749928935 1 195083340 AT A 360 PASS - - - - - Del - D 195083340 195083350 1 16 322.208 - - 9 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 3 5 6 45 53 45 53 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749930815 1 200074923 G GA 420 PASS NR5A2 CCDS1401.1 r.? - - Ins intronic I 200074923 200074932 1 18 371.695 - - 8 1 1 NR5A2|CCDS1401.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NR5A2|CCDS1401.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 2 6 4 45 48 46 48 6 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749932119 1 202379041 TC T 780 PASS PPP1R12B CCDS30973.1 r.? - - Del intronic D 202379041 202379043 1 56 697.516 - - 1 1 1 PPP1R12B|CCDS30973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R12B|CCDS30973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 6 7 6 8 41 37 41 37 6 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749934162 1 206500688 AG A 367 PASS - - - - - Del - D 206500688 206500691 1 16 418.774 - - 2 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 1 7 1 8 15 53 15 53 1 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749935162 1 209135483 AT A 494 PASS - - - - - Del - D 209135483 209135489 1 30 483.312 - - 5 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 4 5 6 37 47 37 47 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749937233 1 213155778 AG A 540 PASS VASH2 CCDS1511.1 r.? - - Del intronic D 213155778 213155780 1 28 482.71 - - 1 1 1 VASH2|CCDS1511.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VASH2|CCDS1511.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 6 10 7 50 39 50 39 10 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749940825 1 221413263 A ACCT 1436 PASS - - - - - Ins - I 221413263 221413268 3 192 1346.27 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 15 11 16 13 56 47 57 48 16 13 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749941693 1 223464293 CAT C 269 PASS SUSD4 CCDS41471.1 r.? - - Del intronic D 223464293 223464310 2 12 268.507 - - 8 1 - SUSD4|CCDS41471.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUSD4|CCDS41471.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 2 5 3 37 40 37 40 5 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749941824 1 223837795 AAG A 300 PASS CAPN8 ENST00000366873 r.? - - Del intronic D 223837795 223837808 2 10 267.303 - - 6 1 1 CAPN8|ENST00000366873|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAPN8|ENST00000366873|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 4 1 5 1 60 54 60 54 5 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749942646 1 225383254 CTAA C 269 PASS DNAH14 CCDS44321.1 r.? - - Del intronic D 225383254 225383258 3 10 266.099 - - 1 1 1 DNAH14|CCDS44321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH14|CCDS44321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 1 4 2 4 37 46 37 46 2 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749942719 1 225566583 A AAC 449 PASS DNAH14 CCDS44321.1 r.? - - Ins intronic I 225566583 225566585 2 16 398.304 - - 0 1 - DNAH14|CCDS44321.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAH14|CCDS44321.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 7 1 9 40 58 42 59 1 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749943889 1 227500053 TAA T 838 PASS CDC42BPA CCDS1558.1 r.? - - Del intronic D 227500053 227500058 2 72 805.521 - - 4 1 1 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 8 7 9 10 53 50 53 50 9 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749946470 1 233285064 CT C 480 PASS PCNXL2 CCDS44335.1 r.? - - Del intronic D 233285064 233285066 1 24 429.611 - - 1 1 1 PCNXL2|CCDS44335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCNXL2|CCDS44335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 5 9 9 52 52 52 52 9 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749946693 1 233791647 T TG 540 PASS KCNK1 CCDS1599.1 r.? - - Ins intronic I 233791647 233791651 1 30 473.077 - - 3 1 1 KCNK1|CCDS1599.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNK1|CCDS1599.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 5 4 7 66 59 66 59 4 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749946944 1 234381555 TC T 300 PASS SLC35F3 CCDS1600.1 r.? - - Del intronic D 234381555 234381558 1 10 268.507 - - 2 1 1 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 1 4 3 4 32 52 32 52 3 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749947463 1 235325144 TCCAGC T 329 PASS RBM34 CCDS41477.1 r.? - - Del upstream D 235325144 235325152 5 16 322.208 - - 1 1 1 RBM34|CCDS41477.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 RBM34|CCDS41477.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 3 5 4 30 41 30 41 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749947876 1 235989587 A AC 660 PASS LYST CCDS31062.1 r.? - - Ins intronic I 235989587 235989591 1 30 584.093 - - 3 1 1 LYST|CCDS31062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LYST|CCDS31062.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 2 9 4 9 52 66 52 66 4 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749950284 1 240597456 A AT 298 PASS FMN2 CCDS31069.2 r.? - - Ins intronic I 240597456 240597464 1 15 318.596 - - 7 1 1 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMN2|CCDS31069.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 8 5 51 46 53 46 8 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749950988 1 241827242 G GT 300 PASS WDR64 ENST00000366552 r.? - - Ins intronic I 241827242 241827252 1 10 265.497 - - 9 1 1 WDR64|ENST00000366552|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR64|ENST00000366552|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 4 2 4 50 47 51 47 2 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749951120 1 242038299 A AT 660 PASS EXO1 CCDS1620.1 r.? - - Ins intronic I 242038299 242038307 1 42 584.093 - - 7 1 1 EXO1|CCDS1620.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EXO1|CCDS1620.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 6 5 9 6 60 42 61 42 9 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749951365 1 242363153 C CT 1260 PASS PLD5 CCDS1621.1 r.? - - Ins intronic I 242363153 242363162 1 130 1115.09 - - 8 1 1 PLD5|CCDS1621.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLD5|CCDS1621.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 12 9 14 12 64 64 65 64 14 12 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749951546 1 242637971 TG T 1109 PASS PLD5 CCDS1621.1 r.? - - Del intronic D 242637971 242637974 1 108 1019.72 - - 2 1 1 PLD5|CCDS1621.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLD5|CCDS1621.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 23 12 23 0 0 ./. 8 11 12 13 47 55 47 55 12 13 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749952048 1 243636880 C CA 569 PASS SDCCAG8 CCDS31075.1 r.? - - Ins intronic I 243636880 243636882 1 35 530.993 - - 1 1 1 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 5 9 5 0 0 ./. 4 6 4 7 40 37 40 37 4 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749952336 1 244305351 C CA 2309 PASS - - - - - Ins - I 244305351 244305358 1 390 2044.38 - - 6 1 - - - ./. 0 0 0 0 18 9 18 10 0 0 ./. 14 25 21 43 61 77 62 80 21 44 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749953061 1 245462219 T TC 480 PASS KIF26B CCDS44342.1 r.? - - Ins intronic I 245462219 245462221 1 25 424.795 - - 1 1 1 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIF26B|CCDS44342.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 4 4 6 4 51 46 51 47 6 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749953686 1 246558127 A ACTCAGCTACT 290 PASS SMYD3 CCDS31083.1 r.? - - Ins intronic I 246558127 246558140 10 32 476.808 - - 1 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 7 3 7 3 63 49 63 50 7 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749962790 10 17218864 ATATAG A 346 PASS TRDMT1 CCDS7115.1 r.? - - Del intronic D 17218864 17218870 5 8 376.341 - - 1 1 1 TRDMT1|CCDS7115.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRDMT1|CCDS7115.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 13 4 13 0 0 ./. 0 7 0 10 4 38 4 38 0 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749963519 10 19292329 CT C 300 PASS - - - - - Del - D 19292329 19292337 1 12 269.675 - - 7 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 3 5 7 35 36 35 36 5 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749964806 10 22841499 G GT 420 PASS PIP4K2A CCDS7141.1 r.? - - Ins intronic I 22841499 22841501 1 20 373.331 - - 1 1 1 PIP4K2A|CCDS7141.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PIP4K2A|CCDS7141.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 3 5 4 25 22 25 22 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749965779 10 25822997 G GCT 780 PASS GPR158 CCDS31166.1 r.? - - Ins intronic I 25822997 25822998 2 56 685.501 - - 0 1 1 GPR158|CCDS31166.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPR158|CCDS31166.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 7 12 7 41 33 42 33 12 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749970570 10 36968226 A AC 300 PASS - - - - - Ins - I 36968226 36968228 1 10 265.461 - - 1 1 1 - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 1 4 1 4 21 33 22 33 1 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749971957 10 42498158 CT C 480 PASS - - - - - Del - D 42498158 42498166 1 24 431.48 - - 7 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 3 5 7 6 37 42 37 42 7 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749972000 10 42537846 C CTG 290 PASS - - - - - Ins - I 42537846 42537847 2 13 632.771 - - 0 1 1 - - ./. 0 0 0 0 23 4 26 4 0 0 ./. 12 0 14 0 95 19 99 20 14 0 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749976144 10 55314508 TTC T 300 PASS - - - - - Del - D 55314508 55314512 2 12 269.675 - - 1 1 1 - - ./. 0 0 0 0 24 9 24 9 0 0 ./. 3 2 3 2 19 10 19 10 3 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749977980 10 59934368 GC G 840 PASS - - - - - Del - D 59934368 59934375 1 55 752.682 - - 6 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 10 5 12 21 41 21 41 5 12 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749978215 10 60524480 C CT 360 PASS BICC1 CCDS31206.1 r.? - - Ins intronic I 60524480 60524484 1 12 318.794 - - 3 1 1 BICC1|CCDS31206.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BICC1|CCDS31206.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 5 1 8 36 35 36 35 1 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749979501 10 64388515 TG T 525 PASS ZNF365 CCDS7264.1 r.? - - Del intronic D 64388515 64388518 1 35 539.35 - - 2 1 1 ZNF365|CCDS7264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF365|CCDS7264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 9 20 9 0 0 ./. 6 4 8 5 45 19 45 19 8 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749979639 10 64747534 C CT 300 PASS - - - - - Ins - I 64747534 64747544 1 6 260.042 - - 9 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 0 5 0 6 42 30 42 30 0 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749980568 10 67065687 CGT C 360 PASS - - - - - Del - D 67065687 67065705 2 16 323.61 - - 8 1 - - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 3 3 3 3 32 32 32 32 3 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749982561 10 71494464 ACG A 300 PASS - - - - - Del - D 71494464 71494468 2 10 269.675 - - 1 1 - - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 6 3 39 26 39 26 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749984938 10 78058321 CACCAAGT C 290 PASS C10orf11 CCDS7351.1 r.? - - Del intronic D 78058321 78058331 7 27 539.35 - - 1 1 1 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|CCDS7351.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 8 3 9 33 56 33 56 3 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749985552 10 80147550 TGGTCA T 534 PASS - - - - - Del - D 80147550 80147556 5 45 647.22 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 8 5 10 22 48 22 48 5 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749985969 10 81636710 A AG 281 PASS - - - - - Ins - I 81636710 81636716 1 25 426.663 - - 5 1 1 - - ./. 0 0 0 0 12 6 13 6 0 0 ./. 4 4 6 5 21 22 21 22 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749986593 10 83156783 A AT 420 PASS - - - - - Ins - I 83156783 83156791 1 14 373.331 - - 7 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 6 4 8 32 25 33 25 4 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749988424 10 88833934 ATGT A 689 PASS GLUD1 CCDS7382.1 r.? - - Del intronic D 88833934 88833941 3 45 647.22 - - 2 1 1 GLUD1|CCDS7382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLUD1|CCDS7382.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 4 10 4 0 0 ./. 4 8 5 12 45 32 45 32 5 12 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749989203 10 91366577 C CGGGG 377 PASS PANK1 CCDS31244.1 r.? - - Ins intronic I 91366577 91366579 4 20 359.483 - - 1 1 1 PANK1|CCDS31244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PANK1|CCDS31244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 14 10 0 0 ./. 3 4 3 4 18 33 18 33 3 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749991105 10 96498241 TCTGA T 420 PASS CYP2C18 CCDS7435.1 r.? - - Del downstream D 96498241 96498249 4 20 376.341 - - 1 1 1 CYP2C18|CCDS7435.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CYP2C18|CCDS7435.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 4 13 4 13 0 0 ./. 4 3 8 3 48 28 48 28 8 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749993433 10 102291158 CA C 480 PASS HIF1AN CCDS7498.1 r.? - - Del upstream D 102291158 102291166 1 24 431.48 - - 7 1 - HIF1AN|CCDS7498.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 HIF1AN|CCDS7498.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 5 6 5 35 36 35 36 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2749994859 10 105844556 AAGAG A 507 PASS COL17A1 CCDS7554.1 r.? - - Del intronic D 105844556 105844564 4 32 537.544 - - 3 1 1 COL17A1|CCDS7554.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 COL17A1|CCDS7554.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 7 4 8 30 43 30 43 4 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750006466 11 1407010 A AAG 329 PASS BRSK2 CCDS41590.1 r.? - - Ins upstream I 1407010 1407016 2 15 315.626 - - 2 1 - BRSK2|CCDS41590.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 BRSK2|CCDS41590.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 4 1 0 29 24 29 24 3 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750011482 11 14006754 CCATCATCACGTCAACA C 290 PASS SPON1 ENST00000310358 r.? - - Del intronic D 14006754 14006775 16 32 540.091 - - 1 1 1 SPON1|ENST00000310358|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPON1|ENST00000310358|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 7 3 6 3 32 25 33 25 7 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750016209 11 26220158 AG A 420 PASS - - - - - Del - D 26220158 26220160 1 20 378.064 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 6 7 28 34 28 34 6 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750017198 11 29073310 G GA 300 PASS - - - - - Ins - I 29073310 29073318 1 10 267.035 - - 7 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 1 4 1 5 28 40 28 40 1 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750019849 11 36716494 CTGTT C 369 PASS - - - - - Del - D 36716494 36716504 4 24 432.073 - - 2 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 5 4 6 32 34 33 34 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750019925 11 36962570 AAGC A 327 PASS - - - - - Del - D 36962570 36962576 3 18 378.064 - - 1 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 2 6 3 36 20 36 20 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750022646 11 44281862 CTG C 569 PASS ALX4 CCDS31468.1 r.? - - Del downstream D 44281862 44281868 2 20 539.489 - - 2 1 1 ALX4|CCDS31468.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ALX4|CCDS31468.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 13 12 13 12 0 0 ./. 1 9 1 9 28 43 28 43 1 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750027278 11 60146791 G GT 300 PASS MS4A7 CCDS7985.1 r.? - - Ins intronic I 60146791 60146793 1 10 266.433 - - 1 1 1 MS4A7|CCDS7985.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MS4A7|CCDS7985.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 1 9 2 41 32 41 33 9 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750031486 11 71145575 A AAAAGG 803 PASS DHCR7 CCDS8200.1 r.2546_2547insccuuu c.? p.? Ins 3'UTR variant I 71145575 71145582 5 90 863.367 - - 1 1 1 DHCR7|CCDS8200.1|r.2546_2547insccuuu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 DHCR7|CCDS8200.1|r.2546_2547insccuuu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 13 8 15 8 0 0 ./. 9 8 9 8 40 39 41 39 9 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750033138 11 75609019 T TTC 660 PASS UVRAG CCDS8241.1 r.? - - Ins intronic I 75609019 75609030 2 40 579.651 - - 5 1 1 UVRAG|CCDS8241.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UVRAG|CCDS8241.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 7 4 8 7 45 39 45 39 8 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750034915 11 80878555 TTCTT TTTG 418 PASS - - - - - Complex - DI 80878556 80878559 4 25 0 - - 0 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 4 0 0 31 27 31 27 4 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750040502 11 97770055 CTG C 600 PASS - - - - - Del - D 97770055 97770058 2 35 539.489 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 6 6 8 26 32 26 32 6 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750044992 11 109764909 CA C 960 PASS - - - - - Del - D 109764909 109764919 1 80 864.145 - - 9 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 9 7 10 8 34 30 34 30 10 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750045667 11 111551132 G GT 300 PASS SIK2 CCDS8347.1 r.? - - Ins intronic I 111551132 111551142 1 12 266.433 - - 9 1 1 SIK2|CCDS8347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SIK2|CCDS8347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 2 3 23 36 24 37 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750045955 11 112199063 T TG 420 PASS AP002841.2 ENST00000504610 r.? - - Ins intronic I 112199063 112199070 1 20 373.849 - - 6 1 1 AP002841.2|ENST00000504610|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AP002841.2|ENST00000504610|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 14 15 0 0 ./. 4 3 6 3 32 30 32 30 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750049259 11 121245806 ACT A 269 PASS - - - - - Del - D 121245806 121245823 2 10 268.239 - - 8 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 1 4 1 34 26 34 26 4 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750051164 11 126293813 CGCAGAGTTCAGCG C 435 PASS KIRREL3 ENST00000278934 r.2936_2948delCGCUGAACUCUGC c.? p.? Del 3'UTR variant D 126293813 126293830 13 66 804.116 - - 1 1 1 KIRREL3|ENST00000278934|r.2936_2948delCGCUGAACUCUGC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 KIRREL3|ENST00000278934|r.2936_2948delCGCUGAACUCUGC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 16 8 16 0 0 ./. 5 10 5 10 23 31 23 32 5 11 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750054461 12 1508870 TGTAGCATGTATCA T 261 PASS ERC1 CCDS8508.1 r.? - - Del intronic D 1508870 1508887 13 30 486.151 - - 1 1 1 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 5 3 5 28 32 29 32 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750055798 12 5197688 TGGCCTGACGTGGCAG T 348 PASS - - - - - Del - D 5197688 5197706 15 40 647.6 - - 1 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 9 3 9 27 37 27 37 3 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750056707 12 7545636 G GA 768 PASS CD163L1 CCDS8577.1 r.? - - Ins intronic I 7545636 7545645 1 60 739.98 - - 8 1 1 CD163L1|CCDS8577.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CD163L1|CCDS8577.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 9 5 9 7 37 44 37 44 9 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750057885 12 9796665 TA T 780 PASS - - - - - Del - D 9796665 9796668 1 56 702.219 - - 2 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 6 7 7 9 26 41 26 41 7 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750061513 12 18484127 T TA 360 PASS PIK3C2G CCDS44839.1 r.? - - Ins intronic I 18484127 18484135 1 12 319.887 - - 7 1 1 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 1 5 2 5 13 43 13 43 2 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750062227 12 20114386 TA T 660 PASS - - - - - Del - D 20114386 20114395 1 42 594.185 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 5 8 6 31 28 31 28 8 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750063482 12 23383284 TCTCTTATGGATAGTGGCTA T 348 PASS - - - - - Del - D 23383284 23383309 19 48 646.998 - - 1 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 5 7 3 5 27 26 29 28 5 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750067242 12 32329891 G GTAGT 480 PASS BICD1 CCDS8726.1 r.? - - Ins intronic I 32329891 32329898 4 24 412.869 - - 1 1 1 BICD1|CCDS8726.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BICD1|CCDS8726.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 5 10 8 38 37 39 37 10 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750068114 12 38206114 CT C 449 PASS - - - - - Del - D 38206114 38206119 1 24 432.135 - - 4 1 1 - - ./. 0 0 0 0 3 8 3 8 0 0 ./. 5 3 8 4 34 29 34 29 8 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750068365 12 38974647 G GT 300 PASS - - - - - Ins - I 38974647 38974655 1 10 266.472 - - 7 1 - - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 1 5 4 36 33 36 33 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750068537 12 39614013 CTG C 660 PASS - - - - - Del - D 39614013 39614018 2 36 593.583 - - 2 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 8 6 9 36 36 36 36 6 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750075504 12 58201898 TCACCTGCAC T 290 PASS AVIL CCDS8959.1 r.? - - Del intronic D 58201898 58201909 9 36 538.964 - - 1 1 1 AVIL|CCDS8959.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AVIL|CCDS8959.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 5 5 5 5 20 28 20 28 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750077414 12 64422175 A AAT 480 PASS SRGAP1 CCDS8967.1 r.? - - Ins intronic I 64422175 64422177 2 21 422.502 - - 0 1 1 SRGAP1|CCDS8967.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SRGAP1|CCDS8967.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 10 8 10 0 0 ./. 2 6 5 7 28 39 28 39 5 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750078217 12 66709604 TCTTACTTCC T 319 PASS HELB CCDS8976.1 r.? - - Del intronic D 66709604 66709618 9 36 591.175 - - 1 1 1 HELB|CCDS8976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HELB|CCDS8976.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 8 3 8 4 31 21 31 21 8 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750080721 12 73958565 C CG 900 PASS - - - - - Ins - I 73958565 73958572 1 70 800.017 - - 6 1 1 - - ./. 0 0 0 0 19 14 19 14 0 0 ./. 9 6 13 7 43 40 44 40 13 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750082853 12 80367598 CT C 600 PASS - - - - - Del - D 80367598 80367608 1 35 538.964 - - 9 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 6 4 6 5 32 31 32 31 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750084152 12 84630802 TG T 540 PASS - - - - - Del - D 84630802 84630804 1 30 486.151 - - 1 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 4 5 6 6 36 21 36 21 6 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750084356 12 85103719 A AAT 480 PASS - - - - - Ins - I 85103719 85103729 2 21 421.298 - - 4 1 1 - - ./. 0 0 0 0 16 15 17 15 0 0 ./. 6 2 6 3 35 32 35 33 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750085944 12 90189953 AAG A 300 PASS - - - - - Del - D 90189953 90189972 2 10 270.084 - - 9 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 1 4 1 33 14 33 14 4 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750088632 12 96778155 AC A 420 PASS CDK17 CCDS9061.1 r.? - - Del intronic D 96778155 96778158 1 20 378.118 - - 2 1 1 CDK17|CCDS9061.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CDK17|CCDS9061.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 3 7 3 28 37 28 37 7 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750088664 12 96834583 T TA 344 PASS - - - - - Ins - I 96834583 96834586 1 35 534.148 - - 2 1 1 - - ./. 0 0 0 0 14 8 14 9 0 0 ./. 4 6 4 7 28 38 28 39 4 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750091585 12 104865926 T TC 420 PASS CHST11 CCDS9099.1 r.? - - Ins intronic I 104865926 104865927 1 20 372.699 - - 0 1 - CHST11|CCDS9099.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHST11|CCDS9099.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 3 10 6 27 30 27 30 10 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750094169 12 112229709 G GA 300 PASS ALDH2 CCDS9155.1 r.? - - Ins intronic I 112229709 112229719 1 12 267.074 - - 9 1 1 ALDH2|CCDS9155.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ALDH2|CCDS9155.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 2 3 33 26 34 27 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750100100 12 126601534 AT A 480 PASS - - - - - Del - D 126601534 126601536 1 24 432.135 - - 1 1 1 - - ./. 0 0 0 0 17 5 17 5 0 0 ./. 3 5 4 6 28 36 28 36 4 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750101913 12 131007748 T TG 660 PASS - - - - - Ins - I 131007748 131007757 1 40 579.736 - - 8 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 4 7 4 8 38 38 39 38 4 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750101975 12 131201158 GCA G 269 PASS - - - - - Del - D 131201158 131201177 2 12 264.666 - - 9 1 - - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 2 3 21 28 21 28 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750102450 12 132380996 ACCAGGAACCTGAGGCGGGAGATCCGCCCCGCCAAAGTGCTGACTAATGGCTCTGTGACCTGTTTACTGAGCCCAGGGCC A 261 PASS ULK1 CCDS9274.1 r.? - - Del intronic D 132380996 132381077 79 30 486.151 - - 1 1 1 ULK1|CCDS9274.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ULK1|CCDS9274.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 9 2 9 0 0 ./. 5 4 0 0 17 32 22 36 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750113918 13 47181991 G GGA 660 PASS LRCH1 CCDS31972.1 r.? - - Ins intronic I 47181991 47181997 2 40 582.816 - - 2 1 1 LRCH1|CCDS31972.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRCH1|CCDS31972.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 7 4 7 22 25 22 25 4 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750116302 13 53899156 AT A 420 PASS - - - - - Del - D 53899156 53899166 1 20 378.709 - - 9 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 3 4 4 8 28 21 28 21 4 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750116868 13 56017171 C CA 420 PASS - - - - - Ins - I 56017171 56017180 1 14 375.097 - - 8 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 1 9 4 22 22 22 23 9 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750117476 13 58115086 TGAG TCA 269 PASS - - - - - Complex - DI 58115087 58115089 3 10 0 - - 0 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 1 0 0 30 26 30 26 4 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750120134 13 66287232 G GT 660 PASS - - - - - Ins - I 66287232 66287242 1 30 579.203 - - 9 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 2 9 4 10 41 36 41 37 4 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750121051 13 69112822 A AT 480 PASS - - - - - Ins - I 69112822 69112826 1 24 426.876 - - 3 1 1 - - ./. 0 0 0 0 15 18 15 19 0 0 ./. 3 5 5 9 19 31 19 31 5 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750123630 13 76190694 TA T 785 PASS LMO7 CCDS9454.1 r.? - - Del upstream D 76190694 76190696 1 64 757.419 - - 1 1 1 LMO7|CCDS9454.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LMO7|CCDS9454.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 14 11 14 11 0 0 ./. 7 7 9 12 34 32 34 32 9 12 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750128898 13 92904542 AT A 420 PASS GPC5 CCDS9468.1 r.? - - Del intronic D 92904542 92904548 1 20 379.312 - - 5 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 4 5 5 29 32 29 32 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750128986 13 93258103 GA G 358 PASS GPC5 CCDS9468.1 r.? - - Del intronic D 93258103 93258112 1 20 379.312 - - 8 1 1 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 3 7 6 18 21 18 21 7 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750134228 13 107963446 AT A 300 PASS FAM155A CCDS32006.1 r.? - - Del intronic D 107963446 107963455 1 12 270.335 - - 8 1 1 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 2 4 4 23 17 23 17 4 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750134322 13 108242140 CT C 540 PASS FAM155A CCDS32006.1 r.? - - Del intronic D 108242140 108242145 1 30 487.686 - - 4 1 1 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 4 8 6 26 30 26 30 8 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750136476 14 19013468 A AA 540 PASS - - - - - Ins - I 19013466 19013469 1 10 482.16 - - 2 1 1 - - ./. 0 0 0 0 11 24 11 24 0 0 ./. 0 9 0 1 57 164 57 165 0 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750141063 14 30370081 TTA T 1020 PASS PRKD1 CCDS9637.1 r.? - - Del intronic D 30370081 30370086 2 88 920.982 - - 2 1 1 PRKD1|CCDS9637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKD1|CCDS9637.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 10 7 15 9 44 32 44 32 15 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750142254 14 33430320 G GA 540 PASS NPAS3 CCDS9645.1 r.? - - Ins intronic I 33430320 33430329 1 30 482.16 - - 8 1 1 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NPAS3|CCDS9645.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 5 7 6 42 31 42 32 7 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750143637 14 36707918 G GGGA 960 PASS - - - - - Ins - I 36707918 36707924 3 72 833.693 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 11 6 11 33 43 33 44 6 11 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750146871 14 45418692 AATCAGCAACT A 261 PASS KLHL28 CCDS9680.1 r.? - - Del intronic D 45418692 45418704 10 28 486.977 - - 1 1 1 KLHL28|CCDS9680.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KLHL28|CCDS9680.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 3 6 3 31 24 31 24 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750148175 14 49166687 CAGG C 658 PASS - - - - - Del - D 49166687 49166693 3 45 647.697 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 8 7 9 31 41 31 41 7 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750149517 14 51906807 CA C 360 PASS - - - - - Del - D 51906807 51906812 1 15 325.052 - - 4 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 4 4 7 36 30 36 30 4 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750156251 14 70512373 GC G 480 PASS SLC8A3 CCDS35498.1 r.3828delG c.? p.? Del 3'UTR variant D 70512373 70512375 1 25 433.403 - - 1 1 1 SLC8A3|CCDS35498.1|r.3828delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SLC8A3|CCDS35498.1|r.3828delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 4 4 5 36 41 36 41 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750158170 14 74697755 G GA 300 PASS - - - - - Ins - I 74697755 74697765 1 12 260.642 - - 9 1 1 - - ./. 0 0 0 0 9 14 10 14 0 0 ./. 3 2 4 3 32 38 32 38 4 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750160426 14 80024948 AT A 360 PASS NRXN3 CCDS45145.1 r.? - - Del intronic D 80024948 80024950 1 12 324.45 - - 1 1 1 NRXN3|CCDS45145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRXN3|CCDS45145.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 9 21 9 0 0 ./. 5 1 7 4 43 24 43 24 7 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750161788 14 84342721 G GC 480 PASS - - - - - Ins - I 84342721 84342729 1 24 427.383 - - 7 1 1 - - ./. 0 0 0 0 9 16 10 16 0 0 ./. 3 5 4 5 32 36 33 36 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750162239 14 85615158 CT C 540 PASS - - - - - Del - D 85615158 85615167 1 28 483.364 - - 8 1 1 - - ./. 0 0 0 0 4 16 4 16 0 0 ./. 3 6 3 10 18 30 18 30 3 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750163725 14 89813348 GC G 420 PASS FOXN3 CCDS32138.1 r.? - - Del intronic D 89813348 89813355 1 20 378.024 - - 6 1 1 FOXN3|CCDS32138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FOXN3|CCDS32138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 10 6 10 0 0 ./. 4 3 7 3 26 29 26 29 7 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750164033 14 90459989 T TC 780 PASS TDP1 CCDS9888.1 r.? - - Ins intronic I 90459989 90459993 1 54 696.454 - - 3 1 1 TDP1|CCDS9888.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TDP1|CCDS9888.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 10 15 0 0 ./. 8 5 10 5 28 33 28 33 10 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750165105 14 93010364 A AC 300 PASS RIN3 CCDS32144.1 r.? - - Ins intronic I 93010364 93010372 1 10 267.867 - - 7 1 1 RIN3|CCDS32144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RIN3|CCDS32144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 1 4 2 4 15 24 15 24 2 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750172955 15 25572782 TGCTAT TTC 300 PASS - - - - - Complex - DI 25572783 25572787 5 12 0 - - 0 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 2 0 0 33 37 33 37 3 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750183881 15 54962628 AAC A 540 PASS - - - - - Del - D 54962628 54962632 2 28 477.682 - - 1 1 1 - - ./. 0 0 0 0 8 19 8 19 0 0 ./. 3 6 4 9 41 39 41 39 5 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750186053 15 60161417 GC G 360 PASS - - - - - Del - D 60161417 60161419 1 15 324.676 - - 1 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 2 11 4 43 34 43 34 11 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750186992 15 62779208 TA T 300 PASS - - - - - Del - D 62779208 62779212 1 12 270.463 - - 3 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 3 2 4 36 26 36 26 2 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750187698 15 64453582 G GT 540 PASS CSNK1G1 CCDS10192.2 r.? - - Ins downstream I 64453582 64453583 1 18 480.09 - - 0 1 1 CSNK1G1|CCDS10192.2|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 PPIB|CCDS10191.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 1 8 3 10 39 39 39 39 3 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750190493 15 71036167 ACCAGTGGCAATTTCCACACTACAAAACT A 261 PASS UACA CCDS10235.1 r.? - - Del intronic D 71036167 71036201 28 30 487.315 - - 1 1 1 UACA|CCDS10235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UACA|CCDS10235.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 4 5 4 4 39 27 39 28 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750190550 15 71210854 T TA 420 PASS LRRC49 CCDS32282.1 r.? - - Ins intronic I 71210854 71210864 1 20 375.277 - - 9 1 1 LRRC49|CCDS32282.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRC49|CCDS32282.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 4 3 7 44 35 44 35 3 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750191011 15 72482616 AGGCT A 360 PASS GRAMD2 CCDS32283.1 r.? - - Del intronic D 72482616 72482622 4 15 325.278 - - 1 1 1 GRAMD2|CCDS32283.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRAMD2|CCDS32283.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 4 4 5 36 35 36 35 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750191856 15 75081922 TTAATTC T 319 PASS CSK CCDS10269.1 r.? - - Del intronic D 75081922 75081930 6 40 592.731 - - 1 1 1 CSK|CCDS10269.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CSK|CCDS10269.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 4 7 7 7 24 37 24 40 7 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750192784 15 77664740 CA C 540 PASS - - - - - Del - D 77664740 77664745 1 30 487.917 - - 4 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 5 5 6 23 35 23 35 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750193196 15 78738780 C CGCTG 569 PASS IREB2 CCDS10302.1 r.? - - Ins intronic I 78738780 78738784 4 35 518.048 - - 0 1 1 IREB2|CCDS10302.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IREB2|CCDS10302.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 15 10 0 0 ./. 6 4 6 5 28 22 28 22 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750193239 15 78810113 GACCAATTT G 278 PASS AGPHD1 CCDS42063.1 r.? - - Del intronic D 78810113 78810124 8 32 542.13 - - 1 1 1 AGPHD1|CCDS42063.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGPHD1|CCDS42063.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 7 3 7 2 33 22 33 23 7 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750193584 15 79632241 G GATT 418 PASS TMED3 ENST00000424155 r.? - - Ins intronic I 79632241 79632246 3 24 418.05 - - 1 1 - TMED3|ENST00000424155|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMED3|ENST00000424155|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 5 3 10 28 53 28 53 3 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750194186 15 81044479 GC G 600 PASS FAM108C1 CCDS45323.1 r.? - - Del intronic D 81044479 81044481 1 36 541.528 - - 1 1 1 FAM108C1|CCDS45323.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM108C1|CCDS45323.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 5 6 7 28 31 28 31 6 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750196527 15 88080411 TCCAGGTCTCTTTGCAGAATA T 290 PASS - - - - - Del - D 88080411 88080436 20 32 540.324 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 7 3 7 4 39 33 39 33 7 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750204957 16 5844512 CGT C 300 PASS - - - - - Del - D 5844512 5844532 2 10 269.634 - - 9 1 - - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 1 4 1 38 27 38 27 4 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750210212 16 16251079 TA T 1440 PASS ABCC6 CCDS10568.1 r.? - - Del intronic D 16251079 16251082 1 168 1298.22 - - 2 1 1 ABCC6|CCDS10568.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCC6|CCDS10568.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 13 11 17 12 40 27 40 27 17 12 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750216778 16 32109208 CCTCT C 324 PASS - - - - - Del - D 32109208 32109218 4 15 757.143 - - 4 1 1 - - ./. 0 0 0 0 27 36 27 36 0 0 ./. 0 14 0 15 49 139 49 139 0 15 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750219880 16 46590868 G GA 336 PASS ANKRD26P1 ENST00000329373 r.? - - Ins intronic I 46590868 46590875 1 15 321.393 - - 6 1 1 ANKRD26P1|ENST00000329373|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKRD26P1|ENST00000329373|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 4 3 6 24 25 25 26 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750223894 16 58460801 G GGCT 420 PASS - - - - - Ins - I 58460801 58460807 3 20 362.918 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 4 3 9 29 32 29 32 3 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750224339 16 59457391 G GT 780 PASS - - - - - Ins - I 59457391 59457397 1 56 696.352 - - 5 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 6 7 7 7 28 41 28 42 7 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750225252 16 62105375 CA C 389 PASS - - - - - Del - D 62105375 62105379 1 18 365.928 - - 3 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 2 13 3 48 39 48 39 13 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750228488 16 71076910 AT A 480 PASS HYDIN2 CCDS42189.1 r.? - - Del intronic D 71076910 71076917 1 16 433.341 - - 6 1 1 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HYDIN2|CCDS42189.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 31 23 31 0 0 ./. 7 1 10 2 57 107 57 107 10 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750229008 16 72366227 G GT 420 PASS - - - - - Ins - I 72366227 72366233 1 8 374.357 - - 5 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 7 0 9 2 31 25 32 25 9 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750229067 16 72557735 GAGAA G 300 PASS - - - - - Del - D 72557735 72557750 4 6 270.838 - - 3 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 0 5 2 7 29 27 29 27 2 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750234272 16 84920895 CGTG C 538 PASS CRISPLD2 CCDS10949.1 r.? - - Del intronic D 84920895 84920899 3 35 541.676 - - 1 1 1 CRISPLD2|CCDS10949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRISPLD2|CCDS10949.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 6 6 7 26 31 26 31 6 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750236745 17 898225 C CT 300 PASS TIMM22 CCDS32521.1 r.? - - Ins upstream I 898225 898234 1 12 267.053 - - 8 1 1 TIMM22|CCDS32521.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TIMM22|CCDS32521.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 11 7 11 7 0 0 ./. 3 2 6 5 48 32 49 32 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750236752 17 914835 CA C 540 PASS ABR CCDS10999.1 r.? - - Del intronic D 914835 914840 1 30 485.391 - - 4 1 1 ABR|CCDS10999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABR|CCDS10999.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 5 4 6 6 33 31 33 31 6 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750236803 17 1025598 A AG 300 PASS ABR CCDS10999.1 r.? - - Ins intronic I 1025598 1025601 1 12 267.655 - - 2 1 1 ABR|CCDS10999.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ABR|CCDS10999.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 2 5 4 39 31 40 31 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750238106 17 3541128 GGTA G 660 PASS SHPK CCDS11030.1 r.? - - Del upstream D 3541128 3541134 3 42 595.463 - - 1 1 1 SHPK|CCDS11030.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CTNS|CCDS11031.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 5 6 5 8 35 37 35 37 5 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750239002 17 5287466 GTAA G 509 PASS RABEP1 CCDS45592.1 r.3725_3727delUAA c.? p.? Del 3'UTR variant D 5287466 5287470 3 30 486.595 - - 1 1 1 RABEP1|CCDS45592.1|r.3725_3727delUAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 RABEP1|CCDS45592.1|r.3725_3727delUAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 5 4 8 36 40 36 40 4 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750239395 17 6251095 TTGA T 420 PASS - - - - - Del - D 6251095 6251101 3 18 376.523 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 2 6 2 43 27 43 27 6 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750239951 17 7577501 GGAGTCTTCC GGAT 261 PASS TP53 CCDS11118.1 r.961_969delGGAAGACUCinsauc c.771_779delGGAAGACTCinsATC p.E258_D259delED Complex protein_coding:CDS:exon:indel:inframe_variant:inframe_codon_loss DI 7577502 7577510 9 28 0 - - 0 1 1 TP53|CCDS11118.1|r.961_969delGGAAGACUCinsauc|c.771_779delGGAAGACTCinsATC|p.E258_D259delED|protein_coding:CDS:exon:indel:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:1000032:SO:0001650:SO:0001652 TP53|CCDS11118.1|r.961_969delGGAAGACUCinsauc|c.771_779delGGAAGACTCinsATC|p.E258_D259delED|protein_coding:CDS:exon:indel:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:1000032:SO:0001650:SO:0001652 ./. 0 0 0 0 8 9 8 9 0 0 ./. 6 3 0 0 18 22 18 22 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750243695 17 17780420 C CA 540 PASS TOM1L2 CCDS42270.1 r.? - - Ins intronic I 17780420 17780422 1 28 474.554 - - 1 1 1 TOM1L2|CCDS42270.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TOM1L2|CCDS42270.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 6 3 8 4 34 21 34 22 8 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750248116 17 30337574 AT A 300 PASS - - - - - Del - D 30337574 30337579 1 6 270.665 - - 4 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 0 5 2 10 32 46 32 46 2 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750252079 17 38360547 GTT G 389 PASS - - - - - Del - D 38360547 38360553 2 20 378.931 - - 5 1 - - - ./. 0 0 0 0 3 7 3 7 0 0 ./. 4 3 5 9 146 156 146 156 5 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750252240 17 38434425 G GT 1558 PASS WIPF2 CCDS11364.1 r.? - - Ins intronic I 38434425 38434434 1 204 1439.92 - - 8 1 1 WIPF2|CCDS11364.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WIPF2|CCDS11364.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 6 12 6 0 0 ./. 16 11 23 15 136 122 148 122 24 15 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750256137 17 47112118 C CCA 569 PASS IGF2BP1 CCDS11543.1 r.? - - Ins intronic I 47112118 47112119 2 11 528.085 - - 0 1 - IGF2BP1|CCDS11543.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IGF2BP1|CCDS11543.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 0 10 1 0 63 49 66 51 1 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750257026 17 48239416 CT C 457 PASS SGCA CCDS32679.1 r.? - - Del upstream D 48239416 48239418 1 24 430.656 - - 1 1 1 SGCA|CCDS32679.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SGCA|CCDS32679.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 9 15 9 15 0 0 ./. 3 5 4 8 66 50 66 50 4 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750258650 17 51670912 C CT 2340 PASS - - - - - Ins - I 51670912 51670917 1 414 2084.09 - - 4 1 1 - - ./. 0 0 0 0 14 13 14 14 0 0 ./. 17 22 21 25 67 74 68 75 21 25 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750261926 17 57507875 TC T 420 PASS - - - - - Del - D 57507875 57507877 1 8 371.706 - - 1 1 - - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 7 0 37 0 142 91 142 91 37 0 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750262975 17 58461712 AAG A 360 PASS USP32 CCDS32697.1 r.? - - Del intronic D 58461712 58461716 2 15 321.788 - - 1 1 1 USP32|CCDS32697.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP32|CCDS32697.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 4 3 5 73 85 73 85 3 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750265472 17 63147773 C CAG 387 PASS RGS9 CCDS42373.1 r.? - - Ins intronic I 63147773 63147777 2 16 422.227 - - 1 1 1 RGS9|CCDS42373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RGS9|CCDS42373.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 1 7 1 8 32 38 32 38 1 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750266969 17 66059451 AG A 300 PASS - - - - - Del - D 66059451 66059453 1 12 270.063 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 4 5 20 44 20 44 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750267148 17 66334895 TGTAAAGCGCCCTGTTC T 841 PASS ARSG CCDS11676.1 r.? - - Del intronic D 66334895 66334915 16 234 1568.05 - - 1 1 1 ARSG|CCDS11676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARSG|CCDS11676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 12 17 12 16 48 66 48 67 12 17 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750268662 17 69909880 AT A 360 PASS - - - - - Del - D 69909880 69909882 1 7 324.798 - - 1 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 0 6 1 9 24 33 24 33 1 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750270740 17 74261880 CG C 300 PASS FAM100B CCDS11742.1 r.? - - Del intronic D 74261880 74261886 1 12 265.849 - - 5 1 1 FAM100B|CCDS11742.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM100B|CCDS11742.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 5 3 27 27 27 27 5 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750274116 18 498136 C CA 300 PASS COLEC12 CCDS32782.1 r.? - - Ins intronic I 498136 498138 1 10 268.072 - - 1 1 1 COLEC12|CCDS32782.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COLEC12|CCDS32782.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 4 1 6 21 31 21 31 1 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750276853 18 7228797 G GA 420 PASS LRRC30 CCDS42409.1 r.? - - Ins upstream I 7228797 7228804 1 20 375.301 - - 6 1 1 LRRC30|CCDS42409.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 LRRC30|CCDS42409.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 3 8 4 40 24 40 24 8 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750279856 18 14928447 C CTGA 298 PASS - - - - - Ins - I 14928447 14928453 3 15 314.461 - - 1 1 1 - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 4 2 5 2 44 31 45 31 5 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750280341 18 18640115 AG A 780 PASS ROCK1 CCDS11870.2 r.? - - Del intronic D 18640115 18640117 1 56 703.007 - - 1 1 1 ROCK1|CCDS11870.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROCK1|CCDS11870.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 6 7 8 8 33 35 33 35 8 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750280421 18 18910129 AG A 420 PASS GREB1L CCDS45836.1 r.? - - Del intronic D 18910129 18910131 1 8 379.515 - - 1 1 1 GREB1L|CCDS45836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GREB1L|CCDS45836.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 7 0 9 2 35 24 35 24 9 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750283355 18 27087717 GGAAGGGTCAT G 261 PASS - - - - - Del - D 27087717 27087730 10 24 487.948 - - 1 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 7 2 9 2 32 17 32 17 9 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750286116 18 35439161 G GT 600 PASS - - - - - Ins - I 35439161 35439169 1 35 535.542 - - 7 1 1 - - ./. 0 0 0 0 14 11 14 12 0 0 ./. 4 6 5 8 32 32 32 32 5 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750286793 18 37541141 T TA 420 PASS - - - - - Ins - I 37541141 37541149 1 20 371.688 - - 7 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 3 4 3 5 28 30 28 30 3 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750288234 18 41946964 GA G 600 PASS AC110014.1 ENST00000511428 r.? - - Del intronic D 41946964 41946974 1 36 536.746 - - 9 1 1 AC110014.1|ENST00000511428|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC110014.1|ENST00000511428|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 5 5 7 39 26 39 26 5 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750289434 18 45515924 G GA 360 PASS - - - - - Ins - I 45515924 45515934 1 12 319.278 - - 9 1 1 - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 1 5 1 5 41 39 41 39 1 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750290827 18 49373510 C CT 480 PASS - - - - - Ins - I 49373510 49373519 1 24 424.7 - - 8 1 1 - - ./. 0 0 0 0 20 14 20 14 0 0 ./. 3 5 7 7 45 32 46 33 7 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750291940 18 52375675 CAG C 420 PASS - - - - - Del - D 52375675 52375694 2 18 379.515 - - 9 1 1 - - ./. 0 0 0 0 14 3 14 3 0 0 ./. 5 2 6 3 49 24 49 24 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750292043 18 52613769 GCATTTTAT G 290 PASS CCDC68 CCDS11959.1 r.? - - Del intronic D 52613769 52613781 8 32 542.164 - - 1 1 1 CCDC68|CCDS11959.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CCDC68|CCDS11959.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 7 3 8 4 36 30 36 30 8 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750293457 18 56279365 T TG 780 PASS ALPK2 CCDS11966.2 r.? - - Ins intronic I 56279365 56279373 1 50 692.772 - - 7 1 1 ALPK2|CCDS11966.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ALPK2|CCDS11966.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 9 6 10 41 25 42 25 6 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750298005 18 68233519 C CTA 360 PASS AC013558.1 ENST00000511515 r.? - - Ins intronic I 68233519 68233524 2 12 318.074 - - 2 1 1 AC013558.1|ENST00000511515|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC013558.1|ENST00000511515|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 5 7 5 26 30 26 30 7 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750300826 18 75805102 TAGCCTT TAATA 385 PASS - - - - - Complex - DI 75805103 75805108 6 30 0 - - 0 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 5 0 0 38 29 38 29 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750301482 18 77579969 CTTCT CTAT 329 PASS - - - - - Complex - DI 77579970 77579973 4 15 0 - - 0 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 4 0 0 37 31 37 31 2 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750302552 19 2222893 C CA 360 PASS DOT1L CCDS42460.1 r.? - - Ins intronic I 2222893 2222903 1 16 312.423 - - 9 1 1 DOT1L|CCDS42460.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOT1L|CCDS42460.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 3 3 5 5 29 34 30 34 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750303243 19 3396210 C CTAT 269 PASS NFIC CCDS45914.1 r.? - - Ins intronic I 3396210 3396214 3 12 262.36 - - 1 1 1 NFIC|CCDS45914.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NFIC|CCDS45914.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 4 2 28 19 28 19 4 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750303708 19 4326775 T TC 360 PASS FSD1 CCDS12127.1 r.? - - Ins downstream I 4326775 4326781 1 15 319.648 - - 5 1 1 FSD1|CCDS12127.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 STAP2|CCDS12128.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 2 7 3 29 32 29 32 7 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750305293 19 7292103 C CCT 327 PASS INSR CCDS12176.1 r.? - - Ins intronic I 7292103 7292104 2 20 364.895 - - 0 1 1 INSR|CCDS12176.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 INSR|CCDS12176.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 3 0 0 35 23 36 24 4 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750306826 19 10045040 TC T 540 PASS OLFM2 CCDS12221.1 r.? - - Del intronic D 10045040 10045043 1 30 480.676 - - 2 1 1 OLFM2|CCDS12221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OLFM2|CCDS12221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 4 8 4 28 39 28 39 8 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750306909 19 10183444 AAG A 300 PASS - - - - - Del - D 10183444 10183460 2 10 269.584 - - 7 1 1 - - ./. 0 0 0 0 16 3 16 3 0 0 ./. 4 1 4 1 40 23 40 23 4 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750308244 19 13162047 A AG 300 PASS NFIX CCDS45996.1 r.? - - Ins intronic I 13162047 13162051 1 12 267.176 - - 3 1 1 NFIX|CCDS45996.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NFIX|CCDS45996.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 2 3 3 6 33 33 33 33 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750309064 19 14802876 TATTTTCACTGGGGTGCCCTC T 290 PASS ZNF333 CCDS12316.1 r.? - - Del intronic D 14802876 14802898 20 36 542.781 - - 1 1 1 ZNF333|CCDS12316.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF333|CCDS12316.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 5 5 4 3 28 24 29 26 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750310004 19 16456670 AACATATTGATATAATT A 261 PASS - - - - - Del - D 16456670 16456690 16 30 487.901 - - 1 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 4 5 4 4 25 33 25 33 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750312336 19 21533257 G GT 300 PASS - - - - - Ins - I 21533257 21533267 1 12 268.38 - - 9 1 1 - - ./. 0 0 0 0 17 6 17 6 0 0 ./. 3 2 3 2 30 32 30 32 3 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750313444 19 23794616 TC T 420 PASS - - - - - Del - D 23794616 23794618 1 14 372.12 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 6 1 8 4 21 16 21 16 8 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750315631 19 32380600 CT C 600 PASS - - - - - Del - D 32380600 32380604 1 27 542.781 - - 3 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 8 2 9 4 29 33 29 33 9 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750316215 19 33660776 A AT 300 PASS WDR88 CCDS12429.1 r.? - - Ins intronic I 33660776 33660780 1 6 261.758 - - 3 1 - WDR88|CCDS12429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR88|CCDS12429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 4 7 4 0 0 ./. 5 0 7 0 36 21 37 21 7 0 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750318820 19 39524091 C CAAA 447 PASS FBXO27 CCDS12527.1 r.? - - Ins upstream I 39524091 39524096 3 28 469.237 - - 4 1 1 FBXO27|CCDS12527.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 FBXO27|CCDS12527.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 6 3 8 33 43 33 43 3 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750328967 2 3011752 A AG 420 PASS - - - - - Ins - I 3011752 3011753 1 20 366.846 - - 0 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 4 3 6 44 30 45 31 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750329926 2 5826459 CTG C 300 PASS - - - - - Del - D 5826459 5826479 2 12 267.709 - - 9 1 - - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 3 2 5 1 34 26 34 26 5 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750332291 2 11811286 TG T 360 PASS NTSR2 CCDS1681.1 r.? - - Del upstream D 11811286 11811291 1 15 322.696 - - 4 1 1 NTSR2|CCDS1681.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 NTSR2|CCDS1681.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 2 9 3 36 22 36 22 9 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750332813 2 13583126 A AT 389 PASS - - - - - Ins - I 13583126 13583133 1 14 365.04 - - 6 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 1 6 2 6 25 40 28 41 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750338026 2 28631909 AAG A 300 PASS FOSL2 CCDS1766.1 r.? - - Del intronic D 28631909 28631924 2 10 268.311 - - 7 1 1 FOSL2|CCDS1766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FOSL2|CCDS1766.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 9 21 9 0 0 ./. 1 4 1 4 38 35 38 35 1 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750346991 2 52373346 T TTCA 269 PASS - - - - - Ins - I 52373346 52373351 3 10 259.882 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 1 4 1 4 33 34 34 35 1 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750347258 2 53370554 AAT A 300 PASS - - - - - Del - D 53370554 53370560 2 12 264.097 - - 2 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 2 3 3 35 27 35 27 3 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750347393 2 53807867 AT A 480 PASS ASB3 ENST00000406053 r.? - - Del intronic D 53807867 53807870 1 25 430.261 - - 2 1 1 ASB3|ENST00000406053|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ASB3|ENST00000406053|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 4 4 7 35 25 35 25 4 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750352425 2 67660331 C CT 540 PASS - - - - - Ins - I 67660331 67660338 1 30 478.626 - - 6 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 5 4 7 30 35 30 36 4 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750352427 2 67674897 CATGGA C 480 PASS - - - - - Del - D 67674897 67674904 5 24 429.659 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 3 5 3 5 18 30 18 30 3 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750352694 2 68392509 A AAAC 263 PASS PNO1 CCDS1885.1 r.? - - Ins intronic I 68392509 68392518 3 25 403.771 - - 2 1 - PNO1|CCDS1885.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PNO1|CCDS1885.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 9 0 0 ./. 4 4 2 0 39 24 41 25 6 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750353174 2 69825660 C CT 360 PASS AAK1 CCDS1893.2 r.? - - Ins intronic I 69825660 69825669 1 12 308.849 - - 8 1 - AAK1|CCDS1893.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AAK1|CCDS1893.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 1 6 1 40 39 41 39 6 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750353213 2 70008322 GTAACA G 445 PASS ANXA4 CCDS1894.1 r.? - - Del intronic D 70008322 70008329 5 35 537.827 - - 1 1 1 ANXA4|CCDS1894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ANXA4|CCDS1894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 4 6 4 34 28 34 28 6 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750354194 2 72620527 AT A 300 PASS EXOC6B CCDS46333.1 r.? - - Del intronic D 72620527 72620535 1 10 268.311 - - 7 1 1 EXOC6B|CCDS46333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC6B|CCDS46333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 1 4 4 6 22 34 22 34 4 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750358846 2 86238875 CTCT CG 300 PASS - - - - - Complex - DI 86238876 86238878 3 10 0 - - 0 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 1 4 0 0 28 28 28 28 1 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750362732 2 100554243 TGGTCAAACATGAGAG T 290 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100554243 100554259 15 35 537.827 - - 1 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 4 6 5 6 22 26 22 26 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750364072 2 105580236 AT A 660 PASS - - - - - Del - D 105580236 105580245 1 40 589.201 - - 8 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 7 4 9 8 23 32 23 32 9 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750364675 2 107269656 CT C 540 PASS - - - - - Del - D 107269656 107269658 1 30 483.442 - - 1 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 4 5 5 19 20 19 20 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750365995 2 112453909 CGT C 300 PASS - - - - - Del - D 112453909 112453926 2 12 268.913 - - 8 1 - - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 3 2 3 28 34 28 34 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750367736 2 117904172 T TA 449 PASS - - - - - Ins - I 117904172 117904178 1 24 423.639 - - 5 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 5 6 6 24 23 24 24 6 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750369244 2 122875924 A AT 480 PASS - - - - - Ins - I 122875924 122875932 1 24 425.445 - - 7 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 3 5 5 25 33 26 34 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750377040 2 146101317 TG T 600 PASS - - - - - Del - D 146101317 146101319 1 32 537.827 - - 1 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 7 3 8 4 26 20 26 20 8 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750383621 2 168298187 AG A 562 PASS - - - - - Del - D 168298187 168298189 1 35 537.827 - - 1 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 4 6 6 7 22 32 22 32 6 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750386136 2 174779739 G GCCTA 358 PASS SP3 CCDS2254.1 r.? - - Ins intronic I 174779739 174779746 4 8 359.621 - - 1 1 1 SP3|CCDS2254.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SP3|CCDS2254.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 7 0 7 0 30 29 30 30 7 0 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750386772 2 176801253 TC T 660 PASS KIAA1715 CCDS33332.1 r.? - - Del intronic D 176801253 176801256 1 36 591.609 - - 2 1 1 KIAA1715|CCDS33332.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1715|CCDS33332.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 8 3 11 4 40 15 40 15 11 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750393308 2 196427503 GA G 389 PASS - - - - - Del - D 196427503 196427506 1 18 376.479 - - 2 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 2 5 3 7 12 34 12 34 3 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750395991 2 203254855 GCTT G 656 PASS BMPR2 CCDS33361.1 r.? - - Del intronic D 203254855 203254861 3 56 694.96 - - 1 1 1 BMPR2|CCDS33361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BMPR2|CCDS33361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 6 7 11 8 29 25 29 25 11 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750401460 2 217606631 AGAGACTAT A 348 PASS - - - - - Del - D 217606631 217606642 8 45 644.79 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 8 4 8 32 29 33 30 5 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750401582 2 217941393 G GCCGC 300 PASS - - - - - Ins - I 217941393 217941396 4 6 256.872 - - 0 1 1 - - ./. 0 0 0 0 5 16 5 16 0 0 ./. 5 0 1 0 31 30 31 30 5 0 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750401862 2 218874629 CA C 660 PASS - - - - - Del - D 218874629 218874632 1 40 591.609 - - 2 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 4 7 6 11 20 27 20 27 6 11 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750401911 2 219010951 TCAAGTAAA T 290 PASS - - - - - Del - D 219010951 219010962 8 35 537.827 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 4 8 4 33 21 33 21 8 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750404812 2 226397514 G GTATA 358 PASS KIAA1486 CCDS46529.1 r.? - - Ins intronic I 226397514 226397519 4 20 357.815 - - 2 1 1 KIAA1486|CCDS46529.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA1486|CCDS46529.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 3 4 5 4 32 20 32 20 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750404935 2 226795663 GTAC G 300 PASS - - - - - Del - D 226795663 226795668 3 12 268.913 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 2 3 2 4 31 30 31 30 2 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750407175 2 232510651 T TG 360 PASS - - - - - Ins - I 232510651 232510652 1 15 318.482 - - 0 1 1 - - ./. 0 0 0 0 4 12 5 12 0 0 ./. 4 2 4 2 27 50 27 50 4 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750407631 2 233660127 TC T 900 PASS GIGYF2 CCDS33401.1 r.? - - Del intronic D 233660127 233660131 1 72 806.74 - - 3 1 1 GIGYF2|CCDS33401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GIGYF2|CCDS33401.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 8 7 10 10 33 32 33 32 10 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750408270 2 235286911 C CT 300 PASS - - - - - Ins - I 235286911 235286921 1 10 265.903 - - 9 1 1 - - ./. 0 0 0 0 12 4 12 4 0 0 ./. 1 4 1 4 46 36 46 36 1 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750416837 20 15277868 G GT 420 PASS MACROD2 CCDS13120.2 r.? - - Ins intronic I 15277868 15277871 1 20 376.092 - - 2 1 1 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MACROD2|CCDS13120.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 4 3 7 6 50 33 50 34 7 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750422530 20 30494462 C CT 420 PASS TTLL9 CCDS42863.1 r.? - - Ins intronic I 30494462 30494471 1 18 376.092 - - 8 1 1 TTLL9|CCDS42863.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTLL9|CCDS42863.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 4 11 5 0 0 ./. 5 2 8 4 50 30 50 31 8 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750425353 20 37911779 ATGTACGGGGAG AAT 261 PASS - - - - - Complex - DI 37911780 37911790 11 28 0 - - 0 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 6 3 0 0 29 25 29 25 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750426494 20 42105090 TC T 749 PASS - - - - - Del - D 42105090 42105093 1 54 706.284 - - 2 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 8 5 10 7 39 31 39 31 10 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750427289 20 44327230 A AC 269 PASS WFDC13 CCDS13367.1 r.? - - Ins upstream I 44327230 44327234 1 12 268.637 - - 3 1 1 WFDC13|CCDS13367.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 WFDC10B|CCDS13366.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 15 7 15 0 0 ./. 3 2 4 2 37 37 38 37 4 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750427567 20 45033581 AC A 300 PASS ELMO2 CCDS13398.1 r.? - - Del intronic D 45033581 45033583 1 10 269.842 - - 1 1 1 ELMO2|CCDS13398.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ELMO2|CCDS13398.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 4 1 6 1 29 16 29 16 6 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750430407 20 51783460 T TA 360 PASS TSHZ2 CCDS33490.1 r.? - - Ins intronic I 51783460 51783468 1 15 322.365 - - 7 1 1 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 2 6 2 46 27 47 27 6 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750431934 20 55327491 CCTGCCTAG C 406 PASS - - - - - Del - D 55327491 55327505 8 60 758.807 - - 1 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 9 6 9 29 34 29 35 6 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750432174 20 55864549 AATTCTTTGTCAT A 319 PASS - - - - - Del - D 55864549 55864562 12 36 597.625 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 8 6 9 41 52 41 52 6 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750433915 20 61408090 TG T 329 PASS - - - - - Del - D 61408090 61408093 1 12 324.171 - - 2 1 1 - - ./. 0 0 0 0 4 12 4 12 0 0 ./. 1 5 3 8 17 30 17 30 3 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750433931 20 61436509 A AC 600 PASS OGFR CCDS13504.1 r.? - - Ins intronic I 61436509 61436519 1 35 530.05 - - 9 1 1 OGFR|CCDS13504.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OGFR|CCDS13504.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 5 6 6 0 0 ./. 6 4 13 5 26 27 26 27 13 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750440002 21 18687874 G GA 600 PASS - - - - - Ins - I 18687874 18687883 1 35 532.859 - - 8 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 4 9 6 29 22 29 22 9 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750441465 21 22092709 A AT 360 PASS - - - - - Ins - I 22092709 22092711 1 15 322.605 - - 1 1 1 - - ./. 0 0 0 0 8 3 9 3 0 0 ./. 4 2 5 2 27 6 27 6 5 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750443339 21 26494800 A AG 360 PASS - - - - - Ins - I 26494800 26494805 1 15 322.605 - - 4 1 1 - - ./. 0 0 0 0 14 12 14 13 0 0 ./. 4 2 8 10 23 39 24 39 8 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750447901 21 37673276 GTACTTCTTGCAGCTCTTTGTGTTATA G 290 PASS - - - - - Del - D 37673276 37673304 26 36 543.696 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 5 4 3 31 30 32 32 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750453962 22 19314552 TC T 300 PASS HIRA CCDS13759.1 r.? - - Del downstream D 19314552 19314554 1 12 270.405 - - 1 1 1 HIRA|CCDS13759.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 HIRA|CCDS13759.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 2 4 27 25 27 25 2 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750455560 22 23381814 A AC 420 PASS - - - - - Ins - I 23381814 23381815 1 14 376.519 - - 0 1 1 - - ./. 0 0 0 0 7 12 8 12 0 0 ./. 1 6 1 8 28 36 29 36 1 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750456081 22 24948748 A AC 300 PASS C22orf13 CCDS33621.1 r.? - - Ins intronic I 24948748 24948749 1 10 269.2 - - 0 1 1 C22orf13|CCDS33621.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C22orf13|CCDS33621.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 13 8 0 0 ./. 4 1 6 5 34 34 34 34 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750457344 22 27738801 A AT 420 PASS - - - - - Ins - I 27738801 27738808 1 14 377.724 - - 6 1 1 - - ./. 0 0 0 0 7 18 7 18 0 0 ./. 1 6 6 8 25 29 25 30 6 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750460858 22 36046447 GTAATGATACATTCGTAAAATGAAA G 261 PASS APOL6 CCDS13919.1 r.? - - Del intronic D 36046447 36046473 24 28 489.257 - - 1 1 1 APOL6|CCDS13919.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 APOL6|CCDS13919.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 6 2 6 26 24 27 24 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750461002 22 36482547 A ACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGTTTTTTTTTAGACGGAGTTTCGCTCTATCT 261 PASS - - - - - Ins - I 36482547 36482570 68 24 117.786 - - 0 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 2 0 0 41 23 49 25 7 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750468480 3 3924467 T TA 480 PASS - - - - - Ins - I 3924467 3924476 1 21 426.08 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 6 2 9 45 43 45 43 2 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750473662 3 17327884 A AT 480 PASS TBC1D5 CCDS33714.1 r.? - - Ins intronic I 17327884 17327893 1 16 426.08 - - 8 1 1 TBC1D5|CCDS33714.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TBC1D5|CCDS33714.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 9 18 10 0 0 ./. 1 7 6 7 37 36 38 36 6 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750473751 3 17599942 TAA T 300 PASS TBC1D5 CCDS33714.1 r.? - - Del intronic D 17599942 17599945 2 12 269.31 - - 2 1 1 TBC1D5|CCDS33714.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TBC1D5|CCDS33714.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 2 3 3 21 32 21 32 3 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750475215 3 22196799 AT A 360 PASS - - - - - Del - D 22196799 22196808 1 16 323.172 - - 8 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 3 3 6 27 35 27 35 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750475452 3 23078035 CTA C 480 PASS - - - - - Del - D 23078035 23078041 2 24 428.488 - - 2 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 5 4 7 27 40 27 40 4 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750475453 3 23079702 G GA 300 PASS - - - - - Ins - I 23079702 23079712 1 12 262.687 - - 9 1 - - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 3 0 1 26 48 26 48 2 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750475517 3 23231859 CGT C 300 PASS - - - - - Del - D 23231859 23231874 2 12 260.881 - - 7 1 - - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 3 2 3 31 29 31 29 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750477212 3 28740319 TTCTA T 356 PASS - - - - - Del - D 28740319 28740329 4 25 430.896 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 4 7 5 37 38 37 38 7 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750478694 3 32856462 GT G 418 PASS TRIM71 CCDS43060.1 r.? - - Del upstream D 32856462 32856464 1 21 430.294 - - 1 1 1 TRIM71|CCDS43060.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TRIM71|CCDS43060.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 4 8 4 8 0 0 ./. 2 6 4 9 21 34 21 34 4 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750479761 3 35599878 CA C 360 PASS - - - - - Del - D 35599878 35599884 1 16 323.172 - - 5 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 3 3 5 30 23 30 23 3 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750480790 3 38942512 G GA 509 PASS SCN11A CCDS33737.1 r.? - - Ins intronic I 38942512 38942519 1 30 479.34 - - 6 1 1 SCN11A|CCDS33737.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCN11A|CCDS33737.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 20 15 20 0 0 ./. 4 5 5 8 23 31 23 31 5 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750482788 3 45128765 C CTG 509 PASS CDCP1 CCDS2727.1 r.? - - Ins intronic I 45128765 45128769 2 30 472.717 - - 1 1 1 CDCP1|CCDS2727.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDCP1|CCDS2727.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 5 6 6 31 26 31 26 6 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750483949 3 48115552 TG T 276 PASS MAP4 CCDS46818.1 r.? - - Del intronic D 48115552 48115554 1 6 269.31 - - 1 1 1 MAP4|CCDS46818.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAP4|CCDS46818.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 0 5 2 5 26 22 26 22 2 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750492915 3 73525596 ATCATCTCCCACCTGGACCCCCCT A 261 PASS PDZRN3 CCDS33789.1 r.? - - Del intronic D 73525596 73525623 23 30 484.758 - - 1 1 1 PDZRN3|CCDS33789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDZRN3|CCDS33789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 5 4 3 1 21 15 23 18 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750497931 3 86705179 T TA 300 PASS - - - - - Ins - I 86705179 86705189 1 10 266.3 - - 9 1 1 - - ./. 0 0 0 0 11 17 12 17 0 0 ./. 1 4 5 6 42 33 43 34 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750498968 3 89441661 C CA 720 PASS EPHA3 CCDS2922.1 r.? - - Ins intronic I 89441661 89441668 1 48 637.915 - - 6 1 1 EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 7 5 9 6 35 31 35 32 9 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750501043 3 99535887 TCC T 840 PASS C3orf26 CCDS2935.1 r.? - - Del upstream D 99535887 99535890 2 63 752.262 - - 2 1 1 C3orf26|CCDS2935.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 C3orf26|CCDS2935.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 6 8 6 0 0 ./. 8 6 9 6 30 46 30 46 9 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750510829 3 126540538 TTGTC T 720 PASS CHCHD6 CCDS3041.1 r.? - - Del intronic D 126540538 126540550 4 48 645.742 - - 2 1 1 CHCHD6|CCDS3041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHCHD6|CCDS3041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 5 7 7 9 31 34 31 34 7 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750512839 3 132638764 TA T 449 PASS - - - - - Del - D 132638764 132638774 1 21 419.457 - - 9 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 2 7 8 39 31 39 31 7 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750517330 3 145339148 CTTG C 660 PASS - - - - - Del - D 145339148 145339157 3 40 591.278 - - 2 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 4 7 5 8 26 33 26 33 5 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750529716 3 180569536 C CTCAT 449 PASS CCDC39 ENST00000471307 r.? - - Ins intronic I 180569536 180569541 4 24 408.62 - - 1 1 1 CCDC39|ENST00000471307|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CCDC39|ENST00000471307|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 5 3 7 20 35 20 35 3 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750531427 3 184908768 G GT 360 PASS EHHADH CCDS33901.1 r.3493_3494insa c.? p.? Ins 3'UTR variant I 184908768 184908774 1 15 319.56 - - 5 1 1 EHHADH|CCDS33901.1|r.3493_3494insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 EHHADH|CCDS33901.1|r.3493_3494insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 2 4 2 32 25 32 25 4 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750532227 3 186864325 CGA C 300 PASS RPL39L CCDS3286.1 r.? - - Del intronic D 186864325 186864341 2 6 265.698 - - 7 1 - RPL39L|CCDS3286.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RPL39L|CCDS3286.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 0 5 0 5 26 34 26 34 0 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750533700 3 190831443 G GT 480 PASS - - - - - Ins - I 190831443 190831450 1 24 426.08 - - 6 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 3 5 3 28 33 28 33 5 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750533719 3 190876071 AAG A 300 PASS - - - - - Del - D 190876071 190876089 2 12 267.504 - - 8 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 3 2 4 2 35 34 35 34 4 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750534340 3 192469820 TA T 360 PASS FGF12 CCDS46983.1 r.? - - Del intronic D 192469820 192469822 1 15 323.172 - - 1 1 1 FGF12|CCDS46983.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FGF12|CCDS46983.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 2 5 3 41 35 41 35 5 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750534611 3 193218137 TC T 540 PASS ATP13A4 CCDS3304.2 r.? - - Del intronic D 193218137 193218140 1 30 483.554 - - 2 1 1 ATP13A4|CCDS3304.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP13A4|CCDS3304.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 5 7 5 37 33 37 33 7 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750534903 3 194144478 C CA 420 PASS ATP13A3 CCDS43187.1 r.? - - Ins intronic I 194144478 194144483 1 20 370.411 - - 4 1 1 ATP13A3|CCDS43187.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP13A3|CCDS43187.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 3 5 9 36 23 37 23 5 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750535246 3 194988274 G GA 480 PASS C3orf21 CCDS43188.1 r.? - - Ins intronic I 194988274 194988281 1 9 426.08 - - 6 1 1 C3orf21|CCDS43188.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C3orf21|CCDS43188.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 8 0 12 1 37 29 37 30 12 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750542521 4 16533976 TAATA T 627 PASS LDB2 CCDS3420.1 r.? - - Del intronic D 16533976 16533985 4 48 645.505 - - 2 1 1 LDB2|CCDS3420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LDB2|CCDS3420.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 7 5 7 6 25 43 25 44 7 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750544081 4 21228482 GA G 360 PASS KCNIP4 CCDS43217.1 r.? - - Del intronic D 21228482 21228485 1 16 321.85 - - 2 1 1 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNIP4|CCDS43217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 3 8 7 37 34 37 34 8 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750547412 4 30512309 TA T 480 PASS - - - - - Del - D 30512309 30512318 1 24 430.738 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 5 3 7 26 33 26 33 3 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750547786 4 31467693 GAC G 360 PASS - - - - - Del - D 31467693 31467703 2 12 321.85 - - 4 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 1 5 1 7 32 39 32 39 1 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750548848 4 34940057 GTTAC G 749 PASS - - - - - Del - D 34940057 34940066 4 56 699.95 - - 2 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 7 6 7 9 37 29 37 29 7 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750549333 4 36196498 G GA 360 PASS ARAP2 CCDS3441.1 r.? - - Ins intronic I 36196498 36196507 1 12 319.441 - - 8 1 1 ARAP2|CCDS3441.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARAP2|CCDS3441.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 5 1 8 5 33 24 33 27 8 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750549987 4 37803039 AG A 300 PASS - - - - - Del - D 37803039 37803041 1 10 268.007 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 1 4 2 5 35 30 35 30 2 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750551765 4 41157622 CCAGA C 600 PASS APBB2 CCDS3837.1 r.? - - Del intronic D 41157622 41157632 4 36 536.015 - - 2 1 1 APBB2|CCDS3837.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 APBB2|CCDS3837.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 5 6 5 29 25 29 25 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750551766 4 41157822 ACAGACTAGTATAGGGTTTGGCAGATTTCAGGCCCTC A 319 PASS APBB2 CCDS3837.1 r.? - - Del intronic D 41157822 41157863 36 42 591.663 - - 1 1 1 APBB2|CCDS3837.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 APBB2|CCDS3837.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 6 5 3 2 24 31 27 34 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750554555 4 49111357 TC T 319 PASS ENSG00000232657 ENST00000417204 r.? - - Del upstream D 49111357 49111360 1 10 479.764 - - 2 1 1 ENSG00000232657|ENST00000417204|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000232657|ENST00000417204|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 37 10 44 10 0 0 ./. 0 9 0 1 140 93 162 106 0 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750555048 4 49292164 GA G 270 PASS - - - - - Del - D 49292164 49292166 1 77 861.477 - - 1 1 1 - - ./. 0 0 0 0 55 21 55 23 0 0 ./. 10 6 13 8 227 271 227 274 13 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750556126 4 54588111 ATG A 300 PASS AC110792.1 ENST00000511394 r.? - - Del intronic D 54588111 54588130 2 10 263.793 - - 9 1 - AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC110792.1|ENST00000511394|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 1 4 2 4 34 37 34 37 2 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750556715 4 56240690 C CTCAT 329 PASS SRD5A3 CCDS3498.1 r.? - - Ins downstream I 56240690 56240694 4 15 308.604 - - 0 1 1 SRD5A3|CCDS3498.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SRD5A3|CCDS3498.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 4 4 5 33 27 33 27 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750558064 4 59472833 T TA 480 PASS - - - - - Ins - I 59472833 59472840 1 24 425.32 - - 6 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 5 3 6 3 28 35 28 35 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750560411 4 65668865 C CA 660 PASS - - - - - Ins - I 65668865 65668873 1 42 584.438 - - 7 1 1 - - ./. 0 0 0 0 16 6 17 6 0 0 ./. 5 6 7 7 48 44 48 45 7 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750560944 4 67104766 G GT 300 PASS - - - - - Ins - I 67104766 67104773 1 12 266.201 - - 6 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 2 5 3 20 39 21 41 5 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750561740 4 69114734 T TTA 300 PASS TMPRSS11B CCDS3521.1 r.? - - Ins upstream I 69114734 69114751 2 10 263.191 - - 8 1 1 TMPRSS11B|CCDS3521.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TMPRSS11B|CCDS3521.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 7 9 7 9 0 0 ./. 1 4 2 5 13 21 13 21 2 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750562484 4 71289897 CA C 540 PASS - - - - - Del - D 71289897 71289902 1 28 479.764 - - 4 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 3 6 4 43 30 43 30 6 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750565603 4 80061881 G GT 480 PASS - - - - - Ins - I 80061881 80061889 1 25 425.922 - - 7 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 4 6 9 36 31 36 31 6 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750572303 4 99587783 TC T 360 PASS - - - - - Del - D 99587783 99587789 1 15 323.054 - - 5 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 2 4 4 4 40 33 40 33 4 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750573614 4 103453621 T TA 389 PASS NFKB1 CCDS3657.1 r.? - - Ins intronic I 103453621 103453629 1 20 362.447 - - 7 1 1 NFKB1|CCDS3657.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NFKB1|CCDS3657.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 3 4 3 8 22 36 22 36 3 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750574288 4 105950350 CA C 360 PASS - - - - - Del - D 105950350 105950353 1 15 323.054 - - 2 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 2 4 2 6 36 29 36 29 2 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750574968 4 108540729 T TA 420 PASS PAPSS1 CCDS3676.1 r.? - - Ins intronic I 108540729 108540739 1 20 372.682 - - 9 1 1 PAPSS1|CCDS3676.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PAPSS1|CCDS3676.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 4 3 6 37 21 38 22 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750576367 4 112398932 GT G 420 PASS - - - - - Del - D 112398932 112398941 1 14 375.692 - - 8 1 1 - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 6 1 9 1 24 7 24 7 9 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750576967 4 113885626 CCTCCAGTTC CTGAATCT 290 PASS ANK2 ENST00000506722 r.? - - Complex intronic DI 113885627 113885635 9 35 0 - - 0 1 1 ANK2|ENST00000506722|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ANK2|ENST00000506722|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 6 0 0 30 29 30 29 4 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750580735 4 124287965 C CA 540 PASS - - - - - Ins - I 124287965 124287973 1 18 479.162 - - 7 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 8 1 9 1 41 38 42 39 9 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750581329 4 126109031 AAAGT A 358 PASS - - - - - Del - D 126109031 126109040 4 20 376.896 - - 2 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 4 3 4 24 30 24 30 3 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750582855 4 130355533 CT C 283 PASS - - - - - Del - D 130355533 130355543 1 12 266.803 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 3 2 29 36 29 36 3 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750583218 4 131592055 G GT 420 PASS - - - - - Ins - I 131592055 131592062 1 18 372.682 - - 6 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 5 2 7 2 35 30 35 30 7 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750586129 4 139946581 TTC T 360 PASS CCRN4L CCDS3743.1 r.? - - Del intronic D 139946581 139946585 2 16 323.054 - - 1 1 1 CCRN4L|CCDS3743.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCRN4L|CCDS3743.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 3 7 4 32 40 32 40 7 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750586442 4 140587307 A AGAGG 478 PASS MGST2 CCDS3749.1 r.? - - Ins intronic I 140587307 140587323 4 30 461.702 - - 3 1 1 MGST2|CCDS3749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MGST2|CCDS3749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 11 13 0 0 ./. 4 5 4 6 32 26 32 26 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750588197 4 145756370 C CA 840 PASS - - - - - Ins - I 145756370 145756372 1 60 745.363 - - 1 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 9 5 9 5 33 18 33 18 9 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750590349 4 152303235 TCTGACTTGCATTTCC T 290 PASS - - - - - Del - D 152303235 152303255 15 27 537.821 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 8 2 8 19 28 19 28 2 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750594252 4 163200910 TG T 420 PASS - - - - - Del - D 163200910 163200913 1 20 376.896 - - 2 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 4 5 5 30 41 30 41 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750596260 4 168298768 C CA 600 PASS - - - - - Ins - I 168298768 168298777 1 35 521.565 - - 8 1 1 - - ./. 0 0 0 0 22 21 22 21 0 0 ./. 4 6 5 7 31 34 32 34 5 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750596339 4 168499922 G GA 540 PASS - - - - - Ins - I 168499922 168499931 1 30 478.56 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 5 4 5 32 27 32 27 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750597556 4 171541560 G GT 480 PASS - - - - - Ins - I 171541560 171541567 1 21 425.922 - - 6 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 2 9 3 33 35 33 35 9 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750598475 4 174205188 TG T 300 PASS GALNT7 CCDS3815.1 r.? - - Del intronic D 174205188 174205190 1 10 269.211 - - 1 1 1 GALNT7|CCDS3815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT7|CCDS3815.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 1 4 3 35 37 35 37 4 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750599756 4 177813680 AT A 600 PASS - - - - - Del - D 177813680 177813686 1 35 536.617 - - 5 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 6 6 8 29 32 29 32 6 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750600931 4 180932383 C CA 600 PASS - - - - - Ins - I 180932383 180932391 1 32 531.8 - - 7 1 - - - ./. 0 0 0 0 12 15 13 15 0 0 ./. 3 7 7 11 27 30 28 30 7 11 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750607843 5 4106517 G GA 540 PASS - - - - - Ins - I 4106517 4106526 1 30 479.818 - - 8 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 4 5 7 6 29 28 29 28 7 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750607961 5 4435771 AT A 360 PASS - - - - - Del - D 4435771 4435781 1 12 323.491 - - 9 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 1 5 4 8 32 27 32 27 4 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750615744 5 25142789 AT A 300 PASS AC106810.1 ENST00000515097 r.? - - Del intronic D 25142789 25142799 1 12 267.168 - - 9 1 1 AC106810.1|ENST00000515097|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC106810.1|ENST00000515097|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 2 6 2 26 10 26 10 6 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750616119 5 26065053 C CT 300 PASS - - - - - Ins - I 26065053 26065063 1 12 264.759 - - 9 1 1 - - ./. 0 0 0 0 7 13 7 14 0 0 ./. 2 3 5 5 37 31 37 31 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750618398 5 31971243 C CA 660 PASS PDZD2 CCDS34137.1 r.? - - Ins intronic I 31971243 31971249 1 36 585.24 - - 5 1 1 PDZD2|CCDS34137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDZD2|CCDS34137.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 6 9 0 0 ./. 3 8 4 10 23 48 23 48 4 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750621067 5 39029796 CCTTGGCTAAATCA C 377 PASS RICTOR CCDS34148.1 r.? - - Del intronic D 39029796 39029813 13 56 700.897 - - 1 1 1 RICTOR|CCDS34148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RICTOR|CCDS34148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 6 7 6 6 35 27 35 28 6 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750623882 5 51410492 TA T 720 PASS - - - - - Del - D 51410492 51410498 1 45 646.982 - - 5 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 8 4 11 5 37 23 37 23 11 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750623964 5 51753447 G GA 420 PASS - - - - - Ins - I 51753447 51753457 1 20 370.783 - - 9 1 1 - - ./. 0 0 0 0 9 17 9 18 0 0 ./. 4 3 5 5 33 33 34 34 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750625813 5 56206150 C CAGT 449 PASS C5orf35 CCDS3972.1 r.? - - Ins intronic I 56206150 56206156 3 25 416.27 - - 1 1 1 C5orf35|CCDS3972.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C5orf35|ENST00000423328|r.219_220insagu|c.?|p.?|protein_coding:five_prime_UTR:exon:insertion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000667:SO:0001623:SO:0001576 ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 4 6 4 34 35 34 36 6 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750627739 5 62284468 G GA 540 PASS - - - - - Ins - I 62284468 62284477 1 30 479.216 - - 8 1 1 - - ./. 0 0 0 0 11 19 11 19 0 0 ./. 4 5 7 6 34 37 35 39 7 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750630083 5 68780176 AAGTT A 269 PASS - - - - - Del - D 68780176 68780183 4 12 269.576 - - 1 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 3 5 6 24 37 24 37 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750635374 5 84445327 GGT G 300 PASS - - - - - Del - D 84445327 84445342 2 12 262.953 - - 7 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 2 3 2 3 28 32 28 32 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750636633 5 88030402 T TG 329 PASS MEF2C CCDS47244.1 r.? - - Ins intronic I 88030402 88030403 1 12 311.45 - - 0 1 - MEF2C|CCDS47244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MEF2C|CCDS47244.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 1 13 1 13 0 0 ./. 1 5 1 1 13 26 13 26 2 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750642164 5 105731339 TTC T 300 PASS - - - - - Del - D 105731339 105731355 2 12 268.974 - - 7 1 - - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 2 3 37 38 37 38 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750643281 5 108673912 G GA 329 PASS PJA2 CCDS4099.1 r.? - - Ins intronic I 108673912 108673920 1 7 318.674 - - 7 1 1 PJA2|CCDS4099.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PJA2|CCDS4099.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 0 6 3 6 29 42 29 42 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750643628 5 109793278 C CA 420 PASS TMEM232 CCDS33841.1 r.? - - Ins intronic I 109793278 109793287 1 18 372.59 - - 8 1 1 TMEM232|CCDS33841.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM232|CCDS33841.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 5 4 7 24 45 24 45 4 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750645237 5 114839573 AG A 600 PASS - - - - - Del - D 114839573 114839575 1 36 539.152 - - 1 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 5 5 7 6 32 28 32 28 7 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750645953 5 116503681 GTC G 300 PASS - - - - - Del - D 116503681 116503695 2 12 268.974 - - 6 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 2 3 31 32 31 32 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750648844 5 124832928 T TA 269 PASS - - - - - Ins - I 124832928 124832938 1 10 262.953 - - 9 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 4 1 4 1 41 47 41 47 4 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750657741 5 151505311 TG T 360 PASS - - - - - Del - D 151505311 151505313 1 12 322.889 - - 1 1 1 - - ./. 0 0 0 0 18 11 18 11 0 0 ./. 5 1 7 1 31 24 31 24 7 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750659807 5 157366185 T TC 300 PASS - - - - - Ins - I 157366185 157366186 1 12 265.361 - - 0 1 - - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 4 2 30 35 32 35 4 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750662964 5 166485772 GA G 300 PASS - - - - - Del - D 166485772 166485781 1 10 269.576 - - 8 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 4 3 7 32 35 32 35 3 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750668035 5 179437414 CAGTGG CA 409 PASS RNF130 CCDS4451.1 r.? - - Complex intronic DI 179437415 179437419 5 14 0 - - 0 1 1 RNF130|CCDS4451.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 RNF130|CCDS4451.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 15 3 15 3 0 0 ./. 6 1 0 0 41 17 41 17 6 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750668627 6 288564 TCGTATAC T 435 PASS DUSP22 CCDS4468.1 r.? - - Del upstream D 288564 288573 7 72 807.366 - - 1 1 1 DUSP22|CCDS4468.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 DUSP22|CCDS4468.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 11 13 11 0 0 ./. 7 8 7 9 49 38 50 38 8 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750670310 6 4508732 C CACT 658 PASS - - - - - Ins - I 4508732 4508737 3 48 622.774 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 7 7 7 38 30 39 30 7 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750670907 6 6034691 G GA 300 PASS - - - - - Ins - I 6034691 6034701 1 12 265.309 - - 9 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 3 3 5 29 27 29 27 3 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750673948 6 13145899 C CA 660 PASS PHACTR1 ENST00000379350 r.? - - Ins intronic I 13145899 13145901 1 42 586.329 - - 1 1 1 PHACTR1|ENST00000379350|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PHACTR1|ENST00000379350|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 6 5 7 33 32 33 32 5 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750675242 6 16110941 AT A 360 PASS - - - - - Del - D 16110941 16110948 1 15 323.428 - - 6 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 4 3 5 29 28 29 28 3 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750679486 6 26118129 AAAACAATTAGTGATTCTCTAG A 261 PASS HIST1H2BC CCDS4584.1 r.? - - Del intronic D 26118129 26118177 21 30 485.142 - - 2 1 1 HIST1H2BC|CCDS4584.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 HIST1H2BC|CCDS4584.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 5 2 4 18 23 20 24 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750680477 6 28645110 CT C 540 PASS - - - - - Del - D 28645110 28645119 1 18 485.142 - - 8 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 8 1 9 3 29 20 29 20 9 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750683183 6 32761957 C CA 720 PASS - - - - - Ins - I 32761957 32761964 1 40 635.417 - - 6 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 9 5 10 28 42 29 42 5 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750684378 6 35586753 G GT 449 PASS FKBP5 CCDS4808.1 r.? - - Ins intronic I 35586753 35586755 1 24 413.778 - - 1 1 1 FKBP5|CCDS4808.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FKBP5|CCDS4808.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 3 5 5 5 27 35 27 37 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750685957 6 39305063 T TCTTC 389 PASS KIF6 CCDS4844.1 r.? - - Ins intronic I 39305063 39305084 4 8 360.475 - - 5 1 1 KIF6|CCDS4844.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIF6|CCDS4844.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 14 7 0 0 ./. 7 0 11 3 34 19 35 19 11 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750687268 6 43111251 A AGG 420 PASS PTK7 CCDS4884.1 r.2365_2366insgg c.2144_2145insGG p.Y715fs*1 Ins frameshift I 43111251 43111252 2 20 368.904 - - 0 1 1 PTK7|CCDS4884.1|r.2365_2366insgg|c.2144_2145insGG|p.Y715fs*1|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 PTK7|CCDS4884.1|r.2365_2366insgg|c.2144_2145insGG|p.Y715fs*1|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 3 16 3 16 0 0 ./. 4 3 6 3 29 29 29 30 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750688262 6 46004048 T TG 269 PASS CLIC5 CCDS47438.1 r.? - - Ins intronic I 46004048 46004049 1 10 257.482 - - 0 1 - CLIC5|CCDS47438.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLIC5|CCDS47438.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 1 8 2 39 25 40 26 8 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750689672 6 50210314 A AT 660 PASS - - - - - Ins - I 50210314 50210321 1 36 579.104 - - 6 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 8 3 11 3 37 32 38 32 11 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750689872 6 50831430 T TAC 660 PASS - - - - - Ins - I 50831430 50831431 2 42 578.502 - - 0 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 5 6 8 6 36 28 36 28 8 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750691121 6 54232004 CG C 420 PASS TINAG CCDS4955.1 r.? - - Del intronic D 54232004 54232006 1 20 377.333 - - 1 1 1 TINAG|CCDS4955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TINAG|CCDS4955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 3 7 4 42 27 42 27 7 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750693971 6 62649913 CATG C 420 PASS KHDRBS2 CCDS4963.1 r.? - - Del intronic D 62649913 62649922 3 14 377.333 - - 2 1 1 KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 6 1 7 1 24 30 24 30 7 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750700903 6 81937939 AT A 300 PASS - - - - - Del - D 81937939 81937944 1 12 269.523 - - 4 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 3 2 4 4 23 34 23 34 4 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750703145 6 88911414 C CA 480 PASS - - - - - Ins - I 88911414 88911423 1 24 424.615 - - 8 1 - - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 3 5 3 10 28 42 28 42 3 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750704008 6 91281832 G GA 300 PASS MAP3K7 CCDS5028.1 r.? - - Ins intronic I 91281832 91281842 1 12 266.513 - - 9 1 1 MAP3K7|CCDS5028.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAP3K7|CCDS5028.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 2 3 2 3 26 27 26 27 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750705529 6 96285445 AGCCGCT A 319 PASS - - - - - Del - D 96285445 96285452 6 42 592.951 - - 1 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 6 4 6 31 36 32 36 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750706554 6 99535179 C CT 600 PASS - - - - - Ins - I 99535179 99535180 1 32 533.026 - - 0 1 1 - - ./. 0 0 0 0 12 9 12 10 0 0 ./. 3 7 4 7 34 30 34 31 4 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750706957 6 100512008 T TA 480 PASS - - - - - Ins - I 100512008 100512015 1 21 425.819 - - 6 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 2 7 3 35 51 35 51 7 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750710538 6 110503563 ATTGTACAT A 348 PASS CDC40 CCDS5081.1 r.? - - Del intronic D 110503563 110503576 8 40 646.254 - - 1 1 1 CDC40|CCDS5081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC40|CCDS5081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 9 3 11 3 36 36 36 36 11 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750710604 6 110792062 G GC 360 PASS SLC22A16 CCDS5084.1 r.? - - Ins intronic I 110792062 110792067 1 16 319.816 - - 4 1 1 SLC22A16|CCDS5084.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC22A16|CCDS5084.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 3 4 3 24 24 24 25 4 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750713005 6 118002001 A AT 300 PASS NUS1 CCDS5118.1 r.? - - Ins intronic I 118002001 118002010 1 10 266.513 - - 8 1 1 NUS1|CCDS5118.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUS1|CCDS5118.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 12 0 0 ./. 1 4 1 4 30 30 30 30 1 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750715319 6 124271170 AT A 420 PASS NKAIN2 CCDS34526.1 r.? - - Del intronic D 124271170 124271178 1 20 377.333 - - 7 1 1 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 4 3 8 3 33 31 33 31 8 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750715826 6 125905991 AGAAAAGCAACTCTCT A 319 PASS - - - - - Del - D 125905991 125906010 15 22 592.951 - - 1 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 1 10 2 10 25 47 26 47 3 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750719129 6 136784055 GTGA G 387 PASS MAP7 CCDS5178.1 r.? - - Del intronic D 136784055 136784059 3 9 428.829 - - 1 1 1 MAP7|CCDS5178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP7|CCDS5178.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 0 8 0 10 13 31 13 31 0 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750726877 6 158720689 T TC 300 PASS - - - - - Ins - I 158720689 158720691 1 12 265.309 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 2 3 4 5 25 26 26 26 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750727146 6 159226510 AT A 480 PASS EZR CCDS5258.1 r.? - - Del intronic D 159226510 159226512 1 25 431.237 - - 1 1 1 EZR|CCDS5258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EZR|CCDS5258.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 4 6 4 31 19 31 19 6 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750729318 6 164992481 GCC G 360 PASS ENSG00000237744 ENST00000425920 r.? - - Del intronic D 164992481 164992484 2 12 323.428 - - 2 1 1 ENSG00000237744|ENST00000425920|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237744|ENST00000425920|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 2 11 2 0 0 ./. 5 1 8 1 28 2 28 2 8 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750734068 7 6159342 G GT 300 PASS USP42 CCDS47535.1 r.? - - Ins intronic I 6159342 6159352 1 12 266.668 - - 9 1 1 USP42|CCDS47535.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USP42|CCDS47535.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 3 2 3 18 34 18 34 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750734589 7 7384638 TAC T 300 PASS - - - - - Del - D 7384638 7384655 2 12 269.679 - - 8 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 2 2 30 18 30 18 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750735664 7 10109074 GA G 480 PASS - - - - - Del - D 10109074 10109083 1 24 431.486 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 3 6 5 37 45 37 45 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750736163 7 11366090 AT A 300 PASS - - - - - Del - D 11366090 11366095 1 10 269.679 - - 4 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 1 5 3 36 24 36 24 5 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750736378 7 12105073 G GT 480 PASS - - - - - Ins - I 12105073 12105077 1 25 426.669 - - 3 1 1 - - ./. 0 0 0 0 20 18 21 18 0 0 ./. 4 4 4 4 27 35 27 36 4 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750736547 7 12528554 G GGT 294 PASS - - - - - Ins - I 12528554 12528555 2 21 390.546 - - 0 1 1 - - ./. 0 0 0 0 13 4 14 4 0 0 ./. 2 6 0 0 26 25 26 26 2 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750737966 7 16504637 CT C 300 PASS SOSTDC1 CCDS5360.1 r.? - - Del intronic D 16504637 16504644 1 10 269.679 - - 6 1 1 SOSTDC1|CCDS5360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SOSTDC1|CCDS5360.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 2 7 20 38 20 38 2 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750738311 7 17447753 GT G 269 PASS - - - - - Del - D 17447753 17447755 1 12 268.474 - - 1 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 3 5 7 32 32 32 32 5 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750738511 7 17962916 C CTTG 447 PASS SNX13 CCDS47551.1 r.? - - Ins intronic I 17962916 17962921 3 30 469.166 - - 1 1 1 SNX13|CCDS47551.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNX13|CCDS47551.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 10 20 10 0 0 ./. 4 5 5 6 40 38 40 39 5 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750742042 7 27608540 A AAT 300 PASS HIBADH CCDS5414.1 r.? - - Ins intronic I 27608540 27608541 2 6 253.423 - - 0 1 1 HIBADH|CCDS5414.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HIBADH|CCDS5414.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 0 5 0 1 28 29 28 29 0 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750743679 7 32213648 C CT 360 PASS PDE1C ENST00000396193 r.? - - Ins intronic I 32213648 32213656 1 15 320.002 - - 7 1 1 PDE1C|ENST00000396193|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE1C|ENST00000396193|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 10 14 0 0 ./. 2 4 3 7 35 41 36 41 3 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750749086 7 46695536 G GC 300 PASS - - - - - Ins - I 46695536 46695539 1 12 266.668 - - 2 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 3 2 6 23 34 23 35 2 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750754905 7 63458856 ATGCTGTGCAAAGGATCCACAGCAAGGAAGG A 261 PASS - - - - - Del - D 63458856 63458888 30 30 484.819 - - 1 1 1 - - ./. 0 0 0 0 2 17 2 17 0 0 ./. 4 5 2 3 26 40 28 42 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750758295 7 70060532 G GT 389 PASS AUTS2 CCDS5539.1 r.? - - Ins intronic I 70060532 70060534 1 20 370.927 - - 1 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 4 4 5 28 31 31 33 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750760817 7 75961669 TGTGTCCACAAATAACGGAAGATTGGGCTTTTCCCAGCTCCATCATTCGCTAAGCAATCTTGGGGACAAGCCGCTTCATTTCTCTGGGCTTTGGTTTTCTTATCTGCAAAATGGGGATTTCTGCTTCTTTCATAAGGTAATATACAGGTATATCAGACAAATAAGAAAGTCTTTTTTTGTTCTTTTTGAGACATGGTCTTACTCTGTTTCCCAAGCTGAAGTGCAGAGGCATGATCACACCTCACTGCAGCCTCAAACTACTGGGCTCAAGCAATCCTCCCACCTCAATCTCCAGAGTACCTGGGACTACAGGTGTGCACCACCATGCATGGCTGATTTCTTTTTTTTTTTTTTTTGGAGACAGAGTTTCAAAAAGACCTGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATGTCGGCTCACTGCAACCTCCCCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGCGTTTTGCCATGTTGGCCAGGATGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGTCTATGGCTGATTTATTTATTTCTTTATTTAGAGATGGGGTCTCACTATATCAATCCGCTGGAAGTGCAGTGGCACTATCTTGGCTCACTGCAACCTCAGCCTCCCAGGGCTTCAAGCAATCCTACCTTAGCCTCCTGAGTGGCTGGGACTAAGGCACATGCCACCACACCCAGCTAATTTTTGTATTTTTCTGTAGAGACAAGGTCTTGCCATGTTGCCCAGGCTGGCCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGTTAGGATTACAGGTGTGAGCCACTGCATCCAGCCATTTAAAAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACCCTTAGTTCAAGTGATCCTCCCACCTTGGCCGCTCAGAGTGCTGGGATTACAGGTGACAGCCATTGTGCCCAGCAAAGTCTTCTTGAAAAA T 261 PASS YWHAG CCDS5584.1 r.? - - Del intronic D 75961669 75962738 1066 18 484.217 - - 1 1 1 YWHAG|CCDS5584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 YWHAG|CCDS5584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 1 8 0 0 17 14 18 22 1 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750763157 7 82111247 A AC 300 PASS - - - - - Ins - I 82111247 82111249 1 6 265.464 - - 1 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 0 5 0 24 28 24 29 5 0 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750763657 7 83556152 G GA 660 PASS - - - - - Ins - I 83556152 83556157 1 36 585.466 - - 4 1 1 - - ./. 0 0 0 0 23 17 23 19 0 0 ./. 3 8 6 12 30 36 30 36 6 12 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750766468 7 92040598 CCA C 540 PASS - - - - - Del - D 92040598 92040601 2 28 485.422 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 6 6 6 28 36 28 36 6 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750771206 7 104957146 A AC 420 PASS SRPK2 CCDS34724.1 r.? - - Ins intronic I 104957146 104957148 1 18 373.336 - - 1 1 1 SRPK2|CCDS34724.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SRPK2|CCDS34724.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 6 8 6 0 0 ./. 5 2 6 3 31 26 31 26 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750772701 7 109040795 TC T 600 PASS - - - - - Del - D 109040795 109040798 1 36 539.357 - - 2 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 5 5 5 5 29 31 29 31 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750774819 7 116426017 TG T 660 PASS MET CCDS43636.1 r.? - - Del intronic D 116426017 116426019 1 40 593.293 - - 1 1 1 MET|CCDS43636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MET|CCDS43636.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 7 6 7 30 31 30 31 6 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750775752 7 119358668 A AT 420 PASS - - - - - Ins - I 119358668 119358677 1 20 373.336 - - 8 1 1 - - ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 4 4 6 20 33 20 33 4 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750775852 7 119645821 A AT 420 PASS - - - - - Ins - I 119645821 119645830 1 20 373.336 - - 8 1 1 - - ./. 0 0 0 0 20 11 20 11 0 0 ./. 3 4 3 7 34 33 35 34 3 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750777788 7 125568492 AT A 480 PASS - - - - - Del - D 125568492 125568502 1 25 431.486 - - 9 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 4 4 5 26 33 26 33 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750779786 7 130562617 CAG C 329 PASS MIR29B1 ENST00000385015 r.? - - Del upstream D 130562617 130562622 2 12 323.012 - - 2 1 1 MIR29B1|ENST00000385015|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 MIR29B1|ENST00000385015|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 1 6 2 36 22 36 22 6 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750785075 7 145181658 G GT 660 PASS - - - - - Ins - I 145181658 145181668 1 36 586.67 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 8 3 9 6 35 25 35 25 9 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750785349 7 146328016 G GA 540 PASS CNTNAP2 CCDS5889.1 r.? - - Ins intronic I 146328016 146328025 1 30 480.003 - - 8 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 16 16 0 0 ./. 5 4 6 6 34 50 34 50 6 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750789474 7 155806534 A AT 480 PASS - - - - - Ins - I 155806534 155806543 1 24 426.669 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 5 4 5 24 39 24 39 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750797246 8 17604253 GTATAGAATACTA G 377 PASS MTUS1 CCDS43717.1 r.? - - Del intronic D 17604253 17604267 12 56 701.068 - - 1 1 1 MTUS1|CCDS43717.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTUS1|CCDS43717.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 7 6 7 6 20 27 21 27 8 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750798786 8 22488047 TG T 420 PASS BIN3 CCDS47825.1 r.301delC c.204delC p.N69fs*11 Del frameshift D 22488047 22488050 1 18 375.692 - - 2 1 1 BIN3|CCDS47825.1|r.301delC|c.204delC|p.N69fs*11|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 BIN3|CCDS47825.1|r.301delC|c.204delC|p.N69fs*11|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 2 8 3 25 20 25 20 8 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750801596 8 30129493 ATTTTTTTTTTTTTT A 319 PASS - - - - - Del - D 30129493 30129525 14 40 578.16 - - 2 1 - - - ./. 0 0 0 0 3 11 3 11 0 0 ./. 4 7 4 8 13 19 14 19 5 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750805490 8 42174525 TTAA T 1018 PASS IKBKB CCDS6128.1 r.? - - Del intronic D 42174525 42174530 3 100 964.689 - - 1 1 1 IKBKB|CCDS6128.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IKBKB|CCDS6128.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 9 9 10 11 39 40 39 40 10 11 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750807844 8 52326964 A AC 300 PASS PXDNL CCDS47855.1 r.? - - Ins intronic I 52326964 52326965 1 10 266.631 - - 0 1 1 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PXDNL|CCDS47855.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 1 5 2 35 15 35 15 5 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750811454 8 62087930 TC T 776 PASS - - - - - Del - D 62087930 62087932 1 60 805.312 - - 1 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 4 11 9 14 37 41 37 41 9 14 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750814125 8 70987159 C CT 420 PASS PRDM14 CCDS6206.1 r.? - - Ins upstream I 70987159 70987164 1 20 373.284 - - 4 1 1 PRDM14|CCDS6206.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 PRDM14|CCDS6206.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 9 6 9 6 0 0 ./. 3 4 5 4 27 27 28 28 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750815607 8 75211792 TC T 360 PASS JPH1 CCDS6217.1 r.? - - Del intronic D 75211792 75211794 1 15 323.57 - - 1 1 1 JPH1|CCDS6217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 JPH1|CCDS6217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 20 8 20 0 0 ./. 2 4 3 4 35 41 35 41 3 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750817708 8 81666368 G GT 300 PASS ZNF704 CCDS34913.1 r.? - - Ins intronic I 81666368 81666378 1 12 263.621 - - 9 1 1 ZNF704|CCDS34913.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF704|CCDS34913.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 22 11 22 0 0 ./. 3 2 3 2 29 37 29 37 3 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750817873 8 82372176 AT A 840 PASS FABP9 CCDS34914.1 r.? - - Del intronic D 82372176 82372178 1 48 754.394 - - 1 1 1 FABP9|CCDS34914.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FABP9|CCDS34914.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 3 11 8 14 48 48 48 48 8 14 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750818570 8 84220194 A AT 269 PASS - - - - - Ins - I 84220194 84220203 1 12 266.631 - - 8 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 2 3 3 4 46 55 46 55 3 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750819708 8 87368272 AATGG A 329 PASS - - - - - Del - D 87368272 87368279 4 15 321.162 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 4 2 4 18 65 18 65 2 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750821054 8 90708207 TTC T 360 PASS - - - - - Del - D 90708207 90708224 2 16 321.162 - - 8 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 3 3 3 3 50 52 50 52 3 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750825122 8 100670667 CT C 840 PASS VPS13B CCDS6280.1 r.? - - Del intronic D 100670667 100670675 1 63 754.394 - - 7 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 8 7 9 27 39 27 39 7 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750825763 8 102171993 AT A 600 PASS - - - - - Del - D 102171993 102171998 1 35 534.466 - - 4 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 4 6 4 9 26 46 26 46 4 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750826621 8 104310294 CTGTTTCATAGGAGGG CCT 435 PASS FZD6 CCDS6298.1 r.? - - Complex upstream DI 104310295 104310309 15 70 0 - - 0 1 1 FZD6|CCDS6298.1|r.?|-|-|protein_coding:indel:2KB_upstream_variant|SO:0000010:SO:1000032:SO:0001636 FZD6|CCDS6298.1|r.?|-|-|protein_coding:indel:2KB_upstream_variant|SO:0000010:SO:1000032:SO:0001636 ./. 0 0 0 0 9 14 9 14 0 0 ./. 9 6 0 0 36 27 36 28 9 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750828720 8 110513748 AC A 360 PASS PKHD1L1 CCDS47911.1 r.? - - Del intronic D 110513748 110513750 1 16 323.57 - - 1 1 1 PKHD1L1|CCDS47911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKHD1L1|CCDS47911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 3 5 3 25 26 25 26 5 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750829134 8 111691983 AG A 420 PASS - - - - - Del - D 111691983 111691985 1 20 376.896 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 4 3 6 42 54 42 54 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750829869 8 113404893 T TG 420 PASS CSMD3 CCDS6315.1 r.? - - Ins intronic I 113404893 113404894 1 18 373.284 - - 0 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 2 7 5 71 59 71 60 7 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750830227 8 114050020 C CA 360 PASS CSMD3 CCDS6315.1 r.? - - Ins intronic I 114050020 114050030 1 7 310.324 - - 9 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 20 15 21 0 0 ./. 0 6 0 7 75 87 75 87 0 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750830713 8 114999606 GA G 478 PASS - - - - - Del - D 114999606 114999615 1 24 481.742 - - 8 1 1 - - ./. 0 0 0 0 13 20 13 20 0 0 ./. 2 7 4 8 87 107 87 107 4 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750830817 8 115240931 AT A 600 PASS - - - - - Del - D 115240931 115240941 1 32 539.283 - - 9 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 7 3 9 6 97 78 97 78 9 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750830819 8 115241182 C CT 720 PASS - - - - - Ins - I 115241182 115241189 1 13 638.711 - - 6 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 0 12 9 14 100 89 100 90 9 14 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750831094 8 115995337 AG A 389 PASS - - - - - Del - D 115995337 115995340 1 14 377.498 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 6 1 9 2 88 86 88 86 9 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750831232 8 116311426 A AT 480 PASS - - - - - Ins - I 116311426 116311427 1 24 424.804 - - 0 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 5 7 6 98 80 99 80 7 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750831914 8 117415814 A AG 300 PASS - - - - - Ins - I 117415814 117415815 1 12 263.621 - - 0 1 - - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 3 2 5 6 80 64 84 67 5 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750832693 8 118866686 AAC A 300 PASS EXT1 CCDS6324.1 r.? - - Del intronic D 118866686 118866702 2 12 269.641 - - 7 1 - EXT1|CCDS6324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXT1|CCDS6324.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 2 4 5 81 69 81 69 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750832705 8 118875652 T TG 480 PASS EXT1 CCDS6324.1 r.? - - Ins intronic I 118875652 118875653 1 16 417.579 - - 0 1 1 EXT1|CCDS6324.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EXT1|CCDS6324.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 7 6 8 0 0 ./. 1 7 4 9 90 95 90 96 4 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750833476 8 120272527 C CT 420 PASS - - - - - Ins - I 120272527 120272535 1 20 372.682 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 3 5 4 91 110 91 111 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750835663 8 124109269 T TA 4020 PASS WDR67 CCDS6338.1 r.? - - Ins intronic I 124109269 124109278 1 1190 3557.21 - - 8 1 1 WDR67|CCDS6338.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WDR67|CCDS6338.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 34 33 41 38 75 73 75 73 41 38 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750836304 8 125014890 G GT 449 PASS FER1L6 CCDS43767.1 r.? - - Ins intronic I 125014890 125014895 1 24 417.579 - - 4 1 1 FER1L6|CCDS43767.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FER1L6|CCDS43767.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 5 3 8 62 94 62 94 3 8 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750837487 8 126821916 TCTGTACTTCACCTCCGATTC T 319 PASS - - - - - Del - D 126821916 126821943 20 42 593.211 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 6 5 6 5 77 97 77 97 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750837875 8 127575321 CTTACCTGCACCTCTTATT CTAGACT 261 PASS FAM84B CCDS6358.1 r.? - - Complex upstream DI 127575322 127575339 18 28 0 - - 0 1 1 FAM84B|CCDS6358.1|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 FAM84B|CCDS6358.1|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 6 0 0 45 104 45 105 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750838317 8 128416091 GCTTTACTTTTCT G 3480 PASS AC018714.1 ENST00000502082 r.? - - Del intronic D 128416091 128416104 12 3717 6461.16 - - 1 1 1 AC018714.1|ENST00000502082|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC018714.1|ENST00000502082|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 62 58 62 60 99 92 102 93 65 61 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750838438 8 128625438 C CT 300 PASS - - - - - Ins - I 128625438 128625446 1 10 266.631 - - 7 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 1 4 1 9 79 96 81 96 1 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750839202 8 130070661 CGT C 420 PASS - - - - - Del - D 130070661 130070678 2 18 376.294 - - 8 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 2 5 6 5 55 75 55 75 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750841223 8 134825855 TC T 480 PASS - - - - - Del - D 134825855 134825858 1 24 431.426 - - 2 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 5 3 6 4 53 51 53 51 6 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750842045 8 136964130 TA T 420 PASS - - - - - Del - D 136964130 136964132 1 14 371.477 - - 1 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 1 6 4 7 51 71 51 71 4 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750842370 8 137655437 A AT 360 PASS - - - - - Ins - I 137655437 137655446 1 15 319.957 - - 8 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 4 3 6 55 69 55 70 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750849984 9 13971773 GC G 540 PASS - - - - - Del - D 13971773 13971775 1 28 486.679 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 3 6 4 31 22 31 22 6 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750850296 9 15055294 T TG 600 PASS - - - - - Ins - I 15055294 15055299 1 32 534.734 - - 4 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 7 3 11 6 30 26 30 26 11 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750855790 9 32773025 A AT 329 PASS - - - - - Ins - I 32773025 32773033 1 12 312.412 - - 7 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 1 5 3 5 29 30 29 30 3 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750861343 9 68434882 G GA 403 PASS - - - - - Ins - I 68434882 68434883 1 18 905.435 - - 0 1 1 - - ./. 0 0 0 0 18 36 18 37 0 0 ./. 0 17 0 17 37 154 38 154 0 17 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750862822 9 71574990 G GA 360 PASS PIP5K1B CCDS6624.1 r.? - - Ins intronic I 71574990 71574995 1 15 320.238 - - 4 1 1 PIP5K1B|CCDS6624.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PIP5K1B|CCDS6624.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 4 6 5 36 24 36 24 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750864654 9 76089911 AAGGTCTCCAGCACTTGCGGGTGGAGACAG A 290 PASS - - - - - Del - D 76089911 76089945 29 32 538.346 - - 1 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 7 3 4 28 38 28 41 3 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750864951 9 76894726 C CA 540 PASS - - - - - Ins - I 76894726 76894734 1 28 480.057 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 3 8 3 33 32 35 33 8 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750865854 9 79245833 TCTCTAGTCTACTGGGATCTTGCTGAG T 479 PASS PRUNE2 CCDS47982.1 r.? - - Del intronic D 79245833 79245862 26 84 919.283 - - 1 1 1 PRUNE2|CCDS47982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRUNE2|CCDS47982.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 6 11 4 9 31 40 33 42 6 11 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750866487 9 81148222 GT G 720 PASS - - - - - Del - D 81148222 81148227 1 40 648.906 - - 4 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 3 9 4 9 27 43 27 43 4 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750867669 9 84363214 GAA G 300 PASS - - - - - Del - D 84363214 84363219 2 12 269.173 - - 4 1 1 - - ./. 0 0 0 0 3 11 3 11 0 0 ./. 2 3 2 3 29 23 29 23 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750869228 9 89227535 C CT 720 PASS - - - - - Ins - I 89227535 89227545 1 40 640.477 - - 9 1 1 - - ./. 0 0 0 0 12 19 12 19 0 0 ./. 3 9 3 11 36 47 36 48 3 11 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750870545 9 93295605 CG C 360 PASS - - - - - Del - D 93295605 93295607 1 15 324.453 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 2 6 6 39 31 39 31 6 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750870651 9 93566872 AAAC A 600 PASS SYK CCDS6688.1 r.? - - Del intronic D 93566872 93566889 3 32 540.755 - - 5 1 1 SYK|CCDS6688.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SYK|CCDS6688.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 14 20 14 0 0 ./. 3 7 4 9 35 36 35 36 4 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750871082 9 94693901 T TA 360 PASS ROR2 CCDS6691.1 r.? - - Ins intronic I 94693901 94693911 1 16 315.422 - - 9 1 1 ROR2|CCDS6691.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROR2|CCDS6691.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 21 9 21 0 0 ./. 3 3 4 4 30 33 30 33 4 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750875159 9 106246164 GA G 540 PASS - - - - - Del - D 106246164 106246166 1 28 486.679 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 6 3 6 4 38 39 38 39 6 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750876149 9 108842299 A AC 360 PASS - - - - - Ins - I 108842299 108842304 1 15 319.636 - - 4 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 2 4 2 6 23 30 23 30 2 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750876348 9 109591636 A AC 420 PASS - - - - - Ins - I 109591636 109591637 1 18 373.11 - - 0 1 1 - - ./. 0 0 0 0 13 12 14 12 0 0 ./. 2 5 6 7 26 25 26 25 6 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750878812 9 115395203 TA T 300 PASS KIAA1958 CCDS35108.1 r.? - - Del intronic D 115395203 115395211 1 6 270.377 - - 7 1 1 KIAA1958|CCDS35108.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1958|CCDS35108.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 0 1 0 26 21 26 21 5 0 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750879724 9 117962845 C CT 540 PASS DEC1 CCDS6812.1 r.? - - Ins intronic I 117962845 117962852 1 24 481.261 - - 6 1 1 DEC1|CCDS6812.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 DEC1|CCDS6812.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 2 13 4 37 25 37 26 13 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750881456 9 123334360 GAAC G 629 PASS CDK5RAP2 CCDS6823.1 r.? - - Del intronic D 123334360 123334368 3 40 590.616 - - 2 1 1 CDK5RAP2|CCDS6823.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDK5RAP2|CCDS6823.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 7 4 10 4 40 28 40 28 10 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750881980 9 124740120 AT A 420 PASS TTLL11 CCDS48012.1 r.? - - Del intronic D 124740120 124740126 1 20 378.528 - - 5 1 1 TTLL11|CCDS48012.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTLL11|CCDS48012.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 4 3 5 4 25 23 25 23 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750884540 9 131088651 C CAGGG 480 PASS TRUB2 CCDS6897.1 r.? - - Ins upstream I 131088651 131088659 4 16 410.328 - - 1 1 1 TRUB2|CCDS6897.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 COQ4|ENST00000372875|r.900_901insaggg|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 7 4 7 4 0 0 ./. 1 7 2 10 33 32 33 32 2 10 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750885039 9 131961014 TAATGA T 865 PASS - - - - - Del - D 131961014 131961020 5 90 913.864 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 9 8 10 9 28 33 28 33 10 9 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750885851 9 133522396 AG A 660 PASS - - - - - Del - D 133522396 133522398 1 42 594.228 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 5 7 7 30 25 30 25 7 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750886367 9 134532356 GAGAGA G 1163 PASS RAPGEF1 CCDS48048.1 r.? - - Del intronic D 134532356 134532367 5 156 1239.52 - - 2 1 1 RAPGEF1|CCDS48048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAPGEF1|CCDS48048.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 11 12 14 12 46 49 46 49 14 12 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750890011 X 5439855 G GA 360 PASS - - - - - Ins - I 5439855 5439865 1 16 321.047 - - 9 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 3 3 4 3 40 39 41 39 4 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750890346 X 6233434 T TGCTA 360 PASS - - - - - Ins - I 6233434 6233442 4 7 310.21 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 0 7 0 39 21 42 21 7 0 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750893203 X 16269124 G GT 300 PASS - - - - - Ins - I 16269124 16269134 1 12 266.335 - - 9 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 2 3 30 32 30 32 2 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750897975 X 32948573 TAAAAG T 329 PASS DMD CCDS14233.1 r.? - - Del intronic D 32948573 32948581 5 12 324.659 - - 1 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 1 5 3 6 30 19 30 19 3 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750898017 X 33048409 G GTA 360 PASS DMD CCDS14233.1 r.? - - Ins intronic I 33048409 33048413 2 15 317.434 - - 1 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 4 4 4 32 28 32 28 4 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750898934 X 36584905 G GA 420 PASS - - - - - Ins - I 36584905 36584912 1 20 374.554 - - 6 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 4 3 4 3 41 16 41 16 4 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750901124 X 44826553 CCTTTGGCTACCTCCTTCTCCTCT C 261 PASS KDM6A CCDS14265.1 r.? - - Del intronic D 44826553 44826583 23 28 486.988 - - 1 1 1 KDM6A|CCDS14265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KDM6A|CCDS14265.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 6 3 5 2 35 19 36 20 6 3 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750903180 X 52622485 CT C 480 PASS - - - - - Del - D 52622485 52622491 1 25 432.879 - - 5 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 4 5 5 40 37 40 37 5 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750907334 X 73304961 CA C 538 PASS - - - - - Del - D 73304961 73304965 1 35 541.098 - - 3 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 4 7 5 30 29 30 29 7 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750908802 X 79335686 TGTCTAGG T 406 PASS - - - - - Del - D 79335686 79335697 7 64 756.936 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 7 7 7 6 31 41 31 42 7 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750908972 X 79845625 TG T 387 PASS - - - - - Del - D 79845625 79845634 1 25 432.277 - - 8 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 4 6 5 25 31 25 31 6 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750909701 X 82322046 GC G 360 PASS - - - - - Del - D 82322046 82322051 1 16 324.057 - - 4 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 4 5 35 34 35 34 4 5 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750909932 X 83409208 T TA 300 PASS RPS6KA6 CCDS14451.1 r.? - - Ins intronic I 83409208 83409210 1 12 267.539 - - 1 1 1 RPS6KA6|CCDS14451.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RPS6KA6|CCDS14451.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 17 12 0 0 ./. 3 2 5 2 22 20 24 22 5 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750911338 X 88015959 TG T 780 PASS - - - - - Del - D 88015959 88015962 1 56 702.826 - - 2 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 7 7 7 24 23 24 23 7 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750911881 X 89710246 G GT 540 PASS - - - - - Ins - I 89710246 89710253 1 30 481.57 - - 6 1 1 - - ./. 0 0 0 0 10 8 11 8 0 0 ./. 4 5 11 6 39 31 40 31 11 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750915288 X 102664283 GT G 360 PASS - - - - - Del - D 102664283 102664285 1 7 322.251 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 10 0 0 ./. 6 0 6 0 23 36 23 37 6 0 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750915801 X 104491287 ATAAGGGGTTGAATTTC A 290 PASS IL1RAPL2 CCDS14517.1 r.? - - Del intronic D 104491287 104491305 16 35 539.894 - - 1 1 1 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL2|CCDS14517.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 6 4 6 4 40 30 40 30 6 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750918701 X 116339007 ACTACTC A 261 PASS - - - - - Del - D 116339007 116339016 6 30 486.988 - - 1 1 1 - - ./. 0 0 0 0 18 7 18 7 0 0 ./. 4 5 4 7 23 30 24 30 5 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750920668 X 122838301 C CACAGT 296 PASS THOC2 CCDS43988.1 r.? - - Ins intronic I 122838301 122838309 5 20 357.697 - - 1 1 1 THOC2|CCDS43988.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 THOC2|CCDS43988.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 10 6 10 0 0 ./. 3 4 4 4 28 35 28 37 4 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750924199 X 135476563 ACT A 480 PASS GPR112 CCDS35409.1 r.? - - Del intronic D 135476563 135476568 2 24 431.675 - - 2 1 1 GPR112|CCDS35409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPR112|CCDS35409.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 3 5 4 6 23 36 23 36 4 6 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750925210 X 139193688 G GT 360 PASS - - - - - Ins - I 139193688 139193698 1 15 312.016 - - 9 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 2 4 2 28 25 28 26 4 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750926258 X 142952431 GA G 300 PASS - - - - - Del - D 142952431 142952441 1 12 270.549 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 5 4 21 20 21 20 5 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750926887 X 144925797 AT A 300 PASS - - - - - Del - D 144925797 144925805 1 12 270.549 - - 7 1 1 - - ./. 0 0 0 0 15 24 15 24 0 0 ./. 3 2 4 2 29 28 29 28 4 2 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750928432 X 150605308 GT G 569 PASS - - - - - Del - D 150605308 150605314 1 32 540.496 - - 5 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 7 3 8 4 25 32 25 32 8 4 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750928711 X 151831479 CT C 480 PASS - - - - - Del - D 151831479 151831484 1 9 432.879 - - 4 1 1 - - ./. 0 0 0 0 19 10 19 10 0 0 ./. 8 0 11 1 32 27 32 27 11 1 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750929052 X 153187631 TCC T 360 PASS ARHGAP4 CCDS14736.1 r.? - - Del intronic D 153187631 153187636 2 12 313.822 - - 4 1 1 ARHGAP4|CCDS14736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARHGAP4|CCDS14736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 4 10 4 0 0 ./. 1 5 2 7 23 35 23 35 2 7 1 1 1 1 1 1 1 1 2731454 PD13632a PD13632b 2750929092 X 153344062 AAAAG A 255 PASS MECP2 CCDS14741.1 r.? - - Del intronic D 153344062 153344072 4 16 308.403 - - 2 1 1 MECP2|CCDS14741.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MECP2|CCDS14741.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 3 4 5 39 22 39 22 4 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747784304 1 4575736 CTT C 360 PASS - - - - - Del - D 4575736 4575740 2 15 322.055 - - 3 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 4 3 7 32 39 32 39 3 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747787243 1 11081210 T TA 540 PASS TARDBP CCDS122.1 r.? - - Ins intronic I 11081210 11081211 1 28 474.052 - - 0 1 1 TARDBP|CCDS122.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TARDBP|CCDS122.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 12 15 12 0 0 ./. 6 3 7 3 51 29 51 29 7 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747787611 1 11900471 CT C 540 PASS CLCN6 CCDS138.1 r.2854delU c.? p.? Del 3'UTR variant D 11900471 11900476 1 28 483.082 - - 4 1 1 CLCN6|CCDS138.1|r.2854delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CLCN6|CCDS138.1|r.2854delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 7 14 7 0 0 ./. 6 3 7 6 22 19 22 19 7 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747789638 1 16904107 G GAAGA 261 PASS AL355149.1 ENST00000515775 r.? - - Ins intronic I 16904107 16904112 4 20 512.074 - - 1 1 1 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 29 26 29 26 0 0 ./. 1 9 1 9 97 103 97 105 1 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747796988 1 33482635 TCTCA T 598 PASS AK2 CCDS373.1 r.? - - Del intronic D 33482635 33482642 4 30 590.434 - - 1 1 1 AK2|CCDS373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AK2|CCDS373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 9 2 9 3 29 23 29 23 9 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747798651 1 37706868 GGT G 300 PASS - - - - - Del - D 37706868 37706884 2 12 268.379 - - 7 1 - - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 2 3 48 47 48 47 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747803836 1 49317592 AC A 360 PASS AGBL4 CCDS44137.1 r.? - - Del intronic D 49317592 49317594 1 15 322.055 - - 1 1 1 AGBL4|CCDS44137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGBL4|CCDS44137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 4 3 4 24 45 24 45 3 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747804130 1 50604690 G GA 480 PASS ELAVL4 CCDS44140.1 r.? - - Ins intronic I 50604690 50604699 1 24 423.988 - - 8 1 1 ELAVL4|CCDS44140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ELAVL4|CCDS44140.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 7 15 7 0 0 ./. 5 3 7 4 63 36 63 36 7 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747806586 1 55749351 CCT C 300 PASS - - - - - Del - D 55749351 55749367 2 12 268.379 - - 7 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 3 2 4 2 52 46 52 46 4 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747815514 1 79954220 TG T 360 PASS - - - - - Del - D 79954220 79954222 1 12 322.055 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 1 5 2 6 35 46 35 46 2 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747820919 1 93448373 GC G 420 PASS - - - - - Del - D 93448373 93448375 1 20 375.731 - - 1 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 4 3 4 3 36 19 36 19 4 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747822652 1 98319342 CATAA C 567 PASS DPYD CCDS30777.1 r.? - - Del intronic D 98319342 98319350 4 36 590.434 - - 1 1 1 DPYD|CCDS30777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPYD|CCDS30777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 8 3 10 24 37 24 37 3 10 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747825306 1 105933183 A AC 300 PASS - - - - - Ins - I 105933183 105933184 1 10 258.144 - - 0 1 1 - - ./. 0 0 0 0 8 10 8 11 0 0 ./. 4 1 4 0 33 29 34 31 4 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747830184 1 119551756 TTTC T 720 PASS - - - - - Del - D 119551756 119551768 3 40 637.487 - - 3 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 9 3 11 39 34 39 34 3 11 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747833180 1 143527373 AC A 352 PASS - - - - - Del - D 143527373 143527375 1 19 964.961 - - 1 1 1 - - ./. 0 0 0 0 46 33 46 33 0 0 ./. 18 0 24 2 186 130 186 130 24 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747835400 1 148872275 C CT 304 PASS - - - - - Ins - I 148872275 148872276 1 18 477.664 - - 0 1 1 - - ./. 0 0 0 0 36 23 37 23 0 0 ./. 8 1 8 0 98 105 99 107 8 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747839995 1 158496833 CT C 1080 PASS - - - - - Del - D 158496833 158496835 1 84 966.165 - - 1 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 13 8 13 31 49 31 49 8 13 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747847199 1 177112045 GGA G 480 PASS ASTN1 CCDS1319.1 r.? - - Del intronic D 177112045 177112049 2 16 423.988 - - 1 1 1 ASTN1|CCDS1319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASTN1|CCDS1319.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 4 7 4 0 0 ./. 7 1 2 5 18 25 18 25 8 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747849916 1 183239678 A AG 300 PASS NMNAT2 CCDS1353.1 r.? - - Ins intronic I 183239678 183239679 1 10 264.165 - - 0 1 1 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 4 14 4 0 0 ./. 1 4 1 4 39 30 39 30 1 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747850509 1 184830485 A AT 269 PASS FAM129A CCDS1364.1 r.? - - Ins intronic I 184830485 184830493 1 12 265.369 - - 7 1 1 FAM129A|CCDS1364.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM129A|CCDS1364.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 14 7 14 0 0 ./. 3 2 5 3 29 47 29 48 5 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747854802 1 196135396 TAGAA T 749 PASS - - - - - Del - D 196135396 196135406 4 56 697.786 - - 2 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 7 6 7 7 45 38 45 38 7 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747855475 1 198057775 TTCTC T 629 PASS - - - - - Del - D 198057775 198057787 4 40 589.832 - - 5 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 7 4 9 7 49 43 49 43 9 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747860305 1 209506645 T TA 300 PASS - - - - - Ins - I 209506645 209506654 1 10 264.767 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 1 4 5 7 53 46 53 47 5 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747865916 1 223196989 G GT 480 PASS - - - - - Ins - I 223196989 223196994 1 21 422.182 - - 4 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 6 4 8 39 48 40 48 4 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747870396 1 234036015 TA T 840 PASS SLC35F3 CCDS1600.1 r.? - - Del upstream D 234036015 234036024 1 64 751.461 - - 8 1 1 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 10 7 10 7 0 0 ./. 7 7 11 7 32 32 32 32 11 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747872147 1 237234210 T TA 600 PASS RYR2 ENST00000366574 r.? - - Ins intronic I 237234210 237234212 1 32 529.534 - - 1 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 7 3 9 6 50 45 50 45 9 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747873279 1 240076081 GA G 660 PASS CHRM3 CCDS1616.1 r.6110delA c.? p.? Del 3'UTR variant D 240076081 240076085 1 40 590.434 - - 3 1 1 CHRM3|CCDS1616.1|r.6110delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 CHRM3|CCDS1616.1|r.6110delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 7 6 7 34 36 34 36 6 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747878393 10 2049393 A AG 420 PASS - - - - - Ins - I 2049393 2049395 1 18 370.091 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 5 3 9 37 42 37 42 3 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747881544 10 8614254 GAA G 300 PASS - - - - - Del - D 8614254 8614257 2 12 268.909 - - 2 1 1 - - ./. 0 0 0 0 4 15 4 15 0 0 ./. 3 2 5 2 21 34 21 34 5 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747886308 10 19389719 G GT 300 PASS ENSG00000234778 ENST00000455529 r.? - - Ins intronic I 19389719 19389729 1 10 259.878 - - 9 1 1 ENSG00000234778|ENST00000455529|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000234778|ENST00000455529|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 1 4 1 4 21 46 22 46 1 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747888190 10 24523608 AG A 300 PASS KIAA1217 CCDS31165.1 r.? - - Del intronic D 24523608 24523610 1 6 265.297 - - 1 1 - KIAA1217|CCDS31165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1217|CCDS31165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 5 0 7 0 40 22 40 22 7 0 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747890814 10 29938598 TAC T 360 PASS SVIL CCDS7164.1 r.? - - Del intronic D 29938598 29938616 2 12 322.811 - - 8 1 1 SVIL|CCDS7164.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SVIL|CCDS7164.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 1 5 2 5 32 28 32 28 2 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747894718 10 38925426 C CCA 290 PASS - - - - - Ins - I 38925426 38925427 2 24 420.983 - - 0 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 5 3 0 0 31 26 31 27 5 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747897467 10 45207545 C CT 540 PASS - - - - - Ins - I 45207545 45207547 1 30 479.1 - - 1 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 4 5 5 36 30 37 30 5 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747898134 10 48483875 G GA 480 PASS - - - - - Ins - I 48483875 48483881 1 24 426.402 - - 5 1 1 - - ./. 0 0 0 0 15 9 15 10 0 0 ./. 3 5 3 8 27 33 27 33 3 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747902364 10 61212155 TA T 720 PASS - - - - - Del - D 61212155 61212165 1 49 646.827 - - 9 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 6 6 6 6 28 42 28 42 6 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747920174 10 110924765 G GT 300 PASS - - - - - Ins - I 110924765 110924775 1 12 263.491 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 3 2 3 37 36 37 37 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747920545 10 112136714 TC T 420 PASS - - - - - Del - D 112136714 112136719 1 18 377.316 - - 4 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 5 2 5 27 25 27 25 2 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747926122 10 127090271 A AT 420 PASS - - - - - Ins - I 127090271 127090278 1 20 373.101 - - 6 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 3 5 4 31 25 33 25 5 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747930132 11 2451976 TTGG T 269 PASS - - - - - Del - D 2451976 2451990 3 10 263.226 - - 4 1 - - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 1 4 1 1 40 43 40 43 2 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747930832 11 4043187 A AT 329 PASS STIM1 CCDS7749.1 r.? - - Ins intronic I 4043187 4043196 1 12 319.002 - - 8 1 1 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STIM1|CCDS7749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 1 5 3 9 52 41 52 41 3 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747931156 11 4742651 ACTT A 689 PASS - - - - - Del - D 4742651 4742657 3 45 647.637 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 8 6 9 42 44 42 44 6 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747933328 11 9472143 A AC 300 PASS IPO7 CCDS31425.1 r.? - - Ins downstream I 9472143 9472144 1 10 254.195 - - 0 1 - IPO7|CCDS31425.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 IPO7|CCDS31425.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 10 9 10 10 0 0 ./. 4 1 4 2 52 52 53 52 4 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747936644 11 17898562 GGGCCTGCA G 261 PASS SERGEF CCDS7828.1 r.? - - Del intronic D 17898562 17898571 8 28 483.922 - - 1 1 1 SERGEF|CCDS7828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SERGEF|CCDS7828.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 6 3 7 5 42 33 42 33 7 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747941825 11 30619264 T TA 360 PASS - - - - - Ins - I 30619264 30619271 1 16 320.206 - - 6 1 1 - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 3 5 5 50 34 50 35 5 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747949541 11 49062007 G GT 488 PASS ENSG00000182053 ENST00000332682 r.? - - Ins downstream I 49062007 49062016 1 30 479.105 - - 8 1 1 ENSG00000182053|ENST00000332682|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000182053|ENST00000332682|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 5 6 5 31 48 31 48 6 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747953578 11 64270287 GTGTCTGCGTCTGCGTC G 321 PASS - - - - - Del - D 64270287 64270333 16 36 539.698 - - 2 1 - - - ./. 0 0 0 0 8 4 8 4 0 0 ./. 5 5 3 2 39 26 39 26 5 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747957791 11 72947763 ACTC A 478 PASS P2RY2 CCDS8219.1 r.? - - Del downstream D 72947763 72947775 3 28 485.126 - - 3 1 1 P2RY2|CCDS8219.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 P2RY2|CCDS8219.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 5 8 5 8 0 0 ./. 6 3 6 5 28 26 29 26 7 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747963423 11 90355577 CA C 300 PASS - - - - - Del - D 90355577 90355585 1 12 267.441 - - 7 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 4 6 34 33 34 33 4 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747975502 11 125061073 T TA 360 PASS PKNOX2 CCDS41730.1 r.? - - Ins intronic I 125061073 125061081 1 12 317.798 - - 7 1 1 PKNOX2|CCDS41730.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PKNOX2|CCDS41730.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 5 1 6 2 26 27 26 27 6 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747984931 12 12720658 G GA 660 PASS - - - - - Ins - I 12720658 12720667 1 36 583.739 - - 8 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 8 3 8 4 49 36 49 36 9 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747986549 12 16933899 T TA 300 PASS - - - - - Ins - I 16933899 16933909 1 12 266.704 - - 9 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 4 2 53 44 53 44 4 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747987190 12 18770934 A AT 300 PASS PIK3C2G CCDS44839.1 r.? - - Ins intronic I 18770934 18770941 1 12 266.704 - - 6 1 1 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PIK3C2G|CCDS44839.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 4 3 39 41 41 41 4 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747993118 12 32032516 GT G 329 PASS - - - - - Del - D 32032516 32032518 1 7 323.657 - - 1 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 6 0 11 0 31 18 31 20 11 0 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747996795 12 44002952 ATTGT A 329 PASS - - - - - Del - D 44002952 44002961 4 16 323.657 - - 2 1 1 - - ./. 0 0 0 0 12 20 12 20 0 0 ./. 3 3 4 4 28 33 28 33 4 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747997220 12 45424961 CT C 449 PASS DBX2 CCDS31781.1 r.? - - Del intronic D 45424961 45424964 1 21 430.941 - - 2 1 1 DBX2|CCDS31781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DBX2|CCDS31781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 2 6 2 7 25 37 25 37 2 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2747999261 12 50624359 CTTT C 358 PASS LIMA1 CCDS44877.1 r.? - - Del intronic D 50624359 50624369 3 18 377.6 - - 9 1 - LIMA1|CCDS44877.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIMA1|CCDS44877.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 5 3 6 42 47 42 47 3 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748001100 12 54144148 GTGGACAGCTTTGCTAGCC G 522 PASS - - - - - Del - D 54144148 54144171 18 100 969.166 - - 1 1 1 - - ./. 0 0 0 0 4 6 4 6 0 0 ./. 9 9 7 9 32 28 34 29 9 10 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748003561 12 60387580 AT A 689 PASS - - - - - Del - D 60387580 60387583 1 48 647.315 - - 2 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 7 7 7 29 32 29 32 7 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748004088 12 61787186 AG A 780 PASS - - - - - Del - D 61787186 61787189 1 56 700.054 - - 2 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 7 6 9 7 41 44 41 44 9 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748011431 12 81052476 G GT 300 PASS PTPRQ ENST00000418574 r.? - - Ins intronic I 81052476 81052486 1 12 264.898 - - 9 1 1 PTPRQ|ENST00000418574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRQ|ENST00000418574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 18 17 18 0 0 ./. 3 2 3 3 43 50 43 50 3 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748017181 12 96579398 C CA 1020 PASS - - - - - Ins - I 96579398 96579404 1 84 906.192 - - 5 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 11 6 13 7 38 44 38 45 13 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748017865 12 98158047 C CT 300 PASS - - - - - Ins - I 98158047 98158053 1 6 266.704 - - 5 1 - - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 5 0 7 1 63 39 65 39 7 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748024479 12 114679349 GT G 300 PASS - - - - - Del - D 114679349 114679356 1 6 269.714 - - 6 1 1 - - ./. 0 0 0 0 4 13 4 13 0 0 ./. 5 0 6 6 25 24 25 24 6 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748024686 12 115112592 T TC 877 PASS TBX3 CCDS9176.1 r.2111_2112insg c.1147_1148insG p.E383fs*24 Ins frameshift I 115112592 115112594 1 70 798.306 - - 1 1 1 TBX3|CCDS9176.1|r.2111_2112insg|c.1147_1148insG|p.E383fs*24|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 TBX3|CCDS9176.1|r.2111_2112insg|c.1147_1148insG|p.E383fs*24|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 10 10 10 10 0 0 ./. 6 9 8 14 36 53 37 54 8 14 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748025469 12 116773296 AT A 300 PASS - - - - - Del - D 116773296 116773306 1 6 269.714 - - 9 1 - - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 0 5 0 48 21 48 21 5 0 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748031859 12 128930346 G GC 420 PASS TMEM132C CCDS45009.1 r.? - - Ins intronic I 128930346 128930353 1 14 372.784 - - 6 1 1 TMEM132C|CCDS45009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM132C|CCDS45009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 1 6 1 35 33 36 34 6 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748032735 12 130960297 C CA 360 PASS RIMBP2 CCDS31925.1 r.? - - Ins intronic I 130960297 130960304 1 15 320.045 - - 6 1 1 RIMBP2|CCDS31925.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RIMBP2|CCDS31925.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 2 4 2 4 28 33 29 33 2 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748040396 13 33315183 TC T 360 PASS PDS5B CCDS41878.1 r.? - - Del intronic D 33315183 33315187 1 15 323.706 - - 3 1 1 PDS5B|CCDS41878.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDS5B|CCDS41878.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 2 6 2 33 22 33 22 6 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748040509 13 33646702 G GT 300 PASS - - - - - Ins - I 33646702 33646712 1 10 267.146 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 1 4 1 35 37 35 39 4 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748054555 13 73145749 G GT 269 PASS - - - - - Ins - I 73145749 73145759 1 12 267.748 - - 9 1 1 - - ./. 0 0 0 0 20 9 20 9 0 0 ./. 3 2 3 3 39 35 39 37 3 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748059297 13 86723191 TTG T 300 PASS - - - - - Del - D 86723191 86723207 2 12 266.544 - - 7 1 - - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 2 3 2 3 31 35 31 35 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748060159 13 89607591 G GA 480 PASS - - - - - Ins - I 89607591 89607600 1 21 428.397 - - 8 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 2 6 3 30 27 32 27 6 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748062381 13 95749687 CAG C 269 PASS ABCC4 CCDS9474.1 r.? - - Del intronic D 95749687 95749703 2 12 270.758 - - 7 1 1 ABCC4|CCDS9474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCC4|CCDS9474.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 3 17 30 17 30 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748063790 13 99315188 G GGA 300 PASS - - - - - Ins - I 99315188 99315189 2 6 259.319 - - 0 1 - - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 0 5 0 1 34 34 35 34 0 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748069425 14 19013468 A AA 720 PASS - - - - - Ins - I 19013466 19013469 1 40 641.428 - - 2 1 1 - - ./. 0 0 0 0 26 42 26 43 0 0 ./. 3 9 0 2 74 205 75 206 3 11 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748074691 14 32282680 C CATATATATACACACATACATATATACAGAT 337 PASS NUBPL CCDS41940.1 r.? - - Ins intronic I 32282680 32282690 30 16 215.956 - - 0 1 - NUBPL|CCDS41940.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUBPL|CCDS41940.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 3 0 0 47 37 47 37 3 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748081144 14 49386277 T TA 480 PASS - - - - - Ins - I 49386277 49386286 1 25 428.421 - - 8 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 4 9 4 35 40 35 40 9 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748083247 14 54094955 C CT 269 PASS - - - - - Ins - I 54094955 54094965 1 12 264.151 - - 9 1 1 - - ./. 0 0 0 0 10 18 10 18 0 0 ./. 3 2 4 3 40 31 41 32 4 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748083295 14 54291676 TA T 480 PASS - - - - - Del - D 54291676 54291683 1 21 433.238 - - 6 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 6 4 8 32 26 32 26 4 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748085645 14 59643440 CAG C 360 PASS - - - - - Del - D 59643440 59643445 2 15 324.928 - - 2 1 1 - - ./. 0 0 0 0 13 5 13 5 0 0 ./. 2 4 2 4 36 29 36 29 2 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748088083 14 65873217 TTTTTC T 449 PASS FUT8 CCDS9775.1 r.? - - Del upstream D 65873217 65873238 5 24 432.636 - - 4 1 - FUT8|CCDS9775.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 FUT8|CCDS9775.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 5 7 5 7 0 0 ./. 3 5 4 7 36 34 36 34 4 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748100647 14 97350878 T TA 300 PASS VRK1 CCDS9947.1 r.? - - Ins downstream I 97350878 97350888 1 12 267.763 - - 9 1 1 VRK1|CCDS9947.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 VRK1|CCDS9947.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 17 11 17 11 0 0 ./. 3 2 6 2 46 41 46 42 6 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748101366 14 99651796 A AC 300 PASS BCL11B CCDS9949.1 r.? - - Ins intronic I 99651796 99651797 1 10 261.141 - - 0 1 - BCL11B|CCDS9949.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BCL11B|CCDS9949.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 2 10 2 0 0 ./. 1 4 1 4 43 32 43 33 1 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748101534 14 100092601 CGG C 420 PASS AL160313.2 ENST00000502101 r.? - - Del downstream D 100092601 100092606 2 20 376.073 - - 4 1 - AL160313.2|ENST00000502101|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 AL160313.2|ENST00000502101|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 4 11 4 11 0 0 ./. 3 4 4 5 35 38 35 38 4 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748117679 15 51222979 G GT 840 PASS AP4E1 CCDS32240.1 r.? - - Ins intronic I 51222979 51222988 1 63 749.25 - - 8 1 1 AP4E1|CCDS32240.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AP4E1|CCDS32240.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 8 6 9 9 34 29 36 29 9 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748119543 15 55902255 AT A 360 PASS PRTG CCDS42040.1 r.? - - Del downstream D 55902255 55902258 1 15 324.978 - - 2 1 1 PRTG|CCDS42040.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PRTG|CCDS42040.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 2 5 5 27 40 27 40 5 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748122815 15 63624867 TA T 540 PASS CA12 CCDS10185.1 r.? - - Del intronic D 63624867 63624870 1 30 487.466 - - 2 1 1 CA12|CCDS10185.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CA12|CCDS10185.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 4 5 5 51 43 51 43 5 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748128305 15 76824654 A ACCCCT 327 PASS SCAPER ENST00000303521 r.? - - Ins intronic I 76824654 76824675 5 20 356.864 - - 4 1 1 SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCAPER|ENST00000303521|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 3 16 3 0 0 ./. 3 4 5 4 27 26 28 26 6 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748132701 15 88709087 AGT A 300 PASS NTRK3 CCDS10340.1 r.? - - Del intronic D 88709087 88709106 2 12 267.804 - - 9 1 - NTRK3|CCDS10340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NTRK3|CCDS10340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 3 2 5 42 38 42 38 2 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748133132 15 89862639 C CCTTG 716 PASS FANCI CCDS45346.1 r.? - - Ins downstream I 89862639 89862644 4 55 720.953 - - 1 1 1 FANCI|CCDS45346.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 POLG|CCDS10350.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 10 5 12 32 55 32 55 5 12 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748134885 15 93508201 CT C 420 PASS CHD2 CCDS10374.2 r.? - - Del intronic D 93508201 93508206 1 20 379.141 - - 4 1 1 CHD2|CCDS10374.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHD2|CCDS10374.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 4 4 7 30 37 30 37 4 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748134959 15 93673396 CA C 480 PASS - - - - - Del - D 93673396 93673398 1 25 429.089 - - 1 1 1 - - ./. 0 0 0 0 17 5 17 5 0 0 ./. 4 4 5 5 35 40 35 40 5 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748135455 15 94766675 G GT 329 PASS - - - - - Ins - I 94766675 94766685 1 15 318.957 - - 9 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 4 2 4 2 46 46 46 46 4 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748138143 15 101291797 AAG A 269 PASS - - - - - Del - D 101291797 101291815 2 12 269.009 - - 8 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 3 2 3 2 32 34 32 34 3 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748140788 16 4300051 TAACGGGA T 290 PASS AC009171.1 ENST00000500351 r.? - - Del intronic D 4300051 4300061 7 35 540.885 - - 1 1 1 AC009171.1|ENST00000500351|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC009171.1|ENST00000500351|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 6 4 7 6 41 40 42 40 8 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748141484 16 5517198 T TC 360 PASS - - - - - Ins - I 5517198 5517199 1 15 317.307 - - 0 1 - - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 2 5 4 52 44 52 44 5 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748143148 16 8608261 GA G 300 PASS - - - - - Del - D 8608261 8608270 1 12 269.841 - - 8 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 2 3 4 4 44 60 44 60 4 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748147722 16 17020125 T TA 600 PASS - - - - - Ins - I 17020125 17020126 1 36 530.651 - - 0 1 1 - - ./. 0 0 0 0 11 4 11 5 0 0 ./. 5 5 0 0 31 50 31 50 5 12 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748150844 16 23822696 C CT 540 PASS - - - - - Ins - I 23822696 23822705 1 30 480.776 - - 8 1 - - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 4 5 5 5 54 33 56 33 5 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748150851 16 23835062 AAAAGAAAAGAAAAGAAAAGAAAAG A 269 PASS - - - - - Del - D 23835062 23835090 24 10 270.443 - - 1 1 - - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 4 1 0 0 42 36 42 36 4 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748152432 16 26740278 TTC T 300 PASS - - - - - Del - D 26740278 26740297 2 12 270.443 - - 9 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 3 3 3 47 48 47 48 3 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748154102 16 30118022 TTTTA T 420 PASS GDPD3 CCDS10671.2 r.? - - Del intronic D 30118022 30118046 4 18 378.62 - - 5 1 - GDPD3|CCDS10671.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GDPD3|CCDS10671.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 5 3 6 35 36 35 36 3 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748158440 16 46490717 CT C 261 PASS - - - - - Del - D 46490717 46490722 1 22 594.974 - - 4 1 1 - - ./. 0 0 0 0 25 10 25 10 0 0 ./. 10 1 14 2 95 57 95 57 14 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748164370 16 62481094 G GA 360 PASS - - - - - Ins - I 62481094 62481102 1 12 320.919 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 5 1 5 2 43 38 43 38 5 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748164895 16 63801660 C CA 480 PASS - - - - - Ins - I 63801660 63801667 1 25 427.892 - - 6 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 4 5 6 37 28 37 29 5 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748167429 16 70395915 TC T 358 PASS DDX19A CCDS10889.1 r.? - - Del intronic D 70395915 70395917 1 20 377.416 - - 1 1 1 DDX19A|CCDS10889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DDX19A|CCDS10889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 3 5 4 41 35 41 35 5 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748180584 17 8093805 A AC 300 PASS C17orf59 CCDS11133.2 r.? - - Ins upstream I 8093805 8093814 1 12 266.139 - - 8 1 1 C17orf59|CCDS11133.2|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 C17orf59|CCDS11133.2|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 2 4 2 34 23 35 23 4 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748180888 17 8653723 T TAAATA 480 PASS SPDYE4 CCDS45609.1 r.? - - Ins downstream I 8653723 8653746 5 24 408.483 - - 4 1 - SPDYE4|CCDS45609.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SPDYE4|CCDS45609.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 5 7 5 7 0 0 ./. 3 5 6 5 24 18 24 18 6 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748184201 17 16736626 CTGCT C 262 PASS - - - - - Del - D 16736626 16736635 4 11 540.104 - - 2 1 1 - - ./. 0 0 0 0 14 0 14 0 0 0 ./. 10 0 12 0 76 6 76 6 12 0 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748186056 17 20641623 A AT 300 PASS - - - - - Ins - I 20641623 20641633 1 12 266.139 - - 9 1 1 - - ./. 0 0 0 0 9 10 10 10 0 0 ./. 2 3 2 4 56 53 56 53 2 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748187445 17 22159276 C CA 660 PASS - - - - - Ins - I 22159276 22159284 1 36 585.144 - - 7 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 8 6 8 33 38 33 40 6 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748191812 17 33599673 C CA 1080 PASS SLFN5 CCDS32619.1 r.? - - Ins downstream I 33599673 33599680 1 96 962.434 - - 6 1 1 SLFN5|CCDS32619.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SLFN5|CCDS32619.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 9 12 10 12 0 0 ./. 7 11 12 15 39 55 40 55 12 15 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748192151 17 34328811 TA T 300 PASS CCL15 CCDS11304.1 r.? - - Del upstream D 34328811 34328821 1 10 270.353 - - 9 1 1 CCL15|CCDS11304.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CCL15|CCDS11304.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 1 4 1 39 38 39 38 4 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748194816 17 39431997 C CACTTGCTGCAGGACT 481 PASS KRTAP9L1 ENST00000391354 r.87_88insacuugcugcaggacu c.48_49insACTTGCTGCAGGACT p.C18_W19insCRTTC Ins inframe I 39431997 39432000 15 14 585.516 - - 0 1 1 KRTAP9L1|ENST00000391354|r.87_88insacuugcugcaggacu|c.48_49insACTTGCTGCAGGACT|p.C18_W19insCRTTC|protein_coding:CDS:exon:insertion:inframe_variant:inframe_codon_gain|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001650:SO:0001651 KRTAP9L1|ENST00000391354|r.87_88insacuugcugcaggacu|c.48_49insACTTGCTGCAGGACT|p.C18_W19insCRTTC|protein_coding:CDS:exon:insertion:inframe_variant:inframe_codon_gain|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001650:SO:0001651 ./. 0 0 0 0 8 5 8 5 0 0 ./. 13 0 1 0 37 10 50 10 14 0 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748197637 17 44181571 CGTCA C 360 PASS KIAA1267 CCDS11503.1 r.? - - Del intronic D 44181571 44181581 4 16 324.424 - - 2 1 1 KIAA1267|CCDS11503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1267|CCDS11503.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 3 3 4 40 39 40 39 3 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748197979 17 45165704 TAC T 960 PASS AC005670.1 CCDS7221.1 r.? - - Del intronic D 45165704 45165708 2 72 864.528 - - 1 1 1 AC005670.1|CCDS7221.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC005670.1|CCDS7221.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 5 11 9 16 45 45 45 45 9 16 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748199231 17 47066203 TG T 772 PASS - - - - - Del - D 47066203 47066205 1 54 702.316 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 8 7 13 44 42 44 42 7 13 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748201727 17 52157894 C CA 300 PASS - - - - - Ins - I 52157894 52157903 1 12 267.343 - - 8 1 1 - - ./. 0 0 0 0 17 5 17 5 0 0 ./. 3 2 3 6 39 28 39 29 3 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748206328 17 61783803 TACC T 718 PASS KCNH6 CCDS11638.1 r.? - - Del intronic D 61783803 61783811 3 50 699.908 - - 2 1 1 KCNH6|CCDS11638.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 KCNH6|CCDS11638.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 9 5 9 39 41 39 41 5 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748208408 17 65655828 CTCTTT C 420 PASS PITPNC1 ENST00000423236 r.? - - Del intronic D 65655828 65655840 5 18 378.494 - - 2 1 1 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 2 5 2 7 34 55 34 55 2 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748209604 17 67952888 TAC T 360 PASS - - - - - Del - D 67952888 67952903 2 7 322.016 - - 7 1 1 - - ./. 0 0 0 0 3 11 3 11 0 0 ./. 0 6 0 6 16 56 16 56 0 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748210108 17 69022481 ACTTTC A 300 PASS - - - - - Del - D 69022481 69022492 5 12 270.353 - - 2 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 2 5 23 36 23 36 2 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748210542 17 70123459 G GT 1080 PASS SOX9 CCDS11689.1 r.? - - Ins downstream I 70123459 70123463 1 99 962.434 - - 3 1 1 SOX9|CCDS11689.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SOX9|CCDS11689.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 8 8 8 8 0 0 ./. 8 10 10 17 38 42 39 42 10 17 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748213509 17 75319391 CT C 300 PASS SEPT9 CCDS45791.1 r.? - - Del intronic D 75319391 75319401 1 12 270.353 - - 9 1 1 SEPT9|CCDS45791.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEPT9|CCDS45791.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 15 2 15 0 0 ./. 3 2 3 2 54 45 54 45 3 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748214292 17 76847439 AAG A 300 PASS TIMP2 CCDS11758.1 r.? - - Del downstream D 76847439 76847457 2 12 270.353 - - 8 1 1 TIMP2|CCDS11758.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TIMP2|CCDS11758.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 2 3 3 64 49 64 49 3 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748218368 18 3442406 A AT 900 PASS TGIF1 CCDS11835.1 r.? - - Ins intronic I 3442406 3442416 1 70 803.337 - - 9 1 1 TGIF1|CCDS11835.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TGIF1|CCDS11835.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 6 9 7 11 29 29 29 30 7 11 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748221418 18 11883421 TA T 420 PASS GNAL CCDS11851.1 r.3963delA c.? p.? Del 3'UTR variant D 11883421 11883424 1 20 379.105 - - 2 1 1 GNAL|CCDS11851.1|r.3963delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 GNAL|CCDS11851.1|r.3963delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 3 5 4 25 27 25 27 5 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748222959 18 15182264 GA G 289 PASS - - - - - Del - D 15182264 15182272 1 35 541.578 - - 7 1 1 - - ./. 0 0 0 0 44 43 44 43 0 0 ./. 6 4 7 4 94 96 94 97 7 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748224210 18 20670331 C CT 283 PASS - - - - - Ins - I 20670331 20670340 1 15 320.733 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 4 6 4 44 42 44 44 6 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748224890 18 21999933 GAC G 300 PASS - - - - - Del - D 21999933 21999949 2 10 270.789 - - 7 1 - - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 1 4 1 4 35 45 35 45 1 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748227096 18 27885617 TTC T 420 PASS - - - - - Del - D 27885617 27885636 2 20 379.105 - - 9 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 3 5 5 38 42 38 42 5 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748231398 18 40341877 C CT 1020 PASS RIT2 CCDS11921.1 r.? - - Ins intronic I 40341877 40341881 1 60 910.448 - - 3 1 1 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RIT2|CCDS11921.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 13 0 0 ./. 14 3 15 4 45 27 45 27 15 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748233756 18 46712023 G GA 420 PASS DYM CCDS11937.1 r.? - - Ins intronic I 46712023 46712031 1 18 374.891 - - 7 1 1 DYM|CCDS11937.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DYM|CCDS11937.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 5 2 5 4 35 31 35 31 5 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748240578 18 63475915 G GT 300 PASS CDH7 CCDS11993.1 r.? - - Ins intronic I 63475915 63475925 1 12 263.565 - - 9 1 1 CDH7|CCDS11993.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDH7|CCDS11993.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 3 2 3 33 41 33 41 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748249877 19 5695635 G GA 300 PASS LONP1 CCDS12148.1 r.? - - Ins intronic I 5695635 5695645 1 6 267.085 - - 9 1 1 LONP1|CCDS12148.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LONP1|CCDS12148.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 5 0 7 1 49 48 50 48 7 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748250295 19 6411112 C CTG 900 PASS KHSRP CCDS45936.1 r.? - - Ins downstream I 6411112 6411130 2 70 794.031 - - 8 1 1 KHSRP|CCDS45936.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 KHSRP|CCDS45936.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 7 10 7 10 0 0 ./. 6 9 8 9 31 47 31 47 8 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748254001 19 12362882 C CA 300 PASS ZNF44 ENST00000393337 r.? - - Ins upstream I 12362882 12362884 1 12 261.667 - - 1 1 1 ZNF44|ENST00000393337|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ZNF44|ENST00000393337|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 2 6 9 40 43 41 43 6 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748258721 19 20041338 CTACTGCTAGACCGCGGTCTGCTAGGCAACGGGCGTCTTCCCAGACGCTGGCAT C 305 PASS ZNF90 CCDS32973.1 r.? - - Del intronic D 20041338 20041404 53 40 594.933 - - 1 1 1 ZNF90|CCDS32973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF90|CCDS32973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 2 8 2 0 0 ./. 7 4 0 0 19 22 26 26 7 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748259807 19 21722224 CT C 900 PASS ZNF429 CCDS42537.1 r.? - - Del downstream D 21722224 21722230 1 60 812.093 - - 5 1 1 ZNF429|CCDS42537.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF429|CCDS42537.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 12 11 12 0 0 ./. 11 4 14 5 41 30 41 30 14 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748262266 19 29246095 GC G 300 PASS - - - - - Del - D 29246095 29246101 1 12 270.698 - - 5 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 2 3 2 7 21 51 21 51 2 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748262935 19 30540083 AT A 300 PASS - - - - - Del - D 30540083 30540093 1 12 267.085 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 2 3 39 47 39 47 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748265611 19 36333573 G GA 300 PASS NPHS1 CCDS32996.1 r.? - - Ins intronic I 36333573 36333583 1 12 249.023 - - 9 1 1 NPHS1|CCDS32996.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NPHS1|CCDS32996.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 2 3 2 42 42 42 42 3 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748270608 19 45615556 A AGGCGTGGGATTACCTTCTGATACATTTCACCTGGAGTGCTGGGATGACG 261 PASS LRRC68 ENST00000421905 r.? - - Ins intronic I 45615556 45615591 49 28 220.543 - - 0 1 1 LRRC68|ENST00000421905|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRC68|ENST00000421905|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 3 0 0 57 38 58 40 6 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748271426 19 47015096 TTG T 269 PASS - - - - - Del - D 47015096 47015116 2 10 264.677 - - 9 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 4 1 5 45 55 45 55 1 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748272177 19 48261676 TG T 300 PASS GLTSCR2 CCDS12705.1 r.? - - Del downstream D 48261676 48261679 1 10 268.289 - - 2 1 1 GLTSCR2|CCDS12705.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 GLTSCR2|CCDS12705.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 6 5 6 0 0 ./. 1 4 2 5 28 41 28 41 2 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748275421 19 53907872 ATG A 269 PASS ZNF765 CCDS46171.1 r.? - - Del intronic D 53907872 53907892 2 6 268.289 - - 9 1 - ZNF765|CCDS46171.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF765|ENST00000340310|r.321_321+1delUg|c.?|p.?|protein_coding:five_prime_UTR:exon:extended_cis_splice_site:deletion:5_prime_UTR_variant:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:CGPX06:SO:0000159:SO:0001623:SO:0001577:SO:0001576 ./. 0 0 0 0 7 6 7 6 0 0 ./. 0 5 1 5 28 32 28 32 1 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748277595 19 57196377 G GAAGGAAGAAAGAAAAAGAAAGAGAAAGA 269 PASS - - - - - Ins - I 57196377 57196381 28 12 184.603 - - 0 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 0 0 38 39 38 39 3 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748280503 2 5395531 G GA 300 PASS - - - - - Ins - I 5395531 5395540 1 12 265.036 - - 8 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 3 5 45 38 46 38 3 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748285402 2 19139184 T TA 360 PASS - - - - - Ins - I 19139184 19139192 1 15 318.765 - - 7 1 1 - - ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 4 2 4 26 35 27 35 2 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748292248 2 36757177 A AT 300 PASS CRIM1 CCDS1783.1 r.? - - Ins intronic I 36757177 36757187 1 12 265.638 - - 9 1 1 CRIM1|CCDS1783.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CRIM1|CCDS1783.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 2 3 31 44 31 45 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748294838 2 42719229 G GA 329 PASS KCNG3 CCDS1809.1 r.? - - Ins intronic I 42719229 42719239 1 15 318.765 - - 9 1 1 KCNG3|CCDS1809.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNG3|CCDS1809.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 2 7 2 47 35 47 35 7 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748314171 2 98746156 CTG C 269 PASS VWA3B CCDS42718.1 r.? - - Del intronic D 98746156 98746172 2 6 268.648 - - 7 1 - VWA3B|CCDS42718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VWA3B|CCDS42718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 5 0 7 0 43 34 43 34 7 0 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748314825 2 100548765 CAAA C 469 PASS AFF3 CCDS42723.1 r.? - - Del intronic D 100548765 100548772 3 35 536.092 - - 6 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 15 7 15 0 0 ./. 6 4 7 4 43 39 43 39 7 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748315828 2 102974341 CGT C 300 PASS IL18R1 CCDS2060.1 r.? - - Del intronic D 102974341 102974358 2 12 268.648 - - 8 1 1 IL18R1|CCDS2060.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IL18R1|CCDS2060.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 3 2 4 4 30 48 30 48 4 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748316704 2 105960987 T TATAA 838 PASS C2orf49 CCDS2068.1 r.? - - Ins intronic I 105960987 105960994 4 70 769.82 - - 1 1 1 C2orf49|CCDS2068.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C2orf49|CCDS2068.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 15 9 0 0 ./. 6 9 9 13 37 40 37 40 9 13 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748319333 2 113604710 T TG 300 PASS - - - - - Ins - I 113604710 113604712 1 12 255.403 - - 1 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 2 3 2 44 32 45 32 3 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748323551 2 125722198 TTATCA T 567 PASS - - - - - Del - D 125722198 125722204 5 42 589.821 - - 1 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 6 9 11 26 32 26 32 9 11 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748333046 2 150745098 AT A 420 PASS - - - - - Del - D 150745098 150745108 1 14 376.107 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 6 1 6 1 39 40 39 40 6 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748338682 2 167059778 CTT C 1147 PASS SCN9A CCDS46441.1 r.? - - Del intronic D 167059778 167059781 2 117 1074.59 - - 2 1 1 SCN9A|CCDS46441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCN9A|CCDS46441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 4 10 4 0 0 ./. 8 12 16 17 27 30 27 30 16 17 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748348748 2 195036201 G GA 420 PASS - - - - - Ins - I 195036201 195036208 1 18 371.893 - - 6 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 5 3 8 36 44 36 44 3 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748349155 2 196270786 CA C 540 PASS - - - - - Del - D 196270786 196270790 1 28 483.566 - - 3 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 6 4 6 25 25 25 25 4 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748349747 2 197792564 TGC T 269 PASS PGAP1 CCDS2318.1 r.? - - Del upstream D 197792564 197792568 2 12 268.648 - - 1 1 1 PGAP1|CCDS2318.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PGAP1|CCDS2318.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 2 4 2 52 30 52 30 4 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748354503 2 209518799 A AT 420 PASS - - - - - Ins - I 209518799 209518805 1 20 371.893 - - 5 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 4 5 5 33 42 33 42 5 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748357767 2 218407270 AAG A 300 PASS - - - - - Del - D 218407270 218407290 2 12 263.229 - - 9 1 - - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 3 2 4 2 26 44 26 44 4 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748358785 2 221018775 AAG A 329 PASS - - - - - Del - D 221018775 221018779 2 7 298.295 - - 1 1 - - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 6 0 4 0 40 20 40 20 6 0 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748364115 2 234150165 AAAG A 267 PASS ATG16L1 ENST00000431917 r.? - - Del intronic D 234150165 234150181 3 7 298.295 - - 5 1 1 ATG16L1|ENST00000431917|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ATG16L1|ENST00000431917|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 0 6 2 0 33 20 33 20 2 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748367287 20 180390 GTC G 269 PASS - - - - - Del - D 180390 180410 2 10 261.616 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 4 1 4 1 37 27 38 27 5 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748370276 20 6971314 CAAG C 418 PASS - - - - - Del - D 6971314 6971322 3 21 433.999 - - 2 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 6 5 8 37 39 37 40 5 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748373853 20 17285129 AT A 480 PASS PCSK2 CCDS13125.1 r.? - - Del intronic D 17285129 17285134 1 21 433.999 - - 4 1 1 PCSK2|CCDS13125.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCSK2|CCDS13125.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 6 4 6 24 24 24 24 4 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748375584 20 22015428 CATCT C 600 PASS - - - - - Del - D 22015428 22015442 4 32 542.499 - - 3 1 - - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 7 6 11 44 51 44 51 6 12 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748379953 20 31438863 T TG 300 PASS MAPRE1 CCDS13208.1 r.? - - Ins downstream I 31438863 31438864 1 6 267.637 - - 0 1 1 MAPRE1|CCDS13208.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 MAPRE1|CCDS13208.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 10 14 10 0 0 ./. 0 5 2 7 48 45 48 46 2 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748382096 20 35528973 G GT 300 PASS SAMHD1 CCDS13288.1 r.? - - Ins intronic I 35528973 35528981 1 12 253.188 - - 7 1 1 SAMHD1|CCDS13288.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SAMHD1|CCDS13288.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 3 2 5 4 57 50 58 50 5 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748388176 20 49434976 CCT C 300 PASS BCAS4 CCDS33487.1 r.? - - Del intronic D 49434976 49434992 2 12 267.637 - - 7 1 - BCAS4|CCDS33487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCAS4|CCDS33487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 2 4 40 49 40 49 2 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748388590 20 50288342 AC A 420 PASS ATP9A CCDS33489.1 r.? - - Del intronic D 50288342 50288344 1 20 365.902 - - 1 1 1 ATP9A|CCDS33489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP9A|CCDS33489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 6 4 6 0 0 ./. 3 4 3 4 38 64 38 64 3 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748388778 20 50524603 GGGATATT G 319 PASS - - - - - Del - D 50524603 50524611 7 40 588.32 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 7 5 7 35 44 35 44 5 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748391247 20 55465310 TC T 300 PASS - - - - - Del - D 55465310 55465314 1 12 270.045 - - 3 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 2 3 4 3 31 36 31 36 4 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748391443 20 55896951 G GC 420 PASS - - - - - Ins - I 55896951 55896957 1 20 375.535 - - 5 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 3 5 5 47 57 47 58 5 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748391576 20 56342829 G GT 300 PASS - - - - - Ins - I 56342829 56342839 1 10 266.433 - - 9 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 1 4 4 4 42 48 42 48 4 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748391738 20 56849649 G GA 660 PASS PPP4R1L ENST00000244070 r.? - - Ins intronic I 56849649 56849655 1 42 590.126 - - 5 1 1 PPP4R1L|ENST00000244070|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPP4R1L|ENST00000244070|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 6 5 10 12 54 40 54 41 10 12 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748392378 20 58500957 TAAAACCTCACTAGTTTGTC T 435 PASS SYCP2 CCDS13482.1 r.? - - Del intronic D 58500957 58500987 19 60 813.748 - - 1 1 1 SYCP2|CCDS13482.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SYCP2|CCDS13482.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 4 11 4 8 41 50 41 53 4 11 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748394379 21 9473397 GA G 534 PASS - - - - - Del - D 9473397 9473401 1 30 479.635 - - 3 1 1 - - ./. 0 0 0 0 36 43 36 43 0 0 ./. 5 4 6 4 107 110 107 110 6 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748396833 21 10738189 G GT 320 PASS - - - - - Ins - I 10738189 10738196 1 54 698.023 - - 6 1 1 - - ./. 0 0 0 0 42 33 42 33 0 0 ./. 5 8 4 10 78 86 81 89 5 11 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748397503 21 11050657 A AG 1030 PASS - - - - - Ins - I 11050657 11050658 1 110 1015.37 - - 0 1 1 - - ./. 0 0 0 0 80 45 80 45 0 0 ./. 9 10 0 0 190 133 194 133 9 10 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748404482 21 27696880 GCC G 360 PASS - - - - - Del - D 27696880 27696884 2 15 325.777 - - 3 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 2 6 4 41 50 41 50 6 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748411209 21 42637321 TAATGA T 687 PASS BACE2 CCDS13668.1 r.? - - Del intronic D 42637321 42637328 5 54 705.85 - - 1 1 1 BACE2|CCDS13668.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BACE2|CCDS13668.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 8 5 9 8 38 30 38 30 9 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748413685 22 16664082 TA T 309 PASS - - - - - Del - D 16664082 16664091 1 12 599.101 - - 8 1 1 - - ./. 0 0 0 0 8 2 8 2 0 0 ./. 11 0 11 0 30 6 30 6 11 0 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748416321 22 21986826 GT G 420 PASS CCDC116 CCDS13791.1 r.? - - Del upstream D 21986826 21986828 1 20 378.838 - - 1 1 1 CCDC116|CCDS13791.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CCDC116|CCDS13791.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 3 8 4 43 33 43 33 8 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748418301 22 25509342 ATAGGAGACTTCTGCCACC A 348 PASS KIAA1671 CCDS46676.1 r.? - - Del intronic D 25509342 25509362 18 49 651.156 - - 1 1 1 KIAA1671|CCDS46676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1671|CCDS46676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 6 6 6 5 32 42 32 43 6 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748418322 22 25567686 TA T 300 PASS KIAA1671 CCDS46676.1 r.? - - Del intronic D 25567686 25567696 1 6 271.716 - - 9 1 1 KIAA1671|CCDS46676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA1671|CCDS46676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 11 4 11 0 0 ./. 0 5 2 6 24 41 24 41 2 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748424162 22 37664669 T TTG 260 PASS - - - - - Ins - I 37664669 37664670 2 15 293.067 - - 0 1 1 - - ./. 0 0 0 0 6 4 7 4 0 0 ./. 2 4 6 6 31 32 31 32 6 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748424596 22 38591538 TA T 267 PASS - - - - - Del - D 38591538 38591540 1 12 321.966 - - 1 1 - - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 1 5 0 0 26 52 26 52 1 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748429140 22 47769573 GT G 269 PASS - - - - - Del - D 47769573 47769575 1 6 265.696 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 5 0 4 0 29 32 30 32 5 0 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748435342 3 11765534 G GATTTT 660 PASS VGLL4 CCDS2606.1 r.? - - Ins upstream I 11765534 11765560 5 40 559.063 - - 5 1 - VGLL4|CCDS2606.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 VGLL4|CCDS2606.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 6 8 6 8 0 0 ./. 4 7 5 3 20 32 21 32 5 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748435476 3 12140078 AT A 300 PASS SYN2 ENST00000341648 r.? - - Del intronic D 12140078 12140080 1 6 267.967 - - 1 1 1 SYN2|ENST00000341648|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYN2|ENST00000341648|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 12 3 12 0 0 ./. 0 5 2 8 5 23 5 23 2 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748436367 3 14284932 A AT 420 PASS - - - - - Ins - I 14284932 14284940 1 20 372.625 - - 7 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 3 6 5 23 33 23 33 6 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748438755 3 21437404 CATAT C 360 PASS - - - - - Del - D 21437404 21437420 4 16 320.597 - - 7 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 3 4 3 33 29 33 29 4 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748444684 3 38411245 AGT A 660 PASS XYLB CCDS2678.1 r.? - - Del intronic D 38411245 38411252 2 36 585.554 - - 3 1 1 XYLB|CCDS2678.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XYLB|CCDS2678.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 8 5 10 32 39 32 39 5 10 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748444983 3 39444715 C CCA 300 PASS SNORA62 CCDS2686.1 r.? - - Ins upstream I 39444715 39444716 2 10 260.742 - - 0 1 - SNORA62|CCDS2686.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SNORA62|CCDS2686.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 7 10 7 11 0 0 ./. 1 4 0 2 35 32 35 33 1 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748447988 3 47534835 TG T 420 PASS C3orf75 CCDS43082.1 r.? - - Del downstream D 47534835 47534837 1 18 370.217 - - 1 1 1 C3orf75|CCDS43082.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C3orf75|CCDS43082.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 5 3 5 41 40 41 40 3 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748451316 3 55949958 C CA 420 PASS ERC2 CCDS46851.1 r.? - - Ins intronic I 55949958 55949966 1 18 371.421 - - 7 1 1 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ERC2|CCDS46851.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 2 7 5 39 28 40 28 7 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748463587 3 86526996 A AT 300 PASS - - - - - Ins - I 86526996 86527002 1 12 265.559 - - 5 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 3 4 39 35 39 35 3 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748467992 3 103780200 CCTTA C 1049 PASS - - - - - Del - D 103780200 103780208 4 96 968.414 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 7 11 10 12 43 42 43 42 10 12 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748478735 3 132939393 TA T 780 PASS TMEM108 CCDS33858.1 r.? - - Del intronic D 132939393 132939400 1 56 699.845 - - 6 1 1 TMEM108|CCDS33858.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TMEM108|CCDS33858.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 7 6 10 10 32 42 32 42 10 10 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748483967 3 148323748 G GA 300 PASS - - - - - Ins - I 148323748 148323755 1 6 264.355 - - 6 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 0 5 2 35 29 35 29 5 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748493174 3 174475466 A AT 300 PASS NAALADL2 ENST00000434257 r.? - - Ins intronic I 174475466 174475476 1 12 256.528 - - 9 1 1 NAALADL2|ENST00000434257|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 NAALADL2|ENST00000434257|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 2 3 4 4 42 38 42 38 4 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748495210 3 179948477 GTC G 360 PASS - - - - - Del - D 179948477 179948495 2 15 323.005 - - 8 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 2 4 2 32 42 32 42 4 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748496083 3 182787633 G GA 300 PASS MCCC1 CCDS3241.1 r.? - - Ins intronic I 182787633 182787643 1 12 264.957 - - 9 1 1 MCCC1|CCDS3241.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MCCC1|CCDS3241.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 2 3 36 23 37 23 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748496165 3 182996944 AAC A 300 PASS MCF2L2 CCDS3243.1 r.? - - Del intronic D 182996944 182996964 2 12 269.171 - - 9 1 - MCF2L2|CCDS3243.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCF2L2|CCDS3243.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 3 2 6 2 34 37 34 37 6 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748497345 3 185462174 C CA 360 PASS IGF2BP2 CCDS3273.2 r.? - - Ins intronic I 185462174 185462184 1 15 319.393 - - 9 1 1 IGF2BP2|CCDS3273.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IGF2BP2|CCDS3273.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 2 4 3 52 39 53 39 4 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748509420 4 17543401 TA T 300 PASS AC006160.2 ENST00000511740 r.? - - Del downstream D 17543401 17543403 1 12 268.303 - - 1 1 1 AC006160.2|ENST00000511740|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 AC006160.2|ENST00000511740|r.?|-|-|non_protein_coding:deletion:5KB_downstream_variant|SO:0000011:SO:0000159:SO:0001633 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 4 31 48 31 48 2 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748514602 4 31666358 TTA T 480 PASS - - - - - Del - D 31666358 31666362 2 16 430.248 - - 1 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 7 2 9 34 34 34 34 2 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748519775 4 43284637 TG T 420 PASS - - - - - Del - D 43284637 43284640 1 20 376.467 - - 2 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 3 7 4 42 26 42 26 7 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748526832 4 62466331 G GT 360 PASS LPHN3 ENST00000512091 r.? - - Ins intronic I 62466331 62466338 1 12 319.074 - - 6 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 1 6 1 34 25 34 25 6 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748527653 4 64751247 G GA 600 PASS - - - - - Ins - I 64751247 64751256 1 36 528.779 - - 8 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 5 8 7 29 39 29 40 8 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748529223 4 68778428 GT G 629 PASS TMPRSS11A CCDS3519.1 r.? - - Del intronic D 68778428 68778431 1 42 590.387 - - 2 1 1 TMPRSS11A|CCDS3519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMPRSS11A|CCDS3519.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 6 5 10 5 39 42 39 42 10 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748529982 4 70747045 GC G 420 PASS - - - - - Del - D 70747045 70747047 1 20 376.467 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 3 6 4 26 26 26 26 6 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748531332 4 74030176 C CT 360 PASS ANKRD17 CCDS34004.1 r.? - - Ins intronic I 74030176 74030185 1 15 319.074 - - 8 1 1 ANKRD17|CCDS34004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKRD17|CCDS34004.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 4 3 5 33 44 33 44 3 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748531494 4 74510911 A AT 360 PASS - - - - - Ins - I 74510911 74510921 1 15 314.859 - - 9 1 1 - - ./. 0 0 0 0 11 18 11 19 0 0 ./. 2 4 2 4 53 39 54 39 2 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748532864 4 77860360 G GGA 300 PASS - - - - - Ins - I 77860360 77860361 2 6 248.435 - - 0 1 - - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 0 5 2 0 41 30 43 30 2 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748540780 4 99774862 CA C 360 PASS - - - - - Del - D 99774862 99774867 1 12 322.686 - - 4 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 1 5 1 5 42 41 42 41 1 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748541664 4 102274917 G GA 997 PASS - - - - - Ins - I 102274917 102274926 1 84 892.001 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 11 12 15 51 46 51 46 12 15 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748543920 4 108892604 A AG 840 PASS - - - - - Ins - I 108892604 108892605 1 60 741.495 - - 0 1 - - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 9 5 16 6 34 27 35 28 16 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748545039 4 111619645 G GT 300 PASS - - - - - Ins - I 111619645 111619655 1 12 258.068 - - 9 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 3 3 3 46 36 46 37 3 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748545988 4 114490770 TA T 900 PASS CAMK2D CCDS3704.1 r.? - - Del intronic D 114490770 114490773 1 60 806.715 - - 2 1 1 CAMK2D|CCDS3704.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAMK2D|CCDS3704.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 11 4 14 6 44 26 44 26 14 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748553943 4 136138778 G GA 300 PASS - - - - - Ins - I 136138778 136138788 1 12 262.884 - - 9 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 2 3 2 3 34 41 35 41 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748554045 4 136452858 G GA 300 PASS - - - - - Ins - I 136452858 136452868 1 10 265.293 - - 9 1 - - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 4 1 5 36 35 36 35 1 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748555580 4 140287772 TA T 300 PASS NAA15 CCDS43270.1 r.? - - Del intronic D 140287772 140287776 1 10 262.282 - - 3 1 1 NAA15|CCDS43270.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAA15|CCDS43270.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 1 5 1 41 29 41 29 5 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748556769 4 143729842 CA C 360 PASS INPP4B CCDS47112.1 r.? - - Del intronic D 143729842 143729844 1 16 322.686 - - 1 1 1 INPP4B|CCDS47112.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 INPP4B|CCDS47112.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 3 3 3 4 27 45 27 45 3 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748563040 4 160820067 TC T 540 PASS - - - - - Del - D 160820067 160820070 1 28 482.825 - - 2 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 6 4 7 45 44 45 44 4 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748563190 4 161347633 AT A 300 PASS - - - - - Del - D 161347633 161347635 1 10 268.905 - - 1 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 1 4 1 30 19 30 19 4 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748564999 4 165706458 TAAA T 629 PASS - - - - - Del - D 165706458 165706464 3 42 590.989 - - 5 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 6 5 8 6 37 31 37 31 8 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748565963 4 167856117 AT A 300 PASS SPOCK3 CCDS34095.1 r.? - - Del intronic D 167856117 167856120 1 12 268.905 - - 2 1 1 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SPOCK3|CCDS34095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 9 7 42 25 42 25 9 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748570952 4 180491226 C CT 360 PASS - - - - - Ins - I 180491226 180491234 1 15 316.063 - - 7 1 1 - - ./. 0 0 0 0 14 7 14 10 0 0 ./. 2 4 3 4 41 33 41 45 3 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748571568 4 181743196 C CA 300 PASS - - - - - Ins - I 181743196 181743204 1 12 265.895 - - 7 1 - - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 3 2 6 3 44 41 44 41 6 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748576771 4 190845878 T TA 335 PASS - - - - - Ins - I 190845878 190845885 1 36 531.79 - - 6 1 1 - - ./. 0 0 0 0 28 24 28 24 0 0 ./. 5 5 6 5 107 79 108 80 6 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748580896 5 9265604 CG C 569 PASS SEMA5A CCDS3875.1 r.? - - Del intronic D 9265604 9265608 1 35 534.557 - - 3 1 1 SEMA5A|CCDS3875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEMA5A|ENST00000514923|r.53delC|c.53delC|p.R19fs*75|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 6 6 7 47 43 47 43 6 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748582724 5 13987807 C CA 897 PASS - - - - - Ins - I 13987807 13987814 1 84 891.227 - - 6 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 11 6 13 11 52 51 53 53 13 11 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748592308 5 36716041 G GGA 509 PASS - - - - - Ins - I 36716041 36716042 2 24 474.057 - - 0 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 7 2 0 0 49 27 49 27 7 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748595152 5 44263588 C CT 300 PASS - - - - - Ins - I 44263588 44263596 1 12 265.171 - - 7 1 1 - - ./. 0 0 0 0 9 6 9 6 0 0 ./. 2 3 3 3 33 44 33 45 3 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748600734 5 63895222 TGAG T 300 PASS RGS7BP CCDS34170.1 r.? - - Del intronic D 63895222 63895243 3 12 266.375 - - 6 1 - RGS7BP|CCDS34170.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS7BP|CCDS34170.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 3 2 41 23 41 23 3 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748603493 5 72603477 G GT 300 PASS - - - - - Ins - I 72603477 72603487 1 10 266.375 - - 9 1 1 - - ./. 0 0 0 0 15 9 16 9 0 0 ./. 4 1 4 1 36 39 39 39 4 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748604487 5 75409746 TAC T 300 PASS SV2C ENST00000502798 r.? - - Del intronic D 75409746 75409766 2 10 269.386 - - 9 1 - SV2C|ENST00000502798|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SV2C|ENST00000502798|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 4 2 5 39 33 39 33 2 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748606534 5 80107673 GT G 689 PASS MSH3 CCDS34195.1 r.? - - Del intronic D 80107673 80107678 1 45 646.526 - - 4 1 1 MSH3|CCDS34195.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSH3|CCDS34195.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 8 4 8 6 42 34 42 34 8 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748607248 5 82051775 ATACTC A 851 PASS - - - - - Del - D 82051775 82051781 5 84 913.503 - - 1 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 6 11 8 12 38 40 38 41 8 13 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748618350 5 116473768 CTA C 300 PASS - - - - - Del - D 116473768 116473782 2 12 268.182 - - 6 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 3 2 3 25 40 25 40 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748619878 5 120906457 G GT 300 PASS - - - - - Ins - I 120906457 120906464 1 12 264.569 - - 6 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 3 2 4 5 23 36 23 36 4 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748621285 5 125252354 G GA 1169 PASS - - - - - Ins - I 125252354 125252361 1 120 1065.5 - - 6 1 1 - - ./. 0 0 0 0 11 8 11 9 0 0 ./. 9 11 13 14 40 57 41 57 13 14 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748624452 5 134320191 CA C 600 PASS CATSPER3 CCDS4181.1 r.? - - Del intronic D 134320191 134320195 1 32 538.772 - - 3 1 1 CATSPER3|CCDS4181.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CATSPER3|CCDS4181.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 10 17 10 0 0 ./. 7 3 9 7 45 37 45 37 9 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748625714 5 137963717 AG A 300 PASS - - - - - Del - D 137963717 137963719 1 10 267.58 - - 1 1 1 - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 4 1 4 1 39 26 39 26 4 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748630191 5 150568172 AG A 300 PASS CCDC69 CCDS4312.1 r.? - - Del intronic D 150568172 150568174 1 6 258.549 - - 1 1 1 CCDC69|CCDS4312.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC69|CCDS4312.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 0 5 1 6 13 43 13 43 1 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748631624 5 154484371 C CA 540 PASS - - - - - Ins - I 154484371 154484373 1 30 479.476 - - 1 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 4 5 9 6 41 29 41 31 9 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748632032 5 155867026 TGA T 1020 PASS SGCD CCDS47325.1 r.? - - Del intronic D 155867026 155867029 2 90 914.106 - - 1 1 1 SGCD|CCDS47325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCD|CCDS47325.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 9 8 12 9 35 39 35 39 12 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748632276 5 156525431 A AC 300 PASS HAVCR2 CCDS4333.1 r.? - - Ins intronic I 156525431 156525432 1 10 266.375 - - 0 1 1 HAVCR2|CCDS4333.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HAVCR2|CCDS4333.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 10 3 10 0 0 ./. 1 4 1 6 28 38 30 38 1 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748633123 5 158528308 AG A 360 PASS EBF1 CCDS4343.1 r.? - - Del upstream D 158528308 158528312 1 16 323.263 - - 3 1 1 EBF1|CCDS4343.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 AC134043.1|ENST00000499583|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 3 4 3 35 33 35 33 4 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748633930 5 160718141 A AAT 300 PASS GABRB2 CCDS4355.1 r.4703_4704insau c.? p.? Ins 3'UTR variant I 160718141 160718155 2 12 263.365 - - 6 1 1 GABRB2|CCDS4355.1|r.4703_4704insau|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 GABRB2|CCDS4355.1|r.4703_4704insau|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 12 15 12 16 0 0 ./. 3 2 6 2 35 24 35 25 6 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748635529 5 165228374 TA T 623 PASS - - - - - Del - D 165228374 165228379 1 36 592.649 - - 4 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 8 7 8 35 24 35 24 7 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748639633 5 175924853 GA G 360 PASS FAF2 CCDS34296.1 r.? - - Del intronic D 175924853 175924859 1 16 323.263 - - 5 1 1 FAF2|CCDS34296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAF2|CCDS34296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 8 21 8 0 0 ./. 3 3 4 3 39 31 39 31 4 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748645339 6 8529302 TA T 300 PASS AL135912.1 ENST00000498984 r.? - - Del intronic D 8529302 8529312 1 12 268.245 - - 9 1 1 AL135912.1|ENST00000498984|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL135912.1|ENST00000498984|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 2 4 2 35 34 35 34 4 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748652233 6 25111718 G GT 360 PASS CMAH ENST00000436589 r.? - - Ins intronic I 25111718 25111725 1 15 319.727 - - 6 1 1 CMAH|ENST00000436589|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CMAH|ENST00000436589|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 4 4 5 27 28 27 29 4 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748660709 6 43448055 A AT 600 PASS TJAP1 CCDS4898.1 r.? - - Ins intronic I 43448055 43448063 1 32 532.878 - - 7 1 1 TJAP1|CCDS4898.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TJAP1|CCDS4898.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 7 5 9 31 37 32 39 5 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748661196 6 44564955 C CT 300 PASS - - - - - Ins - I 44564955 44564965 1 12 265.837 - - 9 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 2 3 36 36 36 36 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748663207 6 50718385 A AT 360 PASS TFAP2D CCDS4933.1 r.? - - Ins intronic I 50718385 50718392 1 16 319.727 - - 6 1 1 TFAP2D|CCDS4933.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TFAP2D|CCDS4933.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 13 13 0 0 ./. 3 3 3 4 25 42 26 42 3 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748665242 6 56536747 TGAG T 449 PASS DST CCDS47441.1 r.? - - Del intronic D 56536747 56536758 3 24 429.915 - - 3 1 1 DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DST|CCDS47441.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 5 3 6 4 36 43 36 43 6 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748666298 6 57516733 AC A 480 PASS PRIM2 ENST00000425433 r.? - - Del downstream D 57516733 57516735 1 25 431.119 - - 1 1 1 PRIM2|ENST00000425433|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PRIM2|ENST00000425433|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 33 27 33 27 0 0 ./. 4 4 6 8 92 94 92 94 6 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748666961 6 58760369 TAGA T 360 PASS - - - - - Del - D 58760369 58760378 3 15 323.339 - - 2 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 4 2 6 35 34 35 34 2 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748667715 6 63879922 TA T 360 PASS - - - - - Del - D 63879922 63879927 1 16 323.339 - - 4 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 3 3 7 19 26 19 26 3 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748680904 6 103013612 TC T 300 PASS - - - - - Del - D 103013612 103013616 1 10 265.837 - - 3 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 1 4 2 4 31 27 31 27 2 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748681149 6 103901893 A AT 420 PASS - - - - - Ins - I 103901893 103901901 1 14 373.014 - - 7 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 1 8 2 47 23 47 23 8 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748682755 6 108131051 CCT C 300 PASS SCML4 CCDS5060.2 r.? - - Del intronic D 108131051 108131068 2 12 267.643 - - 8 1 1 SCML4|CCDS5060.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SCML4|CCDS5060.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 3 2 3 33 43 33 43 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748706440 7 1357073 C CA 269 PASS - - - - - Ins - I 1357073 1357083 1 12 251.881 - - 9 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 3 2 0 1 30 22 30 22 3 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748710731 7 10255696 TAG T 360 PASS - - - - - Del - D 10255696 10255701 2 15 322.005 - - 2 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 4 4 4 29 45 29 45 4 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748711460 7 12031212 AT A 300 PASS - - - - - Del - D 12031212 12031216 1 10 269.341 - - 3 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 1 6 3 40 28 40 28 6 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748720340 7 33897732 GCA G 300 PASS - - - - - Del - D 33897732 33897749 2 12 269.341 - - 8 1 - - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 4 4 35 49 35 49 4 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748722441 7 39430967 C CT 300 PASS POU6F2 CCDS34620.2 r.? - - Ins intronic I 39430967 39430976 1 12 266.33 - - 8 1 1 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 3 2 5 42 29 42 29 2 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748727783 7 53113977 G GA 480 PASS - - - - - Ins - I 53113977 53113983 1 21 424.322 - - 5 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 6 2 6 29 43 29 44 2 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748728072 7 53911991 C CT 300 PASS - - - - - Ins - I 53911991 53912001 1 10 266.33 - - 9 1 1 - - ./. 0 0 0 0 18 6 18 6 0 0 ./. 4 1 4 1 51 37 51 37 4 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748728927 7 56045991 CTTTT C 420 PASS GBAS CCDS5521.1 r.? - - Del intronic D 56045991 56045999 4 18 377.077 - - 7 1 1 GBAS|CCDS5521.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GBAS|CCDS5521.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 2 6 2 32 37 32 37 6 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748734400 7 67258915 G GA 300 PASS - - - - - Ins - I 67258915 67258925 1 6 266.33 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 0 5 0 5 56 41 56 42 0 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748734559 7 67489051 C CA 360 PASS - - - - - Ins - I 67489051 67489061 1 15 317.79 - - 9 1 1 - - ./. 0 0 0 0 12 10 13 10 0 0 ./. 2 4 7 4 51 43 51 44 7 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748735080 7 68286108 ATC A 420 PASS - - - - - Del - D 68286108 68286117 2 20 377.077 - - 4 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 4 4 5 42 43 42 43 4 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748735791 7 69567517 TCA T 269 PASS AUTS2 CCDS5539.1 r.? - - Del intronic D 69567517 69567537 2 12 269.341 - - 9 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 2 4 2 40 23 40 23 4 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748737838 7 73398975 CTG C 300 PASS - - - - - Del - D 73398975 73398980 2 12 269.341 - - 2 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 3 2 39 35 39 35 3 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748742720 7 85642381 A AT 300 PASS - - - - - Ins - I 85642381 85642391 1 12 265.126 - - 9 1 1 - - ./. 0 0 0 0 10 6 11 6 0 0 ./. 2 3 3 3 48 41 48 41 3 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748746137 7 96008529 C CACACACAT 261 PASS - - - - - Ins - I 96008529 96008531 8 30 439.659 - - 0 1 - - - ./. 0 0 0 0 5 9 6 9 0 0 ./. 5 4 6 6 37 17 37 17 6 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748749986 7 104017288 C CA 629 PASS LHFPL3 ENST00000424859 r.? - - Ins intronic I 104017288 104017289 1 42 582.315 - - 0 1 1 LHFPL3|ENST00000424859|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LHFPL3|ENST00000424859|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 6 6 7 39 43 39 43 6 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748754605 7 117520569 AG A 420 PASS - - - - - Del - D 117520569 117520571 1 18 377.077 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 5 5 5 32 31 32 31 5 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748758973 7 129861706 A AG 300 PASS - - - - - Ins - I 129861706 129861707 1 12 259.106 - - 0 1 - - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 2 3 3 5 30 32 32 33 3 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748763941 7 142518460 GA G 420 PASS - - - - - Del - D 142518460 142518463 1 20 377.077 - - 2 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 3 9 4 31 33 31 33 9 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748766930 7 150478259 TG T 660 PASS - - - - - Del - D 150478259 150478262 1 36 588.937 - - 2 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 8 3 12 4 44 33 44 33 12 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748769595 7 156505925 TGA T 300 PASS LMBR1 CCDS5945.1 r.? - - Del intronic D 156505925 156505941 2 6 269.341 - - 7 1 1 LMBR1|CCDS5945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LMBR1|CCDS5945.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 0 5 0 5 39 34 39 34 0 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748774112 8 8798738 GTA G 416 PASS - - - - - Del - D 8798738 8798741 2 24 449.242 - - 1 1 1 - - ./. 0 0 0 0 3 12 3 12 0 0 ./. 7 2 7 5 26 21 28 21 9 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748781072 8 26115050 T TC 300 PASS ENSG00000228451 ENST00000434116 r.? - - Ins intronic I 26115050 26115051 1 10 261.821 - - 0 1 1 ENSG00000228451|ENST00000434116|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000228451|ENST00000434116|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 1 5 1 41 31 42 31 5 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748782723 8 30201374 AT A 300 PASS - - - - - Del - D 30201374 30201383 1 6 269.647 - - 8 1 - - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 0 1 1 27 20 27 20 6 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748785324 8 37499056 TAAAATAAAA T 336 PASS - - - - - Del - D 37499056 37499068 9 49 633.306 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 6 6 9 102 121 102 121 6 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748785410 8 37598790 TGA T 300 PASS ERLIN2 CCDS6095.1 r.? - - Del intronic D 37598790 37598809 2 12 269.647 - - 9 1 1 ERLIN2|CCDS6095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERLIN2|CCDS6095.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 2 3 6 4 93 124 93 124 6 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748786117 8 38192283 C CA 360 PASS WHSC1L1 CCDS43729.1 r.? - - Ins intronic I 38192283 38192287 1 7 312.138 - - 3 1 1 WHSC1L1|CCDS43729.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 WHSC1L1|CCDS43729.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 9 5 10 0 0 ./. 6 0 8 8 73 217 74 220 8 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748786555 8 38617546 CT C 600 PASS TACC1 ENST00000330691 r.? - - Del intronic D 38617546 38617554 1 35 538.693 - - 7 1 1 TACC1|ENST00000330691|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TACC1|ENST00000330691|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 16 4 16 0 0 ./. 6 4 8 4 101 124 101 124 8 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748786705 8 38813503 A AT 300 PASS PLEKHA2 ENST00000388745 r.? - - Ins intronic I 38813503 38813513 1 10 259.412 - - 9 1 1 PLEKHA2|ENST00000388745|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLEKHA2|ENST00000388745|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 1 4 5 4 85 84 85 86 5 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748787464 8 39953229 TC T 360 PASS - - - - - Del - D 39953229 39953231 1 7 323.577 - - 1 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 6 0 19 0 146 132 146 132 19 0 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748788402 8 41166116 TG T 929 PASS SFRP1 CCDS34886.1 r.? - - Del intronic D 41166116 41166120 1 80 852.034 - - 3 1 1 SFRP1|CCDS34886.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SFRP1|CCDS34886.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 9 7 11 10 162 180 162 180 11 10 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748791055 8 51400561 AG A 389 PASS SNTG1 CCDS6147.1 r.? - - Del intronic D 51400561 51400563 1 18 377.506 - - 1 1 1 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 5 3 5 31 32 31 32 3 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748800190 8 77238123 CAG C 540 PASS - - - - - Del - D 77238123 77238143 2 24 484.161 - - 9 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 2 7 2 8 37 38 37 38 2 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748801817 8 81646207 A AT 540 PASS ZNF704 CCDS34913.1 r.? - - Ins intronic I 81646207 81646216 1 30 479.345 - - 8 1 1 ZNF704|CCDS34913.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF704|CCDS34913.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 5 4 6 9 46 36 48 36 6 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748802609 8 83765940 AACC A 660 PASS - - - - - Del - D 83765940 83765944 3 30 589.612 - - 1 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 2 9 3 10 32 42 32 42 3 10 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748803717 8 87208151 GT G 420 PASS - - - - - Del - D 87208151 87208155 1 18 377.506 - - 3 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 5 2 5 2 30 36 30 36 5 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748804363 8 88717141 A AT 600 PASS - - - - - Ins - I 88717141 88717142 1 36 530.866 - - 0 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 5 7 6 41 48 42 48 7 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748809958 8 103741330 CCCCCTGCCCACAATCAAGTGCGATCTCCATGTCACAGCATTCAGGGGTCAAG C 300 PASS - - - - - Del - D 103741330 103741387 52 12 269.045 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 3 0 0 57 28 57 28 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748811999 8 109209168 G GA 480 PASS EIF3E CCDS6308.1 r.? - - Ins downstream I 109209168 109209174 1 21 426.619 - - 5 1 1 EIF3E|CCDS6308.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 EIF3E|CCDS6308.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 5 10 5 10 0 0 ./. 6 2 6 3 46 33 46 33 6 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748812040 8 109298702 AAG A 300 PASS - - - - - Del - D 109298702 109298719 2 10 269.647 - - 8 1 1 - - ./. 0 0 0 0 7 16 7 16 0 0 ./. 1 4 3 4 38 50 38 50 3 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748813382 8 113452398 AGTAAAT A 261 PASS CSMD3 CCDS6315.1 r.? - - Del intronic D 113452398 113452408 6 28 485.365 - - 1 1 1 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD3|CCDS6315.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 5 12 5 0 0 ./. 6 3 6 3 40 38 40 38 6 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748814585 8 116574576 CTTT C 480 PASS TRPS1 CCDS6318.2 r.? - - Del intronic D 116574576 116574583 3 24 431.436 - - 6 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 3 7 4 29 30 29 30 7 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748815326 8 118666630 AAATTATTTCATCTCTC A 435 PASS - - - - - Del - D 118666630 118666647 16 72 808.942 - - 1 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 7 8 8 8 29 30 29 30 8 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748818868 8 127470228 G GGT 329 PASS - - - - - Ins - I 127470228 127470230 2 7 307.923 - - 0 1 1 - - ./. 0 0 0 0 9 3 9 3 0 0 ./. 0 6 2 11 30 36 33 36 2 11 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748821325 8 134380527 T TA 300 PASS - - - - - Ins - I 134380527 134380535 1 12 264.831 - - 7 1 1 - - ./. 0 0 0 0 10 4 10 4 0 0 ./. 2 3 3 7 50 41 51 41 3 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748822013 8 136356849 T TAAATA 545 PASS - - - - - Ins - I 136356849 136356875 5 27 509.192 - - 5 1 - - - ./. 0 0 0 0 8 7 9 8 0 0 ./. 2 8 3 12 39 41 40 41 3 12 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748828462 9 8454966 C CT 600 PASS PTPRD CCDS43786.1 r.? - - Ins intronic I 8454966 8454968 1 32 534.387 - - 1 1 1 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 3 7 7 47 40 47 41 7 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748830562 9 13607158 A AT 300 PASS - - - - - Ins - I 13607158 13607167 1 12 265.989 - - 8 1 1 - - ./. 0 0 0 0 14 16 15 16 0 0 ./. 2 3 2 5 31 41 33 42 2 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748851960 9 89436764 A AT 300 PASS - - - - - Ins - I 89436764 89436772 1 12 267.193 - - 7 1 1 - - ./. 0 0 0 0 9 10 10 10 0 0 ./. 2 3 2 4 23 33 23 33 2 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748860005 9 113521904 G GA 420 PASS MUSK CCDS48005.1 r.? - - Ins intronic I 113521904 113521912 1 20 373.469 - - 7 1 1 MUSK|CCDS48005.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MUSK|CCDS48005.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 4 7 5 42 32 42 33 7 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748869211 9 137781427 CGT C 360 PASS FCN2 CCDS6983.1 r.? - - Del downstream D 137781427 137781443 2 15 324.244 - - 7 1 1 FCN2|CCDS6983.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FCN2|CCDS6983.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 2 4 2 36 17 36 17 4 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748873083 X 9794453 CT C 360 PASS SHROOM2 CCDS14135.1 r.? - - Del intronic D 9794453 9794463 1 16 317.648 - - 9 1 1 SHROOM2|CCDS14135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHROOM2|CCDS14135.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 3 3 3 3 55 46 55 46 3 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748875030 X 16301486 CATGTGGTCACATTTACAGTAATATCCAA C 522 PASS - - - - - Del - D 16301486 16301520 28 99 971.609 - - 1 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 8 10 3 9 34 25 39 26 8 10 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748881259 X 36332849 TGA T 269 PASS CXorf30 ENST00000378653 r.? - - Del intronic D 36332849 36332865 2 12 267.216 - - 7 1 - CXorf30|ENST00000378653|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CXorf30|ENST00000378653|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 4 3 41 33 41 33 4 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748881285 X 36596071 AAG A 300 PASS - - - - - Del - D 36596071 36596090 2 10 270.226 - - 9 1 - - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 1 4 2 5 33 40 33 40 2 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748884045 X 45444057 TAC T 360 PASS - - - - - Del - D 45444057 45444077 2 15 323.669 - - 9 1 - - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 4 2 5 2 41 41 41 41 5 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748884181 X 45962501 C CT 300 PASS - - - - - Ins - I 45962501 45962509 1 10 267.216 - - 7 1 1 - - ./. 0 0 0 0 11 15 11 17 0 0 ./. 4 1 4 1 37 37 38 37 4 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748885469 X 48994521 C CT 629 PASS - - - - - Ins - I 48994521 48994531 1 42 584.262 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 6 8 8 39 38 41 38 8 8 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748885885 X 50886475 C CA 300 PASS - - - - - Ins - I 50886475 50886482 1 10 267.216 - - 6 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 4 4 32 39 32 39 4 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748885937 X 51149512 AAC A 300 PASS CXorf67 ENST00000342995 r.? - - Del upstream D 51149512 51149532 2 6 266.012 - - 9 1 - CXorf67|ENST00000342995|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CXorf67|ENST00000342995|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 8 9 8 9 0 0 ./. 0 5 0 5 33 43 33 43 0 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748887067 X 55161299 G GA 420 PASS - - - - - Ins - I 55161299 55161308 1 20 373.5 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 4 3 5 33 50 33 52 3 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748887881 X 61722976 TA T 279 PASS - - - - - Del - D 61722976 61722978 1 19 972.813 - - 1 1 1 - - ./. 0 0 0 0 30 21 30 21 0 0 ./. 18 0 0 1 85 61 103 61 18 1 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748887975 X 62045218 TA T 624 PASS - - - - - Del - D 62045218 62045228 1 40 593.293 - - 9 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 7 5 11 42 44 42 44 5 11 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748891699 X 76626623 C CT 740 PASS - - - - - Ins - I 76626623 76626630 1 63 748.204 - - 6 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 8 6 9 39 39 41 40 6 9 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748891765 X 76924425 CAGGAA C 358 PASS ATRX CCDS14434.1 r.? - - Del intronic D 76924425 76924438 5 20 378.316 - - 2 1 1 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 3 4 5 34 41 34 41 4 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748892550 X 79378714 C CT 360 PASS - - - - - Ins - I 79378714 79378721 1 16 320.659 - - 6 1 1 - - ./. 0 0 0 0 13 9 13 10 0 0 ./. 3 3 5 7 31 43 31 43 5 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748892777 X 80219685 G GT 286 PASS - - - - - Ins - I 80219685 80219692 1 12 267.216 - - 6 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 2 3 6 4 36 33 36 34 6 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748893186 X 81587575 A AT 360 PASS - - - - - Ins - I 81587575 81587584 1 16 320.057 - - 8 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 3 5 3 27 26 27 27 5 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748893347 X 82202422 G GA 360 PASS - - - - - Ins - I 82202422 82202426 1 15 320.659 - - 3 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 2 4 6 6 31 37 31 37 6 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748893740 X 83724366 GT G 420 PASS HDX CCDS35342.1 r.476delA c.364delA p.T122fs*38 Del frameshift D 83724366 83724369 1 20 377.112 - - 2 1 1 HDX|CCDS35342.1|r.476delA|c.364delA|p.T122fs*38|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 HDX|CCDS35342.1|r.476delA|c.364delA|p.T122fs*38|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 4 3 7 36 41 36 41 3 7 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748895699 X 90042167 T TTTC 263 PASS - - - - - Ins - I 90042167 90042173 3 15 313.434 - - 1 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 2 5 2 20 28 20 28 5 2 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748900939 X 108781360 GGTGA G 689 PASS NXT2 CCDS14546.1 r.369+1_369+4delguga c.267+1_267+4delgtga p.? Del ess splice D 108781360 108781368 4 40 648.542 - - 1 1 1 NXT2|CCDS14546.1|r.369+1_369+4delguga|c.267+1_267+4delgtga|p.?|protein_coding:CDS:extended_cis_splice_site:deletion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000159:SO:CGPX03:SO:0001576 NXT2|CCDS14546.1|r.369+1_369+4delguga|c.267+1_267+4delgtga|p.?|protein_coding:CDS:extended_cis_splice_site:deletion:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX06:SO:0000159:SO:CGPX03:SO:0001576 ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 9 4 12 43 36 43 36 4 12 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748901279 X 110004033 A AT 360 PASS CHRDL1 CCDS48149.1 r.? - - Ins intronic I 110004033 110004042 1 15 320.659 - - 8 1 1 CHRDL1|CCDS48149.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHRDL1|CCDS48149.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 4 3 4 38 43 39 44 3 4 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748901667 X 111637956 T TA 660 PASS - - - - - Ins - I 111637956 111637958 1 42 584.864 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 13 0 0 ./. 6 5 7 5 33 27 33 28 7 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748903026 X 115666413 C CA 300 PASS - - - - - Ins - I 115666413 115666420 1 12 267.216 - - 6 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 2 3 3 28 27 28 27 3 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748906614 X 126344269 G GA 360 PASS - - - - - Ins - I 126344269 126344275 1 12 320.659 - - 5 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 5 1 5 31 33 31 33 1 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748907168 X 128456904 C CA 600 PASS - - - - - Ins - I 128456904 128456910 1 36 533.227 - - 5 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 5 9 6 42 42 44 42 9 6 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748909419 X 135903236 CT C 840 PASS - - - - - Del - D 135903236 135903241 1 63 755.429 - - 4 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 6 8 7 13 40 37 40 37 7 13 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748909637 X 136533000 CAG C 300 PASS - - - - - Del - D 136533000 136533018 2 12 269.624 - - 8 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 2 3 2 3 39 27 39 27 2 3 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748910615 X 139747591 G GA 360 PASS - - - - - Ins - I 139747591 139747599 1 15 320.659 - - 7 1 1 - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 4 3 5 41 43 41 43 3 5 1 1 1 1 1 1 1 1 2731396 PD14443a PD14443b 2748911697 X 143306046 A AT 360 PASS - - - - - Ins - I 143306046 143306054 1 15 320.659 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 4 5 4 44 22 44 22 5 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745742027 1 10441112 G GA 660 PASS KIF1B CCDS111.1 r.? - - Ins downstream I 10441112 10441116 1 42 584.461 - - 3 1 1 KIF1B|CCDS111.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 KIF1B|ENST00000377081|r.8203_8204insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 5 8 7 33 28 35 28 8 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745745526 1 19017970 GTTGT G 809 PASS PAX7 CCDS44074.1 r.? - - Del intronic D 19017970 19017989 4 60 752.288 - - 4 1 1 PAX7|CCDS44074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAX7|CCDS44074.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 9 6 11 27 36 27 36 6 11 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745746789 1 22153700 T TA 300 PASS LDLRAD2 CCDS30624.1 r.? - - Ins downstream I 22153700 22153710 1 12 265.664 - - 9 1 1 LDLRAD2|CCDS30624.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 HSPG2|ENST00000374695|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 2 3 2 3 32 41 32 41 2 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745749244 1 28274439 TA T 720 PASS SMPDL3B CCDS30655.1 r.? - - Del intronic D 28274439 28274445 1 48 640.002 - - 5 1 1 SMPDL3B|CCDS30655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMPDL3B|CCDS30655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 7 5 9 7 34 16 34 16 9 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745751904 1 36093249 CA C 300 PASS PSMB2 CCDS394.1 r.? - - Del intronic D 36093249 36093259 1 12 268.674 - - 9 1 1 PSMB2|CCDS394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSMB2|CCDS394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 18 6 18 0 0 ./. 3 2 4 2 24 33 24 33 4 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745753239 1 39617933 CTG C 360 PASS MACF1 CCDS435.1 r.? - - Del intronic D 39617933 39617938 2 16 322.409 - - 2 1 1 MACF1|CCDS435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MACF1|CCDS435.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 3 3 4 16 12 16 12 3 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745759971 1 60520241 C CA 269 PASS C1orf87 CCDS614.1 r.? - - Ins intronic I 60520241 60520244 1 10 264.46 - - 2 1 1 C1orf87|CCDS614.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C1orf87|CCDS614.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 1 4 3 5 19 23 19 23 3 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745766705 1 80965198 CTATGA C 385 PASS - - - - - Del - D 80965198 80965207 5 28 483.614 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 6 3 7 3 26 19 26 20 7 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745784779 1 150883885 G GT 300 PASS - - - - - Ins - I 150883885 150883895 1 12 254.827 - - 9 1 1 - - ./. 0 0 0 0 15 19 15 19 0 0 ./. 3 2 3 3 49 56 49 56 3 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745790101 1 164212065 G GA 300 PASS - - - - - Ins - I 164212065 164212075 1 12 252.419 - - 9 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 3 3 4 46 38 46 39 3 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745793525 1 173450428 CTT C 360 PASS PRDX6 CCDS1307.1 r.? - - Del intronic D 173450428 173450431 2 15 322.409 - - 2 1 1 PRDX6|CCDS1307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRDX6|CCDS1307.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 19 14 19 0 0 ./. 2 4 2 4 29 31 29 31 2 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745794140 1 175341940 TCCCTGAGATCATCTC T 551 PASS TNR CCDS1318.1 r.? - - Del intronic D 175341940 175341958 15 110 1019.76 - - 1 1 1 TNR|CCDS1318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNR|CCDS1318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 10 9 10 8 29 25 29 26 10 9 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745810560 1 218684893 A AG 300 PASS C1orf143 ENST00000443836 r.? - - Ins intronic I 218684893 218684894 1 10 262.654 - - 0 1 - C1orf143|ENST00000443836|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C1orf143|ENST00000443836|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 8 12 0 0 ./. 4 1 8 6 29 19 30 20 8 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745827946 10 9799447 T TAAGAG 627 PASS - - - - - Ins - I 9799447 9799449 5 48 608.568 - - 0 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 7 5 8 6 22 26 22 27 8 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745836011 10 30649888 CT C 569 PASS MTPAP ENST00000358107 r.? - - Del intronic D 30649888 30649896 1 36 539.752 - - 7 1 1 MTPAP|ENST00000358107|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTPAP|ENST00000358107|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 5 5 6 11 33 28 33 28 6 11 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745837505 10 34681521 A AT 660 PASS PARD3 CCDS7178.1 r.? - - Ins intronic I 34681521 34681527 1 36 586.502 - - 5 1 1 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARD3|CCDS7178.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 8 5 11 17 37 18 37 5 11 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745842453 10 51008455 CT C 540 PASS - - - - - Del - D 51008455 51008465 1 24 482.766 - - 9 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 7 2 9 2 21 26 21 26 9 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745863272 10 118369259 C CG 420 PASS PNLIPRP1 CCDS7595.1 r.? - - Ins downstream I 118369259 118369264 1 20 365.785 - - 4 1 1 PNLIPRP1|CCDS7595.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 PNLIPRP1|CCDS7595.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 3 7 3 7 0 0 ./. 4 3 0 1 15 23 15 23 4 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745875249 11 17002314 C CA 360 PASS PLEKHA7 CCDS31434.1 r.? - - Ins intronic I 17002314 17002322 1 12 317.038 - - 7 1 1 PLEKHA7|CCDS31434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLEKHA7|CCDS31434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 5 2 6 30 29 30 29 2 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745887070 11 50146238 ACTGT A 280 PASS - - - - - Del - D 50146238 50146243 4 15 324.263 - - 1 1 1 - - ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 4 3 10 19 24 19 24 3 10 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745887364 11 54994726 CTCAGAATGCTTCTGTCTAGTTTTCA C 261 PASS - - - - - Del - D 54994726 54994753 25 24 486.395 - - 1 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 7 2 6 20 38 21 39 3 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745889140 11 61103525 C CA 360 PASS DDB1 CCDS31576.1 r.? - - Ins upstream I 61103525 61103529 1 15 319.447 - - 3 1 1 DDB1|CCDS31576.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 DAK|CCDS8003.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 2 4 6 25 25 25 25 4 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745903139 11 101579323 T TG 420 PASS - - - - - Ins - I 101579323 101579332 1 20 373.49 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 17 0 0 ./. 4 3 4 4 26 27 26 27 4 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745904281 11 104728982 CAG C 300 PASS - - - - - Del - D 104728982 104729000 2 10 270.219 - - 8 1 - - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 1 4 1 27 18 27 18 4 1 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745915170 12 2895374 A AG 480 PASS - - - - - Ins - I 2895374 2895379 1 21 417.339 - - 4 1 1 - - ./. 0 0 0 0 5 5 5 5 0 0 ./. 6 2 9 3 26 15 26 15 9 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745920784 12 17332594 T TA 267 PASS - - - - - Ins - I 17332594 17332604 1 15 320.681 - - 9 1 1 - - ./. 0 0 0 0 10 7 10 8 0 0 ./. 2 4 5 6 38 36 38 36 5 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745920908 12 17767229 T TA 720 PASS - - - - - Ins - I 17767229 17767237 1 40 640.759 - - 7 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 9 6 11 26 37 27 37 6 11 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745926887 12 33648854 TA T 728 PASS - - - - - Del - D 33648854 33648861 1 56 702.032 - - 6 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 7 6 12 8 31 30 31 30 12 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745934784 12 59675158 C CA 360 PASS - - - - - Ins - I 59675158 59675164 1 15 320.681 - - 5 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 4 2 5 27 22 27 22 2 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745947537 12 99458079 AT A 420 PASS ANKS1B ENST00000329257 r.? - - Del intronic D 99458079 99458081 1 14 375.933 - - 1 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 6 1 8 2 24 24 24 24 8 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745958051 12 127469138 ATT A 660 PASS AC078878.2 ENST00000512624 r.? - - Del intronic D 127469138 127469143 2 42 593.935 - - 4 1 1 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC078878.2|ENST00000512624|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 5 6 6 10 16 32 16 32 6 10 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745959155 12 130027662 A AGATG 449 PASS TMEM132D CCDS9266.1 r.? - - Ins intronic I 130027662 130027685 4 24 399.879 - - 5 1 - TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 5 3 5 4 29 22 30 22 5 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745970514 13 43906098 TA T 360 PASS ENOX1 CCDS9389.1 r.? - - Del intronic D 43906098 43906101 1 12 325.1 - - 2 1 1 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 1 5 4 6 20 30 20 30 4 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745982046 13 77016548 T TA 300 PASS - - - - - Ins - I 77016548 77016557 1 10 267.906 - - 8 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 1 4 4 6 31 29 31 29 4 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745990633 13 103597741 A AT 960 PASS - - - - - Ins - I 103597741 103597749 1 77 856.698 - - 7 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 10 6 12 7 32 31 32 31 12 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2745997310 14 26774563 T TA 960 PASS - - - - - Ins - I 26774563 26774565 1 77 854.568 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 6 10 9 13 27 32 27 32 9 13 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746010071 14 65013531 TA T 300 PASS HSPA2 CCDS9766.1 r.? - - Del downstream D 65013531 65013533 1 6 271.192 - - 1 1 1 HSPA2|CCDS9766.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C14orf50|CCDS9767.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 8 7 8 0 0 ./. 0 5 1 5 27 35 27 35 1 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746011638 14 70496178 AG A 840 PASS SMOC1 CCDS32110.1 r.? - - Del intronic D 70496178 70496182 1 64 758.735 - - 3 1 1 SMOC1|CCDS32110.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMOC1|CCDS32110.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 7 7 8 7 16 31 16 31 8 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746014029 14 76599283 TGA T 300 PASS - - - - - Del - D 76599283 76599297 2 12 271.192 - - 6 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 3 2 32 33 32 33 3 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746020020 14 93953021 A AG 329 PASS KIAA1409 CCDS9911.2 r.? - - Ins intronic I 93953021 93953022 1 12 313.389 - - 0 1 - KIAA1409|CCDS9911.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KIAA1409|CCDS9911.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 5 1 5 3 25 14 28 14 5 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746023014 14 103306741 A AT 420 PASS TRAF3 CCDS9975.1 r.? - - Ins intronic I 103306741 103306751 1 18 371.24 - - 9 1 1 TRAF3|CCDS9975.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TRAF3|CCDS9975.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 2 7 2 26 25 27 25 7 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746028135 15 28978830 C CA 259 PASS WHAMML2 ENST00000512149 r.? - - Ins upstream I 28978830 28978839 1 18 374.999 - - 8 1 1 WHAMML2|ENST00000512149|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 WHAMML2|ENST00000512149|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 5 3 9 23 38 23 39 3 9 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746039277 15 60763994 A AC 360 PASS NARG2 CCDS10176.1 r.? - - Ins intronic I 60763994 60763996 1 12 316.525 - - 1 1 1 NARG2|CCDS10176.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NARG2|CCDS10176.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 6 12 9 0 0 ./. 1 5 1 5 21 29 22 29 1 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746043274 15 71529568 AG A 600 PASS THSD4 CCDS10238.2 r.? - - Del intronic D 71529568 71529570 1 35 541.991 - - 1 1 1 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THSD4|CCDS10238.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 4 6 5 20 18 20 18 6 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746046891 15 82495627 TTACTG T 445 PASS EFTUD1 CCDS42071.1 r.? - - Del intronic D 82495627 82495634 5 32 542.594 - - 1 1 1 EFTUD1|CCDS42071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EFTUD1|CCDS42071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 3 7 3 7 15 25 15 25 3 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746051298 15 96116088 C CA 720 PASS - - - - - Ins - I 96116088 96116098 1 48 642.081 - - 9 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 7 5 8 6 32 23 32 23 8 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746051942 15 97956271 GT G 449 PASS - - - - - Del - D 97956271 97956275 1 24 434.075 - - 3 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 5 5 8 25 28 25 28 5 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746054908 16 3916137 TAGAAA T 300 PASS CREBBP CCDS10509.1 r.? - - Del intronic D 3916137 3916150 5 12 271.158 - - 2 1 1 CREBBP|CCDS10509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CREBBP|CCDS10509.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 2 3 3 4 24 29 24 29 3 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746062623 16 23011936 C CA 480 PASS - - - - - Ins - I 23011936 23011944 1 24 427.23 - - 7 1 1 - - ./. 0 0 0 0 6 11 6 12 0 0 ./. 5 3 6 5 27 33 27 33 6 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746064081 16 26430809 G GA 720 PASS - - - - - Ins - I 26430809 26430816 1 48 637.533 - - 6 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 7 7 8 40 21 40 21 7 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746081008 16 86712455 G GGTATATACCCA 272 PASS - - - - - Ins - I 86712455 86712459 11 9 376.055 - - 0 1 1 - - ./. 0 0 0 0 8 5 9 5 0 0 ./. 8 0 3 0 10 10 15 10 8 0 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746093053 17 34018634 AAT A 300 PASS AP2B1 CCDS32621.1 r.? - - Del intronic D 34018634 34018637 2 10 271.422 - - 1 1 1 AP2B1|CCDS32621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AP2B1|CCDS32621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 4 1 7 4 19 15 19 15 7 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746112948 18 11671894 A AT 300 PASS - - - - - Ins - I 11671894 11671896 1 12 268.293 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 3 5 5 19 27 19 28 5 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746115689 18 21382176 G GA 360 PASS LAMA3 CCDS42419.1 r.? - - Ins intronic I 21382176 21382183 1 16 321.952 - - 6 1 1 LAMA3|CCDS42419.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LAMA3|CCDS42419.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 3 3 4 7 34 25 34 25 4 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746116564 18 24202148 G GA 360 PASS KCTD1 CCDS11888.1 r.? - - Ins intronic I 24202148 24202158 1 12 321.35 - - 9 1 1 KCTD1|CCDS11888.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KCTD1|CCDS11888.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 5 1 8 2 26 19 26 19 8 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746117991 18 29211604 TAA T 420 PASS B4GALT6 CCDS11900.1 r.? - - Del intronic D 29211604 29211607 2 14 379.825 - - 2 1 1 B4GALT6|CCDS11900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 B4GALT6|CCDS11900.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 6 1 7 2 23 12 23 12 7 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746121916 18 42574107 T TA 480 PASS SETBP1 CCDS11923.2 r.? - - Ins intronic I 42574107 42574111 1 24 429.269 - - 3 1 1 SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SETBP1|CCDS11923.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 5 4 8 20 21 20 22 4 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746128955 18 62549271 ATCTATCTATCTATCTG A 296 PASS - - - - - Del - D 62549271 62549291 16 14 379.825 - - 1 1 - - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 6 1 3 0 26 19 26 20 6 1 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746135540 19 3109046 TC T 900 PASS GNA11 CCDS12103.1 r.? - - Del intronic D 3109046 3109049 1 60 813.713 - - 2 1 1 GNA11|CCDS12103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GNA11|CCDS12103.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 11 7 13 24 34 24 34 7 13 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746140528 19 13126250 ACTCT A 420 PASS NFIX CCDS45996.1 r.? - - Del intronic D 13126250 13126259 4 18 376.723 - - 4 1 1 NFIX|CCDS45996.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NFIX|CCDS45996.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 5 4 6 21 20 21 20 4 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746144857 19 22238743 GCTA G 443 PASS ZNF257 CCDS46030.1 r.? - - Del intronic D 22238743 22238749 3 30 488.228 - - 1 1 1 ZNF257|CCDS46030.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF257|CCDS46030.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 6 5 6 0 0 ./. 4 5 8 7 28 19 28 19 8 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746173565 2 43549813 CTTTTTTTTTTTTTTT C 290 PASS THADA CCDS46268.1 r.? - - Del intronic D 43549813 43549843 15 36 516.993 - - 1 1 - THADA|CCDS46268.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 THADA|CCDS46268.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 5 5 5 5 9 16 10 16 6 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746180569 2 68973842 T TCC 360 PASS ARHGAP25 CCDS33214.1 r.? - - Ins intronic I 68973842 68973847 2 12 314.169 - - 4 1 1 ARHGAP25|CCDS33214.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP25|CCDS33214.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 11 3 11 0 0 ./. 1 5 0 1 20 23 20 23 1 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746188814 2 100636698 T TG 660 PASS AFF3 CCDS42723.1 r.? - - Ins intronic I 100636698 100636701 1 40 581.696 - - 2 1 1 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AFF3|CCDS42723.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 12 0 0 ./. 7 4 9 5 21 13 21 13 9 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746189592 2 103221240 CTG C 720 PASS - - - - - Del - D 103221240 103221245 2 33 646.4 - - 2 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 10 4 11 16 20 16 20 4 11 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746198263 2 133101616 C CTT 598 PASS - - - - - Ins - I 133101616 133101617 2 30 579.288 - - 0 1 1 - - ./. 0 0 0 0 14 11 15 11 0 0 ./. 2 9 0 0 29 50 29 50 2 9 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746211269 2 178681917 T TTA 480 PASS PDE11A CCDS42786.1 r.? - - Ins intronic I 178681917 178681920 2 24 421.301 - - 1 1 1 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE11A|CCDS42786.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 5 3 7 3 30 16 30 16 7 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746216039 2 196786342 TAA T 300 PASS DNAH7 CCDS42794.1 r.? - - Del intronic D 196786342 196786347 2 10 269.333 - - 4 1 1 DNAH7|CCDS42794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAH7|CCDS42794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 1 4 3 4 29 13 29 13 3 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746230696 20 483042 G GA 540 PASS CSNK2A1P CCDS13003.1 r.? - - Ins intronic I 483042 483052 1 30 481.447 - - 9 1 1 CSNK2A1P|CCDS13003.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CSNK2A1P|CCDS13003.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 5 8 7 24 33 24 33 8 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746239114 20 25881765 GT G 300 PASS - - - - - Del - D 25881765 25881773 1 7 326.183 - - 7 1 1 - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 6 0 6 2 43 50 44 50 7 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746281455 3 979384 AT A 540 PASS - - - - - Del - D 979384 979393 1 28 484.884 - - 8 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 6 3 8 3 22 14 22 14 8 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746281649 3 1494389 GA G 360 PASS - - - - - Del - D 1494389 1494396 1 16 323.256 - - 6 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 3 3 4 6 25 22 25 22 4 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746284459 3 9026777 A AAT 300 PASS SRGAP3 CCDS2572.1 r.3827_3828insau c.? p.? Ins 3'UTR variant I 9026777 9026793 2 12 262.757 - - 7 1 - SRGAP3|CCDS2572.1|r.3827_3828insau|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 SRGAP3|CCDS2572.1|r.3827_3828insau|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 19 11 19 11 0 0 ./. 3 2 5 6 30 24 30 24 5 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746290845 3 29006394 C CT 480 PASS - - - - - Ins - I 29006394 29006403 1 21 425.589 - - 8 1 1 - - ./. 0 0 0 0 11 10 12 10 0 0 ./. 6 2 6 5 21 30 21 30 6 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746296599 3 47462542 T TG 658 PASS SCAP CCDS2755.2 r.? - - Ins intronic I 47462542 47462550 1 49 634.471 - - 7 1 1 SCAP|CCDS2755.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCAP|CCDS2755.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 6 6 7 7 28 36 28 37 7 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746302275 3 63689869 TAA T 360 PASS - - - - - Del - D 63689869 63689872 2 12 322.052 - - 2 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 5 3 6 39 28 39 28 3 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746311855 3 94544593 TGAAA T 540 PASS - - - - - Del - D 94544593 94544599 4 28 484.884 - - 1 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 6 3 6 7 24 31 24 31 6 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746314517 3 103379573 GT G 420 PASS - - - - - Del - D 103379573 103379576 1 18 376.53 - - 2 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 2 5 2 8 25 25 25 25 2 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746320740 3 121508618 CAAG C 838 PASS IQCB1 CCDS33837.1 r.? - - Del intronic D 121508618 121508625 3 70 806.334 - - 2 1 1 IQCB1|CCDS33837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IQCB1|CCDS33837.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 9 6 10 10 34 34 34 34 10 10 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746323938 3 130101174 A AG 540 PASS COL29A1 ENST00000312481 r.? - - Ins intronic I 130101174 130101177 1 28 479.465 - - 2 1 1 COL29A1|ENST00000312481|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL29A1|ENST00000312481|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 6 4 9 33 32 33 33 4 9 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746326383 3 137648191 TA T 540 PASS - - - - - Del - D 137648191 137648200 1 28 484.884 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 3 7 5 22 31 22 31 7 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746327232 3 140286630 T TA 540 PASS CLSTN2 CCDS3112.1 r.4593_4594insa c.? p.? Ins 3'UTR variant I 140286630 140286640 1 30 479.465 - - 9 1 1 CLSTN2|CCDS3112.1|r.4593_4594insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 CLSTN2|CCDS3112.1|r.4593_4594insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 5 6 6 37 40 37 40 6 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746335234 3 164031171 CA C 300 PASS - - - - - Del - D 164031171 164031175 1 12 268.176 - - 3 1 - - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 2 4 2 39 36 39 36 4 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746335856 3 165786726 AAG A 269 PASS - - - - - Del - D 165786726 165786738 2 12 253.726 - - 5 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 2 4 5 16 29 16 29 4 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746338011 3 171833856 TAA T 660 PASS FNDC3B CCDS3217.1 r.? - - Del intronic D 171833856 171833859 2 40 592.636 - - 2 1 1 FNDC3B|CCDS3217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FNDC3B|CCDS3217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 7 4 10 6 38 33 38 33 10 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746338219 3 172330409 AT A 546 PASS - - - - - Del - D 172330409 172330419 1 32 538.76 - - 9 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 3 7 6 12 24 29 24 29 6 12 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746347642 3 196501701 C CA 900 PASS PAK2 CCDS3321.1 r.? - - Ins intronic I 196501701 196501709 1 72 796.701 - - 7 1 1 PAK2|CCDS3321.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PAK2|CCDS3321.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 8 7 11 11 40 46 40 46 11 11 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746366061 4 62092927 C CT 329 PASS LPHN3 ENST00000512091 r.? - - Ins intronic I 62092927 62092937 1 15 319.037 - - 9 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 2 4 4 16 23 16 23 4 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746366069 4 62114883 CAGTGA C 536 PASS LPHN3 ENST00000512091 r.? - - Del intronic D 62114883 62114893 5 36 590.721 - - 1 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 8 4 8 16 20 16 20 4 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746376090 4 97911185 AT A 629 PASS - - - - - Del - D 97911185 97911189 1 36 589.517 - - 3 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 8 4 10 14 19 14 19 4 10 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746387344 4 139966042 C CCTTATT 261 PASS CCRN4L CCDS3743.1 r.903_904inscuuauu c.710_711insCTTATT p.F239_F240insLF Ins inframe I 139966042 139966049 6 30 451.463 - - 1 1 1 CCRN4L|CCDS3743.1|r.903_904inscuuauu|c.710_711insCTTATT|p.F239_F240insLF|protein_coding:CDS:exon:insertion:inframe_variant:inframe_codon_gain|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001650:SO:0001651 CCRN4L|CCDS3743.1|r.903_904inscuuauu|c.710_711insCTTATT|p.F239_F240insLF|protein_coding:CDS:exon:insertion:inframe_variant:inframe_codon_gain|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001650:SO:0001651 ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 5 4 4 21 19 21 20 4 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746392219 4 159206787 GATAAC G 505 PASS - - - - - Del - D 159206787 159206794 5 36 593.129 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 8 3 10 4 20 13 20 13 10 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746417688 5 39254882 CAAG C 420 PASS FYB ENST00000512982 r.? - - Del intronic D 39254882 39254887 3 20 377.827 - - 1 1 1 FYB|ENST00000512982|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FYB|ENST00000512982|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 3 4 4 5 29 20 29 20 4 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746419724 5 49586121 T TA 569 PASS - - - - - Ins - I 49586121 49586130 1 32 533.732 - - 8 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 3 7 3 9 27 29 27 29 3 9 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746425259 5 66378274 T TAA 360 PASS MAST4 CCDS47225.1 r.? - - Ins intronic I 66378274 66378279 2 15 316.627 - - 4 1 1 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 2 5 3 34 20 34 20 5 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746426801 5 72272444 A AT 532 PASS FCHO2 CCDS47230.1 r.? - - Ins intronic I 72272444 72272453 1 28 476.747 - - 8 1 1 FCHO2|CCDS47230.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FCHO2|CCDS47230.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 6 3 7 14 34 14 34 3 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746431835 5 86486024 TATG T 627 PASS - - - - - Del - D 86486024 86486032 3 49 645.897 - - 2 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 6 7 6 29 24 29 24 7 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746435043 5 98942061 CTTTA C 300 PASS - - - - - Del - D 98942061 98942081 4 12 269.877 - - 4 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 2 7 5 28 31 28 31 7 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746436122 5 102757954 T TAGC 569 PASS - - - - - Ins - I 102757954 102757959 3 32 521.089 - - 1 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 7 5 8 21 29 21 29 5 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746449827 5 148769780 A AC 600 PASS - - - - - Ins - I 148769780 148769790 1 35 521.691 - - 9 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 4 6 8 7 16 34 16 34 8 9 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746469481 6 30791240 C CT 877 PASS - - - - - Ins - I 30791240 30791250 1 72 797.499 - - 9 1 - - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 8 7 15 13 32 32 32 33 15 13 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746473871 6 42454456 A AT 420 PASS - - - - - Ins - I 42454456 42454463 1 14 374.133 - - 6 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 6 1 10 1 21 4 21 4 10 1 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746477587 6 55488030 AC A 480 PASS - - - - - Del - D 55488030 55488032 1 25 432.397 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 4 5 4 18 13 18 13 5 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746485792 6 84245448 TA T 480 PASS - - - - - Del - D 84245448 84245457 1 25 431.795 - - 8 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 4 7 8 21 14 21 14 7 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746490087 6 101201191 C CCA 329 PASS ASCC3 CCDS5046.1 r.? - - Ins intronic I 101201191 101201192 2 7 317.073 - - 0 1 1 ASCC3|CCDS5046.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASCC3|CCDS5046.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 0 6 1 0 22 18 22 18 1 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746494328 6 117210163 TA T 420 PASS RFX6 CCDS5113.1 r.? - - Del intronic D 117210163 117210168 1 18 378.347 - - 4 1 1 RFX6|CCDS5113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RFX6|CCDS5113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 5 3 6 15 14 15 14 3 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746496440 6 125018611 A AT 420 PASS NKAIN2 CCDS34526.1 r.? - - Ins intronic I 125018611 125018618 1 20 373.531 - - 6 1 1 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NKAIN2|CCDS34526.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 3 4 5 17 20 18 20 4 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746497457 6 129882908 T TG 420 PASS - - - - - Ins - I 129882908 129882909 1 20 372.327 - - 0 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 3 4 6 5 11 17 11 17 6 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746498596 6 134065703 T TA 360 PASS - - - - - Ins - I 134065703 134065706 1 16 320.083 - - 2 1 1 - - ./. 0 0 0 0 10 8 11 8 0 0 ./. 3 3 4 4 15 9 15 9 4 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746506081 6 161717431 AAAGG A 658 PASS - - - - - Del - D 161717431 161717437 4 40 648.595 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 9 4 10 16 23 16 23 4 10 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746516022 7 20741183 CTG C 360 PASS ABCB5 CCDS5371.1 r.? - - Del intronic D 20741183 20741188 2 15 323.78 - - 2 1 1 ABCB5|CCDS5371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCB5|CCDS5371.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 4 3 6 25 25 25 25 3 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746518317 7 27370707 T TTG 745 PASS - - - - - Ins - I 27370707 27370709 2 16 756.469 - - 0 1 - - - ./. 0 0 0 0 6 6 6 6 0 0 ./. 15 0 1 0 34 25 34 25 16 0 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746524405 7 44967875 A AG 389 PASS - - - - - Ins - I 44967875 44967876 1 20 366.304 - - 0 1 1 - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 3 4 3 6 29 32 29 32 3 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746531485 7 65789454 GA G 360 PASS TPST1 CCDS5533.1 r.? - - Del intronic D 65789454 65789463 1 15 323.78 - - 8 1 1 TPST1|CCDS5533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TPST1|CCDS5533.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 2 4 4 7 25 25 25 25 4 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746532076 7 66763280 G GGT 386 PASS STAG3L4 CCDS43594.1 r.? - - Ins upstream I 66763280 66763281 2 14 365.702 - - 0 1 1 STAG3L4|CCDS43594.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 STAG3L4|CCDS43594.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 10 3 10 3 0 0 ./. 6 1 1 0 27 16 28 16 7 1 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746544440 7 101665712 AC A 660 PASS CUX1 CCDS5721.1 r.? - - Del intronic D 101665712 101665714 1 42 593.597 - - 1 1 1 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUX1|CCDS5721.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 5 6 7 8 29 27 29 27 7 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746547620 7 110536046 T TA 449 PASS IMMP2L CCDS5753.1 r.? - - Ins intronic I 110536046 110536055 1 21 425.686 - - 8 1 1 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 6 2 7 3 28 18 29 18 7 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746548680 7 114461645 C CA 780 PASS - - - - - Ins - I 114461645 114461653 1 36 693.094 - - 7 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 11 3 11 25 28 25 28 3 11 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746550738 7 122110879 T TA 329 PASS CADPS2 CCDS47691.1 r.? - - Ins intronic I 122110879 122110881 1 7 320.168 - - 1 1 1 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CADPS2|CCDS47691.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 6 0 8 2 30 17 30 17 8 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746553771 7 130103591 G GTA 480 PASS - - - - - Ins - I 130103591 130103596 2 24 420.268 - - 2 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 5 4 7 22 33 22 33 4 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746569578 8 15052553 C CA 420 PASS SGCZ CCDS5992.2 r.? - - Ins intronic I 15052553 15052561 1 18 374.157 - - 7 1 1 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 5 10 6 0 0 ./. 5 2 5 2 28 24 28 25 5 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746571072 8 19086754 G GA 480 PASS - - - - - Ins - I 19086754 19086763 1 25 427.608 - - 8 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 4 4 7 30 35 31 36 4 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746575531 8 31590712 AT A 480 PASS NRG1 CCDS47836.1 r.? - - Del intronic D 31590712 31590722 1 25 431.22 - - 9 1 1 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 4 6 4 25 19 25 19 6 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746578972 8 43183403 GC G 622 PASS POTEA CCDS43735.1 r.? - - Del intronic D 43183403 43183406 1 48 648.034 - - 2 1 1 POTEA|CCDS43735.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POTEA|CCDS43735.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 5 11 6 27 20 27 20 11 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746583839 8 63454213 A AT 600 PASS - - - - - Ins - I 63454213 63454221 1 36 529.091 - - 7 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 5 7 8 19 27 19 28 7 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746588028 8 78015933 CTAAT C 776 PASS - - - - - Del - D 78015933 78015940 4 72 809.591 - - 1 1 1 - - ./. 0 0 0 0 3 10 3 10 0 0 ./. 8 7 9 10 22 29 22 29 9 10 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746588734 8 80680543 CGCGCTGGCGGCGGCGGCGGCG C 435 PASS HEY1 CCDS43749.1 r.? - - Del upstream D 80680543 80680572 21 72 759.62 - - 1 1 - HEY1|CCDS43749.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 HEY1|CCDS43749.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 4 7 4 0 0 ./. 7 8 7 7 30 19 30 20 8 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746590618 8 87378847 CAG C 540 PASS - - - - - Del - D 87378847 87378851 2 28 486.477 - - 1 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 6 3 7 6 20 26 20 26 7 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746599390 8 116581736 A AC 840 PASS TRPS1 CCDS6318.2 r.? - - Ins intronic I 116581736 116581738 1 64 748.313 - - 1 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 7 8 8 27 24 28 24 8 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746604405 8 133483752 TTACTAAATGCTGATAA T 290 PASS KCNQ3 CCDS34943.1 r.? - - Del intronic D 133483752 133483770 16 27 538.122 - - 1 1 1 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ3|CCDS34943.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 8 2 8 3 29 16 29 16 8 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746606617 8 140554146 CAATAAAGCA C 290 PASS - - - - - Del - D 140554146 140554159 9 32 540.53 - - 1 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 7 3 7 26 35 26 36 3 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746609331 9 3527489 TG T 480 PASS RFX3 CCDS6449.1 r.? - - Del upstream D 3527489 3527492 1 24 429.836 - - 2 1 1 RFX3|CCDS6449.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 RFX3|CCDS6449.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 3 5 3 24 20 24 20 5 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746613613 9 16394867 AC A 287 PASS - - - - - Del - D 16394867 16394873 1 36 595.164 - - 5 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 8 3 8 3 15 22 15 22 8 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746615846 9 23665969 AGGGAGG A 261 PASS - - - - - Del - D 23665969 23665978 6 30 486.35 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 5 5 5 28 23 28 24 5 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746633538 9 97342869 AGTTCTGTT A 348 PASS FBP2 CCDS6711.1 r.? - - Del intronic D 97342869 97342878 8 45 645.658 - - 1 1 1 FBP2|CCDS6711.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBP2|CCDS6711.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 8 4 10 4 25 21 25 21 10 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746633741 9 97996954 GAC G 360 PASS FANCC CCDS35071.1 r.? - - Del intronic D 97996954 97996970 2 12 324.635 - - 7 1 1 FANCC|CCDS35071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FANCC|CCDS35071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 1 5 1 5 22 23 22 23 1 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746642218 9 123708407 GAGA G 329 PASS - - - - - Del - D 123708407 123708413 3 16 324.635 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 3 7 6 17 23 17 23 7 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746645212 9 132099353 T TG 300 PASS - - - - - Ins - I 132099353 132099358 1 6 265.713 - - 4 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 5 0 7 1 18 14 18 14 7 1 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746645776 9 133308634 CG C 809 PASS HMCN2 ENST00000428715 r.? - - Del intronic D 133308634 133308637 1 64 750.257 - - 2 1 1 HMCN2|ENST00000428715|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMCN2|ENST00000428715|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 7 7 12 7 32 21 32 21 12 7 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746647683 9 138464572 G GT 300 PASS - - - - - Ins - I 138464572 138464582 1 12 266.917 - - 9 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 3 3 4 38 34 38 34 3 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746648273 9 140306753 GATTAGAGAAGGGTCAAT G 261 PASS EXD3 CCDS48066.1 r.? - - Del intronic D 140306753 140306773 17 30 486.952 - - 1 1 1 EXD3|CCDS48066.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 EXD3|CCDS48066.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 4 5 0 0 13 30 13 31 4 5 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746649412 X 5126239 TAGAAAGTGAAACACTGAAATTTGAGAG T 406 PASS - - - - - Del - D 5126239 5126267 27 63 755.236 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 6 8 4 3 21 15 23 20 6 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746651083 X 12016675 GC G 300 PASS - - - - - Del - D 12016675 12016677 1 12 270.802 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 4 2 19 35 19 35 4 2 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746653615 X 23121958 TA T 540 PASS - - - - - Del - D 23121958 23121968 1 30 487.444 - - 9 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 4 5 7 6 23 21 23 21 7 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746655263 X 29654194 C CA 360 PASS IL1RAPL1 CCDS14218.1 r.? - - Ins intronic I 29654194 29654204 1 15 315.932 - - 9 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 2 4 3 6 27 32 28 32 3 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746661987 X 58393300 TA T 300 PASS - - - - - Del - D 58393300 58393304 1 12 267.19 - - 3 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 2 3 5 3 27 28 27 28 5 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746664053 X 71816978 TA T 420 PASS PHKA1 CCDS48137.1 r.? - - Del intronic D 71816978 71816981 1 20 379.123 - - 2 1 1 PHKA1|CCDS48137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PHKA1|CCDS48137.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 5 15 5 0 0 ./. 3 4 5 4 39 35 39 35 5 4 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746665760 X 79961963 A AT 269 PASS BRWD3 CCDS14447.1 r.? - - Ins intronic I 79961963 79961973 1 10 267.792 - - 9 1 1 BRWD3|CCDS14447.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BRWD3|CCDS14447.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 1 8 8 31 35 31 35 8 8 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746672213 X 108478731 AAG A 420 PASS - - - - - Del - D 108478731 108478736 2 20 379.123 - - 2 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 4 6 6 23 27 23 27 6 6 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746678641 X 135590040 CCA C 300 PASS HTATSF1 CCDS14657.1 r.? - - Del intronic D 135590040 135590057 2 12 269.598 - - 8 1 1 HTATSF1|CCDS14657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HTATSF1|CCDS14657.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 2 3 29 35 29 35 2 3 1 1 1 1 1 1 1 1 2731451 PD14444a PD14444b 2746680131 X 141941226 C CA 522 PASS - - - - - Ins - I 141941226 141941233 1 40 589.142 - - 6 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 7 5 9 23 25 23 25 5 9 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742045996 1 35134893 CTG C 300 PASS MIR552 ENST00000385206 r.? - - Del downstream D 35134893 35134913 2 12 267.591 - - 9 1 1 MIR552|ENST00000385206|r.?|-|-|non_protein_coding:deletion:500B_downstream_variant|SO:0000011:SO:0000159:SO:0001634 MIR552|ENST00000385206|r.?|-|-|non_protein_coding:deletion:500B_downstream_variant|SO:0000011:SO:0000159:SO:0001634 ./. 0 0 0 0 11 12 13 12 0 0 ./. 3 2 3 2 23 14 24 15 3 2 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742050593 1 47345095 AATACT A 302 PASS - - - - - Del - D 47345095 47345104 5 28 483.832 - - 1 1 1 - - ./. 0 0 0 0 14 21 14 21 0 0 ./. 6 3 6 3 21 20 21 20 6 3 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742067555 1 100988613 T TC 660 PASS CDC14A CCDS769.1 r.? - - Ins downstream I 100988613 100988616 1 40 584.727 - - 2 1 1 CDC14A|CCDS769.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CDC14A|CCDS769.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 20 15 20 15 0 0 ./. 7 4 8 5 28 23 28 23 8 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742074393 1 142634685 CA C 371 PASS - - - - - Del - D 142634685 142634688 1 18 375.109 - - 2 1 1 - - ./. 0 0 0 0 52 72 52 72 0 0 ./. 5 2 6 3 90 80 90 80 6 3 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742100666 1 218678403 G GA 418 PASS - - - - - Ins - I 218678403 218678413 1 25 425.256 - - 9 1 1 - - ./. 0 0 0 0 9 13 10 13 0 0 ./. 4 4 5 5 22 21 22 21 5 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742116283 10 10756036 AC A 840 PASS - - - - - Del - D 10756036 10756038 1 63 751.962 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 8 6 10 9 36 18 36 18 10 9 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742119664 10 19071447 C CT 300 PASS - - - - - Ins - I 19071447 19071456 1 12 266.021 - - 8 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 2 4 4 21 25 21 25 4 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742120873 10 23263058 AC A 329 PASS ARMC3 CCDS7142.1 r.? - - Del intronic D 23263058 23263060 1 12 323.56 - - 1 1 1 ARMC3|CCDS7142.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARMC3|CCDS7142.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 5 1 5 1 25 11 25 11 5 1 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742122152 10 26781014 CT C 505 PASS APBB1IP CCDS31167.1 r.? - - Del intronic D 26781014 26781016 1 40 592.59 - - 1 1 1 APBB1IP|CCDS31167.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APBB1IP|CCDS31167.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 7 6 8 30 21 30 21 6 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742127720 10 42430939 G GT 600 PASS - - - - - Ins - I 42430939 42430947 1 32 532.041 - - 7 1 1 - - ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 7 4 8 26 28 26 28 4 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742129189 10 45126849 AGTCCACATC A 406 PASS - - - - - Del - D 45126849 45126861 9 63 753.166 - - 1 1 1 - - ./. 0 0 0 0 16 15 16 15 0 0 ./. 6 8 6 8 21 28 21 28 6 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742135017 10 64544914 CA C 600 PASS - - - - - Del - D 64544914 64544918 1 27 539.266 - - 3 1 1 - - ./. 0 0 0 0 26 20 26 20 0 0 ./. 8 2 10 2 31 18 31 18 10 2 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742148050 10 103406536 AT A 420 PASS FBXW4 CCDS31271.1 r.? - - Del intronic D 103406536 103406541 1 20 377.486 - - 4 1 1 FBXW4|CCDS31271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FBXW4|CCDS31271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 4 3 5 4 20 24 20 24 5 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742154323 10 122507855 G GA 300 PASS - - - - - Ins - I 122507855 122507865 1 12 265.419 - - 9 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 2 6 2 25 26 25 27 6 2 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742170090 11 31773649 G GA 480 PASS ELP4 CCDS7875.2 r.? - - Ins intronic I 31773649 31773658 1 21 427.428 - - 8 1 1 ELP4|CCDS7875.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ELP4|CCDS7875.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 14 0 0 ./. 2 6 5 8 27 24 27 24 5 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742175453 11 47352042 GCTGCCTTCATGGAATT G 377 PASS MADD CCDS7930.1 r.? - - Del downstream D 47352042 47352062 16 56 702.397 - - 1 1 1 MADD|CCDS7930.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 MADD|CCDS7930.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 10 11 10 11 0 0 ./. 7 6 7 6 29 27 29 27 7 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742178601 11 60593694 TC T 360 PASS - - - - - Del - D 60593694 60593696 1 7 320.571 - - 1 1 1 - - ./. 0 0 0 0 23 15 23 15 0 0 ./. 6 0 8 4 20 21 20 21 8 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742198734 11 120361945 C CT 360 PASS ARHGEF12 CCDS41727.1 r.? - - Ins downstream I 120361945 120361955 1 15 320.571 - - 9 1 1 ARHGEF12|CCDS41727.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ARHGEF12|CCDS41727.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 2 4 7 23 22 23 22 4 7 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742206637 12 8655257 AAGAG A 420 PASS - - - - - Del - D 8655257 8655270 4 20 378.218 - - 6 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 3 4 4 5 25 23 25 23 4 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742215971 12 32729475 CATA C 269 PASS FGD4 CCDS8727.1 r.? - - Del intronic D 32729475 32729482 3 10 270.155 - - 2 1 1 FGD4|CCDS8727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FGD4|CCDS8727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 1 4 1 7 18 22 18 22 1 7 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742226103 12 66356838 AAAC A 269 PASS HMGA2 CCDS44936.1 r.? - - Del intronic D 66356838 66356846 3 12 268.349 - - 2 1 1 HMGA2|CCDS44936.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HMGA2|CCDS44936.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 14 6 14 0 0 ./. 2 3 2 5 9 22 9 22 2 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742230506 12 80292396 CACTCACAA C 377 PASS PPP1R12A CCDS44947.1 r.? - - Del intronic D 80292396 80292408 8 54 702.404 - - 1 1 1 PPP1R12A|CCDS44947.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP1R12A|CCDS44947.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 8 5 0 0 26 20 26 20 8 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742231916 12 85157538 A AT 420 PASS - - - - - Ins - I 85157538 85157548 1 18 366.778 - - 9 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 5 4 8 21 29 23 29 4 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742233015 12 89329989 ACTC A 569 PASS - - - - - Del - D 89329989 89329994 3 36 539.107 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 5 6 7 25 26 25 26 6 7 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742236249 12 98570251 CA C 360 PASS - - - - - Del - D 98570251 98570256 1 15 324.186 - - 4 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 4 2 4 4 20 21 20 21 4 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742243428 12 119007839 A AT 749 PASS - - - - - Ins - I 119007839 119007848 1 56 693.975 - - 8 1 1 - - ./. 0 0 0 0 14 24 14 24 0 0 ./. 7 6 8 11 28 32 29 32 8 11 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742244800 12 122090399 C CA 480 PASS MORN3 CCDS31917.1 r.? - - Ins intronic I 122090399 122090403 1 21 427.432 - - 3 1 1 MORN3|CCDS31917.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 MORN3|CCDS31917.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 6 2 10 5 28 20 28 20 10 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742249894 13 19767269 C CA 660 PASS - - - - - Ins - I 19767269 19767276 1 40 582.482 - - 6 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 7 4 9 7 20 28 20 29 9 7 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742251904 13 23779967 TA T 420 PASS SGCG CCDS9299.1 r.? - - Del intronic D 23779967 23779969 1 20 379.099 - - 1 1 1 SGCG|CCDS9299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCG|CCDS9299.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 20 13 20 0 0 ./. 4 3 6 4 19 21 19 21 6 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742257774 13 39643015 GTTAA G 538 PASS - - - - - Del - D 39643015 39643024 4 36 541.57 - - 2 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 5 5 6 23 22 23 22 5 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742263784 13 56678992 TTAA T 687 PASS - - - - - Del - D 56678992 56678997 3 56 695.612 - - 1 1 1 - - ./. 0 0 0 0 10 20 10 20 0 0 ./. 6 7 6 8 16 24 16 24 6 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742267554 13 68224442 ATTTC A 534 PASS - - - - - Del - D 68224442 68224450 4 45 646.874 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 8 4 12 5 35 21 35 21 12 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742267712 13 68750954 G GA 720 PASS - - - - - Ins - I 68750954 68750964 1 48 641.455 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 7 5 6 6 32 20 32 22 7 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742295986 14 54242001 A AT 540 PASS - - - - - Ins - I 54242001 54242006 1 30 482.505 - - 4 1 1 - - ./. 0 0 0 0 6 15 8 15 0 0 ./. 5 4 6 5 30 23 30 23 6 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742302814 14 74744509 A AGAT 629 PASS - - - - - Ins - I 74744509 74744513 3 36 569.861 - - 1 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 3 8 3 8 23 20 23 21 3 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742303053 14 75403068 GT G 720 PASS - - - - - Del - D 75403068 75403070 1 45 648.157 - - 1 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 8 4 10 5 41 26 41 26 10 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742306174 14 84814517 AG A 480 PASS - - - - - Del - D 84814517 84814520 1 24 433.108 - - 2 1 1 - - ./. 0 0 0 0 17 21 17 21 0 0 ./. 5 3 6 3 25 30 25 30 6 3 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742306872 14 86857899 T TA 720 PASS - - - - - Ins - I 86857899 86857906 1 45 642.136 - - 6 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 8 5 12 24 33 25 33 5 12 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742316544 15 25330303 T TCAAACA 319 PASS ENSG00000206193 ENST00000383025 r.? - - Ins intronic I 25330303 25330312 6 22 556.244 - - 1 1 1 ENSG00000206193|ENST00000383025|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000206193|ENST00000383025|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 1 10 1 9 27 26 27 27 1 10 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742324912 15 49741154 C CT 660 PASS FGF7 CCDS10131.1 r.? - - Ins intronic I 49741154 49741163 1 36 586.949 - - 8 1 1 FGF7|CCDS10131.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FGF7|CCDS10131.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 8 3 12 4 36 19 36 19 12 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742324992 15 49942275 CTA C 329 PASS DTWD1 CCDS10132.1 r.? - - Del downstream D 49942275 49942290 2 16 323.602 - - 7 1 1 DTWD1|CCDS10132.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DTWD1|CCDS10132.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 5 17 5 0 0 ./. 3 3 3 4 29 20 29 20 3 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742338895 15 88974640 TG T 840 PASS - - - - - Del - D 88974640 88974644 1 48 759.286 - - 3 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 11 3 14 4 26 11 26 11 14 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742344537 16 1754403 TG T 540 PASS MAPK8IP3 CCDS10442.2 r.? - - Del upstream D 1754403 1754405 1 28 484.661 - - 1 1 1 MAPK8IP3|CCDS10442.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 MAPK8IP3|CCDS10442.2|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 18 9 18 9 0 0 ./. 6 3 6 3 30 25 30 25 6 3 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742350929 16 15110789 T TATA 873 PASS PDXDC1 CCDS32393.1 r.? - - Ins intronic I 15110789 15110791 3 110 994.61 - - 0 1 1 PDXDC1|CCDS32393.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDXDC1|CCDS32393.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 19 24 19 0 0 ./. 10 9 11 10 41 41 41 41 11 10 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742359944 16 34414726 G GA 300 PASS - - - - - Ins - I 34414726 34414736 1 12 267.918 - - 9 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 3 2 3 2 29 22 29 24 3 2 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742369967 16 79410418 AT A 394 PASS - - - - - Del - D 79410418 79410427 1 20 379.3 - - 8 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 4 3 8 4 15 12 15 12 8 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742372853 16 88254163 GC G 259 PASS - - - - - Del - D 88254163 88254168 1 8 379.3 - - 4 1 1 - - ./. 0 0 0 0 6 18 6 18 0 0 ./. 7 0 7 0 15 14 15 14 7 0 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742372943 16 88600402 A AC 300 PASS ZFPM1 CCDS32502.1 r.2358_2359insc c.2036_2037insC p.S681fs*>328 Ins frameshift I 88600402 88600407 1 10 267.918 - - 4 1 1 ZFPM1|CCDS32502.1|r.2358_2359insc|c.2036_2037insC|p.S681fs*>328|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ZFPM1|CCDS32502.1|r.2358_2359insc|c.2036_2037insC|p.S681fs*>328|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 1 4 1 12 12 12 12 4 1 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742383726 17 30625639 GA G 780 PASS RHBDL3 CCDS32613.1 r.? - - Del intronic D 30625639 30625644 1 56 702.901 - - 4 1 1 RHBDL3|CCDS32613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RHBDL3|CCDS32613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 18 14 18 0 0 ./. 7 6 9 6 21 20 21 20 9 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742385917 17 37659226 TATTTGACAGGGATCAGCATCACTTGAACCCAGGAGG TAACCTCA 348 PASS CDK12 CCDS45666.1 r.? - - Complex intronic DI 37659227 37659262 36 49 0 - - 0 1 1 CDK12|CCDS45666.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 CDK12|CCDS45666.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 18 11 18 11 0 0 ./. 6 6 0 0 16 7 18 10 6 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742393891 17 60134768 C CA 720 PASS MED13 CCDS42366.1 r.? - - Ins intronic I 60134768 60134776 1 48 640.866 - - 7 1 1 MED13|CCDS42366.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MED13|CCDS42366.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 5 7 5 8 24 44 24 44 5 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742402996 18 708532 T TA 300 PASS ENOSF1 CCDS45821.1 r.? - - Ins intronic I 708532 708542 1 10 254.916 - - 9 1 1 ENOSF1|CCDS45821.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENOSF1|CCDS45821.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 10 15 10 0 0 ./. 4 1 4 1 30 22 31 22 4 1 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742419822 18 53597891 TGTTA T 269 PASS - - - - - Del - D 53597891 53597898 4 12 271.172 - - 1 1 1 - - ./. 0 0 0 0 8 21 8 21 0 0 ./. 3 2 5 3 22 26 22 26 5 3 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742421799 18 59205049 A AG 420 PASS CDH20 CCDS11977.1 r.? - - Ins intronic I 59205049 59205056 1 20 375.426 - - 6 1 1 CDH20|CCDS11977.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDH20|CCDS11977.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 3 6 5 25 31 25 31 6 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742433399 19 10772748 CT C 420 PASS ILF3 CCDS45965.1 r.? - - Del intronic D 10772748 10772751 1 14 379.66 - - 2 1 1 ILF3|CCDS45965.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ILF3|CCDS45965.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 6 1 8 2 33 18 33 18 8 2 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742439318 19 22570520 CAGA C 301 PASS ZNF98 CCDS46031.1 r.? - - Del downstream D 22570520 22570526 3 15 325.423 - - 1 1 1 ZNF98|CCDS46031.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF98|CCDS46031.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 13 9 13 0 0 ./. 2 4 3 5 24 22 24 22 3 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742458639 2 13590155 A AT 276 PASS - - - - - Ins - I 13590155 13590165 1 12 265.946 - - 9 1 1 - - ./. 0 0 0 0 22 14 23 14 0 0 ./. 3 2 4 2 37 25 37 25 4 2 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742471600 2 52039120 AAG A 329 PASS - - - - - Del - D 52039120 52039137 2 12 321.543 - - 8 1 1 - - ./. 0 0 0 0 21 10 21 10 0 0 ./. 1 5 1 5 19 37 19 37 1 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742479328 2 77187635 G GA 600 PASS LRRTM4 CCDS46346.1 r.? - - Ins intronic I 77187635 77187642 1 36 530.086 - - 6 1 1 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 16 14 0 0 ./. 5 5 5 7 25 19 26 19 5 7 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742481277 2 84247080 T TA 360 PASS - - - - - Ins - I 84247080 84247090 1 15 319.135 - - 9 1 1 - - ./. 0 0 0 0 13 13 15 13 0 0 ./. 4 2 7 4 30 14 30 14 7 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742490896 2 117270581 G GT 420 PASS - - - - - Ins - I 117270581 117270591 1 8 370.518 - - 9 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 0 7 0 8 3 26 3 26 0 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742501384 2 149631657 TA T 720 PASS KIF5C ENST00000435030 r.? - - Del upstream D 149631657 149631659 1 33 645.495 - - 1 1 1 KIF5C|ENST00000435030|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 KIF5C|ENST00000435030|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 10 3 11 17 26 17 26 3 11 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742507371 2 170084077 TA T 420 PASS LRP2 CCDS2232.1 r.? - - Del intronic D 170084077 170084080 1 20 376.539 - - 2 1 1 LRP2|CCDS2232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP2|CCDS2232.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 18 7 18 0 0 ./. 4 3 4 5 25 21 25 21 4 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742512719 2 185706518 AT A 360 PASS ZNF804A CCDS2291.1 r.? - - Del intronic D 185706518 185706527 1 15 322.145 - - 8 1 1 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF804A|CCDS2291.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 3 15 3 0 0 ./. 4 2 5 4 21 19 21 19 5 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742525378 2 223477226 T TG 780 PASS FARSB CCDS2454.1 r.? - - Ins intronic I 223477226 223477228 1 50 685.439 - - 1 1 1 FARSB|CCDS2454.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FARSB|CCDS2454.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 12 0 0 ./. 9 4 11 5 25 24 25 24 11 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742527651 2 229494786 TC T 840 PASS - - - - - Del - D 229494786 229494790 1 60 752.475 - - 3 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 9 5 9 23 23 23 23 5 9 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742531021 2 239310476 CTCTTCTT C 290 PASS TRAF3IP1 CCDS33415.1 r.? - - Del downstream D 239310476 239310486 7 36 537.31 - - 1 1 1 TRAF3IP1|CCDS33415.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TRAF3IP1|CCDS33415.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 5 6 5 21 26 21 26 6 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742552793 20 57855050 TC T 420 PASS - - - - - Del - D 57855050 57855053 1 14 379.169 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 6 3 7 17 24 17 24 3 7 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742555664 21 10015283 A ATT 282 PASS - - - - - Ins - I 10015283 10015290 2 50 690.76 - - 6 1 1 - - ./. 0 0 0 0 68 22 68 23 0 0 ./. 9 4 12 5 92 39 92 39 12 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742558977 21 16558770 ATCTCAATCACATATGAGTATTAGTAGATTTCATTATTTAAATGAT A 435 PASS - - - - - Del - D 16558770 16558817 45 66 815.093 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 10 0 5 21 27 26 32 5 10 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742577261 22 30217279 GCCCTCTCTGAACT G 423 PASS ASCC2 CCDS13869.1 r.? - - Del intronic D 30217279 30217294 13 70 818.971 - - 1 1 1 ASCC2|CCDS13869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ASCC2|CCDS13869.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 9 6 9 5 18 17 18 18 9 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742588676 3 12713381 A AC 300 PASS - - - - - Ins - I 12713381 12713382 1 10 261.043 - - 0 1 1 - - ./. 0 0 0 0 11 10 11 11 0 0 ./. 4 1 6 1 18 20 19 21 6 1 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742593789 3 30169104 CAT C 434 PASS - - - - - Del - D 30169104 30169109 2 21 431.155 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 2 8 4 22 28 22 28 8 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742600624 3 50321999 AAAAATAC A 319 PASS IFRD2 CCDS46831.1 r.? - - Del downstream D 50321999 50322011 7 42 588.021 - - 1 1 1 IFRD2|CCDS46831.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 C3orf45|CCDS2814.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 5 6 5 5 26 23 26 24 5 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742606359 3 67712225 T TA 480 PASS - - - - - Ins - I 67712225 67712232 1 25 424.532 - - 6 1 1 - - ./. 0 0 0 0 10 13 10 14 0 0 ./. 4 4 5 8 24 26 24 26 5 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742606513 3 68330467 G GT 480 PASS FAM19A1 ENST00000478136 r.? - - Ins intronic I 68330467 68330476 1 24 426.338 - - 8 1 1 FAM19A1|ENST00000478136|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM19A1|ENST00000478136|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 5 3 7 5 20 22 20 22 7 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742611696 3 81504672 AG A 480 PASS - - - - - Del - D 81504672 81504674 1 24 429.951 - - 1 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 3 5 4 5 31 19 31 19 4 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742612494 3 84295305 G GA 300 PASS - - - - - Ins - I 84295305 84295313 1 12 265.859 - - 7 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 3 2 4 4 16 21 16 21 4 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742613012 3 86170875 C CGA 329 PASS - - - - - Ins - I 86170875 86170893 2 12 305.906 - - 8 1 - - - ./. 0 0 0 0 20 13 20 13 0 0 ./. 5 1 5 1 26 23 26 23 5 1 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742616130 3 100357967 C CT 420 PASS GPR128 CCDS2938.1 r.? - - Ins intronic I 100357967 100357974 1 20 373.046 - - 6 1 1 GPR128|CCDS2938.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPR128|CCDS2938.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 4 4 4 17 18 17 18 4 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742627304 3 136107493 GCCACCGCA G 319 PASS STAG1 CCDS3090.1 r.? - - Del intronic D 136107493 136107504 8 36 592.236 - - 1 1 1 STAG1|CCDS3090.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STAG1|CCDS3090.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 3 8 3 9 17 24 17 24 3 9 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742633167 3 154621417 TG T 360 PASS - - - - - Del - D 154621417 154621426 1 16 322.764 - - 8 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 4 7 24 22 24 22 4 7 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742647632 4 334284 TGATTAAACCTGA T 377 PASS ZNF141 ENST00000240499 r.? - - Del intronic D 334284 334299 12 56 700.257 - - 1 1 1 ZNF141|ENST00000240499|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF141|ENST00000240499|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 7 6 7 6 24 22 24 22 7 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742653638 4 17933620 CCA C 658 PASS LCORL CCDS3425.1 r.? - - Del intronic D 17933620 17933629 2 48 645.187 - - 4 1 1 LCORL|CCDS3425.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LCORL|CCDS3425.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 7 5 7 6 21 19 21 19 7 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742654295 4 20501319 GC G 431 PASS SLIT2 ENST00000504154 r.? - - Del intronic D 20501319 20501322 1 24 430.927 - - 2 1 1 SLIT2|ENST00000504154|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT2|ENST00000504154|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 12 20 12 0 0 ./. 3 5 3 7 17 22 17 22 3 7 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742660377 4 38406255 T TTTCTCTCTTTTTCTTTCTTTCC 360 PASS - - - - - Ins - I 38406255 38406260 22 16 243.724 - - 0 1 1 - - ./. 0 0 0 0 24 22 24 22 0 0 ./. 3 3 0 0 18 29 18 30 3 3 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742678408 4 92629389 CAG C 300 PASS - - - - - Del - D 92629389 92629407 2 10 269.33 - - 8 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 4 1 4 3 29 23 29 23 4 3 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742684062 4 112714311 CTTACAAGAGCAGAG C 319 PASS - - - - - Del - D 112714311 112714326 14 36 592.525 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 8 3 7 25 21 25 22 3 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742688297 4 126521919 CAAAT C 360 PASS - - - - - Del - D 126521919 126521927 4 16 323.195 - - 1 1 1 - - ./. 0 0 0 0 22 23 22 23 0 0 ./. 3 3 4 5 20 25 20 25 4 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742688885 4 128546387 CT C 480 PASS INTU ENST00000504491 r.? - - Del intronic D 128546387 128546392 1 24 430.927 - - 4 1 1 INTU|ENST00000504491|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INTU|ENST00000504491|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 5 3 5 5 17 21 17 21 5 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742698320 4 158950748 TAAAG T 509 PASS - - - - - Del - D 158950748 158950755 4 30 484.793 - - 1 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 4 5 6 5 24 25 24 25 6 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742699521 4 162157006 TAC T 660 PASS - - - - - Del - D 162157006 162157010 2 42 591.923 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 5 6 5 9 25 20 25 20 5 9 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742719925 5 24356578 AT A 480 PASS - - - - - Del - D 24356578 24356582 1 21 431.586 - - 3 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 2 6 5 7 24 25 24 25 5 7 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742720867 5 27166649 AT A 600 PASS - - - - - Del - D 27166649 27166655 1 32 539.483 - - 5 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 7 3 7 6 29 30 29 30 7 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742722863 5 32332858 GTTGT G 629 PASS - - - - - Del - D 32332858 32332877 4 42 591.625 - - 4 1 - - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 6 5 8 5 30 16 30 16 8 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742723214 5 33300273 ACTC A 507 PASS - - - - - Del - D 33300273 33300279 3 35 539.483 - - 1 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 6 4 8 5 24 31 24 31 8 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742724466 5 37079005 G GT 480 PASS - - - - - Ins - I 37079005 37079012 1 25 426.77 - - 6 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 4 4 6 4 32 34 32 36 6 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742726268 5 43080392 GC G 749 PASS ZNF131 ENST00000507393 r.? - - Del intronic D 43080392 43080394 1 54 698.92 - - 1 1 1 ZNF131|ENST00000507393|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZNF131|ENST00000507393|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 5 8 7 12 27 25 27 25 7 12 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742734431 5 74016965 C CTT 540 PASS HEXB CCDS4022.1 r.1753_1754insuu c.1636_1637insTT p.Y547fs*30 Ins frameshift I 74016965 74016969 2 30 474.698 - - 3 1 1 HEXB|CCDS4022.1|r.1753_1754insuu|c.1636_1637insTT|p.Y547fs*30|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 HEXB|CCDS4022.1|r.1753_1754insuu|c.1636_1637insTT|p.Y547fs*30|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 14 9 14 9 0 0 ./. 5 4 5 7 20 21 20 21 5 7 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742737941 5 84476367 TATATA T 329 PASS - - - - - Del - D 84476367 84476378 5 15 323.69 - - 2 1 - - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 4 2 6 4 15 23 15 23 6 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742738990 5 88156309 A AT 480 PASS MEF2C CCDS47244.1 r.? - - Ins intronic I 88156309 88156319 1 25 418.341 - - 9 1 1 MEF2C|CCDS47244.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MEF2C|CCDS47244.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 4 7 5 29 26 30 26 7 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742740685 5 95636965 GAA G 509 PASS - - - - - Del - D 95636965 95636970 2 24 485.535 - - 4 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 7 2 9 8 31 20 31 20 9 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742743276 5 104984879 GA G 660 PASS - - - - - Del - D 104984879 104984883 1 36 592.829 - - 3 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 8 3 9 4 24 13 24 13 9 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742756974 5 150276708 AAG A 749 PASS ZNF300 ENST00000394226 r.? - - Del intronic D 150276708 150276712 2 56 701.328 - - 1 1 1 ZNF300|ENST00000394226|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF300|ENST00000394226|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 21 19 21 0 0 ./. 6 7 6 8 30 22 30 22 6 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742760577 5 161773337 C CT 480 PASS - - - - - Ins - I 161773337 161773344 1 21 426.168 - - 6 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 6 2 7 2 29 27 29 28 7 2 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742777159 6 25308432 G GGT 360 PASS LRRC16A ENST00000329474 r.? - - Ins intronic I 25308432 25308433 2 12 316.39 - - 0 1 1 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRC16A|ENST00000329474|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 1 5 2 23 19 24 20 5 2 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742784536 6 44894962 AT A 480 PASS SUPT3H CCDS34466.1 r.? - - Del intronic D 44894962 44894964 1 25 431.486 - - 1 1 1 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SUPT3H|CCDS34466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 4 4 4 8 22 24 22 24 4 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742789996 6 62763643 TCAAA T 720 PASS KHDRBS2 CCDS4963.1 r.? - - Del intronic D 62763643 62763651 4 45 647.229 - - 1 1 1 KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KHDRBS2|CCDS4963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 17 17 17 0 0 ./. 4 8 6 10 16 29 16 29 6 10 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742804817 6 108793373 TA T 600 PASS LACE1 CCDS5067.1 r.? - - Del intronic D 108793373 108793376 1 32 538.756 - - 2 1 1 LACE1|CCDS5067.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LACE1|CCDS5067.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 3 7 6 9 22 28 22 28 6 9 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742813419 6 137319264 AAT A 300 PASS IL20RA CCDS5181.1 r.? - - Del downstream D 137319264 137319267 2 10 269.679 - - 1 1 1 IL20RA|CCDS5181.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 IL20RA|CCDS5181.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 6 14 6 14 0 0 ./. 1 4 2 5 14 20 14 20 2 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742838812 7 40938086 G GGC 420 PASS - - - - - Ins - I 40938086 40938088 2 8 367.981 - - 0 1 1 - - ./. 0 0 0 0 8 7 8 7 0 0 ./. 7 0 1 0 20 12 21 12 7 0 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742847170 7 65599615 TAGC T 327 PASS CRCP CCDS5532.1 r.? - - Del intronic D 65599615 65599621 3 20 374.001 - - 1 1 1 CRCP|CCDS5532.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CRCP|CCDS5532.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 3 5 6 19 22 19 22 5 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742882972 8 8776586 TTG T 418 PASS - - - - - Del - D 8776586 8776592 2 25 432.23 - - 2 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 4 5 4 18 25 18 25 5 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742902915 8 73633390 ACAT A 509 PASS KCNB2 CCDS6209.1 r.? - - Del intronic D 73633390 73633398 3 30 486.259 - - 2 1 1 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNB2|CCDS6209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 5 4 8 13 28 13 28 4 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742913378 8 107995019 TA T 660 PASS - - - - - Del - D 107995019 107995024 1 42 594.316 - - 4 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 6 5 12 6 31 23 31 23 12 6 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742923865 8 141900888 A AT 540 PASS PTK2 CCDS6381.1 r.? - - Ins intronic I 141900888 141900895 1 30 480.84 - - 6 1 1 PTK2|CCDS6381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTK2|CCDS6381.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 4 5 5 5 23 26 23 26 5 5 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742947478 9 87754329 ATG A 449 PASS - - - - - Del - D 87754329 87754332 2 24 432.079 - - 1 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 3 6 4 24 20 24 20 6 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742949800 9 94974260 C CA 300 PASS IARS CCDS6694.1 r.? - - Ins intronic I 94974260 94974270 1 10 266.813 - - 9 1 1 IARS|CCDS6694.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IARS|CCDS6694.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 20 11 20 0 0 ./. 4 1 6 1 24 22 24 23 6 1 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742957690 9 119272797 G GT 392 PASS ASTN2 CCDS48009.1 r.? - - Ins intronic I 119272797 119272804 1 36 588.314 - - 6 1 1 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ASTN2|CCDS48009.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 19 16 19 0 0 ./. 3 8 4 8 16 25 17 26 4 9 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742963240 9 134543891 C CA 360 PASS RAPGEF1 CCDS48048.1 r.? - - Ins intronic I 134543891 134543892 1 16 319.694 - - 0 1 1 RAPGEF1|CCDS48048.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAPGEF1|CCDS48048.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 3 4 3 22 14 22 14 4 3 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742966847 X 7427841 GT G 375 PASS - - - - - Del - D 7427841 7427843 1 24 485.946 - - 1 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 7 2 7 3 13 16 13 16 7 3 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742981035 X 70136361 GTTGT G 269 PASS - - - - - Del - D 70136361 70136385 4 12 270.639 - - 5 1 - - - ./. 0 0 0 0 19 9 19 9 0 0 ./. 2 3 3 4 22 17 22 17 3 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742989127 X 102052732 G GA 900 PASS - - - - - Ins - I 102052732 102052742 1 66 781.813 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 10 5 10 8 24 20 24 20 10 8 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742991783 X 114416504 C CT 300 PASS LRCH2 CCDS48155.1 r.? - - Ins intronic I 114416504 114416513 1 12 267.629 - - 8 1 1 LRCH2|CCDS48155.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRCH2|CCDS48155.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 4 4 23 29 24 30 4 4 1 1 1 1 1 1 1 1 2726297 PD18111a PD18111b 2742998046 X 139647271 TC T 660 PASS - - - - - Del - D 139647271 139647274 1 42 595.406 - - 2 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 5 6 9 9 23 30 23 30 9 9 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2737861681 1 64408106 A AT 360 PASS ROR1 CCDS626.1 r.? - - Ins intronic I 64408106 64408116 1 16 318.231 - - 9 1 1 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROR1|CCDS626.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 20 19 21 0 0 ./. 3 3 5 4 35 31 35 32 5 4 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2737879999 1 119286354 G GCC 720 PASS - - - - - Ins - I 119286354 119286356 2 48 629.839 - - 1 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 7 7 7 21 29 21 29 7 7 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2737886053 1 151816045 A AC 300 PASS THEM5 CCDS1005.1 r.? - - Ins downstream I 151816045 151816046 1 12 263.286 - - 0 1 1 THEM5|CCDS1005.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 C2CD4D|CCDS44224.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 23 13 23 0 0 ./. 3 2 4 4 31 31 32 31 4 4 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2737920751 10 695566 CA C 636 PASS DIP2C CCDS7054.1 r.? - - Del intronic D 695566 695570 1 40 592.924 - - 3 1 1 DIP2C|CCDS7054.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIP2C|CCDS7054.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 19 10 19 0 0 ./. 7 4 8 10 25 22 25 22 8 10 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2737933823 10 32588014 T TG 780 PASS EPC1 CCDS7172.1 r.? - - Ins intronic I 32588014 32588016 1 54 692.299 - - 1 1 1 EPC1|CCDS7172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPC1|CCDS7172.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 13 25 13 0 0 ./. 8 5 11 6 27 18 27 18 11 6 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2737940454 10 52615880 G GACTA 778 PASS A1CF CCDS7243.1 r.? - - Ins intronic I 52615880 52615885 4 63 720.915 - - 1 1 1 A1CF|CCDS7243.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 A1CF|CCDS7243.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 6 8 7 10 28 28 29 28 7 10 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2737962796 10 114853348 TC T 360 PASS TCF7L2 CCDS7576.1 r.? - - Del intronic D 114853348 114853350 1 15 323.413 - - 1 1 1 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TCF7L2|CCDS7576.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 4 3 6 18 20 18 20 3 6 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2737988041 11 48545255 AT A 396 PASS - - - - - Del - D 48545255 48545265 1 20 378.017 - - 9 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 3 4 3 5 27 31 27 31 3 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2737989698 11 57288961 TA T 360 PASS - - - - - Del - D 57288961 57288963 1 15 311.371 - - 1 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 2 4 2 5 28 29 28 29 2 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738014964 11 127887816 CATT C 420 PASS - - - - - Del - D 127887816 127887822 3 20 378.017 - - 1 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 4 3 10 7 32 26 32 26 10 7 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738022047 12 11624529 TG T 420 PASS - - - - - Del - D 11624529 11624536 1 20 378.119 - - 6 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 4 3 5 4 26 29 26 29 5 4 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738024348 12 17755877 CG C 269 PASS - - - - - Del - D 17755877 17755879 1 12 269.483 - - 1 1 1 - - ./. 0 0 0 0 16 23 16 23 0 0 ./. 3 2 6 3 23 26 23 26 6 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738026159 12 21967456 CA C 1200 PASS ABCC9 CCDS8693.1 r.? - - Del intronic D 21967456 21967458 1 112 1079.14 - - 1 1 1 ABCC9|CCDS8693.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCC9|CCDS8693.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 7 13 9 13 21 30 21 30 9 13 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738041693 12 67982193 TAC T 600 PASS - - - - - Del - D 67982193 67982197 2 36 539.568 - - 1 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 5 5 8 8 22 25 22 25 8 8 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738052256 12 99965627 TAGGAGCTGGTCTAAC T 261 PASS ANKS1B ENST00000329257 r.? - - Del intronic D 99965627 99965645 15 30 486.153 - - 1 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 14 23 14 0 0 ./. 5 4 5 4 20 21 20 21 5 4 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738072021 13 33678601 ATTT A 329 PASS STARD13 CCDS9348.1 r.4585_4587delAAA c.? p.? Del 3'UTR variant D 33678601 33678606 3 7 324.834 - - 4 1 1 STARD13|CCDS9348.1|r.4585_4587delAAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 STARD13|CCDS9348.1|r.4585_4587delAAA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 13 26 13 26 0 0 ./. 0 6 2 6 20 30 20 30 2 6 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738091305 13 90034628 ATAT A 509 PASS - - - - - Del - D 90034628 90034635 3 24 486.047 - - 2 1 1 - - ./. 0 0 0 0 4 15 4 15 0 0 ./. 7 2 9 2 20 13 20 13 9 2 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738100550 14 19805191 C CA 290 PASS - - - - - Ins - I 19805191 19805198 1 32 535.488 - - 6 1 1 - - ./. 0 0 0 0 33 26 33 26 0 0 ./. 7 3 10 5 59 48 59 48 10 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738100559 14 19818359 T TG 265 PASS - - - - - Ins - I 19818359 19818360 1 10 265.336 - - 0 1 - - - ./. 0 0 0 0 29 24 29 24 0 0 ./. 4 1 0 0 54 40 57 40 4 1 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738110468 14 41756480 G GA 900 PASS - - - - - Ins - I 41756480 41756488 1 72 802.63 - - 7 1 1 - - ./. 0 0 0 0 21 13 22 13 0 0 ./. 7 8 8 9 62 73 62 74 8 9 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738110562 14 41967283 ACT A 300 PASS - - - - - Del - D 41967283 41967287 2 12 270.755 - - 1 1 - - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 2 3 3 52 57 52 57 3 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738114750 14 50814060 TAG T 360 PASS CDKL1 CCDS9699.1 r.? - - Del intronic D 50814060 50814080 2 15 323.099 - - 9 1 1 CDKL1|CCDS9699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDKL1|CCDS9699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 2 4 4 5 63 51 63 51 4 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738120376 14 62761593 AG A 840 PASS - - - - - Del - D 62761593 62761596 1 48 758.113 - - 2 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 11 3 13 3 44 24 44 24 13 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738132764 15 20121011 CA C 535 PASS - - - - - Del - D 20121011 20121015 1 140 1186.7 - - 3 1 1 - - ./. 0 0 0 0 42 68 42 68 0 0 ./. 13 9 21 12 235 216 236 219 21 12 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738135480 15 26468165 GC G 1020 PASS - - - - - Del - D 26468165 26468168 1 90 921.649 - - 2 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 9 8 12 11 26 34 26 34 12 11 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738169120 16 10051813 GT G 360 PASS GRIN2A CCDS10539.1 r.? - - Del intronic D 10051813 10051818 1 12 323.864 - - 4 1 1 GRIN2A|CCDS10539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIN2A|CCDS10539.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 5 1 6 2 33 41 33 41 6 2 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738170713 16 12198553 TG T 1080 PASS SNX29 CCDS45416.1 r.? - - Del intronic D 12198553 12198555 1 99 972.796 - - 1 1 1 SNX29|CCDS45416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNX29|CCDS45416.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 8 10 16 18 49 42 49 42 16 18 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738171384 16 13280076 TTG T 269 PASS SHISA9 CCDS45417.1 r.? - - Del intronic D 13280076 13280096 2 10 268.582 - - 9 1 - SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SHISA9|CCDS45417.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 30 23 30 0 0 ./. 1 4 2 7 62 80 62 80 2 7 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738176612 16 22659126 TATA T 749 PASS ENSG00000224154 ENST00000430965 r.? - - Del intronic D 22659126 22659134 3 56 703.01 - - 2 1 1 ENSG00000224154|ENST00000430965|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000224154|ENST00000430965|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 57 32 57 0 0 ./. 7 6 9 8 109 121 109 121 9 8 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738176998 16 23390489 G GCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCAC 660 PASS SCNN1B CCDS10609.1 r.? - - Ins intronic I 23390489 23390505 38 48 478.01 - - 0 1 - SCNN1B|CCDS10609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCNN1B|CCDS10609.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 20 26 20 0 0 ./. 2 15 0 0 75 90 77 103 2 15 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738182744 16 32465364 AC A 516 PASS - - - - - Del - D 32465364 32465368 1 19 972.194 - - 3 1 1 - - ./. 0 0 0 0 30 37 30 37 0 0 ./. 18 0 19 0 84 74 84 74 19 0 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738185869 16 46676762 A AG 269 PASS - - - - - Ins - I 46676762 46676763 1 6 267.378 - - 0 1 - - - ./. 0 0 0 0 21 15 22 15 0 0 ./. 5 0 6 2 31 29 31 29 6 2 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738207019 17 18312616 GTTT G 296 PASS ENSG00000220161 ENST00000407600 r.? - - Del upstream D 18312616 18312621 3 8 379.173 - - 4 1 1 ENSG00000220161|ENST00000407600|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000220161|ENST00000407600|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 20 17 20 17 0 0 ./. 7 0 9 0 41 33 41 33 9 0 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738207748 17 20537807 TGAGAAATTTA T 335 PASS - - - - - Del - D 20537807 20537819 10 54 704.179 - - 1 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 8 5 11 6 22 17 22 17 11 6 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738236248 18 9731271 CT C 360 PASS RAB31 CCDS45826.1 r.? - - Del intronic D 9731271 9731274 1 12 325.261 - - 2 1 1 RAB31|CCDS45826.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAB31|CCDS45826.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 1 5 3 8 15 24 15 24 3 8 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738243152 18 31849731 CTA C 600 PASS - - - - - Del - D 31849731 31849734 2 36 541.5 - - 1 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 5 5 8 8 30 20 30 20 8 8 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738269779 19 20836937 T TA 444 PASS ZNF626 CCDS42535.1 r.? - - Ins intronic I 20836937 20836945 1 21 427.136 - - 7 1 1 ZNF626|CCDS42535.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF626|CCDS42535.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 18 26 18 0 0 ./. 6 2 6 5 30 20 31 20 6 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738285949 19 58751639 T TA 360 PASS ZNF544 CCDS12973.1 r.? - - Ins intronic I 58751639 58751640 1 15 321.105 - - 0 1 - ZNF544|CCDS12973.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF544|CCDS12973.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 13 26 13 0 0 ./. 4 2 4 3 28 28 28 28 4 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738296970 2 32593265 T TC 900 PASS BIRC6 CCDS33175.2 r.? - - Ins intronic I 32593265 32593267 1 52 786 - - 1 1 1 BIRC6|CCDS33175.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BIRC6|CCDS33175.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 12 3 15 5 30 20 31 20 15 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738305750 2 57273037 GT G 720 PASS - - - - - Del - D 57273037 57273042 1 45 642.768 - - 4 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 4 8 8 10 16 27 16 27 8 10 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738313967 2 82854628 GATGA G 687 PASS - - - - - Del - D 82854628 82854635 4 54 698.941 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 8 6 10 16 17 16 17 6 10 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738314327 2 83837340 T TA 300 PASS - - - - - Ins - I 83837340 83837350 1 10 265.813 - - 9 1 1 - - ./. 0 0 0 0 20 18 21 18 0 0 ./. 1 4 1 4 35 29 35 29 1 4 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738321157 2 106620083 TA T 420 PASS - - - - - Del - D 106620083 106620085 1 18 376.353 - - 1 1 1 - - ./. 0 0 0 0 16 25 16 25 0 0 ./. 2 5 9 13 16 35 16 35 9 13 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738322214 2 109834303 GC G 540 PASS SH3RF3 ENST00000309415 r.? - - Del intronic D 109834303 109834309 1 28 483.28 - - 5 1 1 SH3RF3|ENST00000309415|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3RF3|ENST00000309415|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 6 20 6 0 0 ./. 6 3 7 3 21 18 21 18 7 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738347663 2 186682418 C CA 300 PASS FSIP2 ENST00000424728 r.? - - Ins intronic I 186682418 186682425 1 12 265.813 - - 6 1 1 FSIP2|ENST00000424728|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FSIP2|ENST00000424728|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 16 27 16 0 0 ./. 3 2 3 3 29 20 29 20 3 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738374781 20 20576939 CTAAATCACATAGAT C 406 PASS RALGAPA2 CCDS46584.1 r.? - - Del intronic D 20576939 20576956 14 60 759.371 - - 1 1 1 RALGAPA2|CCDS46584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RALGAPA2|CCDS46584.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 9 5 8 5 23 15 24 15 9 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738390629 21 9667920 TG T 484 PASS - - - - - Del - D 9667920 9667922 1 30 1572.49 - - 1 1 1 - - ./. 0 0 0 0 65 32 65 32 0 0 ./. 29 0 34 0 128 83 128 83 34 0 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738394476 21 15919053 CG C 600 PASS SAMSN1 CCDS42906.1 r.? - - Del upstream D 15919053 15919056 1 32 542.881 - - 2 1 1 SAMSN1|CCDS42906.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SAMSN1|ENST00000285670|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 7 3 9 9 30 24 30 24 9 9 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738409166 22 19331409 A AG 300 PASS HIRA CCDS13759.1 r.? - - Ins intronic I 19331409 19331410 1 6 254.943 - - 0 1 1 HIRA|CCDS13759.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HIRA|CCDS13759.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 0 5 2 6 36 26 36 26 2 6 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738411425 22 24242449 TAAAC T 503 PASS ENSG00000218537 ENST00000406213 r.? - - Del upstream D 24242449 24242456 4 40 654.61 - - 1 1 1 ENSG00000218537|ENST00000406213|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000218537|ENST00000406213|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 22 11 22 11 0 0 ./. 9 3 10 7 41 44 41 44 10 7 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738420263 3 2470663 C CT 600 PASS CNTN4 CCDS43041.1 r.? - - Ins intronic I 2470663 2470670 1 35 532.642 - - 6 1 1 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CNTN4|CCDS43041.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 24 23 25 0 0 ./. 6 4 9 7 22 30 22 30 9 7 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738421829 3 6286832 G GT 420 PASS - - - - - Ins - I 6286832 6286841 1 18 372.849 - - 8 1 1 - - ./. 0 0 0 0 19 13 19 14 0 0 ./. 5 2 8 6 21 20 21 20 8 6 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738428219 3 25269907 TC T 1020 PASS RARB ENST00000404969 r.? - - Del intronic D 25269907 25269910 1 88 912.716 - - 2 1 1 RARB|ENST00000404969|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RARB|ENST00000404969|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 19 19 19 0 0 ./. 7 10 11 11 25 29 25 29 11 11 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738431076 3 34202923 GTAT G 420 PASS - - - - - Del - D 34202923 34202934 3 20 377.064 - - 3 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 3 5 4 26 19 26 19 5 4 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738466462 3 142141184 TA T 420 PASS XRN1 CCDS3123.1 r.? - - Del intronic D 142141184 142141193 1 20 377.064 - - 8 1 1 XRN1|CCDS3123.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XRN1|CCDS3123.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 21 25 21 0 0 ./. 4 3 7 5 31 21 31 21 7 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738466578 3 142476910 AT A 300 PASS TRPC1 CCDS3126.1 r.? - - Del intronic D 142476910 142476920 1 10 269.331 - - 9 1 1 TRPC1|CCDS3126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPC1|CCDS3126.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 4 1 4 1 32 18 32 18 4 1 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738479650 3 182101177 C CA 480 PASS - - - - - Ins - I 182101177 182101187 1 24 418.889 - - 9 1 - - - ./. 0 0 0 0 13 18 13 19 0 0 ./. 3 5 4 11 23 30 23 30 4 11 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738485748 3 197765171 T TG 660 PASS LMLN CCDS3332.1 r.? - - Ins intronic I 197765171 197765176 1 42 583.498 - - 4 1 1 LMLN|CCDS3332.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LMLN|CCDS3332.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 22 17 23 0 0 ./. 6 5 9 11 27 33 27 33 9 11 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738486833 4 2630767 GAC G 794 PASS FAM193A CCDS33943.1 r.? - - Del intronic D 2630767 2630771 2 63 750.13 - - 1 1 1 FAM193A|CCDS33943.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 FAM193A|CCDS33943.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 6 8 10 10 25 26 25 26 10 10 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738496710 4 31752849 G GAGTC 869 PASS - - - - - Ins - I 31752849 31752850 4 66 769.651 - - 0 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 10 5 10 7 26 20 26 20 10 7 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738496967 4 32487899 T TA 300 PASS - - - - - Ins - I 32487899 32487909 1 10 262.571 - - 9 1 1 - - ./. 0 0 0 0 18 8 19 8 0 0 ./. 4 1 4 1 28 31 29 32 4 1 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738508598 4 65515220 A AT 720 PASS - - - - - Ins - I 65515220 65515227 1 49 638.238 - - 6 1 1 - - ./. 0 0 0 0 22 11 22 11 0 0 ./. 6 6 6 6 44 26 44 26 6 6 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738521117 4 103827696 CAAT C 251 PASS NHEDC1 CCDS34041.1 r.1331_1333delAUU c.1189_1191delATT p.I397delI Del inframe D 103827696 103827701 3 18 915.259 - - 1 1 1 NHEDC1|CCDS34041.1|r.1331_1333delAUU|c.1189_1191delATT|p.I397delI|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 NHEDC1|CCDS34041.1|r.1331_1333delAUU|c.1189_1191delATT|p.I397delI|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 24 7 24 7 0 0 ./. 17 0 18 0 58 20 58 20 18 0 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738527053 4 122147394 AAG A 300 PASS TNIP3 ENST00000509841 r.? - - Del intronic D 122147394 122147411 2 12 269.194 - - 8 1 1 TNIP3|ENST00000509841|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNIP3|ENST00000509841|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 21 14 21 0 0 ./. 2 3 2 3 20 31 20 31 2 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738535943 4 150645622 TTCTC T 569 PASS - - - - - Del - D 150645622 150645636 4 20 538.388 - - 6 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 9 1 12 2 38 18 38 18 12 2 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738546577 4 179983124 AG A 809 PASS - - - - - Del - D 179983124 179983128 1 48 753.742 - - 3 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 11 5 15 14 33 14 33 5 15 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738549685 4 187062345 G GT 540 PASS FAM149A CCDS34117.1 r.? - - Ins upstream I 187062345 187062353 1 28 476.12 - - 7 1 1 FAM149A|CCDS34117.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 FAM149A|ENST00000356371|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 16 8 16 0 0 ./. 3 6 5 9 23 28 23 28 5 9 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738557453 5 14717781 CAG C 840 PASS ANKH CCDS3885.1 r.? - - Del intronic D 14717781 14717786 2 64 754.336 - - 2 1 1 ANKH|CCDS3885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKH|CCDS3885.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 7 7 7 8 19 29 19 29 7 8 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738567979 5 43383684 T TA 360 PASS CCL28 CCDS3944.1 r.? - - Ins intronic I 43383684 43383694 1 15 319.331 - - 9 1 1 CCL28|CCDS3944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CCL28|CCDS3944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 2 4 2 4 36 28 36 28 2 4 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738585108 5 100488856 A AGAAT 747 PASS - - - - - Ins - I 100488856 100488862 4 48 721.223 - - 1 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 11 3 13 4 35 19 36 19 13 4 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738587022 5 106942283 C CAG 329 PASS EFNA5 CCDS4097.1 r.? - - Ins intronic I 106942283 106942288 2 12 304.881 - - 2 1 - EFNA5|CCDS4097.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EFNA5|CCDS4097.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 1 5 3 6 25 19 25 19 3 6 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738590266 5 117827106 TACAG T 718 PASS ENSG00000232769 ENST00000428465 r.? - - Del intronic D 117827106 117827114 4 54 700.412 - - 1 1 1 ENSG00000232769|ENST00000428465|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000232769|ENST00000428465|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 5 8 8 10 23 25 23 25 8 10 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738590680 5 118958372 G GT 300 PASS - - - - - Ins - I 118958372 118958379 1 12 266.611 - - 6 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 3 2 4 5 26 28 27 28 4 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738591557 5 121927618 ATTACACAGCCCTTCACTCT A 493 PASS - - - - - Del - D 121927618 121927638 19 60 916.109 - - 1 1 1 - - ./. 0 0 0 0 2 12 2 12 0 0 ./. 3 14 3 14 16 37 16 37 3 14 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738592680 5 125367655 TA T 540 PASS - - - - - Del - D 125367655 125367662 1 30 482.307 - - 6 1 1 - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 4 5 6 5 28 25 28 25 6 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738593012 5 126112177 T TA 780 PASS LMNB1 CCDS4140.1 r.? - - Ins upstream I 126112177 126112179 1 54 692.585 - - 1 1 1 LMNB1|CCDS4140.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 LMNB1|CCDS4140.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 18 18 18 18 0 0 ./. 8 5 12 7 33 18 33 18 12 7 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738595039 5 133492578 ACTTTTTATT A 435 PASS SKP1 CCDS4171.1 r.1513_1521delAAUAAAAAG c.? p.? Del 3'UTR variant D 133492578 133492588 9 70 808.863 - - 1 1 1 SKP1|CCDS4171.1|r.1513_1521delAAUAAAAAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 SKP1|CCDS4171.1|r.1513_1521delAAUAAAAAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 20 23 20 23 0 0 ./. 9 6 11 9 26 27 26 27 11 9 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738610478 5 178537463 T TA 689 PASS ADAMTS2 CCDS4444.1 r.? - - Ins downstream I 178537463 178537472 1 45 639.865 - - 8 1 1 ADAMTS2|CCDS4444.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ADAMTS2|CCDS4444.1|r.?|-|-|protein_coding:insertion:500B_downstream_variant|SO:0000010:SO:0000667:SO:0001634 ./. 0 0 0 0 24 14 25 14 0 0 ./. 4 8 7 9 35 32 35 32 7 9 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738625286 6 34378184 TCAAA T 689 PASS - - - - - Del - D 34378184 34378209 4 49 646.979 - - 6 1 - - - ./. 0 0 0 0 14 22 14 22 0 0 ./. 6 6 6 6 27 28 27 28 6 6 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738660420 6 141289217 T TA 360 PASS - - - - - Ins - I 141289217 141289224 1 16 319.877 - - 6 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 3 3 4 5 21 24 21 24 4 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738677751 7 18312865 C CT 538 PASS HDAC9 ENST00000433709 r.? - - Ins intronic I 18312865 18312873 1 35 528.143 - - 7 1 1 HDAC9|ENST00000433709|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 HDAC9|ENST00000433709|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 4 10 6 25 14 26 14 10 6 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738685512 7 39835678 CAT C 444 PASS - - - - - Del - D 39835678 39835681 2 13 642.562 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 12 0 17 0 54 17 54 17 17 0 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738693548 7 62523473 A AG 258 PASS - - - - - Ins - I 62523473 62523476 1 11 532.96 - - 2 1 1 - - ./. 0 0 0 0 20 22 21 22 0 0 ./. 10 0 10 0 37 32 37 32 10 0 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738713516 7 111577497 T TA 300 PASS DOCK4 CCDS47688.1 r.? - - Ins intronic I 111577497 111577507 1 6 265.878 - - 9 1 1 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOCK4|CCDS47688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 0 5 0 5 37 46 37 47 0 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738722154 7 135923306 CA C 480 PASS - - - - - Del - D 135923306 135923312 1 25 422.153 - - 5 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 4 4 6 4 18 21 18 21 6 4 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738723622 7 139546685 GT G 300 PASS TBXAS1 CCDS5855.1 r.? - - Del intronic D 139546685 139546687 1 6 265.878 - - 1 1 1 TBXAS1|CCDS5855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBXAS1|CCDS5855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 23 15 23 0 0 ./. 5 0 5 0 29 32 29 32 5 0 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738728211 7 152048289 AAGTAT A 958 PASS BAGE3 CCDS5931.1 r.? - - Del intronic D 152048289 152048304 5 78 913.257 - - 2 1 1 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 18 22 18 0 0 ./. 5 12 7 15 19 37 19 37 7 15 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738735630 8 14751226 TG T 660 PASS SGCZ CCDS5992.2 r.? - - Del intronic D 14751226 14751228 1 40 592.75 - - 1 1 1 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 11 27 11 0 0 ./. 4 7 6 8 13 12 13 12 6 8 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738736448 8 17429291 TGGGA T 418 PASS SLC7A2 CCDS6002.2 r.? - - Del downstream D 17429291 17429298 4 24 429.887 - - 1 1 1 SLC7A2|CCDS6002.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PDGFRL|CCDS6003.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 18 7 18 7 0 0 ./. 5 3 6 3 16 7 16 7 6 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738760717 8 83293946 GCT G 360 PASS - - - - - Del - D 83293946 83293965 2 15 322.716 - - 9 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 4 2 4 3 63 41 63 41 4 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738764759 8 93611505 TA T 300 PASS - - - - - Del - D 93611505 93611508 1 12 268.228 - - 2 1 1 - - ./. 0 0 0 0 14 26 14 26 0 0 ./. 3 2 5 2 48 38 48 38 5 2 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738770871 8 105929457 AAC A 269 PASS - - - - - Del - D 105929457 105929475 2 12 264.013 - - 8 1 - - - ./. 0 0 0 0 17 23 17 23 0 0 ./. 3 2 3 3 40 47 40 47 3 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738773161 8 111473945 AAG A 300 PASS - - - - - Del - D 111473945 111473964 2 12 269.432 - - 9 1 - - - ./. 0 0 0 0 22 17 22 17 0 0 ./. 2 3 3 3 46 56 46 56 3 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738773503 8 112381289 C CT 300 PASS - - - - - Ins - I 112381289 112381299 1 12 265.82 - - 9 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 3 2 3 3 56 51 57 52 3 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738775514 8 117261545 TA T 360 PASS AF130342.1 ENST00000505156 r.? - - Del intronic D 117261545 117261555 1 16 323.318 - - 9 1 1 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AF130342.1|ENST00000505156|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 3 3 3 3 57 43 57 43 3 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738775866 8 117947335 C CT 300 PASS C8orf85 CCDS34935.1 r.? - - Ins upstream I 117947335 117947345 1 10 264.615 - - 9 1 1 C8orf85|CCDS34935.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 C8orf85|CCDS34935.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 19 10 19 10 0 0 ./. 1 4 1 4 44 50 44 51 1 4 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738777817 8 122320288 GGT G 300 PASS - - - - - Del - D 122320288 122320305 2 12 268.83 - - 8 1 - - - ./. 0 0 0 0 24 19 24 19 0 0 ./. 3 2 3 3 48 55 48 55 3 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738790916 9 7303625 GAC G 269 PASS - - - - - Del - D 7303625 7303640 2 6 266.114 - - 7 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 0 5 0 5 27 29 27 29 0 5 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738799146 9 32183371 AAG A 300 PASS - - - - - Del - D 32183371 32183388 2 12 270.329 - - 8 1 1 - - ./. 0 0 0 0 28 3 28 3 0 0 ./. 3 2 2 2 43 22 43 22 3 2 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738805056 9 68703185 CA C 250 PASS - - - - - Del - D 68703185 68703187 1 11 539.453 - - 1 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 10 0 14 0 111 2 111 2 14 0 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738816026 9 100189082 T TA 720 PASS TDRD7 CCDS6725.1 r.? - - Ins intronic I 100189082 100189085 1 49 638.553 - - 2 1 1 TDRD7|CCDS6725.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TDRD7|CCDS6725.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 23 23 23 0 0 ./. 6 6 6 9 16 30 16 30 6 9 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738822319 9 117962377 GGT G 300 PASS DEC1 CCDS6812.1 r.? - - Del intronic D 117962377 117962394 2 12 270.329 - - 8 1 - DEC1|CCDS6812.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DEC1|CCDS6812.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 2 3 2 3 23 18 23 18 2 3 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738825368 9 127110349 CT C 720 PASS NEK6 CCDS48015.1 r.? - - Del intronic D 127110349 127110351 1 45 647.584 - - 1 1 1 NEK6|CCDS48015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEK6|CCDS48015.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 8 4 9 4 28 15 28 15 9 4 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738832222 X 10853765 A AT 780 PASS MID1 CCDS14138.1 r.? - - Ins upstream I 10853765 10853775 1 54 693.924 - - 9 1 1 MID1|CCDS14138.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 MID1|CCDS14138.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 10 12 10 12 0 0 ./. 8 5 8 10 20 21 21 21 8 10 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738853848 Y 13707103 AAATGG A 311 PASS - - - - - Del - D 13707103 13707125 5 80 1039.9 - - 4 1 1 - - ./. 0 0 0 0 49 16 49 20 0 0 ./. 4 15 8 27 62 67 62 67 8 27 1 1 1 1 1 1 1 1 2725399 PD20341a PD20341b 2738853918 Y 14610880 G GATAC 269 PASS - - - - - Ins - I 14610880 14610920 4 10 262.251 - - 9 1 - - - ./. 0 0 0 0 9 2 9 2 0 0 ./. 4 1 7 2 19 6 19 6 7 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736123656 1 61277881 AG A 960 PASS - - - - - Del - D 61277881 61277884 1 65 859.677 - - 2 1 1 - - ./. 0 0 0 0 18 19 18 19 0 0 ./. 12 4 13 4 33 30 33 30 13 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736123963 1 62041912 TTATTGCATC T 446 PASS - - - - - Del - D 62041912 62041926 9 88 913.407 - - 1 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 7 10 8 13 34 42 34 42 8 13 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736127050 1 69648404 AAAAACAAATACAATGTTT A 290 PASS - - - - - Del - D 69648404 69648425 18 36 537.298 - - 1 1 1 - - ./. 0 0 0 0 22 15 22 15 0 0 ./. 5 5 4 4 32 32 33 33 5 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736129093 1 75606314 C CA 300 PASS LHX8 CCDS30756.1 r.? - - Ins intronic I 75606314 75606323 1 12 265.639 - - 8 1 1 LHX8|CCDS30756.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LHX8|CCDS30756.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 17 23 18 0 0 ./. 3 2 3 2 25 27 27 27 3 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736130871 1 80944779 ATTAG A 360 PASS - - - - - Del - D 80944779 80944786 4 16 321.777 - - 1 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 3 3 3 4 29 28 29 28 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736131317 1 82115995 AC A 480 PASS LPHN2 ENST00000370728 r.? - - Del intronic D 82115995 82115998 1 21 429.839 - - 2 1 1 LPHN2|ENST00000370728|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPHN2|ENST00000370728|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 2 6 4 7 30 19 30 19 4 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736134351 1 90743954 GTTCCAAGTATTTCAGGGCTGGGAAAACCAACCAAGT G 348 PASS - - - - - Del - D 90743954 90743994 36 40 644.758 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 3 9 0 4 11 25 14 30 3 9 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736137101 1 98428513 ACTTT A 358 PASS - - - - - Del - D 98428513 98428520 4 18 376.109 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 2 5 6 25 19 25 19 5 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736137941 1 100946214 GTTTTTGTTTA G 609 PASS CDC14A CCDS769.1 r.? - - Del intronic D 100946214 100946229 10 126 1127.72 - - 1 1 1 CDC14A|CCDS769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC14A|CCDS769.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 8 13 8 13 26 33 26 33 8 13 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736148037 1 146608967 A AT 300 PASS - - - - - Ins - I 146608967 146608977 1 12 265.037 - - 9 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 3 2 2 2 39 23 39 24 3 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736149875 1 150907120 AAG A 269 PASS SETDB1 CCDS972.1 r.? - - Del intronic D 150907120 150907124 2 12 268.649 - - 1 1 1 SETDB1|CCDS972.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SETDB1|CCDS972.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 14 23 14 0 0 ./. 3 2 3 2 38 26 38 26 3 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736152590 1 157418143 GATGGTGTTTGTTTC GTCAAT 435 PASS - - - - - Complex - DI 157418144 157418157 14 70 0 - - 0 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 9 6 0 0 36 22 37 23 9 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736154562 1 163103887 C CT 420 PASS - - - - - Ins - I 163103887 163103894 1 8 371.894 - - 6 1 1 - - ./. 0 0 0 0 3 22 3 22 0 0 ./. 0 7 0 8 23 42 24 42 0 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736159151 1 174983058 AT A 360 PASS MRPS14 CCDS1316.1 r.1150delA c.? p.? Del 3'UTR variant D 174983058 174983064 1 15 322.379 - - 5 1 1 MRPS14|CCDS1316.1|r.1150delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 MRPS14|CCDS1316.1|r.1150delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 10 16 10 16 0 0 ./. 4 2 5 3 38 29 38 29 5 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736159209 1 175129490 TTG T 300 PASS - - - - - Del - D 175129490 175129506 2 12 268.649 - - 7 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 2 3 31 39 31 39 2 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736161342 1 180547221 AGCG A 449 PASS - - - - - Del - D 180547221 180547227 3 24 429.839 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 5 3 6 6 35 28 35 28 6 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736165665 1 192275234 TGTCATTATAC T 551 PASS - - - - - Del - D 192275234 192275250 10 110 1020.26 - - 1 1 1 - - ./. 0 0 0 0 12 15 12 15 0 0 ./. 10 9 11 10 32 32 32 32 11 10 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736165784 1 192629325 TG T 600 PASS RGS13 CCDS1376.1 r.1441delG c.? p.? Del 3'UTR variant D 192629325 192629327 1 36 537.298 - - 1 1 1 RGS13|CCDS1376.1|r.1441delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 RGS13|CCDS1376.1|r.1441delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 16 20 16 20 0 0 ./. 5 5 10 7 37 38 37 38 10 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736166061 1 193330304 A AT 360 PASS - - - - - Ins - I 193330304 193330314 1 16 313.348 - - 9 1 1 - - ./. 0 0 0 0 17 17 17 17 0 0 ./. 3 3 3 3 54 36 54 37 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736166846 1 195123178 AT A 840 PASS - - - - - Del - D 195123178 195123186 1 55 751.615 - - 7 1 - - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 10 4 13 13 38 32 38 32 13 13 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736170365 1 203285677 AAATAAATGGAG A 377 PASS - - - - - Del - D 203285677 203285691 11 54 697.886 - - 1 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 8 5 9 5 45 34 45 34 9 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736170370 1 203289020 CT C 420 PASS - - - - - Del - D 203289020 203289022 1 18 370.69 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 5 3 6 31 42 31 42 3 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736172699 1 209011075 C CA 809 PASS - - - - - Ins - I 209011075 209011085 1 39 737.166 - - 9 1 1 - - ./. 0 0 0 0 26 12 26 12 0 0 ./. 2 12 4 12 29 54 29 54 4 12 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736173749 1 211589640 CCAGGCTT C 261 PASS - - - - - Del - D 211589640 211589651 7 24 483.568 - - 1 1 1 - - ./. 0 0 0 0 29 14 29 14 0 0 ./. 7 2 8 2 50 22 50 22 8 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736174507 1 213074455 C CCT 420 PASS FLVCR1 CCDS1510.1 r.? - - Ins downstream I 213074455 213074456 2 18 367.078 - - 0 1 1 FLVCR1|CCDS1510.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 FLVCR1|CCDS1510.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 19 17 19 17 0 0 ./. 5 2 0 0 48 26 50 26 5 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736176555 1 218289678 GTTACCATTT G 319 PASS - - - - - Del - D 218289678 218289689 9 36 589.824 - - 1 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 8 4 9 29 23 29 23 4 9 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736176608 1 218397556 G GT 300 PASS - - - - - Ins - I 218397556 218397565 1 10 256.006 - - 8 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 1 4 2 6 33 33 34 33 2 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736176981 1 219309060 TTCAA T 507 PASS - - - - - Del - D 219309060 219309069 4 36 537.298 - - 2 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 5 6 7 43 35 43 35 6 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736177975 1 221770522 T TA 360 PASS - - - - - Ins - I 221770522 221770532 1 15 318.767 - - 9 1 1 - - ./. 0 0 0 0 17 18 17 18 0 0 ./. 2 4 3 5 48 54 48 55 3 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736180100 1 226458882 ACTTCT A 685 PASS LIN9 CCDS1553.1 r.? - - Del intronic D 226458882 226458890 5 63 749.207 - - 1 1 1 LIN9|CCDS1553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LIN9|CCDS1553.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 8 18 8 0 0 ./. 6 8 8 11 34 45 34 45 8 11 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736180410 1 227219689 ACTACAAGT A 464 PASS CDC42BPA CCDS1558.1 r.? - - Del intronic D 227219689 227219700 8 81 851.248 - - 1 1 1 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC42BPA|CCDS1558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 8 8 9 7 30 33 30 34 9 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736180864 1 228254991 TGTGTGGCTGGGAAAA T 551 PASS - - - - - Del - D 228254991 228255010 15 98 1019.66 - - 1 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 13 6 13 6 49 28 49 28 13 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736183389 1 234797577 T TA 840 PASS - - - - - Ins - I 234797577 234797578 1 48 742.585 - - 0 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 11 3 11 4 38 24 38 24 11 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736186898 1 241581594 AG A 360 PASS - - - - - Del - D 241581594 241581597 1 15 322.379 - - 2 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 2 4 3 4 22 41 22 41 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736192443 10 5138905 TA T 300 PASS AKR1C3 CCDS7063.1 r.? - - Del intronic D 5138905 5138910 1 12 269.754 - - 4 1 1 AKR1C3|CCDS7063.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AKR1C3|CCDS7063.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 2 3 2 4 24 25 24 25 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736193972 10 8362971 CAA C 480 PASS - - - - - Del - D 8362971 8362975 2 25 431.607 - - 3 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 4 4 10 8 28 26 28 26 10 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736197594 10 16444743 GCCTCC GAT 420 PASS - - - - - Complex - DI 16444744 16444748 5 18 0 - - 0 1 1 - - ./. 0 0 0 0 10 19 10 19 0 0 ./. 2 5 0 0 16 22 16 22 2 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736210969 10 55509488 TGGATGAGGG T 290 PASS - - - - - Del - D 55509488 55509502 9 27 538.906 - - 1 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 2 8 2 8 16 30 16 30 2 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736211013 10 55608981 C CT 269 PASS PCDH15 CCDS44404.1 r.? - - Ins intronic I 55608981 55608991 1 12 264.336 - - 9 1 1 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 16 20 16 0 0 ./. 2 3 2 3 32 20 32 20 2 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736211246 10 56158428 C CA 480 PASS PCDH15 CCDS44404.1 r.? - - Ins intronic I 56158428 56158437 1 24 426.79 - - 8 1 1 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 3 5 3 5 18 26 18 26 3 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736212348 10 59276418 TG T 300 PASS - - - - - Del - D 59276418 59276422 1 12 269.754 - - 3 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 4 3 18 29 18 29 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736218318 10 75569585 GGCTCAAGTGATCCTCCCACCTCA G 406 PASS CAMK2G CCDS7338.1 r.? - - Del downstream D 75569585 75569611 23 60 751.097 - - 1 1 1 CAMK2G|CCDS7338.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NDST2|CCDS7335.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 5 9 5 9 21 35 21 35 5 9 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736220691 10 82862576 T TA 300 PASS - - - - - Ins - I 82862576 82862586 1 12 266.744 - - 9 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 2 3 2 5 14 25 14 25 2 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736220711 10 82928059 TTG T 360 PASS - - - - - Del - D 82928059 82928064 2 15 323.705 - - 2 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 2 4 3 5 20 19 20 19 3 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736222191 10 87942946 GT G 269 PASS GRID1 CCDS31236.1 r.? - - Del intronic D 87942946 87942951 1 6 269.754 - - 4 1 1 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRID1|CCDS31236.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 0 5 0 5 7 24 7 24 0 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736222886 10 90138068 AG A 360 PASS RNLS CCDS7388.1 r.? - - Del intronic D 90138068 90138071 1 16 323.103 - - 2 1 1 RNLS|CCDS7388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNLS|CCDS7388.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 8 17 8 0 0 ./. 3 3 4 4 16 24 16 24 4 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736230618 10 113937439 GTCT G 358 PASS GPAM CCDS7570.1 r.? - - Del intronic D 113937439 113937446 3 18 375.85 - - 2 1 1 GPAM|CCDS7570.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPAM|CCDS7570.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 9 19 9 0 0 ./. 2 5 3 6 21 25 21 25 3 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736233840 10 123502276 CA C 720 PASS ATE1 CCDS31299.1 r.2562delU c.? p.? Del 3'UTR variant D 123502276 123502279 1 45 646.206 - - 2 1 1 ATE1|CCDS31299.1|r.2562delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ATE1|CCDS31299.1|r.2562delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 8 4 10 23 25 23 25 4 10 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736238020 11 750331 G GA 300 PASS TALDO1 CCDS7712.1 r.? - - Ins intronic I 750331 750341 1 12 267.087 - - 9 1 1 TALDO1|CCDS7712.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TALDO1|CCDS7712.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 13 22 13 0 0 ./. 2 3 3 3 27 25 27 25 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736238976 11 3593416 CT C 295 PASS - - - - - Del - D 3593416 3593418 1 10 270.098 - - 1 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 1 5 1 28 20 28 20 5 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736245405 11 20371345 ACTT A 269 PASS - - - - - Del - D 20371345 20371351 3 12 270.098 - - 1 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 2 3 2 4 18 29 18 29 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736246124 11 22089765 TA T 300 PASS - - - - - Del - D 22089765 22089769 1 12 270.098 - - 3 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 3 4 4 26 26 26 26 4 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736253892 11 42805280 TG T 360 PASS - - - - - Del - D 42805280 42805283 1 12 322.913 - - 2 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 1 5 1 10 24 34 24 34 1 10 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736259634 11 61971866 G GA 257 PASS SCGB2A1 CCDS8016.1 r.? - - Ins upstream I 61971866 61971875 1 12 254.444 - - 8 1 1 SCGB2A1|CCDS8016.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SCGB2A1|CCDS8016.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 18 28 18 28 0 0 ./. 2 3 3 4 27 28 27 28 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736261016 11 65434510 TA T 420 PASS RELA CCDS31609.1 r.? - - Del upstream D 65434510 65434518 1 18 377.534 - - 7 1 1 RELA|CCDS31609.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RELA|CCDS31609.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 20 24 20 24 0 0 ./. 2 5 3 6 25 31 25 31 3 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736268237 11 86339789 CTT C 360 PASS ME3 CCDS8277.1 r.? - - Del intronic D 86339789 86339793 2 15 324.117 - - 3 1 1 ME3|CCDS8277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ME3|CCDS8277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 4 2 4 2 24 22 24 22 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736269434 11 89442199 CT C 276 PASS TRIM77 ENST00000398290 r.? - - Del upstream D 89442199 89442207 1 12 270.098 - - 7 1 1 TRIM77|ENST00000398290|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 TRIM77|ENST00000398290|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 20 20 20 20 0 0 ./. 3 2 3 2 31 25 31 25 3 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736272056 11 97722918 ATAG A 267 PASS - - - - - Del - D 97722918 97722923 3 15 324.117 - - 1 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 2 5 2 22 23 22 23 5 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736274786 11 104805978 C CA 540 PASS - - - - - Ins - I 104805978 104805987 1 28 480.155 - - 8 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 6 3 6 3 29 26 31 26 6 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736274907 11 105255203 T TA 360 PASS - - - - - Ins - I 105255203 105255210 1 12 320.505 - - 6 1 1 - - ./. 0 0 0 0 27 10 27 10 0 0 ./. 1 5 4 9 22 33 22 33 4 9 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736282813 11 127291353 GT G 360 PASS - - - - - Del - D 127291353 127291360 1 15 324.117 - - 6 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 2 4 3 5 35 31 35 31 3 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736283283 11 128727245 T TC 420 PASS KCNJ1 CCDS8477.1 r.? - - Ins intronic I 128727245 128727249 1 14 373.922 - - 3 1 1 KCNJ1|CCDS8477.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 KCNJ1|CCDS8477.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 1 6 2 6 20 30 20 30 2 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736292742 12 17812991 G GA 480 PASS - - - - - Ins - I 17812991 17812999 1 21 426.934 - - 7 1 1 - - ./. 0 0 0 0 19 9 20 9 0 0 ./. 2 6 3 6 27 27 27 27 3 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736299736 12 38310914 CA C 420 PASS - - - - - Del - D 38310914 38310916 1 20 377.18 - - 1 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 4 3 6 8 33 35 33 35 6 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736300095 12 39273647 T TA 300 PASS CPNE8 CCDS8733.1 r.? - - Ins intronic I 39273647 39273657 1 12 266.834 - - 9 1 1 CPNE8|CCDS8733.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CPNE8|CCDS8733.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 29 11 29 0 0 ./. 3 2 4 2 28 26 28 26 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736307168 12 57842070 TTGGCTGGGCGTGG T 290 PASS INHBC CCDS8938.1 r.? - - Del intronic D 57842070 57842089 13 35 539.689 - - 1 1 1 INHBC|CCDS8938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 INHBC|CCDS8938.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 2 9 2 0 0 ./. 6 4 5 4 42 16 43 16 6 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736308483 12 61652018 GAT G 300 PASS - - - - - Del - D 61652018 61652033 2 10 269.844 - - 7 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 4 1 4 33 42 33 42 1 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736310334 12 65817210 AG A 697 PASS MSRB3 CCDS31853.1 r.? - - Del intronic D 65817210 65817212 1 45 647.626 - - 1 1 1 MSRB3|CCDS31853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSRB3|CCDS31853.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 19 24 19 0 0 ./. 8 4 8 4 41 32 41 32 8 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736313439 12 73350952 TTTTCTGAGTTTTGCA T 464 PASS - - - - - Del - D 73350952 73350969 15 80 862.298 - - 1 1 1 - - ./. 0 0 0 0 15 7 15 7 0 0 ./. 9 7 11 10 33 32 33 32 11 10 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736314567 12 76394340 A AT 1260 PASS - - - - - Ins - I 76394340 76394343 1 126 1115.89 - - 2 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 8 13 13 20 24 43 24 43 13 20 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736317473 12 84729021 AAGCCAACC A 580 PASS - - - - - Del - D 84729021 84729030 8 121 1069.14 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 10 10 11 10 28 25 28 25 11 10 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736323632 12 100094370 A AT 420 PASS ANKS1B ENST00000329257 r.? - - Ins intronic I 100094370 100094379 1 20 372.966 - - 8 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 4 3 6 6 49 37 49 37 6 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736326072 12 106145488 ACAAGAC A 433 PASS - - - - - Del - D 106145488 106145496 6 65 863.502 - - 1 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 12 4 16 7 43 30 43 30 16 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736328027 12 110850613 GA G 540 PASS - - - - - Del - D 110850613 110850617 1 28 485.72 - - 3 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 6 4 8 35 45 35 45 4 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736329768 12 115249077 ACCCAAGTGT A 484 PASS - - - - - Del - D 115249077 115249089 9 156 1239.48 - - 1 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 11 12 12 13 37 28 37 28 12 13 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736330253 12 116425488 AG A 300 PASS MED13L CCDS9177.1 r.? - - Del intronic D 116425488 116425491 1 10 269.844 - - 2 1 1 MED13L|CCDS9177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MED13L|CCDS9177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 20 19 20 0 0 ./. 4 1 4 1 30 34 30 34 4 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736331689 12 119375834 CTGGGCCATCAAGG C 522 PASS - - - - - Del - D 119375834 119375850 13 99 971.44 - - 1 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 10 8 11 9 22 22 22 22 11 9 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736331914 12 119929810 AGATGTTCTACCAT A 551 PASS CCDC60 CCDS9190.1 r.? - - Del intronic D 119929810 119929826 13 108 1023.6 - - 1 1 1 CCDC60|CCDS9190.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC60|CCDS9190.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 11 8 10 8 21 23 22 23 11 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736332085 12 120276502 A AT 360 PASS CIT CCDS9192.1 r.? - - Ins intronic I 120276502 120276510 1 15 319.599 - - 7 1 1 CIT|CCDS9192.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CIT|CCDS9192.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 15 0 0 ./. 2 4 3 6 36 37 37 37 3 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736340791 13 22358686 A AT 300 PASS - - - - - Ins - I 22358686 22358696 1 12 268.096 - - 9 1 1 - - ./. 0 0 0 0 16 17 16 17 0 0 ./. 2 3 2 4 22 28 22 28 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736341091 13 23265952 AC A 360 PASS ENSG00000223616 ENST00000419468 r.? - - Del intronic D 23265952 23265955 1 15 324.124 - - 2 1 1 ENSG00000223616|ENST00000419468|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000223616|ENST00000419468|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 2 4 3 26 24 26 24 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736346427 13 37863968 AGGAG A 329 PASS - - - - - Del - D 37863968 37863976 4 7 325.328 - - 1 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 0 6 0 19 19 19 19 6 0 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736346834 13 39053442 AT A 480 PASS - - - - - Del - D 39053442 39053451 1 24 433.77 - - 8 1 - - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 3 5 7 6 22 19 22 19 7 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736348361 13 43633284 G GT 300 PASS DNAJC15 CCDS9388.1 r.? - - Ins intronic I 43633284 43633292 1 10 267.494 - - 7 1 1 DNAJC15|CCDS9388.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAJC15|CCDS9388.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 25 17 25 0 0 ./. 1 4 2 4 13 22 13 22 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736353881 13 62444178 ACTG A 360 PASS - - - - - Del - D 62444178 62444184 3 16 324.726 - - 1 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 3 3 3 4 16 21 16 21 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736356085 13 69247087 AACTCAGTTTTAAGTATC AAATATCATTT 319 PASS - - - - - Complex - DI 69247088 69247104 17 40 0 - - 0 1 1 - - ./. 0 0 0 0 18 10 18 10 0 0 ./. 7 4 0 0 14 16 15 17 7 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736356855 13 71381723 AAT A 277 PASS - - - - - Del - D 71381723 71381727 2 10 270.504 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 1 4 2 5 15 16 15 16 2 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736359133 13 78547805 C CT 360 PASS - - - - - Ins - I 78547805 78547813 1 7 321.715 - - 7 1 1 - - ./. 0 0 0 0 21 22 21 23 0 0 ./. 6 0 7 1 22 14 22 14 7 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736359400 13 79386009 AT A 360 PASS - - - - - Del - D 79386009 79386011 1 15 325.328 - - 1 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 2 5 2 20 16 20 16 5 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736368959 13 109831236 CA C 360 PASS MYO16 CCDS32008.1 r.? - - Del intronic D 109831236 109831240 1 15 325.328 - - 3 1 1 MYO16|CCDS32008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO16|CCDS32008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 2 4 4 12 14 12 14 4 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736370846 14 20242622 ACATACTC A 261 PASS - - - - - Del - D 20242622 20242633 7 30 487.7 - - 1 1 1 - - ./. 0 0 0 0 19 34 19 34 0 0 ./. 5 4 5 4 48 53 48 53 5 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736375784 14 32186703 CT C 960 PASS NUBPL CCDS41940.1 r.? - - Del intronic D 32186703 32186705 1 65 867.023 - - 1 1 1 NUBPL|CCDS41940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUBPL|CCDS41940.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 12 4 13 4 32 19 32 19 13 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736376222 14 33400125 A AT 360 PASS - - - - - Ins - I 33400125 33400133 1 15 321.521 - - 7 1 1 - - ./. 0 0 0 0 22 18 22 18 0 0 ./. 4 2 4 2 25 25 25 25 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736378462 14 39210502 TTC T 360 PASS - - - - - Del - D 39210502 39210507 2 12 325.133 - - 2 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 1 5 1 20 22 20 22 5 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736379324 14 41455970 G GA 360 PASS - - - - - Ins - I 41455970 41455972 1 16 321.521 - - 1 1 1 - - ./. 0 0 0 0 13 4 13 4 0 0 ./. 3 3 4 6 20 11 20 11 4 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736380304 14 44269434 CA C 360 PASS - - - - - Del - D 44269434 44269440 1 15 325.133 - - 5 1 1 - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 2 4 4 7 33 36 33 36 4 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736381862 14 48706370 T TA 420 PASS - - - - - Ins - I 48706370 48706380 1 20 373.302 - - 9 1 1 - - ./. 0 0 0 0 22 15 22 17 0 0 ./. 4 3 4 4 25 29 26 29 4 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736382139 14 49443873 GAGA G 480 PASS - - - - - Del - D 49443873 49443882 3 24 433.511 - - 2 1 1 - - ./. 0 0 0 0 7 23 7 23 0 0 ./. 3 5 3 6 20 35 20 35 3 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736383413 14 52276373 A AT 420 PASS AL079307.3 ENST00000504267 r.3003_3004insu - - Ins non-coding variant I 52276373 52276380 1 18 375.108 - - 6 1 1 AL079307.3|ENST00000504267|r.3003_3004insu|-|-|non_protein_coding:exon:insertion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000667:SO:0001619 AL079307.3|ENST00000504267|r.3003_3004insu|-|-|non_protein_coding:exon:insertion:nc_transcript_variant|SO:0000011:SO:0000147:SO:0000667:SO:0001619 ./. 0 0 0 0 17 14 17 14 0 0 ./. 5 2 6 4 26 27 26 27 6 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736385849 14 58200207 C CT 600 PASS - - - - - Ins - I 58200207 58200217 1 35 535.869 - - 9 1 1 - - ./. 0 0 0 0 30 14 30 15 0 0 ./. 4 6 4 7 25 28 25 29 4 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736391633 14 74288964 TC T 300 PASS - - - - - Del - D 74288964 74288966 1 6 266.128 - - 1 1 1 - - ./. 0 0 0 0 18 8 18 8 0 0 ./. 5 0 7 0 36 22 36 22 7 0 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736395840 14 85148668 G GA 300 PASS - - - - - Ins - I 85148668 85148677 1 12 265.526 - - 8 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 3 2 3 2 25 28 25 30 3 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736395944 14 85408750 A AT 360 PASS - - - - - Ins - I 85408750 85408757 1 16 321.521 - - 6 1 1 - - ./. 0 0 0 0 25 5 25 6 0 0 ./. 3 3 4 6 32 28 32 28 4 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736397287 14 89364671 GTT G 869 PASS - - - - - Del - D 89364671 89364676 2 70 810.425 - - 4 1 1 - - ./. 0 0 0 0 22 13 22 13 0 0 ./. 6 9 10 12 36 25 36 25 10 12 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736398484 14 92442388 G GT 420 PASS TRIP11 CCDS9899.1 r.? - - Ins intronic I 92442388 92442398 1 20 375.108 - - 9 1 1 TRIP11|CCDS9899.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRIP11|CCDS9899.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 4 3 6 3 28 15 30 15 6 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736400838 14 100180369 C CA 300 PASS CYP46A1 CCDS9954.1 r.? - - Ins intronic I 100180369 100180378 1 12 267.934 - - 8 1 1 CYP46A1|CCDS9954.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CYP46A1|CCDS9954.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 2 3 3 26 22 26 22 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736401917 14 103484063 GAC G 420 PASS ENSG00000198752 CCDS9978.1 r.? - - Del intronic D 103484063 103484069 2 20 379.322 - - 2 1 1 ENSG00000198752|CCDS9978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000198752|CCDS9978.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 23 12 23 0 0 ./. 3 4 3 4 22 28 22 28 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736403001 14 106442814 CT C 314 PASS - - - - - Del - D 106442814 106442816 1 16 325.133 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 3 3 4 3 19 15 19 15 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736403871 15 20121011 CA C 279 PASS - - - - - Del - D 20121011 20121015 1 32 542.554 - - 3 1 1 - - ./. 0 0 0 0 48 70 48 70 0 0 ./. 7 3 10 6 181 177 181 179 10 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736409105 15 34816214 G GC 290 PASS GOLGA8B CCDS45211.1 r.? - - Ins downstream I 34816214 34816215 1 11 535.931 - - 0 1 1 GOLGA8B|CCDS45211.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 GOLGA8B|CCDS45211.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 8 8 8 9 0 0 ./. 10 0 14 0 22 12 22 13 14 0 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736412891 15 45906992 CT C 300 PASS - - - - - Del - D 45906992 45906998 1 10 271.277 - - 5 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 1 4 2 18 24 18 24 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736419754 15 65398318 CG C 300 PASS AC013553.1 ENST00000502113 r.? - - Del upstream D 65398318 65398323 1 10 271.277 - - 4 1 1 AC013553.1|ENST00000502113|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 AC013553.1|ENST00000502113|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 27 4 27 4 0 0 ./. 4 1 4 3 26 21 26 21 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736422984 15 75227316 C CA 300 PASS COX5A CCDS10273.1 r.? - - Ins intronic I 75227316 75227323 1 12 268.267 - - 6 1 1 COX5A|CCDS10273.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COX5A|CCDS10273.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 18 12 18 0 0 ./. 3 2 3 3 21 24 21 24 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736425517 15 82314931 A AC 360 PASS - - - - - Ins - I 82314931 82314939 1 15 320.114 - - 7 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 2 4 4 4 30 20 30 20 4 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736428536 15 91065902 CT C 480 PASS - - - - - Del - D 91065902 91065904 1 16 420.196 - - 1 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 7 1 9 2 28 25 28 25 9 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736429873 15 94527591 G GT 300 PASS - - - - - Ins - I 94527591 94527601 1 12 267.665 - - 9 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 2 4 5 28 27 29 27 4 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736430035 15 94926542 T TTA 300 PASS MCTP2 CCDS32338.1 r.? - - Ins intronic I 94926542 94926545 2 10 265.256 - - 1 1 1 MCTP2|CCDS32338.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MCTP2|CCDS32338.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 1 4 2 4 35 24 36 24 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736440815 16 18308998 TGGTG T 356 PASS - - - - - Del - D 18308998 18309005 4 20 377.95 - - 1 1 1 - - ./. 0 0 0 0 10 28 10 28 0 0 ./. 3 4 3 4 22 23 22 23 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736443572 16 24770386 C CA 420 PASS TNRC6A CCDS10624.2 r.? - - Ins intronic I 24770386 24770395 1 14 374.338 - - 8 1 1 TNRC6A|CCDS10624.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TNRC6A|CCDS10624.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 14 27 14 0 0 ./. 6 1 11 2 30 32 30 32 11 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736446610 16 32108432 G GTTAT 261 PASS - - - - - Ins - I 32108432 32108435 4 17 826.902 - - 0 1 1 - - ./. 0 0 0 0 33 34 35 35 0 0 ./. 16 0 16 0 166 86 170 86 16 0 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736447168 16 32604906 CT C 300 PASS - - - - - Del - D 32604906 32604916 1 10 269.018 - - 9 1 1 - - ./. 0 0 0 0 20 36 20 36 0 0 ./. 1 4 2 4 47 57 47 57 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736455774 16 66122094 CG C 420 PASS - - - - - Del - D 66122094 66122096 1 20 379.154 - - 1 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 4 7 6 16 23 16 23 7 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736464083 16 88990904 A AG 660 PASS CBFA2T3 CCDS10972.1 r.? - - Ins intronic I 88990904 88990907 1 30 586.783 - - 2 1 1 CBFA2T3|CCDS10972.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CBFA2T3|CCDS10972.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 9 2 11 3 27 24 27 24 11 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736476413 17 31784110 TAATA T 360 PASS ACCN1 CCDS42296.1 r.? - - Del intronic D 31784110 31784118 4 12 324.962 - - 1 1 1 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACCN1|CCDS42296.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 9 17 9 0 0 ./. 1 5 1 6 30 23 30 23 1 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736478444 17 37378010 CTCACCCTCGCCTCTCAGCTGGGCCCTGCCTGGGCCA C 540 PASS STAC2 CCDS11335.1 r.? - - Del intronic D 37378010 37378055 36 30 487.444 - - 1 1 1 STAC2|CCDS11335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STAC2|CCDS11335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 4 0 0 29 32 32 34 5 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736481648 17 44035497 A ACC 480 PASS MAPT CCDS45715.1 r.? - - Ins intronic I 44035497 44035500 2 16 423.65 - - 2 1 1 MAPT|CCDS45715.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MAPT|CCDS45715.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 1 7 4 7 23 24 23 24 4 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736486369 17 54354956 T TA 300 PASS ANKFN1 CCDS32686.1 r.? - - Ins intronic I 54354956 54354963 1 12 267.792 - - 6 1 1 ANKFN1|CCDS32686.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKFN1|CCDS32686.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 2 4 2 37 31 39 31 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736486505 17 54764284 AGGCAGGAGAAT A 435 PASS - - - - - Del - D 54764284 54764299 11 72 808.192 - - 1 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 7 8 7 8 29 28 29 28 7 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736489069 17 60087528 G GC 300 PASS MED13 CCDS42366.1 r.? - - Ins intronic I 60087528 60087531 1 6 260.567 - - 2 1 1 MED13|CCDS42366.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MED13|CCDS42366.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 16 23 16 0 0 ./. 0 5 2 6 25 42 25 43 2 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736489820 17 61644670 C CA 300 PASS KCNH6 CCDS11638.1 r.? - - Ins intronic I 61644670 61644680 1 10 267.19 - - 9 1 1 KCNH6|CCDS11638.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 KCNH6|CCDS11638.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 13 0 0 ./. 1 4 1 5 43 46 44 46 1 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736490209 17 62626003 TG T 480 PASS SMURF2 CCDS32707.1 r.? - - Del intronic D 62626003 62626010 1 24 433.283 - - 6 1 1 SMURF2|CCDS32707.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMURF2|CCDS32707.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 5 3 5 4 23 29 23 29 5 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736491400 17 65014929 G GAT 960 PASS CACNG4 CCDS11667.1 r.? - - Ins intronic I 65014929 65014936 2 81 844.29 - - 3 1 1 CACNG4|CCDS11667.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CACNG4|CCDS11667.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 8 8 8 9 31 35 32 36 8 9 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736492052 17 66053608 TCA T 360 PASS - - - - - Del - D 66053608 66053625 2 15 324.36 - - 8 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 4 2 4 2 43 26 43 26 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736499224 17 80710339 CCGGCGGCGCCGGC CT 290 PASS TBCD CCDS45818.1 r.? - - Complex intronic DI 80710340 80710352 13 32 0 - - 0 1 1 TBCD|CCDS45818.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 TBCD|CCDS45818.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 22 21 22 21 0 0 ./. 3 7 0 0 50 49 50 49 3 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736502980 18 9053996 ATC A 300 PASS - - - - - Del - D 9053996 9054002 2 6 271.391 - - 2 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 5 0 5 1 24 8 24 8 5 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736507656 18 24778174 TC T 360 PASS - - - - - Del - D 24778174 24778176 1 16 325.669 - - 1 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 3 4 4 20 17 20 17 4 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736517468 18 58791231 GT G 540 PASS - - - - - Del - D 58791231 58791235 1 30 488.504 - - 3 1 1 - - ./. 0 0 0 0 19 15 19 15 0 0 ./. 4 5 6 8 21 27 21 27 6 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736518501 18 61793624 AG A 300 PASS - - - - - Del - D 61793624 61793626 1 12 270.789 - - 1 1 1 - - ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 2 4 2 27 14 27 14 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736544668 19 50602013 TA T 319 PASS - - - - - Del - D 50602013 50602023 1 12 597.088 - - 9 1 1 - - ./. 0 0 0 0 16 0 20 0 0 0 ./. 11 0 17 0 112 0 113 0 17 0 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736548254 19 57728795 C CT 269 PASS ZNF264 CCDS33127.1 r.6743_6744insu c.? p.? Ins 3'UTR variant I 57728795 57728804 1 10 267.791 - - 8 1 1 ZNF264|CCDS33127.1|r.6743_6744insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ZNF264|CCDS33127.1|r.6743_6744insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 15 12 15 12 0 0 ./. 1 4 1 5 34 28 34 29 1 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736555098 2 19638490 G GA 480 PASS - - - - - Ins - I 19638490 19638500 1 25 425.59 - - 9 1 1 - - ./. 0 0 0 0 11 16 13 17 0 0 ./. 4 4 6 4 32 34 33 34 6 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736559843 2 33748098 A AT 300 PASS RASGRP3 CCDS46256.1 r.? - - Ins intronic I 33748098 33748107 1 12 265.391 - - 8 1 1 RASGRP3|CCDS46256.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RASGRP3|CCDS46256.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 14 25 14 0 0 ./. 2 3 9 5 24 17 24 17 9 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736560021 2 34143509 AG A 393 PASS - - - - - Del - D 34143509 34143512 1 20 376.605 - - 2 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 3 4 6 5 23 22 23 22 6 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736565975 2 50627879 G GA 300 PASS NRXN1 CCDS46282.1 r.? - - Ins intronic I 50627879 50627887 1 12 265.391 - - 7 1 1 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRXN1|CCDS46282.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 2 4 2 35 26 35 26 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736572850 2 71436939 CT C 480 PASS PAIP2B CCDS46322.1 r.? - - Del intronic D 71436939 71436944 1 24 429.202 - - 4 1 1 PAIP2B|CCDS46322.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PAIP2B|CCDS46322.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 10 21 10 0 0 ./. 3 5 7 6 33 23 33 23 7 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736575815 2 81751885 GTTTGT G 389 PASS - - - - - Del - D 81751885 81751893 5 18 376.003 - - 1 1 1 - - ./. 0 0 0 0 22 10 22 10 0 0 ./. 5 2 5 2 26 15 26 15 5 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736578868 2 91629614 CA C 298 PASS - - - - - Del - D 91629614 91629619 1 14 697.002 - - 4 1 1 - - ./. 0 0 0 0 60 73 60 73 0 0 ./. 0 13 0 15 59 268 59 268 0 15 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736578936 2 91668740 CT C 399 PASS - - - - - Del - D 91668740 91668743 1 16 807.011 - - 2 1 1 - - ./. 0 0 0 0 58 53 58 53 0 0 ./. 15 0 23 0 107 61 107 61 23 0 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736582539 2 103768910 G GA 300 PASS - - - - - Ins - I 103768910 103768916 1 12 265.391 - - 5 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 2 3 2 5 26 29 26 30 2 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736586929 2 118263901 ATTGGT A 329 PASS - - - - - Del - D 118263901 118263908 5 15 322.805 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 2 5 3 18 16 18 16 5 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736598054 2 153324970 G GT 300 PASS FMNL2 CCDS46429.1 r.? - - Ins intronic I 153324970 153324980 1 12 264.789 - - 9 1 1 FMNL2|CCDS46429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMNL2|CCDS46429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 2 3 2 34 29 34 29 3 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736606036 2 178391853 AT A 360 PASS AGPS CCDS2275.1 r.? - - Del intronic D 178391853 178391863 1 15 322.805 - - 9 1 1 AGPS|CCDS2275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGPS|CCDS2275.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 4 3 6 23 14 23 14 3 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736606875 2 181367879 TTCGTTATATACTTCAAAAATTTATAACAATATAA T 348 PASS - - - - - Del - D 181367879 181367915 34 48 643.803 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 7 5 6 4 18 17 19 18 7 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736609337 2 189571380 AC A 420 PASS - - - - - Del - D 189571380 189571385 1 18 376.605 - - 4 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 2 10 4 31 19 31 19 10 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736614733 2 205776641 T TA 300 PASS PARD3B CCDS42806.1 r.? - - Ins intronic I 205776641 205776650 1 10 265.994 - - 8 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 14 21 14 0 0 ./. 1 4 5 4 21 35 23 35 5 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736614893 2 206261773 ATAAT A 269 PASS PARD3B CCDS42806.1 r.? - - Del intronic D 206261773 206261781 4 12 268.402 - - 1 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 20 8 20 0 0 ./. 2 3 3 3 19 19 19 19 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736627998 20 1558451 GCCCTGGA G 421 PASS SIRPB1 CCDS13019.1 r.? - - Del intronic D 1558451 1558460 7 70 814.64 - - 1 1 1 SIRPB1|CCDS13019.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SIRPB1|CCDS13019.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 9 6 12 7 29 23 29 23 12 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736630653 20 8053052 G GT 269 PASS - - - - - Ins - I 8053052 8053062 1 12 265.526 - - 9 1 1 - - ./. 0 0 0 0 25 17 26 17 0 0 ./. 3 2 3 4 39 38 39 38 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736634510 20 19463904 TACTA T 360 PASS SLC24A3 CCDS13140.1 r.? - - Del intronic D 19463904 19463915 4 15 324.05 - - 2 1 1 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC24A3|CCDS13140.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 22 8 22 0 0 ./. 2 4 2 4 24 22 24 22 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736638888 20 31097630 AG A 389 PASS C20orf112 ENST00000419612 r.267delC c.? p.? Del 3'UTR variant D 31097630 31097636 1 20 379.563 - - 5 1 1 C20orf112|ENST00000419612|r.267delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 C20orf112|ENST00000419612|r.267delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 4 5 5 36 14 36 14 5 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736640311 20 34877874 AT A 300 PASS - - - - - Del - D 34877874 34877880 1 12 271.547 - - 5 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 2 3 4 4 26 35 26 35 4 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736642972 20 42570338 TA T 360 PASS TOX2 CCDS42875.1 r.? - - Del upstream D 42570338 42570341 1 12 323.448 - - 2 1 1 TOX2|CCDS42875.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TOX2|CCDS13324.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 17 18 17 0 0 ./. 5 1 5 1 35 30 35 30 5 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736647809 20 52813186 T TC 360 PASS - - - - - Ins - I 52813186 52813194 1 16 322.244 - - 7 1 1 - - ./. 0 0 0 0 17 20 18 20 0 0 ./. 3 3 5 3 49 32 49 32 5 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736654209 21 10797343 A ATTTAC 312 PASS ENSG00000232449 ENST00000456599 r.? - - Ins downstream I 10797343 10797345 5 48 616.455 - - 0 1 1 ENSG00000232449|ENST00000456599|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000232449|ENST00000456599|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 50 56 50 56 0 0 ./. 5 7 0 0 130 97 130 98 5 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736672272 22 24604552 AT A 269 PASS - - - - - Del - D 24604552 24604555 1 10 259.814 - - 2 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 1 4 3 5 23 21 23 21 3 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736679425 22 44101191 ACAGATCATC A 261 PASS EFCAB6 CCDS14049.1 r.? - - Del intronic D 44101191 44101206 9 30 488.496 - - 1 1 1 EFCAB6|CCDS14049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EFCAB6|CCDS14049.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 5 4 6 5 20 18 20 18 6 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736684901 3 8694132 CATGTCTACCCAGACTGTCTTCT C 261 PASS C3orf32 CCDS2568.1 r.? - - Del intronic D 8694132 8694157 22 28 485.18 - - 1 1 1 C3orf32|CCDS2568.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C3orf32|CCDS2568.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 3 6 3 24 19 24 19 6 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736688691 3 19963077 T TG 420 PASS EFHB CCDS33715.2 r.? - - Ins intronic I 19963077 19963085 1 18 369.536 - - 7 1 1 EFHB|CCDS33715.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EFHB|CCDS33715.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 5 2 6 2 19 21 20 22 6 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736689678 3 22327167 TC T 418 PASS - - - - - Del - D 22327167 22327174 1 24 431.271 - - 6 1 1 - - ./. 0 0 0 0 16 19 16 19 0 0 ./. 3 5 5 5 28 22 28 22 5 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736691820 3 29344015 A AT 300 PASS RBMS3 CCDS33725.1 r.? - - Ins intronic I 29344015 29344016 1 12 266.534 - - 0 1 1 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBMS3|CCDS33725.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 21 14 21 0 0 ./. 2 3 2 5 23 25 23 25 2 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736698608 3 50598533 GCC G 780 PASS C3orf18 CCDS2829.1 r.? - - Del intronic D 50598533 50598537 2 54 700.816 - - 3 1 1 C3orf18|CCDS2829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C3orf18|CCDS2829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 5 8 6 9 18 20 18 20 6 9 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736702063 3 61184208 T TTG 298 PASS FHIT CCDS2894.1 r.? - - Ins intronic I 61184208 61184209 2 12 316.229 - - 0 1 1 FHIT|CCDS2894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 FHIT|CCDS2894.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 5 1 0 0 24 18 24 18 5 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736703032 3 64042130 AAC A 300 PASS - - - - - Del - D 64042130 64042146 2 12 269.544 - - 7 1 - - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 3 2 4 2 27 22 27 22 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736708604 3 78667759 T TA 300 PASS ROBO1 CCDS46872.1 r.? - - Ins intronic I 78667759 78667768 1 12 266.534 - - 8 1 1 ROBO1|CCDS46872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROBO1|CCDS46872.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 3 2 6 2 25 22 25 22 6 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736710389 3 84723802 AG A 420 PASS - - - - - Del - D 84723802 84723805 1 14 377.362 - - 2 1 1 - - ./. 0 0 0 0 18 16 18 16 0 0 ./. 1 6 2 7 20 22 20 22 2 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736710647 3 85564008 AG A 360 PASS CADM2 ENST00000383699 r.? - - Del intronic D 85564008 85564010 1 16 322.851 - - 1 1 1 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CADM2|ENST00000383699|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 9 22 9 0 0 ./. 3 3 6 5 25 24 25 24 6 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736711457 3 88119114 G GT 300 PASS CGGBP1 CCDS43111.1 r.? - - Ins intronic I 88119114 88119122 1 12 266.534 - - 7 1 1 CGGBP1|CCDS43111.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CGGBP1|CCDS43111.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 12 11 0 0 ./. 2 3 2 4 23 25 23 25 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736712874 3 95554621 CT C 540 PASS - - - - - Del - D 95554621 95554626 1 18 485.18 - - 4 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 8 1 10 2 25 10 25 10 10 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736717637 3 110938621 TC T 480 PASS PVRL3 ENST00000485506 r.? - - Del intronic D 110938621 110938627 1 24 428.863 - - 5 1 1 PVRL3|ENST00000485506|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PVRL3|ENST00000485506|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 5 3 5 3 33 24 33 24 5 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736717756 3 111357313 GA G 300 PASS CD96 CCDS2959.1 r.? - - Del intronic D 111357313 111357319 1 12 269.544 - - 5 1 1 CD96|CCDS2959.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CD96|CCDS2959.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 2 3 2 3 27 22 27 22 2 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736723080 3 128149823 TCCATGCCAGTCCTGAGGAGCAGTGCCACTCAG T 278 PASS - - - - - Del - D 128149823 128149858 32 36 530.058 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 5 2 4 16 22 19 23 5 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736723459 3 129406352 GC G 300 PASS TMCC1 CCDS33855.1 r.? - - Del intronic D 129406352 129406354 1 12 269.544 - - 1 1 1 TMCC1|CCDS33855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMCC1|CCDS33855.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 25 13 25 0 0 ./. 3 2 5 2 37 15 37 15 5 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736723819 3 130387656 TATACTAGTTTGAATATTG T 319 PASS COL6A6 CCDS46911.1 r.? - - Del intronic D 130387656 130387678 18 40 592.998 - - 1 1 1 COL6A6|CCDS46911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL6A6|CCDS46911.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 4 7 2 3 9 16 11 20 4 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736731713 3 156356292 C CA 300 PASS - - - - - Ins - I 156356292 156356301 1 12 265.932 - - 8 1 1 - - ./. 0 0 0 0 22 10 22 11 0 0 ./. 3 2 3 4 29 28 29 28 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736733238 3 161545202 TC T 360 PASS - - - - - Del - D 161545202 161545204 1 12 323.453 - - 1 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 5 2 7 24 28 24 28 2 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736734202 3 163812400 TCGATTATTTATAAAAATGTC T 261 PASS - - - - - Del - D 163812400 163812422 20 28 483.374 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 6 3 6 24 24 24 24 3 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736735160 3 167069958 TA T 420 PASS ZBBX CCDS3199.2 r.? - - Del intronic D 167069958 167069965 1 20 377.362 - - 6 1 1 ZBBX|CCDS3199.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZBBX|CCDS3199.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 23 23 23 0 0 ./. 3 4 6 4 31 29 31 29 6 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736752499 4 20301147 CT C 509 PASS SLIT2 ENST00000504154 r.? - - Del intronic D 20301147 20301152 1 30 484.073 - - 4 1 1 SLIT2|ENST00000504154|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLIT2|ENST00000504154|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 19 11 19 0 0 ./. 5 4 5 5 30 16 30 16 5 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736753111 4 22207698 G GA 300 PASS - - - - - Ins - I 22207698 22207708 1 12 262.641 - - 9 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 2 3 4 3 25 36 25 36 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736756797 4 32566765 AT A 360 PASS - - - - - Del - D 32566765 32566770 1 16 323.117 - - 4 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 3 3 4 5 24 21 24 21 4 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736756819 4 32604526 CG C 300 PASS - - - - - Del - D 32604526 32604528 1 12 268.662 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 3 2 3 3 24 27 24 27 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736776648 4 87671503 CCTACT C 567 PASS PTPN13 CCDS47093.1 r.? - - Del intronic D 87671503 87671509 5 42 592.38 - - 1 1 1 PTPN13|CCDS47093.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPN13|CCDS47093.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 16 19 16 0 0 ./. 5 6 5 7 23 28 23 28 5 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736776855 4 88089874 G GTATATATATGTGTATATATATACGTA 389 PASS KLHL8 CCDS3617.1 r.? - - Ins intronic I 88089874 88089888 26 20 266.792 - - 0 1 - KLHL8|CCDS3617.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KLHL8|CCDS3617.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 3 0 0 24 30 24 30 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736778895 4 94491290 A AAT 300 PASS GRID2 CCDS3637.1 r.? - - Ins intronic I 94491290 94491291 2 10 263.243 - - 0 1 1 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 1 4 1 4 17 19 17 19 1 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736783396 4 110105159 G GA 300 PASS COL25A1 CCDS43258.1 r.? - - Ins intronic I 110105159 110105167 1 12 265.049 - - 7 1 1 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL25A1|CCDS43258.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 16 22 16 0 0 ./. 2 3 3 4 19 14 19 14 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736784072 4 112331471 TA T 300 PASS - - - - - Del - D 112331471 112331474 1 12 269.264 - - 2 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 3 2 3 2 20 18 20 18 3 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736788714 4 126623692 A AT 300 PASS - - - - - Ins - I 126623692 126623699 1 10 266.254 - - 6 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 1 4 1 8 17 31 17 31 1 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736790428 4 132316586 TTAA T 420 PASS - - - - - Del - D 132316586 132316594 3 20 376.969 - - 2 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 4 3 6 4 21 22 21 22 6 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736792714 4 140042492 GACCTCGTGATTCACCCGCCTTGGCCTCCGAAAGTGCTGGGATTACAGGTGTGAACCACCATGCCCAGCCTAGTCTGGTCTTAAAAGATTTCTATCAACACTTATTTATTATTGAGTTCATTGGTATAAACGTGGTGCTTGTTAAATGGTAATTTGTAACAACCTTTTAAATTTATATTATATATAATTTTTATAATTTTTTAAAGTGAACATAAAAACTGTACTTTCAAACTCCTGTAGTGAATCCAAAAAACTCCTTCCCTCCCCTCATTCACCATACCAGTCTATCCAGCAGGCCCCTAGAACTGATGGAGTCTGCAGCCACTGGGGAAGATATGTTATACCTGCCAGAGTCAAGACCACCCTTCACCTATATTTCATCACTCTTCCTCAAAGTCTCTTTATAATTACTAATCTGCCATTGTTATCACAAGCAATTTACTATATGTTTAGATGAATATGCCTATTTTTAAAGTTTCAAAATAGAATTGGTTTCTCCTATACAATTTAAGAGAACATCAGTATTACACATAACCTCTGTGAGGGAAACGTAGACTGTTAATCTACAAAAAGGAGAAACAAACAGCTCGTAATTCCTACTAACAAAAGAGAAATTCTTTTATATGCAAAATAATAAAGATGGCTACATGCAAATCATAATATGATTTTAGTACTCCAACACAAA G 290 PASS ELF2 CCDS3744.1 r.? - - Del intronic D 140042492 140043177 684 36 537.324 - - 1 1 1 ELF2|CCDS3744.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELF2|CCDS3744.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 5 5 0 0 7 12 12 17 5 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736805778 4 178103197 GTAAACATGTAA G 319 PASS - - - - - Del - D 178103197 178103213 11 40 592.38 - - 1 1 1 - - ./. 0 0 0 0 19 17 19 17 0 0 ./. 7 4 7 4 37 32 37 32 7 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736806531 4 179983607 A AT 480 PASS - - - - - Ins - I 179983607 179983616 1 24 426.006 - - 8 1 1 - - ./. 0 0 0 0 14 20 14 20 0 0 ./. 3 5 3 5 32 33 33 34 3 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736807171 4 181433370 C CA 780 PASS - - - - - Ins - I 181433370 181433380 1 50 692.259 - - 9 1 1 - - ./. 0 0 0 0 21 15 21 15 0 0 ./. 9 4 12 9 37 37 37 38 12 9 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736808034 4 183372602 TG T 540 PASS ODZ3 CCDS47165.1 r.? - - Del intronic D 183372602 183372605 1 30 484.675 - - 2 1 1 ODZ3|CCDS47165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ODZ3|CCDS47165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 6 22 6 0 0 ./. 4 5 4 5 29 29 29 29 4 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736810349 4 188312755 C CT 360 PASS - - - - - Ins - I 188312755 188312764 1 16 319.504 - - 8 1 1 - - ./. 0 0 0 0 30 16 30 16 0 0 ./. 3 3 4 3 33 31 33 32 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736817340 5 12864922 T TA 300 PASS - - - - - Ins - I 12864922 12864932 1 10 266.673 - - 9 1 1 - - ./. 0 0 0 0 19 19 19 19 0 0 ./. 1 4 1 5 25 27 25 29 1 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736820657 5 21195052 T TA 360 PASS - - - - - Ins - I 21195052 21195058 1 16 317.599 - - 5 1 1 - - ./. 0 0 0 0 18 14 18 14 0 0 ./. 3 3 3 7 26 48 27 48 3 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736824062 5 29715587 TAA T 600 PASS - - - - - Del - D 29715587 29715591 2 36 539.366 - - 3 1 1 - - ./. 0 0 0 0 15 20 15 20 0 0 ./. 5 5 8 7 30 20 30 20 8 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736824247 5 30107991 ATTAAAAACTATCTC ACTGATGT 377 PASS - - - - - Complex - DI 30107992 30108005 14 56 0 - - 0 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 7 6 0 0 23 20 23 21 7 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736827467 5 38079778 TG T 360 PASS - - - - - Del - D 38079778 38079785 1 12 323.62 - - 6 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 1 5 2 9 22 33 22 33 2 9 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736827517 5 38267960 A AT 300 PASS EGFLAM CCDS3924.1 r.? - - Ins intronic I 38267960 38267961 1 12 266.071 - - 0 1 1 EGFLAM|CCDS3924.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EGFLAM|CCDS3924.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 20 12 20 0 0 ./. 3 2 6 3 45 41 45 41 6 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736828304 5 40307244 TTTTATCAGAGTCCACA T 348 PASS - - - - - Del - D 40307244 40307262 16 33 646.035 - - 1 1 1 - - ./. 0 0 0 0 12 21 12 21 0 0 ./. 2 10 3 9 18 23 18 24 3 10 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736828593 5 41111953 TG T 480 PASS - - - - - Del - D 41111953 41111956 1 25 430.891 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 4 7 4 28 28 28 28 7 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736829757 5 44897407 G GA 360 PASS - - - - - Ins - I 44897407 44897416 1 16 320.007 - - 8 1 1 - - ./. 0 0 0 0 14 16 14 17 0 0 ./. 3 3 4 5 29 33 30 33 4 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736831140 5 52841811 GCT G 360 PASS - - - - - Del - D 52841811 52841815 2 16 323.62 - - 1 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 3 3 3 4 30 16 30 16 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736838156 5 76202116 TA T 300 PASS S100Z CCDS43333.1 r.? - - Del intronic D 76202116 76202121 1 10 269.683 - - 4 1 1 S100Z|CCDS43333.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 S100Z|CCDS43333.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 22 16 22 0 0 ./. 4 1 4 1 23 21 23 21 4 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736841571 5 85627349 G GA 300 PASS - - - - - Ins - I 85627349 85627357 1 12 266.673 - - 7 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 2 4 2 23 24 23 24 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736842112 5 87770096 ACTG A 300 PASS - - - - - Del - D 87770096 87770102 3 12 269.683 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 3 2 4 21 23 21 23 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736843436 5 93291329 CTTT C 600 PASS MIR2277 CCDS4069.1 r.? - - Del intronic D 93291329 93291336 3 36 539.366 - - 6 1 1 MIR2277|CCDS4069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR2277|CCDS4069.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 15 13 15 0 0 ./. 5 5 6 7 24 16 24 16 6 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736849224 5 113215318 T TG 360 PASS - - - - - Ins - I 113215318 113215321 1 15 320.007 - - 2 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 2 4 2 4 18 24 18 24 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736860859 5 148707407 AAGAG A 360 PASS AFAP1L1 CCDS34274.1 r.? - - Del intronic D 148707407 148707421 4 16 323.018 - - 6 1 1 AFAP1L1|CCDS34274.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AFAP1L1|CCDS34274.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 3 3 5 7 22 29 22 29 5 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736879334 6 18462127 GT G 300 PASS RNF144B CCDS34345.1 r.? - - Del intronic D 18462127 18462130 1 12 269.707 - - 2 1 1 RNF144B|CCDS34345.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RNF144B|CCDS34345.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 19 20 19 0 0 ./. 3 2 3 2 18 21 18 21 3 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736881718 6 24401572 G GT 300 PASS MRS2 CCDS4552.1 r.? - - Ins upstream I 24401572 24401582 1 12 266.697 - - 9 1 1 MRS2|CCDS4552.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 MRS2|CCDS4552.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 22 19 23 19 0 0 ./. 3 2 3 3 22 15 22 15 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736888121 6 36961014 GTGGGCTCTTGCA G 464 PASS - - - - - Del - D 36961014 36961030 12 81 861.257 - - 1 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 8 8 8 8 31 26 31 26 8 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736904293 6 85720275 T TTATGTCAGTTTTTATGTC 261 PASS - - - - - Ins - I 85720275 85720276 18 30 387.939 - - 0 1 1 - - ./. 0 0 0 0 15 12 16 12 0 0 ./. 4 5 2 5 14 31 16 31 4 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736904557 6 86425695 CT C 540 PASS - - - - - Del - D 86425695 86425702 1 28 485.473 - - 6 1 1 - - ./. 0 0 0 0 19 27 19 27 0 0 ./. 3 6 3 7 28 38 28 38 3 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736907308 6 94656296 ATCTG A 360 PASS - - - - - Del - D 94656296 94656304 4 15 323.649 - - 1 1 1 - - ./. 0 0 0 0 17 16 17 16 0 0 ./. 4 2 4 2 37 18 37 18 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736910596 6 105555309 A AT 509 PASS BVES CCDS5051.1 r.? - - Ins intronic I 105555309 105555311 1 30 480.055 - - 1 1 1 BVES|CCDS5051.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BVES|CCDS5051.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 11 0 0 ./. 4 5 5 5 27 27 27 27 5 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736911956 6 109585180 GGAA G 300 PASS - - - - - Del - D 109585180 109585194 3 10 269.707 - - 4 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 4 1 5 13 27 13 27 1 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736914543 6 118037240 TG T 300 PASS - - - - - Del - D 118037240 118037243 1 10 269.707 - - 2 1 1 - - ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 1 7 1 17 14 17 14 7 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736914973 6 119373391 TTCTTCATTTCTTCCTTTCACACCTAAA TCTG 261 PASS FAM184A CCDS43500.1 r.? - - Complex intronic DI 119373392 119373418 27 28 0 - - 0 1 1 FAM184A|CCDS43500.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 FAM184A|CCDS43500.1|r.?|-|-|protein_coding:five_prime_UTR:intron:indel:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 6 3 0 0 20 20 21 21 6 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736918282 6 131113543 G GA 300 PASS - - - - - Ins - I 131113543 131113547 1 12 266.697 - - 3 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 4 2 19 21 19 21 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736922390 6 146074028 TAATGG T 269 PASS - - - - - Del - D 146074028 146074039 5 12 269.707 - - 2 1 1 - - ./. 0 0 0 0 21 19 21 19 0 0 ./. 2 3 3 5 19 29 19 29 3 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736922391 6 146074246 ATT A 420 PASS - - - - - Del - D 146074246 146074256 2 14 376.386 - - 9 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 6 1 6 1 15 12 15 12 6 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736927135 6 160535794 CCCGGGCCGGCAGGG C 377 PASS - - - - - Del - D 160535794 160535813 14 54 698.831 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 8 5 7 5 26 29 27 29 8 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736937138 7 15861859 GA G 360 PASS - - - - - Del - D 15861859 15861869 1 15 323.623 - - 9 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 4 2 6 26 24 26 24 2 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736940329 7 24310856 GAA G 360 PASS - - - - - Del - D 24310856 24310862 2 16 323.623 - - 5 1 1 - - ./. 0 0 0 0 19 18 19 18 0 0 ./. 3 3 3 3 36 33 36 33 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736940639 7 25185765 CAG C 300 PASS C7orf31 CCDS5394.1 r.? - - Del intronic D 25185765 25185783 2 12 269.686 - - 8 1 - C7orf31|CCDS5394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7orf31|CCDS5394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 3 2 3 26 35 26 35 2 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736940713 7 25440328 CA C 300 PASS - - - - - Del - D 25440328 25440336 1 10 269.686 - - 7 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 1 6 1 27 28 27 28 6 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736945947 7 39666385 A AT 329 PASS RALA CCDS5460.1 r.? - - Ins intronic I 39666385 39666394 1 15 309.173 - - 8 1 1 RALA|CCDS5460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RALA|CCDS5460.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 18 22 18 0 0 ./. 4 2 4 3 28 41 28 43 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736946275 7 40249656 C CT 360 PASS C7orf10 ENST00000309930 r.? - - Ins intronic I 40249656 40249665 1 16 320.01 - - 8 1 1 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 3 3 3 32 30 32 30 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736946397 7 40498954 G GT 300 PASS C7orf10 ENST00000309930 r.? - - Ins intronic I 40498954 40498962 1 12 263.665 - - 7 1 1 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 2 4 19 19 19 19 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736947900 7 44836986 T TC 600 PASS PPIA CCDS5494.1 r.? - - Ins intronic I 44836986 44836987 1 32 531.544 - - 0 1 1 PPIA|CCDS5494.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPIA|CCDS5494.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 3 7 3 10 25 41 26 42 3 10 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736948377 7 45960305 TGCACG T 418 PASS IGFBP3 CCDS34632.1 r.532+9_532+13delcgugc c.421+9_421+13delcgtgc p.? Del splice region D 45960305 45960311 5 21 426.68 - - 1 1 1 IGFBP3|CCDS34632.1|r.532+9_532+13delcgugc|c.421+9_421+13delcgtgc|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:deletion:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:0000159:SO:CGPX04:SO:0001627:SO:0001576 IGFBP3|CCDS34632.1|r.532+9_532+13delcgugc|c.421+9_421+13delcgtgc|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:deletion:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:0000159:SO:CGPX04:SO:0001627:SO:0001576 ./. 0 0 0 0 20 14 20 14 0 0 ./. 2 6 4 8 51 27 51 27 4 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736948994 7 47943154 TTCAG T 329 PASS PKD1L1 CCDS34633.1 r.? - - Del intronic D 47943154 47943161 4 12 318.806 - - 1 1 1 PKD1L1|CCDS34633.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKD1L1|CCDS34633.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 18 23 18 0 0 ./. 5 1 5 2 38 37 38 37 5 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736950774 7 52790215 AGGGC A 269 PASS - - - - - Del - D 52790215 52790222 4 12 269.686 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 2 3 2 3 27 27 27 27 2 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736952504 7 56609511 TAAGC T 329 PASS - - - - - Del - D 56609511 56609519 4 12 321.816 - - 1 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 1 5 1 30 31 30 31 5 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736959235 7 71807964 GT G 449 PASS CALN1 CCDS47603.1 r.? - - Del intronic D 71807964 71807968 1 24 429.089 - - 3 1 1 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CALN1|CCDS47603.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 17 15 17 0 0 ./. 3 5 4 8 19 23 19 23 4 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736962368 7 80270795 ACT A 360 PASS CD36 CCDS34673.1 r.? - - Del intronic D 80270795 80270802 2 16 323.623 - - 3 1 1 CD36|CCDS34673.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CD36|CCDS34673.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 3 3 3 20 26 20 26 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736962680 7 81431135 ACTTTCAATAGCACGCTGG A 261 PASS - - - - - Del - D 81431135 81431157 18 30 485.434 - - 1 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 5 3 5 17 22 18 22 4 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736963698 7 84648073 TTACGGAACAC T 261 PASS SEMA3D CCDS34676.1 r.? - - Del intronic D 84648073 84648087 10 24 485.434 - - 1 1 1 SEMA3D|CCDS34676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEMA3D|CCDS34676.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 25 16 25 0 0 ./. 2 7 3 6 22 27 22 28 3 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736964050 7 85650503 GCAGA G 420 PASS - - - - - Del - D 85650503 85650510 4 20 377.56 - - 1 1 1 - - ./. 0 0 0 0 13 17 13 17 0 0 ./. 4 3 4 3 20 27 20 27 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736966489 7 94111835 ATATTC A 298 PASS - - - - - Del - D 94111835 94111843 5 15 322.419 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 2 4 3 4 15 22 15 22 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736971440 7 107406612 AC A 600 PASS SLC26A3 CCDS5748.1 r.? - - Del intronic D 107406612 107406617 1 36 538.769 - - 4 1 1 SLC26A3|CCDS5748.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC26A3|CCDS5748.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 5 5 6 5 24 28 24 28 6 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736971606 7 107990777 ATGG A 418 PASS NRCAM CCDS47686.1 r.? - - Del intronic D 107990777 107990781 3 25 430.895 - - 1 1 1 NRCAM|CCDS47686.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NRCAM|CCDS47686.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 4 5 5 26 23 26 23 5 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736973283 7 114157808 ACAG ATT 300 PASS FOXP2 CCDS43635.1 r.? - - Complex intronic DI 114157809 114157811 3 12 0 - - 0 1 1 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 FOXP2|CCDS43635.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 19 22 19 22 0 0 ./. 2 3 0 0 19 22 19 22 2 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736974692 7 119217050 G GA 540 PASS - - - - - Ins - I 119217050 119217060 1 28 480.015 - - 9 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 6 3 7 4 27 27 27 27 7 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736976684 7 126738679 C CA 300 PASS GRM8 CCDS5794.1 r.? - - Ins intronic I 126738679 126738686 1 10 266.675 - - 6 1 1 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 1 4 2 29 18 29 18 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736982763 7 142595397 T TA 360 PASS - - - - - Ins - I 142595397 142595406 1 15 320.01 - - 8 1 1 - - ./. 0 0 0 0 16 21 16 21 0 0 ./. 4 2 4 2 30 25 31 25 4 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736983556 7 145491470 ATTGTTTAAT A 319 PASS - - - - - Del - D 145491470 145491481 9 42 590.298 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 6 5 6 5 30 22 30 22 6 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736985550 7 150822338 GA G 300 PASS AGAP3 CCDS43681.1 r.? - - Del intronic D 150822338 150822343 1 12 269.686 - - 4 1 1 AGAP3|CCDS43681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGAP3|CCDS43681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 2 6 6 21 26 21 26 6 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736985551 7 150822394 AG A 360 PASS AGAP3 CCDS43681.1 r.? - - Del intronic D 150822394 150822399 1 16 323.021 - - 4 1 1 AGAP3|CCDS43681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGAP3|CCDS43681.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 10 18 10 0 0 ./. 3 3 7 3 26 15 26 15 7 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736986038 7 152087155 G GA 259 PASS BAGE3 CCDS5931.1 r.? - - Ins intronic I 152087155 152087158 1 8 372.743 - - 2 1 1 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BAGE3|CCDS5931.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 8 19 8 0 0 ./. 7 0 9 0 42 10 42 10 9 0 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736988739 8 997715 C CT 300 PASS C8orf68 ENST00000450568 r.? - - Ins intronic I 997715 997725 1 12 264.911 - - 9 1 1 C8orf68|ENST00000450568|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C8orf68|ENST00000450568|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 16 7 16 0 0 ./. 3 2 3 2 19 18 19 19 3 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736994267 8 17328583 AGG A 300 PASS - - - - - Del - D 17328583 17328587 2 10 269.727 - - 3 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 1 4 2 5 13 12 13 12 2 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736997467 8 27636048 AAATT A 327 PASS ESCO2 CCDS34872.1 r.? - - Del intronic D 27636048 27636055 4 20 377.016 - - 1 1 1 ESCO2|CCDS34872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESCO2|CCDS34872.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 19 17 19 0 0 ./. 3 4 5 5 26 19 26 19 5 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2736998819 8 31388680 GT G 300 PASS - - - - - Del - D 31388680 31388688 1 12 268.523 - - 7 1 1 - - ./. 0 0 0 0 22 18 22 18 0 0 ./. 2 3 2 3 17 15 17 15 2 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737000103 8 35795867 AG A 514 PASS - - - - - Del - D 35795867 35795870 1 32 538.25 - - 2 1 1 - - ./. 0 0 0 0 12 18 12 18 0 0 ./. 3 7 4 8 23 29 23 29 4 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737000261 8 36713192 G GA 300 PASS KCNU1 ENST00000399881 r.? - - Ins intronic I 36713192 36713202 1 12 266.717 - - 9 1 1 KCNU1|ENST00000399881|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNU1|ENST00000399881|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 10 28 10 0 0 ./. 3 2 5 2 40 21 40 21 5 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737012270 8 73246109 GCA G 329 PASS - - - - - Del - D 73246109 73246123 2 15 322.469 - - 6 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 4 2 3 33 45 33 45 2 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737012721 8 74355419 G GA 300 PASS STAU2 ENST00000343268 r.? - - Ins intronic I 74355419 74355428 1 12 265.513 - - 8 1 1 STAU2|ENST00000343268|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STAU2|ENST00000343268|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 3 2 3 4 37 45 37 46 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737013318 8 75711583 A ATCATTTATTTTCCTAAG 261 PASS - - - - - Ins - I 75711583 75711610 17 30 391.588 - - 1 1 1 - - ./. 0 0 0 0 28 15 28 15 0 0 ./. 4 5 1 2 33 40 40 43 4 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737013319 8 75711659 TAGAATCTACATAAAAACAACTCACGAATTAATTTGACATATCTAAGTGGCTGCAGTAAGCTTGATTATGTTAATCTCTTGCTAGTGAACTTTTTTGAGGTACATTTGGTGTCCTGGCCATTGTGTTTGTCTTGTAGATACTCATCTTACTACTCTTTTCGCTTCTGTCAAACAGAATGACCAAATCTTGGAAAGACCTGAGG T 290 PASS - - - - - Del - D 75711659 75711866 202 35 539.455 - - 1 1 1 - - ./. 0 0 0 0 17 14 17 14 0 0 ./. 4 6 0 0 39 25 43 31 4 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737014004 8 77659654 CT C 420 PASS ZFHX4 CCDS47878.1 r.? - - Del intronic D 77659654 77659657 1 18 377.618 - - 2 1 1 ZFHX4|CCDS47878.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZFHX4|CCDS47878.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 21 16 21 0 0 ./. 5 2 7 4 43 41 43 41 7 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737014853 8 79965937 G GTA 300 PASS - - - - - Ins - I 79965937 79965950 2 10 263.707 - - 6 1 - - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 1 4 3 4 21 42 21 43 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737016974 8 85453134 C CA 300 PASS - - - - - Ins - I 85453134 85453143 1 10 265.513 - - 8 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 1 5 2 52 43 52 43 5 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737017280 8 86406676 A AT 300 PASS - - - - - Ins - I 86406676 86406685 1 12 266.115 - - 8 1 1 - - ./. 0 0 0 0 14 8 15 8 0 0 ./. 3 2 3 4 35 33 35 33 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737021775 8 97750635 G GT 272 PASS ENSG00000104324 CCDS6273.1 r.? - - Ins intronic I 97750635 97750645 1 12 264.911 - - 9 1 1 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ENSG00000104324|CCDS6273.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 18 11 18 0 0 ./. 3 2 3 2 39 47 39 47 3 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737022621 8 99499081 G GAGGTGA 261 PASS ENSG00000104375 CCDS47900.1 r.? - - Ins intronic I 99499081 99499084 6 28 449.386 - - 0 1 1 ENSG00000104375|CCDS47900.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000104375|CCDS47900.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 24 12 24 0 0 ./. 6 3 6 5 39 33 39 33 6 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737025205 8 105642560 TA T 508 PASS - - - - - Del - D 105642560 105642564 1 35 537.648 - - 3 1 1 - - ./. 0 0 0 0 26 20 26 20 0 0 ./. 4 6 9 10 36 26 36 26 9 10 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737026353 8 108666939 TAGGTTGC T 348 PASS - - - - - Del - D 108666939 108666951 7 48 646.743 - - 1 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 7 6 8 41 44 41 44 6 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737026501 8 109192515 TTTCAGAAGCCCACAGAGAAGAAAATCAATCATAAATCTTCTAAAGAGAAAAATCAGTTCATGTACAAAGGAATAGGAATCTGATATTTCTCAGGAAAAA T 261 PASS - - - - - Del - D 109192515 109192619 99 28 483.703 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 6 0 0 25 35 28 41 3 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737026940 8 110921963 G GA 300 PASS - - - - - Ins - I 110921963 110921972 1 12 266.717 - - 8 1 1 - - ./. 0 0 0 0 15 15 16 15 0 0 ./. 3 2 3 7 44 57 47 57 3 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737027290 8 111998481 AT A 628 PASS - - - - - Del - D 111998481 111998485 1 104 1024.96 - - 3 1 1 - - ./. 0 0 0 0 15 9 15 10 0 0 ./. 12 7 27 15 44 27 44 29 27 15 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737027774 8 113061424 A AT 360 PASS - - - - - Ins - I 113061424 113061431 1 15 320.06 - - 6 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 4 2 4 3 53 56 54 56 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737028423 8 114786437 C CT 480 PASS - - - - - Ins - I 114786437 114786444 1 25 426.747 - - 6 1 1 - - ./. 0 0 0 0 18 21 18 21 0 0 ./. 4 4 5 6 55 61 55 61 5 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737030073 8 118412074 G GT 360 PASS - - - - - Ins - I 118412074 118412084 1 16 320.06 - - 9 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 3 4 3 61 49 61 50 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737030084 8 118460881 CTAAGGAAATTT C 290 PASS - - - - - Del - D 118460881 118460894 11 36 538.25 - - 1 1 1 - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 5 5 6 5 48 37 48 37 6 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737031384 8 121085522 CGAGCT C 538 PASS - - - - - Del - D 121085522 121085531 5 35 538.853 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 6 4 7 4 61 42 61 42 7 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737031943 8 122373347 A AACTTTTAT 290 PASS - - - - - Ins - I 122373347 122373352 8 35 491.29 - - 0 1 1 - - ./. 0 0 0 0 20 13 21 13 0 0 ./. 4 6 4 6 62 49 63 49 4 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737031986 8 122446778 AGCC ATT 358 PASS - - - - - Complex - DI 122446779 122446781 3 14 0 - - 0 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 1 6 0 0 29 64 29 64 1 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737033755 8 125861727 C CT 360 PASS ENSG00000235517 ENST00000422573 r.? - - Ins intronic I 125861727 125861737 1 15 315.846 - - 9 1 1 ENSG00000235517|ENST00000422573|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000235517|ENST00000422573|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 20 15 20 0 0 ./. 2 4 8 7 65 47 65 47 8 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737034426 8 127321225 GTGGCTAGGCAAAGGATAGGGTCCAGGTACTTACCC G 261 PASS - - - - - Del - D 127321225 127321263 35 28 485.509 - - 1 1 1 - - ./. 0 0 0 0 9 21 9 21 0 0 ./. 6 3 6 2 44 25 44 26 6 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737034615 8 127717763 T TA 360 PASS - - - - - Ins - I 127717763 127717771 1 12 320.06 - - 7 1 1 - - ./. 0 0 0 0 18 15 18 15 0 0 ./. 1 5 3 7 54 56 55 57 3 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737034999 8 128528367 CGAA C 720 PASS - - - - - Del - D 128528367 128528379 3 40 646.141 - - 3 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 9 3 10 4 53 44 53 44 10 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737035219 8 128883205 GCCT G 360 PASS PVT1 CCDS3617.1 r.? - - Del intronic D 128883205 128883225 3 12 323.673 - - 6 1 1 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 9 24 9 0 0 ./. 5 1 5 1 59 49 59 49 5 1 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737035819 8 130285634 AT A 780 PASS - - - - - Del - D 130285634 130285636 1 56 700.087 - - 1 1 1 - - ./. 0 0 0 0 21 14 21 14 0 0 ./. 7 6 11 7 70 43 70 43 11 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737036073 8 130862590 G GA 360 PASS FAM49B CCDS6361.1 r.? - - Ins intronic I 130862590 130862600 1 15 320.06 - - 9 1 1 FAM49B|CCDS6361.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM49B|CCDS6361.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 15 22 15 0 0 ./. 4 2 5 4 69 83 69 83 5 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737036685 8 132164134 GAAGATATTCAGAGCTCTGCTCCAGCCCATTTTCACAGGAAAGCTGCTCTCTCCTCCGAAAGACCACATGCAAACTTAAACCTTGGAAATAATTGGAAAAAATAATTTTAAAAGGCAACTACCATACAGA G 348 PASS - - - - - Del - D 132164134 132164266 129 45 646.141 - - 1 1 1 - - ./. 0 0 0 0 13 16 13 16 0 0 ./. 4 8 0 0 53 35 57 43 4 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737037950 8 135228235 A AT 300 PASS - - - - - Ins - I 135228235 135228245 1 12 264.911 - - 9 1 1 - - ./. 0 0 0 0 18 17 18 17 0 0 ./. 2 3 3 3 48 69 49 71 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737038006 8 135374284 TCTGAACGTCAAGAGCTAAAGA T 1119 PASS - - - - - Del - D 135374284 135374306 21 414 2102.67 - - 1 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 22 17 20 16 43 33 45 34 22 17 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737038209 8 135961376 TCTCTAC T 348 PASS - - - - - Del - D 135961376 135961386 6 48 636.508 - - 1 1 1 - - ./. 0 0 0 0 8 22 8 22 0 0 ./. 5 7 5 8 44 47 44 47 5 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737038259 8 136086280 C CT 300 PASS - - - - - Ins - I 136086280 136086287 1 12 264.911 - - 6 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 2 3 3 4 43 54 43 56 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737038351 8 136324721 CT C 300 PASS - - - - - Del - D 136324721 136324725 1 12 269.727 - - 3 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 3 3 3 65 43 65 43 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737038355 8 136346925 AGGCCCTTTGTGCTTTGGAGAAGCCCAG A 377 PASS - - - - - Del - D 136346925 136346954 27 54 695.872 - - 1 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 8 5 5 5 41 62 43 62 8 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737038642 8 137101288 ATTTCTACAGCCGG A 348 PASS - - - - - Del - D 137101288 137101305 13 49 647.346 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 6 0 0 62 39 62 39 6 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737038723 8 137282736 TG T 420 PASS - - - - - Del - D 137282736 137282740 1 20 376.414 - - 3 1 1 - - ./. 0 0 0 0 14 5 14 5 0 0 ./. 4 3 5 7 44 40 44 40 5 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737039260 8 138487897 G GT 300 PASS - - - - - Ins - I 138487897 138487907 1 12 263.707 - - 9 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 3 5 50 48 50 48 3 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737040245 8 140725872 C CT 360 PASS - - - - - Ins - I 140725872 140725878 1 7 318.254 - - 5 1 1 - - ./. 0 0 0 0 23 11 24 11 0 0 ./. 0 6 1 0 62 46 64 47 1 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737041192 8 142745389 CATCTA C 294 PASS - - - - - Del - D 142745389 142745398 5 16 431.564 - - 1 1 1 - - ./. 0 0 0 0 3 7 3 7 0 0 ./. 1 7 1 8 37 46 37 46 1 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737041482 8 143776733 AT A 360 PASS LY6K CCDS6385.1 r.? - - Del upstream D 143776733 143776735 1 7 312.836 - - 1 1 1 LY6K|CCDS6385.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000232495|ENST00000426305|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 6 0 11 0 49 45 49 45 11 0 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737042417 8 145969268 A AT 360 PASS ZNF251 CCDS47944.1 r.? - - Ins intronic I 145969268 145969275 1 12 320.06 - - 6 1 1 ZNF251|CCDS47944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF251|CCDS47944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 1 5 2 6 39 59 39 59 2 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737043605 9 3189836 ATT A 300 PASS - - - - - Del - D 3189836 3189839 2 12 270.657 - - 2 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 2 3 3 3 14 13 14 13 3 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737043980 9 4513026 G GA 300 PASS SLC1A1 CCDS6452.1 r.? - - Ins intronic I 4513026 4513036 1 12 264.035 - - 9 1 1 SLC1A1|CCDS6452.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC1A1|CCDS6452.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 16 18 16 0 0 ./. 3 2 3 4 23 16 23 16 3 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737049166 9 21766972 GC G 420 PASS - - - - - Del - D 21766972 21766975 1 20 375.91 - - 2 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 3 4 4 4 25 21 25 21 4 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737049984 9 25457985 G GA 420 PASS - - - - - Ins - I 25457985 25457993 1 18 374.706 - - 7 1 1 - - ./. 0 0 0 0 11 15 13 15 0 0 ./. 2 5 3 5 19 20 20 20 3 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737051322 9 30357525 CTCATT C 569 PASS - - - - - Del - D 30357525 30357533 5 27 540.11 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 8 2 8 20 31 20 31 2 8 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737059182 9 72972878 AT A 420 PASS SMC5 CCDS6632.1 r.? - - Del downstream D 72972878 72972881 1 14 378.92 - - 2 1 1 SMC5|CCDS6632.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SMC5|CCDS6632.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 19 15 19 0 0 ./. 1 6 2 7 19 20 19 20 2 7 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737065499 9 92217672 CG C 360 PASS GADD45G CCDS6686.1 r.? - - Del upstream D 92217672 92217676 1 15 324.789 - - 3 1 1 GADD45G|CCDS6686.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 GADD45G|CCDS6686.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 13 7 13 7 0 0 ./. 4 2 4 3 17 7 17 7 4 3 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737065866 9 93665422 GCC G 569 PASS SYK CCDS6688.1 r.? - - Del downstream D 93665422 93665428 2 32 540.11 - - 5 1 1 SYK|CCDS6688.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SYK|CCDS6688.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 18 13 18 13 0 0 ./. 7 3 7 4 31 19 31 19 7 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737070192 9 109257598 ATAGTTTCT AGC 290 PASS - - - - - Complex - DI 109257599 109257606 8 35 0 - - 0 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 4 6 0 0 22 20 22 20 4 6 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737071739 9 114047527 CACTT C 300 PASS - - - - - Del - D 114047527 114047535 4 12 270.657 - - 1 1 1 - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 3 2 3 2 18 14 18 14 3 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737074277 9 121945405 TA T 300 PASS DBC1 CCDS6822.1 r.? - - Del intronic D 121945405 121945408 1 10 270.657 - - 2 1 1 DBC1|CCDS6822.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DBC1|CCDS6822.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 4 2 5 15 24 15 24 2 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737074928 9 124307969 TG T 660 PASS - - - - - Del - D 124307969 124307975 1 40 594.242 - - 5 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 7 4 7 5 19 24 19 24 7 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737075665 9 126931648 A AT 360 PASS - - - - - Ins - I 126931648 126931656 1 16 321.176 - - 7 1 1 - - ./. 0 0 0 0 15 25 17 25 0 0 ./. 3 3 5 4 18 27 18 27 5 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737076317 9 128721163 C CCT 480 PASS PBX3 CCDS6865.1 r.? - - Ins intronic I 128721163 128721178 2 24 422.817 - - 7 1 - PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PBX3|CCDS6865.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 12 17 13 0 0 ./. 5 3 6 4 22 19 22 19 6 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737086826 X 45141087 TAA T 420 PASS - - - - - Del - D 45141087 45141095 2 18 380.641 - - 7 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 2 6 2 16 20 16 20 6 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737091725 X 84748626 CA C 540 PASS - - - - - Del - D 84748626 84748628 1 28 488.794 - - 1 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 6 3 6 4 11 12 11 12 6 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737092946 X 92649966 C CTTT 327 PASS - - - - - Ins - I 92649966 92649976 3 14 367.396 - - 9 1 1 - - ./. 0 0 0 0 10 8 10 9 0 0 ./. 6 1 7 2 16 11 17 11 7 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737094793 X 106199945 CAG C 300 PASS MORC4 CCDS14525.2 r.? - - Del intronic D 106199945 106199964 2 6 268.876 - - 9 1 - MORC4|CCDS14525.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MORC4|CCDS14525.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 0 5 0 5 14 14 14 14 0 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737095946 X 115972286 AGCCATCAAGTTTCAGGTTTATGCAAG A 261 PASS - - - - - Del - D 115972286 115972316 26 30 479.161 - - 1 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 4 5 3 5 5 7 6 7 4 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737098991 X 133345249 AG A 420 PASS - - - - - Del - D 133345249 133345255 1 14 380.641 - - 5 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 6 1 6 2 23 25 23 25 6 2 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737099908 X 138626712 AATAG A 507 PASS F9 CCDS14666.1 r.? - - Del intronic D 138626712 138626718 4 36 543.773 - - 1 1 1 F9|CCDS14666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 F9|CCDS14666.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 5 5 5 5 20 18 20 18 5 5 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737100104 X 139784726 C CA 300 PASS - - - - - Ins - I 139784726 139784736 1 6 265.866 - - 9 1 - - - ./. 0 0 0 0 10 16 10 16 0 0 ./. 5 0 7 0 31 16 31 17 7 0 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737103903 Y 13274030 AC A 607 PASS - - - - - Del - D 13274030 13274032 1 21 1098.05 - - 1 1 1 - - ./. 0 0 0 0 49 27 49 27 0 0 ./. 20 0 24 0 229 81 229 81 24 0 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737105247 Y 17248817 G GA 360 PASS - - - - - Ins - I 17248817 17248826 1 16 325.201 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 3 3 5 4 20 13 20 14 5 4 1 1 1 1 1 1 1 1 2725046 PD20344a PD20344b 2737105369 Y 19060750 ATACT A 569 PASS - - - - - Del - D 19060750 19060757 4 32 544.812 - - 1 1 1 - - ./. 0 0 0 0 8 3 8 3 0 0 ./. 7 3 7 5 12 12 12 12 7 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738861774 1 16979401 T TAA 471 PASS AL355149.1 ENST00000515775 r.? - - Ins intronic I 16979401 16979409 2 16 786.209 - - 7 1 1 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AL355149.1|ENST00000515775|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 15 0 19 0 93 52 93 53 19 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738868133 1 31627988 G GCGGGGA 290 PASS - - - - - Ins - I 31627988 31627994 6 27 498.251 - - 0 1 1 - - ./. 0 0 0 0 2 10 2 10 0 0 ./. 8 2 8 2 18 8 18 11 8 2 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738872499 1 42759243 CA C 300 PASS FOXJ3 CCDS30689.1 r.? - - Del intronic D 42759243 42759253 1 12 266.886 - - 9 1 1 FOXJ3|CCDS30689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FOXJ3|CCDS30689.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 3 2 36 35 36 35 3 2 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738872934 1 43917991 CTG C 509 PASS KIAA0467 CCDS30694.1 r.9905_9906delUG c.? p.? Del 3'UTR variant D 43917991 43917996 2 30 466.789 - - 2 1 1 KIAA0467|CCDS30694.1|r.9905_9906delUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 HYI|ENST00000372427|r.1588_1589delCA|c.108_109delCA|p.H36fs*14|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 13 12 13 12 0 0 ./. 5 4 6 5 31 20 31 20 6 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738881487 1 68289245 G GT 509 PASS GNG12 CCDS30749.1 r.? - - Ins intronic I 68289245 68289247 1 30 475.218 - - 1 1 1 GNG12|CCDS30749.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 GNG12|CCDS30749.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 5 4 7 9 26 33 27 33 7 9 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738888610 1 89732535 AAT A 420 PASS GBP5 CCDS722.1 r.? - - Del intronic D 89732535 89732551 2 20 375.567 - - 7 1 1 GBP5|CCDS722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GBP5|CCDS722.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 4 3 4 32 24 32 24 3 4 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738890352 1 94282841 C CG 480 PASS BCAR3 CCDS745.1 r.? - - Ins intronic I 94282841 94282848 1 25 425.092 - - 6 1 1 BCAR3|CCDS745.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 BCAR3|CCDS745.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 4 4 4 5 30 32 31 33 4 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738893613 1 103568277 A AT 300 PASS COL11A1 CCDS779.1 r.? - - Ins intronic I 103568277 103568284 1 10 265.682 - - 6 1 1 COL11A1|CCDS779.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL11A1|CCDS779.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 1 4 2 30 15 30 15 4 2 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738896566 1 112143812 CT C 300 PASS RAP1A CCDS840.1 r.? - - Del intronic D 112143812 112143815 1 12 268.693 - - 2 1 1 RAP1A|CCDS840.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RAP1A|CCDS840.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 12 17 12 0 0 ./. 2 3 2 4 30 28 30 28 2 4 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738903277 1 147788655 GT G 420 PASS - - - - - Del - D 147788655 147788659 1 14 376.169 - - 3 1 1 - - ./. 0 0 0 0 19 8 19 8 0 0 ./. 6 1 9 4 31 22 31 22 9 4 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738903406 1 148537493 TG T 370 PASS - - - - - Del - D 148537493 148537495 1 11 536.181 - - 1 1 1 - - ./. 0 0 0 0 25 16 25 16 0 0 ./. 10 0 11 0 73 32 73 32 11 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738903805 1 149033184 ATTCCATTTGT A 281 PASS - - - - - Del - D 149033184 149033202 10 36 588.113 - - 1 1 1 - - ./. 0 0 0 0 24 32 24 32 0 0 ./. 3 8 3 10 79 120 79 120 3 10 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738913428 1 174628950 G GT 300 PASS RABGAP1L CCDS1314.1 r.? - - Ins intronic I 174628950 174628960 1 12 265.08 - - 9 1 1 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 21 22 21 0 0 ./. 2 3 2 3 30 29 30 29 2 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738921163 1 196378350 CT C 420 PASS KCNT2 CCDS1384.1 r.? - - Del intronic D 196378350 196378353 1 20 372.557 - - 2 1 1 KCNT2|CCDS1384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNT2|CCDS1384.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 3 5 6 20 29 20 29 5 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738922000 1 199130164 GGAAGGAA G 329 PASS - - - - - Del - D 199130164 199130180 7 7 322.431 - - 2 1 - - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 0 1 0 42 21 42 21 6 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738937209 1 239416610 TACTC T 658 PASS - - - - - Del - D 239416610 239416617 4 45 644.26 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 4 8 4 9 22 27 22 27 4 9 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738961002 10 47140173 T TG 360 PASS - - - - - Ins - I 47140173 47140175 1 15 319.212 - - 1 1 1 - - ./. 0 0 0 0 26 23 26 23 0 0 ./. 2 4 5 5 44 56 44 57 5 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738972076 10 77134640 TA T 480 PASS - - - - - Del - D 77134640 77134645 1 21 430.634 - - 4 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 6 2 7 4 31 22 31 22 7 4 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738972603 10 78828353 G GA 360 PASS KCNMA1 CCDS7352.1 r.? - - Ins intronic I 78828353 78828363 1 15 319.815 - - 9 1 1 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 13 17 13 0 0 ./. 4 2 4 3 39 42 39 42 4 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738978577 10 96755180 CT C 540 PASS - - - - - Del - D 96755180 96755186 1 28 485.14 - - 5 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 6 5 10 35 30 35 30 5 10 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738980458 10 101294476 CT C 480 PASS NKX2-3 CCDS41558.1 r.? - - Del intronic D 101294476 101294479 1 25 430.032 - - 2 1 1 NKX2-3|CCDS41558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKX2-3|CCDS41558.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 4 7 5 36 31 36 31 7 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2738988470 10 122731175 TTC T 300 PASS - - - - - Del - D 122731175 122731194 2 12 267.716 - - 9 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 2 3 1 3 36 33 36 33 2 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739011721 11 48639829 TG T 540 PASS - - - - - Del - D 48639829 48639831 1 30 484.278 - - 1 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 4 5 4 17 19 17 19 5 4 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739012997 11 55858654 CT C 480 PASS OR8I2 CCDS31517.1 r.? - - Del upstream D 55858654 55858658 1 9 432.075 - - 3 1 1 OR8I2|CCDS31517.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 OR8I2|CCDS31517.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 22 16 22 16 0 0 ./. 0 8 2 11 24 37 24 37 2 11 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739025810 11 90161839 CAT C 360 PASS - - - - - Del - D 90161839 90161844 2 16 324.056 - - 2 1 - - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 3 3 5 7 25 26 25 26 5 7 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739033532 11 111873882 T TC 720 PASS DIXDC1 ENST00000389821 r.? - - Ins intronic I 111873882 111873884 1 33 639.684 - - 1 1 1 DIXDC1|ENST00000389821|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 DIXDC1|ENST00000389821|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 14 8 14 0 0 ./. 2 10 4 10 21 24 21 24 4 10 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739040780 11 131827372 A AT 360 PASS OPCML CCDS8491.1 r.? - - Ins intronic I 131827372 131827378 1 15 319.24 - - 5 1 1 OPCML|CCDS8491.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OPCML|CCDS8491.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 4 2 8 2 35 19 35 19 8 2 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739054113 12 31262430 CACAA C 349 PASS DDX11 CCDS41767.1 r.? - - Del downstream D 31262430 31262438 4 12 594.229 - - 1 1 1 DDX11|CCDS41767.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DDX11|CCDS41767.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 4 14 4 0 0 ./. 11 0 14 0 33 26 33 26 14 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739064115 12 61775810 G GT 360 PASS - - - - - Ins - I 61775810 61775820 1 15 316.298 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 2 4 2 4 32 26 34 26 2 4 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739067262 12 70392372 ATG A 360 PASS - - - - - Del - D 70392372 70392392 2 15 324.125 - - 9 1 - - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 2 4 2 6 32 26 32 26 2 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739076989 12 99958679 CT C 360 PASS ANKS1B ENST00000329257 r.? - - Del intronic D 99958679 99958682 1 15 323.523 - - 2 1 1 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKS1B|ENST00000329257|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 4 2 4 5 11 29 11 29 4 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739083027 12 116567292 G GT 300 PASS MED13L CCDS9177.1 r.? - - Ins intronic I 116567292 116567294 1 12 266.492 - - 1 1 1 MED13L|CCDS9177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MED13L|CCDS9177.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 3 6 7 41 33 43 34 6 7 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739089099 12 129654512 AT A 600 PASS TMEM132D CCDS9266.1 r.? - - Del intronic D 129654512 129654516 1 35 540.208 - - 3 1 1 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM132D|CCDS9266.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 4 6 7 6 38 37 38 37 7 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739090732 12 133564990 T TA 300 PASS ZNF26 CCDS31939.1 r.? - - Ins intronic I 133564990 133564996 1 12 262.879 - - 5 1 1 ZNF26|CCDS31939.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZNF26|CCDS31939.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 2 3 2 5 32 32 32 32 2 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739091473 13 20054887 G GA 266 PASS TPTE2 CCDS45014.1 r.? - - Ins intronic I 20054887 20054888 1 11 535.368 - - 0 1 1 TPTE2|CCDS45014.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TPTE2|CCDS45014.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 10 0 13 0 44 28 44 28 13 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739095215 13 27743512 TACAAAGCCAAA T 261 PASS USP12 CCDS31952.1 r.? - - Del intronic D 27743512 27743524 11 24 486.648 - - 1 1 1 USP12|CCDS31952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USP12|CCDS31952.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 2 7 2 6 21 36 21 37 2 7 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739101521 13 44393766 GATAA G 275 PASS - - - - - Del - D 44393766 44393774 4 12 324.231 - - 1 1 1 - - ./. 0 0 0 0 5 20 5 20 0 0 ./. 5 1 4 1 20 27 21 27 5 1 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739110706 13 70429536 A AGATACAGATAGAGATAGAGACAGAGATAGAGATAGACAGT 319 PASS KLHL1 CCDS9445.1 r.? - - Ins intronic I 70429536 70429571 40 42 330.621 - - 0 1 - KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 13 4 13 0 0 ./. 6 5 0 0 28 40 30 43 6 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739124842 13 109267918 GA G 600 PASS MYO16 CCDS32008.1 r.? - - Del intronic D 109267918 109267922 1 27 541.388 - - 3 1 1 MYO16|CCDS32008.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MYO16|CCDS32008.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 20 16 20 0 0 ./. 8 2 11 3 32 20 32 20 11 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739127112 14 19068958 A AT 261 PASS - - - - - Ins - I 19068958 19068965 1 10 482.308 - - 6 1 1 - - ./. 0 0 0 0 28 23 28 24 0 0 ./. 9 0 5 0 58 56 59 56 10 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739134009 14 36939928 AC A 300 PASS SFTA3 CCDS45097.1 r.? - - Del downstream D 36939928 36939930 1 6 263.133 - - 1 1 1 SFTA3|CCDS45097.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SFTA3|CCDS45097.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 0 6 0 32 30 32 30 6 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739138211 14 49426354 A AG 300 PASS - - - - - Ins - I 49426354 49426355 1 10 266.745 - - 0 1 1 - - ./. 0 0 0 0 12 16 12 17 0 0 ./. 1 4 1 5 20 26 20 26 1 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739156611 14 98290255 G GA 540 PASS - - - - - Ins - I 98290255 98290264 1 30 481.706 - - 8 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 5 4 8 5 41 38 42 38 8 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739160464 15 20121011 CA C 376 PASS - - - - - Del - D 20121011 20121015 1 77 866.721 - - 3 1 1 - - ./. 0 0 0 0 38 68 38 68 0 0 ./. 6 10 7 12 188 214 188 216 7 12 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739168576 15 40299423 CA C 480 PASS EIF2AK4 CCDS42016.1 r.? - - Del intronic D 40299423 40299425 1 25 433.661 - - 1 1 1 EIF2AK4|CCDS42016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EIF2AK4|CCDS42016.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 22 18 22 0 0 ./. 4 4 5 7 27 31 27 31 5 7 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739171635 15 47616584 ATCTTT A 478 PASS - - - - - Del - D 47616584 47616591 5 28 485.461 - - 1 1 1 - - ./. 0 0 0 0 3 11 3 11 0 0 ./. 3 6 3 6 9 35 9 35 3 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739173350 15 52463738 AG A 420 PASS GNB5 CCDS10149.1 r.? - - Del intronic D 52463738 52463741 1 20 379.454 - - 2 1 1 GNB5|CCDS10149.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GNB5|CCDS10149.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 17 16 17 0 0 ./. 3 4 4 6 20 18 20 18 4 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739174261 15 55135208 CT C 420 PASS - - - - - Del - D 55135208 55135211 1 20 379.454 - - 2 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 4 8 6 41 32 41 32 8 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739186230 15 85958379 T TA 300 PASS AKAP13 CCDS32320.1 r.? - - Ins intronic I 85958379 85958389 1 6 268.028 - - 9 1 1 AKAP13|CCDS32320.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 AKAP13|CCDS32320.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 15 16 15 0 0 ./. 0 5 1 6 27 30 27 31 1 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739203837 16 26212334 AAG A 300 PASS - - - - - Del - D 26212334 26212351 2 10 270.781 - - 8 1 - - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 4 1 4 2 33 25 33 25 4 2 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739206332 16 32334750 AAAG A 387 PASS - - - - - Del - D 32334750 32334754 3 14 704.03 - - 1 1 1 - - ./. 0 0 0 0 14 15 14 15 0 0 ./. 13 0 28 0 72 24 72 24 28 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739211391 16 53789539 C CT 660 PASS FTO CCDS32448.1 r.? - - Ins intronic I 53789539 53789543 1 42 587.288 - - 3 1 1 FTO|CCDS32448.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FTO|CCDS32448.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 12 18 12 0 0 ./. 6 5 9 8 35 28 35 28 9 8 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739224715 16 87199888 T TA 300 PASS - - - - - Ins - I 87199888 87199898 1 12 267.77 - - 9 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 3 2 4 2 39 26 39 26 4 2 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739236925 17 25268310 GT G 279 PASS - - - - - Del - D 25268310 25268317 1 28 487.445 - - 6 1 1 - - ./. 0 0 0 0 26 32 26 32 0 0 ./. 6 3 8 3 97 93 97 93 8 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739240812 17 34490370 CT C 464 PASS TBC1D3B CCDS42300.1 r.? - - Del downstream D 34490370 34490374 1 17 864.762 - - 3 1 1 TBC1D3B|CCDS42300.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TBC1D3B|CCDS42300.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 5 5 5 0 0 ./. 16 0 18 0 41 16 41 16 18 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739253545 17 64390190 CA C 540 PASS PRKCA CCDS11664.1 r.? - - Del intronic D 64390190 64390200 1 24 486.843 - - 9 1 1 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 6 17 6 0 0 ./. 7 2 9 2 25 21 25 21 9 2 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739261742 18 881421 CT C 660 PASS - - - - - Del - D 881421 881424 1 36 595.734 - - 2 1 1 - - ./. 0 0 0 0 13 17 21 17 0 0 ./. 3 8 4 8 32 29 42 29 4 8 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739280654 18 56195187 CT C 300 PASS ALPK2 CCDS11966.2 r.? - - Del intronic D 56195187 56195193 1 12 268.052 - - 5 1 1 ALPK2|CCDS11966.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ALPK2|CCDS11966.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 17 20 17 0 0 ./. 2 3 4 4 31 22 31 22 4 4 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739281795 18 59302164 CA C 646 PASS - - - - - Del - D 59302164 59302172 1 40 594.53 - - 7 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 7 7 13 23 31 23 31 7 13 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739300365 19 21533257 G GT 360 PASS - - - - - Ins - I 21533257 21533267 1 12 321.699 - - 9 1 1 - - ./. 0 0 0 0 18 14 19 14 0 0 ./. 5 1 6 1 39 31 39 31 6 1 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739350325 2 95543144 T TCAGATGGG 261 PASS TEKT4 CCDS2005.1 r.? - - Ins downstream I 95543144 95543158 8 10 438.151 - - 1 1 1 TEKT4|CCDS2005.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TEKT4|CCDS2005.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 14 17 14 17 0 0 ./. 9 0 10 0 45 27 47 27 12 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739356390 2 114341125 TTGCGTCTGGC T 263 PASS MIR1302-3 ENST00000408128 r.? - - Del upstream D 114341125 114341137 10 12 591.443 - - 1 1 1 MIR1302-3|ENST00000408128|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 MIR1302-3|ENST00000408128|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 21 27 21 27 0 0 ./. 11 0 11 0 62 42 62 42 11 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739362511 2 132262075 C CA 325 PASS - - - - - Ins - I 132262075 132262077 1 24 425.324 - - 1 1 1 - - ./. 0 0 0 0 3 14 3 14 0 0 ./. 3 5 4 7 31 24 31 24 4 7 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739367126 2 143683994 TA T 300 PASS KYNU CCDS2183.1 r.? - - Del intronic D 143683994 143684004 1 12 268.838 - - 9 1 1 KYNU|CCDS2183.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KYNU|CCDS2183.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 2 3 2 29 23 29 23 3 2 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739390528 2 212264870 GC G 540 PASS ERBB4 CCDS2394.1 r.? - - Del intronic D 212264870 212264875 1 28 483.306 - - 4 1 1 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ERBB4|CCDS2394.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 13 21 13 0 0 ./. 3 6 4 9 26 26 26 26 4 9 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739396342 2 228183414 CG C 300 PASS COL4A3 CCDS42829.1 r.? - - Del downstream D 228183414 228183416 1 12 268.236 - - 1 1 1 COL4A3|CCDS42829.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 COL4A3|CCDS42829.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 15 12 15 0 0 ./. 3 2 4 6 36 43 36 43 4 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739412708 20 29645522 TAATTAGTTC T 276 PASS - - - - - Del - D 29645522 29645535 9 11 543.312 - - 1 1 1 - - ./. 0 0 0 0 160 124 160 124 0 0 ./. 10 0 15 0 314 249 314 249 15 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739419508 20 48060578 GA G 360 PASS KCNB1 CCDS13418.1 r.? - - Del intronic D 48060578 48060582 1 15 325.987 - - 3 1 1 KCNB1|CCDS13418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNB1|CCDS13418.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 2 4 2 6 27 25 27 25 2 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739420935 20 50976604 C CT 720 PASS - - - - - Ins - I 50976604 50976613 1 40 643.545 - - 8 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 9 4 10 20 35 20 35 4 10 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739424633 20 61455603 GTGCGGAGTGGCCTCCTGGGGTCCCGTCACTGA G 354 PASS COL9A3 CCDS13505.1 r.? - - Del intronic D 61455603 61455659 32 30 458.877 - - 1 1 1 COL9A3|CCDS13505.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL9A3|CCDS13505.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 4 5 0 0 20 24 20 24 4 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739461064 3 8546403 C CT 300 PASS LMCD1 CCDS33688.1 r.? - - Ins intronic I 8546403 8546413 1 12 260.929 - - 9 1 1 LMCD1|CCDS33688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LMCD1|CCDS33688.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 16 12 16 0 0 ./. 2 3 2 3 40 37 41 37 2 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739462437 3 11905959 ATGT A 481 PASS - - - - - Del - D 11905959 11905965 3 30 591.984 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 9 2 8 3 38 28 39 28 9 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739466312 3 23556078 T TTTA 360 PASS UBE2E2 CCDS2637.1 r.? - - Ins intronic I 23556078 23556099 3 15 310.586 - - 6 1 - UBE2E2|CCDS2637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UBE2E2|CCDS2637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 4 2 5 2 24 16 24 17 5 2 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739475898 3 50671920 TTC T 300 PASS MAPKAPK3 CCDS2832.1 r.? - - Del intronic D 50671920 50671924 2 10 268.153 - - 1 1 1 MAPKAPK3|CCDS2832.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAPKAPK3|CCDS2832.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 1 4 1 5 28 36 28 36 1 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739483925 3 73352581 TA T 720 PASS AC103560.1 ENST00000509224 r.? - - Del intronic D 73352581 73352585 1 48 644.652 - - 3 1 1 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 18 16 18 0 0 ./. 5 7 7 8 30 34 30 34 7 8 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739544780 4 49193631 AAGTT A 376 PASS - - - - - Del - D 49193631 49193636 4 14 699.889 - - 1 1 1 - - ./. 0 0 0 0 39 21 39 21 0 0 ./. 13 0 15 0 83 62 83 62 15 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739544970 4 49273901 TG T 276 PASS - - - - - Del - D 49273901 49273904 1 10 478.518 - - 2 1 1 - - ./. 0 0 0 0 51 49 51 49 0 0 ./. 0 9 0 11 124 138 124 138 0 11 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739597689 5 4340421 CT C 420 PASS - - - - - Del - D 4340421 4340428 1 20 373.235 - - 6 1 1 - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 3 4 5 6 26 26 26 26 5 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739603722 5 21015900 C CA 329 PASS - - - - - Ins - I 21015900 21015907 1 15 319.916 - - 6 1 1 - - ./. 0 0 0 0 9 20 9 20 0 0 ./. 2 4 3 5 21 36 21 36 3 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739617605 5 63227729 AT A 300 PASS - - - - - Del - D 63227729 63227732 1 10 267.801 - - 2 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 4 1 6 36 29 36 29 1 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739618700 5 66349707 CAT C 360 PASS MAST4 CCDS47225.1 r.? - - Del intronic D 66349707 66349713 2 12 322.324 - - 2 1 1 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAST4|CCDS47225.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 17 13 17 0 0 ./. 5 1 6 2 33 19 33 19 6 2 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739620862 5 73579765 CT C 600 PASS - - - - - Del - D 73579765 73579768 1 35 539.214 - - 2 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 4 6 8 7 33 27 33 27 8 7 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739626918 5 91231942 G GT 300 PASS - - - - - Ins - I 91231942 91231951 1 12 266.597 - - 8 1 1 - - ./. 0 0 0 0 11 16 11 16 0 0 ./. 3 2 5 3 30 31 30 31 5 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739628577 5 97028937 GA G 300 PASS - - - - - Del - D 97028937 97028939 1 6 268.403 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 0 5 0 35 19 35 19 5 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739629886 5 101070763 G GA 300 PASS - - - - - Ins - I 101070763 101070773 1 12 266.597 - - 9 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 3 2 3 2 26 18 26 18 3 2 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739640957 5 135065387 GA G 960 PASS - - - - - Del - D 135065387 135065391 1 81 859.732 - - 3 1 1 - - ./. 0 0 0 0 17 9 17 9 0 0 ./. 8 8 9 8 33 29 33 29 9 8 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739648148 5 156394331 C CA 509 PASS TIMD4 CCDS4332.1 r.? - - Ins upstream I 156394331 156394338 1 30 479.874 - - 6 1 - TIMD4|CCDS4332.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 TIMD4|CCDS4332.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 7 20 7 20 0 0 ./. 4 5 6 6 31 32 31 32 6 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739654634 5 174467324 GT G 480 PASS - - - - - Del - D 174467324 174467328 1 24 431.371 - - 3 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 5 3 7 4 35 16 35 16 8 4 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739662987 6 14105306 G GA 300 PASS - - - - - Ins - I 14105306 14105316 1 10 264.766 - - 9 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 1 4 1 4 40 43 41 43 1 4 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739664856 6 18392098 CA C 300 PASS RNF144B CCDS34345.1 r.? - - Del intronic D 18392098 18392108 1 6 266.572 - - 9 1 1 RNF144B|CCDS34345.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RNF144B|CCDS34345.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 0 5 0 5 22 43 22 43 0 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739676594 6 45935526 AAG A 360 PASS CLIC5 CCDS47438.1 r.? - - Del intronic D 45935526 45935545 2 12 323.498 - - 9 1 1 CLIC5|CCDS47438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CLIC5|CCDS47438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 1 5 1 6 19 30 19 30 1 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739682224 6 63148478 CT C 600 PASS - - - - - Del - D 63148478 63148481 1 32 539.164 - - 2 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 7 3 8 3 30 20 30 20 8 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739693273 6 96075457 TCA T 300 PASS - - - - - Del - D 96075457 96075476 2 6 269.582 - - 9 1 1 - - ./. 0 0 0 0 20 11 20 11 0 0 ./. 5 0 5 0 39 26 39 26 5 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739694024 6 98549687 G GT 300 PASS - - - - - Ins - I 98549687 98549697 1 12 265.368 - - 9 1 1 - - ./. 0 0 0 0 19 22 19 23 0 0 ./. 2 3 2 3 37 45 37 45 2 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739699911 6 114958252 TA T 480 PASS - - - - - Del - D 114958252 114958255 1 21 429.525 - - 2 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 2 6 2 6 20 30 20 30 2 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739700412 6 116737049 TAACA T 420 PASS DSE CCDS5107.1 r.? - - Del intronic D 116737049 116737056 4 20 377.415 - - 1 1 1 DSE|CCDS5107.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DSE|CCDS5107.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 3 4 3 6 26 23 26 23 3 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739708832 6 142052759 CA C 420 PASS - - - - - Del - D 142052759 142052763 1 20 377.415 - - 3 1 1 - - ./. 0 0 0 0 8 22 8 22 0 0 ./. 3 4 3 7 20 34 20 34 3 7 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739715439 6 161146340 AT A 480 PASS PLG CCDS5279.1 r.? - - Del intronic D 161146340 161146344 1 24 430.127 - - 3 1 1 PLG|CCDS5279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLG|CCDS5279.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 14 19 14 0 0 ./. 5 3 5 3 30 27 30 27 5 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739723331 7 10285566 CT C 420 PASS - - - - - Del - D 10285566 10285568 1 20 377.494 - - 1 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 4 6 5 24 21 24 21 6 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739733854 7 39835678 CAT C 444 PASS - - - - - Del - D 39835678 39835681 2 13 646.53 - - 1 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 12 0 13 0 35 7 35 7 13 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739738646 7 53173130 AAG A 420 PASS - - - - - Del - D 53173130 53173138 2 20 377.494 - - 3 1 1 - - ./. 0 0 0 0 16 8 16 8 0 0 ./. 4 3 5 3 26 18 26 18 5 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739759594 7 107734373 G GA 300 PASS LAMB4 CCDS34732.1 r.? - - Ins intronic I 107734373 107734383 1 12 264.822 - - 9 1 1 LAMB4|CCDS34732.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LAMB4|CCDS34732.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 2 3 2 3 39 36 39 36 2 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739764726 7 125036993 TA T 420 PASS - - - - - Del - D 125036993 125036997 1 20 375.688 - - 3 1 1 - - ./. 0 0 0 0 16 7 16 7 0 0 ./. 3 4 6 7 24 29 24 29 6 7 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739766150 7 128825497 TAC T 300 PASS SMO CCDS5811.1 r.? - - Del upstream D 128825497 128825515 2 12 268.434 - - 8 1 - SMO|CCDS5811.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AC011005.1|ENST00000514496|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 18 18 18 0 0 ./. 2 3 2 4 31 29 31 29 2 4 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739775904 7 153059458 CT C 540 PASS - - - - - Del - D 153059458 153059463 1 28 484.747 - - 4 1 1 - - ./. 0 0 0 0 14 18 14 18 0 0 ./. 3 6 5 6 23 20 23 20 5 6 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739776337 7 154394086 G GA 480 PASS DPP6 ENST00000404039 r.? - - Ins intronic I 154394086 154394095 1 24 426.605 - - 8 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 10 7 10 0 0 ./. 3 5 5 5 15 13 15 13 5 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739795707 8 49632928 AG A 300 PASS EFCAB1 CCDS6145.1 r.? - - Del intronic D 49632928 49632931 1 12 270.051 - - 2 1 1 EFCAB1|CCDS6145.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 EFCAB1|CCDS6145.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 10 16 10 0 0 ./. 3 2 4 4 29 27 29 27 4 4 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739805896 8 81319363 AC A 300 PASS - - - - - Del - D 81319363 81319365 1 10 270.051 - - 1 1 - - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 1 5 1 36 31 36 31 5 1 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739816369 8 114541709 AG A 600 PASS - - - - - Del - D 114541709 114541711 1 35 540.102 - - 1 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 4 7 5 24 23 24 23 7 5 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739818911 8 122827039 GA G 360 PASS - - - - - Del - D 122827039 122827042 1 16 323.459 - - 2 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 3 3 3 3 25 22 25 22 3 3 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739878351 X 61866836 TC T 360 PASS - - - - - Del - D 61866836 61866838 1 12 325.828 - - 1 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 1 5 4 10 24 139 24 139 4 10 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739893552 Y 13691738 AAAACGAATGGAATGG A 394 PASS - - - - - Del - D 13691738 13691771 15 15 768.348 - - 2 1 1 - - ./. 0 0 0 0 56 55 64 68 0 0 ./. 14 0 15 0 262 78 362 79 18 0 1 1 1 1 1 1 1 1 2725440 PD20345a PD20345b 2739894030 Y 23900648 G GCTCTA 319 PASS - - - - - Ins - I 23900648 23900649 5 36 570.589 - - 0 1 1 - - ./. 0 0 0 0 3 10 3 10 0 0 ./. 3 8 4 9 16 28 16 29 4 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744741845 1 40289305 GA G 806 PASS - - - - - Del - D 40289305 40289314 1 64 751.25 - - 8 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 7 7 11 13 22 34 22 34 11 13 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744746948 1 55387656 TGTGTAGCAGCTTGAAAGAGTTGGAGCCTCTAGGAAGAAAGCATTCTTTCATTGTAGGTGGAAAACTAATTGTTTCCCTTGGCTTA T 348 PASS - - - - - Del - D 55387656 55387746 85 45 644.96 - - 1 1 1 - - ./. 0 0 0 0 12 16 12 16 0 0 ./. 4 8 0 0 15 18 19 26 4 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744755415 1 82083697 GA G 600 PASS LPHN2 ENST00000370728 r.? - - Del intronic D 82083697 82083700 1 32 535.059 - - 2 1 1 LPHN2|ENST00000370728|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LPHN2|ENST00000370728|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 7 3 11 5 19 16 19 16 11 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744756001 1 83958171 GT G 1020 PASS - - - - - Del - D 83958171 83958174 1 78 913.092 - - 2 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 5 12 5 12 19 30 19 30 5 12 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744769719 1 143256239 TC T 259 PASS - - - - - Del - D 143256239 143256244 1 8 376.227 - - 4 1 1 - - ./. 0 0 0 0 9 24 9 24 0 0 ./. 0 7 1 7 44 73 44 73 1 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744770142 1 143519028 AT A 423 PASS - - - - - Del - D 143519028 143519031 1 16 803.792 - - 2 1 1 - - ./. 0 0 0 0 44 45 44 45 0 0 ./. 15 0 21 0 165 107 165 107 21 0 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744770957 1 145170498 G GTATATATA 377 PASS - - - - - Ins - I 145170498 145170513 8 14 633.685 - - 7 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 13 0 13 0 79 49 81 50 13 0 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744773022 1 150098501 A AT 277 PASS VPS45 CCDS944.1 r.? - - Ins intronic I 150098501 150098511 1 12 265.723 - - 9 1 1 VPS45|CCDS944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS45|CCDS944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 2 5 5 27 37 27 38 5 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744776728 1 157627935 GA G 960 PASS - - - - - Del - D 157627935 157627945 1 77 857.539 - - 9 1 1 - - ./. 0 0 0 0 16 10 16 10 0 0 ./. 10 6 16 8 53 36 53 36 16 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744779166 1 164141866 A AG 660 PASS - - - - - Ins - I 164141866 164141874 1 40 570.142 - - 7 1 1 - - ./. 0 0 0 0 5 18 5 18 0 0 ./. 7 4 9 6 29 47 29 48 9 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744779913 1 166025522 TAG T 300 PASS - - - - - Del - D 166025522 166025538 2 10 267.529 - - 7 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 1 4 2 6 41 50 41 50 2 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744781902 1 171374963 GAGACAA G 261 PASS - - - - - Del - D 171374963 171374983 6 24 483.72 - - 3 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 7 2 10 4 40 37 41 37 11 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744784725 1 179370413 AG A 300 PASS C1orf125 CCDS30948.1 r.? - - Del intronic D 179370413 179370415 1 6 266.325 - - 1 1 - C1orf125|CCDS30948.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf125|CCDS30948.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 0 9 0 38 11 38 11 9 0 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744786443 1 183328868 G GA 540 PASS NMNAT2 CCDS1353.1 r.? - - Ins intronic I 183328868 183328873 1 30 476.496 - - 4 1 1 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NMNAT2|CCDS1353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 13 7 13 0 0 ./. 4 5 6 8 34 38 34 38 6 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744792076 1 198827133 T TA 300 PASS MIR181B1 ENST00000385240 r.? - - Ins downstream I 198827133 198827143 1 10 265.121 - - 9 1 1 MIR181B1|ENST00000385240|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 MIR181B1|ENST00000385240|r.?|-|-|non_protein_coding:insertion:5KB_downstream_variant|SO:0000011:SO:0000667:SO:0001633 ./. 0 0 0 0 8 9 9 9 0 0 ./. 1 4 1 5 40 48 40 48 1 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744794570 1 203922621 G GA 960 PASS - - - - - Ins - I 203922621 203922631 1 77 828.038 - - 9 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 6 10 7 13 35 52 35 52 7 13 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744795753 1 206860835 GT G 900 PASS MAPKAPK2 CCDS31001.1 r.? - - Del intronic D 206860835 206860838 1 70 806.201 - - 2 1 1 MAPKAPK2|CCDS31001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAPKAPK2|CCDS31001.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 9 7 13 34 42 34 42 7 13 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744798751 1 214443487 CTTA C 389 PASS - - - - - Del - D 214443487 214443492 3 18 375.023 - - 1 1 1 - - ./. 0 0 0 0 21 12 21 12 0 0 ./. 2 5 3 5 35 40 35 40 3 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744804445 1 228013564 C CT 780 PASS PRSS38 CCDS1563.1 r.? - - Ins intronic I 228013564 228013573 1 54 686.666 - - 8 1 1 PRSS38|CCDS1563.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRSS38|CCDS1563.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 17 6 17 0 0 ./. 8 5 12 11 39 45 39 45 12 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744808933 1 238223079 CAG C 300 PASS - - - - - Del - D 238223079 238223095 2 10 267.529 - - 7 1 1 - - ./. 0 0 0 0 6 10 6 10 0 0 ./. 1 4 2 5 49 54 49 54 2 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744810271 1 241246554 G GAAACAAAACA 261 PASS RGS7 CCDS31071.1 r.? - - Ins intronic I 241246554 241246586 10 24 429.535 - - 6 1 1 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 7 2 4 1 63 46 63 47 9 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744814008 1 248854075 AC A 420 PASS - - - - - Del - D 248854075 248854078 1 18 371.41 - - 2 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 2 5 3 7 33 36 33 36 3 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744829460 10 39061823 C CA 745 PASS - - - - - Ins - I 39061823 39061828 1 66 800.303 - - 4 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 5 10 6 11 19 30 19 30 6 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744834623 10 56382012 ATG A 300 PASS PCDH15 CCDS44404.1 r.? - - Del intronic D 56382012 56382028 2 10 269.778 - - 7 1 1 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCDH15|CCDS44404.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 1 4 1 4 7 29 7 29 1 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744842084 10 77091372 C CA 929 PASS - - - - - Ins - I 77091372 77091380 1 77 851.248 - - 7 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 6 10 7 13 26 27 26 27 7 13 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744844017 10 83426352 T TA 360 PASS - - - - - Ins - I 83426352 83426355 1 16 317.111 - - 2 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 3 6 5 25 20 25 20 6 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744856740 10 120733785 C CT 300 PASS - - - - - Ins - I 120733785 120733795 1 12 264.359 - - 9 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 2 3 3 3 26 30 28 30 3 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744857816 10 123383454 G GGGAA 867 PASS - - - - - Ins - I 123383454 123383460 4 77 824.156 - - 1 1 1 - - ./. 0 0 0 0 12 9 12 10 0 0 ./. 10 6 14 6 40 20 40 20 14 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744858338 10 124492636 G GA 600 PASS - - - - - Ins - I 124492636 124492643 1 32 532.331 - - 6 1 1 - - ./. 0 0 0 0 17 11 17 11 0 0 ./. 7 3 9 7 28 28 28 28 9 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744871626 11 25485041 T TG 300 PASS - - - - - Ins - I 25485041 25485047 1 10 265.461 - - 5 1 1 - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 4 1 8 5 25 30 25 30 8 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744876355 11 38932111 GT G 600 PASS - - - - - Del - D 38932111 38932117 1 32 540.556 - - 5 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 7 9 13 34 40 34 40 9 13 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744880086 11 48910888 T TA 725 PASS - - - - - Ins - I 48910888 48910894 1 54 694.896 - - 5 1 1 - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 8 6 10 23 28 24 28 6 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744886232 11 69653191 TA T 900 PASS - - - - - Del - D 69653191 69653198 1 66 810.834 - - 6 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 10 10 17 36 48 36 48 10 17 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744887172 11 72481028 ATGAGAAACTTC A 319 PASS STARD10 CCDS41688.1 r.? - - Del intronic D 72481028 72481041 11 42 594.611 - - 1 1 1 STARD10|CCDS41688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STARD10|CCDS41688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 6 5 6 6 23 29 23 29 6 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744893859 11 92772381 GTATT G 1047 PASS - - - - - Del - D 92772381 92772389 4 108 1026.45 - - 1 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 8 11 8 13 21 30 21 30 8 13 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744896880 11 101527508 A AA 269 PASS - - - - - Ins - I 101527506 101527509 1 12 265.461 - - 2 1 1 - - ./. 0 0 0 0 0 14 0 14 0 0 ./. 2 3 0 1 10 35 10 35 2 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744900183 11 110300595 ACCGGGCGGCGTGGGCGTGAGAGG A 493 PASS FDX1 CCDS8344.1 r.3_25del23 c.? p.? Del 5'UTR variant D 110300595 110300620 23 84 907.506 - - 1 1 1 FDX1|CCDS8344.1|r.3_25del23|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 FDX1|CCDS8344.1|r.3_25del23|c.?|p.?|protein_coding:five_prime_UTR:exon:deletion:5_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000204:SO:0000147:SO:0000159:SO:0001623:SO:0001576 ./. 0 0 0 0 6 6 6 6 0 0 ./. 6 11 6 11 29 25 30 25 7 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744901364 11 113799057 AACTG A 776 PASS HTR3B CCDS8364.1 r.? - - Del intronic D 113799057 113799063 4 72 810.834 - - 1 1 1 HTR3B|CCDS8364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 HTR3B|CCDS8364.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 13 14 13 0 0 ./. 7 8 7 11 25 28 25 28 7 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744902059 11 115600286 ACC A 749 PASS - - - - - Del - D 115600286 115600290 2 50 702.722 - - 3 1 1 - - ./. 0 0 0 0 6 15 6 15 0 0 ./. 4 9 6 12 21 29 21 29 6 12 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744903407 11 119127991 A AT 1080 PASS CBL CCDS8418.1 r.? - - Ins intronic I 119127991 119127998 1 96 962.163 - - 6 1 1 CBL|CCDS8418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CBL|CCDS8418.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 11 7 16 11 30 31 32 31 16 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744906254 11 127332578 G GA 780 PASS - - - - - Ins - I 127332578 127332584 1 44 694.896 - - 5 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 3 10 4 17 18 28 18 29 4 17 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744906354 11 127687195 T TG 269 PASS - - - - - Ins - I 127687195 127687196 1 12 266.063 - - 0 1 - - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 2 3 0 1 30 31 30 31 2 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744907485 11 131202215 C CT 1260 PASS - - - - - Ins - I 131202215 131202223 1 132 1120.72 - - 7 1 1 - - ./. 0 0 0 0 9 17 9 17 0 0 ./. 10 11 18 17 34 44 34 44 18 17 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744916137 12 19091556 GTTTTCTCATATGTAAAAAAA G 754 PASS - - - - - Del - D 19091556 19091578 20 171 1405.83 - - 1 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 8 18 7 16 26 33 27 35 8 18 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744920289 12 30223613 G GA 300 PASS - - - - - Ins - I 30223613 30223623 1 12 266.739 - - 9 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 2 3 2 3 41 38 42 38 2 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744922283 12 38308931 GT G 900 PASS - - - - - Del - D 38308931 38308935 1 72 811.054 - - 3 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 8 7 14 9 32 27 32 27 14 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744924710 12 45703361 T TC 360 PASS ANO6 CCDS31782.1 r.? - - Ins intronic I 45703361 45703365 1 15 318.401 - - 3 1 1 ANO6|CCDS31782.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANO6|CCDS31782.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 2 5 4 33 39 33 39 5 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744925280 12 47755956 TTC T 300 PASS - - - - - Del - D 47755956 47755974 2 10 267.943 - - 8 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 1 4 1 6 24 25 24 25 1 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744932140 12 67825976 C CA 540 PASS - - - - - Ins - I 67825976 67825984 1 30 479.408 - - 7 1 1 - - ./. 0 0 0 0 9 16 9 16 0 0 ./. 5 4 11 7 28 28 29 29 11 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744935753 12 78982612 GTA G 267 PASS - - - - - Del - D 78982612 78982621 2 16 324.422 - - 4 1 - - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 3 3 3 5 37 39 37 39 3 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744935931 12 79676143 AG A 900 PASS SYT1 CCDS9017.1 r.? - - Del intronic D 79676143 79676145 1 70 811.054 - - 1 1 1 SYT1|CCDS9017.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SYT1|CCDS9017.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 9 6 11 10 30 22 30 22 11 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744937051 12 83466839 A AT 600 PASS TMTC2 CCDS9025.1 r.? - - Ins intronic I 83466839 83466847 1 35 534.08 - - 7 1 1 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMTC2|CCDS9025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 6 4 10 7 30 31 30 31 10 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744939134 12 90330777 ATT A 540 PASS - - - - - Del - D 90330777 90330783 2 30 486.03 - - 5 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 4 7 9 18 33 18 33 7 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744941530 12 96791747 TATGACTGTTCGTAC T 319 PASS CDK17 CCDS9061.1 r.? - - Del intronic D 96791747 96791763 14 40 592.967 - - 1 1 1 CDK17|CCDS9061.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CDK17|CCDS9061.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 7 4 5 17 28 17 30 4 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744943819 12 103798585 G GA 660 PASS C12orf42 CCDS44963.1 r.? - - Ins intronic I 103798585 103798593 1 40 588.15 - - 7 1 1 C12orf42|CCDS44963.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C12orf42|CCDS44963.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 7 6 11 18 40 18 40 6 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744950841 12 122242657 A AC 540 PASS SETD1B ENST00000267197 r.20_21insc c.14_15insC p.H8fs*30 Ins frameshift I 122242657 122242666 1 30 462.55 - - 8 1 1 SETD1B|ENST00000267197|r.20_21insc|c.14_15insC|p.H8fs*30|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 SETD1B|ENST00000267197|r.20_21insc|c.14_15insC|p.H8fs*30|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 18 15 18 15 0 0 ./. 4 5 7 1 28 21 28 22 7 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744950971 12 122491218 GAAGT G 296 PASS BCL7A CCDS9226.1 r.? - - Del intronic D 122491218 122491227 4 18 377.89 - - 2 1 1 BCL7A|CCDS9226.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCL7A|CCDS9226.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 5 2 6 3 19 22 19 22 6 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744958621 13 24915620 G GA 478 PASS - - - - - Ins - I 24915620 24915627 1 30 482.398 - - 6 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 5 6 5 28 18 28 18 6 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744966960 13 47576201 ACCAGCCT A 406 PASS - - - - - Del - D 47576201 47576209 7 60 758.826 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 5 9 5 10 21 33 22 33 6 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744968185 13 50872237 GT G 1378 PASS - - - - - Del - D 50872237 50872245 1 144 1297.23 - - 7 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 7 17 11 18 22 31 22 31 11 18 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744969145 13 54065366 AAG A 360 PASS - - - - - Del - D 54065366 54065373 2 16 325.211 - - 3 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 3 3 4 3 34 25 34 25 4 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744969954 13 56729206 AAAG A 780 PASS - - - - - Del - D 56729206 56729218 3 54 704.022 - - 3 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 8 7 13 21 38 21 38 7 13 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744977402 13 78330301 G GT 600 PASS SLAIN1 CCDS31995.1 r.? - - Ins intronic I 78330301 78330311 1 35 534.794 - - 9 1 1 SLAIN1|CCDS31995.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLAIN1|CCDS31995.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 11 17 11 0 0 ./. 6 4 6 8 23 25 23 26 6 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744980076 13 87246605 C CAAAA 509 PASS - - - - - Ins - I 87246605 87246607 4 30 466.143 - - 1 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 4 7 5 26 25 26 26 7 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744985007 13 101209187 ATGCAATCTTGGCTCAC A 257 PASS A2LD1 CCDS45066.1 r.? - - Del intronic D 101209187 101209225 16 35 542.019 - - 2 1 1 A2LD1|CCDS45066.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 A2LD1|CCDS45066.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 4 6 4 5 24 20 24 21 4 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744988240 13 110136094 C CA 480 PASS - - - - - Ins - I 110136094 110136102 1 21 428.799 - - 7 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 2 8 6 26 23 26 23 8 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2744999105 14 41990145 A ACACT 287 PASS - - - - - Ins - I 41990145 41990146 4 12 570.269 - - 0 1 1 - - ./. 0 0 0 0 4 10 4 12 0 0 ./. 11 0 12 0 56 34 56 42 12 0 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745000030 14 44455228 A AAT 329 PASS - - - - - Ins - I 44455228 44455229 2 15 315.872 - - 0 1 1 - - ./. 0 0 0 0 8 14 9 15 0 0 ./. 4 2 0 0 38 37 38 37 4 2 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745002298 14 50493195 GA G 480 PASS - - - - - Del - D 50493195 50493203 1 24 408.118 - - 7 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 3 11 7 46 27 46 27 11 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745003284 14 52395955 GT G 420 PASS GNG2 CCDS32082.1 r.? - - Del intronic D 52395955 52395957 1 14 379.756 - - 1 1 1 GNG2|CCDS32082.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GNG2|CCDS32082.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 1 7 4 40 31 40 31 7 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745007925 14 63206162 A AT 420 PASS KCNH5 CCDS9756.1 r.? - - Ins intronic I 63206162 63206172 1 20 375.542 - - 9 1 1 KCNH5|CCDS9756.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNH5|CCDS9756.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 17 11 17 0 0 ./. 3 4 5 6 47 31 47 31 5 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745022476 15 25402168 ATAGT A 600 PASS - - - - - Del - D 25402168 25402177 4 36 542.724 - - 2 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 5 5 8 9 18 30 18 30 8 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745022588 15 25715880 CAGGTGATA C 348 PASS - - - - - Del - D 25715880 25715889 8 48 651.269 - - 1 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 5 7 6 10 23 28 23 28 6 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745022632 15 25843775 CGGAGT C 466 PASS - - - - - Del - D 25843775 25843783 5 70 814.086 - - 1 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 6 9 9 10 26 27 26 28 9 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745024282 15 30968369 GAC G 1260 PASS ARHGAP11B CCDS32185.1 r.? - - Del intronic D 30968369 30968373 2 130 1138.52 - - 1 1 1 ARHGAP11B|CCDS32185.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ARHGAP11B|CCDS32185.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 6 8 6 0 0 ./. 9 12 12 14 30 26 30 26 12 14 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745044144 15 85405085 C CT 660 PASS ALPK3 CCDS10333.1 r.? - - Ins intronic I 85405085 85405094 1 42 589.771 - - 8 1 1 ALPK3|CCDS10333.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ALPK3|CCDS10333.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 15 10 0 0 ./. 5 6 10 11 29 36 30 38 10 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745044727 15 86660546 C CT 838 PASS - - - - - Ins - I 86660546 86660555 1 66 799.636 - - 8 1 1 - - ./. 0 0 0 0 14 6 14 6 0 0 ./. 5 10 8 10 34 30 35 31 9 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745047742 15 95374535 TG T 600 PASS - - - - - Del - D 95374535 95374540 1 32 542.724 - - 4 1 1 - - ./. 0 0 0 0 13 21 13 21 0 0 ./. 7 3 10 6 37 27 37 27 10 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745048717 15 98364054 CAT C 840 PASS AC027708.1 ENST00000503768 r.? - - Del intronic D 98364054 98364058 2 60 759.211 - - 1 1 1 AC027708.1|ENST00000503768|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC027708.1|ENST00000503768|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 9 5 12 8 29 30 29 30 12 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745058641 16 16567310 TAA T 278 PASS - - - - - Del - D 16567310 16567314 2 11 541.017 - - 3 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 0 10 0 15 32 66 32 66 0 15 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745060231 16 20158664 GGGGAA G 958 PASS - - - - - Del - D 20158664 20158673 5 90 919.729 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 8 9 11 11 40 40 40 40 11 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745066175 16 32347391 GA G 259 PASS - - - - - Del - D 32347391 32347398 1 10 482.701 - - 6 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 9 0 8 0 37 26 38 26 9 0 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745067646 16 33638513 A AT 267 PASS - - - - - Ins - I 33638513 33638523 1 12 587.894 - - 9 1 1 - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 0 11 0 18 1 65 1 65 0 18 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745069684 16 46991529 TA T 277 PASS DNAJA2 CCDS10726.1 r.? - - Del intronic D 46991529 46991537 1 6 261.478 - - 7 1 1 DNAJA2|CCDS10726.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJA2|CCDS10726.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 0 5 1 0 36 33 36 33 1 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745070163 16 48618442 CTCTA C 778 PASS N4BP1 CCDS45479.1 r.? - - Del intronic D 48618442 48618452 4 39 756.822 - - 2 1 1 N4BP1|CCDS45479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 N4BP1|CCDS45479.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 16 6 16 0 0 ./. 2 12 3 11 37 40 37 41 3 12 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745082610 16 77246767 TC T 840 PASS SYCE1L CCDS45533.1 r.669delC c.669delC p.R225fs*>68 Del frameshift D 77246767 77246773 1 55 754.413 - - 5 1 1 SYCE1L|CCDS45533.1|r.669delC|c.669delC|p.R225fs*>68|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 SYCE1L|CCDS45533.1|r.669delC|c.669delC|p.R225fs*>68|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 11 12 11 12 0 0 ./. 10 4 11 6 41 32 41 32 11 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745093599 17 11169716 GAATGAGAACCTGTAATTTGGTGAAATCACTTGGCAATTAGAGTTTGAGAAGCACTGGGAAAGCTTGAGCATTGAAGTATGTTCCTCAGTTTGCTTTTTGGCCCTGTCTCTTACTATGTATGTGATCTTGGGCAAGATTCTTTGTCTTTCCAAGTTTCTTTGTCTGCTATTGAAGCCAATCATACCTGTAGGTCAGAGTTGTTTTAATGGTATAATCAGTTAAACCAAGTAAAGCACTTAAGACAGGTCCCCATACATAGCAAACACTGACTGTTAGCCATGACCAGGCTATGAAGGCACATCCACAGCTC GGAAAGGT 290 PASS SHISA6 CCDS45615.1 r.? - - Complex intronic DI 11169717 11170026 310 36 0 - - 0 1 1 SHISA6|CCDS45615.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 SHISA6|CCDS45615.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 5 0 0 13 22 18 27 5 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745099278 17 25958795 CACTCCCAGGGTTGGGAT C 348 PASS LGALS9 CCDS11222.1 r.? - - Del intronic D 25958795 25958814 17 49 649.895 - - 1 1 1 LGALS9|CCDS11222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LGALS9|CCDS11222.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 6 6 5 6 24 24 25 24 6 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745099371 17 26339052 GGA G 300 PASS - - - - - Del - D 26339052 26339068 2 10 271.041 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 1 4 1 4 29 46 29 46 1 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745110000 17 52127321 C CA 720 PASS - - - - - Ins - I 52127321 52127327 1 49 643.273 - - 5 1 1 - - ./. 0 0 0 0 15 10 15 10 0 0 ./. 6 6 11 10 26 36 26 36 11 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745111640 17 56889391 G GA 1140 PASS PPM1E CCDS11613.1 r.? - - Ins intronic I 56889391 56889400 1 98 1015.5 - - 8 1 1 PPM1E|CCDS11613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPM1E|CCDS11613.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 6 13 9 16 28 33 28 33 9 16 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745112984 17 60295143 G GT 780 PASS - - - - - Ins - I 60295143 60295152 1 56 696.277 - - 8 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 6 7 11 8 33 31 35 31 11 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745113390 17 61673634 T TG 720 PASS KCNH6 CCDS11638.1 r.? - - Ins intronic I 61673634 61673639 1 48 643.273 - - 4 1 1 KCNH6|CCDS11638.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 KCNH6|CCDS11638.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 5 7 11 11 28 34 28 34 11 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745115868 17 67489126 A AT 420 PASS MAP2K6 CCDS11686.1 r.? - - Ins intronic I 67489126 67489136 1 20 375.242 - - 9 1 1 MAP2K6|CCDS11686.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAP2K6|CCDS11686.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 20 3 20 0 0 ./. 4 3 4 3 35 34 36 34 4 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745121594 18 71885 AAAAAG A 337 PASS - - - - - Del - D 71885 71897 5 14 700.647 - - 2 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 13 0 17 0 35 27 35 27 17 0 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745125666 18 9655393 C CT 960 PASS - - - - - Ins - I 9655393 9655402 1 80 858.629 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 7 9 12 12 28 30 29 31 12 12 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745131645 18 29049777 TATTA T 600 PASS DSG3 CCDS11898.1 r.? - - Del intronic D 29049777 29049795 4 36 542.664 - - 4 1 1 DSG3|CCDS11898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DSG3|CCDS11898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 5 7 5 21 21 21 21 7 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745135924 18 43064694 GTC G 300 PASS - - - - - Del - D 43064694 43064712 2 12 270.73 - - 8 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 3 2 3 3 33 29 33 29 3 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745144223 18 67138821 G GGT 389 PASS DOK6 CCDS32841.1 r.? - - Ins intronic I 67138821 67138822 2 18 359.395 - - 0 1 1 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 2 5 0 0 20 16 20 16 2 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745147168 18 75326196 TTCATCTATATCTATCTA T 319 PASS - - - - - Del - D 75326196 75326250 17 22 596.328 - - 3 1 - - - ./. 0 0 0 0 10 15 11 15 0 0 ./. 1 10 1 1 28 44 32 50 1 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745148641 19 1659748 G GA 1020 PASS - - - - - Ins - I 1659748 1659753 1 90 909.402 - - 4 1 1 - - ./. 0 0 0 0 12 6 12 6 0 0 ./. 8 9 11 13 35 29 35 29 11 13 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745155009 19 14399538 A AG 266 PASS - - - - - Ins - I 14399538 14399542 1 11 536.111 - - 3 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 10 0 4 0 31 30 37 30 10 0 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745155985 19 16155526 C CT 329 PASS ENSG00000167459 ENST00000397365 r.? - - Ins downstream I 16155526 16155527 1 15 322.028 - - 0 1 1 ENSG00000167459|ENST00000397365|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000167459|ENST00000397365|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 2 0 1 35 24 35 25 4 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745159484 19 23173071 AG A 636 PASS - - - - - Del - D 23173071 23173074 1 36 595.803 - - 2 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 8 6 9 14 26 14 26 6 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745163084 19 34924988 T TA 780 PASS UBA2 CCDS12439.1 r.? - - Ins intronic I 34924988 34924990 1 56 695.319 - - 1 1 1 UBA2|CCDS12439.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 UBA2|CCDS12439.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 12 9 0 0 ./. 7 6 11 11 36 29 36 29 11 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745167257 19 45116139 TG T 1140 PASS ENSG00000216588 ENST00000402988 r.? - - Del upstream D 45116139 45116144 1 108 1028.18 - - 4 1 1 ENSG00000216588|ENST00000402988|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000216588|ENST00000402988|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 17 12 17 0 0 ./. 8 11 15 15 37 31 37 31 15 15 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745174351 19 58841799 TA T 480 PASS ZSCAN22 CCDS12975.1 r.? - - Del intronic D 58841799 58841801 1 25 434.187 - - 1 1 1 ZSCAN22|CCDS12975.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZSCAN22|CCDS12975.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 4 6 6 14 19 14 19 6 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745175220 2 2656804 CAGTT C 536 PASS - - - - - Del - D 2656804 2656811 4 42 592.375 - - 1 1 1 - - ./. 0 0 0 0 9 2 9 2 0 0 ./. 6 5 8 5 28 26 28 26 8 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745176333 2 6173119 G GA 360 PASS - - - - - Ins - I 6173119 6173127 1 16 319.501 - - 7 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 3 3 4 4 32 28 32 28 4 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745177651 2 10171848 G GT 540 PASS - - - - - Ins - I 10171848 10171858 1 30 477.446 - - 9 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 4 12 5 25 30 25 30 12 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745178250 2 11416506 AAAAAT A 749 PASS ROCK2 CCDS42654.1 r.? - - Del intronic D 11416506 11416515 5 54 700.08 - - 1 1 1 ROCK2|CCDS42654.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ROCK2|CCDS42654.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 5 14 5 0 0 ./. 8 5 9 8 28 23 28 23 9 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745180650 2 18888491 ATGTC A 900 PASS - - - - - Del - D 18888491 18888499 4 66 807.784 - - 1 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 10 5 10 9 27 26 27 26 10 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745181350 2 21092410 C CT 780 PASS - - - - - Ins - I 21092410 21092419 1 36 692.253 - - 8 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 11 4 15 24 34 25 34 4 15 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745183316 2 26767389 AT A 600 PASS OTOF CCDS1725.1 r.? - - Del intronic D 26767389 26767395 1 27 537.921 - - 5 1 1 OTOF|CCDS1725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OTOF|CCDS1725.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 8 3 11 18 35 18 35 3 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745193183 2 55051013 CTT C 360 PASS EML6 CCDS46286.1 r.? - - Del intronic D 55051013 55051017 2 16 321.307 - - 3 1 - EML6|CCDS46286.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EML6|CCDS46286.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 9 21 9 0 0 ./. 3 3 4 4 28 39 28 39 4 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745194727 2 60428168 AT A 895 PASS - - - - - Del - D 60428168 60428170 1 66 798.151 - - 1 1 1 - - ./. 0 0 0 0 15 14 15 14 0 0 ./. 10 5 13 7 33 17 33 17 13 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745204943 2 91815250 TGA T 929 PASS - - - - - Del - D 91815250 91815257 2 80 861.034 - - 3 1 1 - - ./. 0 0 0 0 62 67 62 67 0 0 ./. 9 7 12 11 180 185 180 185 12 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745211338 2 113366638 TA T 356 PASS - - - - - Del - D 113366638 113366640 1 21 426.604 - - 1 1 - - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 6 8 5 63 53 63 54 10 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745214781 2 126182481 T TA 360 PASS - - - - - Ins - I 126182481 126182489 1 15 319.501 - - 7 1 1 - - ./. 0 0 0 0 4 12 4 13 0 0 ./. 2 4 3 7 14 22 14 22 3 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745217918 2 135945690 C CA 480 PASS ZRANB3 ENST00000283060 r.? - - Ins intronic I 135945690 135945698 1 9 423.594 - - 7 1 1 ZRANB3|ENST00000283060|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZRANB3|ENST00000283060|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 14 11 0 0 ./. 0 8 10 9 17 13 17 13 10 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745218083 2 136955772 A AT 900 PASS - - - - - Ins - I 136955772 136955779 1 66 798.753 - - 6 1 1 - - ./. 0 0 0 0 15 16 15 16 0 0 ./. 5 10 9 13 13 20 13 20 9 13 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745221311 2 149948704 T TG 1020 PASS LYPD6B CCDS46423.1 r.? - - Ins intronic I 149948704 149948713 1 88 896.223 - - 8 1 1 LYPD6B|CCDS46423.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LYPD6B|CCDS46423.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 7 10 10 16 21 24 21 24 10 16 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745222308 2 153503096 C CG 780 PASS FMNL2 CCDS46429.1 r.? - - Ins intronic I 153503096 153503103 1 44 691.049 - - 6 1 1 FMNL2|CCDS46429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FMNL2|CCDS46429.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 10 3 10 4 23 14 23 14 10 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745234860 2 197598141 G GA 540 PASS CCDC150 CCDS46478.1 r.? - - Ins downstream I 197598141 197598149 1 28 479.252 - - 7 1 1 CCDC150|CCDS46478.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 CCDC150|CCDS46478.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 6 12 6 0 0 ./. 3 6 4 8 35 27 35 27 4 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745249275 20 1817343 T TC 300 PASS - - - - - Ins - I 1817343 1817347 1 12 268.881 - - 3 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 3 2 4 2 31 15 31 15 4 2 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745255859 20 21291276 G GT 420 PASS XRN2 CCDS13144.1 r.? - - Ins intronic I 21291276 21291284 1 18 375.831 - - 7 1 1 XRN2|CCDS13144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 XRN2|CCDS13144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 11 4 12 0 0 ./. 5 2 6 3 24 40 25 41 6 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745256515 20 24077940 TA T 989 PASS - - - - - Del - D 24077940 24077943 1 90 897.337 - - 2 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 8 9 10 10 24 32 24 32 10 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745258939 20 29960349 TA T 300 PASS DEFB118 CCDS13177.1 r.? - - Del intronic D 29960349 29960359 1 12 271.891 - - 9 1 1 DEFB118|CCDS13177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DEFB118|CCDS13177.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 2 3 23 30 23 30 2 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745259884 20 32201533 C CT 900 PASS CBFA2T2 CCDS13221.1 r.? - - Ins intronic I 32201533 32201540 1 60 806.04 - - 6 1 1 CBFA2T2|CCDS13221.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CBFA2T2|CCDS13221.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 4 11 8 17 34 35 34 35 8 17 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745265759 20 48832820 CAG C 300 PASS - - - - - Del - D 48832820 48832840 2 10 271.891 - - 9 1 1 - - ./. 0 0 0 0 5 17 5 17 0 0 ./. 1 4 1 4 15 36 15 36 1 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745267604 20 53302931 TG T 720 PASS - - - - - Del - D 53302931 53302938 1 48 652.538 - - 6 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 7 5 9 7 30 25 30 25 9 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745268100 20 54879223 A AT 1320 PASS - - - - - Ins - I 54879223 54879230 1 135 1180.67 - - 6 1 1 - - ./. 0 0 0 0 22 15 23 15 0 0 ./. 14 8 18 10 45 38 45 38 18 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745270599 20 62649082 A AT 360 PASS ZNF512B CCDS13548.1 r.? - - Ins intronic I 62649082 62649092 1 12 317.84 - - 9 1 1 ZNF512B|CCDS13548.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZNF512B|CCDS13548.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 5 1 5 2 36 48 37 48 5 2 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745275145 21 15861833 C CG 300 PASS SAMSN1 CCDS42906.1 r.? - - Ins intronic I 15861833 15861834 1 12 268.988 - - 0 1 1 SAMSN1|CCDS42906.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SAMSN1|CCDS42906.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 11 5 11 0 0 ./. 2 3 7 4 24 36 24 36 7 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745280911 21 30658031 TA T 1200 PASS - - - - - Del - D 30658031 30658033 1 112 1087.99 - - 1 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 13 7 15 10 40 26 40 26 15 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745281353 21 32152795 C CT 540 PASS - - - - - Ins - I 32152795 32152805 1 28 478.158 - - 9 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 6 6 6 34 32 35 32 6 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745283183 21 36232163 CAT C 747 PASS RUNX1 CCDS42922.1 r.? - - Del intronic D 36232163 36232167 2 48 761.595 - - 1 1 1 RUNX1|CCDS42922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RUNX1|CCDS42922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 11 3 11 4 44 19 44 19 11 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745288388 22 17321107 C CA 545 PASS ENSG00000234339 ENST00000435569 r.? - - Ins upstream I 17321107 17321116 1 35 538.913 - - 8 1 - ENSG00000234339|ENST00000435569|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ENSG00000234339|ENST00000435569|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 6 12 11 21 23 22 23 12 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745293126 22 33057938 A AT 360 PASS Z73979.2 CCDS11576.1 r.? - - Ins intronic I 33057938 33057946 1 16 324.793 - - 7 1 1 Z73979.2|CCDS11576.1|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 Z73979.2|CCDS11576.1|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 3 3 3 3 24 21 24 21 3 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745293758 22 35175084 C CCT 493 PASS - - - - - Ins - I 35175084 35175085 2 32 532.29 - - 0 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 7 0 0 11 21 11 21 3 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745305153 3 15803716 A AC 360 PASS ANKRD28 CCDS46769.1 r.? - - Ins intronic I 15803716 15803717 1 7 317.451 - - 0 1 - ANKRD28|CCDS46769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKRD28|CCDS46769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 0 6 3 4 35 35 35 35 3 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745306018 3 18432882 TA T 298 PASS SATB1 CCDS2631.1 r.? - - Del intronic D 18432882 18432884 1 7 318.655 - - 1 1 1 SATB1|CCDS2631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SATB1|CCDS2631.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 6 0 1 0 44 33 44 33 7 0 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745312471 3 35078185 T TA 989 PASS - - - - - Ins - I 35078185 35078193 1 78 903.357 - - 7 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 12 5 17 8 41 29 42 29 17 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745315186 3 42102849 C CCA 420 PASS - - - - - Ins - I 42102849 42102866 2 20 359.221 - - 8 1 - - - ./. 0 0 0 0 9 5 9 5 0 0 ./. 4 3 9 5 22 18 22 18 9 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745327224 3 71173806 G GGA 360 PASS FOXP1 CCDS2914.1 r.? - - Ins intronic I 71173806 71173807 2 12 312.634 - - 0 1 - FOXP1|CCDS2914.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FOXP1|CCDS2914.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 1 5 0 0 30 30 30 31 1 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745328596 3 74152437 TG T 660 PASS - - - - - Del - D 74152437 74152440 1 42 591.927 - - 2 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 5 6 8 10 35 33 35 33 8 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745334085 3 86739569 CCAGA C 1738 PASS - - - - - Del - D 86739569 86739576 4 231 1610.13 - - 1 1 1 - - ./. 0 0 0 0 3 11 3 11 0 0 ./. 10 20 13 24 30 46 30 46 13 24 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745338655 3 102839340 TC T 329 PASS - - - - - Del - D 102839340 102839342 1 16 312.032 - - 1 1 1 - - ./. 0 0 0 0 2 11 2 11 0 0 ./. 3 3 5 3 31 33 31 33 5 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745340740 3 108554669 C CT 1889 PASS TRAT1 CCDS33813.1 r.? - - Ins intronic I 108554669 108554678 1 285 1685.24 - - 8 1 1 TRAT1|CCDS33813.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TRAT1|CCDS33813.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 11 3 11 0 0 ./. 14 18 18 33 46 70 46 70 18 33 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745343110 3 114282968 ATC A 360 PASS ZBTB20 CCDS2981.1 r.? - - Del intronic D 114282968 114282984 2 15 321.665 - - 7 1 1 ZBTB20|CCDS2981.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ZBTB20|CCDS2981.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 2 5 2 31 31 31 31 5 2 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745344748 3 118842505 CAG C 269 PASS IGSF11 CCDS2983.1 r.? - - Del intronic D 118842505 118842523 2 12 268.456 - - 8 1 1 IGSF11|CCDS2983.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IGSF11|CCDS2983.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 2 3 2 35 47 35 47 3 2 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745348479 3 128081673 AGCTCAAAAGGGTACTCATATCTCAG A 812 PASS EEFSEC CCDS33849.1 r.? - - Del intronic D 128081673 128081701 25 209 1506.12 - - 1 1 1 EEFSEC|CCDS33849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EEFSEC|CCDS33849.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 10 18 8 13 35 40 37 45 10 18 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745350320 3 132649900 TTCA T 1618 PASS - - - - - Del - D 132649900 132649909 3 189 1501.91 - - 2 1 1 - - ./. 0 0 0 0 5 12 5 12 0 0 ./. 8 20 11 23 22 44 22 44 11 23 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745351646 3 136309836 G GT 1020 PASS STAG1 CCDS3090.1 r.? - - Ins intronic I 136309836 136309846 1 70 900.346 - - 9 1 1 STAG1|CCDS3090.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 STAG1|CCDS3090.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 14 5 14 0 0 ./. 4 13 7 22 25 44 25 45 7 22 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745353941 3 142082933 TACTTA T 929 PASS XRN1 CCDS3123.1 r.? - - Del intronic D 142082933 142082944 5 80 860.382 - - 2 1 1 XRN1|CCDS3123.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XRN1|CCDS3123.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 7 9 8 9 35 35 35 35 8 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745355525 3 146187566 CA C 360 PASS PLSCR2 CCDS3134.1 r.? - - Del intronic D 146187566 146187568 1 7 322.267 - - 1 1 1 PLSCR2|CCDS3134.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLSCR2|CCDS3134.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 10 4 10 0 0 ./. 0 6 0 8 35 47 35 47 0 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745360449 3 159543562 G GA 360 PASS SCHIP1 CCDS3186.1 r.? - - Ins intronic I 159543562 159543572 1 16 318.655 - - 9 1 1 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCHIP1|CCDS3186.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 3 3 3 36 50 36 50 3 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745364061 3 169221497 C CA 360 PASS MECOM ENST00000494292 r.? - - Ins intronic I 169221497 169221505 1 12 317.451 - - 7 1 1 MECOM|ENST00000494292|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MECOM|ENST00000494292|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 1 5 2 5 37 40 37 40 2 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745367445 3 177242041 G GT 300 PASS - - - - - Ins - I 177242041 177242051 1 12 266.047 - - 9 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 3 2 4 3 35 41 35 41 4 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745368241 3 179353288 TCA T 360 PASS - - - - - Del - D 179353288 179353308 2 16 322.869 - - 9 1 - - - ./. 0 0 0 0 2 9 2 9 0 0 ./. 3 3 4 3 21 43 21 43 4 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745374586 3 194354862 G GA 298 PASS TMEM44 CCDS3308.1 r.? - - Ins upstream I 194354862 194354871 1 15 319.257 - - 8 1 1 TMEM44|CCDS3308.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 TMEM44|CCDS3308.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 4 0 1 47 57 47 57 2 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745378361 4 4547969 T TC 540 PASS STX18 CCDS3377.1 r.? - - Ins upstream I 4547969 4547976 1 30 479.648 - - 6 1 1 STX18|CCDS3377.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 STX18|CCDS3377.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 4 15 5 36 24 37 24 15 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745382573 4 17213684 AGAAAGAA ATTAT 580 PASS - - - - - Complex - DI 17213685 17213691 7 117 0 - - 0 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 12 8 0 0 25 21 26 21 12 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745384141 4 22066752 C CA 780 PASS - - - - - Ins - I 22066752 22066758 1 56 692.222 - - 5 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 7 6 9 7 35 37 35 37 9 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745391899 4 44129191 T TG 900 PASS - - - - - Ins - I 44129191 44129195 1 72 798.81 - - 3 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 7 8 11 10 29 25 29 25 11 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745392905 4 47771580 C CA 600 PASS CORIN CCDS3477.1 r.? - - Ins intronic I 47771580 47771590 1 36 532.34 - - 9 1 1 CORIN|CCDS3477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CORIN|CCDS3477.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 5 5 7 7 27 38 28 39 7 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745396717 4 58927082 A AT 540 PASS - - - - - Ins - I 58927082 58927090 1 28 479.648 - - 7 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 6 8 7 32 24 32 24 8 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745398128 4 62564319 A AT 660 PASS LPHN3 ENST00000512091 r.? - - Ins intronic I 62564319 62564328 1 30 586.236 - - 8 1 1 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LPHN3|ENST00000512091|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 13 11 14 0 0 ./. 9 2 13 5 38 16 39 16 13 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745404734 4 81585050 G GT 567 PASS C4orf22 CCDS3587.1 r.? - - Ins intronic I 81585050 81585059 1 40 585.634 - - 8 1 1 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C4orf22|CCDS3587.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 16 15 16 0 0 ./. 4 7 7 11 23 26 23 26 7 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745404973 4 82549904 CAGACAACAAGTAAATGATTAATTCAGAATATATGT C 406 PASS - - - - - Del - D 82549904 82549942 35 63 754.547 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 6 8 4 6 21 23 23 25 6 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745405881 4 84707532 TTTAA T 480 PASS - - - - - Del - D 84707532 84707543 4 24 431.17 - - 2 1 1 - - ./. 0 0 0 0 8 15 8 15 0 0 ./. 5 3 11 5 26 19 26 19 11 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745408281 4 92828410 C CA 480 PASS - - - - - Ins - I 92828410 92828418 1 24 426.353 - - 7 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 3 7 7 30 25 30 26 7 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745410654 4 101362086 CA C 300 PASS EMCN CCDS3655.1 r.? - - Del intronic D 101362086 101362096 1 10 268.879 - - 9 1 1 EMCN|CCDS3655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EMCN|CCDS3655.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 1 4 1 4 29 25 29 25 1 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745412958 4 109092122 T TC 960 PASS LEF1 CCDS3679.1 r.? - - Ins upstream I 109092122 109092130 1 80 852.105 - - 7 1 1 LEF1|CCDS3679.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 LEF1|CCDS3679.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 12 8 12 8 0 0 ./. 7 9 12 14 26 36 26 36 12 14 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745420070 4 130372575 C CA 780 PASS - - - - - Ins - I 130372575 130372583 1 44 692.824 - - 7 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 10 3 12 5 35 19 35 19 12 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745420513 4 131736362 G GT 300 PASS - - - - - Ins - I 131736362 131736372 1 12 264.665 - - 9 1 1 - - ./. 0 0 0 0 17 10 17 10 0 0 ./. 3 2 3 2 31 36 31 36 3 2 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745433702 4 171068793 TTC T 300 PASS - - - - - Del - D 171068793 171068813 2 10 267.675 - - 9 1 - - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 1 4 1 4 27 26 27 26 1 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745437006 4 180523667 TC T 1080 PASS - - - - - Del - D 180523667 180523670 1 99 970.132 - - 2 1 1 - - ./. 0 0 0 0 8 16 8 16 0 0 ./. 10 8 12 12 28 25 28 25 12 12 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745437117 4 180815947 AAT A 840 PASS - - - - - Del - D 180815947 180815951 2 48 754.547 - - 1 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 11 3 15 8 36 35 36 35 15 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745450143 5 21247082 A ACG 300 PASS - - - - - Ins - I 21247082 21247084 2 12 263.901 - - 0 1 - - - ./. 0 0 0 0 8 13 10 13 0 0 ./. 3 2 5 5 22 28 22 30 5 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745456457 5 38817807 TGA T 360 PASS ENSG00000205783 ENST00000381778 r.? - - Del downstream D 38817807 38817824 2 15 322.702 - - 8 1 1 ENSG00000205783|ENST00000381778|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ENSG00000205785|ENST00000381785|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 15 15 15 0 0 ./. 2 4 2 5 32 30 32 30 2 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745456799 5 39912942 G GA 300 PASS - - - - - Ins - I 39912942 39912952 1 10 266.912 - - 9 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 1 4 1 3 36 31 37 33 1 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745463946 5 65527443 G GT 720 PASS AC092373.1 ENST00000510964 r.? - - Ins intronic I 65527443 65527451 1 48 640.588 - - 7 1 1 AC092373.1|ENST00000510964|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 AC092373.1|ENST00000510964|r.?|-|-|non_protein_coding:intron:insertion:intron_variant|SO:0000011:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 7 5 10 7 33 26 34 26 10 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745468726 5 80703808 AACTC A 658 PASS AC010623.1 ENST00000512252 r.? - - Del downstream D 80703808 80703820 4 40 647.813 - - 2 1 1 AC010623.1|ENST00000512252|r.?|-|-|non_protein_coding:deletion:500B_downstream_variant|SO:0000011:SO:0000159:SO:0001634 AC010623.1|ENST00000512252|r.?|-|-|non_protein_coding:deletion:500B_downstream_variant|SO:0000011:SO:0000159:SO:0001634 ./. 0 0 0 0 10 12 10 12 0 0 ./. 9 3 11 5 32 20 32 20 11 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745469637 5 83763567 A AT 600 PASS - - - - - Ins - I 83763567 83763576 1 27 526.599 - - 8 1 1 - - ./. 0 0 0 0 6 5 6 6 0 0 ./. 2 8 3 14 20 30 20 30 3 14 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745474299 5 99670555 C CA 498 PASS - - - - - Ins - I 99670555 99670564 1 55 747.353 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 4 10 8 12 19 32 19 32 8 12 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745480098 5 119174101 TC T 540 PASS - - - - - Del - D 119174101 119174103 1 28 485.86 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 6 3 8 7 20 27 20 27 8 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745480720 5 121432956 GTTTAC G 778 PASS - - - - - Del - D 121432956 121432964 5 63 755.782 - - 1 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 6 8 7 10 28 21 28 21 7 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745481141 5 122743967 CAAATCAATAGAACTGAAGACAGG C 348 PASS CEP120 CCDS4134.2 r.? - - Del intronic D 122743967 122744002 23 48 647.813 - - 1 1 1 CEP120|CCDS4134.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CEP120|CCDS4134.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 5 7 0 0 31 17 31 19 5 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745481222 5 123061862 CAG C 300 PASS - - - - - Del - D 123061862 123061878 2 6 268.718 - - 7 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 0 5 0 5 28 35 28 35 0 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745485191 5 135859598 G GAA 300 PASS - - - - - Ins - I 135859598 135859600 2 12 263.901 - - 1 1 - - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 2 3 6 5 23 20 23 20 6 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745492651 5 159048534 TC T 1080 PASS - - - - - Del - D 159048534 159048540 1 96 967.505 - - 5 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 11 7 14 8 29 22 29 22 14 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745493077 5 160272593 G GT 480 PASS ATP10B CCDS43394.1 r.? - - Ins intronic I 160272593 160272601 1 25 427.059 - - 7 1 1 ATP10B|CCDS43394.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ATP10B|CCDS43394.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 19 6 19 0 0 ./. 4 4 4 9 23 28 24 28 4 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745498776 5 177037456 GA G 300 PASS B4GALT7 CCDS4429.1 r.? - - Del downstream D 177037456 177037458 1 6 266.31 - - 1 1 1 B4GALT7|CCDS4429.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 B4GALT7|CCDS4429.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 9 5 9 5 0 0 ./. 5 0 6 0 26 30 26 30 6 0 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745505705 6 13610841 GAAAGGGGCACTTGAAATCACTTAA G 464 PASS SIRT5 CCDS4527.1 r.? - - Del downstream D 13610841 13610866 24 77 861.591 - - 1 1 1 SIRT5|CCDS4527.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SIRT5|CCDS4526.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 10 6 8 6 27 18 30 18 11 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745511284 6 27833162 AGCTCGCGCCAAAGCCAAGACCC A 290 PASS HIST1H2AL CCDS4634.1 r.130_151del22 c.31_52del22 p.R12fs*41 Del frameshift D 27833162 27833189 22 35 537.817 - - 1 1 1 HIST1H2AL|CCDS4634.1|r.130_151del22|c.31_52del22|p.R12fs*41|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 HIST1H2AL|CCDS4634.1|r.130_151del22|c.31_52del22|p.R12fs*41|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 6 4 6 22 16 22 16 4 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745513665 6 32442462 T TG 316 PASS - - - - - Ins - I 32442462 32442466 1 32 533.603 - - 3 1 1 - - ./. 0 0 0 0 8 12 10 12 0 0 ./. 3 7 3 12 33 40 43 40 3 12 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745526951 6 69605672 G GT 269 PASS BAI3 CCDS4968.1 r.? - - Ins intronic I 69605672 69605682 1 10 266.199 - - 9 1 1 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BAI3|CCDS4968.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 4 1 4 1 24 29 25 29 4 1 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745526975 6 69685188 TTTGCAAGATGCATATCAAATGAGTACAGACACTTGCAGCATTCAGTAGGTGCAAAGCCAGCTTTAGTACTTGCTCTGTTTATTTTTTGCTAATGATCACTGTGTGAGAATTTAACCTTCTGCTGTACAATCAAATCAGTAACATCTCTAAAAAAGAAATGCCTGAAGGAGAAAGCAATGTGATAGAAAGCTAATTTTTATAGGTCAGTGCTAAATTGTTTTGTTCCTAGGACTTGGGTTTTTATGGATCCTGCTATTTAAATGAAAGAACCCTTTGTC T 348 PASS BAI3 CCDS4968.1 r.2512_2555+234del278 c.1691_1734+234del278 p.? Del ess splice D 69685188 69685468 278 40 646.946 - - 1 1 1 BAI3|CCDS4968.1|r.2512_2555+234del278|c.1691_1734+234del278|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 BAI3|CCDS4968.1|r.2512_2555+234del278|c.1691_1734+234del278|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:deletion:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:0000159:SO:0001577:SO:0001576 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 9 0 0 15 22 18 31 3 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745531329 6 83491644 CAA C 900 PASS - - - - - Del - D 83491644 83491650 2 72 805.22 - - 5 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 8 7 8 8 29 24 29 24 8 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745531758 6 84992879 GA G 629 PASS - - - - - Del - D 84992879 84992885 1 36 585.157 - - 5 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 8 3 12 4 40 20 40 20 12 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745531782 6 85114368 AT A 540 PASS - - - - - Del - D 85114368 85114373 1 30 485.661 - - 4 1 - - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 5 4 12 7 29 22 29 22 12 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745532466 6 87231918 A AT 720 PASS - - - - - Ins - I 87231918 87231927 1 48 636.109 - - 8 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 7 5 8 8 22 27 22 28 8 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745532817 6 88284662 GAAGA G 480 PASS RARS2 CCDS5011.1 r.? - - Del intronic D 88284662 88284671 4 21 431.699 - - 2 1 1 RARS2|CCDS5011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RARS2|CCDS5011.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 2 6 3 6 14 31 14 31 3 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745534300 6 92869670 TA T 420 PASS - - - - - Del - D 92869670 92869679 1 14 375.93 - - 8 1 1 - - ./. 0 0 0 0 8 5 8 5 0 0 ./. 1 6 3 7 10 20 10 20 3 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745540345 6 110889870 A AT 960 PASS - - - - - Ins - I 110889870 110889877 1 81 853.162 - - 6 1 1 - - ./. 0 0 0 0 15 11 15 11 0 0 ./. 8 8 11 11 33 31 33 31 11 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745541948 6 115708181 C CTA 360 PASS - - - - - Ins - I 115708181 115708187 2 12 316.549 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 1 5 3 5 24 26 25 26 3 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745547251 6 133281165 CT C 300 PASS - - - - - Del - D 133281165 133281175 1 10 269.21 - - 9 1 1 - - ./. 0 0 0 0 4 9 4 9 0 0 ./. 1 4 1 4 31 29 31 29 1 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745547407 6 134027200 G GA 480 PASS - - - - - Ins - I 134027200 134027209 1 21 425.678 - - 8 1 1 - - ./. 0 0 0 0 12 12 12 13 0 0 ./. 2 6 3 9 27 28 27 28 3 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745549505 6 140246689 CA C 1349 PASS - - - - - Del - D 140246689 140246691 1 150 1239.33 - - 1 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 9 14 14 18 28 34 28 34 14 18 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745552123 6 149925954 ATTTAT A 1078 PASS KATNA1 CCDS5217.1 r.? - - Del intronic D 149925954 149925963 5 110 1023.48 - - 1 1 1 KATNA1|CCDS5217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KATNA1|CCDS5217.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 10 9 9 10 29 34 30 35 10 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745553062 6 152249236 GTTTC G 1018 PASS ESR1 CCDS5234.1 r.? - - Del intronic D 152249236 152249244 4 99 971.322 - - 1 1 1 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 14 14 14 0 0 ./. 10 8 13 10 37 33 37 33 13 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745553106 6 152389593 C CA 389 PASS ESR1 CCDS5234.1 r.? - - Ins intronic I 152389593 152389594 1 8 372.318 - - 0 1 1 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ESR1|CCDS5234.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 17 14 17 0 0 ./. 0 7 4 11 18 25 18 25 4 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745553467 6 153169866 AGAAG A 300 PASS - - - - - Del - D 153169866 153169876 4 12 269.812 - - 2 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 3 2 2 3 23 27 23 27 3 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745559064 6 169135271 C CT 627 PASS - - - - - Ins - I 169135271 169135278 1 49 638.517 - - 6 1 1 - - ./. 0 0 0 0 17 14 18 14 0 0 ./. 6 6 6 8 26 40 26 40 6 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745560595 7 2354153 GC G 360 PASS SNX8 CCDS5331.1 r.? - - Del upstream D 2354153 2354159 1 16 323.28 - - 5 1 - SNX8|CCDS5331.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SNX8|ENST00000435336|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 3 4 9 22 38 22 38 4 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745561773 7 4847617 CCTGT C 358 PASS RADIL CCDS43544.1 r.? - - Del intronic D 4847617 4847624 4 18 375.354 - - 1 1 1 RADIL|CCDS43544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RADIL|CCDS43544.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 1 10 1 0 0 ./. 5 2 11 4 23 11 23 11 11 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745563177 7 6934778 A AAGAGAGAGAGGG 273 PASS - - - - - Ins - I 6934778 6934797 12 20 466.553 - - 1 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 9 1 9 1 52 27 54 28 10 1 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745564912 7 11278542 AT A 1318 PASS - - - - - Del - D 11278542 11278552 1 136 1235.63 - - 9 1 1 - - ./. 0 0 0 0 5 8 5 8 0 0 ./. 16 7 22 15 36 30 36 30 22 15 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745565356 7 12528554 G GGT 478 PASS - - - - - Ins - I 12528554 12528555 2 18 469.869 - - 0 1 1 - - ./. 0 0 0 0 14 7 14 7 0 0 ./. 1 8 0 0 31 32 34 33 1 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745565640 7 13306068 CAG C 420 PASS - - - - - Del - D 13306068 13306083 2 20 377.16 - - 7 1 - - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 4 3 4 50 46 50 46 3 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745583078 7 56391391 TC T 537 PASS - - - - - Del - D 56391391 56391393 1 30 482.512 - - 1 1 - - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 4 5 6 6 39 24 39 24 6 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745585767 7 63875036 GACAA G 809 PASS - - - - - Del - D 63875036 63875060 4 64 753.116 - - 5 1 - - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 7 7 18 10 38 41 38 41 18 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745591270 7 73170137 C CA 600 PASS - - - - - Ins - I 73170137 73170145 1 32 532.779 - - 7 1 - - - ./. 0 0 0 0 21 9 21 9 0 0 ./. 7 3 10 8 56 39 56 39 10 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745596775 7 86983936 G GA 300 PASS CROT CCDS5604.1 r.? - - Ins intronic I 86983936 86983946 1 12 266.39 - - 9 1 1 CROT|CCDS5604.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CROT|CCDS5604.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 3 2 3 2 39 36 40 38 3 2 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745598742 7 92689171 G GT 1860 PASS - - - - - Ins - I 92689171 92689179 1 260 1651.62 - - 7 1 1 - - ./. 0 0 0 0 7 8 7 8 0 0 ./. 19 12 25 16 49 40 51 40 25 16 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745601877 7 100189883 G GA 300 PASS FBXO24 CCDS5698.1 r.? - - Ins intronic I 100189883 100189893 1 12 266.39 - - 9 1 1 FBXO24|CCDS5698.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FBXO24|CCDS5698.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 3 2 4 2 37 40 37 40 4 2 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745604463 7 105116805 T TTA 900 PASS PUS7 CCDS34725.1 r.? - - Ins intronic I 105116805 105116819 2 66 788.332 - - 6 1 1 PUS7|CCDS34725.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PUS7|CCDS34725.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 3 13 3 0 0 ./. 10 5 13 9 47 36 48 36 13 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745606774 7 111361935 A AT 300 PASS DOCK4 ENST00000348568 r.? - - Ins downstream I 111361935 111361945 1 12 260.369 - - 9 1 1 DOCK4|ENST00000348568|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 DOCK4|ENST00000348568|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 8 7 8 7 0 0 ./. 3 2 2 4 31 47 32 47 3 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745607499 7 113604350 T TA 300 PASS PPP1R3A ENST00000449795 r.? - - Ins intronic I 113604350 113604360 1 12 266.39 - - 9 1 1 PPP1R3A|ENST00000449795|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PPP1R3A|ENST00000449795|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 2 3 4 4 35 47 35 47 4 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745608062 7 115085811 GT G 1020 PASS - - - - - Del - D 115085811 115085819 1 84 915.358 - - 7 1 1 - - ./. 0 0 0 0 3 9 3 9 0 0 ./. 6 11 8 14 28 33 28 33 8 14 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745609882 7 120888651 A AC 269 PASS C7orf58 CCDS34739.1 r.? - - Ins intronic I 120888651 120888652 1 6 259.767 - - 0 1 1 C7orf58|CCDS34739.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C7orf58|CCDS34739.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 0 5 0 42 32 43 32 6 0 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745610211 7 121769131 C CA 300 PASS AASS CCDS5783.1 r.? - - Ins intronic I 121769131 121769141 1 10 265.788 - - 9 1 1 AASS|CCDS5783.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AASS|CCDS5783.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 1 4 2 5 19 55 19 56 2 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745612661 7 128169202 AT A 300 PASS - - - - - Del - D 128169202 128169204 1 10 266.992 - - 1 1 - - - ./. 0 0 0 0 3 11 3 11 0 0 ./. 1 4 8 10 33 44 33 44 8 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745632177 8 14752474 C CA 600 PASS SGCZ CCDS5992.2 r.? - - Ins intronic I 14752474 14752482 1 32 532.825 - - 7 1 1 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 7 6 8 25 26 26 26 6 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745632504 8 15648778 G GC 389 PASS - - - - - Ins - I 15648778 15648787 1 20 373.64 - - 8 1 1 - - ./. 0 0 0 0 11 10 11 10 0 0 ./. 4 3 6 5 27 30 28 30 6 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745634799 8 22047600 A AT 360 PASS BMP1 CCDS6026.1 r.? - - Ins intronic I 22047600 22047610 1 15 317.769 - - 9 1 1 BMP1|CCDS6026.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BMP1|CCDS6026.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 4 2 4 2 28 26 28 26 4 2 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745638282 8 31184107 A AT 720 PASS - - - - - Ins - I 31184107 31184114 1 40 639.752 - - 6 1 1 - - ./. 0 0 0 0 1 14 1 14 0 0 ./. 3 9 3 9 6 24 6 25 3 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745638359 8 31464239 AG A 300 PASS - - - - - Del - D 31464239 31464242 1 10 269.724 - - 2 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 4 1 4 3 23 33 23 33 4 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745638430 8 31672253 G GT 480 PASS NRG1 CCDS47836.1 r.? - - Ins intronic I 31672253 31672255 1 16 427.103 - - 1 1 1 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 2 8 2 0 0 ./. 7 1 8 3 16 3 17 3 8 3 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745643565 8 51540947 A AT 840 PASS SNTG1 CCDS6147.1 r.? - - Ins intronic I 51540947 51540955 1 63 748.484 - - 7 1 1 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 9 14 9 0 0 ./. 8 6 13 8 26 23 26 23 13 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745644588 8 54710818 GCT G 718 PASS ATP6V1H CCDS6153.1 r.? - - Del intronic D 54710818 54710822 2 50 701.644 - - 1 1 1 ATP6V1H|CCDS6153.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP6V1H|CCDS6153.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 10 19 10 0 0 ./. 4 9 4 9 19 25 19 25 4 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745648385 8 68056214 GTTAAGAA G 493 PASS CSPP1 CCDS47870.1 r.? - - Del intronic D 68056214 68056224 7 88 918.506 - - 1 1 1 CSPP1|CCDS47870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSPP1|CCDS47870.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 10 7 10 8 28 28 28 29 10 9 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745648654 8 69004084 ATAAT A 718 PASS PREX2 CCDS6201.1 r.? - - Del intronic D 69004084 69004092 4 44 696.827 - - 1 1 1 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PREX2|CCDS6201.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 10 5 11 20 27 20 27 5 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745650902 8 75752578 CTA C 840 PASS PI15 CCDS6218.1 r.? - - Del intronic D 75752578 75752584 2 60 756.311 - - 2 1 1 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 5 9 7 14 23 29 23 29 7 14 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745663475 8 116685546 TGACATTGAA T 377 PASS TRPS1 CCDS6318.2 r.? - - Del upstream D 116685546 116685558 9 54 697.429 - - 1 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 TRPS1|ENST00000422939|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 13 5 13 0 0 ./. 8 5 0 0 23 23 25 23 8 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745665192 8 122358650 T TA 360 PASS - - - - - Ins - I 122358650 122358659 1 16 320.779 - - 8 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 3 4 7 31 26 32 26 4 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745671840 8 142982685 G GGT 360 PASS - - - - - Ins - I 142982685 142982697 2 7 317.167 - - 5 1 - - - ./. 0 0 0 0 16 12 18 12 0 0 ./. 6 0 0 1 46 44 62 45 6 1 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745676653 9 11226373 A AT 540 PASS - - - - - Ins - I 11226373 11226382 1 18 481.667 - - 8 1 1 - - ./. 0 0 0 0 10 1 10 1 0 0 ./. 8 1 10 2 25 9 25 9 10 2 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745679148 9 18887485 G GA 600 PASS ADAMTSL1 CCDS47954.1 r.? - - Ins intronic I 18887485 18887493 1 36 534.583 - - 7 1 1 ADAMTSL1|CCDS47954.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADAMTSL1|CCDS47954.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 14 15 14 0 0 ./. 5 5 7 8 28 34 29 35 7 8 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745681214 9 25620499 CA C 1529 PASS - - - - - Del - D 25620499 25620503 1 195 1404.73 - - 3 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 14 12 16 14 32 32 32 32 16 14 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745690746 9 72555547 T TA 600 PASS - - - - - Ins - I 72555547 72555553 1 35 535.185 - - 5 1 1 - - ./. 0 0 0 0 11 16 12 16 0 0 ./. 4 6 6 7 10 27 10 27 6 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745697444 9 91378436 AAG A 360 PASS - - - - - Del - D 91378436 91378456 2 16 321.713 - - 9 1 - - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 3 2 4 29 28 29 28 3 4 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745702816 9 108749588 AATTTAT A 348 PASS - - - - - Del - D 108749588 108749597 6 45 649.447 - - 1 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 8 8 10 30 21 30 21 8 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745708224 9 124610569 C CA 809 PASS TTLL11 CCDS48012.1 r.? - - Ins intronic I 124610569 124610577 1 60 749.26 - - 7 1 1 TTLL11|CCDS48012.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTLL11|CCDS48012.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 11 0 0 ./. 9 5 15 7 43 28 43 29 15 7 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745712235 9 134657209 G GT 360 PASS - - - - - Ins - I 134657209 134657215 1 7 318.703 - - 5 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 6 0 14 5 35 26 35 26 14 5 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745717577 X 23941775 CT C 360 PASS CXorf58 CCDS14209.1 r.? - - Del intronic D 23941775 23941777 1 16 317.681 - - 1 1 1 CXorf58|CCDS14209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CXorf58|CCDS14209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 3 3 7 12 16 17 16 17 7 12 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745721318 X 51270553 C CA 1260 PASS - - - - - Ins - I 51270553 51270559 1 126 1130.25 - - 5 1 1 - - ./. 0 0 0 0 7 4 7 4 0 0 ./. 13 8 14 12 20 16 20 16 14 12 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745722012 X 56791005 GCATCCTGTTGTGTTCAGA G 551 PASS - - - - - Del - D 56791005 56791024 18 104 1032.78 - - 1 1 1 - - ./. 0 0 0 0 7 5 7 5 0 0 ./. 7 12 6 10 8 15 9 17 7 12 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745724379 X 79143596 C CA 900 PASS - - - - - Ins - I 79143596 79143605 1 72 802.933 - - 8 1 1 - - ./. 0 0 0 0 8 3 9 3 0 0 ./. 8 7 8 10 15 13 16 13 8 10 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745725056 X 84619175 AT A 600 PASS POF1B CCDS14452.1 r.? - - Del intronic D 84619175 84619182 1 35 544.521 - - 6 1 1 POF1B|CCDS14452.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POF1B|CCDS14452.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 9 2 9 0 0 ./. 6 4 9 6 13 13 13 13 9 6 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745729321 X 116251301 A AT 780 PASS - - - - - Ins - I 116251301 116251309 1 44 697.642 - - 7 1 1 - - ./. 0 0 0 0 7 6 7 6 0 0 ./. 3 10 7 11 16 14 16 14 7 11 1 1 1 1 1 1 1 1 2731453 PD20347a PD20347b 2745735062 Y 7084233 T TCA 300 PASS - - - - - Ins - I 7084233 7084252 2 12 267.899 - - 9 1 - - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 2 6 3 20 12 20 12 6 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746683497 1 1050524 C CT 629 PASS C1orf159 CCDS7.2 r.? - - Ins intronic I 1050524 1050526 1 42 583.079 - - 1 1 1 C1orf159|CCDS7.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C1orf159|CCDS7.2|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 6 5 7 6 28 47 29 47 7 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746690174 1 17040954 TG T 269 PASS - - - - - Del - D 17040954 17040956 1 10 264.379 - - 1 1 1 - - ./. 0 0 0 0 23 19 23 19 0 0 ./. 4 1 5 2 60 59 60 59 5 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746694565 1 27076825 AGTT A 600 PASS ARID1A CCDS285.1 r.? - - Del intronic D 27076825 27076834 3 35 536.585 - - 2 1 1 ARID1A|CCDS285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARID1A|CCDS285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 4 8 8 31 35 31 35 8 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746711373 1 74161664 G GA 360 PASS - - - - - Ins - I 74161664 74161671 1 7 318.7 - - 6 1 1 - - ./. 0 0 0 0 5 17 5 17 0 0 ./. 0 6 1 6 12 32 12 32 1 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746715333 1 85678857 T TTA 360 PASS - - - - - Ins - I 85678857 85678859 2 7 311.475 - - 0 1 - - - ./. 0 0 0 0 1 10 1 10 0 0 ./. 6 0 2 0 16 25 16 25 7 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746721947 1 104937248 A AT 946 PASS - - - - - Ins - I 104937248 104937257 1 84 955.498 - - 8 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 13 7 16 34 44 34 44 7 16 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746726509 1 118212565 TACAGATG T 493 PASS - - - - - Del - D 118212565 118212575 7 78 913.218 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 12 5 13 7 30 23 31 23 14 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746732100 1 148854454 CGGCGGTGGGGCAAAAAGCAGCGGCGGT C 252 PASS - - - - - Del - D 148854454 148854487 27 45 635.594 - - 1 1 1 - - ./. 0 0 0 0 16 26 16 26 0 0 ./. 4 8 1 2 42 129 44 130 4 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746735024 1 154447667 C CT 1680 PASS SHE CCDS30877.1 r.? - - Ins downstream I 154447667 154447674 1 221 1472.21 - - 6 1 1 SHE|CCDS30877.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SHE|CCDS30877.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 9 9 10 9 0 0 ./. 12 16 17 18 56 45 56 45 17 18 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746741622 1 170277736 C CA 480 PASS - - - - - Ins - I 170277736 170277742 1 9 412.892 - - 5 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 0 8 1 0 36 50 36 50 1 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746743582 1 175336584 CAATTTCACTATTTAGG C 406 PASS TNR CCDS1318.1 r.? - - Del intronic D 175336584 175336604 16 63 752.062 - - 1 1 1 TNR|CCDS1318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNR|CCDS1318.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 8 6 7 45 40 45 41 6 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746747540 1 185031975 GA G 1200 PASS RNF2 CCDS1365.1 r.? - - Del intronic D 185031975 185031980 1 120 1054.51 - - 4 1 1 RNF2|CCDS1365.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RNF2|CCDS1365.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 9 11 13 13 39 40 39 40 14 13 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746748983 1 188715919 C CT 360 PASS - - - - - Ins - I 188715919 188715924 1 16 318.7 - - 4 1 1 - - ./. 0 0 0 0 7 12 10 13 0 0 ./. 3 3 3 5 33 49 45 50 3 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746749634 1 190221904 TTTA T 288 PASS FAM5C CCDS1373.1 r.? - - Del intronic D 190221904 190221930 3 12 267.389 - - 8 1 - FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM5C|CCDS1373.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 3 2 4 2 35 38 35 38 4 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746751557 1 195755798 TGAA T 449 PASS - - - - - Del - D 195755798 195755807 3 24 429.75 - - 2 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 5 4 5 29 30 29 30 4 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746755649 1 204749927 TTC T 300 PASS - - - - - Del - D 204749927 204749945 2 12 267.389 - - 8 1 - - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 3 2 3 45 36 45 36 2 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746756956 1 208358093 TAC T 300 PASS PLXNA2 CCDS31013.1 r.? - - Del intronic D 208358093 208358112 2 12 268.594 - - 9 1 1 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXNA2|CCDS31013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 2 5 2 49 41 49 41 5 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746759223 1 213348159 G GT 569 PASS RPS6KC1 CCDS1513.1 r.? - - Ins intronic I 213348159 213348168 1 35 531.167 - - 8 1 1 RPS6KC1|CCDS1513.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RPS6KC1|CCDS1513.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 6 4 8 5 50 41 50 41 8 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746759609 1 214431454 TAGACCTGCGA T 841 PASS - - - - - Del - D 214431454 214431468 10 240 1551.82 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 15 14 0 0 48 29 50 30 15 14 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746759624 1 214461507 C CA 480 PASS SMYD2 CCDS31022.1 r.? - - Ins intronic I 214461507 214461516 1 25 423.729 - - 8 1 1 SMYD2|CCDS31022.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMYD2|CCDS31022.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 12 11 12 0 0 ./. 4 4 4 6 43 45 43 46 4 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746763427 1 223826079 GTA G 300 PASS CAPN8 ENST00000366873 r.? - - Del intronic D 223826079 223826083 2 6 267.992 - - 1 1 - CAPN8|ENST00000366873|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CAPN8|ENST00000366873|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 0 5 1 6 22 51 22 51 1 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746763962 1 224606253 ATGCGATACGTGAGC A 580 PASS WDR26 CCDS31037.1 r.? - - Del intronic D 224606253 224606269 14 121 1074.37 - - 1 1 1 WDR26|CCDS31037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 WDR26|CCDS31037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 13 4 13 0 0 ./. 10 10 10 8 45 36 45 38 10 10 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746765564 1 227690070 CA C 322 PASS - - - - - Del - D 227690070 227690072 1 15 752.062 - - 1 1 1 - - ./. 0 0 0 0 2 11 2 11 0 0 ./. 14 0 18 0 36 34 36 34 18 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746765878 1 228790110 TC T 840 PASS - - - - - Del - D 228790110 228790114 1 48 749.654 - - 3 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 11 3 12 5 53 44 53 44 12 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746770939 1 239856659 ATC A 329 PASS CHRM3 CCDS1616.1 r.? - - Del intronic D 239856659 239856677 2 15 307.863 - - 8 1 1 CHRM3|CCDS1616.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHRM3|CCDS1616.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 2 5 3 50 34 50 34 5 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746771050 1 240138589 A AGAAC 420 PASS - - - - - Ins - I 240138589 240138591 4 14 358.571 - - 0 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 6 1 0 0 32 25 40 29 6 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746774060 1 245991785 AT A 360 PASS SMYD3 CCDS31083.1 r.? - - Del intronic D 245991785 245991795 1 15 321.108 - - 9 1 1 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMYD3|CCDS31083.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 2 4 2 4 52 51 52 51 2 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746776841 10 2949413 T TCT 356 PASS - - - - - Ins - I 2949409 2949415 2 10 470.553 - - 2 1 - - - ./. 0 0 0 0 8 11 8 13 0 0 ./. 0 9 1 0 49 80 49 91 1 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746778411 10 6270147 TCTC T 509 PASS PFKFB3 CCDS7078.1 r.? - - Del intronic D 6270147 6270155 3 30 480.788 - - 2 1 1 PFKFB3|CCDS7078.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PFKFB3|ENST00000379785|r.1911-11_1911-9delcuc|c.1516-11_1516-9delctc|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:deletion:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:0000159:SO:CGPX04:SO:0001627:SO:0001576 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 5 4 5 30 33 30 33 4 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746786292 10 23328892 G GA 300 PASS ARMC3 CCDS7142.1 r.? - - Ins downstream I 23328892 23328902 1 12 265.833 - - 9 1 1 ARMC3|CCDS7142.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ARMC3|CCDS7142.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 3 2 3 52 36 54 36 2 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746790508 10 32435823 A AT 269 PASS - - - - - Ins - I 32435823 32435833 1 12 266.436 - - 9 1 1 - - ./. 0 0 0 0 11 17 11 18 0 0 ./. 2 3 2 3 49 38 51 38 2 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746793107 10 38420118 C CA 1140 PASS - - - - - Ins - I 38420118 38420125 1 110 1007.64 - - 6 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 9 10 11 14 39 38 39 38 11 14 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746796335 10 45546626 A AA 538 PASS - - - - - Ins - I 45546624 45546627 1 27 529.861 - - 2 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 2 8 1 1 21 44 22 46 3 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746808676 10 77326869 TTC T 420 PASS C10orf11 ENST00000354343 r.? - - Del intronic D 77326869 77326887 2 18 372.408 - - 8 1 1 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C10orf11|ENST00000354343|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 19 15 19 0 0 ./. 2 5 4 5 43 40 43 40 4 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746810506 10 82469721 C CT 300 PASS - - - - - Ins - I 82469721 82469730 1 12 266.436 - - 8 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 3 2 3 2 31 28 33 28 3 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746815951 10 97206917 C CA 300 PASS SORBS1 CCDS31255.1 r.? - - Ins intronic I 97206917 97206927 1 10 254.996 - - 9 1 - SORBS1|CCDS31255.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SORBS1|CCDS31255.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 11 9 11 0 0 ./. 4 1 4 1 48 45 48 45 4 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746816126 10 97596430 AAT A 660 PASS ENTPD1 CCDS7444.1 r.? - - Del intronic D 97596430 97596433 2 36 584.954 - - 1 1 1 ENTPD1|CCDS7444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENTPD1|CCDS7444.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 8 3 12 3 35 22 35 22 12 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746822404 10 112785049 G GT 480 PASS - - - - - Ins - I 112785049 112785051 1 24 425.695 - - 1 1 1 - - ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 5 5 6 31 41 31 42 5 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746823756 10 116562584 G GT 300 PASS - - - - - Ins - I 116562584 116562594 1 12 266.436 - - 9 1 - - - ./. 0 0 0 0 17 13 17 13 0 0 ./. 2 3 2 3 41 57 42 58 2 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746830969 10 134241322 A AATCACCATCATCATAACACAATCACCATT 261 PASS ENSG00000197735 ENST00000354756 r.? - - Ins intronic I 134241322 134241333 29 28 327.865 - - 0 1 - ENSG00000197735|ENST00000354756|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENSG00000197735|ENST00000354756|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 11 11 0 0 ./. 3 6 0 0 50 49 52 51 3 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746835443 11 9763834 A AT 869 PASS SWAP70 CCDS31426.1 r.? - - Ins intronic I 9763834 9763844 1 60 798.586 - - 9 1 1 SWAP70|CCDS31426.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SWAP70|CCDS31426.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 4 6 4 0 0 ./. 11 4 15 5 38 17 40 18 15 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746836585 11 12626971 CA C 900 PASS - - - - - Del - D 12626971 12626973 1 60 810.026 - - 1 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 11 4 15 7 39 22 39 22 15 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746849467 11 47874597 CTG C 420 PASS NUP160 CCDS31484.1 r.? - - Del upstream D 47874597 47874601 2 14 376.808 - - 1 1 1 NUP160|CCDS31484.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 NUP160|CCDS31484.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 17 6 17 6 0 0 ./. 6 1 6 1 58 13 58 13 6 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746854697 11 65517707 TTG T 300 PASS - - - - - Del - D 65517707 65517723 2 10 270.008 - - 7 1 1 - - ./. 0 0 0 0 14 5 14 5 0 0 ./. 1 4 1 4 42 44 42 44 1 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746861129 11 81380481 G GA 420 PASS - - - - - Ins - I 81380481 81380488 1 18 373.797 - - 6 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 2 6 2 24 32 25 32 6 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746862154 11 84013999 GAC G 300 PASS DLG2 CCDS41696.1 r.? - - Del intronic D 84013999 84014016 2 10 270.008 - - 8 1 - DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG2|CCDS41696.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 4 21 4 0 0 ./. 4 1 4 1 27 35 27 35 4 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746863373 11 87211126 T TT 297 PASS - - - - - Ins - I 87211125 87211127 1 10 266.998 - - 1 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 4 1 1 1 42 40 42 40 5 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746864944 11 91467352 A AG 420 PASS - - - - - Ins - I 91467352 91467353 1 20 373.797 - - 0 1 1 - - ./. 0 0 0 0 12 11 12 11 0 0 ./. 4 3 4 3 36 30 36 31 4 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746866228 11 95379157 TTC T 300 PASS - - - - - Del - D 95379157 95379177 2 12 270.008 - - 9 1 - - - ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 3 2 28 33 28 33 3 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746870522 11 106337885 T TGG 360 PASS - - - - - Ins - I 106337885 106337892 2 7 313.775 - - 6 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 6 0 9 0 30 19 30 20 9 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746872668 11 112096660 GGGCT G 348 PASS PTS CCDS8359.1 r.? - - Del upstream D 112096660 112096666 4 49 639.592 - - 1 1 1 PTS|CCDS8359.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PTS|CCDS8359.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 6 8 8 41 28 41 28 8 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746874819 11 117760068 T TC 300 PASS - - - - - Ins - I 117760068 117760069 1 12 263.386 - - 0 1 1 - - ./. 0 0 0 0 12 7 13 7 0 0 ./. 3 2 4 2 29 32 30 32 4 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746874862 11 117911366 AC A 300 PASS - - - - - Del - D 117911366 117911368 1 10 269.406 - - 1 1 1 - - ./. 0 0 0 0 5 7 5 7 0 0 ./. 1 4 1 5 18 32 18 32 1 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746892371 12 26365680 AG A 1020 PASS SSPN CCDS8707.1 r.? - - Del intronic D 26365680 26365682 1 88 914.449 - - 1 1 1 SSPN|CCDS8707.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SSPN|CCDS8707.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 7 10 9 15 25 36 25 36 9 15 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746892530 12 26774968 TTAAC T 447 PASS ITPR2 CCDS41764.1 r.? - - Del intronic D 26774968 26774976 4 28 486.351 - - 1 1 1 ITPR2|CCDS41764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITPR2|CCDS41764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 6 3 7 4 33 31 33 31 7 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746896550 12 39124051 G GA 480 PASS CPNE8 CCDS8733.1 r.? - - Ins intronic I 39124051 39124059 1 24 427.496 - - 7 1 1 CPNE8|CCDS8733.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CPNE8|CCDS8733.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 5 3 7 15 32 16 32 3 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746907052 12 68384261 GT G 480 PASS - - - - - Del - D 68384261 68384266 1 21 432.312 - - 4 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 2 6 2 6 23 39 23 39 2 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746913455 12 88504485 C CA 540 PASS CEP290 ENST00000309041 r.? - - Ins intronic I 88504485 88504495 1 24 479.729 - - 9 1 1 CEP290|ENST00000309041|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CEP290|ENST00000309041|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 7 5 8 29 44 29 45 5 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746933675 13 22789194 CAA C 269 PASS AL137248.1 ENST00000413646 r.? - - Del intronic D 22789194 22789204 2 12 266.913 - - 9 1 - AL137248.1|ENST00000413646|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL137248.1|ENST00000413646|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 2 1 0 49 43 49 43 4 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746936413 13 28428729 AT A 480 PASS AL390738.2 ENST00000499662 r.? - - Del intronic D 28428729 28428735 1 24 430.432 - - 5 1 1 AL390738.2|ENST00000499662|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AL390738.2|ENST00000499662|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 3 8 6 28 28 28 28 8 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746938505 13 33253234 TA T 300 PASS PDS5B CCDS41878.1 r.? - - Del intronic D 33253234 33253239 1 12 260.29 - - 4 1 1 PDS5B|CCDS41878.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDS5B|CCDS41878.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 5 8 5 0 0 ./. 2 3 5 4 35 28 35 28 5 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746945957 13 51747515 AAAC A 369 PASS - - - - - Del - D 51747515 51747525 3 14 703.366 - - 3 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 13 0 13 0 44 18 45 18 14 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746947993 13 57685385 AAG A 300 PASS - - - - - Del - D 57685385 57685405 2 10 270.525 - - 9 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 1 5 1 46 45 46 45 5 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746951836 13 67669192 G GT 300 PASS PCDH9 CCDS9443.1 r.? - - Ins intronic I 67669192 67669202 1 10 267.515 - - 9 1 1 PCDH9|CCDS9443.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PCDH9|CCDS9443.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 13 16 13 0 0 ./. 1 4 1 4 28 53 28 54 1 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746952103 13 68374508 TC T 569 PASS - - - - - Del - D 68374508 68374514 1 32 541.051 - - 5 1 1 - - ./. 0 0 0 0 15 6 15 6 0 0 ./. 3 7 4 7 28 29 28 29 4 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746954379 13 73943422 T TA 300 PASS - - - - - Ins - I 73943422 73943431 1 12 266.913 - - 8 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 3 2 5 2 41 26 41 27 5 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746955930 13 77832498 CTTT C 569 PASS MYCBP2 CCDS31994.1 r.? - - Del intronic D 77832498 77832502 3 35 539.245 - - 3 1 1 MYCBP2|CCDS31994.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYCBP2|CCDS31994.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 10 7 10 0 0 ./. 4 6 7 6 32 34 32 34 7 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746958478 13 84960637 CAT C 300 PASS - - - - - Del - D 84960637 84960641 2 10 270.525 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 4 1 5 4 48 27 48 27 5 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746959602 13 87994756 TTTTATTTG T 464 PASS - - - - - Del - D 87994756 87994776 8 81 865.079 - - 2 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 8 8 9 11 30 35 30 35 9 11 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746960260 13 89810176 GAT G 780 PASS - - - - - Del - D 89810176 89810186 2 56 703.366 - - 4 1 1 - - ./. 0 0 0 0 8 13 8 13 0 0 ./. 6 7 10 9 38 42 38 42 10 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746960445 13 90207814 GA G 840 PASS - - - - - Del - D 90207814 90207821 1 64 757.471 - - 6 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 7 7 7 12 26 31 26 31 7 12 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746961394 13 92670276 TAC T 300 PASS GPC5 CCDS9468.1 r.? - - Del intronic D 92670276 92670290 2 12 270.525 - - 6 1 - GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPC5|CCDS9468.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 3 44 35 44 35 2 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746968894 13 111426408 TCAAAC T 354 PASS - - - - - Del - D 111426408 111426414 5 28 483.333 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 6 7 5 26 25 26 26 7 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746977563 14 37620224 TTC T 300 PASS SLC25A21 CCDS9663.1 r.? - - Del intronic D 37620224 37620244 2 10 270.13 - - 9 1 - SLC25A21|CCDS9663.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC25A21|CCDS9663.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 1 3 1 48 28 48 28 4 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746978585 14 40113414 G GGA 747 PASS - - - - - Ins - I 40113414 40113415 2 39 735.772 - - 0 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 12 0 1 30 36 30 37 2 13 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746984197 14 53935016 TG T 300 PASS - - - - - Del - D 53935016 53935018 1 10 267.721 - - 1 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 1 4 1 4 50 42 50 42 1 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746984546 14 54957953 A AT 480 PASS GMFB CCDS9718.1 r.? - - Ins upstream I 54957953 54957960 1 25 428.354 - - 6 1 1 GMFB|CCDS9718.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 GMFB|CCDS9718.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 4 8 5 57 27 59 29 8 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746986529 14 59594511 ATCTAACCCTTAGGTC A 261 PASS - - - - - Del - D 59594511 59594531 15 30 487.317 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 5 4 3 5 31 39 33 39 5 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746987819 14 63016821 GAAC G 269 PASS - - - - - Del - D 63016821 63016845 3 10 270.13 - - 7 1 - - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 1 4 1 5 36 40 36 40 1 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746988217 14 64020414 G GT 360 PASS - - - - - Ins - I 64020414 64020422 1 16 321.266 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 3 3 5 7 45 43 46 43 5 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746988692 14 64842127 G GA 300 PASS - - - - - Ins - I 64842127 64842137 1 10 267.119 - - 9 1 1 - - ./. 0 0 0 0 10 7 10 7 0 0 ./. 1 4 2 4 44 38 44 38 2 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746995138 14 79167139 C CT 300 PASS NRXN3 CCDS9870.1 r.? - - Ins intronic I 79167139 79167149 1 6 265.313 - - 9 1 - NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NRXN3|CCDS9870.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 5 0 7 2 48 23 48 23 7 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746997740 14 86437921 CT C 360 PASS - - - - - Del - D 86437921 86437927 1 15 324.878 - - 5 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 2 5 6 31 43 31 43 5 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2746998889 14 89724410 TAC T 300 PASS FOXN3 CCDS32138.1 r.? - - Del intronic D 89724410 89724427 2 12 270.732 - - 8 1 1 FOXN3|CCDS32138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FOXN3|CCDS32138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 4 8 4 0 0 ./. 3 2 3 3 58 32 58 32 3 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747001434 14 95050847 CGG C 600 PASS SERPINA5 CCDS9928.1 r.? - - Del intronic D 95050847 95050850 2 27 538.453 - - 2 1 1 SERPINA5|CCDS9928.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SERPINA5|CCDS9928.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 14 2 14 0 0 ./. 8 2 10 4 35 35 35 35 10 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747002509 14 97593857 GAGGA G 360 PASS - - - - - Del - D 97593857 97593880 4 12 322.47 - - 5 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 1 5 9 11 33 27 33 27 9 11 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747004590 14 102785377 TAAG T 569 PASS ZNF839 CCDS45164.1 r.? - - Del upstream D 102785377 102785384 3 35 540.259 - - 2 1 1 ZNF839|CCDS45164.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ZNF839|CCDS45164.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 10 12 10 12 0 0 ./. 4 6 5 6 49 52 49 52 5 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747013008 15 36589475 C CT 360 PASS - - - - - Ins - I 36589475 36589481 1 12 322.21 - - 5 1 1 - - ./. 0 0 0 0 15 21 15 21 0 0 ./. 5 1 7 2 28 25 29 25 7 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747025910 15 74185035 TCCC T 538 PASS TBC1D21 CCDS10252.1 r.? - - Del downstream D 74185035 74185039 3 35 536.415 - - 3 1 1 TBC1D21|CCDS10252.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TBC1D21|CCDS10252.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 14 9 14 9 0 0 ./. 6 4 6 4 18 18 18 18 6 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747032447 15 94567739 C CA 480 PASS - - - - - Ins - I 94567739 94567746 1 25 429.614 - - 6 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 4 7 5 28 30 29 31 7 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747032728 15 95325179 G GA 300 PASS - - - - - Ins - I 95325179 95325186 1 12 266.702 - - 6 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 3 2 3 6 24 23 24 25 3 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747035442 16 430369 TTTC T 501 PASS TMEM8A CCDS10407.1 r.? - - Del intronic D 430369 430375 3 56 689.233 - - 1 1 - TMEM8A|CCDS10407.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TMEM8A|CCDS10407.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 6 7 0 0 37 39 39 39 6 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747040480 16 10733984 C CTTCCTCCTCCCCCT 348 PASS TEKT5 CCDS10542.1 r.? - - Ins intronic I 10733984 10734002 14 33 526.687 - - 1 1 1 TEKT5|CCDS10542.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TEKT5|CCDS10542.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 4 6 4 0 0 ./. 2 10 3 7 29 31 30 32 3 11 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747046773 16 24556824 ATTTTC A 290 PASS RBBP6 CCDS10621.1 r.? - - Del intronic D 24556824 24556832 5 35 539.951 - - 1 1 1 RBBP6|CCDS10621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBBP6|CCDS10621.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 6 4 12 5 43 32 43 32 12 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747055133 16 51381813 C CAT 300 PASS - - - - - Ins - I 51381813 51381825 2 10 264.858 - - 5 1 - - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 4 5 12 32 41 32 41 5 12 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747060681 16 67383350 T TA 300 PASS LRRC36 CCDS32467.1 r.? - - Ins intronic I 67383350 67383352 1 12 267.868 - - 1 1 1 LRRC36|CCDS32467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRC36|CCDS32467.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 12 10 0 0 ./. 3 2 3 2 15 22 17 22 3 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747060726 16 67596824 ACGCC A 267 PASS CTCF CCDS10841.1 r.? - - Del intronic D 67596824 67596848 4 7 313.615 - - 5 1 - CTCF|CCDS10841.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CTCF|CCDS10841.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 0 6 1 10 16 32 16 32 1 10 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747077405 17 17287411 GGTTGCT G 537 PASS - - - - - Del - D 17287411 17287418 6 108 1027.17 - - 1 1 1 - - ./. 0 0 0 0 11 21 11 21 0 0 ./. 8 11 9 17 34 45 35 46 10 18 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747090839 17 47664179 ATTC A 689 PASS NXPH3 ENST00000513748 r.? - - Del downstream D 47664179 47664186 3 48 645.668 - - 2 1 1 NXPH3|ENST00000513748|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 NXPH3|ENST00000513748|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 10 7 10 0 0 ./. 7 5 9 7 37 40 37 40 9 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747092861 17 52967841 T TTG 300 PASS - - - - - Ins - I 52967841 52967845 2 12 264.764 - - 1 1 1 - - ./. 0 0 0 0 7 19 7 19 0 0 ./. 2 3 3 4 34 49 34 49 3 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747093850 17 55626259 TC T 360 PASS MSI2 CCDS11597.1 r.? - - Del intronic D 55626259 55626269 1 7 322.533 - - 9 1 1 MSI2|CCDS11597.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MSI2|CCDS11597.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 1 10 1 10 0 0 ./. 0 6 0 18 11 33 11 33 0 18 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747101234 17 71472758 A AT 420 PASS SDK2 CCDS45769.1 r.? - - Ins intronic I 71472758 71472767 1 20 374.884 - - 8 1 1 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 19 11 20 0 0 ./. 3 4 5 6 52 50 52 50 5 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747101267 17 71602098 G GT 300 PASS SDK2 CCDS45769.1 r.? - - Ins intronic I 71602098 71602105 1 12 265.968 - - 6 1 1 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SDK2|CCDS45769.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 17 7 17 0 0 ./. 2 3 3 6 26 30 27 31 3 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747107263 18 1963682 TTCTC T 447 PASS - - - - - Del - D 1963682 1963688 4 28 487.669 - - 2 1 1 - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 6 3 7 5 30 20 31 20 8 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747108191 18 3634289 C CT 780 PASS DLGAP1 CCDS11836.1 r.? - - Ins intronic I 3634289 3634296 1 50 696.584 - - 6 1 1 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 9 4 10 5 43 32 45 32 10 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747109570 18 7295214 A AT 300 PASS - - - - - Ins - I 7295214 7295224 1 12 266.713 - - 9 1 1 - - ./. 0 0 0 0 13 17 14 17 0 0 ./. 2 3 2 3 36 46 36 46 2 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747117983 18 30249380 G GA 300 PASS KLHL14 CCDS32813.1 r.? - - Ins downstream I 30249380 30249390 1 12 264.907 - - 9 1 1 KLHL14|CCDS32813.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 KLHL14|CCDS32813.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 3 14 3 15 0 0 ./. 2 3 2 3 46 45 46 46 2 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747120966 18 39457065 TGCC T 927 PASS - - - - - Del - D 39457065 39457069 3 88 916.336 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 10 7 11 8 39 31 40 31 12 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747124165 18 48495732 AC A 540 PASS ELAC1 CCDS11949.1 r.? - - Del intronic D 48495732 48495735 1 24 487.067 - - 2 1 1 ELAC1|CCDS11949.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ELAC1|CCDS11949.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 8 13 8 0 0 ./. 2 7 4 10 33 41 33 41 4 10 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747124255 18 48692340 A AAT 269 PASS - - - - - Ins - I 48692340 48692341 2 10 253.467 - - 0 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 1 0 0 40 32 40 32 4 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747133270 18 71661811 AG A 1018 PASS - - - - - Del - D 71661811 71661813 1 99 969.317 - - 1 1 1 - - ./. 0 0 0 0 13 8 13 8 0 0 ./. 10 8 11 11 29 33 29 33 11 11 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747138964 19 5949327 GC G 1200 PASS RANBP3 CCDS42478.1 r.? - - Del intronic D 5949327 5949330 1 120 1083.95 - - 2 1 1 RANBP3|CCDS42478.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RANBP3|CCDS42478.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 9 11 10 14 34 51 34 51 10 14 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747139835 19 7292103 C CCT 329 PASS INSR CCDS12176.1 r.? - - Ins intronic I 7292103 7292104 2 12 310.133 - - 0 1 1 INSR|CCDS12176.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 INSR|CCDS12176.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 5 0 1 22 35 22 35 1 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747146148 19 17880047 G GCAC 412 PASS FCHO1 CCDS32955.1 r.? - - Ins intronic I 17880047 17880051 3 24 414.314 - - 1 1 1 FCHO1|CCDS32955.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FCHO1|CCDS32955.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 3 5 4 7 17 27 17 27 4 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747149233 19 23403729 AC A 300 PASS ZNF724P ENST00000418100 r.? - - Del downstream D 23403729 23403731 1 6 254.13 - - 1 1 - ZNF724P|ENST00000418100|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ZNF724P|ENST00000418100|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 14 12 14 0 0 ./. 5 0 13 0 52 24 52 24 13 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747152711 19 33807828 C CT 300 PASS - - - - - Ins - I 33807828 33807838 1 12 267.977 - - 9 1 1 - - ./. 0 0 0 0 8 9 9 9 0 0 ./. 3 2 3 2 46 44 48 44 3 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747156166 19 40023604 AGTAGCCATTACGTCT A 522 PASS EID2B CCDS12539.1 r.? - - Del upstream D 40023604 40023626 15 100 974.953 - - 1 1 1 EID2B|CCDS12539.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 EID2B|CCDS12539.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 9 7 9 0 0 ./. 9 9 9 8 42 48 42 50 9 10 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747157331 19 42319858 T TG 600 PASS CEACAM5 CCDS12584.1 r.? - - Ins intronic I 42319858 42319859 1 36 526.321 - - 0 1 - CEACAM5|CCDS12584.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 CEACAM5|CCDS12584.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 14 16 15 0 0 ./. 5 5 10 10 34 39 35 39 10 10 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747158308 19 44813382 CA C 281 PASS ZNF235 CCDS33048.1 r.? - - Del upstream D 44813382 44813386 1 13 649.166 - - 3 1 1 ZNF235|CCDS33048.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ZNF235|ENST00000391957|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 27 7 27 0 0 ./. 12 0 0 1 27 69 39 69 12 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747164856 19 55642227 T TGC 478 PASS TNNT1 CCDS12917.1 r.? - - Ins downstream I 55642227 55642229 2 24 475.134 - - 0 1 - TNNT1|CCDS12917.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 TNNT1|CCDS12917.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 4 7 4 7 0 0 ./. 7 2 11 4 32 28 32 28 11 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747173773 2 20681093 AG A 300 PASS - - - - - Del - D 20681093 20681095 1 10 268.944 - - 1 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 4 1 4 1 42 27 42 27 4 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747175125 2 25041098 CA C 689 PASS ADCY3 CCDS1715.1 r.? - - Del downstream D 25041098 25041104 1 45 645.466 - - 5 1 1 ADCY3|CCDS1715.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CENPO|CCDS1714.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 8 4 9 5 40 36 40 36 9 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747187352 2 57161252 AAGGCTTCTGTTC A 261 PASS - - - - - Del - D 57161252 57161267 12 28 480.487 - - 1 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 6 3 6 3 37 23 37 23 6 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747188621 2 61456601 A AC 300 PASS USP34 CCDS42686.1 r.? - - Ins intronic I 61456601 61456602 1 12 256.301 - - 0 1 - USP34|CCDS42686.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USP34|CCDS42686.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 2 3 11 6 27 17 28 17 11 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747193461 2 74629188 AAGAG A 269 PASS - - - - - Del - D 74629188 74629204 4 6 241.249 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 0 5 2 5 20 21 20 21 2 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747196466 2 84464868 G GA 780 PASS - - - - - Ins - I 84464868 84464872 1 50 690.224 - - 3 1 1 - - ./. 0 0 0 0 11 8 11 8 0 0 ./. 4 9 7 12 21 29 21 29 7 12 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747208526 2 122168112 G GA 300 PASS CLASP1 ENST00000263710 r.? - - Ins intronic I 122168112 122168122 1 12 258.709 - - 9 1 1 CLASP1|ENST00000263710|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CLASP1|ENST00000263710|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 4 4 44 30 45 32 4 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747208706 2 122800888 G GA 420 PASS - - - - - Ins - I 122800888 122800898 1 20 369.899 - - 9 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 4 3 4 3 40 31 40 31 4 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747221960 2 160438238 GA G 398 PASS BAZ2B CCDS2209.2 r.? - - Del intronic D 160438238 160438241 1 45 645.466 - - 2 1 1 BAZ2B|CCDS2209.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 BAZ2B|CCDS2209.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 4 8 5 9 34 29 34 29 5 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747227492 2 175810659 G GTA 300 PASS CHN1 CCDS46455.1 r.? - - Ins intronic I 175810659 175810672 2 12 262.321 - - 6 1 - CHN1|CCDS46455.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHN1|CCDS46455.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 2 1 0 26 23 26 23 4 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747231139 2 187139643 C CA 300 PASS - - - - - Ins - I 187139643 187139653 1 12 264.73 - - 9 1 1 - - ./. 0 0 0 0 11 14 11 15 0 0 ./. 2 3 2 3 43 29 44 30 2 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747231933 2 189440730 TAC T 300 PASS GULP1 CCDS2295.1 r.? - - Del intronic D 189440730 189440748 2 10 268.342 - - 8 1 1 GULP1|CCDS2295.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GULP1|CCDS2295.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 9 12 9 0 0 ./. 1 4 1 4 23 29 23 29 1 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747232088 2 189981130 AAT A 1618 PASS COL5A2 CCDS33350.1 r.? - - Del intronic D 189981130 189981133 2 200 1501.27 - - 1 1 1 COL5A2|CCDS33350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 COL5A2|CCDS33350.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 9 19 9 21 32 54 32 54 9 21 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747232757 2 191876983 CA C 300 PASS STAT1 CCDS2309.1 r.? - - Del intronic D 191876983 191876993 1 12 268.342 - - 9 1 1 STAT1|CCDS2309.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 STAT1|CCDS2309.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 16 10 16 0 0 ./. 2 3 2 3 30 22 30 22 2 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747235661 2 200715842 TCGCCGCCGCGCGTGGCCCGCGCGCAGCCTC T 290 PASS - - - - - Del - D 200715842 200715900 30 35 522.837 - - 1 1 1 - - ./. 0 0 0 0 5 10 5 10 0 0 ./. 4 6 3 1 28 23 29 28 4 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747238648 2 208362945 G GA 300 PASS - - - - - Ins - I 208362945 208362947 1 12 265.934 - - 1 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 3 3 3 28 17 28 18 3 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747239159 2 209404194 TGA T 300 PASS - - - - - Del - D 209404194 209404211 2 10 268.944 - - 8 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 4 1 4 1 34 29 34 29 4 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747252182 20 1952713 CT C 629 PASS - - - - - Del - D 1952713 1952718 1 42 596.161 - - 4 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 6 8 6 38 47 38 47 8 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747255699 20 10162992 G GA 600 PASS - - - - - Ins - I 10162992 10163002 1 35 537.039 - - 9 1 1 - - ./. 0 0 0 0 8 6 9 6 0 0 ./. 6 4 9 9 38 35 38 35 9 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747265211 20 34224966 AAAAAC A 480 PASS CPNE1 CCDS13260.1 r.? - - Del intronic D 34224966 34224979 5 24 434.448 - - 2 1 1 CPNE1|CCDS13260.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CPNE1|CCDS13260.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 5 3 7 4 34 37 34 37 7 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747267707 20 40867350 GTTC G 720 PASS PTPRT CCDS42874.1 r.? - - Del intronic D 40867350 40867363 3 48 649.865 - - 4 1 1 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRT|CCDS42874.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 7 5 7 5 35 35 35 35 7 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747268131 20 42157738 TTC T 360 PASS L3MBTL CCDS46602.1 r.? - - Del intronic D 42157738 42157756 2 12 324.632 - - 8 1 1 L3MBTL|CCDS46602.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 L3MBTL|CCDS46602.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 1 5 1 5 40 48 40 48 1 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747268326 20 42556334 C CCCTTCCTTCCTTCCTTTCTTCCTTCCTTCCCTTCCCCTT 420 PASS TOX2 CCDS13324.1 r.? - - Ins intronic I 42556334 42556347 39 20 208.555 - - 0 1 - TOX2|CCDS13324.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 TOX2|CCDS13324.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 4 3 0 0 28 26 28 26 4 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747269353 20 45438127 C CA 600 PASS - - - - - Ins - I 45438127 45438136 1 27 536.437 - - 8 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 8 2 11 4 50 38 51 38 11 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747272882 20 52518120 C CT 480 PASS - - - - - Ins - I 52518120 52518128 1 25 429.631 - - 7 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 4 8 5 52 37 52 38 8 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747274348 20 55902969 TC T 898 PASS SPO11 CCDS13456.1 r.? - - Del upstream D 55902969 55902974 1 77 841.802 - - 4 1 1 SPO11|CCDS13456.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SPO11|CCDS13456.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 7 11 7 11 0 0 ./. 6 10 11 18 34 42 34 42 11 18 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747281752 21 16126004 GTC G 358 PASS - - - - - Del - D 16126004 16126010 2 20 380.561 - - 2 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 4 6 5 34 37 34 37 6 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747286044 21 27377465 A AC 420 PASS APP CCDS33523.1 r.? - - Ins intronic I 27377465 27377466 1 14 376.346 - - 0 1 1 APP|CCDS33523.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 APP|CCDS33523.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 6 1 6 3 33 26 33 26 6 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747290852 21 38924839 CAGGGAAAACACCATAAG C 319 PASS - - - - - Del - D 38924839 38924860 17 40 596.218 - - 1 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 7 4 7 36 41 36 41 4 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747303363 22 35768989 C CATTATTATT 290 PASS - - - - - Ins - I 35768989 35769014 9 27 491.293 - - 8 1 - - - ./. 0 0 0 0 10 7 11 7 0 0 ./. 8 2 8 1 46 32 48 33 9 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747304661 22 38610836 GCCCCGCCCACGGCCCGGA G 435 PASS MAFF CCDS13968.1 r.809_826del18 c.447_464del18 p.D155_P160delDPAHGP Del inframe D 38610836 38610872 18 70 802.564 - - 1 1 1 MAFF|CCDS13968.1|r.809_826del18|c.447_464del18|p.D155_P160delDPAHGP|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 MAFF|CCDS13968.1|r.809_826del18|c.447_464del18|p.D155_P160delDPAHGP|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 7 8 7 8 0 0 ./. 6 9 6 10 30 24 31 24 7 10 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747308438 22 47719340 GAC G 360 PASS - - - - - Del - D 47719340 47719358 2 15 324.879 - - 8 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 4 2 4 19 35 19 35 2 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747309288 22 49763992 T TA 300 PASS - - - - - Ins - I 49763992 49764000 1 10 269.127 - - 7 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 1 4 1 4 31 38 31 39 1 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747315595 3 13490578 T TTTTA 480 PASS - - - - - Ins - I 13490578 13490599 4 25 409.228 - - 5 1 - - - ./. 0 0 0 0 11 2 11 2 0 0 ./. 4 4 6 4 43 30 44 30 6 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747322112 3 31200135 G GA 360 PASS - - - - - Ins - I 31200135 31200141 1 15 316.704 - - 5 1 1 - - ./. 0 0 0 0 17 8 17 8 0 0 ./. 4 2 5 5 33 34 33 35 5 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747323947 3 36338081 GA G 1140 PASS - - - - - Del - D 36338081 36338089 1 104 1021.96 - - 7 1 1 - - ./. 0 0 0 0 11 15 11 15 0 0 ./. 7 12 7 13 27 41 27 41 7 13 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747324479 3 37652523 CA C 300 PASS ITGA9 CCDS2669.1 r.? - - Del intronic D 37652523 37652533 1 12 268.938 - - 9 1 1 ITGA9|CCDS2669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGA9|CCDS2669.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 3 2 3 32 44 32 44 2 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747330057 3 51883733 C CA 540 PASS - - - - - Ins - I 51883733 51883742 1 30 478.669 - - 8 1 1 - - ./. 0 0 0 0 11 8 12 8 0 0 ./. 5 4 5 4 47 33 47 33 5 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747346161 3 94847360 ATG A 300 PASS - - - - - Del - D 94847360 94847378 2 12 268.335 - - 8 1 - - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 3 4 36 43 36 43 3 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747347203 3 97843053 CA C 300 PASS - - - - - Del - D 97843053 97843063 1 10 268.938 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 1 4 1 4 37 37 37 37 1 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747349193 3 102206695 TTC T 360 PASS - - - - - Del - D 102206695 102206714 2 16 322.123 - - 9 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 3 3 3 3 49 52 49 52 3 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747353481 3 112481116 AAG A 300 PASS - - - - - Del - D 112481116 112481133 2 12 265.325 - - 8 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 3 4 3 48 51 48 51 4 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747362280 3 133010511 T TTAG 1527 PASS TMEM108 CCDS33858.1 r.? - - Ins intronic I 133010511 133010514 3 198 1400.49 - - 0 1 1 TMEM108|CCDS33858.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TMEM108|CCDS33858.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 19 7 19 0 0 ./. 17 10 20 16 46 48 46 49 20 16 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747363907 3 136716965 TC T 358 PASS IL20RB CCDS3093.1 r.? - - Del intronic D 136716965 136716967 1 8 346.41 - - 1 1 - IL20RB|CCDS3093.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL20RB|CCDS3093.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 0 7 0 12 33 42 33 42 0 12 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747364600 3 138454799 TTC T 360 PASS PIK3CB CCDS3104.1 r.? - - Del intronic D 138454799 138454817 2 16 322.725 - - 8 1 1 PIK3CB|CCDS3104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PIK3CB|CCDS3104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 3 3 4 3 58 46 58 46 4 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747373590 3 160054379 ATG A 300 PASS IFT80 CCDS3188.1 r.? - - Del intronic D 160054379 160054397 2 12 268.335 - - 8 1 - IFT80|CCDS3188.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IFT80|CCDS3188.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 2 3 3 3 41 31 41 31 3 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747373935 3 160781340 G GT 300 PASS PPM1L CCDS33886.1 r.? - - Ins intronic I 160781340 160781350 1 12 263.519 - - 9 1 1 PPM1L|CCDS33886.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PPM1L|CCDS33886.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 3 2 57 43 57 43 3 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747374999 3 163023250 G GA 360 PASS - - - - - Ins - I 163023250 163023260 1 7 319.113 - - 9 1 1 - - ./. 0 0 0 0 18 15 18 16 0 0 ./. 6 0 6 0 57 39 57 41 6 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747380098 3 175372979 TA T 360 PASS NAALADL2 CCDS46960.1 r.? - - Del intronic D 175372979 175372984 1 16 322.725 - - 4 1 1 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NAALADL2|CCDS46960.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 3 3 6 42 28 42 28 3 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747380672 3 176716735 TA T 300 PASS - - - - - Del - D 176716735 176716745 1 6 268.938 - - 9 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 5 0 5 0 53 34 53 34 5 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747382086 3 179635135 T TA 300 PASS PEX5L CCDS3236.1 r.? - - Ins intronic I 179635135 179635140 1 10 259.907 - - 4 1 1 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PEX5L|CCDS3236.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 1 4 4 4 44 61 44 61 4 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747382208 3 180070746 GA G 420 PASS - - - - - Del - D 180070746 180070752 1 20 376.513 - - 5 1 1 - - ./. 0 0 0 0 5 14 5 14 0 0 ./. 4 3 6 3 48 36 48 36 6 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747382266 3 180323055 GT G 960 PASS TTC14 CCDS46963.1 r.? - - Del intronic D 180323055 180323063 1 77 859.998 - - 7 1 1 TTC14|CCDS46963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC14|CCDS46963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 6 9 6 0 0 ./. 10 6 13 12 56 41 56 41 13 12 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747387224 3 190563695 C CAT 300 PASS - - - - - Ins - I 190563695 190563707 2 10 261.111 - - 5 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 4 1 5 1 68 27 68 27 5 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747387794 3 191902011 A AACAAT 1676 PASS FGF12 CCDS3301.1 r.? - - Ins intronic I 191902011 191902013 5 323 1719.8 - - 0 1 1 FGF12|CCDS3301.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FGF12|CCDS3301.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 15 4 15 0 0 ./. 16 18 17 20 39 51 40 51 17 20 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747388340 3 193396736 G GT 300 PASS OPA1 CCDS33917.1 r.? - - Ins intronic I 193396736 193396746 1 12 265.927 - - 9 1 1 OPA1|CCDS33917.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 OPA1|CCDS33917.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 15 8 16 0 0 ./. 3 2 3 2 41 41 41 42 3 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747390525 3 196891799 AG A 300 PASS DLG1 CCDS3327.1 r.? - - Del intronic D 196891799 196891801 1 10 267.733 - - 1 1 - DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLG1|CCDS3327.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 1 4 2 8 29 60 29 60 2 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747392260 4 3319805 C CGGAGGCCCGGCCTCCTCACTTAGCAGCCTCAGCGT 319 PASS RGS12 CCDS3367.1 r.? - - Ins intronic I 3319805 3319832 35 42 357.674 - - 0 1 1 RGS12|CCDS3367.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RGS12|CCDS3367.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 6 0 0 48 30 52 36 5 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747397969 4 19633740 CAG C 300 PASS - - - - - Del - D 19633740 19633760 2 6 262.685 - - 9 1 - - - ./. 0 0 0 0 12 12 12 12 0 0 ./. 0 5 0 5 25 28 25 28 0 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747408869 4 49109300 C CCATTCCATTCCATTG 430 PASS ENSG00000232657 ENST00000417204 r.? - - Ins downstream I 49109300 49109312 15 19 806.953 - - 0 1 1 ENSG00000232657|ENST00000417204|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ENSG00000232657|ENST00000417204|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 162 30 167 30 0 0 ./. 18 0 3 0 461 86 514 89 27 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747411115 4 56209282 CAAAAAAAAAAAAAAAAAAAAAA C 290 PASS SRD5A3 CCDS3498.1 r.? - - Del upstream D 56209282 56209322 22 35 480.216 - - 1 1 - SRD5A3|CCDS3498.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 SRD5A3|CCDS3498.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 8 4 8 4 0 0 ./. 4 6 7 7 13 13 14 14 8 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747427504 4 104727842 A AT 600 PASS - - - - - Ins - I 104727842 104727852 1 35 532.596 - - 9 1 1 - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 4 6 5 6 26 42 26 42 5 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747435023 4 127332696 AATAGAATC A 348 PASS - - - - - Del - D 127332696 127332710 8 48 646.339 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 7 7 7 37 35 37 35 7 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747435902 4 129988405 A AC 300 PASS SCLT1 CCDS3740.1 r.? - - Ins intronic I 129988405 129988407 1 12 266.298 - - 1 1 1 SCLT1|CCDS3740.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCLT1|CCDS3740.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 3 2 30 26 30 27 3 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747441660 4 147432311 G GA 569 PASS SLC10A7 CCDS34073.1 r.? - - Ins intronic I 147432311 147432321 1 36 530.789 - - 9 1 1 SLC10A7|CCDS34073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC10A7|CCDS34073.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 5 5 5 6 38 45 38 45 5 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747444138 4 154567426 C CA 360 PASS - - - - - Ins - I 154567426 154567431 1 16 319.557 - - 4 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 3 3 3 4 31 38 31 43 3 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747449152 4 168487526 G GA 360 PASS - - - - - Ins - I 168487526 168487535 1 16 319.557 - - 8 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 3 3 4 5 32 31 32 32 4 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747454478 4 182322957 TC T 300 PASS - - - - - Del - D 182322957 182322959 1 6 247.032 - - 1 1 - - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 5 0 7 0 34 22 34 22 7 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747456620 4 187100064 GT G 900 PASS - - - - - Del - D 187100064 187100067 1 72 807.924 - - 2 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 8 7 13 8 30 26 30 26 13 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747458225 4 190479500 CA C 1109 PASS - - - - - Del - D 190479500 190479508 1 98 1023.37 - - 7 1 1 - - ./. 0 0 0 0 32 41 32 41 0 0 ./. 6 13 8 17 92 119 92 119 8 17 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747459666 5 439195 C CT 300 PASS AHRR CCDS43297.1 r.? - - Ins downstream I 439195 439205 1 12 265.624 - - 9 1 - AHRR|CCDS43297.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 EXOC3|ENST00000512944|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 17 14 19 14 0 0 ./. 3 2 5 2 60 47 63 48 5 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747460982 5 3663794 C CT 329 PASS - - - - - Ins - I 3663794 3663803 1 15 319.472 - - 8 1 1 - - ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 2 6 5 55 38 56 38 6 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747464644 5 13026973 AT A 300 PASS - - - - - Del - D 13026973 13026983 1 12 269.237 - - 9 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 2 3 2 3 32 57 32 57 2 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747466942 5 18191546 CT C 480 PASS - - - - - Del - D 18191546 18191550 1 24 430.177 - - 3 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 5 3 5 8 23 30 23 30 5 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747468445 5 21466456 TATTAA T 684 PASS - - - - - Del - D 21466456 21466465 5 50 699.414 - - 1 1 1 - - ./. 0 0 0 0 17 7 17 7 0 0 ./. 9 4 9 4 49 35 49 35 9 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747469460 5 24036374 T TA 509 PASS - - - - - Ins - I 24036374 24036384 1 30 467.167 - - 9 1 1 - - ./. 0 0 0 0 11 10 12 10 0 0 ./. 4 5 5 4 39 39 40 40 5 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747476492 5 40636890 CA C 1200 PASS - - - - - Del - D 40636890 40636900 1 117 1076.35 - - 9 1 1 - - ./. 0 0 0 0 7 15 7 15 0 0 ./. 8 12 11 16 39 45 39 45 11 16 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747478976 5 50642279 G GT 298 PASS - - - - - Ins - I 50642279 50642285 1 16 319.472 - - 5 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 3 3 5 4 39 39 39 41 5 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747480532 5 54722932 AG A 300 PASS SKIV2L2 CCDS3967.1 r.? - - Del downstream D 54722932 54722934 1 6 246.961 - - 1 1 1 SKIV2L2|CCDS3967.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PPAP2A|CCDS34159.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 5 0 9 0 49 34 49 34 9 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747486461 5 69117913 CT C 363 PASS - - - - - Del - D 69117913 69117917 1 14 700.016 - - 3 1 1 - - ./. 0 0 0 0 18 5 18 5 0 0 ./. 13 0 18 0 78 44 78 44 18 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747493295 5 85603984 CAG C 360 PASS - - - - - Del - D 85603984 85604004 2 15 322.482 - - 9 1 1 - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 2 4 5 4 67 55 67 55 6 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747493313 5 85620992 C CA 300 PASS - - - - - Ins - I 85620992 85621002 1 10 266.227 - - 9 1 1 - - ./. 0 0 0 0 10 7 10 8 0 0 ./. 4 1 4 1 56 34 56 36 4 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747494499 5 89497703 GTC G 300 PASS - - - - - Del - D 89497703 89497719 2 10 263.216 - - 7 1 - - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 1 4 0 52 35 52 35 4 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747495562 5 92861738 C CA 300 PASS - - - - - Ins - I 92861738 92861746 1 6 265.022 - - 7 1 1 - - ./. 0 0 0 0 8 17 8 17 0 0 ./. 0 5 2 6 33 48 33 48 2 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747497352 5 97981858 G GA 300 PASS - - - - - Ins - I 97981858 97981868 1 10 265.625 - - 9 1 1 - - ./. 0 0 0 0 17 13 18 13 0 0 ./. 4 1 4 1 43 40 43 42 4 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747497514 5 98532598 AG A 720 PASS - - - - - Del - D 98532598 98532603 1 40 645.566 - - 4 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 3 9 10 13 42 42 42 42 10 13 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747501508 5 109192481 TGC T 300 PASS MAN2A1 CCDS34209.1 r.? - - Del intronic D 109192481 109192485 2 12 265.022 - - 1 1 1 MAN2A1|CCDS34209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAN2A1|CCDS34209.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 3 5 46 42 46 42 3 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747505019 5 118769746 C CT 960 PASS - - - - - Ins - I 118769746 118769755 1 80 848.313 - - 8 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 9 7 9 11 55 51 56 51 9 11 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747509795 5 131979421 G GT 480 PASS RAD50 CCDS34233.1 r.5691_5692insu c.? p.? Ins 3'UTR variant I 131979421 131979422 1 24 425.36 - - 0 1 1 RAD50|CCDS34233.1|r.5691_5692insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 RAD50|CCDS34233.1|r.5691_5692insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 6 6 6 6 0 0 ./. 3 5 4 9 25 22 26 22 4 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747512528 5 138467735 TAC T 300 PASS SIL1 CCDS4209.1 r.? - - Del intronic D 138467735 138467751 2 12 269.237 - - 7 1 - SIL1|CCDS4209.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SIL1|CCDS4209.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 5 7 5 0 0 ./. 3 2 4 3 53 42 53 42 4 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747513517 5 140767908 ATAT A 473 PASS PCDHGA12 CCDS47291.1 r.? - - Del upstream D 140767908 140767914 3 36 537.27 - - 1 1 1 PCDHGA12|CCDS47291.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PCDHGA12|CCDS47289.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 5 9 7 36 35 36 35 9 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747517897 5 152063708 AAC A 300 PASS - - - - - Del - D 152063708 152063712 2 6 261.41 - - 1 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 0 7 0 44 61 44 61 7 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747520781 5 159108893 A AT 1229 PASS - - - - - Ins - I 159108893 159108902 1 120 1103.7 - - 8 1 1 - - ./. 0 0 0 0 15 12 15 12 0 0 ./. 7 14 12 20 40 40 40 42 12 20 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747524760 5 168897592 CCT C 300 PASS - - - - - Del - D 168897592 168897609 2 12 268.033 - - 8 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 3 2 7 2 63 35 63 35 7 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747527391 5 174659247 A AAGAAGG 319 PASS - - - - - Ins - I 174659247 174659250 6 22 552.585 - - 0 1 - - - ./. 0 0 0 0 9 15 9 15 0 0 ./. 10 1 0 0 52 40 54 40 10 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747528351 5 176634906 AGT A 300 PASS NSD1 CCDS4412.1 r.? - - Del intronic D 176634906 176634924 2 12 268.635 - - 8 1 - NSD1|CCDS4412.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NSD1|CCDS4412.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 3 10 3 0 0 ./. 3 2 4 3 41 29 41 29 4 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747540739 6 22703094 AAG A 269 PASS - - - - - Del - D 22703094 22703112 2 10 266.719 - - 8 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 1 4 1 4 29 28 29 28 1 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747548330 6 36921295 AGT A 300 PASS PI16 CCDS34440.1 r.? - - Del upstream D 36921295 36921312 2 12 269.73 - - 8 1 - PI16|CCDS34440.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 PI16|CCDS34440.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 18 5 18 5 0 0 ./. 3 2 5 2 40 32 40 32 5 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747554501 6 52852049 CTGTTCTGAATGTTCAGTGTCATTGAATACTTTTGCCCTTCCACATAAACAGCAGCTCTTAAAGGAAAATCAGTATTAGAGGCAGTTGTTTCATTTTCATACTCACCATCCTGCAACTTGTACAACTGTTCTTTTGTTTCCAGAAATTCTTCATCAAACTAAATTTTTAAAAAAGAAACGTATATATACATAGTGGAATATTATTCAGCCATTAAGAAAACAAAATCCTGTCATTTTCAGCAACACCAACAGAAACAGAGGTCATTACGTTAAGTGAAATAAGCCAGGCACAGAAAGACAAAGACTGCATGTTCTGATTCATATGTGGGAGCTAAAAAAGTGGATCTCATGGAAATAGAAAGTTGATTGGTGCTTACTAGAGGCTGGGAAGTGTAGAGAGGAATGGGATGTGAAAAGAGGTTGGTTAATGGTACATAAATACAGCTAGACAGAAGAAATAAAATCTAGTGTTCGATAGTACAGTAGGCTATAGTTAACAATAACGT CAATAACGTA 290 PASS GSTA4 CCDS4948.1 r.236-348_287+105del505insuacguuauu c.88-348_139+105del505insTACGTTATT p.? Complex ess splice DI 52852050 52852554 505 32 0 - - 0 1 1 GSTA4|CCDS4948.1|r.236-348_287+105del505insuacguuauu|c.88-348_139+105del505insTACGTTATT|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:indel:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:1000032:SO:0001577:SO:0001576 GSTA4|CCDS4948.1|r.236-348_287+105del505insuacguuauu|c.88-348_139+105del505insTACGTTATT|p.?|protein_coding:CDS:extended_intronic_splice_region:exon:extended_cis_splice_site:intron:indel:complex_change_in_transcript:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000147:SO:CGPX06:SO:0000188:SO:1000032:SO:0001577:SO:0001576 ./. 0 0 0 0 13 10 13 10 0 0 ./. 7 3 0 0 23 24 30 27 7 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747555055 6 54221415 GCT G 300 PASS TINAG CCDS4955.1 r.? - - Del intronic D 54221415 54221430 2 12 269.73 - - 7 1 1 TINAG|CCDS4955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TINAG|CCDS4955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 3 2 2 2 43 40 43 40 3 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747559892 6 68513488 G GA 360 PASS - - - - - Ins - I 68513488 68513497 1 15 320.063 - - 8 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 4 2 5 4 33 17 33 17 5 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747584682 6 151251156 A AT 840 PASS MTHFD1L CCDS5228.1 r.? - - Ins intronic I 151251156 151251163 1 63 744.406 - - 6 1 1 MTHFD1L|CCDS5228.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTHFD1L|CCDS5228.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 6 5 6 0 0 ./. 8 6 10 6 25 19 26 19 10 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747591495 7 842564 A AAG 420 PASS - - - - - Ins - I 842564 842580 2 20 368.275 - - 7 1 1 - - ./. 0 0 0 0 12 12 12 13 0 0 ./. 4 3 5 6 48 48 48 48 5 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747592949 7 4211100 G GT 360 PASS SDK1 CCDS34590.1 r.? - - Ins intronic I 4211100 4211108 1 15 319.19 - - 7 1 1 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 6 13 6 0 0 ./. 2 4 4 6 36 45 37 46 4 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747593031 7 4419984 TCCAA T 360 PASS - - - - - Del - D 4419984 4419992 4 15 323.405 - - 1 1 1 - - ./. 0 0 0 0 17 12 17 12 0 0 ./. 4 2 6 6 46 48 46 48 6 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747594331 7 6428251 A AG 720 PASS RAC1 CCDS5348.1 r.? - - Ins intronic I 6428251 6428254 1 48 636.575 - - 2 1 1 RAC1|CCDS5348.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAC1|CCDS5348.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 5 7 6 8 23 27 23 27 6 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747596733 7 12825775 T TTTG 267 PASS - - - - - Ins - I 12825775 12825778 3 12 312.568 - - 0 1 - - - ./. 0 0 0 0 12 7 12 7 0 0 ./. 1 5 1 0 41 34 41 34 1 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747599187 7 19417320 GGT G 300 PASS - - - - - Del - D 19417320 19417324 2 6 268.3 - - 1 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 0 6 0 31 17 31 17 6 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747600096 7 21705298 C CT 480 PASS DNAH11 ENST00000424253 r.? - - Ins intronic I 21705298 21705305 1 25 425.788 - - 6 1 1 DNAH11|ENST00000424253|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNAH11|ENST00000424253|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 4 4 4 31 47 31 47 4 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747600300 7 22167329 AACTATAC AG 377 PASS RAPGEF5 ENST00000344041 r.? - - Complex intronic DI 22167330 22167336 7 56 0 - - 0 1 1 RAPGEF5|ENST00000344041|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 RAPGEF5|ENST00000344041|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 14 15 14 15 0 0 ./. 7 6 0 0 28 21 28 21 7 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747604170 7 32449713 C CA 329 PASS - - - - - Ins - I 32449713 32449720 1 15 319.792 - - 6 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 4 2 5 2 19 24 19 24 5 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747606543 7 38345301 C CA 281 PASS AC006033.10 ENST00000499120 r.? - - Ins upstream I 38345301 38345311 1 18 370.081 - - 9 1 1 AC006033.10|ENST00000499120|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 AC006033.10|ENST00000499120|r.?|-|-|non_protein_coding:insertion:2KB_upstream_variant|SO:0000011:SO:0000667:SO:0001636 ./. 0 0 0 0 10 7 10 7 0 0 ./. 2 5 0 1 19 30 20 30 2 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747607383 7 40144837 CCAAATACTTCAGGAAAAAAATATTT C 261 PASS - - - - - Del - D 40144837 40144863 25 28 485.107 - - 1 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 6 3 5 19 47 19 48 3 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747609522 7 45484195 G GT 480 PASS - - - - - Ins - I 45484195 45484197 1 21 426.39 - - 1 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 6 2 7 4 29 45 29 45 7 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747612410 7 53523064 CTT C 660 PASS - - - - - Del - D 53523064 53523067 2 30 592.909 - - 2 1 1 - - ./. 0 0 0 0 7 10 7 10 0 0 ./. 2 9 2 10 4 35 4 35 2 10 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747619937 7 69737597 G GT 269 PASS AUTS2 CCDS5539.1 r.? - - Ins intronic I 69737597 69737607 1 12 265.29 - - 9 1 1 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AUTS2|CCDS5539.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 7 15 7 0 0 ./. 3 2 3 2 49 48 52 48 3 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747621135 7 72212444 T TA 660 PASS - - - - - Ins - I 72212444 72212453 1 42 586.286 - - 8 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 6 5 10 7 48 31 48 31 10 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747622707 7 75671601 C CT 600 PASS STYXL1 CCDS5580.1 r.? - - Ins intronic I 75671601 75671603 1 27 532.385 - - 1 1 1 STYXL1|CCDS5580.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 STYXL1|CCDS5580.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 8 4 9 27 41 28 42 4 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747623665 7 77836461 G GT 360 PASS MAGI2 CCDS5594.1 r.? - - Ins intronic I 77836461 77836471 1 15 311.966 - - 9 1 1 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MAGI2|CCDS5594.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 4 2 4 45 33 45 34 2 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747627605 7 88871129 TC T 300 PASS ZNF804B CCDS5613.1 r.? - - Del intronic D 88871129 88871131 1 12 261.075 - - 1 1 1 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF804B|CCDS5613.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 15 8 15 0 0 ./. 3 2 8 2 44 38 44 38 8 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747629763 7 95287504 GGT G 269 PASS - - - - - Del - D 95287504 95287507 2 6 252.044 - - 1 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 5 0 6 0 30 44 30 44 6 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747635482 7 107630773 C CT 720 PASS LAMB1 CCDS5750.1 r.? - - Ins intronic I 107630773 107630775 1 48 638.983 - - 1 1 1 LAMB1|CCDS5750.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LAMB1|CCDS5750.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 16 6 16 0 0 ./. 5 7 6 9 20 38 21 40 6 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747637381 7 113709584 AGT A 300 PASS PPP1R3A ENST00000449795 r.? - - Del intronic D 113709584 113709604 2 10 269.504 - - 9 1 - PPP1R3A|ENST00000449795|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PPP1R3A|ENST00000449795|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 1 4 1 5 37 44 37 44 1 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747640854 7 124520215 T TA 269 PASS POT1 CCDS5793.1 r.? - - Ins intronic I 124520215 124520225 1 12 256.861 - - 9 1 1 POT1|CCDS5793.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 POT1|CCDS5793.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 2 3 3 3 35 41 35 42 3 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747641440 7 126036354 A AT 1109 PASS - - - - - Ins - I 126036354 126036364 1 108 1006.05 - - 9 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 8 11 10 16 32 47 32 47 10 16 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747642837 7 129170492 A AC 300 PASS - - - - - Ins - I 129170492 129170493 1 10 234.585 - - 0 1 1 - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 1 4 2 5 23 35 24 36 2 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747645429 7 134729461 AT A 658 PASS AGBL3 CCDS47718.1 r.? - - Del intronic D 134729461 134729464 1 45 646.208 - - 2 1 1 AGBL3|CCDS47718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGBL3|CCDS47718.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 8 4 11 7 44 26 44 26 11 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747649906 7 146495386 CT C 540 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 146495386 146495394 1 28 473.668 - - 7 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 3 6 4 11 28 52 28 52 5 11 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747655817 8 772060 AT A 360 PASS - - - - - Del - D 772060 772065 1 16 322.679 - - 4 1 1 - - ./. 0 0 0 0 13 18 13 18 0 0 ./. 3 3 5 6 41 43 41 43 5 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747657385 8 4322551 G GA 480 PASS - - - - - Ins - I 4322551 4322558 1 25 422.211 - - 6 1 1 - - ./. 0 0 0 0 9 10 9 10 0 0 ./. 4 4 5 4 42 33 42 34 5 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747661655 8 14313747 GTC G 600 PASS SGCZ CCDS5992.2 r.? - - Del intronic D 14313747 14313753 2 32 538.6 - - 2 1 1 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 8 5 8 0 0 ./. 3 7 3 9 24 41 24 41 3 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747661658 8 14327812 CT C 360 PASS SGCZ CCDS5992.2 r.? - - Del intronic D 14327812 14327814 1 15 323.883 - - 1 1 1 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SGCZ|CCDS5992.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 17 12 17 0 0 ./. 4 2 5 4 27 53 27 53 5 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747662271 8 15757698 AG A 300 PASS - - - - - Del - D 15757698 15757700 1 12 269.902 - - 1 1 1 - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 2 3 3 3 37 36 37 36 3 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747664280 8 20935021 TAC T 360 PASS - - - - - Del - D 20935021 20935040 2 15 322.679 - - 9 1 - - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 2 4 3 4 29 40 29 40 3 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747665243 8 23276703 T TA 660 PASS ENTPD4 ENST00000356206 r.? - - Ins intronic I 23276703 23276706 1 42 587.162 - - 2 1 1 ENTPD4|ENST00000356206|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENTPD4|ENST00000356206|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 7 11 7 0 0 ./. 5 6 9 7 40 32 40 32 9 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747666824 8 27240756 A AC 989 PASS PTK2B CCDS6057.1 r.? - - Ins intronic I 27240756 27240764 1 78 906.831 - - 7 1 1 PTK2B|CCDS6057.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTK2B|CCDS6057.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 17 9 0 0 ./. 12 5 17 4 60 34 60 35 17 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747668059 8 30014453 GAC G 300 PASS DCTN6 CCDS6076.1 r.? - - Del intronic D 30014453 30014471 2 12 266.892 - - 8 1 1 DCTN6|CCDS6076.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCTN6|CCDS6076.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 11 7 11 0 0 ./. 3 2 3 2 41 40 41 40 3 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747669912 8 34806900 A AT 660 PASS - - - - - Ins - I 34806900 34806909 1 42 587.162 - - 8 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 6 8 7 44 27 44 27 8 7 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747672425 8 41334470 G GC 420 PASS - - - - - Ins - I 41334470 41334475 1 20 361.006 - - 4 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 4 3 5 5 43 41 43 41 5 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747672965 8 42529744 ATGGATAAATGGATGGATAAATGAATGGATGGATGGG A 329 PASS - - - - - Del - D 42529744 42529798 36 16 307.627 - - 1 1 - - - ./. 0 0 0 0 15 8 16 8 0 0 ./. 3 3 0 0 29 38 34 41 3 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747674242 8 49927691 C CT 600 PASS - - - - - Ins - I 49927691 49927699 1 32 531.978 - - 7 1 1 - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 3 7 4 8 26 33 27 33 4 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747675479 8 53684692 C CA 780 PASS - - - - - Ins - I 53684692 53684702 1 56 692.113 - - 9 1 1 - - ./. 0 0 0 0 18 13 18 13 0 0 ./. 7 6 10 9 49 39 49 39 10 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747676298 8 55830586 GAT G 960 PASS - - - - - Del - D 55830586 55830591 2 80 863.687 - - 2 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 7 9 10 11 34 38 34 38 10 11 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747681152 8 70546978 G GA 269 PASS SULF1 CCDS6204.1 r.? - - Ins intronic I 70546978 70546988 1 6 259.065 - - 9 1 1 SULF1|CCDS6204.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SULF1|CCDS6204.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 0 5 0 5 21 58 22 59 0 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747682896 8 74958493 GA G 300 PASS - - - - - Del - D 74958493 74958495 1 10 269.902 - - 1 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 1 4 1 6 24 38 24 38 1 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747682911 8 74993246 TTTC T 582 PASS - - - - - Del - D 74993246 74993252 3 24 647.164 - - 1 1 - - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 1 11 0 5 15 59 15 59 1 11 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747683189 8 75737975 TAGAG T 329 PASS PI15 CCDS6218.1 r.? - - Del intronic D 75737975 75737983 4 12 323.883 - - 3 1 1 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PI15|CCDS6218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 1 5 3 8 30 37 30 37 3 8 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747688946 8 93024605 CA C 720 PASS RUNX1T1 CCDS47891.1 r.? - - Del intronic D 93024605 93024613 1 49 647.766 - - 7 1 1 RUNX1T1|CCDS47891.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RUNX1T1|CCDS47891.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 3 8 3 0 0 ./. 6 6 7 6 29 28 29 28 7 6 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747691303 8 99081359 A AT 1320 PASS C8orf47 CCDS34929.1 r.? - - Ins intronic I 99081359 99081368 1 140 1164.69 - - 8 1 1 C8orf47|CCDS34929.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C8orf47|CCDS34929.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 12 10 0 0 ./. 13 9 16 13 35 36 35 36 16 13 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747691391 8 99238834 TTC T 269 PASS NIPAL2 CCDS6278.1 r.? - - Del intronic D 99238834 99238852 2 12 268.698 - - 8 1 - NIPAL2|CCDS6278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NIPAL2|CCDS6278.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 2 3 3 3 49 34 49 34 3 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747692620 8 102840288 AG A 720 PASS NCALD CCDS6292.1 r.? - - Del intronic D 102840288 102840290 1 45 645.357 - - 1 1 1 NCALD|CCDS6292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NCALD|CCDS6292.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 16 11 16 0 0 ./. 8 4 9 5 46 33 46 33 9 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747692746 8 103241504 A AC 300 PASS RRM2B CCDS34932.1 r.? - - Ins intronic I 103241504 103241505 1 12 264.484 - - 0 1 - RRM2B|CCDS34932.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RRM2B|CCDS34932.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 2 3 2 33 44 33 44 3 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747696803 8 114713203 GGT G 300 PASS - - - - - Del - D 114713203 114713220 2 12 269.902 - - 8 1 1 - - ./. 0 0 0 0 10 15 10 15 0 0 ./. 3 2 5 2 35 21 35 21 5 2 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747697513 8 116640231 AAT A 1109 PASS TRPS1 CCDS6318.2 r.? - - Del intronic D 116640231 116640237 2 108 1021.41 - - 2 1 1 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 TRPS1|CCDS6318.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 12 14 12 0 0 ./. 8 11 13 14 46 45 46 45 13 14 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747705168 8 138597035 C CT 660 PASS - - - - - Ins - I 138597035 138597042 1 42 587.162 - - 6 1 1 - - ./. 0 0 0 0 15 18 15 18 0 0 ./. 5 6 8 9 26 27 26 27 8 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747710285 9 6614569 TG T 300 PASS GLDC CCDS34987.1 r.? - - Del intronic D 6614569 6614571 1 6 251.515 - - 1 1 1 GLDC|CCDS34987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLDC|CCDS34987.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 5 0 7 0 31 23 31 23 7 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747714949 9 17927996 T TC 300 PASS - - - - - Ins - I 17927996 17927997 1 12 256.332 - - 0 1 - - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 3 3 4 28 40 28 40 3 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747717998 9 26910038 A AT 360 PASS PLAA CCDS35000.1 r.? - - Ins intronic I 26910038 26910047 1 15 320.001 - - 8 1 1 PLAA|CCDS35000.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLAA|CCDS35000.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 2 8 4 31 38 31 38 8 4 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747723155 9 39015601 G GT 261 PASS - - - - - Ins - I 39015601 39015611 1 10 480.302 - - 9 1 1 - - ./. 0 0 0 0 7 15 9 15 0 0 ./. 9 0 9 0 28 41 28 41 9 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747727427 9 69787653 A ACAAAAAGCCGCGGCGATGAGGGTCAAAAAGCCGCGGCGGCAGGGGG 302 PASS - - - - - Ins - I 69787653 69787669 46 22 287.344 - - 0 1 1 - - ./. 0 0 0 0 16 2 16 2 0 0 ./. 10 1 0 0 44 11 46 11 10 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747730723 9 78022039 C CA 840 PASS - - - - - Ins - I 78022039 78022043 1 63 748.073 - - 3 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 6 8 9 11 33 31 33 31 9 11 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747731812 9 80580767 A AG 360 PASS GNAQ CCDS6658.1 r.? - - Ins intronic I 80580767 80580768 1 12 320.001 - - 0 1 1 GNAQ|CCDS6658.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GNAQ|CCDS6658.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 5 1 6 1 32 31 33 31 6 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747733468 9 85273691 TATTG T 298 PASS - - - - - Del - D 85273691 85273704 4 16 324.215 - - 3 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 3 6 5 43 21 43 21 6 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747738965 9 99078774 C CCA 389 PASS SLC35D2 CCDS6717.1 r.? - - Ins downstream I 99078774 99078775 2 8 360.791 - - 0 1 1 SLC35D2|CCDS6717.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 SLC35D2|CCDS6717.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 6 14 6 14 0 0 ./. 0 7 0 2 23 38 23 39 0 9 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747755265 9 139614362 AGTGCAGGGGGCTGTGTGGTCTGGGGCTCCGG A 329 PASS FAM69B CCDS7004.1 r.? - - Del intronic D 139614362 139614412 31 12 323.011 - - 1 1 - FAM69B|CCDS7004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM69B|CCDS7004.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 1 5 0 0 12 27 12 27 1 5 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747755373 9 139860191 A AAAAAACAAAC 327 PASS C9orf141 ENST00000371629 r.? - - Ins upstream I 139860191 139860197 10 36 483.013 - - 0 1 1 C9orf141|ENST00000371629|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 C9orf141|ENST00000371629|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 7 6 7 6 0 0 ./. 8 3 0 0 36 17 36 20 8 3 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747764658 X 61722976 TA T 515 PASS - - - - - Del - D 61722976 61722978 1 36 1902.9 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 35 0 0 1 37 28 72 28 35 1 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747772546 X 114349383 C CA 660 PASS LRCH2 CCDS48155.1 r.? - - Ins intronic I 114349383 114349391 1 36 591.432 - - 7 1 1 LRCH2|CCDS48155.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRCH2|CCDS48155.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 4 7 4 0 0 ./. 3 8 6 10 11 19 11 19 6 10 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747780584 Y 13350544 CCAG C 271 PASS ENSG00000188681 ENST00000400754 r.? - - Del intronic D 13350544 13350550 3 12 602.141 - - 1 1 1 ENSG00000188681|ENST00000400754|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000188681|ENST00000400754|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 4 25 4 0 0 ./. 11 0 13 0 86 22 86 22 13 0 1 1 1 1 1 1 1 1 2731395 PD20348a PD20348b 2747781637 Y 13726488 AAGAATGGAAT A 270 PASS - - - - - Del - D 13726488 13726499 10 19 987.292 - - 1 1 1 - - ./. 0 0 0 0 0 26 0 26 0 0 ./. 0 18 0 1 0 146 0 146 0 19 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748936711 1 62728693 G GA 420 PASS KANK4 CCDS620.1 r.? - - Ins intronic I 62728693 62728701 1 20 369.824 - - 7 1 1 KANK4|CCDS620.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KANK4|CCDS620.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 11 7 0 0 ./. 3 4 5 6 22 21 22 21 5 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748937990 1 66302299 C CT 420 PASS PDE4B CCDS632.1 r.? - - Ins intronic I 66302299 66302309 1 20 371.028 - - 9 1 1 PDE4B|CCDS632.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PDE4B|CCDS632.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 3 4 6 6 30 39 31 39 6 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748939703 1 71921039 GATGAAAGTCTAATATCA G 377 PASS NEGR1 CCDS661.1 r.? - - Del intronic D 71921039 71921057 17 54 699.115 - - 1 1 1 NEGR1|CCDS661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NEGR1|CCDS661.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 12 12 12 0 0 ./. 5 8 5 5 24 23 24 26 5 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748947129 1 95285475 TGA T 960 PASS SLC44A3 CCDS751.1 r.? - - Del upstream D 95285475 95285480 2 80 860.449 - - 2 1 1 SLC44A3|CCDS751.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SLC44A3|CCDS751.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 14 13 14 13 0 0 ./. 7 9 10 11 24 25 24 25 10 11 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748952001 1 111209690 GGT G 300 PASS KCNA3 CCDS828.2 r.? - - Del downstream D 111209690 111209707 2 12 267.686 - - 8 1 1 KCNA3|CCDS828.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KCNA3|CCDS828.2|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 5 9 5 0 0 ./. 2 3 2 3 35 25 35 25 2 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748963982 1 164697567 A AAG 300 PASS PBX1 CCDS1246.1 r.? - - Ins intronic I 164697567 164697587 2 10 259.859 - - 9 1 1 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 4 1 6 2 29 14 29 14 6 2 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748967463 1 176137642 G GAGGGAGGGAGGAAGGGAGGAAGGCAGGAAGGGAGGGAAGAAGGA 300 PASS RFWD2 CCDS30944.1 r.? - - Ins intronic I 176137642 176137654 44 12 132.825 - - 0 1 1 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RFWD2|CCDS30944.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 8 8 8 0 0 ./. 2 3 0 0 20 15 20 15 2 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748969145 1 181489315 AT A 600 PASS CACNA1E ENST00000367573 r.? - - Del intronic D 181489315 181489320 1 35 537.781 - - 4 1 1 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 4 7 6 21 30 21 30 7 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748980435 1 216051381 G GT 300 PASS USH2A CCDS31025.1 r.? - - Ins intronic I 216051381 216051391 1 12 265.88 - - 9 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 2 3 2 3 19 35 19 35 2 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748980526 1 216440186 CTA C 480 PASS USH2A CCDS31025.1 r.? - - Del intronic D 216440186 216440190 2 24 429.02 - - 1 1 1 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 2 13 2 13 0 0 ./. 3 5 3 7 14 21 14 21 3 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748986613 1 234754079 CTA C 360 PASS - - - - - Del - D 234754079 234754083 2 15 322.668 - - 1 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 2 4 9 8 28 20 28 20 9 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2748997439 10 12711249 C CAA 567 PASS CAMK1D CCDS7091.1 r.? - - Ins intronic I 12711249 12711250 2 36 580.4 - - 0 1 1 CAMK1D|CCDS7091.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CAMK1D|CCDS7091.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 6 10 6 0 0 ./. 8 3 0 0 35 26 36 28 8 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749002368 10 26381404 AG A 297 PASS MYO3A CCDS7148.1 r.? - - Del intronic D 26381404 26381406 1 12 269.839 - - 1 1 1 MYO3A|CCDS7148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO3A|CCDS7148.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 2 3 3 3 29 18 29 18 3 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749005567 10 34056598 GATTT G 898 PASS - - - - - Del - D 34056598 34056603 4 72 861.075 - - 1 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 5 11 6 14 16 33 16 33 6 14 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749006644 10 37492593 G GTAT 537 PASS ANKRD30A CCDS7193.1 r.? - - Ins intronic I 37492593 37492598 3 36 573.777 - - 1 1 1 ANKRD30A|CCDS7193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANKRD30A|CCDS7193.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 8 9 11 28 28 28 30 9 11 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749015958 10 67471422 GACCTGACAGAT G 319 PASS - - - - - Del - D 67471422 67471436 11 42 593.645 - - 1 1 1 - - ./. 0 0 0 0 15 9 15 9 0 0 ./. 5 6 7 9 19 26 19 26 7 9 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749024888 10 93915623 A AT 300 PASS CPEB3 CCDS31246.1 r.? - - Ins intronic I 93915623 93915631 1 12 266.226 - - 7 1 1 CPEB3|CCDS31246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CPEB3|CCDS31246.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 14 7 14 0 0 ./. 2 3 3 5 15 19 15 19 3 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749026431 10 98633899 ACT A 720 PASS LCOR CCDS7451.1 r.? - - Del intronic D 98633899 98633904 2 49 647.613 - - 2 1 1 LCOR|CCDS7451.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 LCOR|CCDS7451.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 6 6 8 8 27 25 27 25 8 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749027541 10 101730401 G GCC 660 PASS DNMBP CCDS7485.1 r.? - - Ins intronic I 101730401 101730403 2 42 579.196 - - 1 1 1 DNMBP|CCDS7485.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DNMBP|CCDS7485.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 5 7 6 0 0 ./. 5 6 10 6 24 31 24 31 10 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749028325 10 103876289 TAC T 300 PASS LDB1 CCDS7528.1 r.? - - Del upstream D 103876289 103876303 2 12 268.635 - - 6 1 1 LDB1|CCDS7528.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 LDB1|CCDS44472.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 3 2 26 28 26 28 3 2 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749034868 10 127581417 GT G 563 PASS FANK1 CCDS31309.1 r.? - - Del upstream D 127581417 127581420 1 50 701.581 - - 2 1 1 FANK1|CCDS31309.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 DHX32|ENST00000415732|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 108 116 108 116 0 0 ./. 4 9 6 15 187 282 187 282 6 15 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749045898 11 24547574 AC A 1078 PASS LUZP2 CCDS31446.1 r.? - - Del intronic D 24547574 24547576 1 90 1027.7 - - 1 1 1 LUZP2|CCDS31446.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LUZP2|CCDS31446.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 9 6 9 0 0 ./. 5 14 6 14 18 36 18 36 6 14 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749078757 12 3179050 TCA T 360 PASS - - - - - Del - D 3179050 3179070 2 16 322.474 - - 9 1 - - - ./. 0 0 0 0 6 11 6 11 0 0 ./. 3 3 4 3 30 20 30 20 4 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749084998 12 19876157 T TA 569 PASS - - - - - Ins - I 19876157 19876164 1 32 520.598 - - 6 1 - - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 7 8 13 33 27 34 27 8 13 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749085068 12 20007550 T TC 269 PASS - - - - - Ins - I 20007550 20007551 1 12 267.223 - - 0 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 2 3 2 3 26 22 26 22 2 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749090484 12 34489994 AC A 660 PASS - - - - - Del - D 34489994 34489996 1 40 593.309 - - 1 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 7 4 7 9 26 27 26 27 7 9 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749105921 12 87083287 T TA 360 PASS - - - - - Ins - I 87083287 87083288 1 16 320.667 - - 0 1 1 - - ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 3 5 7 23 21 23 21 5 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749106334 12 88392012 ATGATAAG A 290 PASS C12orf50 CCDS9031.1 r.? - - Del intronic D 88392012 88392021 7 20 540.466 - - 1 1 1 C12orf50|CCDS9031.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C12orf50|CCDS9031.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 1 9 1 10 14 26 14 26 1 10 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749118439 12 123115540 C CTTTA 300 PASS KNTC1 CCDS45002.1 r.? - - Ins downstream I 123115540 123115568 4 12 258.192 - - 6 1 - KNTC1|CCDS45002.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 GPR81|CCDS9236.1|r.?|-|-|protein_coding:three_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 3 2 3 8 27 35 27 35 3 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749127092 13 28558193 G GT 780 PASS PRHOXNB CCDS45020.1 r.? - - Ins intronic I 28558193 28558202 1 54 694.745 - - 8 1 1 PRHOXNB|CCDS45020.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRHOXNB|CCDS45020.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 7 13 0 0 ./. 5 8 8 12 29 44 30 44 8 12 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749136517 13 56712461 GC G 600 PASS - - - - - Del - D 56712461 56712470 1 32 540.625 - - 8 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 7 6 10 21 21 21 21 6 10 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749137962 13 61328872 CCTGTTTATATTTA C 319 PASS - - - - - Del - D 61328872 61328888 13 42 596.012 - - 1 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 5 5 5 20 22 21 22 6 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749139413 13 65963946 G GTTTTA 540 PASS - - - - - Ins - I 65963946 65963971 5 30 460.554 - - 4 1 - - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 4 5 8 7 36 25 39 25 8 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749153687 13 108321292 T TA 869 PASS FAM155A CCDS32006.1 r.? - - Ins intronic I 108321292 108321301 1 72 803.713 - - 8 1 1 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM155A|CCDS32006.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 6 7 7 0 0 ./. 8 7 10 11 29 34 29 34 10 11 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749165484 14 47890488 AT A 480 PASS MDGA2 CCDS45098.1 r.? - - Del intronic D 47890488 47890492 1 25 433.614 - - 3 1 1 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MDGA2|CCDS45098.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 4 4 5 6 13 20 13 20 5 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749168848 14 57199185 C CT 840 PASS - - - - - Ins - I 57199185 57199192 1 64 750.848 - - 6 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 7 7 11 8 27 30 27 33 11 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749171620 14 67547979 AC A 480 PASS GPHN CCDS9777.1 r.? - - Del intronic D 67547979 67547982 1 9 434.217 - - 2 1 1 GPHN|CCDS9777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GPHN|CCDS9777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 8 0 9 3 17 14 17 14 9 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749188951 15 35547708 G GT 300 PASS - - - - - Ins - I 35547708 35547718 1 6 266.07 - - 9 1 1 - - ./. 0 0 0 0 16 14 16 14 0 0 ./. 5 0 5 0 28 30 28 31 5 0 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749189411 15 37013971 TTC T 360 PASS C15orf41 CCDS45216.1 r.? - - Del intronic D 37013971 37013991 2 12 324.462 - - 9 1 - C15orf41|CCDS45216.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C15orf41|CCDS45216.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 1 5 1 4 23 40 23 40 1 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749192796 15 45946322 A AAC 300 PASS SQRDL CCDS10127.1 r.? - - Ins intronic I 45946322 45946324 2 6 264.866 - - 0 1 1 SQRDL|CCDS10127.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SQRDL|CCDS10127.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 0 1 0 35 29 35 31 6 0 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749195024 15 52529154 A AT 509 PASS MYO5C CCDS42036.1 r.? - - Ins intronic I 52529154 52529162 1 30 481.576 - - 7 1 1 MYO5C|CCDS42036.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYO5C|CCDS42036.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 5 4 7 24 36 26 36 4 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749200499 15 65309442 A AT 720 PASS MTFMT CCDS45280.1 r.? - - Ins intronic I 65309442 65309443 1 40 636.281 - - 0 1 1 MTFMT|CCDS45280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MTFMT|CCDS45280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 9 3 11 4 39 21 40 21 11 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749205470 15 77798427 A AC 300 PASS - - - - - Ins - I 77798427 77798428 1 10 265.468 - - 0 1 1 - - ./. 0 0 0 0 12 10 12 11 0 0 ./. 4 1 5 1 38 32 38 32 5 1 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749211257 15 93537764 C CA 480 PASS CHD2 CCDS10374.2 r.? - - Ins intronic I 93537764 93537769 1 16 428.602 - - 4 1 1 CHD2|CCDS10374.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CHD2|CCDS10374.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 2 16 2 0 0 ./. 7 1 9 2 41 16 41 16 9 2 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749218140 16 8124238 G GAT 298 PASS - - - - - Ins - I 8124238 8124239 2 15 317.979 - - 0 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 4 2 0 0 32 21 32 21 4 2 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749231420 16 51241810 TATCC T 360 PASS - - - - - Del - D 51241810 51241840 4 12 325.204 - - 7 1 - - - ./. 0 0 0 0 4 11 4 11 0 0 ./. 1 5 5 6 18 24 18 24 5 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749231447 16 51346829 A AT 300 PASS - - - - - Ins - I 51346829 51346839 1 12 266.186 - - 9 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 2 3 2 3 26 33 28 33 2 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749234382 16 59694290 TG T 480 PASS - - - - - Del - D 59694290 59694296 1 16 433.605 - - 5 1 1 - - ./. 0 0 0 0 5 11 5 11 0 0 ./. 7 1 10 3 25 16 25 16 10 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749259095 17 40761531 GATCCGGAGGCGCCGAGCCGC G 261 PASS FAM134C CCDS11432.1 r.? - - Del upstream D 40761531 40761560 20 24 486.386 - - 1 1 1 FAM134C|CCDS11432.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 FAM134C|CCDS11432.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 12 13 12 13 0 0 ./. 7 2 8 2 27 18 27 18 8 2 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749261527 17 46909471 CTGACTAGGCGCGG C 348 PASS CALCOCO2 CCDS11538.1 r.? - - Del intronic D 46909471 46909487 13 49 641.491 - - 1 1 1 CALCOCO2|CCDS11538.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CALCOCO2|CCDS11538.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 6 6 6 6 19 19 19 19 6 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749265970 17 57221619 A AT 300 PASS SKA2 CCDS45747.1 r.? - - Ins intronic I 57221619 57221620 1 12 266.937 - - 0 1 1 SKA2|CCDS45747.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SKA2|CCDS45747.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 4 9 4 0 0 ./. 3 2 3 3 34 38 35 39 3 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749268169 17 61432935 CT C 480 PASS TANC2 CCDS45754.1 r.? - - Del intronic D 61432935 61432938 1 24 432.878 - - 2 1 1 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TANC2|CCDS45754.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 3 5 4 6 46 50 46 50 4 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749269657 17 64392741 T TTA 269 PASS PRKCA CCDS11664.1 r.? - - Ins intronic I 64392741 64392743 2 6 263.324 - - 0 1 1 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 5 0 10 10 36 45 37 46 11 10 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749270409 17 65693389 C CCT 360 PASS PITPNC1 ENST00000423236 r.? - - Ins downstream I 65693389 65693405 2 15 317.434 - - 7 1 - PITPNC1|ENST00000423236|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 PITPNC1|ENST00000423236|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 12 12 12 12 0 0 ./. 2 4 2 1 32 46 34 46 4 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749271691 17 68133719 CCT C 300 PASS KCNJ16 CCDS11687.1 r.? - - Del downstream D 68133719 68133735 2 12 270.549 - - 7 1 1 KCNJ16|CCDS11687.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 KCNJ16|CCDS11687.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 3 3 3 43 44 43 44 3 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749271867 17 68559105 G GT 300 PASS - - - - - Ins - I 68559105 68559115 1 12 266.937 - - 9 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 2 3 4 3 59 39 60 40 4 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749278050 17 80449091 T TGAG 1080 PASS NARF CCDS42404.1 r.? - - Ins downstream I 80449091 80449115 3 75 934.842 - - 7 1 - NARF|CCDS42404.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 NARF|CCDS42404.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 14 11 19 54 65 54 65 11 19 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749287780 18 28014500 CA C 689 PASS - - - - - Del - D 28014500 28014504 1 45 641.726 - - 3 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 8 6 9 23 17 23 17 6 9 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749290426 18 37464656 AC A 600 PASS - - - - - Del - D 37464656 37464658 1 27 540.993 - - 1 1 1 - - ./. 0 0 0 0 7 13 7 13 0 0 ./. 2 8 3 8 17 28 17 28 3 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749295127 18 53536981 AAGATTTTCACAT A 435 PASS - - - - - Del - D 53536981 53536998 12 70 813.596 - - 1 1 1 - - ./. 0 0 0 0 13 14 13 14 0 0 ./. 9 6 9 7 16 27 16 27 9 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749312076 19 19151048 C CT 540 PASS ARMC6 CCDS32965.1 r.? - - Ins intronic I 19151048 19151050 1 28 482.804 - - 1 1 1 ARMC6|CCDS32965.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ARMC6|CCDS32965.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 12 8 12 0 0 ./. 3 6 7 7 23 22 23 22 7 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749313766 19 22475743 GC G 900 PASS - - - - - Del - D 22475743 22475746 1 60 812.5 - - 2 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 11 4 12 5 35 27 35 27 12 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749319472 19 40700352 ATGTTG A 654 PASS MAP3K10 CCDS12549.1 r.? - - Del intronic D 40700352 40700358 5 60 759.458 - - 1 1 1 MAP3K10|CCDS12549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAP3K10|CCDS12549.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 9 8 9 0 0 ./. 5 9 8 13 19 40 19 40 8 13 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749325441 19 54444327 AAG A 509 PASS CACNG7 CCDS12868.1 r.? - - Del intronic D 54444327 54444335 2 24 482.804 - - 3 1 1 CACNG7|CCDS12868.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNG7|CCDS12868.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 7 2 8 18 27 18 27 2 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749329244 2 5575156 TATAAAAAGCAACC T 435 PASS - - - - - Del - D 5575156 5575171 13 60 807.051 - - 1 1 1 - - ./. 0 0 0 0 6 5 6 5 0 0 ./. 11 4 11 5 30 25 30 25 11 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749330972 2 10897447 CTT C 598 PASS ATP6V1C2 CCDS1674.1 r.? - - Del intronic D 10897447 10897451 2 40 589.43 - - 3 1 1 ATP6V1C2|CCDS1674.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP6V1C2|CCDS1674.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 10 14 10 0 0 ./. 4 7 6 10 26 23 26 23 6 10 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749331574 2 12519283 CA C 449 PASS - - - - - Del - D 12519283 12519291 1 25 430.427 - - 7 1 1 - - ./. 0 0 0 0 11 9 11 9 0 0 ./. 4 4 5 7 24 24 24 24 5 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749334585 2 22823556 C CT 420 PASS - - - - - Ins - I 22823556 22823565 1 20 372.41 - - 8 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 3 4 4 7 27 21 27 21 4 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749342754 2 46174277 T TA 480 PASS PRKCE CCDS1824.1 r.? - - Ins intronic I 46174277 46174284 1 24 425.611 - - 6 1 1 PRKCE|CCDS1824.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKCE|CCDS1824.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 5 5 6 28 19 28 19 5 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749348772 2 65380357 A AT 300 PASS - - - - - Ins - I 65380357 65380358 1 10 262.997 - - 0 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 4 1 4 3 24 25 24 25 4 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749350167 2 69740199 A AT 420 PASS AAK1 CCDS1893.2 r.? - - Ins intronic I 69740199 69740207 1 18 371.808 - - 7 1 1 AAK1|CCDS1893.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AAK1|CCDS1893.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 10 3 10 0 0 ./. 2 5 7 6 24 28 24 29 7 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749359696 2 103139076 GCA G 300 PASS SLC9A4 CCDS33264.1 r.? - - Del intronic D 103139076 103139094 2 12 268.415 - - 8 1 1 SLC9A4|CCDS33264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC9A4|CCDS33264.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 3 2 3 49 17 49 17 2 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749361174 2 108711211 TA T 780 PASS - - - - - Del - D 108711211 108711214 1 50 698.843 - - 2 1 1 - - ./. 0 0 0 0 9 7 9 7 0 0 ./. 4 9 4 10 20 22 20 22 4 10 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749367997 2 131928592 G GGATTA 360 PASS PLEKHB2 ENST00000404460 r.? - - Ins intronic I 131928592 131928598 5 15 304.759 - - 1 1 1 PLEKHB2|ENST00000404460|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLEKHB2|ENST00000404460|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 16 5 17 0 0 ./. 2 4 2 5 15 22 15 22 2 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749381077 2 173168464 CTT C 600 PASS - - - - - Del - D 173168464 173168468 2 20 538.034 - - 3 1 1 - - ./. 0 0 0 0 7 11 7 11 0 0 ./. 9 1 11 3 25 23 25 23 11 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749382071 2 176406454 GT G 600 PASS - - - - - Del - D 176406454 176406464 1 35 538.034 - - 9 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 4 6 9 11 31 32 31 32 9 11 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749391419 2 206311171 TA T 900 PASS PARD3B CCDS42806.1 r.? - - Del intronic D 206311171 206311175 1 70 807.052 - - 3 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 15 11 15 0 0 ./. 6 9 6 10 30 24 30 24 6 10 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749398926 2 228406708 C CTGTT 285 PASS AGFG1 CCDS46533.1 r.? - - Ins intronic I 228406708 228406712 4 27 510.942 - - 0 1 1 AGFG1|CCDS46533.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 AGFG1|CCDS46533.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 8 2 8 4 32 24 32 24 8 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749403774 20 497352 C CTT 749 PASS CSNK2A1P CCDS13003.1 r.? - - Ins intronic I 497352 497355 2 54 689.906 - - 2 1 1 CSNK2A1P|CCDS13003.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CSNK2A1P|CCDS13003.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 7 6 7 0 0 ./. 8 5 10 6 30 22 32 22 10 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749407085 20 9406758 G GA 300 PASS PLCB4 CCDS13104.1 r.? - - Ins intronic I 9406758 9406768 1 12 267.386 - - 9 1 1 PLCB4|CCDS13104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PLCB4|CCDS13104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 2 3 2 4 30 25 30 25 2 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749409646 20 17418636 CCA C 325 PASS PCSK2 CCDS13125.1 r.? - - Del intronic D 17418636 17418640 2 21 414.091 - - 1 1 1 PCSK2|CCDS13125.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCSK2|CCDS13125.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 6 6 6 0 0 ./. 2 6 0 0 18 24 18 24 2 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749420801 20 48791746 C CCT 449 PASS - - - - - Ins - I 48791746 48791747 2 9 424.326 - - 0 1 - - - ./. 0 0 0 0 13 3 13 3 0 0 ./. 0 8 4 1 32 29 32 29 4 9 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749425069 20 59466402 TTG T 360 PASS - - - - - Del - D 59466402 59466422 2 15 325.921 - - 9 1 - - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 2 4 3 2 32 29 32 29 3 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749438978 21 37577503 GCGG GC 596 PASS DOPEY2 CCDS13643.1 r.? - - Complex intronic DI 37577504 37577506 3 49 0 - - 0 1 1 DOPEY2|CCDS13643.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 DOPEY2|CCDS13643.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 6 6 0 0 24 39 24 39 6 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749439083 21 37809466 T TG 778 PASS - - - - - Ins - I 37809466 37809470 1 55 751.458 - - 3 1 1 - - ./. 0 0 0 0 13 13 13 13 0 0 ./. 4 10 9 12 20 28 20 28 9 12 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749447697 22 28948123 C CA 420 PASS TTC28 CCDS46678.1 r.? - - Ins intronic I 28948123 28948132 1 20 377.776 - - 8 1 1 TTC28|CCDS46678.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TTC28|CCDS46678.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 4 3 8 4 20 19 21 19 8 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749448420 22 30795595 C CG 480 PASS SEC14L2 CCDS13876.1 r.? - - Ins intronic I 30795595 30795599 1 24 430.539 - - 3 1 1 SEC14L2|CCDS13876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SEC14L2|CCDS13876.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 6 14 6 0 0 ./. 5 3 6 4 34 21 34 21 6 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749455203 22 48111402 C CCT 269 PASS - - - - - Ins - I 48111402 48111403 2 10 260.207 - - 0 1 - - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 1 4 2 0 21 25 22 25 3 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749456839 3 1636985 CA C 540 PASS - - - - - Del - D 1636985 1636987 1 30 485.116 - - 1 1 1 - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 5 4 6 8 23 24 23 24 6 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749463706 3 21949610 A ATATCTATATATCTTTCTCTCTATATC 300 PASS - - - - - Ins - I 21949610 21949618 26 12 191.241 - - 0 1 - - - ./. 0 0 0 0 10 5 10 5 0 0 ./. 3 2 0 0 27 20 27 20 3 2 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749466319 3 31050284 AGAC A 989 PASS - - - - - Del - D 31050284 31050288 3 90 916.33 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 9 8 12 9 28 23 28 23 12 9 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749467508 3 34128212 G GA 269 PASS - - - - - Ins - I 34128212 34128222 1 10 265.896 - - 9 1 1 - - ./. 0 0 0 0 7 17 7 17 0 0 ./. 4 1 4 1 47 29 47 29 4 1 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749468867 3 39513703 C CA 660 PASS MOBP CCDS2687.1 r.? - - Ins intronic I 39513703 39513707 1 40 583.888 - - 3 1 1 MOBP|CCDS2687.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MOBP|CCDS2687.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 10 9 10 0 0 ./. 7 4 7 6 25 24 26 24 7 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749471708 3 48353625 A AG 300 PASS SPINK8 CCDS46822.1 r.? - - Ins intronic I 48353625 48353626 1 12 259.876 - - 0 1 1 SPINK8|CCDS46822.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPINK8|CCDS46822.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 9 4 9 0 0 ./. 2 3 2 4 23 30 23 31 2 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749477444 3 65530978 AAG A 269 PASS MAGI1 CCDS33781.1 r.? - - Del intronic D 65530978 65530996 2 12 268.305 - - 8 1 1 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAGI1|CCDS33781.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 2 3 2 3 20 28 20 28 2 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749478188 3 67888610 G GA 660 PASS - - - - - Ins - I 67888610 67888616 1 42 585.694 - - 5 1 1 - - ./. 0 0 0 0 8 8 8 8 0 0 ./. 5 6 6 10 18 24 18 24 6 10 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749495562 3 124635973 GTC G 360 PASS MUC13 CCDS33839.1 r.? - - Del intronic D 124635973 124635993 2 16 321.604 - - 9 1 1 MUC13|CCDS33839.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MUC13|CCDS33839.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 14 10 14 0 0 ./. 3 3 3 3 30 23 30 23 3 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749502280 3 146089169 G GT 660 PASS - - - - - Ins - I 146089169 146089179 1 42 586.296 - - 9 1 1 - - ./. 0 0 0 0 8 12 8 12 0 0 ./. 5 6 9 10 28 35 28 35 9 10 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749503315 3 149896893 C CAT 420 PASS - - - - - Ins - I 149896893 149896911 2 20 368.883 - - 8 1 1 - - ./. 0 0 0 0 4 7 4 7 0 0 ./. 3 4 4 5 10 19 10 19 4 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749503827 3 151487671 C CA 757 PASS - - - - - Ins - I 151487671 151487677 1 56 692.294 - - 5 1 1 - - ./. 0 0 0 0 13 19 13 19 0 0 ./. 6 7 8 9 23 26 23 26 8 9 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749514279 3 184234210 T TA 809 PASS EIF2B5 ENST00000444495 r.? - - Ins intronic I 184234210 184234214 1 64 744.991 - - 3 1 1 EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EIF2B5|ENST00000444495|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 8 15 8 0 0 ./. 7 7 9 8 27 25 28 26 9 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749527809 4 26339717 G GT 300 PASS RBPJ CCDS33969.1 r.? - - Ins intronic I 26339717 26339727 1 10 260.409 - - 9 1 1 RBPJ|CCDS33969.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 RBPJ|CCDS33969.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 14 13 14 0 0 ./. 1 4 0 3 27 31 27 31 1 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749530186 4 34010388 CTT C 687 PASS - - - - - Del - D 34010388 34010394 2 54 700.543 - - 5 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 8 5 9 8 24 27 24 27 9 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749535645 4 49305113 GC G 259 PASS - - - - - Del - D 49305113 49305115 1 8 377.216 - - 1 1 1 - - ./. 0 0 0 0 0 12 0 12 0 0 ./. 0 7 0 8 1 50 1 50 0 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749537341 4 56885380 GTTCA G 598 PASS CEP135 CCDS33986.1 r.? - - Del intronic D 56885380 56885386 4 30 592.166 - - 1 1 1 CEP135|CCDS33986.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CEP135|CCDS33986.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 12 16 12 0 0 ./. 2 9 4 11 30 23 30 23 4 11 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749540621 4 66361950 C CT 532 PASS EPHA5 CCDS3513.1 r.? - - Ins intronic I 66361950 66361960 1 54 689.706 - - 9 1 1 EPHA5|CCDS3513.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EPHA5|CCDS3513.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 8 5 11 7 29 22 29 23 11 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749544481 4 77721200 G GAGGAAGGA 348 PASS - - - - - Ins - I 77721200 77721213 8 49 586.449 - - 3 1 - - - ./. 0 0 0 0 8 6 8 6 0 0 ./. 6 6 6 6 33 43 33 43 6 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749547217 4 86680373 A ATAAT 598 PASS ARHGAP24 CCDS34025.1 r.? - - Ins intronic I 86680373 86680378 4 36 566.277 - - 1 1 1 ARHGAP24|CCDS34025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP24|CCDS34025.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 9 17 9 0 0 ./. 8 3 9 5 25 23 25 24 9 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749548148 4 89256248 CA C 480 PASS - - - - - Del - D 89256248 89256250 1 24 431.104 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 3 7 4 18 23 18 23 7 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749564210 4 142329296 A AT 420 PASS - - - - - Ins - I 142329296 142329305 1 20 373.001 - - 8 1 1 - - ./. 0 0 0 0 5 6 5 6 0 0 ./. 4 3 4 7 24 25 25 25 4 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749568370 4 155735995 C CT 300 PASS RBM46 CCDS3790.1 r.? - - Ins intronic I 155735995 155736004 1 12 265.827 - - 8 1 1 RBM46|CCDS3790.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBM46|CCDS3790.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 7 8 7 0 0 ./. 2 3 4 4 17 16 17 16 4 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749576209 4 178693983 GC G 780 PASS ENSG00000231171 ENST00000507870 r.? - - Del intronic D 178693983 178693986 1 56 700.543 - - 2 1 1 ENSG00000231171|ENST00000507870|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ENSG00000231171|ENST00000507870|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 6 7 7 11 29 28 29 28 7 11 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749591010 5 25766871 CA C 720 PASS - - - - - Del - D 25766871 25766875 1 45 647.415 - - 3 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 4 8 4 11 15 32 15 32 4 11 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749594525 5 35008058 TTC T 360 PASS AGXT2 CCDS3908.1 r.? - - Del intronic D 35008058 35008077 2 16 323.708 - - 9 1 - AGXT2|CCDS3908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGXT2|CCDS3908.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 3 3 3 3 25 32 25 32 3 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749596394 5 40734325 TC T 480 PASS TTC33 CCDS3931.1 r.? - - Del intronic D 40734325 40734328 1 16 429.804 - - 2 1 1 TTC33|CCDS3931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC33|CCDS3931.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 7 1 7 6 21 22 21 22 7 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749597635 5 46021790 CAGTTTGGA C 348 PASS - - - - - Del - D 46021790 46021799 8 45 647.415 - - 1 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 4 8 7 7 30 26 30 27 7 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749599329 5 54425596 CA C 749 PASS CDC20B CCDS3966.1 r.? - - Del intronic D 54425596 54425600 1 50 701.367 - - 3 1 1 CDC20B|CCDS3966.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CDC20B|CCDS3966.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 4 9 9 9 30 35 30 35 9 9 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749601036 5 59360004 TAA T 600 PASS PDE4D CCDS47032.1 r.? - - Del intronic D 59360004 59360009 2 36 539.513 - - 4 1 1 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE4D|CCDS47032.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 5 5 6 17 23 17 23 5 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749604770 5 73129759 TG T 420 PASS ENSG00000214944 CCDS47231.1 r.? - - Del intronic D 73129759 73129763 1 18 377.659 - - 3 1 1 ENSG00000214944|CCDS47231.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000214944|CCDS47231.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 5 2 8 8 24 21 24 21 8 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749609237 5 86501135 GAC G 300 PASS - - - - - Del - D 86501135 86501153 2 12 269.756 - - 8 1 1 - - ./. 0 0 0 0 7 7 7 7 0 0 ./. 3 2 3 3 32 28 32 28 3 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749628482 5 154225518 G GTA 480 PASS C5orf4 CCDS43390.1 r.? - - Ins intronic I 154225518 154225536 2 16 421.977 - - 8 1 1 C5orf4|CCDS43390.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C5orf4|CCDS43390.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 5 6 5 0 0 ./. 7 1 10 5 24 17 24 17 10 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749639124 6 1827515 A ATGTATATACACACGTTTTAGAAAACCTGTATATACACACGTTTTGGAAAACC 262 PASS GMDS CCDS4474.1 r.? - - Ins intronic I 1827515 1827529 52 12 135.062 - - 0 1 1 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GMDS|CCDS4474.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 7 12 7 0 0 ./. 5 1 0 0 25 29 29 30 5 1 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749640424 6 5461199 CTG C 420 PASS FARS2 CCDS4494.1 r.? - - Del intronic D 5461199 5461219 2 20 378.127 - - 9 1 - FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FARS2|CCDS4494.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 3 4 3 29 32 29 32 4 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749645927 6 20180774 GT G 720 PASS LPCAT3 CCDS34346.1 r.? - - Del intronic D 20180774 20180776 1 49 645.208 - - 1 1 1 LPCAT3|CCDS34346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LPCAT3|CCDS34346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 11 9 11 0 0 ./. 6 6 9 6 35 26 35 26 9 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749682368 6 150076554 CT C 629 PASS PCMT1 CCDS5219.1 r.? - - Del intronic D 150076554 150076558 1 42 591.792 - - 3 1 1 PCMT1|CCDS5219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCMT1|CCDS5219.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 6 5 11 7 14 12 14 12 11 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749684150 6 156463885 TG T 360 PASS - - - - - Del - D 156463885 156463887 1 12 324.109 - - 1 1 1 - - ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 1 7 2 14 7 14 7 7 2 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749690922 7 7201710 C CT 282 PASS C1GALT1 ENST00000429911 r.? - - Ins intronic I 7201710 7201720 1 10 261.99 - - 9 1 1 C1GALT1|ENST00000429911|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 C1GALT1|ENST00000429911|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 3 11 3 11 0 0 ./. 1 4 2 8 14 20 14 20 2 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749692348 7 11365923 AC A 300 PASS - - - - - Del - D 11365923 11365926 1 12 267.409 - - 2 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 3 5 5 14 19 14 19 5 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749697218 7 26592871 GA G 600 PASS - - - - - Del - D 26592871 26592876 1 35 539.634 - - 4 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 4 6 6 12 18 29 18 29 6 12 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749700404 7 36466410 G GT 540 PASS ANLN CCDS5447.1 r.? - - Ins intronic I 36466410 36466420 1 28 471.823 - - 9 1 1 ANLN|CCDS5447.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ANLN|CCDS5447.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 3 6 7 12 26 23 27 23 7 12 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749725883 7 111955294 AATTTTATTCTT A 435 PASS ZNF277 CCDS5755.2 r.? - - Del intronic D 111955294 111955307 11 72 808.247 - - 1 1 1 ZNF277|CCDS5755.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNF277|CCDS5755.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 7 8 5 9 22 24 24 24 7 9 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749730416 7 128038821 TC T 420 PASS IMPDH1 CCDS34749.1 r.? - - Del intronic D 128038821 128038824 1 20 375.938 - - 2 1 1 IMPDH1|CCDS34749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IMPDH1|CCDS34749.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 7 10 7 0 0 ./. 4 3 7 3 19 28 19 28 7 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749749854 8 27507515 G GT 300 PASS SCARA3 CCDS34871.1 r.? - - Ins intronic I 27507515 27507525 1 12 265.822 - - 9 1 1 SCARA3|CCDS34871.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCARA3|CCDS34871.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 11 15 11 0 0 ./. 3 2 3 2 15 15 15 15 3 2 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749768583 8 95241105 AT A 300 PASS - - - - - Del - D 95241105 95241109 1 12 269.434 - - 3 1 1 - - ./. 0 0 0 0 3 8 3 8 0 0 ./. 2 3 3 6 42 44 42 44 3 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749769575 8 97321115 G GT 300 PASS PTDSS1 CCDS6271.1 r.? - - Ins intronic I 97321115 97321124 1 6 266.424 - - 8 1 1 PTDSS1|CCDS6271.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTDSS1|CCDS6271.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 5 0 5 0 35 39 35 39 5 0 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749770328 8 99095834 GCA G 329 PASS C8orf47 CCDS34929.1 r.? - - Del intronic D 99095834 99095850 2 12 324.043 - - 7 1 1 C8orf47|CCDS34929.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C8orf47|CCDS34929.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 5 1 5 1 75 44 75 44 5 1 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749770346 8 99120004 A AAT 629 PASS HRSP12 CCDS6276.1 r.? - - Ins intronic I 99120004 99120005 2 42 580.834 - - 0 1 1 HRSP12|CCDS6276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HRSP12|CCDS6276.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 6 8 6 8 0 0 ./. 6 5 2 0 53 40 53 41 8 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749772847 8 105177715 G GT 300 PASS RIMS2 ENST00000507740 r.? - - Ins intronic I 105177715 105177725 1 10 265.822 - - 9 1 1 RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RIMS2|ENST00000507740|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 8 10 8 0 0 ./. 4 1 4 1 48 50 49 50 4 1 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749776364 8 114602477 C CGTATATGTACATATACATATGTGTACACATATACGTATATGTGTAT 360 PASS - - - - - Ins - I 114602477 114602488 46 15 157.875 - - 0 1 - - - ./. 0 0 0 0 13 11 13 11 0 0 ./. 2 4 0 0 46 72 47 72 2 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749780478 8 124620780 G GTAT 687 PASS - - - - - Ins - I 124620780 124620785 3 54 678.614 - - 1 1 1 - - ./. 0 0 0 0 15 15 15 15 0 0 ./. 5 8 7 8 42 40 42 40 7 8 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749784863 8 136680650 G GAAAGGAAAGAAAGAAAGAAAGAAA 476 PASS - - - - - Ins - I 136680650 136680651 24 96 706.622 - - 0 1 - - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 11 7 0 0 38 36 39 38 11 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749788019 8 146075639 AG A 869 PASS COMMD5 CCDS6436.1 r.1370delC c.? p.? Del 3'UTR variant D 146075639 146075643 1 70 808.904 - - 3 1 1 COMMD5|CCDS6436.1|r.1370delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 COMMD5|CCDS6436.1|r.1370delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 9 11 9 11 0 0 ./. 9 6 12 9 43 23 43 23 12 9 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749791276 9 10057862 C CCA 420 PASS PTPRD CCDS43786.1 r.? - - Ins intronic I 10057862 10057863 2 20 357.048 - - 0 1 - PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 PTPRD|CCDS43786.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 4 12 4 0 0 ./. 3 4 0 0 24 18 24 18 3 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749793919 9 18120451 T TG 540 PASS - - - - - Ins - I 18120451 18120459 1 30 480.305 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 10 0 0 ./. 5 4 6 5 29 28 29 29 6 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749798462 9 32910134 CA C 300 PASS - - - - - Del - D 32910134 32910137 1 10 270.516 - - 2 1 1 - - ./. 0 0 0 0 11 5 11 5 0 0 ./. 4 1 6 3 25 18 25 18 6 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749799883 9 36253290 TA T 269 PASS GNE CCDS47965.1 r.? - - Del intronic D 36253290 36253295 1 12 266.903 - - 4 1 1 GNE|CCDS47965.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GNE|CCDS47965.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 2 3 3 3 20 26 20 26 3 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749802215 9 66484532 TG T 507 PASS - - - - - Del - D 66484532 66484536 1 88 919.151 - - 3 1 1 - - ./. 0 0 0 0 43 43 43 43 0 0 ./. 7 10 10 10 109 156 109 156 10 10 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749803673 9 68484586 GA G 485 PASS - - - - - Del - D 68484586 68484588 1 150 1244.37 - - 1 1 1 - - ./. 0 0 0 0 112 81 112 81 0 0 ./. 9 14 9 15 256 292 256 292 9 15 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749805066 9 72049654 AT A 553 PASS APBA1 CCDS6630.1 r.? - - Del intronic D 72049654 72049662 1 40 593.93 - - 7 1 1 APBA1|CCDS6630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APBA1|CCDS6630.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 8 11 8 0 0 ./. 7 4 9 7 23 17 23 17 9 7 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749830779 X 13949010 G GA 300 PASS GPM6B CCDS48084.1 r.? - - Ins intronic I 13949010 13949020 1 12 265.874 - - 9 1 1 GPM6B|CCDS48084.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GPM6B|CCDS48084.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 2 3 2 3 38 29 38 30 2 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749833421 X 24676210 GGGCC G 896 PASS PCYT1B ENST00000379145 r.? - - Del intronic D 24676210 24676215 4 90 919.143 - - 1 1 1 PCYT1B|ENST00000379145|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PCYT1B|ENST00000379145|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 13 9 13 0 0 ./. 8 9 14 10 41 31 41 31 14 10 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749835631 X 34298832 CA C 360 PASS - - - - - Del - D 34298832 34298839 1 15 323.022 - - 6 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 2 4 5 6 18 23 18 23 5 6 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749838852 X 48152350 CA C 583 PASS SSX9 ENST00000407081 r.? - - Del downstream D 48152350 48152358 1 30 588.294 - - 7 1 1 SSX9|ENST00000407081|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SSX9|ENST00000407081|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 8 11 8 11 0 0 ./. 2 9 2 14 26 30 26 30 2 14 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749840869 X 57951549 G GT 600 PASS - - - - - Ins - I 57951549 57951556 1 27 535.36 - - 6 1 1 - - ./. 0 0 0 0 4 10 4 10 0 0 ./. 2 8 5 9 21 29 21 30 5 9 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749840988 X 61722976 TA T 311 PASS - - - - - Del - D 61722976 61722978 1 20 1028.62 - - 1 1 1 - - ./. 0 0 0 0 33 8 33 8 0 0 ./. 19 0 1 1 66 55 85 55 20 1 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749844701 X 78920272 A AT 389 PASS - - - - - Ins - I 78920272 78920279 1 20 373.548 - - 6 1 1 - - ./. 0 0 0 0 9 12 9 12 0 0 ./. 3 4 5 5 22 26 22 26 5 5 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749845518 X 82321016 TA T 989 PASS - - - - - Del - D 82321016 82321019 1 90 916.133 - - 2 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 9 8 14 13 34 25 34 25 14 13 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749847662 X 90596174 AC A 540 PASS - - - - - Del - D 90596174 90596180 1 28 487.242 - - 5 1 1 - - ./. 0 0 0 0 6 9 6 9 0 0 ./. 6 3 8 4 24 16 24 16 8 4 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749857288 X 132238225 C CA 300 PASS - - - - - Ins - I 132238225 132238235 1 12 266.476 - - 9 1 1 - - ./. 0 0 0 0 7 9 7 9 0 0 ./. 2 3 2 3 25 25 25 25 2 3 1 1 1 1 1 1 1 1 2731452 PD20400a PD20400b 2749860695 X 146336925 CTTAA CATT 776 PASS MIR509-2 ENST00000390724 r.? - - Complex downstream DI 146336926 146336929 4 70 0 - - 0 1 1 MIR509-2|ENST00000390724|r.?|-|-|non_protein_coding:indel:5KB_downstream_variant|SO:0000011:SO:1000032:SO:0001633 MIR509-2|ENST00000390724|r.?|-|-|non_protein_coding:indel:5KB_downstream_variant|SO:0000011:SO:1000032:SO:0001633 ./. 0 0 0 0 10 12 10 12 0 0 ./. 9 6 0 0 27 27 27 27 9 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750931169 1 6752020 TGTAA T 300 PASS DNAJC11 CCDS87.1 r.? - - Del intronic D 6752020 6752033 4 10 268.848 - - 3 1 1 DNAJC11|CCDS87.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNAJC11|CCDS87.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 11 16 11 0 0 ./. 1 4 4 5 21 27 21 27 4 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750939847 1 32257633 C CTGCCA 834 PASS SPOCD1 CCDS347.1 r.? - - Ins intronic I 32257633 32257636 5 90 859.898 - - 0 1 1 SPOCD1|CCDS347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPOCD1|CCDS347.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 8 9 9 9 28 37 28 37 9 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750941634 1 37882326 T TA 360 PASS - - - - - Ins - I 37882326 37882329 1 16 319.005 - - 2 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 3 3 6 3 21 24 21 24 6 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750943175 1 41600092 GA G 540 PASS SCMH1 CCDS30688.1 r.? - - Del intronic D 41600092 41600095 1 28 483.927 - - 2 1 1 SCMH1|CCDS30688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SCMH1|CCDS30688.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 9 7 9 0 0 ./. 6 3 8 7 28 35 28 35 8 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750943745 1 43587239 TGAG T 294 PASS - - - - - Del - D 43587239 43587246 3 24 418.718 - - 2 1 1 - - ./. 0 0 0 0 7 12 7 12 0 0 ./. 3 5 3 6 11 21 11 21 3 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750944883 1 46432258 GT G 997 PASS MAST2 CCDS41326.1 r.? - - Del intronic D 46432258 46432260 1 78 900.838 - - 1 1 1 MAST2|CCDS41326.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MAST2|CCDS41326.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 8 9 8 0 0 ./. 5 12 6 14 16 26 16 26 6 14 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750953268 1 74528835 C CA 300 PASS LRRIQ3 CCDS41350.1 r.? - - Ins intronic I 74528835 74528840 1 6 265.838 - - 4 1 1 LRRIQ3|CCDS41350.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRIQ3|CCDS41350.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 10 11 10 0 0 ./. 5 0 0 1 25 20 26 21 5 1 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750971156 1 147712260 GGA G 360 PASS - - - - - Del - D 147712260 147712277 2 12 320.21 - - 8 1 - - - ./. 0 0 0 0 24 11 24 11 0 0 ./. 5 1 6 3 68 60 68 60 6 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750978542 1 167149492 AC A 360 PASS - - - - - Del - D 167149492 167149494 1 12 321.414 - - 1 1 1 - - ./. 0 0 0 0 15 8 15 8 0 0 ./. 1 5 2 6 28 31 28 31 2 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750986262 1 189578321 G GA 300 PASS - - - - - Ins - I 189578321 189578331 1 12 258.011 - - 9 1 1 - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 3 2 3 37 44 37 45 2 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750987061 1 191988410 GA G 480 PASS - - - - - Del - D 191988410 191988418 1 24 429.555 - - 7 1 1 - - ./. 0 0 0 0 6 12 6 12 0 0 ./. 5 3 9 5 22 23 22 23 9 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750989108 1 198645552 ATCAG A 840 PASS PTPRC CCDS1397.1 r.? - - Del intronic D 198645552 198645562 4 48 751.571 - - 2 1 1 PTPRC|CCDS1397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PTPRC|CCDS1397.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 3 11 3 13 21 30 21 30 3 13 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750989203 1 199047975 G GA 300 PASS - - - - - Ins - I 199047975 199047985 1 10 265.838 - - 9 1 1 - - ./. 0 0 0 0 16 11 16 11 0 0 ./. 1 4 1 5 23 23 23 23 1 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750989972 1 200758993 A AT 300 PASS CAMSAP1L1 CCDS1404.1 r.? - - Ins intronic I 200758993 200759001 1 10 265.838 - - 7 1 1 CAMSAP1L1|CCDS1404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CAMSAP1L1|CCDS1404.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 17 9 17 0 0 ./. 1 4 2 5 29 29 29 29 2 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750990675 1 202599006 G GGC 265 PASS SYT2 CCDS1427.1 r.? - - Ins intronic I 202599006 202599008 2 20 356.519 - - 0 1 1 SYT2|CCDS1427.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SYT2|CCDS1427.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 1 9 2 0 0 ./. 3 4 7 10 18 20 19 23 7 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2750995646 1 215852074 ACG A 360 PASS USH2A CCDS31025.1 r.? - - Del intronic D 215852074 215852078 2 15 322.016 - - 1 1 - USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 USH2A|CCDS31025.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 13 12 13 0 0 ./. 4 2 6 3 29 25 29 25 6 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751001919 1 233937472 C CATG 389 PASS - - - - - Ins - I 233937472 233937476 3 14 363.744 - - 1 1 1 - - ./. 0 0 0 0 6 7 6 7 0 0 ./. 6 1 6 1 25 15 25 15 6 1 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751013547 10 14476658 TA T 300 PASS MIR1265 ENST00000408444 r.? - - Del upstream D 14476658 14476662 1 12 249.957 - - 3 1 1 MIR1265|ENST00000408444|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 MIR1265|ENST00000408444|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 13 10 13 10 0 0 ./. 2 3 3 5 19 24 19 24 3 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751017780 10 26770479 T TCATAGC 290 PASS APBB1IP CCDS31167.1 r.? - - Ins intronic I 26770479 26770486 6 35 502.924 - - 1 1 1 APBB1IP|CCDS31167.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 APBB1IP|CCDS31167.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 15 18 15 0 0 ./. 6 4 6 4 26 17 26 17 6 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751027973 10 57165741 GA G 900 PASS PCDH15 ENST00000373957 r.? - - Del intronic D 57165741 57165743 1 72 809.474 - - 1 1 1 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 8 7 9 10 23 24 23 24 9 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751038063 10 86630455 TA T 420 PASS - - - - - Del - D 86630455 86630459 1 20 375.948 - - 3 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 4 3 4 6 32 22 32 22 5 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751040688 10 94901735 AT A 540 PASS - - - - - Del - D 94901735 94901739 1 18 485.684 - - 3 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 8 1 10 2 36 16 36 16 10 2 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751060012 11 16463449 C CT 420 PASS SOX6 CCDS7821.1 r.? - - Ins intronic I 16463449 16463453 1 20 374.209 - - 3 1 1 SOX6|CCDS7821.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SOX6|CCDS7821.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 9 15 9 0 0 ./. 4 3 6 3 28 15 28 15 6 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751064242 11 27599350 TC T 300 PASS BDNFOS ENST00000501663 r.? - - Del intronic D 27599350 27599353 1 10 270.302 - - 2 1 1 BDNFOS|ENST00000501663|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 BDNFOS|ENST00000501663|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 4 11 4 0 0 ./. 4 1 4 1 31 23 31 23 4 1 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751069202 11 42783694 C CA 420 PASS - - - - - Ins - I 42783694 42783703 1 14 373.607 - - 8 1 1 - - ./. 0 0 0 0 18 2 18 2 0 0 ./. 6 1 7 1 27 2 27 2 7 1 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751082592 11 82534848 GA G 540 PASS PRCP CCDS41695.1 r.? - - Del downstream D 82534848 82534851 1 30 485.942 - - 2 1 1 PRCP|CCDS41695.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 PRCP|CCDS41695.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 5 11 5 11 0 0 ./. 5 4 7 4 22 27 22 27 7 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751084102 11 87302665 C CA 660 PASS - - - - - Ins - I 87302665 87302673 1 36 586.236 - - 7 1 1 - - ./. 0 0 0 0 6 16 6 16 0 0 ./. 3 8 4 11 27 38 28 38 4 11 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751102361 12 13273489 G GT 720 PASS - - - - - Ins - I 13273489 13273491 1 48 638.406 - - 1 1 1 - - ./. 0 0 0 0 9 11 9 11 0 0 ./. 7 5 7 5 28 25 29 26 7 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751109777 12 33992532 TA T 300 PASS - - - - - Del - D 33992532 33992539 1 12 270.267 - - 6 1 1 - - ./. 0 0 0 0 11 18 11 18 0 0 ./. 2 3 2 3 11 18 11 18 2 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751109842 12 34363707 GA G 540 PASS AC046130.1 ENST00000501954 r.? - - Del upstream D 34363707 34363713 1 10 486.481 - - 5 1 1 AC046130.1|ENST00000501954|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 AC046130.1|ENST00000501954|r.?|-|-|non_protein_coding:deletion:5KB_upstream_variant|SO:0000011:SO:0000159:SO:0001635 ./. 0 0 0 0 9 12 9 12 0 0 ./. 0 9 4 12 17 27 17 27 4 12 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751112462 12 46762145 C CAAGG 478 PASS SLC38A2 CCDS8749.1 r.? - - Ins intronic I 46762145 46762146 4 28 464.807 - - 0 1 1 SLC38A2|CCDS8749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLC38A2|CCDS8749.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 14 11 14 0 0 ./. 3 6 5 6 21 30 21 30 5 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751114181 12 51501131 TGAAATGA T 435 PASS TFCP2 CCDS8808.1 r.1177-9_1177-3delucauuuc c.718-9_718-3deltcatttc p.? Del splice region D 51501131 51501144 7 60 808.393 - - 1 1 1 TFCP2|CCDS8808.1|r.1177-9_1177-3delucauuuc|c.718-9_718-3deltcatttc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 TFCP2|CCDS8808.1|r.1177-9_1177-3delucauuuc|c.718-9_718-3deltcatttc|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 11 15 11 15 0 0 ./. 4 11 5 13 19 24 19 24 5 13 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751117379 12 61589807 C CTATTA 720 PASS - - - - - Ins - I 61589807 61589811 5 40 612.517 - - 0 1 1 - - ./. 0 0 0 0 9 13 9 14 0 0 ./. 9 3 10 4 26 23 27 23 10 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751119963 12 69654832 TTGC T 569 PASS MIR1279 CCDS8988.1 r.? - - Del intronic D 69654832 69654840 3 27 538.728 - - 2 1 1 MIR1279|CCDS8988.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MIR1279|CCDS8988.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 7 9 7 0 0 ./. 2 8 4 10 14 25 14 25 4 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751131803 12 107520517 A AATCTTT 406 PASS - - - - - Ins - I 107520517 107520518 6 60 705.573 - - 0 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 9 5 8 5 31 14 33 14 9 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751141100 12 132349282 G GT 269 PASS - - - - - Ins - I 132349282 132349292 1 12 267.257 - - 9 1 1 - - ./. 0 0 0 0 16 6 16 6 0 0 ./. 2 3 2 3 26 33 28 33 2 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751153934 13 53307809 CT C 540 PASS LECT1 CCDS45051.1 r.? - - Del intronic D 53307809 53307811 1 30 480.622 - - 1 1 1 LECT1|CCDS45051.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LECT1|CCDS45051.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 15 12 15 0 0 ./. 5 4 7 6 22 25 22 25 7 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751154951 13 56733827 T TA 360 PASS - - - - - Ins - I 56733827 56733835 1 16 321.017 - - 7 1 1 - - ./. 0 0 0 0 9 9 9 9 0 0 ./. 3 3 5 6 29 26 29 26 5 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751157601 13 64545532 C CT 840 PASS - - - - - Ins - I 64545532 64545541 1 60 750.444 - - 8 1 1 - - ./. 0 0 0 0 10 8 11 8 0 0 ./. 9 5 10 6 24 25 24 25 10 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751158721 13 68333193 T TA 420 PASS - - - - - Ins - I 68333193 68333202 1 20 373.416 - - 8 1 1 - - ./. 0 0 0 0 8 14 8 14 0 0 ./. 4 3 6 4 19 22 19 22 6 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751172424 13 109655462 AC A 600 PASS MYO16 CCDS32008.1 r.? - - Del intronic D 109655462 109655464 1 36 535.429 - - 1 1 1 MYO16|CCDS32008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO16|CCDS32008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 7 14 7 0 0 ./. 5 5 7 10 21 22 21 22 7 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751174070 14 19013468 A AA 360 PASS - - - - - Ins - I 19013466 19013469 1 7 321.777 - - 2 1 1 - - ./. 0 0 0 0 38 73 38 74 0 0 ./. 0 6 0 1 48 169 48 169 0 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751186519 14 56017236 CA C 1080 PASS - - - - - Del - D 56017236 56017245 1 91 974.361 - - 8 1 1 - - ./. 0 0 0 0 13 15 13 15 0 0 ./. 6 12 6 12 21 34 21 34 6 12 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751188158 14 61338216 T TA 900 PASS MNAT1 CCDS9750.1 r.? - - Ins intronic I 61338216 61338218 1 60 804.442 - - 1 1 1 MNAT1|CCDS9750.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MNAT1|CCDS9750.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 11 4 11 28 27 30 27 4 11 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751188578 14 62434980 G GA 360 PASS - - - - - Ins - I 62434980 62434990 1 7 321.175 - - 9 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 0 6 0 6 25 48 25 49 0 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751190645 14 69597287 G GT 720 PASS DCAF5 CCDS32106.1 r.? - - Ins intronic I 69597287 69597289 1 48 643.554 - - 1 1 1 DCAF5|CCDS32106.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DCAF5|CCDS32106.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 7 5 8 7 25 28 25 28 8 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751191839 14 72981970 C CA 300 PASS RGS6 CCDS9808.1 r.? - - Ins intronic I 72981970 72981971 1 12 266.943 - - 0 1 1 RGS6|CCDS9808.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RGS6|CCDS9808.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 11 15 11 0 0 ./. 2 3 4 6 18 35 18 35 4 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751196664 14 86758411 A AT 900 PASS - - - - - Ins - I 86758411 86758418 1 66 802.636 - - 6 1 1 - - ./. 0 0 0 0 16 13 16 13 0 0 ./. 5 10 7 11 19 29 19 29 7 11 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751200060 14 96858208 A ACCC 269 PASS AK7 CCDS9945.1 r.? - - Ins upstream I 96858208 96858215 3 6 260.923 - - 6 1 - AK7|CCDS9945.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 AK7|CCDS9945.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 6 5 6 5 0 0 ./. 0 5 0 7 6 23 6 23 0 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751204756 15 22377523 TCTA T 385 PASS OR4N4 CCDS32173.1 r.? - - Del upstream D 22377523 22377529 3 24 488.374 - - 1 1 1 OR4N4|CCDS32173.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 OR4N4|CCDS32173.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 7 7 7 7 0 0 ./. 2 7 5 7 19 20 19 21 5 8 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751205185 15 23240608 GTCT G 303 PASS - - - - - Del - D 23240608 23240619 3 20 378.642 - - 3 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 4 3 4 5 15 19 15 19 4 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751218580 15 62791641 C CA 660 PASS - - - - - Ins - I 62791641 62791649 1 42 589.074 - - 7 1 1 - - ./. 0 0 0 0 6 14 6 14 0 0 ./. 6 5 7 7 24 25 24 25 7 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751228862 15 94411814 TG T 480 PASS - - - - - Del - D 94411814 94411818 1 25 431.099 - - 3 1 1 - - ./. 0 0 0 0 15 13 15 13 0 0 ./. 4 4 4 10 18 27 18 27 4 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751238664 16 17658364 C CA 420 PASS - - - - - Ins - I 17658364 17658373 1 20 373.2 - - 8 1 1 - - ./. 0 0 0 0 10 6 10 6 0 0 ./. 3 4 7 6 27 19 29 19 7 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751242725 16 28527828 T TA 629 PASS - - - - - Ins - I 28527828 28527836 1 42 590.241 - - 7 1 1 - - ./. 0 0 0 0 14 10 15 10 0 0 ./. 6 5 9 6 23 28 24 29 9 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751252428 16 72022914 GT G 300 PASS PKD1L3 ENST00000335106 r.? - - Del intronic D 72022914 72022920 1 12 271.302 - - 5 1 1 PKD1L3|ENST00000335106|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PKD1L3|ENST00000335106|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 12 13 12 0 0 ./. 2 3 3 3 15 21 15 21 3 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751259461 17 3578355 ACGGAGT A 435 PASS P2RX5 CCDS11034.1 r.? - - Del intronic D 3578355 3578363 6 70 811.674 - - 1 1 1 P2RX5|CCDS11034.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 P2RX5|CCDS11034.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 12 15 12 0 0 ./. 6 9 7 12 30 28 30 28 7 12 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751271740 17 39049610 T TA 300 PASS - - - - - Ins - I 39049610 39049611 1 12 266.946 - - 0 1 1 - - ./. 0 0 0 0 10 8 10 8 0 0 ./. 3 2 4 5 13 14 13 14 4 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751275470 17 49879946 AAAC A 329 PASS CA10 CCDS32684.1 r.? - - Del intronic D 49879946 49879953 3 7 319.853 - - 2 1 - CA10|CCDS32684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CA10|CCDS32684.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 12 6 12 0 0 ./. 6 0 11 0 48 32 48 32 11 0 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751277522 17 54568479 CTAATTACTACCTG C 319 PASS ENSG00000236302 ENST00000431215 r.? - - Del upstream D 54568479 54568512 13 40 595.228 - - 2 1 1 ENSG00000236302|ENST00000431215|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ENSG00000236302|ENST00000431215|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 7 5 8 42 45 42 45 5 8 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751280869 17 60488053 AAG A 300 PASS ENSG00000172421 CCDS45751.1 r.? - - Del intronic D 60488053 60488072 2 12 270.558 - - 9 1 1 ENSG00000172421|CCDS45751.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000172421|CCDS45751.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 3 14 3 0 0 ./. 3 2 4 2 58 18 58 18 4 2 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751281483 17 61608301 TG T 300 PASS KCNH6 CCDS11638.1 r.? - - Del intronic D 61608301 61608311 1 12 269.956 - - 9 1 1 KCNH6|CCDS11638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNH6|CCDS11638.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 10 13 10 0 0 ./. 3 2 3 3 55 59 55 59 3 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751282962 17 64299616 C CG 300 PASS PRKCA CCDS11664.1 r.? - - Ins intronic I 64299616 64299621 1 6 267.548 - - 4 1 1 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PRKCA|CCDS11664.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 5 7 5 7 0 0 ./. 5 0 7 1 50 59 50 60 7 1 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751284596 17 66622138 T TC 329 PASS - - - - - Ins - I 66622138 66622139 1 12 319.251 - - 0 1 1 - - ./. 0 0 0 0 10 10 10 11 0 0 ./. 5 1 5 7 70 58 73 58 5 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751287558 17 72679043 C CA 300 PASS RAB37 CCDS11703.1 r.? - - Ins intronic I 72679043 72679053 1 12 267.548 - - 9 1 1 RAB37|CCDS11703.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RAB37|CCDS11703.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 15 22 15 0 0 ./. 2 3 3 3 48 51 48 52 3 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751296802 18 11508082 A AAAT 329 PASS - - - - - Ins - I 11508082 11508086 3 15 312.41 - - 1 1 1 - - ./. 0 0 0 0 9 12 10 12 0 0 ./. 2 4 2 4 23 17 23 17 2 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751307297 18 48145870 A AT 660 PASS MAPK4 CCDS42437.1 r.? - - Ins intronic I 48145870 48145879 1 42 584.994 - - 8 1 - MAPK4|CCDS42437.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MAPK4|CCDS42437.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 6 5 7 6 35 29 36 29 7 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751307661 18 49283318 AGT A 300 PASS - - - - - Del - D 49283318 49283333 2 10 271.38 - - 7 1 1 - - ./. 0 0 0 0 10 13 10 13 0 0 ./. 4 1 4 1 24 21 24 21 4 1 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751312810 18 64554462 TTAAAATTTG T 261 PASS - - - - - Del - D 64554462 64554476 9 30 487.279 - - 1 1 1 - - ./. 0 0 0 0 4 10 4 10 0 0 ./. 4 5 3 5 12 25 13 25 4 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751318419 19 2164029 CGCG C 298 PASS DOT1L CCDS42460.1 r.? - - Del upstream D 2164029 2164053 3 15 310.386 - - 7 1 - DOT1L|CCDS42460.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 DOT1L|CCDS42460.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 5 7 5 7 0 0 ./. 2 4 2 4 25 27 25 27 2 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751336759 19 45425619 AG A 749 PASS APOC1 CCDS12648.1 r.? - - Del downstream D 45425619 45425622 1 50 703.91 - - 2 1 1 APOC1|CCDS12648.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 APOC1|CCDS12648.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 11 16 11 16 0 0 ./. 4 9 7 10 28 22 28 22 7 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751346458 2 11211854 T TA 1020 PASS - - - - - Ins - I 11211854 11211858 1 78 904.585 - - 3 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 12 5 12 7 25 24 26 24 12 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751349830 2 22474257 GA G 329 PASS - - - - - Del - D 22474257 22474260 1 7 322.878 - - 2 1 1 - - ./. 0 0 0 0 12 10 12 10 0 0 ./. 0 6 2 8 6 26 6 26 2 8 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751351579 2 27489834 C CAT 720 PASS SLC30A3 CCDS1743.1 r.? - - Ins upstream I 27489834 27489841 2 45 630.704 - - 3 1 1 SLC30A3|CCDS1743.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 SLC30A3|ENST00000426924|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 14 17 14 0 0 ./. 8 4 9 6 28 29 28 31 9 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751353148 2 32342173 C CA 360 PASS SPAST CCDS1778.1 r.? - - Ins intronic I 32342173 32342179 1 16 319.265 - - 5 1 1 SPAST|CCDS1778.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SPAST|CCDS1778.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 4 14 4 14 0 0 ./. 3 3 4 10 12 28 12 28 4 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751361557 2 58976283 T TTA 300 PASS - - - - - Ins - I 58976283 58976287 2 12 263.044 - - 1 1 1 - - ./. 0 0 0 0 14 9 14 9 0 0 ./. 2 3 11 7 21 17 21 17 11 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751362760 2 62723179 CT C 420 PASS TMEM17 CCDS1871.1 r.? - - Del downstream D 62723179 62723188 1 18 376.69 - - 8 1 1 TMEM17|CCDS1871.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 TMEM17|CCDS1871.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 12 13 12 13 0 0 ./. 2 5 3 6 15 20 15 20 3 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751369918 2 85696280 T TG 480 PASS - - - - - Ins - I 85696280 85696289 1 24 414.85 - - 8 1 - - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 5 3 6 3 29 20 30 20 6 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751371189 2 90121156 A AT 537 PASS - - - - - Ins - I 90121156 90121165 1 54 690.537 - - 8 1 1 - - ./. 0 0 0 0 6 13 6 13 0 0 ./. 5 8 5 10 27 29 27 29 5 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751376639 2 110102009 C CA 720 PASS SH3RF3 ENST00000309415 r.? - - Ins intronic I 110102009 110102017 1 49 638.53 - - 7 1 1 SH3RF3|ENST00000309415|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SH3RF3|ENST00000309415|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 12 8 12 0 0 ./. 6 6 6 9 20 34 20 35 6 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751382517 2 130241236 T TA 300 PASS - - - - - Ins - I 130241236 130241244 1 12 262.442 - - 7 1 1 - - ./. 0 0 0 0 9 14 9 14 0 0 ./. 3 2 5 3 22 21 22 22 5 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751383150 2 132439357 AC A 677 PASS - - - - - Del - D 132439357 132439360 1 45 645.755 - - 2 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 8 4 9 7 29 22 29 22 9 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751385045 2 137797863 T TATTTTGA 493 PASS THSD7B ENST00000409968 r.? - - Ins intronic I 137797863 137797871 7 88 843.175 - - 1 1 1 THSD7B|ENST00000409968|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 THSD7B|ENST00000409968|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 8 14 8 0 0 ./. 7 10 7 10 27 33 27 34 7 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751389206 2 151069860 AATTT A 538 PASS - - - - - Del - D 151069860 151069865 4 35 533.915 - - 1 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 6 4 7 6 27 25 27 25 7 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751391102 2 157021682 A AG 1080 PASS - - - - - Ins - I 157021682 157021686 1 100 956.591 - - 3 1 1 - - ./. 0 0 0 0 12 22 12 22 0 0 ./. 9 9 11 9 25 21 25 21 11 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751404060 2 198253828 AG A 840 PASS SF3B1 CCDS33356.1 r.? - - Del downstream D 198253828 198253831 1 60 752.779 - - 2 1 1 SF3B1|CCDS33356.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 SF3B1|CCDS33356.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 9 13 9 13 0 0 ./. 5 9 6 12 19 30 19 30 6 12 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751420046 20 3523465 TTG T 300 PASS ATRN CCDS13053.1 r.? - - Del intronic D 3523465 3523469 2 6 260.101 - - 1 1 1 ATRN|CCDS13053.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRN|CCDS13053.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 4 7 4 7 0 0 ./. 5 0 11 1 27 15 27 15 11 1 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751436038 20 49434976 CCT C 300 PASS BCAS4 CCDS33487.1 r.? - - Del intronic D 49434976 49434992 2 12 270.938 - - 7 1 - BCAS4|CCDS33487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCAS4|CCDS33487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 10 12 10 0 0 ./. 2 3 3 3 31 24 31 24 3 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751436297 20 50102747 C CA 300 PASS NFATC2 CCDS33488.1 r.? - - Ins intronic I 50102747 50102751 1 6 267.326 - - 3 1 1 NFATC2|CCDS33488.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NFATC2|CCDS33488.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 17 7 17 7 0 0 ./. 5 0 9 9 146 134 146 134 9 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751436573 20 50336284 AG A 360 PASS ATP9A CCDS33489.1 r.? - - Del intronic D 50336284 50336293 1 15 325.126 - - 8 1 1 ATP9A|CCDS33489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATP9A|CCDS33489.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 3 7 3 7 0 0 ./. 4 2 16 9 182 145 182 145 16 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751436834 20 50513677 AAG A 505 PASS - - - - - Del - D 50513677 50513681 2 12 563.553 - - 1 1 - - - ./. 0 0 0 0 10 3 10 3 0 0 ./. 11 0 32 0 197 29 197 29 32 0 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751437518 20 51114477 G GA 960 PASS - - - - - Ins - I 51114477 51114487 1 77 854.359 - - 9 1 1 - - ./. 0 0 0 0 14 16 14 16 0 0 ./. 10 6 18 7 229 171 232 176 18 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751438034 20 51842973 GTA G 840 PASS TSHZ2 CCDS33490.1 r.? - - Del intronic D 51842973 51842977 2 60 755.014 - - 1 1 - TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TSHZ2|CCDS33490.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 5 9 10 12 184 194 184 194 10 12 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751439044 20 52661761 A AC 1140 PASS BCAS1 CCDS13444.1 r.? - - Ins intronic I 52661761 52661762 1 110 1008.49 - - 0 1 - BCAS1|CCDS13444.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BCAS1|CCDS13444.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 16 9 16 0 0 ./. 9 10 12 15 221 263 225 266 12 15 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751439156 20 52771478 TAAAAAAAAAAAAAAAAA T 348 PASS CYP24A1 CCDS33491.1 r.? - - Del intronic D 52771478 52771523 17 13 616.536 - - 2 1 - CYP24A1|CCDS33491.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 CYP24A1|CCDS33491.1|r.?|-|-|protein_coding:three_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000205:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 4 9 4 0 0 ./. 0 12 2 15 103 98 103 101 2 19 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751440015 20 53939679 A AT 300 PASS - - - - - Ins - I 53939679 53939689 1 6 267.928 - - 9 1 1 - - ./. 0 0 0 0 14 14 14 14 0 0 ./. 0 5 0 6 135 144 135 148 0 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751441602 20 56023779 GCA G 329 PASS - - - - - Del - D 56023779 56023795 2 15 305.258 - - 7 1 - - - ./. 0 0 0 0 19 16 19 16 0 0 ./. 2 4 2 9 125 133 125 133 2 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751442050 20 56989205 GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCT G 266 PASS VAPB CCDS33498.1 r.? - - Del intronic D 56989205 56989291 48 35 532.845 - - 1 1 1 VAPB|CCDS33498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VAPB|CCDS33498.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 5 10 5 0 0 ./. 4 6 0 0 64 66 64 68 4 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751442308 20 57465342 AGGGCGCCGAGGAGGGCGCCGTCGG A 1102 PASS GNAS CCDS46622.1 r.? - - Del intronic D 57465342 57465387 24 384 2047.09 - - 1 1 1 GNAS|CCDS46622.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GNAS|CCDS46622.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 5 9 5 0 0 ./. 23 15 20 20 77 46 77 46 26 22 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751449094 21 16707878 GCTA G 598 PASS - - - - - Del - D 16707878 16707884 3 36 598.684 - - 1 1 1 - - ./. 0 0 0 0 10 17 10 17 0 0 ./. 3 8 3 9 14 26 14 26 3 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751449968 21 19443374 A AT 300 PASS CHODL ENST00000400128 r.? - - Ins intronic I 19443374 19443381 1 10 269.119 - - 6 1 1 CHODL|ENST00000400128|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CHODL|ENST00000400128|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 17 8 17 0 0 ./. 1 4 2 6 23 27 24 27 2 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751451591 21 23569178 CT C 540 PASS - - - - - Del - D 23569178 23569183 1 30 486.22 - - 4 1 1 - - ./. 0 0 0 0 14 13 14 13 0 0 ./. 5 4 6 6 29 31 29 31 6 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751463652 22 24771361 TTGACAAAATAATGACAATATCCAGCAGTATATTAAAGAGGATTATACACCC T 319 PASS CYTSA CCDS33619.1 r.? - - Del intronic D 24771361 24771417 51 36 601.569 - - 1 1 1 CYTSA|CCDS33619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CYTSA|CCDS33619.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 11 20 11 0 0 ./. 3 8 1 0 13 4 15 12 3 8 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751471105 22 50268957 C CT 600 PASS ZBED4 CCDS33677.1 r.? - - Ins intronic I 50268957 50268959 1 32 540.86 - - 1 1 1 ZBED4|CCDS33677.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ZBED4|CCDS33677.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 13 8 13 0 0 ./. 3 7 5 11 19 25 19 26 5 11 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751472652 3 3444932 C CAT 420 PASS - - - - - Ins - I 3444932 3444943 2 18 369 - - 5 1 1 - - ./. 0 0 0 0 4 15 4 15 0 0 ./. 2 5 4 5 17 30 17 30 4 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751475216 3 11186097 A ATCTATAGGTATATATACCTATAGACGTATAGACATACG 377 PASS HRH1 CCDS2604.1 r.? - - Ins intronic I 11186097 11186115 38 50 390.879 - - 0 1 - HRH1|CCDS2604.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 HRH1|CCDS2604.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 10 14 14 0 0 ./. 9 4 0 0 38 31 43 40 9 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751490651 3 60454977 TTC T 300 PASS FHIT CCDS2894.1 r.? - - Del intronic D 60454977 60454993 2 12 268.388 - - 7 1 1 FHIT|CCDS2894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FHIT|CCDS2894.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 3 2 3 2 31 22 31 22 3 2 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751495076 3 74983627 CTGTT C 398 PASS - - - - - Del - D 74983627 74983635 4 34 1777.5 - - 1 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 33 0 28 0 59 13 64 13 33 0 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751500782 3 95467707 GAC G 480 PASS - - - - - Del - D 95467707 95467715 2 25 431.348 - - 3 1 1 - - ./. 0 0 0 0 8 11 8 11 0 0 ./. 4 4 8 5 23 25 23 25 8 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751506135 3 113212326 TATTAACTCATTTTACTCTCATAAAACCCTATAAGTACAATTACTATTTTACAGATCAGTAAACTGAAACTCACAGACATTAAGTAACTAGCCCAGAGTAACACTAATAGATTGCCAAGCCGGAATTCAAACCTTACATGAAAAACTAATGATGTTTCTAGAAGATTAAGATAAACAATGAACTACACACAC T 348 PASS CCDC52 CCDS2973.1 r.? - - Del intronic D 113212326 113212523 191 48 647.022 - - 1 1 1 CCDC52|CCDS2973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC52|CCDS2973.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 13 6 13 0 0 ./. 7 5 0 0 22 18 29 23 7 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751508936 3 122209104 AG A 749 PASS KPNA1 CCDS3013.1 r.? - - Del intronic D 122209104 122209107 1 56 697.93 - - 2 1 1 KPNA1|CCDS3013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KPNA1|CCDS3013.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 11 11 11 0 0 ./. 6 7 7 9 28 28 28 34 7 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751518018 3 152075111 CTTT C 629 PASS MBNL1 CCDS3165.1 r.? - - Del intronic D 152075111 152075117 3 42 590.093 - - 5 1 1 MBNL1|CCDS3165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MBNL1|CCDS3165.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 5 11 5 0 0 ./. 5 6 7 7 26 28 26 28 7 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751520607 3 161479828 GAAATTTCAACATTTTTACATACATGCAAAGTGATTACACACAGGT GGGC 261 PASS - - - - - Complex - DI 161479829 161479873 45 28 0 - - 0 1 1 - - ./. 0 0 0 0 12 5 12 5 0 0 ./. 6 3 0 0 20 22 23 24 6 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751526355 3 179937641 AAG A 360 PASS - - - - - Del - D 179937641 179937661 2 12 322.909 - - 9 1 1 - - ./. 0 0 0 0 19 11 19 11 0 0 ./. 1 5 1 5 19 26 19 26 1 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751526504 3 180526808 G GT 360 PASS CCDC39 ENST00000471307 r.? - - Ins intronic I 180526808 180526818 1 15 319.898 - - 9 1 1 CCDC39|ENST00000471307|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 CCDC39|ENST00000471307|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 17 9 17 0 0 ./. 2 4 2 5 27 41 27 42 2 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751528794 3 187032784 AAGAG A 509 PASS - - - - - Del - D 187032784 187032792 4 30 485.266 - - 3 1 1 - - ./. 0 0 0 0 14 17 14 17 0 0 ./. 4 5 6 9 21 15 21 15 6 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751536211 4 11052224 A AAC 300 PASS - - - - - Ins - I 11052224 11052244 2 12 259.881 - - 9 1 - - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 3 2 6 6 31 27 31 27 6 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751546851 4 43246116 T TGC 300 PASS - - - - - Ins - I 43246116 43246118 2 12 258.677 - - 0 1 1 - - ./. 0 0 0 0 6 7 6 8 0 0 ./. 3 2 5 7 18 19 18 19 5 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751557247 4 77045926 T TG 300 PASS NUP54 CCDS3576.1 r.? - - Ins intronic I 77045926 77045936 1 6 265.299 - - 9 1 1 NUP54|CCDS3576.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NUP54|CCDS3576.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 7 6 7 6 0 0 ./. 5 0 5 1 19 17 19 18 5 1 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751558870 4 82584603 C CTTTAA 267 PASS - - - - - Ins - I 82584603 82584613 5 15 304.753 - - 1 1 1 - - ./. 0 0 0 0 11 6 12 6 0 0 ./. 2 4 2 6 14 19 14 19 2 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751562261 4 94336024 T TA 540 PASS GRID2 CCDS3637.1 r.? - - Ins intronic I 94336024 94336027 1 28 479.706 - - 2 1 1 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 GRID2|CCDS3637.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 5 13 5 0 0 ./. 6 3 9 5 18 9 18 9 9 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751572211 4 127994406 C CTAG 389 PASS - - - - - Ins - I 127994406 127994410 3 20 364.676 - - 1 1 1 - - ./. 0 0 0 0 11 11 11 11 0 0 ./. 4 3 5 6 19 21 19 21 5 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751582490 4 161438537 C CT 420 PASS - - - - - Ins - I 161438537 161438544 1 18 373.105 - - 6 1 1 - - ./. 0 0 0 0 10 3 10 3 0 0 ./. 5 2 5 5 24 11 24 11 5 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751590997 4 185371990 ATTTG A 300 PASS IRF2 CCDS3835.1 r.? - - Del intronic D 185371990 185372013 4 12 269.514 - - 5 1 - IRF2|CCDS3835.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 IRF2|CCDS3835.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 13 15 13 0 0 ./. 3 2 3 2 27 14 27 14 3 2 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751598270 5 11819542 AAGACAGACAGAC A 435 PASS CTNND2 CCDS3881.1 r.? - - Del intronic D 11819542 11819575 12 70 809.592 - - 8 1 - CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 20 14 20 0 0 ./. 6 9 6 8 20 24 20 26 7 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751598670 5 13325206 T TA 480 PASS - - - - - Ins - I 13325206 13325213 1 21 426.966 - - 6 1 1 - - ./. 0 0 0 0 9 18 9 18 0 0 ./. 6 2 9 4 24 22 25 23 9 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751599712 5 16643549 A AT 540 PASS - - - - - Ins - I 16643549 16643559 1 30 480.337 - - 9 1 1 - - ./. 0 0 0 0 10 10 10 10 0 0 ./. 5 4 10 5 22 21 22 21 10 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751603308 5 26904036 G GT 780 PASS CDH9 CCDS3893.1 r.? - - Ins intronic I 26904036 26904042 1 50 693.218 - - 5 1 1 CDH9|CCDS3893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDH9|CCDS3893.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 7 10 9 0 0 ./. 4 9 5 9 17 31 17 31 5 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751603457 5 27372407 TTAGCATTTGTTTCATTTTGTTTTTCCAATTCAGAACGTTTCTATTGGGTCTCTCCTGGAAACTA T 261 PASS - - - - - Del - D 27372407 27372474 64 30 484.551 - - 1 1 1 - - ./. 0 0 0 0 8 10 8 10 0 0 ./. 4 5 0 0 17 9 21 14 4 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751617078 5 75163505 AG A 720 PASS - - - - - Del - D 75163505 75163507 1 33 647.072 - - 1 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 10 2 13 3 34 20 34 20 13 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751617810 5 77440245 TA T 509 PASS AP3B1 CCDS4041.1 r.? - - Del intronic D 77440245 77440250 1 28 485.755 - - 4 1 1 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AP3B1|CCDS4041.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 9 16 9 0 0 ./. 6 3 8 3 24 24 24 24 8 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751617870 5 77642196 TAA T 660 PASS - - - - - Del - D 77642196 77642202 2 40 593.701 - - 5 1 1 - - ./. 0 0 0 0 11 7 11 7 0 0 ./. 4 7 7 10 26 29 26 29 7 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751619698 5 82819454 TG T 780 PASS VCAN CCDS4060.1 r.? - - Del intronic D 82819454 82819456 1 54 701.646 - - 1 1 1 VCAN|CCDS4060.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VCAN|CCDS4060.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 11 10 11 0 0 ./. 8 5 12 6 31 26 31 26 12 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751623885 5 98450646 CCA C 300 PASS - - - - - Del - D 98450646 98450665 2 12 266.252 - - 9 1 - - - ./. 0 0 0 0 12 14 12 14 0 0 ./. 2 3 3 3 25 31 25 31 3 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751625356 5 103250650 C CAT 480 PASS - - - - - Ins - I 103250650 103250667 2 25 420.945 - - 8 1 1 - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 4 4 6 4 30 15 31 15 6 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751627995 5 112386766 G GGT 420 PASS MCC CCDS4111.1 r.? - - Ins intronic I 112386766 112386772 2 18 368.177 - - 2 1 1 MCC|CCDS4111.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MCC|CCDS4111.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 11 6 11 6 0 0 ./. 2 5 4 7 17 28 18 29 4 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751630767 5 121943508 GA G 600 PASS - - - - - Del - D 121943508 121943514 1 36 539.728 - - 5 1 1 - - ./. 0 0 0 0 14 11 14 11 0 0 ./. 5 5 9 7 27 17 27 17 9 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751631215 5 123228296 AAT A 540 PASS - - - - - Del - D 123228296 123228300 2 28 481.541 - - 1 1 1 - - ./. 0 0 0 0 8 9 8 9 0 0 ./. 6 3 8 9 21 27 21 27 8 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751631916 5 125410057 TA T 809 PASS - - - - - Del - D 125410057 125410067 1 48 748.394 - - 9 1 1 - - ./. 0 0 0 0 16 20 16 20 0 0 ./. 11 3 15 3 38 19 38 19 15 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751651547 6 6283750 TAAT TTA 600 PASS F13A1 CCDS4496.1 r.? - - Complex intronic DI 6283751 6283753 3 35 0 - - 0 1 1 F13A1|CCDS4496.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 F13A1|CCDS4496.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 6 15 6 15 0 0 ./. 4 6 0 0 22 39 22 39 4 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751653344 6 10059663 C CAATGTTT 261 PASS OFCC1 ENST00000485268 r.? - - Ins intronic I 10059663 10059671 7 28 447.523 - - 1 1 1 OFCC1|ENST00000485268|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 OFCC1|ENST00000485268|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 11 12 11 0 0 ./. 6 3 6 3 37 31 37 31 6 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751653594 6 10525476 AAGC A 1016 PASS GCNT2 CCDS34338.1 r.? - - Del upstream D 10525476 10525481 3 110 1024.84 - - 1 1 1 GCNT2|CCDS34338.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 GCNT2|CCDS34338.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 7 13 7 0 0 ./. 9 10 11 14 31 49 31 49 11 14 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751653867 6 11034634 TGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCTGGAGTTGAACACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTA T 261 PASS ELOVL2 CCDS4518.1 r.? - - Del intronic D 11034634 11034785 135 24 483.646 - - 1 1 1 ELOVL2|CCDS4518.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ELOVL2|CCDS4518.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 9 5 9 0 0 ./. 2 7 0 0 25 21 26 25 2 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751659531 6 23611244 G GGCACA 658 PASS - - - - - Ins - I 23611244 23611250 5 45 609.942 - - 1 1 1 - - ./. 0 0 0 0 10 14 10 14 0 0 ./. 8 4 8 4 41 26 41 26 8 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751670649 6 48084102 AT A 1320 PASS - - - - - Del - D 48084102 48084108 1 143 1186.66 - - 5 1 1 - - ./. 0 0 0 0 16 9 16 9 0 0 ./. 10 12 16 14 36 30 36 30 16 14 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751671484 6 50769360 GT G 300 PASS - - - - - Del - D 50769360 50769362 1 6 266.083 - - 1 1 1 - - ./. 0 0 0 0 12 8 12 8 0 0 ./. 5 0 7 0 58 34 58 34 7 0 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751672877 6 54563098 C CACAGGTG 261 PASS - - - - - Ins - I 54563098 54563106 7 30 447.523 - - 1 1 1 - - ./. 0 0 0 0 5 9 5 9 0 0 ./. 5 4 5 6 29 36 31 38 5 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751683024 6 92539948 TATAA T 418 PASS - - - - - Del - D 92539948 92539956 4 24 431.513 - - 1 1 1 - - ./. 0 0 0 0 11 12 11 12 0 0 ./. 3 5 4 6 13 15 13 15 4 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751689662 6 117211403 C CT 600 PASS RFX6 CCDS5113.1 r.? - - Ins intronic I 117211403 117211405 1 32 532.167 - - 1 1 1 RFX6|CCDS5113.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RFX6|CCDS5113.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 16 13 16 0 0 ./. 7 3 9 5 31 25 32 25 9 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751701287 6 156422421 G GA 600 PASS - - - - - Ins - I 156422421 156422426 1 35 533.371 - - 4 1 1 - - ./. 0 0 0 0 12 9 12 9 0 0 ./. 6 4 8 5 33 18 33 18 8 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751712431 7 16900909 TTAA T 658 PASS AGR3 CCDS5365.1 r.? - - Del intronic D 16900909 16900913 3 49 647.704 - - 1 1 1 AGR3|CCDS5365.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AGR3|CCDS5365.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 13 11 13 0 0 ./. 6 6 6 8 18 23 18 23 6 8 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751715120 7 25166593 G GT 720 PASS CYCS CCDS5393.1 r.? - - Ins upstream I 25166593 25166600 1 48 640.48 - - 6 1 1 CYCS|CCDS5393.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 CYCS|CCDS5393.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 15 13 15 14 0 0 ./. 7 5 7 8 24 28 24 28 7 8 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751728881 7 66568312 A AG 660 PASS TYW1 CCDS5538.1 r.? - - Ins intronic I 66568312 66568314 1 36 587.106 - - 1 1 1 TYW1|CCDS5538.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TYW1|CCDS5538.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 11 13 11 0 0 ./. 8 3 10 4 25 23 25 24 10 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751741914 7 106433622 AGT A 960 PASS - - - - - Del - D 106433622 106433627 2 81 863.606 - - 2 1 1 - - ./. 0 0 0 0 18 9 18 9 0 0 ./. 8 8 9 8 26 33 26 33 9 8 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751743186 7 110769459 TTATATTTACTATATTATATGTTATATATATTATTACCATTATATATTACTA T 348 PASS LRRN3 CCDS5754.1 r.? - - Del downstream D 110769459 110769514 51 45 647.704 - - 1 1 - LRRN3|CCDS5754.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 8 7 8 0 0 ./. 8 4 0 0 4 15 12 19 8 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751749509 7 132462226 ATCT A 629 PASS - - - - - Del - D 132462226 132462233 3 30 592.525 - - 2 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 9 2 10 19 39 19 39 2 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751757494 7 155531649 TCTTACCAAGTGTATATTTCTTCTTGTATTGTAGGGTTACTATTAAAATACATAGCGATGGTAAACTTGAATCAACTATTTAAAAATACGTGGAATACGTATCTAAGCCAAAAACGGAAA T 290 PASS RBM33 CCDS5941.2 r.? - - Del intronic D 155531649 155531769 119 35 538.549 - - 1 1 1 RBM33|CCDS5941.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RBM33|CCDS5941.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 8 11 8 11 0 0 ./. 6 4 0 0 11 18 17 22 6 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751760630 8 5175857 GA G 480 PASS - - - - - Del - D 5175857 5175865 1 21 430.899 - - 7 1 1 - - ./. 0 0 0 0 14 8 14 8 0 0 ./. 6 2 9 8 17 29 17 29 9 8 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751761216 8 6520242 G GT 269 PASS - - - - - Ins - I 6520242 6520247 1 6 244.627 - - 4 1 1 - - ./. 0 0 0 0 16 12 16 12 0 0 ./. 5 0 6 2 36 23 37 23 7 2 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751768856 8 27664857 TAA T 900 PASS ESCO2 CCDS34872.1 r.? - - Del downstream D 27664857 27664863 2 72 807.936 - - 5 1 1 ESCO2|CCDS34872.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ESCO2|ENST00000397418|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 12 9 12 0 0 ./. 7 8 10 10 24 32 24 32 10 10 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751772830 8 39922541 A AC 420 PASS - - - - - Ins - I 39922541 39922543 1 20 372.822 - - 1 1 1 - - ./. 0 0 0 0 6 13 7 13 0 0 ./. 3 4 4 4 21 29 21 29 4 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751773589 8 42059113 CCTTCATCTGTGTTCGTAGAACAGTATCAACAGGAGCCATTATTTCCTGAATACAGGGTGATGTCTTTAA C 319 PASS PLAT CCDS6126.1 r.? - - Del intronic D 42059113 42059183 69 42 589.476 - - 1 1 1 PLAT|CCDS6126.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLAT|CCDS6126.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 6 5 0 0 16 15 22 20 6 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751776685 8 55587087 G GGA 600 PASS RP1 ENST00000427058 r.? - - Ins intronic I 55587087 55587088 2 20 518.154 - - 0 1 - RP1|ENST00000427058|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RP1|ENST00000427058|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 12 14 12 14 0 0 ./. 1 9 4 2 104 84 105 85 5 11 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751780277 8 62752584 G GT 718 PASS - - - - - Ins - I 62752584 62752594 1 54 686.364 - - 9 1 1 - - ./. 0 0 0 0 10 12 10 12 0 0 ./. 5 8 8 8 198 184 200 186 8 8 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751780645 8 63565840 CAG C 660 PASS NKAIN3 ENST00000328472 r.? - - Del intronic D 63565840 63565858 2 40 590.078 - - 8 1 1 NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 10 10 10 10 0 0 ./. 4 7 4 9 80 90 80 90 4 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751780695 8 63677823 AAAG A 267 PASS NKAIN3 ENST00000328472 r.? - - Del intronic D 63677823 63677829 3 12 308.725 - - 1 1 - NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NKAIN3|ENST00000328472|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 5 5 5 5 0 0 ./. 1 5 6 16 78 58 78 58 6 17 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751781025 8 64200101 A AT 393 PASS - - - - - Ins - I 64200101 64200111 1 20 371.016 - - 9 1 1 - - ./. 0 0 0 0 5 11 5 12 0 0 ./. 3 4 4 4 42 96 44 98 4 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751786771 8 77184738 T TA 269 PASS - - - - - Ins - I 77184738 77184748 1 12 266.302 - - 9 1 1 - - ./. 0 0 0 0 15 12 16 12 0 0 ./. 3 2 4 3 57 73 57 74 4 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751787546 8 79079200 G GAAAGAAAGAAAGAAAC 380 PASS - - - - - Ins - I 79079200 79079204 16 16 352.631 - - 0 1 - - - ./. 0 0 0 0 9 4 9 4 0 0 ./. 1 7 0 0 52 34 54 34 1 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751792041 8 89094394 GAC G 300 PASS MMP16 CCDS6246.1 r.? - - Del intronic D 89094394 89094410 2 10 268.108 - - 7 1 - MMP16|CCDS6246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MMP16|CCDS6246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 7 7 7 7 0 0 ./. 1 4 2 5 49 67 49 67 2 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751797365 8 100430023 G GT 300 PASS VPS13B CCDS6280.1 r.? - - Ins intronic I 100430023 100430033 1 12 265.098 - - 9 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 9 7 9 8 0 0 ./. 3 2 3 3 50 61 51 61 3 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751801408 8 108968946 G GA 600 PASS RSPO2 CCDS6307.1 r.? - - Ins intronic I 108968946 108968949 1 35 532.001 - - 2 1 1 RSPO2|CCDS6307.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RSPO2|CCDS6307.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 8 18 8 18 0 0 ./. 4 6 6 11 59 64 59 64 6 11 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751801467 8 109096572 C CT 600 PASS RSPO2 CCDS6307.1 r.? - - Ins upstream I 109096572 109096573 1 36 532.603 - - 0 1 1 RSPO2|CCDS6307.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 RSPO2|CCDS6307.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 15 10 15 10 0 0 ./. 5 5 8 6 52 53 52 53 8 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751803817 8 114952236 TG T 300 PASS - - - - - Del - D 114952236 114952238 1 6 260.281 - - 1 1 1 - - ./. 0 0 0 0 5 13 5 13 0 0 ./. 5 0 6 0 46 52 46 52 6 0 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751806847 8 121470187 AG A 420 PASS MTBP CCDS6333.1 r.? - - Del intronic D 121470187 121470189 1 20 366.802 - - 1 1 1 MTBP|CCDS6333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MTBP|CCDS6333.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 4 3 8 3 69 51 69 51 8 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751807011 8 121855841 AG A 269 PASS - - - - - Del - D 121855841 121855843 1 6 253.056 - - 1 1 - - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 5 0 11 0 54 57 54 57 11 0 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751810538 8 128801528 G GA 420 PASS - - - - - Ins - I 128801528 128801538 1 20 371.016 - - 9 1 1 - - ./. 0 0 0 0 11 14 11 14 0 0 ./. 4 3 5 3 63 67 63 67 5 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751810585 8 128883205 GCCT G 269 PASS PVT1 CCDS3617.1 r.? - - Del intronic D 128883205 128883225 3 12 268.71 - - 6 1 1 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 PVT1|CCDS3617.1|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 11 9 11 9 0 0 ./. 2 3 3 3 67 50 67 50 3 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751812895 8 134563835 AAGAAAGAAAGAAAGAAAGAAAGAAAG A 337 PASS ST3GAL1 CCDS6373.1 r.? - - Del intronic D 134563835 134563864 26 12 323.174 - - 1 1 - ST3GAL1|CCDS6373.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ST3GAL1|CCDS6373.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 12 6 12 6 0 0 ./. 5 1 0 0 50 35 50 35 5 1 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751816708 8 143494712 ACACACGCAGACCCACACACACTCACACGCACACACACCACACATTCACACACACTCCTGCAATGCACACACGCAGACCCACACACACTCACACGCACACACACCACACATTCACACACACTCCTGCAATGCACACACGCAGACCCACACACACTCACACGCACACACACCACACATTCACACACTCCCGCAATGCACACATGCAGACCCACACACACACGTGCACACACCACACATTCACACACATTCCTGCAATGCACACACACAGACCCACACACACACTCTCACACACGCACACACACCACACAGTCACACACCCCTGCAATGCACACACGCACACACACATCTCACACAGCACACACACCACACAGTCACACACTCCTGAAATACACACAAGCAGACACACACGCACACACACCACACATTCACACACTCCTGAAATACACACACATGCACAGACACCCACATACGCACACGCACACACCACTCATTCACATTCTCTCACACACACATATGCACAGACATGCAGCATATGCACATACGTTCTCACACATACATGCACAGACATGTACACAGCACATGCAACACAGACACACACATTCTCATACACATGCACATGCTCCCTGAATAACACGTGCAGACACACAGTGCATGCACACACATATTTCTCACAGCCATGCACACACTCCCTTACACACATGCACAAATATCCCACACACAGCTCATGCACACATGCATGTTTTCACACAATGCACACACTCCCTCACATGCACATTCACACAGACACACGTTCCCACATGCATGTACACACTCCCCACACACATGAACACACCTCACAGAGTGCATGCACATGCACTCCCTTACATGCACAGACACGTGTGTTCACACATGCACACACTCCCTCACACAAGACATGCATGTTCTCACATACATGCACACACTCCCTCATATGCACAGAGATTCATGTT A 261 PASS - - - - - Del - D 143494712 143495685 967 30 481.149 - - 1 1 - - - ./. 0 0 0 0 8 3 8 3 0 0 ./. 5 4 0 0 54 42 59 46 5 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751817474 8 145076751 GA G 780 PASS - - - - - Del - D 145076751 145076761 1 54 695.997 - - 9 1 1 - - ./. 0 0 0 0 13 12 13 12 0 0 ./. 8 5 10 8 74 63 74 63 10 8 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751840401 9 95032087 TA T 360 PASS IARS CCDS6694.1 r.? - - Del intronic D 95032087 95032089 1 15 324.791 - - 1 1 1 IARS|CCDS6694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IARS|CCDS6694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 6 11 6 11 0 0 ./. 4 2 5 3 19 13 19 13 5 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751855290 9 139940383 AGCAGCAGCC A 348 PASS NPDC1 CCDS7024.1 r.264_272delGGCUGCUGC c.50_58delGGCTGCTGC p.R17_L19delRLL Del inframe D 139940383 139940406 9 48 647.173 - - 2 1 - NPDC1|CCDS7024.1|r.264_272delGGCUGCUGC|c.50_58delGGCTGCTGC|p.R17_L19delRLL|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 NPDC1|CCDS7024.1|r.264_272delGGCUGCUGC|c.50_58delGGCTGCTGC|p.R17_L19delRLL|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 14 11 14 11 0 0 ./. 7 5 9 8 35 32 35 32 9 8 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751859976 X 19801862 TA T 420 PASS SH3KBP1 CCDS14193.1 r.? - - Del intronic D 19801862 19801872 1 20 377.255 - - 9 1 1 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SH3KBP1|CCDS14193.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 18 19 18 0 0 ./. 4 3 7 4 22 23 22 23 7 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751862814 X 31514123 A AT 420 PASS DMD CCDS14233.1 r.? - - Ins intronic I 31514123 31514130 1 18 374.847 - - 6 1 1 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DMD|CCDS14233.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 15 10 15 0 0 ./. 2 5 2 5 22 23 23 23 2 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751863861 X 35944837 T TC 720 PASS CXorf22 CCDS14237.2 r.? - - Ins intronic I 35944837 35944842 1 48 642.595 - - 4 1 1 CXorf22|CCDS14237.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CXorf22|CCDS14237.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 10 9 10 9 0 0 ./. 7 5 11 6 27 24 27 24 11 6 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751865312 X 41953954 AT A 420 PASS - - - - - Del - D 41953954 41953962 1 20 378.46 - - 7 1 1 - - ./. 0 0 0 0 16 5 16 5 0 0 ./. 4 3 4 5 29 26 29 26 4 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751866041 X 45227072 ACT A 660 PASS - - - - - Del - D 45227072 45227077 2 22 589.648 - - 2 1 1 - - ./. 0 0 0 0 14 10 14 10 0 0 ./. 1 10 2 11 22 20 22 20 2 11 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751868856 X 57485643 G GA 600 PASS FAAH2 CCDS14375.1 r.? - - Ins intronic I 57485643 57485647 1 35 535.496 - - 3 1 1 FAAH2|CCDS14375.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAAH2|CCDS14375.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 9 13 9 0 0 ./. 4 6 7 9 24 32 24 32 7 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751871789 X 76232753 G GT 420 PASS - - - - - Ins - I 76232753 76232757 1 14 374.847 - - 3 1 1 - - ./. 0 0 0 0 6 8 6 8 0 0 ./. 1 6 1 9 9 24 9 24 1 9 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751871896 X 76861543 CAATAACAAGTAATGAGATCAAAGTAATAA C 261 PASS ATRX CCDS14434.1 r.? - - Del intronic D 76861543 76861573 29 30 487.365 - - 1 1 1 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 7 16 7 0 0 ./. 5 4 4 3 15 18 15 19 5 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751871921 X 76958107 GA G 360 PASS ATRX CCDS14434.1 r.? - - Del intronic D 76958107 76958117 1 15 324.91 - - 9 1 1 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRX|CCDS14434.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 9 14 9 14 0 0 ./. 2 4 5 5 29 24 29 24 5 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751872408 X 78953094 TG T 389 PASS - - - - - Del - D 78953094 78953096 1 18 374.245 - - 1 1 1 - - ./. 0 0 0 0 13 9 13 9 0 0 ./. 5 2 5 3 19 23 19 23 5 3 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751872876 X 80645803 CTGAGCATGTGTGAATGCAGAG C 261 PASS - - - - - Del - D 80645803 80645829 21 30 487.365 - - 1 1 1 - - ./. 0 0 0 0 13 7 13 7 0 0 ./. 5 4 4 3 11 19 12 20 5 4 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751872943 X 81137976 A AT 420 PASS - - - - - Ins - I 81137976 81137986 1 18 373.643 - - 9 1 1 - - ./. 0 0 0 0 11 13 11 13 0 0 ./. 2 5 3 5 21 27 22 27 3 5 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751879936 X 113773691 TTAAGTCCTTACAAAAAAAACAGAGAAGTATAAATGACTTTATAATTGTACATTCCTTGTCCTTTCTTTTCTTAATTACTATAAAAGCAATTGTGTTAAATATGCATATAAGTATACTTTTGGCCATATAATATTA T 261 PASS - - - - - Del - D 113773691 113773827 135 24 487.365 - - 1 1 1 - - ./. 0 0 0 0 7 14 7 14 0 0 ./. 2 7 0 0 12 14 14 21 2 7 1 1 1 1 1 1 1 1 2731394 PD20401a PD20401b 2751888797 X 152174430 AAG A 300 PASS - - - - - Del - D 152174430 152174445 2 12 270.758 - - 7 1 1 - - ./. 0 0 0 0 10 11 10 11 0 0 ./. 3 2 4 2 24 16 24 16 4 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791403390 1 2065844 AC A 900 PASS PRKCZ CCDS37.1 r.? - - Del intronic D 2065844 2065846 1 70 801.633 - - 1 1 1 PRKCZ|CCDS37.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PRKCZ|CCDS37.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 23 17 23 0 0 ./. 6 9 8 10 31 30 31 30 8 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791411794 1 17940976 C CAG 840 PASS ARHGEF10L CCDS182.1 r.? - - Ins intronic I 17940976 17940980 2 63 731.333 - - 1 1 1 ARHGEF10L|CCDS182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGEF10L|CCDS182.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 19 23 21 0 0 ./. 8 6 10 9 32 27 33 27 10 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791416629 1 26681745 CT C 780 PASS AIM1L ENST00000374207 r.? - - Del upstream D 26681745 26681747 1 54 694.146 - - 1 1 1 AIM1L|ENST00000374207|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 AIM1L|ENST00000374207|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 17 18 17 18 0 0 ./. 5 8 5 9 20 25 20 25 5 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791417197 1 27584174 T TA 830 PASS WDTC1 CCDS296.1 r.? - - Ins intronic I 27584174 27584176 1 63 738.558 - - 1 1 1 WDTC1|CCDS296.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 WDTC1|CCDS296.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 16 21 18 0 0 ./. 8 6 13 8 40 32 41 32 13 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791417471 1 28148873 T TC 900 PASS STX12 CCDS310.1 r.989_990insc c.? p.? Ins 3'UTR variant I 28148873 28148875 1 52 792 - - 1 1 1 STX12|CCDS310.1|r.989_990insc|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 STX12|CCDS310.1|r.989_990insc|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 14 28 14 28 0 0 ./. 12 3 16 5 38 21 39 21 16 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791420617 1 34032266 TA T 1109 PASS CSMD2 CCDS380.1 r.? - - Del intronic D 34032266 34032268 1 104 1015.4 - - 1 1 1 CSMD2|CCDS380.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CSMD2|CCDS380.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 32 28 32 0 0 ./. 7 12 10 13 23 48 23 48 10 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791421726 1 36487485 C CT 300 PASS EIF2C3 CCDS399.1 r.? - - Ins intronic I 36487485 36487495 1 12 264.201 - - 9 1 1 EIF2C3|CCDS399.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 EIF2C3|CCDS399.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 20 28 20 0 0 ./. 2 3 3 4 42 48 42 49 3 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791421896 1 36746904 TC T 900 PASS THRAP3 CCDS405.1 r.? - - Del intronic D 36746904 36746906 1 70 801.633 - - 1 1 1 THRAP3|CCDS405.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 THRAP3|CCDS405.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 20 26 20 0 0 ./. 9 6 10 9 41 38 41 38 10 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791423413 1 39809695 G GAGA 660 PASS MACF1 CCDS436.1 r.? - - Ins intronic I 39809695 39809700 3 42 567.996 - - 1 1 1 MACF1|CCDS436.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MACF1|CCDS436.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 25 19 25 0 0 ./. 6 5 9 9 42 35 42 35 9 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791425416 1 43687252 AACAGGCT A 464 PASS ENSG00000164012 ENST00000372492 r.? - - Del intronic D 43687252 43687263 7 56 854.473 - - 1 1 1 ENSG00000164012|ENST00000372492|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000164012|ENST00000372492|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 29 18 29 0 0 ./. 3 13 4 13 20 43 20 43 4 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791427222 1 46704715 TC T 900 PASS - - - - - Del - D 46704715 46704721 1 72 801.633 - - 5 1 1 - - ./. 0 0 0 0 27 27 27 27 0 0 ./. 7 8 10 9 34 31 34 31 10 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791429262 1 51654146 T TTG 1200 PASS - - - - - Ins - I 51654146 51654150 2 117 1041.75 - - 1 1 1 - - ./. 0 0 0 0 30 25 30 25 0 0 ./. 12 8 15 10 43 33 45 34 15 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791437632 1 68882398 AATATAAGTC A 406 PASS - - - - - Del - D 68882398 68882410 9 60 748.191 - - 1 1 1 - - ./. 0 0 0 0 31 21 31 21 0 0 ./. 9 5 10 5 43 29 43 29 10 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791437706 1 69039953 TGGTTTGAATATTGTCCTCAAAAGTTCCTGTATCACAAACTAAATAGTCATTGGAATACTATTAAGA T 290 PASS - - - - - Del - D 69039953 69040022 66 36 534.422 - - 1 1 1 - - ./. 0 0 0 0 31 30 31 30 0 0 ./. 5 5 0 0 25 24 30 29 5 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791437941 1 69767236 TA T 780 PASS - - - - - Del - D 69767236 69767238 1 56 694.146 - - 1 1 1 - - ./. 0 0 0 0 23 32 23 32 0 0 ./. 6 7 8 12 29 50 29 50 8 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791439263 1 73051597 TTTATAAATA T 290 PASS - - - - - Del - D 73051597 73051608 9 32 534.422 - - 1 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 3 7 5 8 26 44 26 44 5 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791440098 1 74850279 CT C 1200 PASS TNNI3K CCDS44161.1 r.? - - Del intronic D 74850279 74850281 1 117 1068.84 - - 1 1 1 TNNI3K|CCDS44161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNNI3K|CCDS44161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 38 29 38 0 0 ./. 8 12 12 15 40 46 40 46 12 15 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791444068 1 84071249 TTAAATAACTTTGA T 435 PASS - - - - - Del - D 84071249 84071263 13 70 801.633 - - 1 1 1 - - ./. 0 0 0 0 29 26 29 26 0 0 ./. 9 6 10 6 35 27 35 27 10 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791445037 1 86150009 CAT C 840 PASS ZNHIT6 CCDS707.1 r.? - - Del intronic D 86150009 86150013 2 60 748.191 - - 1 1 1 ZNHIT6|CCDS707.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNHIT6|CCDS707.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 19 18 19 0 0 ./. 5 9 7 10 30 32 30 32 7 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791445125 1 86311599 G GA 960 PASS COL24A1 CCDS41353.1 r.? - - Ins intronic I 86311599 86311603 1 81 844.84 - - 3 1 1 COL24A1|CCDS41353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 COL24A1|CCDS41353.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 35 28 35 0 0 ./. 8 8 8 10 31 40 31 40 8 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791447519 1 92037034 AG A 900 PASS - - - - - Del - D 92037034 92037036 1 66 798.021 - - 1 1 1 - - ./. 0 0 0 0 21 26 21 26 0 0 ./. 10 5 13 7 38 31 38 31 13 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791448832 1 94137013 TGCCAATACCCGTCAG T 348 PASS BCAR3 CCDS745.1 r.? - - Del intronic D 94137013 94137039 15 48 637.092 - - 1 1 1 BCAR3|CCDS745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BCAR3|CCDS745.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 20 27 20 0 0 ./. 5 7 5 9 33 26 33 26 5 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791449055 1 94693274 T TA 540 PASS ARHGAP29 CCDS748.1 r.? - - Ins intronic I 94693274 94693278 1 30 474.959 - - 3 1 1 ARHGAP29|CCDS748.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARHGAP29|CCDS748.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 17 20 18 0 0 ./. 5 4 8 11 37 36 37 37 8 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791450438 1 98037122 AG A 480 PASS DPYD CCDS30777.1 r.? - - Del intronic D 98037122 98037124 1 24 427.538 - - 1 1 1 DPYD|CCDS30777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPYD|CCDS30777.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 28 24 28 0 0 ./. 3 5 8 5 21 30 21 30 8 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791451425 1 100560921 AC A 540 PASS SASS6 CCDS764.1 r.? - - Del intronic D 100560921 100560924 1 28 479.776 - - 2 1 1 SASS6|CCDS764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SASS6|CCDS764.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 18 22 18 0 0 ./. 3 6 9 13 33 45 33 45 9 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791452015 1 101697714 CCTC CTG 937 PASS S1PR1 CCDS777.1 r.? - - Complex upstream DI 101697715 101697717 3 80 0 - - 0 1 1 S1PR1|CCDS777.1|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 S1PR1|CCDS777.1|r.?|-|-|protein_coding:indel:5KB_upstream_variant|SO:0000010:SO:1000032:SO:0001635 ./. 0 0 0 0 9 16 14 26 0 0 ./. 7 9 0 0 16 25 21 38 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791452384 1 102524126 GC G 720 PASS - - - - - Del - D 102524126 102524129 1 49 637.092 - - 2 1 1 - - ./. 0 0 0 0 36 22 36 22 0 0 ./. 6 6 7 6 33 27 33 27 7 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791453993 1 106278966 TGA T 397 PASS - - - - - Del - D 106278966 106278984 2 20 373.493 - - 8 1 1 - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 3 4 3 5 38 55 38 55 3 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791455685 1 109964063 CA C 480 PASS PSMA5 CCDS799.1 r.? - - Del intronic D 109964063 109964066 1 24 424.527 - - 2 1 1 PSMA5|CCDS799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSMA5|CCDS799.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 20 20 20 0 0 ./. 5 3 8 10 38 33 38 33 8 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791464036 1 143985009 TC T 441 PASS - - - - - Del - D 143985009 143985011 1 60 801.031 - - 1 1 1 - - ./. 0 0 0 0 38 50 38 50 0 0 ./. 11 4 15 5 117 107 117 107 15 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791464416 1 144859886 AT A 1047 PASS PDE4DIP CCDS30824.1 r.6387delA c.6197delA p.N2066fs*56 Del frameshift D 144859886 144859889 1 110 1015.4 - - 2 1 1 PDE4DIP|CCDS30824.1|r.6387delA|c.6197delA|p.N2066fs*56|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 PDE4DIP|CCDS30824.1|r.6387delA|c.6197delA|p.N2066fs*56|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 47 57 47 57 0 0 ./. 10 9 20 15 106 121 106 121 20 15 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791464709 1 145089999 CGTT C 623 PASS - - - - - Del - D 145089999 145090005 3 63 748.191 - - 1 1 1 - - ./. 0 0 0 0 67 82 67 82 0 0 ./. 8 6 8 7 151 162 151 162 8 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791465287 1 145651246 T TA 329 PASS RNF115 CCDS922.1 r.? - - Ins intronic I 145651246 145651254 1 15 316.439 - - 7 1 1 RNF115|CCDS922.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RNF115|CCDS922.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 13 31 13 31 0 0 ./. 2 4 3 4 75 75 76 76 3 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791469221 1 151468921 TA T 269 PASS - - - - - Del - D 151468921 151468927 1 6 266.609 - - 5 1 1 - - ./. 0 0 0 0 2 33 2 33 0 0 ./. 0 5 0 23 0 82 0 83 0 23 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791471651 1 155008104 T TA 600 PASS DCST2 CCDS1082.2 r.? - - Ins upstream I 155008104 155008112 1 20 516.962 - - 7 1 1 DCST2|CCDS1082.2|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 DCST1|CCDS1083.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 27 26 27 0 0 ./. 9 1 16 3 81 70 84 71 16 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791472697 1 156081149 AG A 1740 PASS LMNA CCDS1129.1 r.? - - Del upstream D 156081149 156081151 1 228 1540.19 - - 1 1 1 LMNA|CCDS1129.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 LMNA|CCDS1131.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 21 28 21 0 0 ./. 11 18 15 24 65 74 65 74 15 24 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791477614 1 164753314 AT A 989 PASS PBX1 CCDS1246.1 r.? - - Del intronic D 164753314 164753316 1 84 908.517 - - 1 1 1 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PBX1|CCDS1246.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 23 26 23 0 0 ./. 11 6 14 8 74 49 74 49 14 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791478008 1 165589239 TTC T 360 PASS - - - - - Del - D 165589239 165589257 2 15 320.653 - - 8 1 - - - ./. 0 0 0 0 18 26 18 26 0 0 ./. 4 2 4 2 46 65 46 65 4 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791479002 1 167330358 GAATCTTTATATAATTTTACTTCTGCTTTTCCTATTTAGATGCTGTT G 435 PASS POU2F1 CCDS1259.1 r.? - - Del intronic D 167330358 167330405 46 72 801.633 - - 1 1 1 POU2F1|CCDS1259.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POU2F1|CCDS1259.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 27 20 27 0 0 ./. 8 7 4 4 62 71 66 74 8 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791479022 1 167355304 CAAAATTTA C 464 PASS POU2F1 CCDS1259.1 r.? - - Del intronic D 167355304 167355316 8 72 855.075 - - 1 1 1 POU2F1|CCDS1259.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POU2F1|CCDS1259.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 38 17 38 0 0 ./. 5 11 6 14 67 84 67 84 6 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791480020 1 168991744 TG T 780 PASS - - - - - Del - D 168991744 168991748 1 50 693.544 - - 3 1 1 - - ./. 0 0 0 0 15 42 15 42 0 0 ./. 4 9 4 13 42 97 42 97 4 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791480998 1 170942257 TAC T 269 PASS C1orf129 CCDS41436.1 r.? - - Del intronic D 170942257 170942274 2 12 267.211 - - 8 1 - C1orf129|CCDS41436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C1orf129|CCDS41436.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 22 20 22 0 0 ./. 3 2 3 2 46 25 46 25 3 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791482843 1 174208999 T TC 1620 PASS RABGAP1L CCDS1314.1 r.? - - Ins intronic I 174208999 174209001 1 190 1426.68 - - 1 1 1 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RABGAP1L|CCDS1314.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 36 32 36 32 0 0 ./. 9 18 17 27 64 85 66 85 17 27 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791484214 1 176683062 TA T 1380 PASS PAPPA2 CCDS41438.1 r.? - - Del intronic D 176683062 176683065 1 144 1229.17 - - 2 1 1 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PAPPA2|CCDS41438.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 12 31 12 0 0 ./. 15 8 19 12 67 75 67 75 19 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791484853 1 178204734 CGT C 420 PASS RASAL2 CCDS1321.1 r.? - - Del intronic D 178204734 178204753 2 18 369.881 - - 9 1 - RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RASAL2|CCDS1321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 15 32 15 0 0 ./. 2 5 2 5 66 62 66 62 2 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791485256 1 178750147 T TTA 600 PASS RALGPS2 CCDS1325.1 r.? - - Ins intronic I 178750147 178750163 2 35 520.575 - - 7 1 - RALGPS2|CCDS1325.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RALGPS2|CCDS1325.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 30 23 30 0 0 ./. 4 6 6 8 66 74 69 76 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791485987 1 179538564 TG T 621 PASS NPHS2 CCDS1331.1 r.? - - Del intronic D 179538564 179538566 1 49 638.296 - - 1 1 1 NPHS2|CCDS1331.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NPHS2|CCDS1331.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 17 31 17 0 0 ./. 6 6 9 8 75 40 75 40 9 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791487350 1 181632356 GTAAAT G 1074 PASS CACNA1E ENST00000367573 r.? - - Del intronic D 181632356 181632362 5 126 1122.29 - - 1 1 1 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1E|ENST00000367573|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 22 32 22 0 0 ./. 8 13 10 16 46 57 46 57 10 16 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791491487 1 188795285 G GT 600 PASS - - - - - Ins - I 188795285 188795288 1 27 528.401 - - 2 1 1 - - ./. 0 0 0 0 27 37 28 37 0 0 ./. 2 8 7 10 61 79 61 80 7 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791493582 1 192516575 A AT 4080 PASS - - - - - Ins - I 192516575 192516583 1 1216 3584.1 - - 7 1 1 - - ./. 0 0 0 0 34 29 35 32 0 0 ./. 37 31 53 35 86 70 86 71 53 35 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791494062 1 193267967 C CT 358 PASS - - - - - Ins - I 193267967 193267969 1 14 369.881 - - 1 1 1 - - ./. 0 0 0 0 26 12 26 12 0 0 ./. 1 6 3 6 62 30 62 31 3 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791496510 1 197987850 AAG A 300 PASS - - - - - Del - D 197987850 197987868 2 12 267.211 - - 8 1 1 - - ./. 0 0 0 0 22 16 22 16 0 0 ./. 3 2 3 2 49 46 49 46 3 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791498078 1 200374689 G GA 960 PASS ZNF281 CCDS1402.1 r.? - - Ins downstream I 200374689 200374697 1 65 844.84 - - 7 1 1 ZNF281|CCDS1402.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ZNF281|CCDS1402.1|r.?|-|-|protein_coding:insertion:5KB_downstream_variant|SO:0000010:SO:0000667:SO:0001633 ./. 0 0 0 0 24 31 24 31 0 0 ./. 4 12 7 18 85 79 85 79 7 18 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791498947 1 201528920 CCTT C 1405 PASS - - - - - Del - D 201528920 201528924 3 192 1385.28 - - 1 1 1 - - ./. 0 0 0 0 17 26 17 26 0 0 ./. 15 11 18 14 51 48 51 48 18 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791500755 1 203871839 C CT 749 PASS - - - - - Ins - I 203871839 203871844 1 56 686.922 - - 4 1 1 - - ./. 0 0 0 0 29 19 29 20 0 0 ./. 7 6 9 11 89 68 89 68 9 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791502748 1 207184894 AT A 1020 PASS - - - - - Del - D 207184894 207184902 1 84 898.884 - - 7 1 - - - ./. 0 0 0 0 17 27 17 27 0 0 ./. 11 6 20 14 55 62 55 62 20 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791503048 1 207858373 GA G 360 PASS ENSG00000249058 ENST00000508064 r.? - - Del intronic D 207858373 207858377 1 15 320.653 - - 3 1 1 ENSG00000249058|ENST00000508064|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000249058|ENST00000508064|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 39 31 39 0 0 ./. 2 4 4 5 73 74 73 74 4 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791503939 1 209678404 CTAT C 838 PASS - - - - - Del - D 209678404 209678414 3 72 801.633 - - 3 1 1 - - ./. 0 0 0 0 36 23 36 23 0 0 ./. 7 8 7 11 72 69 72 69 7 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791511677 1 222449128 GC G 840 PASS - - - - - Del - D 222449128 222449130 1 55 743.374 - - 1 1 1 - - ./. 0 0 0 0 20 38 20 38 0 0 ./. 10 4 16 6 78 69 78 69 16 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791511705 1 222516188 CATTCTGTTTTCATTCACTCA C 522 PASS - - - - - Del - D 222516188 222516210 20 96 961.357 - - 1 1 1 - - ./. 0 0 0 0 24 32 24 32 0 0 ./. 11 7 12 7 53 73 53 73 12 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791512669 1 224163183 AC A 350 PASS - - - - - Del - D 224163183 224163186 1 100 960.153 - - 2 1 1 - - ./. 0 0 0 0 17 19 17 19 0 0 ./. 9 9 14 9 58 43 58 43 14 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791513321 1 224701065 A AG 300 PASS - - - - - Ins - I 224701065 224701075 1 6 264.201 - - 9 1 - - - ./. 0 0 0 0 11 4 11 4 0 0 ./. 5 0 7 0 21 9 22 9 7 0 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791513825 1 225790789 T TTC 1500 PASS ENAH CCDS31041.1 r.? - - Ins intronic I 225790789 225790791 2 180 1305.95 - - 0 1 1 ENAH|CCDS31041.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENAH|CCDS31041.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 26 22 26 0 0 ./. 14 11 20 15 81 64 81 64 20 15 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791517650 1 231885339 GT G 540 PASS DISC1 CCDS31055.1 r.? - - Del intronic D 231885339 231885347 1 30 480.98 - - 7 1 1 DISC1|CCDS31055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DISC1|CCDS31055.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 23 26 23 0 0 ./. 4 5 6 8 73 63 73 63 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791517973 1 232508018 TG T 780 PASS - - - - - Del - D 232508018 232508023 1 56 693.544 - - 4 1 1 - - ./. 0 0 0 0 26 22 26 22 0 0 ./. 6 7 6 8 46 58 46 58 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791518502 1 233489705 TTG T 420 PASS ENSG00000143674 CCDS1598.1 r.1396+5_1396+6delug c.1135+5_1135+6deltg p.? Del ess splice D 233489705 233489725 2 14 372.891 - - 9 1 1 ENSG00000143674|CCDS1598.1|r.1396+5_1396+6delug|c.1135+5_1135+6deltg|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 ENSG00000143674|CCDS1598.1|r.1396+5_1396+6delug|c.1135+5_1135+6deltg|p.?|protein_coding:CDS:extended_intronic_splice_region:extended_cis_splice_site:deletion:extended_intronic_splice_region_variant:extended_cis_splice_site_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:CGPX06:SO:0000159:SO:CGPX04:SO:CGPX03:SO:0001576 ./. 0 0 0 0 30 29 30 29 0 0 ./. 1 6 2 5 58 77 58 77 2 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791518941 1 234276640 CCTGGGTT C 522 PASS SLC35F3 CCDS1600.1 r.? - - Del intronic D 234276640 234276648 7 99 960.153 - - 1 1 1 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SLC35F3|CCDS1600.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 20 21 20 0 0 ./. 10 8 13 15 52 46 52 46 13 15 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791520987 1 236719471 T TA 569 PASS HEATR1 CCDS31066.1 r.5557_5558insu c.5442_5443insT p.T1815fs*20 Ins frameshift I 236719471 236719473 1 35 527.197 - - 1 1 1 HEATR1|CCDS31066.1|r.5557_5558insu|c.5442_5443insT|p.T1815fs*20|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 HEATR1|CCDS31066.1|r.5557_5558insu|c.5442_5443insT|p.T1815fs*20|protein_coding:CDS:exon:insertion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000667:SO:0001589 ./. 0 0 0 0 20 21 20 21 0 0 ./. 4 6 6 7 51 60 51 60 6 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791521551 1 237494053 G GGA 660 PASS RYR2 ENST00000366574 r.? - - Ins intronic I 237494053 237494056 2 42 574.017 - - 1 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 37 25 38 26 0 0 ./. 6 5 9 6 78 59 78 59 9 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791521633 1 237620677 AT A 840 PASS RYR2 ENST00000366574 r.? - - Del intronic D 237620677 237620683 1 60 748.191 - - 5 1 1 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RYR2|ENST00000366574|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 36 26 36 0 0 ./. 9 5 10 8 60 67 60 67 10 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791522990 1 239872147 CT C 540 PASS CHRM3 CCDS1616.1 r.? - - Del intronic D 239872147 239872152 1 30 480.98 - - 4 1 1 CHRM3|CCDS1616.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 CHRM3|CCDS1616.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 22 23 22 0 0 ./. 5 4 10 4 67 43 67 43 10 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791523149 1 240138589 A AGAAC 358 PASS - - - - - Ins - I 240138589 240138591 4 20 357.238 - - 0 1 1 - - ./. 0 0 0 0 29 11 29 14 0 0 ./. 3 4 0 0 63 42 71 53 3 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791523962 1 241115294 GA G 600 PASS RGS7 CCDS31071.1 r.? - - Del intronic D 241115294 241115297 1 35 534.422 - - 2 1 1 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RGS7|CCDS31071.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 25 26 25 0 0 ./. 6 4 7 10 83 95 83 95 7 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791525232 1 242694597 AC A 840 PASS - - - - - Del - D 242694597 242694599 1 63 748.191 - - 1 1 1 - - ./. 0 0 0 0 29 25 29 25 0 0 ./. 6 8 9 12 65 79 65 79 9 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791525797 1 243559025 TG T 840 PASS SDCCAG8 CCDS31075.1 r.? - - Del intronic D 243559025 243559027 1 60 748.191 - - 1 1 1 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDCCAG8|CCDS31075.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 24 20 24 0 0 ./. 9 5 11 8 80 89 80 89 11 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791528879 1 247519039 TTCACATTCCTGCAGAGGCTCA T 261 PASS - - - - - Del - D 247519039 247519061 21 30 480.98 - - 1 1 1 - - ./. 0 0 0 0 26 24 26 24 0 0 ./. 5 4 2 2 57 41 60 43 5 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791529069 1 247767309 A AATAT 687 PASS OR2G3 CCDS31093.1 r.? - - Ins upstream I 247767309 247767313 4 54 659.829 - - 1 1 1 OR2G3|CCDS31093.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 OR2G3|CCDS31093.1|r.?|-|-|protein_coding:insertion:2KB_upstream_variant|SO:0000010:SO:0000667:SO:0001636 ./. 0 0 0 0 25 28 25 29 0 0 ./. 8 5 9 8 88 86 89 86 9 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791532213 10 4623485 TC T 360 PASS - - - - - Del - D 4623485 4623487 1 16 321.67 - - 1 1 1 - - ./. 0 0 0 0 26 20 26 20 0 0 ./. 3 3 5 3 36 42 36 42 5 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791534066 10 7876566 CAGATTTTCCA C 493 PASS TAF3 CCDS41487.1 r.? - - Del intronic D 7876566 7876578 10 88 913.104 - - 1 1 1 TAF3|CCDS41487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TAF3|CCDS41487.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 29 24 29 0 0 ./. 10 7 10 8 45 44 45 44 10 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791537403 10 13622524 GT G 1260 PASS - - - - - Del - D 13622524 13622527 1 132 1127.35 - - 2 1 1 - - ./. 0 0 0 0 20 17 20 17 0 0 ./. 11 10 13 11 39 36 39 36 13 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791538811 10 16226965 G GTT 389 PASS - - - - - Ins - I 16226965 16226970 2 20 367.555 - - 4 1 1 - - ./. 0 0 0 0 20 31 20 31 0 0 ./. 3 4 4 4 21 25 21 25 4 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791539312 10 17090771 AAAT A 300 PASS CUBN CCDS7113.1 r.? - - Del intronic D 17090771 17090792 3 10 268.56 - - 6 1 - CUBN|CCDS7113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUBN|CCDS7113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 32 15 32 0 0 ./. 1 4 1 4 33 28 33 28 1 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791540820 10 20291780 GACTGTCTC G 290 PASS PLXDC2 CCDS7132.1 r.? - - Del intronic D 20291780 20291790 8 36 537.12 - - 1 1 1 PLXDC2|CCDS7132.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLXDC2|CCDS7132.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 22 22 22 0 0 ./. 5 5 5 7 23 32 23 32 5 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791542424 10 23565243 A AG 660 PASS C10orf67 ENST00000376500 r.? - - Ins intronic I 23565243 23565251 1 36 583.607 - - 7 1 1 C10orf67|ENST00000376500|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C10orf67|ENST00000376500|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 29 26 30 0 0 ./. 3 8 10 11 32 30 32 31 10 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791545182 10 28732571 ATTCATCTTT A 493 PASS - - - - - Del - D 28732571 28732581 9 70 913.104 - - 1 1 1 - - ./. 0 0 0 0 34 20 34 20 0 0 ./. 13 4 16 5 50 33 50 33 16 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791549549 10 36752057 GA G 420 PASS - - - - - Del - D 36752057 36752062 1 20 375.984 - - 4 1 1 - - ./. 0 0 0 0 19 20 19 20 0 0 ./. 3 4 4 6 31 30 31 30 4 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791553859 10 44195027 T TC 480 PASS - - - - - Ins - I 44195027 44195034 1 24 404.409 - - 6 1 1 - - ./. 0 0 0 0 23 8 23 8 0 0 ./. 3 5 0 1 28 24 28 24 3 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791554122 10 44923493 CA C 720 PASS - - - - - Del - D 44923493 44923495 1 45 643.942 - - 1 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 4 8 8 10 37 43 37 43 8 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791558194 10 56728651 AT A 780 PASS PCDH15 ENST00000373957 r.? - - Del intronic D 56728651 56728659 1 36 697.052 - - 7 1 1 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PCDH15|ENST00000373957|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 25 18 25 0 0 ./. 11 2 13 6 28 21 28 21 13 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791562549 10 66583985 CTCTATAACCAC CCCT 406 PASS - - - - - Complex - DI 66583986 66583996 11 63 0 - - 0 1 1 - - ./. 0 0 0 0 22 30 22 30 0 0 ./. 8 6 0 0 68 68 69 68 8 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791566799 10 74913849 AT A 658 PASS ECD CCDS7321.1 r.? - - Del intronic D 74913849 74913851 1 49 644.544 - - 1 1 1 ECD|CCDS7321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ECD|CCDS7321.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 27 32 27 0 0 ./. 6 6 9 10 47 53 47 53 9 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791569531 10 78756366 CAG C 300 PASS KCNMA1 CCDS7352.1 r.? - - Del intronic D 78756366 78756383 2 12 266.754 - - 8 1 1 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNMA1|CCDS7352.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 13 25 13 25 0 0 ./. 2 3 3 4 50 68 50 68 3 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791577045 10 95445494 C CA 269 PASS C10orf4 CCDS7430.1 r.? - - Ins intronic I 95445494 95445504 1 12 264.948 - - 9 1 1 C10orf4|CCDS7430.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C10orf4|CCDS7430.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 29 28 29 0 0 ./. 2 3 0 2 46 28 46 28 2 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791585255 10 116888746 TCTGTA TC 387 PASS ATRNL1 CCDS7592.1 r.? - - Complex intronic DI 116888747 116888751 5 25 0 - - 0 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 33 27 33 27 0 0 ./. 4 4 0 0 27 25 27 25 4 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791585475 10 117512631 GA G 637 PASS ATRNL1 CCDS7592.1 r.? - - Del intronic D 117512631 117512634 1 40 589.026 - - 2 1 1 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ATRNL1|CCDS7592.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 41 23 41 0 0 ./. 4 7 5 11 15 32 15 32 5 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791593823 11 2579152 TTCA T 778 PASS KCNQ1 CCDS7736.1 r.? - - Del intronic D 2579152 2579157 3 63 751.927 - - 1 1 1 KCNQ1|CCDS7736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNQ1|CCDS7736.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 22 17 22 0 0 ./. 8 6 9 8 34 29 34 29 9 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791595101 11 4990383 AG A 780 PASS MMP26 CCDS7752.1 r.? - - Del intronic D 4990383 4990386 1 50 699.336 - - 2 1 1 MMP26|CCDS7752.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MMP26|CCDS7752.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 25 16 25 0 0 ./. 9 4 10 7 41 35 41 35 10 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791595741 11 6039449 C CA 360 PASS - - - - - Ins - I 6039449 6039453 1 7 319.158 - - 3 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 0 6 7 10 25 43 25 43 7 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791601412 11 18434276 CA C 780 PASS LDHC CCDS7840.1 r.179delA c.13delA p.K5fs*4 Del frameshift D 18434276 18434279 1 26 699.336 - - 2 1 1 LDHC|CCDS7840.1|r.179delA|c.13delA|p.K5fs*4|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 LDHC|CCDS7840.1|r.179delA|c.13delA|p.K5fs*4|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 20 25 20 25 0 0 ./. 1 12 3 13 28 36 28 36 3 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791601750 11 18927168 TTGAGATTTCTTCTTCTATACTCTGC T 493 PASS MRGPRX1 ENST00000412783 r.? - - Del intronic D 18927168 18927196 25 88 913.312 - - 1 1 1 MRGPRX1|ENST00000412783|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRGPRX1|ENST00000412783|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 28 23 28 0 0 ./. 7 10 7 10 38 41 38 41 7 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791606252 11 28441645 AG A 660 PASS - - - - - Del - D 28441645 28441647 1 36 590.542 - - 1 1 1 - - ./. 0 0 0 0 22 40 22 40 0 0 ./. 3 8 6 10 35 49 35 49 6 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791610364 11 38063647 TTAA T 687 PASS - - - - - Del - D 38063647 38063651 3 56 699.336 - - 1 1 1 - - ./. 0 0 0 0 18 32 18 32 0 0 ./. 6 7 8 7 40 43 40 43 8 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791610618 11 38713039 CAT C 300 PASS - - - - - Del - D 38713039 38713055 2 12 268.373 - - 7 1 1 - - ./. 0 0 0 0 26 16 26 16 0 0 ./. 3 2 3 2 48 37 48 37 3 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791612685 11 43079536 T TG 540 PASS - - - - - Ins - I 43079536 43079538 1 28 478.737 - - 1 1 1 - - ./. 0 0 0 0 20 33 21 33 0 0 ./. 6 3 8 5 41 33 41 33 8 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791612686 11 43082199 G GA 300 PASS - - - - - Ins - I 43082199 43082209 1 6 265.965 - - 9 1 1 - - ./. 0 0 0 0 25 24 25 24 0 0 ./. 0 5 0 5 29 46 29 46 0 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791612920 11 43507768 CAAA C 538 PASS TTC17 CCDS31466.1 r.? - - Del intronic D 43507768 43507774 3 35 537.951 - - 5 1 1 TTC17|CCDS31466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC17|CCDS31466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 29 28 29 0 0 ./. 4 6 4 7 25 37 25 37 4 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791616841 11 55182769 CAGA C 1138 PASS - - - - - Del - D 55182769 55182777 3 117 1075.9 - - 2 1 1 - - ./. 0 0 0 0 27 34 27 34 0 0 ./. 12 8 16 8 49 44 49 44 16 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791617080 11 55895355 TG T 1200 PASS OR8H3 CCDS31519.1 r.? - - Del downstream D 55895355 55895357 1 96 1075.3 - - 1 1 1 OR8H3|CCDS31519.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 OR8H3|CCDS31519.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 28 36 28 36 0 0 ./. 5 15 8 20 35 58 35 58 8 20 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791617701 11 57289317 AC A 600 PASS - - - - - Del - D 57289317 57289319 1 36 536.747 - - 1 1 - - - ./. 0 0 0 0 20 20 20 20 0 0 ./. 5 5 8 6 43 35 43 35 8 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791617831 11 57467844 AT A 660 PASS ZDHHC5 CCDS7965.1 r.3852delU c.? p.? Del 3'UTR variant D 57467844 57467852 1 42 591.746 - - 7 1 1 ZDHHC5|CCDS7965.1|r.3852delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ZDHHC5|CCDS7965.1|r.3852delU|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 23 17 23 17 0 0 ./. 6 5 8 5 19 34 19 34 8 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791618023 11 57801310 CTA C 480 PASS OR9Q1 CCDS31543.1 r.? - - Del intronic D 57801310 57801318 2 21 430.361 - - 3 1 1 OR9Q1|CCDS31543.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 OR9Q1|CCDS31543.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 41 22 41 0 0 ./. 2 6 3 8 25 27 25 27 3 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791618406 11 58823085 TAC T 300 PASS - - - - - Del - D 58823085 58823100 2 10 260.546 - - 7 1 - - - ./. 0 0 0 0 16 18 16 18 0 0 ./. 4 1 4 1 28 25 28 25 4 1 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791624012 11 69368499 CCCTGGGTCTTACTTTGAGGCCT C 1624 PASS - - - - - Del - D 69368499 69368524 22 760 2998.68 - - 1 1 1 - - ./. 0 0 0 0 23 22 23 22 0 0 ./. 19 37 19 36 188 227 190 228 21 37 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791624301 11 69696504 G GTC 540 PASS - - - - - Ins - I 69696504 69696509 2 30 472.716 - - 2 1 1 - - ./. 0 0 0 0 19 17 19 18 0 0 ./. 5 4 9 6 93 81 94 81 9 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791624725 11 70235520 TG T 900 PASS AP000487.1 ENST00000500185 r.? - - Del intronic D 70235520 70235522 1 72 806.926 - - 1 1 1 AP000487.1|ENST00000500185|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AP000487.1|ENST00000500185|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 25 19 25 0 0 ./. 7 8 10 11 75 79 75 79 10 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791627002 11 73484666 C CT 269 PASS - - - - - Ins - I 73484666 73484676 1 6 258.74 - - 9 1 1 - - ./. 0 0 0 0 37 28 38 28 0 0 ./. 5 0 8 0 108 96 112 99 8 0 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791628189 11 75004711 A AG 360 PASS ARRB1 CCDS44684.1 r.? - - Ins intronic I 75004711 75004714 1 15 316.75 - - 2 1 1 ARRB1|CCDS44684.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ARRB1|CCDS44684.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 14 24 14 24 0 0 ./. 4 2 6 4 87 75 88 76 6 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791637704 11 97704772 TGG T 420 PASS - - - - - Del - D 97704772 97704776 2 18 376.565 - - 3 1 1 - - ./. 0 0 0 0 38 11 38 11 0 0 ./. 5 2 9 3 21 10 21 10 9 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791639509 11 101973855 AC A 478 PASS - - - - - Del - D 101973855 101973857 1 28 475.727 - - 1 1 1 - - ./. 0 0 0 0 21 27 21 27 0 0 ./. 3 6 4 8 21 23 21 23 4 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791642751 11 110318798 CAG C 600 PASS FDX1 CCDS8344.1 r.? - - Del intronic D 110318798 110318801 2 36 537.951 - - 1 1 1 FDX1|CCDS8344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FDX1|CCDS8344.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 34 25 34 25 0 0 ./. 5 5 8 5 36 20 36 20 8 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791645039 11 116747786 GTC G 480 PASS SIK3 CCDS8379.1 r.? - - Del intronic D 116747786 116747792 2 21 429.758 - - 2 1 1 SIK3|CCDS8379.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SIK3|CCDS8379.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 18 27 18 0 0 ./. 6 2 6 2 27 13 27 13 6 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791646504 11 119615841 GT G 300 PASS - - - - - Del - D 119615841 119615843 1 12 268.975 - - 1 1 1 - - ./. 0 0 0 0 22 18 22 18 0 0 ./. 3 2 8 6 17 17 17 17 8 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791647551 11 122538859 AT A 480 PASS UBASH3B CCDS31694.1 r.? - - Del intronic D 122538859 122538868 1 21 430.361 - - 8 1 1 UBASH3B|CCDS31694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UBASH3B|CCDS31694.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 21 22 21 0 0 ./. 6 2 12 6 26 25 26 25 12 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791648180 11 123824725 CATGA C 321 PASS - - - - - Del - D 123824725 123824735 4 24 484.156 - - 2 1 1 - - ./. 0 0 0 0 21 24 21 24 0 0 ./. 2 7 2 8 10 23 10 23 2 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791648557 11 124647053 CT C 1380 PASS C11orf61 CCDS8454.1 r.? - - Del intronic D 124647053 124647055 1 156 1237.29 - - 1 1 1 C11orf61|CCDS8454.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C11orf61|CCDS8454.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 26 31 26 0 0 ./. 11 12 16 14 35 29 35 29 16 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791652725 12 1042734 CA C 989 PASS RAD52 CCDS8507.2 r.? - - Del intronic D 1042734 1042737 1 88 913.99 - - 2 1 1 RAD52|CCDS8507.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 RAD52|CCDS8507.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 34 31 34 0 0 ./. 7 10 11 12 37 41 37 41 11 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791653080 12 1552076 A AT 300 PASS ERC1 CCDS8508.1 r.? - - Ins intronic I 1552076 1552086 1 10 265.987 - - 9 1 1 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ERC1|CCDS8508.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 32 24 33 0 0 ./. 4 1 6 1 51 48 54 48 6 1 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791653445 12 2343307 AGC A 929 PASS CACNA1C CCDS44794.1 r.? - - Del intronic D 2343307 2343310 2 81 855.976 - - 1 1 1 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CACNA1C|CCDS44794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 24 26 24 0 0 ./. 8 8 9 9 43 31 43 31 9 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791658136 12 11022136 CAAG C 509 PASS - - - - - Del - D 11022136 11022147 3 28 484.196 - - 3 1 1 - - ./. 0 0 0 0 25 33 25 33 0 0 ./. 3 6 6 10 40 39 40 39 6 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791659315 12 12925141 ACTG A 538 PASS APOLD1 CCDS44833.1 r.? - - Del intronic D 12925141 12925145 3 20 537.995 - - 1 1 1 APOLD1|CCDS44833.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 APOLD1|CCDS44833.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 30 22 30 0 0 ./. 1 9 2 10 17 38 17 38 2 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791664488 12 23834395 GATTGAAT G 522 PASS SOX5 CCDS8699.1 r.? - - Del intronic D 23834395 23834406 7 96 968.392 - - 1 1 1 SOX5|CCDS8699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SOX5|CCDS8699.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 22 19 22 0 0 ./. 7 11 0 0 34 50 34 51 7 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791667520 12 30025952 AT A 660 PASS - - - - - Del - D 30025952 30025959 1 40 591.795 - - 6 1 1 - - ./. 0 0 0 0 27 26 27 26 0 0 ./. 4 7 7 9 33 37 33 37 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791667772 12 30649011 TACTC T 747 PASS - - - - - Del - D 30649011 30649018 4 60 753.193 - - 1 1 1 - - ./. 0 0 0 0 27 29 27 29 0 0 ./. 9 5 12 8 38 26 38 26 12 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791667925 12 30940005 T TA 689 PASS - - - - - Ins - I 30940005 30940012 1 45 626.328 - - 6 1 1 - - ./. 0 0 0 0 26 38 28 38 0 0 ./. 8 4 13 7 56 30 56 30 13 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791668104 12 31363133 TG T 300 PASS ENSG00000177359 ENST00000266524 r.? - - Del upstream D 31363133 31363135 1 12 268.998 - - 1 1 1 ENSG00000177359|ENST00000266524|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ENSG00000177359|ENST00000266524|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 45 10 45 10 0 0 ./. 3 2 6 3 42 18 42 18 6 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791669659 12 33475854 A AAG 900 PASS - - - - - Ins - I 33475854 33475863 2 72 787.727 - - 4 1 1 - - ./. 0 0 0 0 17 36 17 36 0 0 ./. 7 8 7 11 34 45 34 45 7 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791669843 12 33996196 GAC G 300 PASS - - - - - Del - D 33996196 33996214 2 10 267.191 - - 8 1 - - - ./. 0 0 0 0 26 35 26 35 0 0 ./. 4 1 4 1 36 36 36 36 4 1 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791669878 12 34092025 TGAAA T 567 PASS - - - - - Del - D 34092025 34092030 4 36 591.795 - - 1 1 1 - - ./. 0 0 0 0 27 17 27 17 0 0 ./. 3 8 5 10 35 30 35 30 5 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791673638 12 45684812 CTCAATGAGGAA C 261 PASS ANO6 CCDS31782.1 r.? - - Del intronic D 45684812 45684824 11 24 482.992 - - 1 1 1 ANO6|CCDS31782.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANO6|CCDS31782.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 21 29 21 0 0 ./. 2 7 3 8 35 28 36 28 4 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791674127 12 46841580 C CT 300 PASS - - - - - Ins - I 46841580 46841590 1 10 264.181 - - 9 1 - - - ./. 0 0 0 0 26 30 27 30 0 0 ./. 1 4 1 4 36 38 37 38 1 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791675802 12 50342342 TA T 300 PASS AQP2 CCDS8792.1 r.? - - Del upstream D 50342342 50342352 1 12 268.998 - - 9 1 1 AQP2|CCDS8792.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 AQP2|CCDS8792.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 24 26 24 26 0 0 ./. 3 2 3 2 38 37 38 37 3 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791678640 12 55225713 AACATT A 406 PASS - - - - - Del - D 55225713 55225722 5 64 752.591 - - 1 1 1 - - ./. 0 0 0 0 28 20 28 20 0 0 ./. 7 7 7 8 41 38 41 39 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791678892 12 55955478 GA G 548 PASS - - - - - Del - D 55955478 55955482 1 36 537.995 - - 3 1 1 - - ./. 0 0 0 0 38 24 38 24 0 0 ./. 5 5 11 6 42 32 42 32 11 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791680132 12 57929243 AAC A 360 PASS DCTN2 CCDS44930.1 r.? - - Del intronic D 57929243 57929261 2 16 322.797 - - 8 1 1 DCTN2|CCDS44930.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DCTN2|CCDS44930.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 22 29 22 0 0 ./. 3 3 3 3 35 40 35 40 3 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791681636 12 61652340 C CT 600 PASS - - - - - Ins - I 61652340 61652346 1 27 531.373 - - 5 1 1 - - ./. 0 0 0 0 35 41 35 41 0 0 ./. 2 8 10 12 48 39 48 40 10 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791684609 12 68075360 AC A 900 PASS - - - - - Del - D 68075360 68075362 1 70 805.187 - - 1 1 1 - - ./. 0 0 0 0 20 25 20 25 0 0 ./. 6 9 7 9 28 34 28 34 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791685677 12 70120227 ACT A 809 PASS AC025263.1 ENST00000501387 r.? - - Del intronic D 70120227 70120231 2 60 753.193 - - 1 1 1 AC025263.1|ENST00000501387|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC025263.1|ENST00000501387|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 30 27 30 0 0 ./. 9 5 14 8 52 37 52 37 14 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791685961 12 70727257 TTAG T 1047 PASS CNOT2 CCDS31857.1 r.? - - Del intronic D 70727257 70727261 3 108 1019.18 - - 1 1 1 CNOT2|CCDS31857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNOT2|CCDS31857.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 23 27 23 0 0 ./. 11 8 13 11 40 42 40 42 13 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791686943 12 73072959 A AC 300 PASS - - - - - Ins - I 73072959 73072960 1 12 265.987 - - 0 1 1 - - ./. 0 0 0 0 26 24 28 24 0 0 ./. 2 3 3 3 34 30 35 32 3 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791688857 12 77441824 A AT 540 PASS E2F7 CCDS9016.1 r.? - - Ins intronic I 77441824 77441825 1 30 478.777 - - 0 1 1 E2F7|CCDS9016.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 E2F7|CCDS9016.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 32 19 34 19 0 0 ./. 5 4 7 8 25 30 26 30 7 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791689591 12 79357961 GA G 720 PASS SYT1 CCDS9017.1 r.? - - Del intronic D 79357961 79357969 1 40 645.594 - - 7 1 1 SYT1|CCDS9017.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SYT1|CCDS9017.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 33 21 33 0 0 ./. 9 3 11 6 40 36 40 36 11 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791693656 12 89632930 TAG T 809 PASS - - - - - Del - D 89632930 89632933 2 63 752.591 - - 1 1 1 - - ./. 0 0 0 0 16 24 16 24 0 0 ./. 8 6 10 6 29 29 29 29 10 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791699671 12 101728587 TA T 1109 PASS UTP20 CCDS9081.1 r.? - - Del intronic D 101728587 101728589 1 108 1020.99 - - 1 1 1 UTP20|CCDS9081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UTP20|CCDS9081.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 22 28 22 0 0 ./. 11 8 12 9 36 31 36 31 12 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791702988 12 109071958 CT C 360 PASS CORO1C CCDS9120.1 r.? - - Del intronic D 109071958 109071960 1 16 322.797 - - 1 1 1 CORO1C|CCDS9120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CORO1C|CCDS9120.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 19 30 19 0 0 ./. 3 3 5 3 33 22 33 22 5 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791703358 12 109664090 AAAAT A 983 PASS ACACB CCDS31898.1 r.? - - Del intronic D 109664090 109664098 4 84 914.592 - - 1 1 1 ACACB|CCDS31898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACACB|CCDS31898.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 26 26 26 0 0 ./. 6 11 7 16 27 40 27 40 7 16 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791704050 12 110779237 T TA 360 PASS ATP2A2 CCDS9144.1 r.? - - Ins intronic I 110779237 110779247 1 15 319.185 - - 9 1 1 ATP2A2|CCDS9144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ATP2A2|CCDS9144.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 29 28 30 0 0 ./. 2 4 5 11 36 54 36 54 5 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791705635 12 113679577 G GTT 420 PASS TPCN1 CCDS31908.1 r.? - - Ins intronic I 113679577 113679579 2 20 363.953 - - 1 1 - TPCN1|CCDS31908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 TPCN1|CCDS31908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 24 19 24 0 0 ./. 3 4 6 6 18 20 18 20 6 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791708664 12 119437134 CG C 660 PASS SRRM4 CCDS44994.1 r.? - - Del intronic D 119437134 119437138 1 42 591.795 - - 3 1 1 SRRM4|CCDS44994.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SRRM4|CCDS44994.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 13 26 13 0 0 ./. 5 6 7 7 25 22 25 22 7 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791711781 12 123729930 TG T 749 PASS C12orf65 CCDS9244.1 r.? - - Del intronic D 123729930 123729932 1 56 696.384 - - 1 1 1 C12orf65|CCDS9244.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 C12orf65|CCDS9244.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 17 22 17 0 0 ./. 6 7 14 12 40 40 40 40 14 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791713908 12 127746447 AG A 360 PASS - - - - - Del - D 127746447 127746449 1 12 322.797 - - 1 1 1 - - ./. 0 0 0 0 33 25 33 25 0 0 ./. 5 1 5 5 28 26 28 26 5 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791714178 12 128229336 G GT 300 PASS - - - - - Ins - I 128229336 128229346 1 12 261.773 - - 9 1 1 - - ./. 0 0 0 0 30 25 30 25 0 0 ./. 3 2 3 2 30 38 30 38 3 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791714403 12 128601920 C CA 540 PASS - - - - - Ins - I 128601920 128601923 1 28 478.777 - - 2 1 1 - - ./. 0 0 0 0 24 26 24 27 0 0 ./. 6 3 10 5 34 21 34 21 10 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791714894 12 129495764 AC A 660 PASS - - - - - Del - D 129495764 129495770 1 40 588.785 - - 5 1 1 - - ./. 0 0 0 0 41 15 41 15 0 0 ./. 4 7 8 9 36 24 36 24 8 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791716834 12 133557924 G GT 326 PASS - - - - - Ins - I 133557924 133557930 1 15 319.185 - - 5 1 1 - - ./. 0 0 0 0 37 18 37 18 0 0 ./. 4 2 6 5 37 23 38 23 6 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791719992 13 23731457 GCGTGAA G 261 PASS - - - - - Del - D 23731457 23731465 6 24 485.287 - - 1 1 1 - - ./. 0 0 0 0 31 19 31 19 0 0 ./. 2 7 4 7 26 31 26 31 4 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791720255 13 24187677 TTCTCC T 718 PASS TNFRSF19 CCDS9301.1 r.? - - Del intronic D 24187677 24187685 5 56 700.971 - - 1 1 1 TNFRSF19|CCDS9301.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TNFRSF19|CCDS9301.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 28 28 28 0 0 ./. 6 7 6 9 34 36 34 36 6 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791721001 13 25473849 CA C 809 PASS CENPJ CCDS9310.1 r.? - - Del intronic D 25473849 25473851 1 60 753.687 - - 1 1 1 CENPJ|CCDS9310.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CENPJ|CCDS9310.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 21 24 21 0 0 ./. 5 9 8 10 37 34 37 34 8 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791722443 13 28181058 A AG 809 PASS LNX2 CCDS9323.1 r.? - - Ins intronic I 28181058 28181060 1 60 746.463 - - 1 1 1 LNX2|CCDS9323.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 LNX2|CCDS9323.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 22 27 22 0 0 ./. 5 9 9 13 34 41 34 41 9 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791722904 13 28938619 AC A 660 PASS FLT1 CCDS9330.1 r.? - - Del intronic D 28938619 28938623 1 42 593.129 - - 3 1 1 FLT1|CCDS9330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FLT1|CCDS9330.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 34 28 34 0 0 ./. 5 6 9 6 42 52 42 52 9 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791724500 13 32090580 AT A 300 PASS - - - - - Del - D 32090580 32090590 1 10 269.604 - - 9 1 1 - - ./. 0 0 0 0 36 31 36 31 0 0 ./. 4 1 4 1 44 37 44 37 4 1 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791724789 13 32665132 GGGCAGCAT G 377 PASS FRY CCDS41875.1 r.? - - Del intronic D 32665132 32665141 8 44 700.971 - - 1 1 1 FRY|CCDS41875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FRY|CCDS41875.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 17 28 17 0 0 ./. 10 3 12 6 38 31 38 31 12 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791727638 13 38797103 AT A 660 PASS - - - - - Del - D 38797103 38797109 1 42 593.129 - - 5 1 1 - - ./. 0 0 0 0 30 27 30 27 0 0 ./. 6 5 9 6 28 39 28 39 9 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791730098 13 43842710 T TA 300 PASS ENOX1 CCDS9389.1 r.? - - Ins intronic I 43842710 43842720 1 10 256.359 - - 9 1 1 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ENOX1|CCDS9389.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 34 25 34 26 0 0 ./. 4 1 4 1 42 45 42 45 4 1 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791731285 13 46198509 CCA C 660 PASS - - - - - Del - D 46198509 46198512 2 22 593.129 - - 1 1 1 - - ./. 0 0 0 0 31 15 31 15 0 0 ./. 10 1 13 1 48 29 48 29 13 1 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791732173 13 48167434 CTT C 660 PASS - - - - - Del - D 48167434 48167437 2 42 593.129 - - 2 1 1 - - ./. 0 0 0 0 18 30 18 30 0 0 ./. 6 5 8 7 31 35 31 35 8 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791732174 13 48172154 C CA 1020 PASS - - - - - Ins - I 48172154 48172156 1 78 906.419 - - 1 1 1 - - ./. 0 0 0 0 27 30 27 30 0 0 ./. 5 12 11 19 41 46 41 46 11 19 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791734547 13 52980024 TG T 780 PASS THSD1 CCDS9433.1 r.? - - Del intronic D 52980024 52980029 1 56 698.562 - - 4 1 1 THSD1|CCDS9433.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 THSD1|CCDS9433.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 26 28 26 0 0 ./. 6 7 9 11 43 32 43 32 9 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791734688 13 53275160 AAAATGAAAACATTTTCC A 464 PASS LECT1 CCDS45051.1 r.? - - Del downstream D 53275160 53275179 17 81 862.733 - - 1 1 1 LECT1|CCDS45051.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AL139089.1|ENST00000509401|r.?|-|-|non_protein_coding:deletion:2KB_upstream_variant|SO:0000011:SO:0000159:SO:0001636 ./. 0 0 0 0 26 28 26 28 0 0 ./. 8 8 6 8 33 39 35 39 8 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791736148 13 56786948 G GA 780 PASS - - - - - Ins - I 56786948 56786955 1 54 692.542 - - 6 1 1 - - ./. 0 0 0 0 28 30 29 30 0 0 ./. 5 8 5 9 29 43 30 44 5 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791739041 13 63506022 GA G 600 PASS - - - - - Del - D 63506022 63506024 1 32 539.208 - - 1 1 1 - - ./. 0 0 0 0 27 25 27 25 0 0 ./. 3 7 6 13 40 45 40 45 6 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791740031 13 65103366 ATTAT A 836 PASS - - - - - Del - D 65103366 65103375 4 72 862.733 - - 2 1 1 - - ./. 0 0 0 0 29 34 29 34 0 0 ./. 11 5 14 5 51 34 51 34 14 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791742327 13 70397053 G GT 1020 PASS KLHL1 CCDS9445.1 r.? - - Ins intronic I 70397053 70397060 1 70 906.419 - - 6 1 1 KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KLHL1|CCDS9445.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 32 40 32 40 0 0 ./. 4 13 10 15 45 57 45 57 10 15 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791748405 13 84065781 CA C 600 PASS - - - - - Del - D 84065781 84065787 1 32 539.208 - - 5 1 1 - - ./. 0 0 0 0 20 47 20 47 0 0 ./. 3 7 6 10 37 34 37 34 6 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791754408 13 97638762 GT G 1140 PASS OXGR1 CCDS9482.1 r.1495delA c.? p.? Del 3'UTR variant D 97638762 97638764 1 110 1022.69 - - 1 1 1 OXGR1|CCDS9482.1|r.1495delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 OXGR1|CCDS9482.1|r.1495delA|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 22 22 22 22 0 0 ./. 10 9 12 9 38 41 38 41 12 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791760100 13 109379197 GC G 593 PASS MYO16 CCDS32008.1 r.? - - Del intronic D 109379197 109379199 1 35 539.208 - - 1 1 1 MYO16|CCDS32008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MYO16|CCDS32008.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 25 32 25 0 0 ./. 6 4 9 5 40 20 40 20 9 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791764697 14 22982189 CCCAGG C 869 PASS TRAC ENST00000446346 r.? - - Del intronic D 22982189 22982196 5 60 809.424 - - 1 1 1 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRAC|ENST00000446346|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 18 24 18 0 0 ./. 11 4 11 6 45 26 45 26 11 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791765885 14 25277368 CAGGAAG C 290 PASS STXBP6 CCDS9634.1 r.? - - Del downstream D 25277368 25277375 6 35 539.616 - - 1 1 1 STXBP6|CCDS9634.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 STXBP6|CCDS9634.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 17 29 17 29 0 0 ./. 6 4 8 6 30 29 30 29 8 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791767014 14 27933149 G GT 780 PASS - - - - - Ins - I 27933149 27933157 1 54 693.674 - - 7 1 1 - - ./. 0 0 0 0 29 32 29 32 0 0 ./. 5 8 11 10 44 42 45 44 11 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791769215 14 32650055 TC T 1020 PASS - - - - - Del - D 32650055 32650058 1 88 916.143 - - 2 1 1 - - ./. 0 0 0 0 30 22 30 22 0 0 ./. 7 10 11 13 43 50 43 50 11 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791770231 14 34848306 TCTGA T 569 PASS - - - - - Del - D 34848306 34848311 4 35 535.401 - - 1 1 1 - - ./. 0 0 0 0 38 21 38 21 0 0 ./. 4 6 7 9 33 28 33 28 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791770919 14 35613319 GGGT G 749 PASS KIAA0391 CCDS32063.1 r.? - - Del intronic D 35613319 35613324 3 56 701.501 - - 1 1 1 KIAA0391|CCDS32063.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0391|CCDS32063.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 25 25 25 0 0 ./. 6 7 7 8 35 34 35 34 7 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791773500 14 41105586 CA C 780 PASS - - - - - Del - D 41105586 41105591 1 56 700.899 - - 4 1 1 - - ./. 0 0 0 0 18 33 18 33 0 0 ./. 6 7 9 11 28 30 28 30 9 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791773926 14 41893242 TTAACCATTCTCTG T 319 PASS - - - - - Del - D 41893242 41893258 13 36 593.577 - - 1 1 1 - - ./. 0 0 0 0 27 32 27 32 0 0 ./. 8 3 8 4 35 25 36 25 9 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791774417 14 43019390 C CA 780 PASS - - - - - Ins - I 43019390 43019399 1 54 693.674 - - 8 1 1 - - ./. 0 0 0 0 32 41 32 41 0 0 ./. 5 8 8 10 44 41 44 41 8 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791774600 14 43431148 TGAA T 689 PASS - - - - - Del - D 43431148 43431153 3 33 647.539 - - 1 1 1 - - ./. 0 0 0 0 21 21 21 21 0 0 ./. 10 2 10 3 48 29 48 29 10 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791774673 14 43595783 T TC 569 PASS - - - - - Ins - I 43595783 43595785 1 36 532.993 - - 1 1 1 - - ./. 0 0 0 0 25 19 25 20 0 0 ./. 5 5 13 8 43 44 43 45 13 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791776089 14 47011488 T TA 600 PASS - - - - - Ins - I 47011488 47011497 1 32 533.595 - - 8 1 1 - - ./. 0 0 0 0 27 14 27 15 0 0 ./. 3 7 8 8 36 35 37 35 8 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791776596 14 48152173 TAAA T 869 PASS - - - - - Del - D 48152173 48152178 3 66 809.424 - - 4 1 1 - - ./. 0 0 0 0 30 27 30 27 0 0 ./. 5 10 7 11 41 33 41 33 7 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791776625 14 48220622 AAG A 300 PASS - - - - - Del - D 48220622 48220637 2 10 269.808 - - 7 1 - - - ./. 0 0 0 0 21 32 21 32 0 0 ./. 1 4 1 5 32 28 32 28 1 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791779196 14 53009173 TA T 300 PASS TXNDC16 CCDS32083.1 r.533-3delu c.161-3delt p.? Del splice region D 53009173 53009178 1 10 269.808 - - 4 1 1 TXNDC16|CCDS32083.1|r.533-3delu|c.161-3delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 TXNDC16|CCDS32083.1|r.533-3delu|c.161-3delt|p.?|protein_coding:CDS:extended_intronic_splice_region:deletion:extended_intronic_splice_region_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000159:SO:CGPX04:SO:0001576 ./. 0 0 0 0 23 24 23 24 0 0 ./. 1 4 4 6 41 35 41 35 4 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791789292 14 73402614 GTTGGTAATAATAATAATCT G 348 PASS DCAF4 CCDS9810.1 r.? - - Del intronic D 73402614 73402636 19 45 647.539 - - 1 1 1 DCAF4|CCDS9810.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 DCAF4|CCDS9810.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 19 25 19 0 0 ./. 4 8 4 7 40 38 40 39 4 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791796037 14 86880043 GACTTTCTTTTC G 406 PASS - - - - - Del - D 86880043 86880055 11 60 755.462 - - 1 1 1 - - ./. 0 0 0 0 17 22 17 22 0 0 ./. 5 9 5 9 37 26 37 26 5 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791801732 14 98494501 GT G 634 PASS - - - - - Del - D 98494501 98494505 1 54 701.501 - - 3 1 1 - - ./. 0 0 0 0 27 18 27 18 0 0 ./. 5 8 8 8 34 33 34 33 8 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791801910 14 98901175 CA C 300 PASS - - - - - Del - D 98901175 98901177 1 10 269.808 - - 1 1 1 - - ./. 0 0 0 0 23 26 23 26 0 0 ./. 4 1 7 2 57 47 57 47 7 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791804329 14 103947766 AAACAAAATG ATGT 512 PASS MARK3 CCDS45165.1 r.? - - Complex intronic DI 103947767 103947775 9 108 0 - - 0 1 1 MARK3|CCDS45165.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 MARK3|CCDS45165.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 13 18 13 18 0 0 ./. 8 11 0 0 35 30 36 30 8 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791805670 14 106849262 TA T 480 PASS - - - - - Del - D 106849262 106849264 1 21 431.693 - - 1 1 1 - - ./. 0 0 0 0 20 15 20 15 0 0 ./. 2 6 6 8 29 23 29 23 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791810777 15 29094071 GT G 536 PASS - - - - - Del - D 29094071 29094081 1 42 590.495 - - 9 1 - - - ./. 0 0 0 0 23 25 23 25 0 0 ./. 5 6 7 9 29 33 29 33 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791811734 15 31336850 GGCAT G 507 PASS TRPM1 CCDS10024.2 r.? - - Del intronic D 31336850 31336858 4 35 538.894 - - 1 1 1 TRPM1|CCDS10024.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TRPM1|CCDS10024.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 12 25 12 0 0 ./. 6 4 7 5 38 35 38 35 7 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791812660 15 33428775 AG A 660 PASS FMN1 ENST00000414268 r.? - - Del intronic D 33428775 33428777 1 40 594.108 - - 1 1 1 FMN1|ENST00000414268|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FMN1|ENST00000414268|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 27 20 27 0 0 ./. 7 4 10 5 35 40 35 40 10 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791817470 15 42638049 AC A 360 PASS GANC CCDS10084.1 r.? - - Del intronic D 42638049 42638051 1 16 324.059 - - 1 1 1 GANC|CCDS10084.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GANC|CCDS10084.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 24 24 24 0 0 ./. 3 3 6 9 33 36 33 36 6 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791819380 15 45956502 T TA 660 PASS SQRDL CCDS10127.1 r.? - - Ins intronic I 45956502 45956505 1 42 587.485 - - 2 1 1 SQRDL|CCDS10127.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SQRDL|CCDS10127.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 31 26 31 0 0 ./. 5 6 9 8 39 45 39 46 9 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791819476 15 46161174 TG T 900 PASS - - - - - Del - D 46161174 46161176 1 70 810.147 - - 1 1 1 - - ./. 0 0 0 0 26 19 26 19 0 0 ./. 6 9 9 12 36 41 36 41 9 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791820611 15 49062699 CA C 780 PASS CEP152 CCDS42033.1 r.? - - Del intronic D 49062699 49062702 1 54 702.127 - - 2 1 1 CEP152|CCDS42033.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CEP152|CCDS42033.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 29 30 29 0 0 ./. 5 8 9 11 38 35 38 35 9 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791825636 15 59048841 CT C 420 PASS - - - - - Del - D 59048841 59048848 1 20 378.069 - - 6 1 1 - - ./. 0 0 0 0 24 27 24 27 0 0 ./. 3 4 6 8 40 47 40 47 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791830216 15 67007055 AT A 989 PASS SMAD6 CCDS10221.1 r.? - - Del intronic D 67007055 67007058 1 84 916.962 - - 2 1 1 SMAD6|CCDS10221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SMAD6|CCDS10221.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 22 21 22 0 0 ./. 11 6 15 8 39 33 39 33 15 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791838611 15 85247762 GA G 840 PASS SEC11B CCDS45340.1 r.? - - Del intronic D 85247762 85247766 1 55 756.137 - - 3 1 1 SEC11B|CCDS45340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SEC11B|CCDS45340.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 25 32 25 0 0 ./. 4 10 6 13 40 45 40 45 6 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791840884 15 90331581 GAAA G 445 PASS ANPEP CCDS10356.1 r.? - - Del intronic D 90331581 90331585 3 35 540.098 - - 3 1 1 ANPEP|CCDS10356.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANPEP|CCDS10356.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 35 20 35 0 0 ./. 4 6 6 9 35 34 35 34 6 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791841994 15 92374908 G GA 300 PASS - - - - - Ins - I 92374908 92374918 1 10 267.039 - - 9 1 1 - - ./. 0 0 0 0 27 29 27 29 0 0 ./. 1 4 2 4 39 42 40 44 2 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791842404 15 93320093 AAT A 300 PASS - - - - - Del - D 93320093 93320112 2 10 270.049 - - 9 1 1 - - ./. 0 0 0 0 9 28 9 28 0 0 ./. 1 4 2 5 37 34 37 34 2 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791843506 15 95433707 A AT 300 PASS - - - - - Ins - I 95433707 95433717 1 10 261.018 - - 9 1 1 - - ./. 0 0 0 0 26 22 27 22 0 0 ./. 1 4 1 4 32 32 32 32 1 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791847554 16 1803300 CTATA CAAT 758 PASS MAPK8IP3 CCDS10442.2 r.? - - Complex intronic DI 1803301 1803304 4 54 0 - - 0 1 1 MAPK8IP3|CCDS10442.2|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 MAPK8IP3|CCDS10442.2|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 28 17 28 17 0 0 ./. 8 5 0 0 35 17 35 17 8 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791857797 16 19660613 A AT 600 PASS C16orf62 CCDS32397.1 r.? - - Ins intronic I 19660613 19660621 1 27 529.631 - - 7 1 1 C16orf62|CCDS32397.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C16orf62|CCDS32397.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 30 27 30 27 0 0 ./. 8 2 11 3 33 47 33 48 11 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791863344 16 29949352 TC T 627 PASS - - - - - Del - D 29949352 29949354 1 40 647.84 - - 1 1 1 - - ./. 0 0 0 0 33 23 33 23 0 0 ./. 9 3 14 9 41 31 41 31 14 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791868778 16 47340246 TA T 900 PASS ITFG1 CCDS10728.1 r.? - - Del intronic D 47340246 47340251 1 66 804.381 - - 4 1 1 ITFG1|CCDS10728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITFG1|CCDS10728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 13 26 13 0 0 ./. 10 5 14 8 36 20 36 20 14 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791872013 16 55966471 TG T 300 PASS - - - - - Del - D 55966471 55966481 1 6 269.933 - - 9 1 1 - - ./. 0 0 0 0 26 5 26 5 0 0 ./. 5 0 9 0 22 16 22 16 9 0 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791875193 16 63646730 TA T 900 PASS - - - - - Del - D 63646730 63646732 1 72 809.8 - - 1 1 1 - - ./. 0 0 0 0 34 21 34 21 0 0 ./. 7 8 10 10 29 27 29 27 10 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791876391 16 67070577 GT G 540 PASS CBFB CCDS45508.1 r.463delU c.202delT p.P70fs*19 Del frameshift D 67070577 67070584 1 24 485.88 - - 6 1 1 CBFB|CCDS45508.1|r.463delU|c.202delT|p.P70fs*19|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CBFB|CCDS45508.1|r.463delU|c.202delT|p.P70fs*19|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 30 28 30 28 0 0 ./. 2 7 4 9 12 18 12 18 4 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791882975 16 81223993 A AT 1080 PASS PKD1L2 CCDS42202.1 r.? - - Ins intronic I 81223993 81224001 1 96 953.096 - - 7 1 1 PKD1L2|CCDS42202.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PKD1L2|CCDS42202.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 23 23 23 0 0 ./. 11 7 15 12 33 40 33 40 15 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791886044 16 88671292 TGTCAG T 689 PASS ZC3H18 CCDS10967.1 r.? - - Del intronic D 88671292 88671299 5 40 647.84 - - 1 1 1 ZC3H18|CCDS10967.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZC3H18|CCDS10967.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 26 20 26 0 0 ./. 9 3 10 6 27 15 27 15 11 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791891146 17 7577057 TC T 780 PASS TP53 CCDS11118.1 r.1070delG c.880delG p.E294fs*51 Del frameshift D 7577057 7577062 1 54 699.957 - - 4 1 1 TP53|CCDS11118.1|r.1070delG|c.880delG|p.E294fs*51|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 TP53|CCDS11118.1|r.1070delG|c.880delG|p.E294fs*51|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 16 23 16 23 0 0 ./. 5 8 6 12 17 26 17 26 6 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791893978 17 13431521 T TC 600 PASS HS3ST3A1 CCDS11165.1 r.? - - Ins intronic I 13431521 13431525 1 35 531.991 - - 3 1 1 HS3ST3A1|CCDS11165.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 HS3ST3A1|CCDS11165.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 30 33 30 33 0 0 ./. 4 6 4 6 18 20 18 20 4 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791905189 17 37031126 TG T 629 PASS LASP1 CCDS11331.1 r.? - - Del intronic D 37031126 37031130 1 40 592.596 - - 3 1 1 LASP1|CCDS11331.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LASP1|CCDS11331.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 13 18 13 0 0 ./. 7 4 11 6 39 23 39 23 11 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791905284 17 37153978 C CT 300 PASS - - - - - Ins - I 37153978 37153988 1 10 266.899 - - 9 1 1 - - ./. 0 0 0 0 30 22 30 22 0 0 ./. 4 1 7 4 36 30 36 30 7 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791905610 17 37566728 GATGCT G 538 PASS MED1 CCDS11336.1 r.1947_1951delAGCAU c.1741_1745delAGCAT p.S581fs*5 Del frameshift D 37566728 37566734 5 36 539.818 - - 1 1 1 MED1|CCDS11336.1|r.1947_1951delAGCAU|c.1741_1745delAGCAT|p.S581fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 MED1|CCDS11336.1|r.1947_1951delAGCAU|c.1741_1745delAGCAT|p.S581fs*5|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 18 10 18 10 0 0 ./. 5 5 5 5 29 21 29 21 5 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791909239 17 43179843 A AC 420 PASS NMT1 CCDS11494.1 r.? - - Ins intronic I 43179843 43179847 1 18 364.025 - - 3 1 1 NMT1|CCDS11494.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NMT1|CCDS11494.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 21 20 21 0 0 ./. 5 2 7 8 21 30 21 30 7 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791910277 17 45006266 TC T 780 PASS GOSR2 CCDS42355.1 r.? - - Del intronic D 45006266 45006268 1 54 701.764 - - 1 1 1 GOSR2|CCDS42355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GOSR2|CCDS42355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 18 23 18 0 0 ./. 8 5 13 8 37 27 37 27 13 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791911142 17 46210702 GT G 540 PASS SKAP1 CCDS32674.1 r.? - - Del downstream D 46210702 46210707 1 28 478.01 - - 4 1 1 SKAP1|CCDS32674.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 SKAP1|CCDS32674.1|r.?|-|-|protein_coding:deletion:500B_downstream_variant|SO:0000010:SO:0000159:SO:0001634 ./. 0 0 0 0 24 30 24 30 0 0 ./. 3 6 7 9 45 33 45 33 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791912799 17 49014576 CT C 920 PASS - - - - - Del - D 49014576 49014578 1 90 917.691 - - 1 1 1 - - ./. 0 0 0 0 18 24 18 24 0 0 ./. 9 8 12 11 38 41 38 41 12 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791914543 17 52752314 TTA T 780 PASS - - - - - Del - D 52752314 52752317 2 36 701.764 - - 1 1 1 - - ./. 0 0 0 0 28 20 28 20 0 0 ./. 2 11 4 12 32 35 32 35 4 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791915247 17 54418150 CT C 660 PASS ANKFN1 CCDS32686.1 r.? - - Del intronic D 54418150 54418158 1 40 593.8 - - 7 1 1 ANKFN1|CCDS32686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKFN1|CCDS32686.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 28 24 28 0 0 ./. 7 4 10 7 34 34 34 34 10 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791923236 17 67877975 G GA 900 PASS - - - - - Ins - I 67877975 67877984 1 60 798.89 - - 8 1 1 - - ./. 0 0 0 0 39 32 39 33 0 0 ./. 4 11 5 14 33 54 35 54 5 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791924491 17 70554337 CT C 480 PASS - - - - - Del - D 70554337 70554343 1 21 431.855 - - 5 1 1 - - ./. 0 0 0 0 28 36 28 36 0 0 ./. 6 2 6 2 36 35 36 35 6 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791926277 17 73483959 TG T 660 PASS KIAA0195 CCDS32732.1 r.? - - Del intronic D 73483959 73483966 1 42 593.8 - - 6 1 1 KIAA0195|CCDS32732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIAA0195|CCDS32732.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 22 25 22 0 0 ./. 5 6 7 9 31 22 31 22 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791926422 17 73725285 GC G 720 PASS ITGB4 CCDS11727.1 r.? - - Del intronic D 73725285 73725287 1 33 647.782 - - 1 1 1 ITGB4|CCDS11727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGB4|CCDS11727.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 15 28 15 0 0 ./. 10 2 16 2 45 21 45 21 16 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791930932 18 142719 CA C 720 PASS - - - - - Del - D 142719 142722 1 48 647.983 - - 2 1 1 - - ./. 0 0 0 0 34 19 34 19 0 0 ./. 7 5 11 7 32 29 32 29 11 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791932126 18 2404832 AG A 840 PASS - - - - - Del - D 2404832 2404834 1 64 754.174 - - 1 1 1 - - ./. 0 0 0 0 22 26 22 26 0 0 ./. 7 7 9 10 41 28 41 28 9 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791933084 18 3754082 CCTTAACTTCTCAGGCT C 464 PASS DLGAP1 CCDS11836.1 r.? - - Del intronic D 3754082 3754100 16 80 862.773 - - 1 1 1 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DLGAP1|CCDS11836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 31 28 31 0 0 ./. 9 7 8 8 34 37 35 37 9 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791933654 18 5031561 A AT 629 PASS - - - - - Ins - I 5031561 5031567 1 42 587.362 - - 5 1 1 - - ./. 0 0 0 0 20 28 20 29 0 0 ./. 5 6 6 11 43 35 44 35 6 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791934956 18 8184634 A AT 1200 PASS PTPRM CCDS11840.1 r.? - - Ins intronic I 8184634 8184638 1 120 1067.93 - - 3 1 1 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PTPRM|CCDS11840.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 25 26 26 27 0 0 ./. 11 9 12 11 42 51 42 51 12 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791936868 18 11862509 ATTTAATGATTATT A 435 PASS GNAL CCDS11851.1 r.? - - Del intronic D 11862509 11862524 13 72 808.774 - - 1 1 1 GNAL|CCDS11851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GNAL|CCDS11851.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 23 30 23 0 0 ./. 7 8 8 8 39 37 39 37 8 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791947393 18 37545912 TG T 540 PASS - - - - - Del - D 37545912 37545914 1 30 485.987 - - 1 1 1 - - ./. 0 0 0 0 24 19 24 19 0 0 ./. 4 5 7 6 32 40 32 40 7 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791953111 18 51108865 TAAGGAAGTTTTTTTA T 290 PASS - - - - - Del - D 51108865 51108883 15 35 539.384 - - 1 1 1 - - ./. 0 0 0 0 30 24 30 24 0 0 ./. 4 6 4 6 31 38 31 38 4 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791954339 18 53873996 CT C 929 PASS - - - - - Del - D 53873996 53874000 1 77 863.977 - - 3 1 1 - - ./. 0 0 0 0 28 28 28 28 0 0 ./. 10 6 14 10 38 38 38 38 14 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791958754 18 63189543 AC A 480 PASS - - - - - Del - D 63189543 63189546 1 21 431.387 - - 2 1 1 - - ./. 0 0 0 0 15 27 15 27 0 0 ./. 6 2 7 6 24 35 24 35 7 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791960865 18 67373765 TTTA T 382 PASS DOK6 CCDS32841.1 r.? - - Del intronic D 67373765 67373779 3 16 428.376 - - 4 1 1 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DOK6|CCDS32841.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 27 19 27 0 0 ./. 1 7 2 10 12 43 12 43 2 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791963172 18 72263668 A AT 660 PASS ENSG00000206029 ENST00000382649 r.1392_1393insa c.? p.? Ins 3'UTR variant I 72263668 72263676 1 42 583.749 - - 7 1 1 ENSG00000206029|ENST00000382649|r.1392_1393insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ENSG00000206029|ENST00000382649|r.1392_1393insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 29 30 29 30 0 0 ./. 5 6 8 8 42 38 42 38 8 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791969497 19 6309271 TG T 780 PASS ACER1 CCDS12161.1 r.? - - Del intronic D 6309271 6309273 1 56 702.237 - - 1 1 1 ACER1|CCDS12161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ACER1|CCDS12161.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 35 19 35 19 0 0 ./. 7 6 9 6 38 25 38 25 9 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791972701 19 10529305 TC T 509 PASS PDE4A CCDS45961.1 r.? - - Del upstream D 10529305 10529308 1 30 486.164 - - 2 1 1 PDE4A|CCDS45961.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 PDE4A|ENST00000380702|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 27 27 27 0 0 ./. 4 5 8 9 27 33 27 33 8 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791983916 19 30163332 TGAGCTGGG T 261 PASS PLEKHF1 CCDS12417.1 r.? - - Del intronic D 30163332 30163342 8 28 483.154 - - 1 1 1 PLEKHF1|CCDS12417.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLEKHF1|CCDS12417.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 34 19 34 0 0 ./. 3 6 3 6 31 30 31 30 3 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791985211 19 33016914 AG A 960 PASS - - - - - Del - D 33016914 33016916 1 77 863.69 - - 1 1 1 - - ./. 0 0 0 0 37 29 37 29 0 0 ./. 10 6 12 9 31 50 31 50 12 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791985340 19 33197233 AGAG A 656 PASS NUDT19 CCDS42543.1 r.? - - Del intronic D 33197233 33197237 3 50 702.237 - - 1 1 1 NUDT19|CCDS42543.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NUDT19|CCDS42543.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 21 25 21 0 0 ./. 4 9 5 10 20 33 20 33 5 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791991796 19 43549304 GGA G 295 PASS PSG1 ENST00000449000 r.? - - Del intronic D 43549304 43549323 2 12 268.887 - - 9 1 1 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PSG1|ENST00000449000|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 16 14 16 0 0 ./. 2 3 2 3 24 23 24 23 2 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791995675 19 49077253 GACT G 627 PASS SULT2B1 CCDS12724.1 r.? - - Del upstream D 49077253 49077259 3 48 634.974 - - 1 1 1 SULT2B1|CCDS12724.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 SULT2B1|CCDS12723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 27 26 27 0 0 ./. 5 7 7 10 27 43 27 43 7 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2791995977 19 49461236 CA C 593 PASS BAX CCDS12744.1 r.? - - Del intronic D 49461236 49461241 1 42 590.588 - - 4 1 1 BAX|CCDS12744.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BAX|CCDS12744.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 22 26 22 0 0 ./. 6 5 10 5 27 28 27 28 10 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792000577 19 56189348 ACAGAATCAG A 406 PASS U2AF2 CCDS12933.1 r.? - - Del downstream D 56189348 56189358 9 55 756.255 - - 1 1 1 U2AF2|CCDS12933.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 EPN1|CCDS46198.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 19 22 19 0 0 ./. 4 10 5 10 24 38 24 38 5 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792003149 2 1980115 T TA 1020 PASS MYT1L CCDS46222.1 r.? - - Ins intronic I 1980115 1980123 1 88 899.503 - - 7 1 1 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MYT1L|CCDS46222.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 29 21 29 0 0 ./. 10 7 13 10 46 45 46 45 13 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792006160 2 9781438 GT G 600 PASS - - - - - Del - D 9781438 9781448 1 32 535.494 - - 9 1 1 - - ./. 0 0 0 0 26 29 26 29 0 0 ./. 7 3 11 6 30 26 30 26 11 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792007548 2 12910950 GTGCAT G 358 PASS - - - - - Del - D 12910950 12910959 5 14 374.846 - - 1 1 1 - - ./. 0 0 0 0 38 32 38 32 0 0 ./. 6 1 10 1 27 11 27 11 10 1 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792008645 2 15538139 GTGGG GT 743 PASS NBAS CCDS1685.1 r.? - - Complex intronic DI 15538140 15538143 4 56 0 - - 0 1 1 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 NBAS|CCDS1685.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 29 21 29 21 0 0 ./. 6 7 0 0 29 37 29 37 6 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792010924 2 21444098 GTC G 600 PASS - - - - - Del - D 21444098 21444102 2 20 535.494 - - 1 1 1 - - ./. 0 0 0 0 17 30 17 30 0 0 ./. 1 9 2 11 11 32 11 32 2 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792010966 2 21559021 GGGGTC GGC 544 PASS - - - - - Complex - DI 21559022 21559026 5 40 0 - - 0 1 1 - - ./. 0 0 0 0 21 23 21 23 0 0 ./. 4 7 0 0 22 28 22 28 4 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792012776 2 25507187 TC T 749 PASS DNMT3A CCDS33157.1 r.? - - Del intronic D 25507187 25507189 1 56 693.132 - - 1 1 1 DNMT3A|CCDS33157.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DNMT3A|CCDS33157.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 30 29 30 0 0 ./. 7 6 9 6 41 39 41 39 9 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792012821 2 25602865 AG A 569 PASS DTNB CCDS46237.1 r.? - - Del intronic D 25602865 25602868 1 35 531.882 - - 2 1 1 DTNB|CCDS46237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DTNB|CCDS46237.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 22 21 22 0 0 ./. 6 4 8 5 34 23 34 23 8 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792018785 2 38100604 ATCTCC A 296 PASS - - - - - Del - D 38100604 38100610 5 20 374.244 - - 1 1 1 - - ./. 0 0 0 0 23 21 23 21 0 0 ./. 3 4 8 5 29 17 29 17 8 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792018836 2 38208924 AAG A 1140 PASS FAM82A1 CCDS1792.1 r.? - - Del intronic D 38208924 38208930 2 110 1017.44 - - 2 1 1 FAM82A1|CCDS1792.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM82A1|CCDS1792.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 16 24 16 0 0 ./. 9 10 9 11 36 52 36 52 9 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792022506 2 45367536 TC T 718 PASS - - - - - Del - D 45367536 45367540 1 56 696.143 - - 3 1 1 - - ./. 0 0 0 0 15 17 15 17 0 0 ./. 6 7 6 8 26 25 26 25 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792027941 2 56532881 TA T 780 PASS CCDC85A CCDS46290.1 r.? - - Del intronic D 56532881 56532886 1 56 694.337 - - 4 1 1 CCDC85A|CCDS46290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CCDC85A|CCDS46290.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 27 27 27 0 0 ./. 6 7 7 8 31 35 31 35 7 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792028948 2 59633038 ACTCCTCCAGAAAG A 348 PASS - - - - - Del - D 59633038 59633057 13 48 642.593 - - 1 1 1 - - ./. 0 0 0 0 36 36 36 36 0 0 ./. 7 5 6 5 30 26 31 26 7 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792032399 2 66337539 G GTT 1260 PASS - - - - - Ins - I 66337539 66337544 2 132 1098.05 - - 4 1 1 - - ./. 0 0 0 0 39 25 39 25 0 0 ./. 10 11 14 16 41 49 41 50 14 16 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792032616 2 66807080 AAG A 329 PASS - - - - - Del - D 66807080 66807098 2 15 321.297 - - 8 1 - - - ./. 0 0 0 0 22 22 22 22 0 0 ./. 2 4 3 5 43 38 43 38 3 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792037399 2 77388443 T TTTCTG 449 PASS LRRTM4 CCDS46346.1 r.? - - Ins intronic I 77388443 77388448 5 21 404.313 - - 0 1 1 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 31 26 31 0 0 ./. 2 6 2 10 24 35 24 36 2 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792037435 2 77554621 ATTT A 507 PASS LRRTM4 CCDS46346.1 r.? - - Del intronic D 77554621 77554629 3 36 535.494 - - 7 1 1 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRRTM4|CCDS46346.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 26 26 26 0 0 ./. 5 5 8 11 37 43 37 43 8 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792038018 2 78979835 CGCAAGGACAA C 262 PASS - - - - - Del - D 78979835 78979846 10 48 642.593 - - 1 1 1 - - ./. 0 0 0 0 11 25 11 25 0 0 ./. 5 7 6 9 22 39 22 39 6 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792039559 2 83244510 TCCTTTTA T 377 PASS - - - - - Del - D 83244510 83244519 7 44 695.541 - - 1 1 1 - - ./. 0 0 0 0 38 19 38 19 0 0 ./. 3 10 5 11 34 40 34 40 5 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792040175 2 84584458 CA C 937 PASS - - - - - Del - D 84584458 84584466 1 80 855.587 - - 7 1 1 - - ./. 0 0 0 0 41 32 41 32 0 0 ./. 9 7 10 9 36 33 36 33 10 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792045184 2 97205643 ACTTGAGGTCTCCCTG A 522 PASS ARID5A CCDS33251.1 r.? - - Del intronic D 97205643 97205661 15 91 963.89 - - 1 1 1 ARID5A|CCDS33251.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARID5A|CCDS33251.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 25 31 25 0 0 ./. 12 6 11 6 30 28 31 28 12 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792046273 2 99896414 TC T 569 PASS LYG1 CCDS2043.1 r.? - - Del downstream D 99896414 99896416 1 35 535.494 - - 1 1 1 LYG1|CCDS2043.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 LYG1|CCDS2043.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 22 25 22 25 0 0 ./. 6 4 9 8 41 28 41 28 9 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792048023 2 103225253 CT C 720 PASS - - - - - Del - D 103225253 103225255 1 48 642.593 - - 1 1 1 - - ./. 0 0 0 0 30 24 30 24 0 0 ./. 7 5 11 8 39 38 39 38 11 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792048675 2 105045518 TTATTA T 927 PASS - - - - - Del - D 105045518 105045527 5 78 910.341 - - 1 1 1 - - ./. 0 0 0 0 31 28 31 28 0 0 ./. 5 12 8 15 35 44 35 44 8 15 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792052391 2 113755889 AGTT A 809 PASS - - - - - Del - D 113755889 113755894 3 55 749.692 - - 1 1 1 - - ./. 0 0 0 0 22 23 22 23 0 0 ./. 4 10 4 11 26 38 26 38 4 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792054700 2 119242379 C CA 780 PASS - - - - - Ins - I 119242379 119242387 1 44 687.112 - - 7 1 1 - - ./. 0 0 0 0 22 27 22 27 0 0 ./. 3 10 6 10 29 42 29 42 6 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792054963 2 120051533 TG T 1080 PASS - - - - - Del - D 120051533 120051538 1 99 963.288 - - 4 1 1 - - ./. 0 0 0 0 26 16 26 16 0 0 ./. 8 10 9 10 31 23 31 23 9 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792055630 2 121524557 AG A 600 PASS GLI2 ENST00000418323 r.? - - Del intronic D 121524557 121524560 1 35 535.494 - - 2 1 1 GLI2|ENST00000418323|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GLI2|ENST00000418323|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 23 19 23 0 0 ./. 4 6 6 6 19 28 19 28 6 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792055766 2 121868653 AC A 689 PASS - - - - - Del - D 121868653 121868655 1 48 642.593 - - 1 1 1 - - ./. 0 0 0 0 33 20 33 20 0 0 ./. 5 7 11 9 44 40 44 40 11 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792056256 2 122885624 A AT 780 PASS - - - - - Ins - I 122885624 122885634 1 54 687.714 - - 9 1 1 - - ./. 0 0 0 0 22 28 23 28 0 0 ./. 8 5 10 10 48 40 49 40 10 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792062416 2 135500117 TG T 840 PASS - - - - - Del - D 135500117 135500120 1 63 749.692 - - 2 1 1 - - ./. 0 0 0 0 31 18 31 18 0 0 ./. 8 6 13 8 40 28 40 28 13 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792062441 2 135552824 G GT 660 PASS - - - - - Ins - I 135552824 135552828 1 42 582.421 - - 3 1 1 - - ./. 0 0 0 0 11 23 12 23 0 0 ./. 6 5 12 6 39 27 39 28 12 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792063399 2 137348368 C CA 360 PASS - - - - - Ins - I 137348368 137348376 1 16 317.684 - - 7 1 1 - - ./. 0 0 0 0 27 33 28 33 0 0 ./. 3 3 5 5 42 28 42 28 5 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792065120 2 141345446 AT A 900 PASS LRP1B CCDS2182.1 r.? - - Del intronic D 141345446 141345451 1 66 802.037 - - 4 1 1 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LRP1B|CCDS2182.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 25 26 25 0 0 ./. 10 5 14 8 40 40 40 40 14 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792067359 2 146682879 TA T 1200 PASS - - - - - Del - D 146682879 146682883 1 105 1070.99 - - 3 1 1 - - ./. 0 0 0 0 36 23 36 23 0 0 ./. 14 6 16 7 45 38 45 38 16 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792068617 2 150149906 CTCAATGAGGACTTCAAAGTTTTCCCAAACAAAACTTGGTAAGAACCTGATTTACTTATGTGAGAGCAAAGGTCCTCTTCTAATAGTTCTCCCAAA C 348 PASS - - - - - Del - D 150149906 150150003 95 49 642.593 - - 1 1 1 - - ./. 0 0 0 0 24 29 24 29 0 0 ./. 6 6 0 0 24 33 30 39 6 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792070645 2 154896934 TTA T 1320 PASS GALNT13 CCDS2199.1 r.? - - Del intronic D 154896934 154896937 2 140 1178.09 - - 1 1 1 GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNT13|CCDS2199.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 20 31 20 0 0 ./. 13 9 17 10 44 36 44 36 17 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792075759 2 167596997 GCT G 300 PASS - - - - - Del - D 167596997 167597014 2 12 267.747 - - 8 1 1 - - ./. 0 0 0 0 28 24 28 24 0 0 ./. 2 3 2 4 34 45 34 45 2 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792076385 2 169100782 GT G 1260 PASS STK39 CCDS42770.1 r.? - - Del intronic D 169100782 169100784 1 130 1122.13 - - 1 1 1 STK39|CCDS42770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 STK39|CCDS42770.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 15 25 15 0 0 ./. 12 9 16 11 52 30 52 30 16 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792078754 2 173044017 ACTC A 658 PASS - - - - - Del - D 173044017 173044024 3 48 642.593 - - 2 1 1 - - ./. 0 0 0 0 20 26 20 26 0 0 ./. 7 5 13 7 34 33 34 33 13 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792080098 2 175695867 TA T 720 PASS CHN1 CCDS46455.1 r.? - - Del intronic D 175695867 175695873 1 40 642.593 - - 5 1 1 CHN1|CCDS46455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CHN1|CCDS46455.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 35 34 35 34 0 0 ./. 9 3 11 6 31 28 31 28 11 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792081649 2 179237983 TA T 420 PASS OSBPL6 CCDS2277.1 r.? - - Del intronic D 179237983 179237986 1 20 374.846 - - 2 1 1 OSBPL6|CCDS2277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OSBPL6|CCDS2277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 24 18 24 0 0 ./. 3 4 6 7 45 32 45 32 6 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792083246 2 183312668 C CT 929 PASS PDE1A CCDS2285.1 r.? - - Ins intronic I 183312668 183312674 1 80 845.352 - - 5 1 1 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 25 28 25 0 0 ./. 7 9 8 9 36 36 36 36 8 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792083268 2 183355638 ACATAGTAGGGAAGGGCTCT A 435 PASS PDE1A CCDS2285.1 r.? - - Del intronic D 183355638 183355658 19 70 801.435 - - 1 1 1 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PDE1A|CCDS2285.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 27 31 27 0 0 ./. 6 9 6 7 29 27 29 29 6 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792084545 2 186576545 AC A 900 PASS - - - - - Del - D 186576545 186576548 1 72 803.242 - - 2 1 1 - - ./. 0 0 0 0 28 26 28 26 0 0 ./. 7 8 9 9 50 34 50 34 9 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792086800 2 191766652 TC T 720 PASS GLS CCDS2308.1 r.? - - Del intronic D 191766652 191766654 1 48 642.593 - - 1 1 1 GLS|CCDS2308.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GLS|CCDS2308.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 20 29 20 0 0 ./. 7 5 7 8 42 31 42 31 7 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792087458 2 193317030 GT G 840 PASS - - - - - Del - D 193317030 193317034 1 63 748.488 - - 3 1 1 - - ./. 0 0 0 0 31 23 31 23 0 0 ./. 6 8 8 8 34 29 34 29 8 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792093755 2 206454805 ATACCAACACATGAATG A 406 PASS PARD3B CCDS42806.1 r.? - - Del intronic D 206454805 206454825 16 63 749.692 - - 1 1 1 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARD3B|CCDS42806.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 33 23 33 0 0 ./. 6 8 6 8 27 42 27 43 6 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792093868 2 206728029 TAC T 600 PASS - - - - - Del - D 206728029 206728035 2 27 535.494 - - 2 1 1 - - ./. 0 0 0 0 22 19 22 19 0 0 ./. 2 8 5 8 30 35 30 35 5 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792096083 2 211267258 TCTG T 1167 PASS - - - - - Del - D 211267258 211267263 3 130 1124.54 - - 1 1 1 - - ./. 0 0 0 0 25 20 25 20 0 0 ./. 9 12 12 13 44 49 44 49 12 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792098046 2 215844860 CTCCATCAGTAACCT C 406 PASS ABCA12 CCDS33372.1 r.? - - Del intronic D 215844860 215844876 14 55 749.692 - - 1 1 1 ABCA12|CCDS33372.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ABCA12|CCDS33372.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 16 29 16 0 0 ./. 10 4 10 6 34 29 34 29 10 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792102509 2 225367454 TA T 1020 PASS CUL3 CCDS2462.1 r.? - - Del intronic D 225367454 225367456 1 88 907.33 - - 1 1 1 CUL3|CCDS2462.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CUL3|CCDS2462.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 42 19 42 0 0 ./. 7 10 9 14 35 50 35 50 9 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792102698 2 225629263 AGT A 300 PASS DOCK10 CCDS46528.1 r.? - - Del downstream D 225629263 225629280 2 10 267.747 - - 8 1 1 DOCK10|CCDS46528.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 DOCK10|CCDS46528.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 21 17 21 17 0 0 ./. 4 1 4 1 48 29 48 29 4 1 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792105481 2 231395140 TAACTC T 676 PASS SP100 CCDS42832.1 r.? - - Del intronic D 231395140 231395149 5 50 696.143 - - 1 1 1 SP100|CCDS42832.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SP100|CCDS42832.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 29 21 29 0 0 ./. 9 4 12 6 47 38 47 38 12 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792106424 2 232996131 AG A 1020 PASS DIS3L2 CCDS42834.1 r.? - - Del intronic D 232996131 232996133 1 88 908.534 - - 1 1 1 DIS3L2|CCDS42834.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DIS3L2|ENST00000409401|r.1580delG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 20 30 20 30 0 0 ./. 7 10 7 11 34 41 34 41 7 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792109811 2 240618817 AG A 569 PASS - - - - - Del - D 240618817 240618820 1 27 535.494 - - 2 1 1 - - ./. 0 0 0 0 21 17 21 17 0 0 ./. 8 2 14 6 34 24 34 24 14 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792117351 20 13581534 AGGAACC A 261 PASS TASP1 CCDS13116.1 r.? - - Del intronic D 13581534 13581541 6 30 487.123 - - 1 1 1 TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TASP1|CCDS13116.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 32 26 32 0 0 ./. 5 4 6 7 28 41 28 41 6 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792117464 20 13752643 ACTA AG 778 PASS ESF1 CCDS13117.1 r.? - - Complex intronic DI 13752644 13752646 3 60 0 - - 0 1 1 ESF1|CCDS13117.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ESF1|CCDS13117.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 22 24 22 24 0 0 ./. 5 9 0 0 34 31 34 32 5 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792120947 20 21549789 ATT A 480 PASS - - - - - Del - D 21549789 21549792 2 24 432.999 - - 2 1 - - - ./. 0 0 0 0 27 25 27 25 0 0 ./. 5 3 11 5 32 32 32 32 11 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792121419 20 23175535 TA T 1589 PASS - - - - - Del - D 23175535 23175537 1 190 1461.37 - - 1 1 1 - - ./. 0 0 0 0 29 24 29 24 0 0 ./. 18 9 18 10 42 28 42 28 18 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792122875 20 25977317 GCA G 329 PASS - - - - - Del - D 25977317 25977335 2 15 324.749 - - 8 1 1 - - ./. 0 0 0 0 30 25 30 25 0 0 ./. 2 4 2 4 34 30 34 30 2 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792127386 20 33902190 GA G 660 PASS UQCC CCDS13252.1 r.? - - Del intronic D 33902190 33902192 1 30 595.373 - - 1 1 1 UQCC|CCDS13252.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 UQCC|CCDS13252.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 15 21 15 0 0 ./. 9 2 13 2 42 17 42 17 13 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792128050 20 34776932 TTTTAAG T 406 PASS EPB41L1 CCDS13271.1 r.? - - Del intronic D 34776932 34776939 6 60 757.748 - - 1 1 1 EPB41L1|CCDS13271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPB41L1|CCDS13271.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 18 20 18 0 0 ./. 5 9 5 12 35 36 35 36 5 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792129165 20 37027086 G GGA 1136 PASS - - - - - Ins - I 37027086 37027091 2 90 1109.53 - - 2 1 1 - - ./. 0 0 0 0 23 29 23 29 0 0 ./. 4 17 5 17 33 52 34 52 5 17 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792132150 20 44404221 TTGGAC T 627 PASS WFDC3 CCDS33478.1 r.593_597delGUCCA c.509_513delGTCCA p.C170fs*1 Del frameshift D 44404221 44404227 5 45 647.692 - - 1 1 1 WFDC3|CCDS33478.1|r.593_597delGUCCA|c.509_513delGTCCA|p.C170fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 WFDC3|CCDS33478.1|r.593_597delGUCCA|c.509_513delGTCCA|p.C170fs*1|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 23 12 23 12 0 0 ./. 8 4 10 8 38 35 38 35 10 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792133235 20 46389910 ATCTCC A 613 PASS SULF2 CCDS13408.1 r.? - - Del intronic D 46389910 46389917 5 108 1027.17 - - 1 1 1 SULF2|CCDS13408.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SULF2|CCDS13408.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 25 19 25 0 0 ./. 11 8 12 8 39 32 39 32 12 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792134926 20 49570041 G GT 300 PASS DPM1 CCDS13434.1 r.? - - Ins intronic I 49570041 49570051 1 6 265.808 - - 9 1 1 DPM1|CCDS13434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 DPM1|CCDS13434.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 36 20 36 20 0 0 ./. 0 5 0 5 49 52 50 52 0 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792135689 20 50849769 AT A 540 PASS - - - - - Del - D 50849769 50849776 1 30 487.123 - - 6 1 1 - - ./. 0 0 0 0 26 26 26 26 0 0 ./. 5 4 9 8 33 33 33 33 9 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792136866 20 52963661 CATCATGTAA C 290 PASS - - - - - Del - D 52963661 52963671 9 35 540.646 - - 1 1 1 - - ./. 0 0 0 0 31 18 31 18 0 0 ./. 4 6 6 7 33 37 33 37 6 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792140163 20 60680591 CAAG C 447 PASS - - - - - Del - D 60680591 60680598 3 24 486.521 - - 2 1 1 - - ./. 0 0 0 0 23 16 23 16 0 0 ./. 2 7 2 7 22 34 22 34 2 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792140377 20 61299715 T TG 540 PASS SLCO4A1 CCDS13501.1 r.? - - Ins intronic I 61299715 61299725 1 30 477.491 - - 9 1 1 SLCO4A1|CCDS13501.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SLCO4A1|CCDS13501.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 18 15 19 15 0 0 ./. 5 4 6 7 27 26 27 26 6 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792146517 21 15697007 A AG 476 PASS - - - - - Ins - I 15697007 15697008 1 35 534.291 - - 0 1 1 - - ./. 0 0 0 0 21 28 21 28 0 0 ./. 4 6 9 9 25 43 25 43 9 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792147023 21 16999319 A ATTGAAAGTAGCAAATTTC 261 PASS - - - - - Ins - I 16999319 16999340 18 28 388.024 - - 1 1 1 - - ./. 0 0 0 0 49 31 49 31 0 0 ./. 6 3 2 2 46 48 53 50 6 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792150136 21 23003999 CA C 720 PASS - - - - - Del - D 23003999 23004007 1 49 645.605 - - 7 1 1 - - ./. 0 0 0 0 21 22 21 22 0 0 ./. 6 6 9 9 36 33 36 33 9 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792150343 21 23527692 TTTGGGGTAC T 493 PASS - - - - - Del - D 23527692 23527703 9 78 920.577 - - 1 1 1 - - ./. 0 0 0 0 42 35 42 35 0 0 ./. 12 5 13 6 43 32 43 32 13 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792151462 21 25644602 AG A 1020 PASS - - - - - Del - D 25644602 25644604 1 88 920.577 - - 1 1 1 - - ./. 0 0 0 0 26 22 26 22 0 0 ./. 7 10 7 10 29 35 29 35 7 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792151624 21 25990652 A AT 600 PASS - - - - - Ins - I 25990652 25990660 1 27 535.495 - - 7 1 1 - - ./. 0 0 0 0 29 22 29 22 0 0 ./. 8 2 12 5 51 31 51 32 12 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792151835 21 26412215 TC T 720 PASS - - - - - Del - D 26412215 26412217 1 45 649.819 - - 1 1 1 - - ./. 0 0 0 0 28 22 28 22 0 0 ./. 4 8 6 11 27 31 27 31 6 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792153334 21 29143070 A AT 1229 PASS - - - - - Ins - I 29143070 29143073 1 126 1122.13 - - 2 1 1 - - ./. 0 0 0 0 27 24 29 24 0 0 ./. 13 8 15 10 46 40 46 40 15 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792154099 21 30773451 T TG 360 PASS BACH1 ENST00000422809 r.? - - Ins intronic I 30773451 30773452 1 16 321.297 - - 0 1 1 BACH1|ENST00000422809|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 BACH1|ENST00000422809|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 30 29 32 29 0 0 ./. 3 3 4 5 35 35 36 35 4 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792154282 21 31207751 TTG T 480 PASS GRIK1 CCDS42913.1 r.? - - Del intronic D 31207751 31207755 2 25 433.213 - - 1 1 1 GRIK1|CCDS42913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRIK1|CCDS42913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 30 30 30 0 0 ./. 4 4 7 5 37 41 37 41 7 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792155581 21 33594239 AT A 840 PASS - - - - - Del - D 33594239 33594242 1 63 758.122 - - 2 1 1 - - ./. 0 0 0 0 30 27 30 27 0 0 ./. 8 6 9 8 39 53 39 53 9 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792158732 21 39136911 ACCTC A 358 PASS KCNJ6 CCDS42927.1 r.? - - Del intronic D 39136911 39136916 4 20 377.255 - - 1 1 1 KCNJ6|CCDS42927.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KCNJ6|CCDS42927.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 20 32 20 0 0 ./. 4 3 5 4 33 44 33 44 5 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792158741 21 39152274 T TG 629 PASS KCNJ6 CCDS42927.1 r.? - - Ins intronic I 39152274 39152279 1 42 588.443 - - 4 1 1 KCNJ6|CCDS42927.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KCNJ6|CCDS42927.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 30 18 30 18 0 0 ./. 6 5 9 6 30 36 30 36 9 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792163459 22 16955861 TACA T 473 PASS - - - - - Del - D 16955861 16955865 3 99 976.519 - - 1 1 1 - - ./. 0 0 0 0 107 111 107 111 0 0 ./. 10 8 10 8 111 147 111 147 10 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792163610 22 17122574 C CGT 676 PASS - - - - - Ins - I 17122574 17122577 2 55 742.858 - - 1 1 1 - - ./. 0 0 0 0 23 20 23 20 0 0 ./. 10 4 12 5 34 24 34 25 12 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792165485 22 19961474 TC T 540 PASS ARVCF CCDS13771.1 r.? - - Del intronic D 19961474 19961477 1 30 489.163 - - 2 1 1 ARVCF|CCDS13771.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ARVCF|CCDS13771.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 19 21 19 0 0 ./. 5 4 11 5 32 26 32 26 11 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792170136 22 28862103 AT A 900 PASS TTC28 CCDS46678.1 r.? - - Del intronic D 28862103 28862106 1 42 815.271 - - 2 1 1 TTC28|CCDS46678.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TTC28|CCDS46678.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 31 18 31 0 0 ./. 13 2 17 6 44 29 44 29 17 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792170302 22 29164859 GT G 780 PASS CCDC117 CCDS13846.1 r.? - - Del upstream D 29164859 29164864 1 56 706.568 - - 4 1 1 CCDC117|CCDS13846.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 CCDC117|CCDS13846.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 27 27 27 27 0 0 ./. 6 7 9 11 33 34 33 34 9 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792170327 22 29191275 CCA C 1109 PASS XBP1 CCDS13847.1 r.1116_1117delUG c.? p.? Del 3'UTR variant D 29191275 29191280 2 108 1032.68 - - 2 1 1 XBP1|CCDS13847.1|r.1116_1117delUG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 XBP1|ENST00000344347|r.1049_1050delUG|c.1017_1018delTG|p.C339fs*11|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 24 22 24 22 0 0 ./. 8 11 10 12 24 30 24 30 10 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792172204 22 32085597 CTG C 780 PASS C22orf30 CCDS13900.2 r.? - - Del intronic D 32085597 32085600 2 50 706.568 - - 1 1 1 C22orf30|CCDS13900.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C22orf30|CCDS13900.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 13 23 13 0 0 ./. 9 4 12 6 38 28 38 28 12 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792174706 22 36585829 AG A 720 PASS APOL4 ENST00000404685 r.2572delC c.? p.? Del 3'UTR variant D 36585829 36585832 1 48 652.217 - - 2 1 1 APOL4|ENST00000404685|r.2572delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 APOL4|ENST00000404685|r.2572delC|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 20 16 20 16 0 0 ./. 7 5 8 9 41 28 41 28 8 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792175594 22 38352061 CTT C 420 PASS POLR2F CCDS13963.1 r.? - - Del intronic D 38352061 38352065 2 18 380.46 - - 3 1 1 POLR2F|CCDS13963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POLR2F|CCDS13963.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 38 26 38 26 0 0 ./. 5 2 11 9 51 46 51 46 11 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792176505 22 39859363 CCTCGGTCACCCAGACCTGTTCCTTCTCT C 435 PASS MGAT3 CCDS13994.2 r.? - - Del intronic D 39859363 39859393 28 66 811.659 - - 1 1 1 MGAT3|CCDS13994.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MGAT3|CCDS13994.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 26 18 26 0 0 ./. 5 10 4 7 25 26 26 29 5 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792180466 22 46431880 GC G 629 PASS - - - - - Del - D 46431880 46431887 1 36 595.457 - - 6 1 1 - - ./. 0 0 0 0 25 21 25 21 0 0 ./. 3 8 4 9 24 39 24 39 4 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792181151 22 47998053 TG T 360 PASS - - - - - Del - D 47998053 47998056 1 15 326.108 - - 2 1 1 - - ./. 0 0 0 0 24 22 24 22 0 0 ./. 4 2 7 3 35 17 35 17 7 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792181559 22 48890517 AG A 660 PASS FAM19A5 CCDS46728.1 r.? - - Del intronic D 48890517 48890519 1 40 597.263 - - 1 1 1 FAM19A5|CCDS46728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM19A5|CCDS46728.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 19 23 19 0 0 ./. 7 4 8 5 19 22 19 22 8 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792184937 3 4857957 TG T 929 PASS ITPR1 CCDS46740.1 r.? - - Del intronic D 4857957 4857959 1 77 858.435 - - 1 1 1 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITPR1|CCDS46740.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 33 34 33 34 0 0 ./. 6 10 8 12 38 35 38 35 8 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792185391 3 5590042 C CT 600 PASS - - - - - Ins - I 5590042 5590049 1 35 530.502 - - 6 1 1 - - ./. 0 0 0 0 22 28 23 28 0 0 ./. 4 6 9 7 38 40 38 40 9 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792186565 3 8144897 A AT 569 PASS - - - - - Ins - I 8144897 8144899 1 32 530.501 - - 1 1 1 - - ./. 0 0 0 0 26 27 26 27 0 0 ./. 7 3 7 6 31 39 31 41 7 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792188107 3 11230241 AG A 840 PASS HRH1 CCDS2604.1 r.? - - Del intronic D 11230241 11230243 1 64 751.131 - - 1 1 1 HRH1|CCDS2604.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 HRH1|CCDS2604.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 32 21 32 0 0 ./. 7 7 9 7 24 29 24 29 9 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792190716 3 16502761 T TA 300 PASS RFTN1 CCDS33712.1 r.? - - Ins intronic I 16502761 16502771 1 12 265.251 - - 9 1 1 RFTN1|CCDS33712.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RFTN1|CCDS33712.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 25 20 25 0 0 ./. 3 2 5 2 32 33 33 35 5 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792190826 3 16730074 TG T 1020 PASS - - - - - Del - D 16730074 16730076 1 90 910.884 - - 1 1 1 - - ./. 0 0 0 0 21 33 21 33 0 0 ./. 8 9 9 10 29 34 29 34 9 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792190934 3 17060014 TC T 420 PASS PLCL2 CCDS33713.1 r.? - - Del intronic D 17060014 17060016 1 20 375.565 - - 1 1 1 PLCL2|CCDS33713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PLCL2|CCDS33713.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 23 17 23 0 0 ./. 4 3 6 8 34 25 34 25 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792192111 3 20141477 TG T 749 PASS KAT2B CCDS2634.1 r.? - - Del intronic D 20141477 20141480 1 44 697.479 - - 2 1 1 KAT2B|CCDS2634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KAT2B|CCDS2634.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 17 31 17 0 0 ./. 3 10 8 10 31 26 31 26 8 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792192238 3 20346714 GC G 720 PASS - - - - - Del - D 20346714 20346720 1 48 643.827 - - 5 1 1 - - ./. 0 0 0 0 21 26 21 26 0 0 ./. 7 5 8 8 35 21 35 21 8 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792193081 3 22438361 TGATA T 527 PASS - - - - - Del - D 22438361 22438366 4 63 747.519 - - 1 1 1 - - ./. 0 0 0 0 30 27 30 27 0 0 ./. 8 6 8 7 36 17 38 17 10 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792194714 3 26189257 TGA T 300 PASS - - - - - Del - D 26189257 26189276 2 12 268.261 - - 9 1 - - - ./. 0 0 0 0 20 16 20 16 0 0 ./. 2 3 2 4 22 30 22 30 2 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792202274 3 44002116 G GTGGAAA 261 PASS - - - - - Ins - I 44002116 44002117 6 30 448.552 - - 0 1 1 - - ./. 0 0 0 0 17 20 17 20 0 0 ./. 5 4 6 4 42 17 42 17 6 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792202679 3 44873214 TAGG T 718 PASS KIF15 CCDS33744.1 r.? - - Del intronic D 44873214 44873220 3 56 696.275 - - 1 1 1 KIF15|CCDS33744.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 KIF15|CCDS33744.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 23 21 23 0 0 ./. 6 7 9 10 35 30 35 30 9 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792215138 3 71029074 AAAC A 565 PASS FOXP1 CCDS2914.1 r.? - - Del intronic D 71029074 71029079 3 48 643.827 - - 1 1 1 FOXP1|CCDS2914.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FOXP1|CCDS2914.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 31 22 31 0 0 ./. 7 5 8 8 47 41 47 41 8 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792216003 3 72652505 TCAAGCAATTCTC T 319 PASS AC103560.1 ENST00000509224 r.? - - Del intronic D 72652505 72652519 12 42 588.97 - - 1 1 1 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 AC103560.1|ENST00000509224|r.?|-|-|non_protein_coding:intron:deletion:intron_variant|SO:0000011:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 14 26 14 0 0 ./. 6 5 6 5 35 20 35 20 6 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792217191 3 75258947 AT A 660 PASS - - - - - Del - D 75258947 75258950 1 40 589.572 - - 2 1 1 - - ./. 0 0 0 0 24 22 24 22 0 0 ./. 7 4 10 5 38 33 38 33 10 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792219052 3 76549355 G GCGTCCTTA 319 PASS ROBO2 ENST00000487694 r.? - - Ins intronic I 76549355 76549356 8 40 537.193 - - 0 1 1 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ROBO2|ENST00000487694|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 32 22 32 22 0 0 ./. 7 4 7 4 36 25 36 25 7 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792224001 3 88895843 G GAC 960 PASS - - - - - Ins - I 88895843 88895847 2 80 838.567 - - 1 1 1 - - ./. 0 0 0 0 33 18 33 18 0 0 ./. 9 7 11 10 39 37 39 38 11 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792224186 3 89323729 AACAG A 598 PASS EPHA3 CCDS2922.1 r.? - - Del intronic D 89323729 89323737 4 42 590.174 - - 1 1 1 EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EPHA3|CCDS2922.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 20 18 20 0 0 ./. 5 6 8 7 41 34 41 34 8 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792224436 3 90041522 G GA 300 PASS - - - - - Ins - I 90041522 90041532 1 6 264.649 - - 9 1 1 - - ./. 0 0 0 0 35 28 35 28 0 0 ./. 5 0 5 0 46 44 46 44 5 0 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792229004 3 104933738 TC T 1109 PASS - - - - - Del - D 104933738 104933740 1 98 1018.79 - - 1 1 1 - - ./. 0 0 0 0 24 30 24 30 0 0 ./. 13 6 17 9 47 46 47 46 17 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792229272 3 105488930 T TG 300 PASS CBLB CCDS2948.1 r.? - - Ins intronic I 105488930 105488931 1 10 265.251 - - 0 1 1 CBLB|CCDS2948.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CBLB|CCDS2948.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 29 33 30 34 0 0 ./. 1 4 2 4 31 55 31 55 2 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792229742 3 106606317 GT G 660 PASS - - - - - Del - D 106606317 106606320 1 40 590.174 - - 2 1 1 - - ./. 0 0 0 0 27 35 27 35 0 0 ./. 7 4 15 8 55 43 55 43 15 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792231797 3 111366491 TG T 720 PASS CD96 CCDS2959.1 r.1759delG c.1628delG p.W543fs*8 Del frameshift D 111366491 111366494 1 45 643.827 - - 2 1 1 CD96|CCDS2959.1|r.1759delG|c.1628delG|p.W543fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CD96|CCDS2959.1|r.1759delG|c.1628delG|p.W543fs*8|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 27 31 27 31 0 0 ./. 4 8 6 10 28 43 28 43 6 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792235583 3 119974812 AAT A 780 PASS GPR156 CCDS2997.1 r.? - - Del intronic D 119974812 119974817 2 56 697.479 - - 2 1 1 GPR156|CCDS2997.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GPR156|CCDS2997.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 20 28 20 0 0 ./. 6 7 10 7 46 42 46 42 10 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792235593 3 119987296 TC T 600 PASS GPR156 CCDS2997.1 r.? - - Del intronic D 119987296 119987298 1 36 536.522 - - 1 1 1 GPR156|CCDS2997.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GPR156|CCDS2997.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 21 24 21 0 0 ./. 5 5 6 7 28 40 28 40 6 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792236402 3 121846466 ACCCAG A 687 PASS - - - - - Del - D 121846466 121846472 5 44 697.479 - - 1 1 1 - - ./. 0 0 0 0 27 21 27 21 0 0 ./. 3 10 7 14 51 36 51 36 7 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792237519 3 124312110 A AT 749 PASS KALRN CCDS3028.1 r.? - - Ins intronic I 124312110 124312112 1 54 684.233 - - 1 1 1 KALRN|CCDS3028.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 KALRN|CCDS3028.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 21 22 21 0 0 ./. 8 5 9 5 40 27 40 27 9 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792239430 3 128592304 G GT 300 PASS - - - - - Ins - I 128592304 128592314 1 12 262.24 - - 9 1 1 - - ./. 0 0 0 0 26 17 26 17 0 0 ./. 2 3 3 3 46 47 48 47 3 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792242352 3 135897688 C CT 600 PASS MSL2 CCDS33861.1 r.? - - Ins intronic I 135897688 135897696 1 35 530.502 - - 7 1 1 MSL2|CCDS33861.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 MSL2|CCDS33861.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 27 28 28 0 0 ./. 4 6 4 8 19 29 20 29 4 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792245716 3 142831383 CAT C 480 PASS - - - - - Del - D 142831383 142831386 2 25 429.218 - - 1 1 1 - - ./. 0 0 0 0 23 25 23 25 0 0 ./. 4 4 7 6 26 30 26 30 7 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792245719 3 142841764 G GT 720 PASS CHST2 CCDS3129.1 r.3490_3491insu c.? p.? Ins 3'UTR variant I 142841764 142841767 1 45 636.602 - - 2 1 1 CHST2|CCDS3129.1|r.3490_3491insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 CHST2|CCDS3129.1|r.3490_3491insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 17 36 17 36 0 0 ./. 4 8 6 10 32 43 33 43 6 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792248465 3 149486622 G GC 960 PASS C3orf16 ENST00000446160 r.? - - Ins intronic I 149486622 149486626 1 72 847.598 - - 3 1 1 C3orf16|ENST00000446160|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 C3orf16|ENST00000446160|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 31 31 32 32 0 0 ./. 5 11 8 14 24 40 24 41 8 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792250485 3 153638649 C CA 300 PASS - - - - - Ins - I 153638649 153638659 1 10 265.251 - - 9 1 1 - - ./. 0 0 0 0 32 31 33 32 0 0 ./. 4 1 4 2 48 42 48 43 4 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792251149 3 155335747 TCCATG T 747 PASS PLCH1 CCDS33881.1 r.? - - Del intronic D 155335747 155335753 5 55 751.131 - - 1 1 1 PLCH1|CCDS33881.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 PLCH1|CCDS33881.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 34 25 34 0 0 ./. 4 10 5 13 37 30 37 30 5 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792251391 3 155712714 AG A 960 PASS - - - - - Del - D 155712714 155712716 1 65 858.435 - - 1 1 1 - - ./. 0 0 0 0 31 22 31 22 0 0 ./. 12 4 14 6 42 23 42 23 14 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792252939 3 159988375 G GA 300 PASS IFT80 CCDS3188.1 r.? - - Ins intronic I 159988375 159988385 1 12 264.047 - - 9 1 1 IFT80|CCDS3188.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 IFT80|CCDS3188.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 21 27 21 28 0 0 ./. 3 2 3 3 57 49 58 49 3 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792255800 3 167475447 CTATAATCCTAGCACTTCGGGAGGTTG C 319 PASS SERPINI1 CCDS3203.1 r.? - - Del intronic D 167475447 167475474 26 40 589.572 - - 1 1 1 SERPINI1|CCDS3203.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 SERPINI1|CCDS3203.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 16 16 16 16 0 0 ./. 4 7 3 5 20 25 21 27 4 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792255808 3 167485692 G GT 660 PASS SERPINI1 CCDS3203.1 r.? - - Ins intronic I 167485692 167485700 1 42 583.552 - - 7 1 1 SERPINI1|CCDS3203.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 SERPINI1|CCDS3203.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 32 23 32 0 0 ./. 5 6 7 9 46 36 46 36 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792258116 3 172381331 GTC G 516 PASS NCEH1 CCDS33893.1 r.? - - Del intronic D 172381331 172381335 2 30 481.064 - - 1 1 1 NCEH1|CCDS33893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NCEH1|CCDS33893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 34 27 34 0 0 ./. 4 5 8 7 28 30 28 30 8 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792260463 3 177698972 TATC T 600 PASS - - - - - Del - D 177698972 177698978 3 32 535.92 - - 1 1 1 - - ./. 0 0 0 0 19 21 19 21 0 0 ./. 3 7 5 8 16 26 16 26 5 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792270756 3 197789869 TC T 900 PASS - - - - - Del - D 197789869 197789871 1 72 803.579 - - 1 1 1 - - ./. 0 0 0 0 24 22 24 22 0 0 ./. 7 8 10 13 41 38 41 38 10 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792271724 4 1830765 AGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG A 269 PASS LETM1 CCDS3355.1 r.? - - Del intronic D 1830765 1831133 356 12 252.445 - - 1 1 1 LETM1|CCDS3355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LETM1|CCDS3355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 21 26 21 0 0 ./. 2 3 0 0 29 24 31 27 2 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792271726 4 1831596 GAC G 300 PASS LETM1 CCDS3355.1 r.? - - Del intronic D 1831596 1831615 2 12 268.099 - - 9 1 1 LETM1|CCDS3355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LETM1|CCDS3355.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 17 23 17 0 0 ./. 2 3 3 4 28 51 28 51 3 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792274300 4 7048256 CTATGTGA C 319 PASS TADA2B CCDS47007.1 r.? - - Del intronic D 7048256 7048265 7 40 589.818 - - 1 1 1 TADA2B|CCDS47007.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TADA2B|CCDS47007.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 17 19 17 0 0 ./. 7 4 8 4 38 11 38 11 8 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792279487 4 19324845 TCTTAGCATG T 348 PASS - - - - - Del - D 19324845 19324856 9 45 643.438 - - 1 1 1 - - ./. 0 0 0 0 25 36 25 36 0 0 ./. 8 4 9 5 34 46 35 46 10 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792283801 4 28687131 TTTC T 896 PASS - - - - - Del - D 28687131 28687139 3 84 910.332 - - 2 1 1 - - ./. 0 0 0 0 24 31 24 31 0 0 ./. 11 6 17 9 41 38 41 38 17 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792283903 4 28859024 GC G 960 PASS - - - - - Del - D 28859024 28859026 1 72 857.917 - - 1 1 1 - - ./. 0 0 0 0 33 20 33 20 0 0 ./. 5 11 9 14 38 42 38 42 9 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792285898 4 33322203 C CAT 480 PASS - - - - - Ins - I 33322203 33322213 2 24 419.325 - - 4 1 - - - ./. 0 0 0 0 26 30 26 30 0 0 ./. 3 5 11 11 35 36 35 36 11 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792288479 4 38959628 GA G 960 PASS - - - - - Del - D 38959628 38959631 1 77 857.315 - - 2 1 1 - - ./. 0 0 0 0 27 37 27 37 0 0 ./. 10 6 14 12 44 42 44 42 14 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792291859 4 44637799 TGGTTCAGCAAACTCTTGTTATATGTGAAACAATCAAACATAAGACACTGTACACTGCAGGCTGACAGCACACATTAAGTGCTAATTATTGCTATTATTCTTCTA T 261 PASS YIPF7 ENST00000332990 r.? - - Del intronic D 44637799 44637905 104 30 482.578 - - 1 1 1 YIPF7|ENST00000332990|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 YIPF7|ENST00000332990|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 27 27 27 27 0 0 ./. 5 4 0 0 20 17 25 21 5 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792292525 4 46409315 GAA G 1380 PASS GABRA2 ENST00000510861 r.? - - Del intronic D 46409315 46409318 2 150 1231.45 - - 2 1 1 GABRA2|ENST00000510861|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 GABRA2|ENST00000510861|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 18 24 18 0 0 ./. 9 14 10 16 32 38 32 38 10 16 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792295047 4 52860031 G GA 660 PASS LRRC66 CCDS43229.1 r.3163_3164insu c.? p.? Ins 3'UTR variant I 52860031 52860034 1 42 579.583 - - 2 1 1 LRRC66|CCDS43229.1|r.3163_3164insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 LRRC66|CCDS43229.1|r.3163_3164insu|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 26 19 26 19 0 0 ./. 5 6 7 10 27 38 27 38 7 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792298022 4 59065290 CAG C 1249 PASS - - - - - Del - D 59065290 59065293 2 132 1125.41 - - 1 1 1 - - ./. 0 0 0 0 26 27 26 27 0 0 ./. 10 11 11 12 39 36 39 36 11 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792298119 4 59424646 GA G 1140 PASS - - - - - Del - D 59424646 59424655 1 110 1018.78 - - 8 1 1 - - ./. 0 0 0 0 19 22 19 22 0 0 ./. 10 9 14 13 35 38 35 38 14 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792300111 4 63855199 ATCATATT A 551 PASS - - - - - Del - D 63855199 63855207 7 110 1018.78 - - 1 1 1 - - ./. 0 0 0 0 28 39 28 39 0 0 ./. 9 10 11 15 34 40 34 40 11 15 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792301414 4 66713845 CT C 900 PASS - - - - - Del - D 66713845 66713847 1 72 804.297 - - 1 1 1 - - ./. 0 0 0 0 27 26 27 26 0 0 ./. 8 7 10 8 39 42 39 42 10 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792301468 4 66801126 A AT 749 PASS - - - - - Ins - I 66801126 66801130 1 56 687.424 - - 3 1 1 - - ./. 0 0 0 0 33 21 33 22 0 0 ./. 7 6 8 9 38 42 38 42 8 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792302731 4 69575221 CCAG C 536 PASS - - - - - Del - D 69575221 69575226 3 36 588.012 - - 1 1 1 - - ./. 0 0 0 0 23 14 23 14 0 0 ./. 8 3 11 4 33 19 33 19 11 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792305700 4 76485207 AAG A 360 PASS C4orf26 CCDS3569.1 r.? - - Del intronic D 76485207 76485225 2 16 320.515 - - 8 1 1 C4orf26|CCDS3569.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C4orf26|CCDS3569.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 19 21 19 0 0 ./. 3 3 3 3 28 39 28 39 3 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792306424 4 77851151 AG A 600 PASS - - - - - Del - D 77851151 77851153 1 36 536.198 - - 1 1 1 - - ./. 0 0 0 0 23 29 23 29 0 0 ./. 5 5 6 6 30 38 30 38 6 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792307756 4 80899242 TGTTTCTTCA T 261 PASS ANTXR2 CCDS47086.1 r.1260_1268delUGAAGAAAC c.1257_1265delTGAAGAAAC p.T422_E424delTEE Del inframe D 80899242 80899253 9 28 481.976 - - 1 1 1 ANTXR2|CCDS47086.1|r.1260_1268delUGAAGAAAC|c.1257_1265delTGAAGAAAC|p.T422_E424delTEE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ANTXR2|CCDS47086.1|r.1260_1268delUGAAGAAAC|c.1257_1265delTGAAGAAAC|p.T422_E424delTEE|protein_coding:CDS:exon:deletion:inframe_variant:inframe_codon_loss|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001650:SO:0001652 ./. 0 0 0 0 18 23 18 23 0 0 ./. 3 6 6 7 27 26 27 26 6 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792310532 4 87096724 G GTA 840 PASS MAPK10 CCDS3612.1 r.? - - Ins intronic I 87096724 87096725 2 64 732.615 - - 0 1 1 MAPK10|CCDS3612.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 MAPK10|CCDS3612.1|r.?|-|-|protein_coding:five_prime_UTR:intron:insertion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 12 23 12 0 0 ./. 7 7 10 10 32 37 32 37 10 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792312631 4 91663242 CAG C 420 PASS FAM190A CCDS47100.1 r.? - - Del intronic D 91663242 91663262 2 18 372.93 - - 9 1 - FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAM190A|CCDS47100.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 23 23 23 0 0 ./. 2 5 2 5 35 40 35 40 2 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792315623 4 99100271 CA C 749 PASS - - - - - Del - D 99100271 99100273 1 54 697.057 - - 1 1 1 - - ./. 0 0 0 0 27 26 27 26 0 0 ./. 8 5 9 5 34 43 34 43 9 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792316567 4 101241473 G GA 300 PASS - - - - - Ins - I 101241473 101241483 1 10 265.089 - - 9 1 1 - - ./. 0 0 0 0 41 33 41 33 0 0 ./. 1 4 1 4 40 41 40 42 1 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792316943 4 102170691 CA C 300 PASS PPP3CA CCDS34037.1 r.? - - Del intronic D 102170691 102170701 1 12 265.691 - - 9 1 1 PPP3CA|CCDS34037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PPP3CA|CCDS34037.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 21 23 21 0 0 ./. 3 2 3 2 46 45 46 45 3 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792317996 4 104911598 AC A 480 PASS - - - - - Del - D 104911598 104911600 1 24 428.958 - - 1 1 1 - - ./. 0 0 0 0 38 19 38 19 0 0 ./. 5 3 7 6 36 36 36 36 7 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792321311 4 112947230 AT A 960 PASS - - - - - Del - D 112947230 112947232 1 80 857.315 - - 1 1 1 - - ./. 0 0 0 0 25 29 25 29 0 0 ./. 7 9 12 9 50 39 50 39 12 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792323309 4 117189878 CTTT C 598 PASS - - - - - Del - D 117189878 117189884 3 40 589.818 - - 5 1 1 - - ./. 0 0 0 0 29 21 29 21 0 0 ./. 4 7 8 11 32 35 32 35 8 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792324178 4 119337358 T TA 1440 PASS - - - - - Ins - I 119337358 119337360 1 165 1272.43 - - 1 1 1 - - ./. 0 0 0 0 25 27 25 27 0 0 ./. 14 10 16 14 49 40 49 40 16 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792327426 4 126315015 A ATT 687 PASS FAT4 CCDS3732.3 r.? - - Ins intronic I 126315015 126315019 2 54 679.598 - - 3 1 1 FAT4|CCDS3732.3|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAT4|CCDS3732.3|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 24 28 25 0 0 ./. 8 5 8 9 33 43 34 43 8 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792327441 4 126349647 GTC G 300 PASS FAT4 CCDS3732.3 r.? - - Del intronic D 126349647 126349663 2 12 267.497 - - 7 1 1 FAT4|CCDS3732.3|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FAT4|CCDS3732.3|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 30 14 30 0 0 ./. 2 3 2 3 36 27 36 27 2 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792327977 4 127624630 TA T 840 PASS - - - - - Del - D 127624630 127624635 1 48 749.473 - - 4 1 - - - ./. 0 0 0 0 18 18 18 18 0 0 ./. 3 11 3 13 19 26 19 26 3 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792329285 4 130614284 CT C 1440 PASS - - - - - Del - D 130614284 130614286 1 169 1286.88 - - 1 1 1 - - ./. 0 0 0 0 27 34 27 34 0 0 ./. 12 12 12 13 39 41 39 41 12 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792334297 4 141621952 TG T 780 PASS TBC1D9 CCDS47136.1 r.? - - Del intronic D 141621952 141621954 1 50 695.853 - - 1 1 1 TBC1D9|CCDS47136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 TBC1D9|CCDS47136.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 15 36 15 36 0 0 ./. 4 9 6 14 17 31 17 31 6 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792342024 4 160185418 T TGA 840 PASS RAPGEF2 CCDS43277.1 r.? - - Ins upstream I 160185418 160185429 2 63 733.819 - - 5 1 1 RAPGEF2|CCDS43277.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 RAPGEF2|ENST00000505478|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 34 26 35 26 0 0 ./. 6 8 8 10 42 38 42 38 8 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792342043 4 160240986 TAA T 780 PASS RAPGEF2 CCDS43277.1 r.? - - Del intronic D 160240986 160240989 2 54 696.455 - - 2 1 1 RAPGEF2|CCDS43277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RAPGEF2|CCDS43277.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 20 30 20 0 0 ./. 5 8 6 8 31 40 31 40 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792342284 4 160715139 AT A 420 PASS - - - - - Del - D 160715139 160715149 1 18 375.339 - - 9 1 1 - - ./. 0 0 0 0 27 32 27 32 0 0 ./. 2 5 2 5 51 46 51 46 2 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792343211 4 162678441 CT C 660 PASS FSTL5 CCDS3802.1 r.? - - Del intronic D 162678441 162678444 1 42 589.216 - - 2 1 1 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 FSTL5|CCDS3802.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 26 21 26 0 0 ./. 5 6 8 10 33 27 33 27 8 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792348182 4 173117715 TGAATCCAGTAGCACATTAAAAAGCTTATCCACCACGATCAAGTCAGCTTCATCCTCAATGCAAGGCTGGTTCAACTTATAC T 336 PASS GALNTL6 CCDS34104.1 r.? - - Del intronic D 173117715 173117797 81 48 643.438 - - 1 1 1 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GALNTL6|CCDS34104.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 23 29 23 0 0 ./. 7 5 0 0 26 26 33 31 7 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792350024 4 177417076 TAC T 663 PASS - - - - - Del - D 177417076 177417079 2 48 750.677 - - 1 1 1 - - ./. 0 0 0 0 27 38 27 38 0 0 ./. 11 3 14 3 39 24 39 24 14 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792352659 4 182642191 GGACAGC G 319 PASS - - - - - Del - D 182642191 182642199 6 42 589.818 - - 1 1 1 - - ./. 0 0 0 0 15 25 15 25 0 0 ./. 5 6 6 9 23 35 25 36 8 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792353715 4 184468562 C CT 600 PASS - - - - - Ins - I 184468562 184468571 1 32 528.371 - - 8 1 1 - - ./. 0 0 0 0 26 29 26 29 0 0 ./. 3 7 4 11 30 29 32 29 4 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792361817 5 7782545 C CTG 720 PASS ADCY2 CCDS3872.2 r.? - - Ins intronic I 7782545 7782549 2 48 629.683 - - 1 1 1 ADCY2|CCDS3872.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ADCY2|CCDS3872.2|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 32 25 33 25 0 0 ./. 5 7 6 9 34 33 34 33 6 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792363367 5 11183015 T TG 449 PASS CTNND2 CCDS3881.1 r.? - - Ins intronic I 11183015 11183018 1 24 423.802 - - 2 1 1 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 31 24 33 0 0 ./. 3 5 7 8 28 30 28 30 7 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792363474 5 11494942 AT A 689 PASS CTNND2 CCDS3881.1 r.? - - Del intronic D 11494942 11494944 1 49 644.734 - - 1 1 1 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CTNND2|CCDS3881.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 40 28 40 0 0 ./. 6 6 6 10 44 46 44 46 6 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792365208 5 15945674 GT G 989 PASS - - - - - Del - D 15945674 15945678 1 84 913.373 - - 3 1 1 - - ./. 0 0 0 0 22 23 22 23 0 0 ./. 11 6 12 7 33 26 33 26 12 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792368815 5 23054717 TAAAA T 540 PASS - - - - - Del - D 23054717 23054724 4 30 483.551 - - 6 1 1 - - ./. 0 0 0 0 23 31 23 31 0 0 ./. 4 5 5 7 23 29 23 29 5 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792373289 5 32137009 ACAA ATT 567 PASS GOLPH3 CCDS3896.1 r.? - - Complex intronic DI 32137010 32137012 3 42 0 - - 0 1 1 GOLPH3|CCDS3896.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 GOLPH3|CCDS3896.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 24 30 24 30 0 0 ./. 5 6 0 0 39 50 39 50 5 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792374526 5 34467835 AAG A 597 PASS - - - - - Del - D 34467835 34467839 2 32 537.279 - - 1 1 1 - - ./. 0 0 0 0 23 17 23 17 0 0 ./. 3 7 4 8 25 36 25 36 4 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792376409 5 38462796 CAT C 600 PASS EGFLAM CCDS3924.1 r.? - - Del intronic D 38462796 38462799 2 35 536.074 - - 1 1 1 EGFLAM|CCDS3924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EGFLAM|CCDS3924.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 26 22 26 0 0 ./. 4 6 5 7 24 29 24 29 5 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792379171 5 45085861 AT A 420 PASS - - - - - Del - D 45085861 45085863 1 20 376.095 - - 1 1 1 - - ./. 0 0 0 0 27 28 27 28 0 0 ./. 3 4 6 7 33 34 33 34 6 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792379530 5 46260646 TA T 780 PASS - - - - - Del - D 46260646 46260652 1 50 692.441 - - 5 1 1 - - ./. 0 0 0 0 33 29 33 29 0 0 ./. 4 9 5 14 28 43 28 43 5 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792380675 5 52126819 AGT A 626 PASS ITGA1 CCDS3955.1 r.? - - Del intronic D 52126819 52126825 2 40 591.006 - - 2 1 1 ITGA1|CCDS3955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ITGA1|CCDS3955.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 21 20 21 0 0 ./. 7 4 10 5 26 27 26 27 10 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792383424 5 57522472 A AT 389 PASS - - - - - Ins - I 57522472 57522480 1 18 371.881 - - 7 1 1 - - ./. 0 0 0 0 32 19 32 19 0 0 ./. 5 2 10 5 37 37 37 38 10 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792385706 5 63360359 TAGA T 987 PASS - - - - - Del - D 63360359 63360366 3 84 967.101 - - 2 1 1 - - ./. 0 0 0 0 19 35 19 35 0 0 ./. 5 13 5 13 25 33 25 33 5 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792386147 5 64618312 AT A 660 PASS ADAMTS6 CCDS3983.2 r.? - - Del intronic D 64618312 64618315 1 30 591.006 - - 2 1 1 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ADAMTS6|CCDS3983.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 26 32 26 0 0 ./. 2 9 9 16 39 40 39 40 9 16 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792387742 5 67756229 A ATTCTCTTATTATATTTAATGTTG 435 PASS - - - - - Ins - I 67756229 67756254 23 70 598.207 - - 1 1 1 - - ./. 0 0 0 0 32 29 33 29 0 0 ./. 6 9 0 4 30 47 36 52 6 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792390367 5 74369247 CAGA CAA 720 PASS ANKRD31 CCDS47233.1 r.? - - Complex intronic DI 74369248 74369250 3 45 0 - - 0 1 1 ANKRD31|CCDS47233.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ANKRD31|CCDS47233.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 25 23 25 23 0 0 ./. 8 4 0 0 36 25 36 25 8 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792397997 5 91086822 AG A 1020 PASS - - - - - Del - D 91086822 91086824 1 88 904.945 - - 1 1 1 - - ./. 0 0 0 0 25 31 25 31 0 0 ./. 10 7 12 9 37 38 37 38 12 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792398746 5 93473798 TG T 704 PASS - - - - - Del - D 93473798 93473802 1 45 644.132 - - 3 1 1 - - ./. 0 0 0 0 21 36 21 36 0 0 ./. 4 8 7 9 22 37 22 37 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792399137 5 94517307 TGA T 360 PASS MCTP1 ENST00000515393 r.? - - Del intronic D 94517307 94517326 2 16 322.367 - - 9 1 1 MCTP1|ENST00000515393|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MCTP1|ENST00000515393|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 19 22 19 0 0 ./. 3 3 3 4 48 46 48 46 3 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792409472 5 123533393 GC G 780 PASS - - - - - Del - D 123533393 123533396 1 56 698.462 - - 2 1 1 - - ./. 0 0 0 0 20 27 20 27 0 0 ./. 6 7 7 9 23 25 23 25 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792413708 5 135050185 CAGTGGAAGCCA C 406 PASS - - - - - Del - D 135050185 135050198 11 63 751.588 - - 1 1 1 - - ./. 0 0 0 0 21 16 21 16 0 0 ./. 6 8 6 8 18 16 18 16 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792416495 5 141968863 GTC G 987 PASS FGF1 CCDS4275.1 r.? - - Del downstream D 141968863 141968867 2 96 965.897 - - 1 1 1 FGF1|CCDS4275.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 FGF1|CCDS4275.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 21 18 21 18 0 0 ./. 7 11 7 12 19 25 19 25 7 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792420027 5 152156785 GC G 780 PASS - - - - - Del - D 152156785 152156787 1 44 698.462 - - 1 1 1 - - ./. 0 0 0 0 30 28 30 28 0 0 ./. 10 3 12 9 24 23 24 23 12 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792429704 5 176138712 AGGGCG A 356 PASS - - - - - Del - D 176138712 176138718 5 24 429.823 - - 1 1 1 - - ./. 0 0 0 0 22 19 22 19 0 0 ./. 5 3 9 3 27 18 27 18 9 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792435756 6 7241569 TC T 600 PASS RREB1 CCDS34335.1 r.? - - Del intronic D 7241569 7241572 1 32 524.843 - - 2 1 1 RREB1|CCDS34335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RREB1|CCDS34335.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 23 21 23 0 0 ./. 3 7 9 8 27 20 27 20 9 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792436824 6 9039044 GTAA G 478 PASS - - - - - Del - D 9039044 9039048 3 28 482.593 - - 1 1 1 - - ./. 0 0 0 0 27 24 27 24 0 0 ./. 3 6 6 7 23 33 23 33 6 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792442198 6 18835790 GA G 780 PASS - - - - - Del - D 18835790 18835796 1 56 697.949 - - 5 1 1 - - ./. 0 0 0 0 32 30 32 30 0 0 ./. 7 6 10 9 39 42 39 42 10 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792442252 6 19086831 GGA G 1037 PASS - - - - - Del - D 19086831 19086834 2 100 964.585 - - 1 1 1 - - ./. 0 0 0 0 37 33 37 33 0 0 ./. 9 9 12 9 38 30 38 30 12 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792442385 6 19399575 CAG C 300 PASS - - - - - Del - D 19399575 19399593 2 12 268.442 - - 8 1 1 - - ./. 0 0 0 0 25 29 25 29 0 0 ./. 3 2 4 2 31 29 31 29 4 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792443233 6 21028156 C CT 600 PASS CDKAL1 CCDS4546.1 r.? - - Ins intronic I 21028156 21028160 1 36 530.261 - - 3 1 1 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CDKAL1|CCDS4546.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 23 28 23 0 0 ./. 5 5 9 6 35 27 35 27 9 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792444661 6 23610990 AG A 1080 PASS - - - - - Del - D 23610990 23610993 1 99 966.391 - - 2 1 1 - - ./. 0 0 0 0 30 29 30 29 0 0 ./. 8 10 11 13 48 50 48 50 11 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792445397 6 24865018 T TG 629 PASS FAM65B CCDS47383.1 r.? - - Ins intronic I 24865018 24865020 1 42 581.541 - - 1 1 1 FAM65B|CCDS47383.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM65B|CCDS47383.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 22 20 23 21 0 0 ./. 6 5 10 7 32 33 33 33 10 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792445417 6 24931439 AG A 1320 PASS - - - - - Del - D 24931439 24931441 1 140 1170.91 - - 1 1 1 - - ./. 0 0 0 0 19 25 19 25 0 0 ./. 9 13 13 18 57 59 57 59 13 18 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792459023 6 49184400 ATACAATTA ACAC 464 PASS - - - - - Complex - DI 49184401 49184408 8 80 0 - - 0 1 1 - - ./. 0 0 0 0 24 28 24 28 0 0 ./. 7 9 0 0 39 37 39 37 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792464424 6 62311324 CTTA C 591 PASS - - - - - Del - D 62311324 62311330 3 36 536.884 - - 1 1 1 - - ./. 0 0 0 0 17 23 17 23 0 0 ./. 5 5 7 6 34 28 34 28 7 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792465186 6 64084075 G GA 300 PASS - - - - - Ins - I 64084075 64084085 1 10 265.432 - - 9 1 1 - - ./. 0 0 0 0 31 27 31 28 0 0 ./. 1 4 1 4 35 43 35 43 1 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792466700 6 67288946 GA G 660 PASS - - - - - Del - D 67288946 67288951 1 40 590.572 - - 4 1 1 - - ./. 0 0 0 0 30 24 30 24 0 0 ./. 4 7 8 8 45 34 45 34 8 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792467097 6 67930130 TC T 660 PASS - - - - - Del - D 67930130 67930137 1 40 586.358 - - 6 1 1 - - ./. 0 0 0 0 24 24 24 24 0 0 ./. 7 4 8 4 25 15 25 15 8 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792469316 6 73097302 GC G 960 PASS RIMS1 CCDS47449.1 r.? - - Del intronic D 73097302 73097305 1 72 854.198 - - 2 1 1 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RIMS1|CCDS47449.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 35 22 35 22 0 0 ./. 11 5 12 6 38 21 38 21 12 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792471402 6 77650930 C CA 720 PASS - - - - - Ins - I 77650930 77650937 1 48 634.026 - - 6 1 1 - - ./. 0 0 0 0 31 30 31 30 0 0 ./. 7 5 12 6 32 35 33 35 12 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792471834 6 78725103 A AC 960 PASS - - - - - Ins - I 78725103 78725105 1 72 840.952 - - 1 1 1 - - ./. 0 0 0 0 32 33 32 33 0 0 ./. 5 11 6 13 27 40 29 40 6 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792475192 6 86901066 T TA 1020 PASS - - - - - Ins - I 86901066 86901072 1 90 902.468 - - 5 1 1 - - ./. 0 0 0 0 23 35 23 36 0 0 ./. 8 9 10 10 34 44 34 45 10 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792477618 6 92329142 GTA G 420 PASS - - - - - Del - D 92329142 92329157 2 14 375.819 - - 7 1 - - - ./. 0 0 0 0 27 31 27 31 0 0 ./. 1 6 1 6 33 42 33 42 1 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792479511 6 97145074 G GA 900 PASS AL132776.1 ENST00000500007 r.? - - Ins upstream I 97145074 97145081 1 70 795.091 - - 6 1 1 AL132776.1|ENST00000500007|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 AL132776.1|ENST00000500007|r.?|-|-|non_protein_coding:insertion:5KB_upstream_variant|SO:0000011:SO:0000667:SO:0001635 ./. 0 0 0 0 35 30 35 30 0 0 ./. 6 9 10 12 42 39 43 39 10 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792484288 6 107893083 TAAAG T 1016 PASS SOBP CCDS43488.1 r.? - - Del intronic D 107893083 107893091 4 110 1020.08 - - 1 1 1 SOBP|CCDS43488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SOBP|CCDS43488.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 13 25 13 0 0 ./. 10 9 13 10 48 30 48 30 13 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792486917 6 113394247 TATAC T 509 PASS - - - - - Del - D 113394247 113394253 4 30 483.195 - - 1 1 1 - - ./. 0 0 0 0 30 37 30 37 0 0 ./. 5 4 9 9 41 37 41 37 9 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792487615 6 114814469 G GT 1140 PASS - - - - - Ins - I 114814469 114814471 1 80 1006.83 - - 1 1 1 - - ./. 0 0 0 0 33 24 34 24 0 0 ./. 15 4 16 6 43 36 44 36 16 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792488250 6 116550954 T TCC 540 PASS NT5DC1 CCDS5104.1 r.? - - Ins intronic I 116550954 116550957 2 30 471.154 - - 2 1 - NT5DC1|CCDS5104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NT5DC1|CCDS5104.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 19 24 19 24 0 0 ./. 4 5 6 6 42 27 42 29 6 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792488544 6 117196168 AT A 629 PASS RFX6 CCDS5113.1 r.? - - Del upstream D 117196168 117196174 1 40 590.572 - - 5 1 1 RFX6|CCDS5113.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 RFX6|CCDS5113.1|r.?|-|-|protein_coding:deletion:5KB_upstream_variant|SO:0000010:SO:0000159:SO:0001635 ./. 0 0 0 0 25 31 25 31 0 0 ./. 7 4 9 13 39 50 39 50 9 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792488548 6 117199380 GC G 720 PASS RFX6 CCDS5113.1 r.? - - Del intronic D 117199380 117199382 1 49 644.261 - - 1 1 1 RFX6|CCDS5113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RFX6|CCDS5113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 22 30 22 0 0 ./. 6 6 9 10 41 43 42 43 9 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792488549 6 117199455 GT G 598 PASS RFX6 CCDS5113.1 r.? - - Del intronic D 117199455 117199461 1 36 590.572 - - 5 1 1 RFX6|CCDS5113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 RFX6|CCDS5113.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 33 24 33 0 0 ./. 8 3 10 6 31 32 31 32 10 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792490301 6 121315903 CCCTCATTG C 348 PASS - - - - - Del - D 121315903 121315918 8 48 644.261 - - 1 1 1 - - ./. 0 0 0 0 34 25 34 25 0 0 ./. 5 7 7 10 25 29 25 29 7 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792493626 6 129771017 AGCTC A 660 PASS LAMA2 CCDS5138.1 r.? - - Del intronic D 129771017 129771022 4 40 584.552 - - 1 1 1 LAMA2|CCDS5138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 LAMA2|CCDS5138.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 19 23 19 0 0 ./. 4 7 7 8 34 21 34 21 7 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792495490 6 134079777 T TA 300 PASS - - - - - Ins - I 134079777 134079786 1 12 265.432 - - 8 1 1 - - ./. 0 0 0 0 24 14 24 14 0 0 ./. 3 2 4 3 44 44 45 44 4 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792496364 6 135803229 GGTGTATTGTTTCCACACAGTCTACAAAGTTTT G 580 PASS AHI1 CCDS47483.1 r.? - - Del intronic D 135803229 135803262 32 117 1073.17 - - 1 1 1 AHI1|CCDS47483.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 AHI1|CCDS47483.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 26 23 26 0 0 ./. 8 12 7 7 36 36 37 41 8 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792497224 6 137773776 ATAGCGTTTG A 406 PASS - - - - - Del - D 137773776 137773786 9 55 751.637 - - 1 1 1 - - ./. 0 0 0 0 37 32 37 32 0 0 ./. 10 4 11 7 45 41 45 41 11 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792498742 6 140980691 AAGTAGTATAAT A 522 PASS - - - - - Del - D 140980691 140980705 11 100 966.391 - - 1 1 1 - - ./. 0 0 0 0 31 20 31 20 0 0 ./. 9 9 11 10 38 35 38 35 11 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792502176 6 149559550 CTGGGGTTCCAAATCG C 319 PASS - - - - - Del - D 149559550 149559566 15 36 589.97 - - 1 1 1 - - ./. 0 0 0 0 20 22 20 22 0 0 ./. 8 3 8 3 37 24 37 24 8 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792505236 6 155368846 AGAGAGAGAGAGAGC A 260 PASS - - - - - Del - D 155368846 155368874 14 15 322.13 - - 1 1 - - - ./. 0 0 0 0 14 12 14 12 0 0 ./. 2 4 0 0 21 14 21 14 2 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792506282 6 157967951 AGCTGAAATGTGAGCTTTGGCTCCCAAAGCAAGGCTAGTGATTTAGGAAGCGCCTCTTCC A 406 PASS ZDHHC14 CCDS5252.1 r.? - - Del intronic D 157967951 157968011 59 63 745.617 - - 1 1 1 ZDHHC14|CCDS5252.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZDHHC14|CCDS5252.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 30 24 30 0 0 ./. 6 8 0 0 26 17 32 25 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792507874 6 160760855 TG T 937 PASS - - - - - Del - D 160760855 160760857 1 77 859.014 - - 1 1 1 - - ./. 0 0 0 0 30 25 30 25 0 0 ./. 10 6 12 6 38 35 38 35 12 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792508352 6 161863860 GTAACAACTAAACATAACAT G 261 PASS PARK2 CCDS5281.1 r.? - - Del intronic D 161863860 161863881 19 24 483.195 - - 1 1 1 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 PARK2|CCDS5281.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 31 22 31 0 0 ./. 7 2 7 4 24 28 25 28 8 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792509840 6 165082466 AT A 600 PASS ENSG00000237744 ENST00000425920 r.? - - Del intronic D 165082466 165082471 1 35 536.884 - - 4 1 1 ENSG00000237744|ENST00000425920|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000237744|ENST00000425920|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 31 28 31 0 0 ./. 6 4 9 8 35 34 35 34 9 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792514028 7 3807402 TG T 720 PASS SDK1 CCDS34590.1 r.? - - Del intronic D 3807402 3807404 1 45 643.282 - - 1 1 1 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SDK1|CCDS34590.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 32 23 32 0 0 ./. 4 8 7 11 40 41 40 41 7 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792518534 7 12219730 TA T 1080 PASS - - - - - Del - D 12219730 12219732 1 99 966.729 - - 1 1 1 - - ./. 0 0 0 0 20 29 20 29 0 0 ./. 10 8 11 12 38 40 38 40 11 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792520660 7 16683879 AG A 1049 PASS ANKMY2 CCDS5361.1 r.? - - Del intronic D 16683879 16683881 1 100 966.127 - - 1 1 1 ANKMY2|CCDS5361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANKMY2|CCDS5361.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 23 25 23 25 0 0 ./. 9 9 11 13 36 41 36 41 11 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792522690 7 21384203 CCTCTTTGCCTGGGTAT C 261 PASS - - - - - Del - D 21384203 21384221 16 30 483.364 - - 1 1 1 - - ./. 0 0 0 0 25 26 25 26 0 0 ./. 5 4 4 4 29 24 30 24 5 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792524402 7 24751734 AGAATGG A 435 PASS DFNA5 CCDS5389.1 r.? - - Del intronic D 24751734 24751741 6 72 805.607 - - 1 1 1 DFNA5|CCDS5389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DFNA5|CCDS5389.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 25 25 25 0 0 ./. 8 7 13 8 45 30 45 30 13 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792524599 7 25166758 TTGATTATTAAA T 435 PASS CYCS CCDS5393.1 r.? - - Del upstream D 25166758 25166772 11 70 805.607 - - 1 1 1 CYCS|CCDS5393.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 CYCS|CCDS5393.1|r.?|-|-|protein_coding:deletion:2KB_upstream_variant|SO:0000010:SO:0000159:SO:0001636 ./. 0 0 0 0 29 25 29 25 0 0 ./. 9 6 10 6 56 55 56 55 10 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792525108 7 26420762 A AT 629 PASS - - - - - Ins - I 26420762 26420771 1 42 582.952 - - 8 1 1 - - ./. 0 0 0 0 29 26 29 26 0 0 ./. 5 6 4 7 30 26 31 26 5 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792525268 7 26845492 CT C 480 PASS SKAP2 CCDS5400.1 r.? - - Del intronic D 26845492 26845495 1 21 429.657 - - 2 1 1 SKAP2|CCDS5400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SKAP2|CCDS5400.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 23 30 23 0 0 ./. 6 2 8 6 36 22 36 22 8 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792525383 7 27077551 CT C 1200 PASS - - - - - Del - D 27077551 27077555 1 120 1127.85 - - 3 1 1 - - ./. 0 0 0 0 25 23 25 23 0 0 ./. 14 7 16 9 55 30 55 30 16 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792526959 7 30328523 CG C 800 PASS ZNRF2 CCDS5426.1 r.? - - Del intronic D 30328523 30328525 1 70 798.985 - - 1 1 1 ZNRF2|CCDS5426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZNRF2|CCDS5426.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 41 24 41 24 0 0 ./. 9 6 10 11 39 46 39 46 10 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792528541 7 34092563 AG A 300 PASS BMPER CCDS5442.1 r.? - - Del intronic D 34092563 34092565 1 12 268.536 - - 1 1 1 BMPER|CCDS5442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 BMPER|CCDS5442.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 21 25 21 0 0 ./. 2 3 4 5 29 25 29 25 4 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792528653 7 34517625 AG A 1020 PASS - - - - - Del - D 34517625 34517627 1 84 913.022 - - 1 1 1 - - ./. 0 0 0 0 20 29 20 29 0 0 ./. 11 6 12 11 32 37 32 37 12 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792528737 7 34735707 A AC 300 PASS NPSR1 CCDS5444.1 r.? - - Ins intronic I 34735707 34735708 1 12 260.709 - - 0 1 - NPSR1|CCDS5444.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 NPSR1|CCDS5444.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 21 25 21 0 0 ./. 3 2 6 4 44 30 44 30 6 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792530722 7 39251918 TTATG T 267 PASS POU6F2 CCDS34620.2 r.? - - Del intronic D 39251918 39251923 4 7 322.243 - - 1 1 1 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 POU6F2|CCDS34620.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 35 27 35 27 0 0 ./. 6 0 8 1 30 23 30 23 8 1 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792531322 7 40228907 CT C 600 PASS C7orf10 ENST00000309930 r.? - - Del intronic D 40228907 40228909 1 20 532.255 - - 1 1 1 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 C7orf10|ENST00000309930|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 14 36 14 36 0 0 ./. 1 9 5 14 20 49 20 49 5 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792532230 7 42430729 TGAATCAGAAACTCTAGG T 435 PASS - - - - - Del - D 42430729 42430749 17 52 805.607 - - 1 1 1 - - ./. 0 0 0 0 19 12 19 12 0 0 ./. 3 12 5 12 25 29 25 29 5 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792533318 7 44694838 TC T 569 PASS OGDH CCDS34627.1 r.? - - Del intronic D 44694838 44694840 1 36 535.867 - - 1 1 1 OGDH|CCDS34627.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OGDH|CCDS34627.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 18 32 18 32 0 0 ./. 5 5 8 7 22 47 22 47 8 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792534671 7 47769931 G GT 300 PASS - - - - - Ins - I 47769931 47769941 1 10 265.525 - - 9 1 1 - - ./. 0 0 0 0 33 28 33 28 0 0 ./. 4 1 4 1 46 38 46 39 4 1 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792536426 7 52032271 CT C 720 PASS - - - - - Del - D 52032271 52032274 1 48 644.486 - - 2 1 1 - - ./. 0 0 0 0 24 34 24 34 0 0 ./. 5 7 6 9 32 38 32 38 6 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792540973 7 61840375 CTTAC CAG 668 PASS - - - - - Complex - DI 61840376 61840379 4 63 0 - - 0 1 1 - - ./. 0 0 0 0 20 27 20 27 0 0 ./. 6 8 0 0 28 44 28 44 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792541252 7 62099497 GT G 514 PASS - - - - - Del - D 62099497 62099507 1 35 537.072 - - 9 1 1 - - ./. 0 0 0 0 26 25 26 25 0 0 ./. 6 4 9 8 36 40 36 40 9 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792541515 7 62927130 TTCAAAA T 344 PASS - - - - - Del - D 62927130 62927138 6 60 751.9 - - 1 1 1 - - ./. 0 0 0 0 28 12 28 12 0 0 ./. 9 5 10 6 32 24 32 24 10 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792542143 7 64036972 TTAAG TTG 644 PASS - - - - - Complex - DI 64036973 64036976 4 48 0 - - 0 1 1 - - ./. 0 0 0 0 8 30 8 30 0 0 ./. 5 7 0 0 15 35 15 35 5 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792550275 7 76539741 GT G 845 PASS - - - - - Del - D 76539741 76539747 1 70 804.403 - - 5 1 1 - - ./. 0 0 0 0 27 28 27 28 0 0 ./. 6 9 13 14 38 50 38 50 13 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792552500 7 81155054 CT C 840 PASS - - - - - Del - D 81155054 81155060 1 60 751.9 - - 5 1 1 - - ./. 0 0 0 0 40 22 40 22 0 0 ./. 5 9 6 10 32 44 32 44 6 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792552948 7 82165150 GT G 1138 PASS - - - - - Del - D 82165150 82165153 1 96 1074.14 - - 2 1 1 - - ./. 0 0 0 0 24 17 24 17 0 0 ./. 15 5 18 7 40 23 40 23 18 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792554919 7 86946699 AG A 1200 PASS - - - - - Del - D 86946699 86946701 1 112 1070.53 - - 1 1 1 - - ./. 0 0 0 0 15 22 15 22 0 0 ./. 7 13 9 14 24 36 24 36 9 14 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792556005 7 89561590 TAAG T 898 PASS - - - - - Del - D 89561590 89561596 3 77 859.315 - - 1 1 1 - - ./. 0 0 0 0 31 29 31 29 0 0 ./. 6 10 8 11 43 36 43 36 8 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792558914 7 96734479 CA C 538 PASS - - - - - Del - D 96734479 96734482 1 32 502.152 - - 2 1 1 - - ./. 0 0 0 0 23 18 23 18 0 0 ./. 7 3 14 4 47 17 47 17 14 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792562244 7 101837148 CGTCCGAGGGCGCT C 290 PASS CUX1 CCDS5721.1 r.1142_1154delGUCCGAGGGCGCU c.1104_1116delGTCCGAGGGCGCT p.S369fs*34 Del frameshift D 101837148 101837163 13 27 537.072 - - 1 1 1 CUX1|CCDS5721.1|r.1142_1154delGUCCGAGGGCGCU|c.1104_1116delGTCCGAGGGCGCT|p.S369fs*34|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 CUX1|CCDS5721.1|r.1142_1154delGUCCGAGGGCGCU|c.1104_1116delGTCCGAGGGCGCT|p.S369fs*34|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 29 18 29 18 0 0 ./. 8 2 8 3 49 21 49 21 8 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792563705 7 104745872 TTTC T 412 PASS MLL5 CCDS34723.1 r.? - - Del intronic D 104745872 104745878 3 36 590.779 - - 1 1 1 MLL5|CCDS34723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MLL5|CCDS34723.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 23 32 23 0 0 ./. 8 3 0 0 36 25 36 25 8 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792566462 7 110997957 GAA G 660 PASS IMMP2L CCDS5753.1 r.? - - Del intronic D 110997957 110997960 2 42 590.779 - - 2 1 1 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IMMP2L|CCDS5753.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 35 32 35 0 0 ./. 6 5 10 7 31 25 31 25 10 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792566585 7 111317129 ACATGGAG A 406 PASS - - - - - Del - D 111317129 111317137 7 63 750.094 - - 1 1 1 - - ./. 0 0 0 0 20 25 20 25 0 0 ./. 8 6 9 9 35 30 35 30 9 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792569533 7 118734256 ATTT A 867 PASS - - - - - Del - D 118734256 118734261 3 80 859.315 - - 4 1 1 - - ./. 0 0 0 0 37 22 37 22 0 0 ./. 9 7 11 9 36 34 36 34 11 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792571548 7 123710492 C CA 449 PASS - - - - - Ins - I 123710492 123710494 1 24 420.024 - - 1 1 1 - - ./. 0 0 0 0 29 32 29 32 0 0 ./. 3 5 6 5 32 34 32 34 6 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792572931 7 126832581 GTTTGTGCT G 319 PASS GRM8 CCDS5794.1 r.? - - Del intronic D 126832581 126832592 8 42 590.779 - - 1 1 1 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 GRM8|CCDS5794.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 19 24 19 24 0 0 ./. 6 5 10 5 30 31 30 31 10 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792573385 7 127976032 CTCTTCCTCTCTGCCCT C 406 PASS RBM28 CCDS5801.1 r.777_792del16 c.662_677del16 p.K221fs*32 Del frameshift D 127976032 127976053 16 63 751.9 - - 1 1 1 RBM28|CCDS5801.1|r.777_792del16|c.662_677del16|p.K221fs*32|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 RBM28|CCDS5801.1|r.777_792del16|c.662_677del16|p.K221fs*32|protein_coding:CDS:exon:deletion:frameshift_variant|SO:0000010:SO:0000316:SO:0000147:SO:0000159:SO:0001589 ./. 0 0 0 0 24 26 24 29 0 0 ./. 6 8 6 8 28 33 28 33 6 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792576054 7 132411768 CT C 360 PASS ENSG00000183470 ENST00000332558 r.? - - Del intronic D 132411768 132411770 1 15 321.039 - - 1 1 1 ENSG00000183470|ENST00000332558|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000183470|ENST00000332558|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 19 20 19 0 0 ./. 4 2 8 4 36 24 36 24 8 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792576563 7 133510365 TC T 840 PASS EXOC4 CCDS5829.1 r.? - - Del intronic D 133510365 133510369 1 60 751.9 - - 3 1 1 EXOC4|CCDS5829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 EXOC4|CCDS5829.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 20 26 20 26 0 0 ./. 9 5 12 10 52 47 52 47 12 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792577761 7 135945761 CATT C 629 PASS - - - - - Del - D 135945761 135945769 3 40 590.779 - - 2 1 1 - - ./. 0 0 0 0 27 18 27 18 0 0 ./. 4 7 7 9 40 32 40 32 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792581460 7 143202135 C CTG 840 PASS - - - - - Ins - I 143202135 143202138 2 60 735.043 - - 1 1 1 - - ./. 0 0 0 0 29 21 29 21 0 0 ./. 5 9 7 11 32 37 33 37 7 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792582405 7 146051837 T TA 629 PASS CNTNAP2 CCDS5889.1 r.? - - Ins intronic I 146051837 146051840 1 42 584.156 - - 2 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 27 27 28 29 0 0 ./. 5 6 8 8 32 28 32 28 8 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792582965 7 147457349 AG A 300 PASS CNTNAP2 CCDS5889.1 r.? - - Del intronic D 147457349 147457351 1 12 257.097 - - 1 1 1 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTNAP2|CCDS5889.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 25 32 25 32 0 0 ./. 3 2 4 3 37 36 37 36 4 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792583428 7 148270571 T TA 480 PASS - - - - - Ins - I 148270571 148270581 1 24 423.035 - - 9 1 1 - - ./. 0 0 0 0 21 29 21 30 0 0 ./. 3 5 7 9 40 34 40 34 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792585920 7 152313767 A AT 300 PASS - - - - - Ins - I 152313767 152313768 1 6 265.525 - - 0 1 1 - - ./. 0 0 0 0 22 30 22 30 0 0 ./. 0 5 1 5 34 52 35 53 1 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792586205 7 152721533 CCT C 300 PASS - - - - - Del - D 152721533 152721547 2 6 268.536 - - 6 1 1 - - ./. 0 0 0 0 33 18 33 18 0 0 ./. 5 0 5 0 35 20 35 20 5 0 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792586469 7 153290789 CA C 780 PASS - - - - - Del - D 153290789 153290794 1 56 696.387 - - 4 1 1 - - ./. 0 0 0 0 40 22 40 22 0 0 ./. 6 7 6 11 34 31 34 31 6 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792586920 7 154400955 ACAG A 598 PASS DPP6 ENST00000404039 r.? - - Del intronic D 154400955 154400961 3 36 589.575 - - 1 1 1 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 DPP6|ENST00000404039|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 34 23 34 23 0 0 ./. 8 3 10 5 34 27 34 27 10 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792591338 8 4546992 G GA 660 PASS - - - - - Ins - I 4546992 4546999 1 36 585.068 - - 6 1 1 - - ./. 0 0 0 0 28 39 30 39 0 0 ./. 3 8 5 10 36 38 37 38 5 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792591442 8 4768871 A AT 360 PASS - - - - - Ins - I 4768871 4768877 1 7 319.128 - - 5 1 1 - - ./. 0 0 0 0 35 20 35 20 0 0 ./. 6 0 8 5 29 23 29 23 8 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792604126 8 30385396 G GATAGGTTT 261 PASS RBPMS CCDS6077.1 r.? - - Ins intronic I 30385396 30385406 8 30 429.323 - - 1 1 1 RBPMS|CCDS6077.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 RBPMS|CCDS6077.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 26 19 26 19 0 0 ./. 5 4 5 4 28 29 28 29 5 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792604967 8 31901720 TAAAGATGACATTA T 290 PASS NRG1 CCDS47836.1 r.? - - Del intronic D 31901720 31901736 13 35 537.901 - - 1 1 1 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 NRG1|CCDS47836.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 28 30 28 0 0 ./. 6 4 8 6 43 40 43 40 8 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792606753 8 36237908 T TA 960 PASS - - - - - Ins - I 36237908 36237916 1 77 851.008 - - 7 1 1 - - ./. 0 0 0 0 34 34 34 34 0 0 ./. 10 6 14 8 55 35 55 35 14 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792607125 8 37262632 GA G 1140 PASS - - - - - Del - D 37262632 37262637 1 110 1020.81 - - 4 1 1 - - ./. 0 0 0 0 21 27 21 27 0 0 ./. 9 10 11 15 44 50 44 50 11 15 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792608791 8 40376657 TCACAG T 873 PASS - - - - - Del - D 40376657 40376663 5 132 1127.79 - - 1 1 1 - - ./. 0 0 0 0 27 34 27 34 0 0 ./. 11 10 11 11 37 41 38 41 12 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792609982 8 42661646 G GT 300 PASS - - - - - Ins - I 42661646 42661656 1 12 257.511 - - 9 1 1 - - ./. 0 0 0 0 19 33 19 34 0 0 ./. 3 2 3 2 33 58 33 59 3 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792611354 8 49140549 GAGTTCCT GAA 464 PASS - - - - - Complex - DI 49140550 49140556 7 77 0 - - 0 1 1 - - ./. 0 0 0 0 30 27 30 27 0 0 ./. 10 6 0 0 37 41 37 41 10 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792612187 8 51672220 GAT G 300 PASS SNTG1 CCDS6147.1 r.? - - Del intronic D 51672220 51672235 2 12 268.95 - - 7 1 1 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SNTG1|CCDS6147.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 30 35 30 35 0 0 ./. 2 3 2 3 30 56 30 56 2 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792612840 8 52960087 AAG A 540 PASS - - - - - Del - D 52960087 52960091 2 30 482.305 - - 1 1 1 - - ./. 0 0 0 0 44 27 44 27 0 0 ./. 5 4 12 5 49 27 49 27 12 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792613210 8 53825936 G GA 420 PASS - - - - - Ins - I 53825936 53825939 1 18 372.316 - - 2 1 1 - - ./. 0 0 0 0 23 16 23 17 0 0 ./. 5 2 8 4 39 22 39 22 8 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792614372 8 56188936 GAAAGTTGAATGCCTTTCTAACTCCCTTTGCTCAAGTAGTCGCTGTC G 406 PASS XKR4 CCDS34893.1 r.? - - Del intronic D 56188936 56188985 46 63 753.061 - - 1 1 1 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 XKR4|CCDS34893.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 32 25 32 25 0 0 ./. 8 6 3 1 30 21 35 26 8 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792616480 8 61586706 T TAA 569 PASS CHD7 CCDS47865.1 r.? - - Ins upstream I 61586706 61586710 2 35 525.86 - - 3 1 1 CHD7|CCDS47865.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 CHD7|CCDS47865.1|r.?|-|-|protein_coding:insertion:5KB_upstream_variant|SO:0000010:SO:0000667:SO:0001635 ./. 0 0 0 0 39 20 40 20 0 0 ./. 4 6 10 11 36 45 36 47 11 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792617886 8 65285764 CAG C 360 PASS - - - - - Del - D 65285764 65285780 2 16 319.73 - - 7 1 1 - - ./. 0 0 0 0 20 22 20 22 0 0 ./. 3 3 3 3 33 31 33 31 3 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792620490 8 71144365 TCCTAGC T 290 PASS NCOA2 CCDS47872.1 r.? - - Del intronic D 71144365 71144372 6 35 537.901 - - 1 1 1 NCOA2|CCDS47872.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 NCOA2|CCDS47872.1|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 17 28 17 0 0 ./. 6 4 8 5 36 24 36 24 8 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792624497 8 80880583 AC A 720 PASS MRPS28 CCDS6226.1 r.? - - Del intronic D 80880583 80880586 1 40 645.481 - - 2 1 1 MRPS28|CCDS6226.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MRPS28|CCDS6226.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 21 29 21 29 0 0 ./. 3 9 4 13 23 40 23 40 4 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792625875 8 84062670 AAAC A 749 PASS - - - - - Del - D 84062670 84062676 3 50 698.067 - - 1 1 1 - - ./. 0 0 0 0 28 22 28 22 0 0 ./. 4 9 4 9 22 33 22 33 4 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792627211 8 87577535 CTTTA C 987 PASS CPNE3 CCDS6243.1 r.? - - Del downstream D 87577535 87577542 4 99 966.415 - - 1 1 1 CPNE3|CCDS6243.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 CPNE3|CCDS6243.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 33 35 33 35 0 0 ./. 10 8 14 8 35 39 35 39 14 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792632604 8 100297210 GTATT G 749 PASS VPS13B CCDS6280.1 r.? - - Del intronic D 100297210 100297215 4 54 696.863 - - 1 1 1 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 VPS13B|CCDS6280.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 28 27 28 27 0 0 ./. 8 5 11 6 41 33 41 33 11 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792635409 8 106502474 C CA 292 PASS ZFPM2 CCDS47908.1 r.? - - Ins intronic I 106502474 106502484 1 12 264.134 - - 9 1 1 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ZFPM2|CCDS47908.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 28 35 28 36 0 0 ./. 2 3 3 3 52 53 52 53 3 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792635838 8 107560814 ATAAG A 718 PASS OXR1 CCDS47909.1 r.? - - Del intronic D 107560814 107560823 4 56 699.271 - - 2 1 1 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 OXR1|CCDS47909.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 37 26 37 0 0 ./. 7 6 7 6 33 35 33 35 7 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792636275 8 108481949 TC T 780 PASS ANGPT1 CCDS6306.1 r.? - - Del intronic D 108481949 108481953 1 50 699.271 - - 3 1 1 ANGPT1|CCDS6306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ANGPT1|CCDS6306.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 31 27 31 27 0 0 ./. 4 9 11 13 42 32 42 32 11 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792637357 8 111299779 TTTTA T 509 PASS - - - - - Del - D 111299779 111299786 4 24 483.509 - - 1 1 1 - - ./. 0 0 0 0 27 27 27 27 0 0 ./. 2 7 3 10 17 38 17 38 3 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792640269 8 118657909 TCTATGA T 348 PASS - - - - - Del - D 118657909 118657916 6 40 640.062 - - 1 1 1 - - ./. 0 0 0 0 25 25 25 25 0 0 ./. 9 3 12 4 32 24 32 24 12 4 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792640603 8 119320239 TC T 420 PASS SAMD12 CCDS47913.1 r.? - - Del intronic D 119320239 119320241 1 14 376.531 - - 1 1 1 SAMD12|CCDS47913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 SAMD12|CCDS47913.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 24 19 24 19 0 0 ./. 1 6 4 6 29 28 29 28 4 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792642301 8 123273655 AG A 569 PASS - - - - - Del - D 123273655 123273657 1 32 537.299 - - 1 1 1 - - ./. 0 0 0 0 27 23 27 23 0 0 ./. 7 3 10 6 50 33 50 33 10 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792644046 8 126756658 AG A 600 PASS - - - - - Del - D 126756658 126756663 1 32 537.299 - - 4 1 1 - - ./. 0 0 0 0 25 19 25 19 0 0 ./. 7 3 9 5 40 27 40 27 9 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792644585 8 128080152 A AT 600 PASS - - - - - Ins - I 128080152 128080159 1 36 531.88 - - 6 1 1 - - ./. 0 0 0 0 16 26 16 27 0 0 ./. 5 5 7 9 31 46 32 48 7 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792645870 8 131064660 A AT 300 PASS ASAP1 CCDS6362.1 r.5734_5735insa c.? p.? Ins 3'UTR variant I 131064660 131064670 1 12 265.94 - - 9 1 1 ASAP1|CCDS6362.1|r.5734_5735insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ASAP1|CCDS6362.1|r.5734_5735insa|c.?|p.?|protein_coding:three_prime_UTR:exon:insertion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000667:SO:0001624:SO:0001576 ./. 0 0 0 0 30 26 31 26 0 0 ./. 3 2 3 2 53 40 53 40 3 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792647818 8 136435073 A AAAC 840 PASS - - - - - Ins - I 136435073 136435091 3 63 727.775 - - 5 1 1 - - ./. 0 0 0 0 38 33 38 34 0 0 ./. 6 8 9 11 42 36 43 36 9 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792651352 8 144893671 C CT 840 PASS SCRIB CCDS6412.1 r.? - - Ins intronic I 144893671 144893673 1 60 743.428 - - 1 1 1 SCRIB|CCDS6412.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SCRIB|CCDS6412.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 20 24 20 25 0 0 ./. 9 5 13 8 35 23 35 23 13 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792654629 9 5898932 TC T 480 PASS MLANA CCDS6466.1 r.? - - Del intronic D 5898932 5898934 1 25 431.003 - - 1 1 1 MLANA|CCDS6466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 MLANA|CCDS6466.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 26 26 26 26 0 0 ./. 4 4 8 9 25 34 25 34 8 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792658055 9 13378960 A AT 600 PASS - - - - - Ins - I 13378960 13378961 1 27 532.734 - - 0 1 1 - - ./. 0 0 0 0 16 35 16 35 0 0 ./. 2 8 2 8 29 34 29 34 2 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792658216 9 13757046 CG C 1409 PASS - - - - - Del - D 13757046 13757048 1 168 1287.59 - - 1 1 1 - - ./. 0 0 0 0 22 26 22 26 0 0 ./. 11 13 11 16 40 40 40 40 11 16 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792660059 9 17415691 AT A 720 PASS CNTLN CCDS43789.1 r.? - - Del intronic D 17415691 17415694 1 45 645.903 - - 2 1 1 CNTLN|CCDS43789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 CNTLN|CCDS43789.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 24 29 24 0 0 ./. 4 8 8 13 36 39 36 39 8 13 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792662029 9 22087794 AG A 720 PASS - - - - - Del - D 22087794 22087796 1 48 646.505 - - 1 1 1 - - ./. 0 0 0 0 24 16 24 16 0 0 ./. 5 7 7 12 30 39 30 39 7 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792662349 9 22881444 AC A 749 PASS - - - - - Del - D 22881444 22881446 1 50 700.381 - - 1 1 1 - - ./. 0 0 0 0 20 40 20 40 0 0 ./. 4 9 5 9 29 42 29 42 5 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792662595 9 23488260 A ATT 360 PASS - - - - - Ins - I 23488260 23488265 2 7 316.028 - - 4 1 1 - - ./. 0 0 0 0 27 37 28 37 0 0 ./. 6 0 11 6 36 35 38 36 11 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792662596 9 23488265 C CTT 269 PASS - - - - - Ins - I 23488265 23488272 2 6 263.357 - - 6 1 1 - - ./. 0 0 0 0 26 36 26 36 0 0 ./. 0 5 0 1 37 38 37 39 0 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792663295 9 25540855 T TTCTCAAAATA 551 PASS - - - - - Ins - I 25540855 25540856 10 104 907.436 - - 0 1 1 - - ./. 0 0 0 0 22 23 22 23 0 0 ./. 7 12 6 8 39 44 41 50 7 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792668987 9 37171519 ATCC A 629 PASS ZCCHC7 CCDS6608.2 r.? - - Del intronic D 37171519 37171529 3 40 592.63 - - 3 1 1 ZCCHC7|CCDS6608.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ZCCHC7|CCDS6608.2|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 27 29 27 0 0 ./. 4 7 8 7 36 28 36 28 8 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792672761 9 68193959 AC A 452 PASS - - - - - Del - D 68193959 68193962 1 35 538.754 - - 2 1 1 - - ./. 0 0 0 0 28 21 28 21 0 0 ./. 4 6 9 11 47 36 47 36 9 11 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792677683 9 76910526 TGACAGG T 290 PASS - - - - - Del - D 76910526 76910533 6 36 538.754 - - 1 1 1 - - ./. 0 0 0 0 24 26 24 26 0 0 ./. 5 5 7 5 22 14 22 14 7 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792679207 9 80762709 CACCTCAACAAATGG C 348 PASS - - - - - Del - D 80762709 80762724 14 48 646.505 - - 1 1 1 - - ./. 0 0 0 0 23 34 23 34 0 0 ./. 7 5 8 6 15 22 15 22 8 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792689059 9 107914761 AG A 960 PASS - - - - - Del - D 107914761 107914764 1 77 858.394 - - 2 1 1 - - ./. 0 0 0 0 30 37 30 37 0 0 ./. 10 6 10 8 26 18 26 18 10 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792689674 9 109463167 G GT 720 PASS - - - - - Ins - I 109463167 109463169 1 48 639.28 - - 1 1 1 - - ./. 0 0 0 0 31 37 32 37 0 0 ./. 5 7 7 12 22 30 23 30 7 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792690506 9 111669774 TATATTTA T 319 PASS IKBKAP CCDS6773.1 r.? - - Del intronic D 111669774 111669783 7 40 592.63 - - 1 1 1 IKBKAP|CCDS6773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IKBKAP|CCDS6773.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 22 36 22 36 0 0 ./. 7 4 8 5 32 39 32 39 8 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792692332 9 114983141 ACTC A 840 PASS ROD1 CCDS6784.1 r.? - - Del downstream D 114983141 114983147 3 55 754.256 - - 1 1 1 ROD1|CCDS6784.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ROD1|ENST00000458258|r.4664_4666delGAG|c.?|p.?|protein_coding:three_prime_UTR:exon:deletion:3_prime_UTR_variant:transcript_variant|SO:0000010:SO:0000205:SO:0000147:SO:0000159:SO:0001624:SO:0001576 ./. 0 0 0 0 17 21 17 21 0 0 ./. 10 4 11 5 56 35 56 35 11 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792701729 9 133436544 G GA 300 PASS - - - - - Ins - I 133436544 133436554 1 12 266.367 - - 9 1 1 - - ./. 0 0 0 0 27 23 27 23 0 0 ./. 3 2 3 2 40 52 40 53 3 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792705146 9 140733925 CT C 687 PASS EHMT1 ENST00000428019 r.? - - Del downstream D 140733925 140733933 1 54 700.381 - - 7 1 1 EHMT1|ENST00000428019|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 EHMT1|ENST00000428019|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 24 27 24 27 0 0 ./. 5 8 9 10 32 41 32 41 9 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792711772 X 22560210 T TC 1169 PASS - - - - - Ins - I 22560210 22560214 1 117 1066.04 - - 3 1 1 - - ./. 0 0 0 0 24 29 24 29 0 0 ./. 8 12 12 16 24 41 24 41 12 16 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792713242 X 26563227 TA T 989 PASS - - - - - Del - D 26563227 26563231 1 84 915.771 - - 3 1 1 - - ./. 0 0 0 0 26 30 26 30 0 0 ./. 6 11 6 12 27 23 27 23 6 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792714184 X 29480359 AG A 420 PASS IL1RAPL1 CCDS14218.1 r.? - - Del intronic D 29480359 29480361 1 18 377.33 - - 1 1 1 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 IL1RAPL1|CCDS14218.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 29 24 29 24 0 0 ./. 5 2 6 3 19 18 19 18 6 3 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792719820 X 47477757 CTCA CT 956 PASS SYN1 CCDS14280.1 r.? - - Complex intronic DI 47477758 47477760 3 91 0 - - 0 1 1 SYN1|CCDS14280.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 SYN1|CCDS14280.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 13 13 13 13 0 0 ./. 12 6 0 0 23 26 23 26 12 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792723108 X 62754546 G GA 300 PASS - - - - - Ins - I 62754546 62754556 1 10 264.103 - - 9 1 1 - - ./. 0 0 0 0 41 25 41 25 0 0 ./. 4 1 4 1 51 37 52 37 4 1 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792723505 X 64632040 AG A 480 PASS - - - - - Del - D 64632040 64632042 1 21 431.234 - - 1 1 1 - - ./. 0 0 0 0 23 23 23 23 0 0 ./. 2 6 7 6 35 24 35 24 7 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792725079 X 69472665 G GT 900 PASS - - - - - Ins - I 69472665 69472672 1 72 792.911 - - 6 1 1 - - ./. 0 0 0 0 43 22 43 22 0 0 ./. 7 8 8 9 42 45 43 46 8 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792727099 X 74929399 G GT 900 PASS - - - - - Ins - I 74929399 74929408 1 70 798.33 - - 8 1 1 - - ./. 0 0 0 0 22 27 23 29 0 0 ./. 6 9 6 12 46 51 46 53 6 12 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792731378 X 88273146 AAATAT A 381 PASS - - - - - Del - D 88273146 88273152 5 40 591.743 - - 1 1 1 - - ./. 0 0 0 0 21 25 21 25 0 0 ./. 7 4 11 7 22 25 22 25 11 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792734680 X 97242424 T TA 300 PASS - - - - - Ins - I 97242424 97242434 1 12 265.307 - - 9 1 1 - - ./. 0 0 0 0 36 23 36 23 0 0 ./. 3 2 3 2 43 42 43 42 3 2 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792736176 X 101201089 AC A 780 PASS - - - - - Del - D 101201089 101201092 1 54 700.154 - - 2 1 1 - - ./. 0 0 0 0 28 17 28 17 0 0 ./. 8 5 10 5 31 29 31 29 10 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792736892 X 103554795 AAAAATTCCT A 319 PASS - - - - - Del - D 103554795 103554806 9 42 592.947 - - 1 1 1 - - ./. 0 0 0 0 28 32 28 32 0 0 ./. 5 6 5 7 26 31 26 31 5 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792738052 X 107626798 CGAATGCGAG C 551 PASS COL4A6 CCDS14542.1 r.? - - Del intronic D 107626798 107626809 9 108 1024.18 - - 1 1 1 COL4A6|CCDS14542.1|r.?|-|-|protein_coding:CDS:intron:deletion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000159:SO:0001627 ENSG00000189372|ENST00000453808|r.70-17_70-9delgaaugcgag|c.70-17_70-9delgaatgcgag|p.?|protein_coding:CDS:extended_intronic_splice_region:intron:deletion:extended_intronic_splice_region_variant:intron_variant:transcript_variant|SO:0000010:SO:0000316:SO:CGPX05:SO:0000188:SO:0000159:SO:CGPX04:SO:0001627:SO:0001576 ./. 0 0 0 0 25 26 25 26 0 0 ./. 11 8 11 9 35 36 35 36 11 9 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792738872 X 110175023 TG T 660 PASS - - - - - Del - D 110175023 110175025 1 42 587.529 - - 1 1 1 - - ./. 0 0 0 0 20 33 20 33 0 0 ./. 5 6 7 8 28 42 28 42 7 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792740757 X 115307451 TAGGAAAA T 319 PASS AGTR2 CCDS14569.1 r.? - - Del downstream D 115307451 115307459 7 42 592.345 - - 1 1 1 AGTR2|CCDS14569.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 AGTR2|CCDS14569.1|r.?|-|-|protein_coding:deletion:5KB_downstream_variant|SO:0000010:SO:0000159:SO:0001633 ./. 0 0 0 0 15 18 15 18 0 0 ./. 6 5 6 6 35 25 35 25 6 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792746026 X 127936592 ATGTGAAGCTTT A 522 PASS - - - - - Del - D 127936592 127936605 11 96 967.869 - - 1 1 1 - - ./. 0 0 0 0 24 29 24 29 0 0 ./. 11 7 12 7 35 36 36 36 13 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792746235 X 128654128 G GTA 660 PASS SMARCA1 CCDS14612.1 r.? - - Ins intronic I 128654128 128654130 2 40 579.1 - - 0 1 - SMARCA1|CCDS14612.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 SMARCA1|CCDS14612.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 24 24 24 24 0 0 ./. 7 4 8 8 38 42 38 42 8 8 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792748371 X 134520868 TC T 323 PASS - - - - - Del - D 134520868 134520872 1 30 485.139 - - 3 1 1 - - ./. 0 0 0 0 17 15 17 15 0 0 ./. 4 5 8 6 37 19 37 19 8 6 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792751394 X 142666897 TTGG T 687 PASS - - - - - Del - D 142666897 142666902 3 54 700.756 - - 1 1 1 - - ./. 0 0 0 0 32 21 32 21 0 0 ./. 5 8 6 10 24 37 24 37 6 10 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792753798 X 149574402 GCT G 269 PASS MAMLD1 CCDS14693.2 r.? - - Del intronic D 149574402 149574418 2 6 257.48 - - 7 1 1 MAMLD1|CCDS14693.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 MAMLD1|CCDS14693.2|r.?|-|-|protein_coding:five_prime_UTR:intron:deletion:intron_variant|SO:0000010:SO:0000204:SO:0000188:SO:0000159:SO:0001627 ./. 0 0 0 0 17 16 17 16 0 0 ./. 0 5 1 5 28 30 28 30 1 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792754417 X 151156652 TAGCAGACTAA T 435 PASS - - - - - Del - D 151156652 151156663 10 72 808.565 - - 1 1 1 - - ./. 0 0 0 0 30 26 30 26 0 0 ./. 8 7 8 7 29 24 29 24 8 7 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792755243 X 153739792 T TG 420 PASS FAM3A CCDS35453.1 r.? - - Ins intronic I 153739792 153739797 1 20 373.116 - - 4 1 1 FAM3A|CCDS35453.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 FAM3A|CCDS35453.1|r.?|-|-|protein_coding:CDS:intron:insertion:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:0000667:SO:0001627 ./. 0 0 0 0 23 20 23 21 0 0 ./. 4 3 5 5 20 33 20 33 5 5 1 1 1 1 1 1 1 1 2874350 PD14455a PD14455b 2792755311 X 154070924 TATCAACTTTA TGG 617 PASS F8 CCDS35457.1 r.? - - Complex intronic DI 154070925 154070934 10 132 0 - - 0 1 1 F8|CCDS35457.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 F8|CCDS35457.1|r.?|-|-|protein_coding:CDS:intron:indel:intron_variant|SO:0000010:SO:0000316:SO:0000188:SO:1000032:SO:0001627 ./. 0 0 0 0 27 27 27 27 0 0 ./. 11 10 0 0 23 32 24 32 11 10 1 1 1 1 1 1 1 1